From 75952bf0f86b02ab53376c165ff862bc8fadcfec Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Thu, 13 Jun 2024 13:18:34 +0300 Subject: [PATCH] Update all Mondo Ingest data files --- docs/metrics/doid.md | 2 +- docs/metrics/gard.md | 2 +- docs/metrics/icd10cm.md | 2 +- docs/metrics/icd10who.md | 2 +- docs/metrics/icd11foundation.md | 2 +- docs/metrics/ncit.md | 2 +- docs/metrics/omim.md | 20 +- docs/metrics/ordo.md | 2 +- docs/reports/mapped_deprecated.md | 4 +- docs/reports/mapped_deprecated_omim.md | 1 - docs/reports/mapped_deprecated_ordo.md | 1 + docs/reports/migrate.md | 2 +- docs/reports/migrate_omim.md | 5 +- docs/reports/unmapped.md | 4 +- docs/reports/unmapped_omim.md | 3 + src/mappings/gard.sssom.tsv | 2 +- src/mappings/icd10cm.sssom.tsv | 2 +- src/mappings/icd10who.sssom.tsv | 2 +- src/mappings/icd11foundation.sssom.tsv | 2 +- src/mappings/mondo-nando.sssom.tsv | 2 +- src/mappings/ncit.sssom.tsv | 2 +- src/mappings/omim.sssom.tsv | 39 +- .../external/nando-mappings.robot.owl | 2 +- src/ontology/external/nord.robot.owl | 16 +- src/ontology/external/nord.robot.tsv | 1 + src/ontology/external/ordo-subsets.robot.owl | 2 +- src/ontology/external/ordo-subsets.robot.tsv | 2 +- src/ontology/imports/omo_import.owl | 4 +- src/ontology/imports/ro_import.owl | 4 +- src/ontology/lexmatch/README.md | 44 +-- .../mondo-only/unmapped_omim_mondo.tsv | 1 - .../mondo-only/unmapped_ordo_mondo.tsv | 3 +- .../mondo_closematch_icd11.foundation.tsv | 2 +- .../mondo_exactmatch_omim.tsv | 1 - .../mondo_exactmatch_orphanet.tsv | 3 +- src/ontology/metadata/doid-metrics.json | 2 +- src/ontology/metadata/gard-metrics.json | 2 +- src/ontology/metadata/icd10cm-metrics.json | 2 +- src/ontology/metadata/icd10who-metrics.json | 2 +- .../metadata/icd11foundation-metrics.json | 2 +- src/ontology/metadata/ncit-metrics.json | 2 +- src/ontology/metadata/omim-metrics.json | 78 ++-- src/ontology/metadata/ordo-metrics.json | 2 +- .../reports/component_signature-omim.tsv | 7 +- .../reports/doid.subclass.added.robot.tsv | 1 - .../reports/doid.subclass.confirmed.robot.tsv | 1 + .../reports/mirror_signature-omim.tsv | 3 + .../reports/omim.subclass.confirmed.robot.tsv | 2 +- .../omim_exclusion_reasons.robot.template.tsv | 4 +- ...mapped_deprecated_terms.robot.template.tsv | 1 - src/ontology/reports/omim_mapping_status.tsv | 5 +- src/ontology/reports/omim_unmapped_terms.tsv | 3 + .../ordo.subclass.added-obsolete.robot.tsv | 4 +- .../reports/ordo.subclass.confirmed.robot.tsv | 2 +- ...mapped_deprecated_terms.robot.template.tsv | 1 + src/ontology/reports/ordo_mapping_status.tsv | 2 +- .../reports/sync-subClassOf.confirmed.tsv | 5 +- .../sync-subClassOf.direct-in-mondo-only.tsv | 332 +++++++++++++++++- src/ontology/slurp/omim.tsv | 3 + src/ontology/unmapped/omim-unmapped.owl | 141 +++++--- 60 files changed, 609 insertions(+), 190 deletions(-) diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index 13f874db..5564ab12 100644 --- a/docs/metrics/doid.md +++ b/docs/metrics/doid.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/doid.owl ### Entities and axioms diff --git a/docs/metrics/gard.md b/docs/metrics/gard.md index dc029a69..936f5209 100644 --- a/docs/metrics/gard.md +++ b/docs/metrics/gard.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/gard.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/gard.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/gard.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index 9a5aff1e..02a9c041 100644 --- a/docs/metrics/icd10cm.md +++ b/docs/metrics/icd10cm.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index a0f95cc2..91117b10 100644 --- a/docs/metrics/icd10who.md +++ b/docs/metrics/icd10who.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/icd11foundation.md b/docs/metrics/icd11foundation.md index 363e7edd..ece163f7 100644 --- a/docs/metrics/icd11foundation.md +++ b/docs/metrics/icd11foundation.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/icd11foundation.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/icd11foundation.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index 3f277a24..2fe6332e 100644 --- a/docs/metrics/ncit.md +++ b/docs/metrics/ncit.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ncit.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index 82342c8c..5c4bc937 100644 --- a/docs/metrics/omim.md +++ b/docs/metrics/omim.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/omim.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 18 | -| Axioms | 346108 | -| Logical axioms | 22736 | -| Classes | 19509 | +| Axioms | 346158 | +| Logical axioms | 22739 | +| Classes | 19512 | | Object properties | 7 | | Data properties | 0 | | Individuals | 0 | @@ -32,17 +32,17 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 303841 | +| AnnotationAssertion | 303885 | | SubAnnotationPropertyOf | 1 | -| Declaration | 19530 | -| SubClassOf | 22736 | +| Declaration | 19533 | +| SubClassOf | 22739 | #### Entity namespaces: axiom counts by namespace | Metric | Value | | ------ | ----- | -| prefix_unknown | 18063 | +| prefix_unknown | 18066 | | oboInOwl | 4 | | owl | 2 | | xsd | 1 | @@ -61,8 +61,8 @@ | Metric | Value | | ------ | ----- | -| Class | 64971 | -| ObjectSomeValuesFrom | 17811 | +| Class | 64980 | +| ObjectSomeValuesFrom | 17813 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md index df1a5bfe..420d4d6a 100644 --- a/docs/metrics/ordo.md +++ b/docs/metrics/ordo.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/ordo.owl ### Entities and axioms diff --git a/docs/reports/mapped_deprecated.md b/docs/reports/mapped_deprecated.md index 39a61d46..343a0ddc 100644 --- a/docs/reports/mapped_deprecated.md +++ b/docs/reports/mapped_deprecated.md @@ -2,8 +2,8 @@ | Ontology | Tot deprecated in Mondo | |:----------------------------------------------------------|--------------------------:| | [DOID](./mapped_deprecated_doid.md) | 5 | -| [OMIM](./mapped_deprecated_omim.md) | 47 | -| [ORDO](./mapped_deprecated_ordo.md) | 225 | +| [OMIM](./mapped_deprecated_omim.md) | 46 | +| [ORDO](./mapped_deprecated_ordo.md) | 226 | | [NCIT](./mapped_deprecated_ncit.md) | 22 | | [GARD](./mapped_deprecated_gard.md) | 0 | | [ICD11FOUNDATION](./mapped_deprecated_icd11foundation.md) | 0 | diff --git a/docs/reports/mapped_deprecated_omim.md b/docs/reports/mapped_deprecated_omim.md index 5547d8e0..ab5fc42d 100644 --- a/docs/reports/mapped_deprecated_omim.md +++ b/docs/reports/mapped_deprecated_omim.md @@ -19,7 +19,6 @@ | MONDO:0008873 | OMIM:210730 | MONDO:equivalentObsolete | | MONDO:0009455 | OMIM:242870 | MONDO:equivalentObsolete | | MONDO:0009535 | OMIM:247440 | MONDO:equivalentObsolete | -| MONDO:0009586 | OMIM:249660 | MONDO:equivalentObsolete | | MONDO:0009654 | OMIM:252700 | MONDO:equivalentObsolete | | MONDO:0010045 | OMIM:270710 | MONDO:equivalentObsolete | | MONDO:0010291 | OMIM:300274 | MONDO:equivalentObsolete | diff --git a/docs/reports/mapped_deprecated_ordo.md b/docs/reports/mapped_deprecated_ordo.md index 74c1f687..c7765ba2 100644 --- a/docs/reports/mapped_deprecated_ordo.md +++ b/docs/reports/mapped_deprecated_ordo.md @@ -34,6 +34,7 @@ | MONDO:0012414 | Orphanet:228337 | MONDO:equivalentObsolete | | MONDO:0012588 | Orphanet:228366 | MONDO:equivalentObsolete | | MONDO:0013297 | Orphanet:238755 | MONDO:equivalentObsolete | +| MONDO:0013621 | Orphanet:306507 | MONDO:equivalentObsolete | | MONDO:0013866 | Orphanet:314629 | MONDO:equivalentObsolete | | MONDO:0014147 | Orphanet:352709 | MONDO:equivalentObsolete | | MONDO:0014788 | Orphanet:466801 | MONDO:equivalentObsolete | diff --git a/docs/reports/migrate.md b/docs/reports/migrate.md index 53f0a6ce..f94bb1b8 100644 --- a/docs/reports/migrate.md +++ b/docs/reports/migrate.md @@ -4,7 +4,7 @@ | [GARD](./migrate_gard.md) | 9,370 | | [DOID](./migrate_doid.md) | 34 | | [NCIT](./migrate_ncit.md) | 2,209 | -| [OMIM](./migrate_omim.md) | 13 | +| [OMIM](./migrate_omim.md) | 16 | | [ICD11FOUNDATION](./migrate_icd11foundation.md) | 12,409 | | [ICD10WHO](./migrate_icd10who.md) | 119 | | [ORDO](./migrate_ordo.md) | 10 | diff --git a/docs/reports/migrate_omim.md b/docs/reports/migrate_omim.md index 5f0c7960..0a5b510d 100644 --- a/docs/reports/migrate_omim.md +++ b/docs/reports/migrate_omim.md @@ -17,4 +17,7 @@ | MONDO:0970993 | immunodeficiency 119 | OMIM:620825 | MONDO:equivalentTo | immunodeficiency 119 | | MONDO:0021094 | | MONDO:0970994 | immunodeficiency 120 | OMIM:620836 | MONDO:equivalentTo | immunodeficiency 120 | | MONDO:0021094 | | MONDO:0970995 | premature ovarian failure 24 | OMIM:620840 | MONDO:equivalentTo | premature ovarian failure 24 | | MONDO:0019852 | -| MONDO:0970996 | mhc class ii deficiency | OMIMPS:209920 | MONDO:equivalentTo | MHC class II deficiency | | | \ No newline at end of file +| MONDO:0970996 | mhc class ii deficiency | OMIMPS:209920 | MONDO:equivalentTo | MHC class II deficiency | | | +| MONDO:0970998 | auroneurodental syndrome | OMIM:620830 | MONDO:equivalentTo | auroneurodental syndrome | | | +| MONDO:0970999 | spermatogenic failure 92 | OMIM:620848 | MONDO:equivalentTo | spermatogenic failure 92 | | MONDO:0004983 | +| MONDO:0971000 | spermatogenic failure 93 | OMIM:620849 | MONDO:equivalentTo | spermatogenic failure 93 | | | \ No newline at end of file diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index 7c609659..52df9746 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -6,9 +6,9 @@ | [NCIT](./unmapped_ncit.md) | 191,123 | 169,937 | 5,221 | 5,199 | 15,965 | 3,675 | 12,290 | 77.0% | | [ICD11FOUNDATION](./unmapped_icd11foundation.md) | 100,382 | 30,335 | 6,587 | 6,587 | 64,451 | 0 | 64,451 | 100.0% | | [GARD](./unmapped_gard.md) | 12,004 | 0 | 0 | 0 | 12,004 | 0 | 12,004 | 100.0% | -| [ORDO](./unmapped_ordo.md) | 15,402 | 6,212 | 1,391 | 1,166 | 9,190 | 9,127 | 63 | 0.7% | +| [ORDO](./unmapped_ordo.md) | 15,402 | 6,212 | 1,391 | 1,165 | 9,190 | 9,127 | 63 | 0.7% | | [DOID](./unmapped_doid.md) | 14,058 | 2,655 | 2,483 | 2,468 | 11,401 | 11,367 | 34 | 0.3% | -| [OMIM](./unmapped_omim.md) | 29,357 | 19,260 | 1,364 | 1,317 | 8,734 | 8,712 | 22 | 0.3% | +| [OMIM](./unmapped_omim.md) | 29,360 | 19,260 | 1,364 | 1,318 | 8,737 | 8,712 | 25 | 0.3% | `Ontology`: Name of ontology `Tot terms`: Total terms in ontology diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md index 24a939cb..67d6d8ab 100644 --- a/docs/reports/unmapped_omim.md +++ b/docs/reports/unmapped_omim.md @@ -11,6 +11,7 @@ | OMIM:620657 | amyloidosis, hereditary systemic 3 | | OMIM:620658 | amyloidosis, hereditary systemic 5 | | OMIM:620659 | amyloidosis, hereditary systemic 6 | +| OMIM:620830 | auroneurodental syndrome | | OMIM:620806 | developmental and epileptic encephalopathy 116 | | OMIM:620820 | el hayek-chahrour neurodevelopmental syndrome | | OMIM:620825 | immunodeficiency 119 | @@ -25,4 +26,6 @@ | OMIM:620840 | premature ovarian failure 24 | | OMIM:620819 | rothmund-thomson syndrome, type 4 | | OMIM:620838 | spermatogenic failure 91 | +| OMIM:620848 | spermatogenic failure 92 | +| OMIM:620849 | spermatogenic failure 93 | | OMIM:301119 | spermatogenic failure, x-linked, 8 | \ No newline at end of file diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv index 0e7b22ef..57139937 100644 --- a/src/mappings/gard.sssom.tsv +++ b/src/mappings/gard.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/bf20857c-043d-409a-b7a2-0aaf8997d749 +# mapping_set_id: https://w3id.org/sssom/mappings/3307157d-269d-484d-8e06-41bb182eeb18 subject_id subject_label predicate_id object_id mapping_justification obo:GARD_1 GRACILE syndrome skos:exactMatch Orphanet:53693 semapv:UnspecifiedMatching obo:GARD_1 GRACILE syndrome skos:narrowMatch OMIM:603358 semapv:UnspecifiedMatching diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv index bde85417..6f1f6b51 100644 --- a/src/mappings/icd10cm.sssom.tsv +++ b/src/mappings/icd10cm.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/f20d5636-2b78-431a-856a-bf2d25670274 +# mapping_set_id: https://w3id.org/sssom/mappings/31eb5c24-9668-4254-ab1a-254b5120643c diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index b5003bb6..26d8ae08 100644 --- a/src/mappings/icd10who.sssom.tsv +++ b/src/mappings/icd10who.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/f1f32f22-d5e8-4142-a91f-1f8d5ba9ba08 +# mapping_set_id: https://w3id.org/sssom/mappings/425592e1-c66c-434b-a6a8-e0e984eab321 diff --git a/src/mappings/icd11foundation.sssom.tsv b/src/mappings/icd11foundation.sssom.tsv index b09e9f8b..be90b3e3 100644 --- a/src/mappings/icd11foundation.sssom.tsv +++ b/src/mappings/icd11foundation.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/78841ed6-2aa6-4079-87ce-ad140e19741c +# mapping_set_id: https://w3id.org/sssom/mappings/16710c1c-e2ed-4759-ae4e-59d2b40613ea diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv index 696b749a..bd855e19 100644 --- a/src/mappings/mondo-nando.sssom.tsv +++ b/src/mappings/mondo-nando.sssom.tsv @@ -15,7 +15,7 @@ # mapping_provider: MONDO:NANDO # mapping_set_description: This mapping set is manually curated by the NANDO team at # nanbyodata.jp. -# mapping_set_id: https://w3id.org/sssom/mappings/4817534d-c1fe-4f66-8800-65e7e4c26d56 +# mapping_set_id: https://w3id.org/sssom/mappings/67e59146-3141-455c-9d53-7d0d4eee2e39 # mapping_set_title: NANDO - Mondo mappings provided by nanbyodata.jp subject_id subject_label predicate_id object_id object_label mapping_justification MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index 645fe043..388a0ec9 100644 --- a/src/mappings/ncit.sssom.tsv +++ b/src/mappings/ncit.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/f1f8d9d9-2cee-40bc-b4c6-b19d8c97520c +# mapping_set_id: https://w3id.org/sssom/mappings/66648e7f-532b-4149-94fc-23c100d2699f subject_id subject_label predicate_id object_id mapping_justification NCIT:C103222 Popliteal Fossa oboInOwl:hasDbXref UBERON:0013069 semapv:UnspecifiedMatching NCIT:C103384 Common Iliac Lymph Node oboInOwl:hasDbXref UBERON:0015878 semapv:UnspecifiedMatching diff --git a/src/mappings/omim.sssom.tsv b/src/mappings/omim.sssom.tsv index 7a0ed1e3..3fb1694a 100644 --- a/src/mappings/omim.sssom.tsv +++ b/src/mappings/omim.sssom.tsv @@ -845,7 +845,6 @@ MONDO:0007732 skos:exactMatch OMIM:142900 holt-oram syndrome semapv:Unspecified MONDO:0007733 skos:exactMatch OMIM:142945 holoprosencephaly 3 semapv:UnspecifiedMatching MONDO:0007734 skos:exactMatch OMIM:142946 holoprosencephaly 4 semapv:UnspecifiedMatching MONDO:0007735 skos:exactMatch OMIM:143000 horner syndrome, congenital semapv:UnspecifiedMatching -MONDO:0007736 skos:exactMatch OMIM:143020 hpa 1 recognition polymorphism, beta-globin-related semapv:UnspecifiedMatching MONDO:0007737 skos:exactMatch OMIM:143050 humeroradial synostosis semapv:UnspecifiedMatching MONDO:0007738 skos:exactMatch OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:UnspecifiedMatching MONDO:0007739 skos:exactMatch OMIM:143100 huntington disease semapv:UnspecifiedMatching @@ -7826,6 +7825,7 @@ MONDO:0015855 skos:exactMatch omim.ps:113700 Breasts and/or nipples, aplasia or MONDO:0015912 skos:exactMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0015942 skos:exactMatch omim.ps:305620 Frontometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0015977 skos:exactMatch omim.ps:601495 Agammaglobulinemia semapv:UnspecifiedMatching +MONDO:0015991 skos:exactMatch omim.ps:215700 Citrullinemia semapv:UnspecifiedMatching MONDO:0015993 skos:exactMatch omim.ps:120970 Cone-rod dystrophy/Cone dystrophy semapv:UnspecifiedMatching MONDO:0015999 skos:exactMatch omim.ps:610489 Pigmented nodular adrenocortical disease, primary semapv:UnspecifiedMatching MONDO:0016002 skos:exactMatch OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 semapv:UnspecifiedMatching @@ -9846,6 +9846,7 @@ MONDO:0800166 skos:exactMatch omim.ps:267750 Knobloch syndrome semapv:Unspecifi MONDO:0800167 skos:exactMatch OMIM:267750 knobloch syndrome 1 semapv:UnspecifiedMatching MONDO:0800187 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:UnspecifiedMatching MONDO:0800188 skos:exactMatch omim.ps:145600 Malignant hyperthermia semapv:UnspecifiedMatching +MONDO:0800306 skos:exactMatch OMIM:620681 myoclonic epilepsy of lafora 2 semapv:UnspecifiedMatching MONDO:0800341 skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:UnspecifiedMatching MONDO:0800436 skos:exactMatch OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 semapv:UnspecifiedMatching MONDO:0800437 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:UnspecifiedMatching @@ -10328,7 +10329,6 @@ MONDO:0958196 skos:exactMatch OMIM:620465 epilepsy, early-onset, 3, with or wit MONDO:0958197 skos:exactMatch OMIM:620569 leber-like hereditary optic neuropathy, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0958199 skos:exactMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:UnspecifiedMatching MONDO:0958200 skos:exactMatch OMIM:301116 intellectual developmental disorder, X-linked 113 semapv:UnspecifiedMatching -MONDO:0958201 skos:exactMatch OMIM:620681 myoclonic epilepsy of lafora 2 semapv:UnspecifiedMatching MONDO:0958202 skos:exactMatch OMIM:620687 moyamoya disease 7 semapv:UnspecifiedMatching MONDO:0958203 skos:exactMatch OMIM:620688 intellectual developmental disorder, autosomal dominant 74 semapv:UnspecifiedMatching MONDO:0958204 skos:exactMatch OMIM:620700 intellectual developmental disorder, autosomal recessive 81 semapv:UnspecifiedMatching @@ -10374,6 +10374,14 @@ MONDO:0968946 skos:exactMatch OMIM:620783 developmental and epileptic encephalo MONDO:0968947 skos:exactMatch OMIM:620784 neurodevelopmental disorder plus optic atrophy semapv:UnspecifiedMatching MONDO:0968949 skos:exactMatch omim.ps:144200 Palmoplantar keratoderma, epidermolytic semapv:UnspecifiedMatching MONDO:0968951 skos:exactMatch omim.ps:220150 Hypouricemia, renal semapv:UnspecifiedMatching +MONDO:0968976 skos:exactMatch OMIM:620785 neurodevelopmental disorder with progressive movement abnormalities semapv:UnspecifiedMatching +MONDO:0968977 skos:exactMatch OMIM:620786 basal ganglia calcification, idiopathic, 9, autosomal recessive semapv:UnspecifiedMatching +MONDO:0968978 skos:exactMatch OMIM:620789 aplasia cutis-enamel dysplasia syndrome semapv:UnspecifiedMatching +MONDO:0968979 skos:exactMatch OMIM:620790 neurodevelopmental disorder with hypotonia and seizures semapv:UnspecifiedMatching +MONDO:0968980 skos:exactMatch OMIM:620792 otosclerosis 12 semapv:UnspecifiedMatching +MONDO:0968981 skos:exactMatch OMIM:620794 deafness, autosomal recessive 124 semapv:UnspecifiedMatching +MONDO:0968982 skos:exactMatch OMIM:620795 autoinflammation with episodic fever and immune dysregulation semapv:UnspecifiedMatching +MONDO:0968983 skos:exactMatch OMIM:620796 proteasome-associated autoinflammatory syndrome 6 semapv:UnspecifiedMatching MONDO:1030001 skos:exactMatch omim.ps:607631 Epilepsy, juvenile absence semapv:UnspecifiedMatching MONDO:8000006 skos:exactMatch OMIM:193670 whim syndrome 1 semapv:UnspecifiedMatching MONDO:8000008 skos:exactMatch OMIM:212720 martsolf syndrome 1 semapv:UnspecifiedMatching @@ -15041,7 +15049,6 @@ OMIM:143000 horner syndrome, congenital skos:exactMatch MONDO:0007735 semapv:Un OMIM:143010 HLA-E skos:exactMatch hgnc.symbol:4962 semapv:UnspecifiedMatching OMIM:143010 HLA-E skos:exactMatch hgnc.symbol:HLA-E semapv:UnspecifiedMatching OMIM:143010 HLA-E skos:exactMatch ncbigene:3133 semapv:UnspecifiedMatching -OMIM:143020 hpa 1 recognition polymorphism, beta-globin-related skos:exactMatch MONDO:0007736 semapv:UnspecifiedMatching OMIM:143023 RASSF7 skos:exactMatch hgnc.symbol:1166 semapv:UnspecifiedMatching OMIM:143023 RASSF7 skos:exactMatch hgnc.symbol:RASSF7 semapv:UnspecifiedMatching OMIM:143023 RASSF7 skos:exactMatch ncbigene:8045 semapv:UnspecifiedMatching @@ -80117,7 +80124,7 @@ OMIM:620678 RINL skos:exactMatch hgnc.symbol:RINL semapv:UnspecifiedMatching OMIM:620678 RINL skos:exactMatch ncbigene:126432 semapv:UnspecifiedMatching OMIM:620679 lipodystrophy, familial partial, type 8 skos:exactMatch MONDO:0958022 semapv:UnspecifiedMatching OMIM:620680 lipodystrophy, congenital generalized, type 5 skos:exactMatch MONDO:0958023 semapv:UnspecifiedMatching -OMIM:620681 myoclonic epilepsy of lafora 2 skos:exactMatch MONDO:0958201 semapv:UnspecifiedMatching +OMIM:620681 myoclonic epilepsy of lafora 2 skos:exactMatch MONDO:0800306 semapv:UnspecifiedMatching OMIM:620682 SZRD1 skos:exactMatch hgnc.symbol:30232 semapv:UnspecifiedMatching OMIM:620682 SZRD1 skos:exactMatch hgnc.symbol:SZRD1 semapv:UnspecifiedMatching OMIM:620682 SZRD1 skos:exactMatch ncbigene:26099 semapv:UnspecifiedMatching @@ -80321,15 +80328,23 @@ OMIM:620781 TMEM208 skos:exactMatch ncbigene:29100 semapv:UnspecifiedMatching OMIM:620782 neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder skos:exactMatch MONDO:0968945 semapv:UnspecifiedMatching OMIM:620783 developmental and epileptic encephalopathy 115 skos:exactMatch MONDO:0968946 semapv:UnspecifiedMatching OMIM:620784 neurodevelopmental disorder plus optic atrophy skos:exactMatch MONDO:0968947 semapv:UnspecifiedMatching +OMIM:620785 neurodevelopmental disorder with progressive movement abnormalities skos:exactMatch MONDO:0968976 semapv:UnspecifiedMatching +OMIM:620786 basal ganglia calcification, idiopathic, 9, autosomal recessive skos:exactMatch MONDO:0968977 semapv:UnspecifiedMatching OMIM:620787 TCAIM skos:exactMatch hgnc.symbol:25241 semapv:UnspecifiedMatching OMIM:620787 TCAIM skos:exactMatch hgnc.symbol:TCAIM semapv:UnspecifiedMatching OMIM:620787 TCAIM skos:exactMatch ncbigene:285343 semapv:UnspecifiedMatching OMIM:620788 HIGD2A skos:exactMatch hgnc.symbol:28311 semapv:UnspecifiedMatching OMIM:620788 HIGD2A skos:exactMatch hgnc.symbol:HIGD2A semapv:UnspecifiedMatching OMIM:620788 HIGD2A skos:exactMatch ncbigene:192286 semapv:UnspecifiedMatching +OMIM:620789 aplasia cutis-enamel dysplasia syndrome skos:exactMatch MONDO:0968978 semapv:UnspecifiedMatching +OMIM:620790 neurodevelopmental disorder with hypotonia and seizures skos:exactMatch MONDO:0968979 semapv:UnspecifiedMatching OMIM:620791 CEP76 skos:exactMatch hgnc.symbol:25727 semapv:UnspecifiedMatching OMIM:620791 CEP76 skos:exactMatch hgnc.symbol:CEP76 semapv:UnspecifiedMatching OMIM:620791 CEP76 skos:exactMatch ncbigene:79959 semapv:UnspecifiedMatching +OMIM:620792 otosclerosis 12 skos:exactMatch MONDO:0968980 semapv:UnspecifiedMatching +OMIM:620794 deafness, autosomal recessive 124 skos:exactMatch MONDO:0968981 semapv:UnspecifiedMatching +OMIM:620795 autoinflammation with episodic fever and immune dysregulation skos:exactMatch MONDO:0968982 semapv:UnspecifiedMatching +OMIM:620796 proteasome-associated autoinflammatory syndrome 6 skos:exactMatch MONDO:0968983 semapv:UnspecifiedMatching OMIM:620797 DNLZ skos:exactMatch hgnc.symbol:33879 semapv:UnspecifiedMatching OMIM:620797 DNLZ skos:exactMatch hgnc.symbol:DNLZ semapv:UnspecifiedMatching OMIM:620797 DNLZ skos:exactMatch ncbigene:728489 semapv:UnspecifiedMatching @@ -80419,6 +80434,21 @@ OMIM:620839 C6ORF132 skos:exactMatch hgnc.symbol:C6orf132 semapv:UnspecifiedMat OMIM:620839 C6ORF132 skos:exactMatch ncbigene:647024 semapv:UnspecifiedMatching OMIM:620841 IFT25 skos:exactMatch hgnc.symbol:IFT25 semapv:UnspecifiedMatching OMIM:620841 IFT25 skos:exactMatch ncbigene:51668 semapv:UnspecifiedMatching +OMIM:620842 ANKMY1 skos:exactMatch hgnc.symbol:20987 semapv:UnspecifiedMatching +OMIM:620842 ANKMY1 skos:exactMatch hgnc.symbol:ANKMY1 semapv:UnspecifiedMatching +OMIM:620842 ANKMY1 skos:exactMatch ncbigene:51281 semapv:UnspecifiedMatching +OMIM:620843 HSF5 skos:exactMatch hgnc.symbol:26862 semapv:UnspecifiedMatching +OMIM:620843 HSF5 skos:exactMatch hgnc.symbol:HSF5 semapv:UnspecifiedMatching +OMIM:620843 HSF5 skos:exactMatch ncbigene:124535 semapv:UnspecifiedMatching +OMIM:620845 TM4SF19 skos:exactMatch hgnc.symbol:25167 semapv:UnspecifiedMatching +OMIM:620845 TM4SF19 skos:exactMatch hgnc.symbol:TM4SF19 semapv:UnspecifiedMatching +OMIM:620845 TM4SF19 skos:exactMatch ncbigene:116211 semapv:UnspecifiedMatching +OMIM:620846 NTAQ1 skos:exactMatch hgnc.symbol:25490 semapv:UnspecifiedMatching +OMIM:620846 NTAQ1 skos:exactMatch hgnc.symbol:NTAQ1 semapv:UnspecifiedMatching +OMIM:620846 NTAQ1 skos:exactMatch ncbigene:55093 semapv:UnspecifiedMatching +OMIM:620847 BMP8A skos:exactMatch hgnc.symbol:21650 semapv:UnspecifiedMatching +OMIM:620847 BMP8A skos:exactMatch hgnc.symbol:BMP8A semapv:UnspecifiedMatching +OMIM:620847 BMP8A skos:exactMatch ncbigene:353500 semapv:UnspecifiedMatching omim.ps:100070 Aortic aneurysm, familial abdominal skos:exactMatch MONDO:0007031 semapv:UnspecifiedMatching omim.ps:100300 Adams-Oliver syndrome skos:exactMatch MONDO:0007034 semapv:UnspecifiedMatching omim.ps:101800 Acrodysostosis skos:exactMatch MONDO:0019797 semapv:UnspecifiedMatching @@ -80674,6 +80704,7 @@ omim.ps:214450 Griscelli syndrome skos:exactMatch MONDO:0018306 semapv:Unspecif omim.ps:214700 Diarrhea, congenital skos:exactMatch MONDO:0000824 semapv:UnspecifiedMatching omim.ps:215100 Rhizomelic chondrodysplasia punctata skos:exactMatch MONDO:0015776 semapv:UnspecifiedMatching omim.ps:215500 Choroidal dystrophy, central areolar skos:exactMatch MONDO:0008982 semapv:UnspecifiedMatching +omim.ps:215700 Citrullinemia skos:exactMatch MONDO:0015991 semapv:UnspecifiedMatching omim.ps:218330 Cranioectodermal dysplasia skos:exactMatch MONDO:0009032 semapv:UnspecifiedMatching omim.ps:219000 Fraser syndrome skos:exactMatch MONDO:0009046 semapv:UnspecifiedMatching omim.ps:220110 Mitochondrial complex IV deficiency, nuclear-type skos:exactMatch MONDO:0033885 semapv:UnspecifiedMatching diff --git a/src/ontology/external/nando-mappings.robot.owl b/src/ontology/external/nando-mappings.robot.owl index d5ac0e93..2b5a236d 100644 --- a/src/ontology/external/nando-mappings.robot.owl +++ b/src/ontology/external/nando-mappings.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/nord.robot.owl b/src/ontology/external/nord.robot.owl index 256c1f7f..ccaa51e6 100644 --- a/src/ontology/external/nord.robot.owl +++ b/src/ontology/external/nord.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -150832,6 +150832,20 @@ + + + + + + + + + + MONDO:NORD + + + + diff --git a/src/ontology/external/nord.robot.tsv b/src/ontology/external/nord.robot.tsv index 63204c6a..1102e5c0 100644 --- a/src/ontology/external/nord.robot.tsv +++ b/src/ontology/external/nord.robot.tsv @@ -205,6 +205,7 @@ MONDO:0100050 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0100039 NORD:904 MONDO:NORD CDKL5 Deficiency Disorder NORD:904 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:904 MONDO:NORD MONDO:0100040 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0100032 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0100034 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0100025 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0100021 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0100017 NORD:1582 MONDO:NORD NORD:1582 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1582 MONDO:NORD diff --git a/src/ontology/external/ordo-subsets.robot.owl b/src/ontology/external/ordo-subsets.robot.owl index 3850bbe4..6c8f1170 100644 --- a/src/ontology/external/ordo-subsets.robot.owl +++ b/src/ontology/external/ordo-subsets.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/ordo-subsets.robot.tsv b/src/ontology/external/ordo-subsets.robot.tsv index bee37439..3c66b93e 100644 --- a/src/ontology/external/ordo-subsets.robot.tsv +++ b/src/ontology/external/ordo-subsets.robot.tsv @@ -3264,7 +3264,7 @@ MONDO:0013870 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:314667 MONDO:0013873 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85173 IMAGe syndrome IMAGe syndrome MONDO:0013875 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:352328 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDEL syndrome MONDO:0013877 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:447784 mitochondrial pyruvate carrier deficiency Mitochondrial pyruvate carrier deficiency -MONDO:0013881 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:306504 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome +MONDO:0013881 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:306504 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome MONDO:0013885 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:420179 Malan overgrowth syndrome Malan overgrowth syndrome MONDO:0013886 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:314647 cerebellar dysfunction with variable cognitive and behavioral abnormalities Non-progressive cerebellar ataxia with intellectual disability MONDO:0013889 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:391677 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome Short stature-optic atrophy-Pelger-Huët anomaly syndrome diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index 8c51d625..a581e370 100644 --- a/src/ontology/imports/omo_import.owl +++ b/src/ontology/imports/omo_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-06-05") +Annotation(owl:versionInfo "2024-06-13") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index 43053d06..6dc55e93 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-06-05") +Annotation(owl:versionInfo "2024-06-13") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index 6d22ddd6..88b7da1e 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -25,33 +25,33 @@ * Number of mappings in [`unmapped_ncit_mondo_exact`](mondo-only/unmapped_ncit_mondo.tsv): 26 * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 4 * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 1 - * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 124 - * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 124 + * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 123 + * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 123 * Number of mappings in [`unmapped_ordo_lex`](unmapped_ordo_lex.tsv): 1 * Number of mappings in [`unmapped_ordo_lex_exact`](unmapped_ordo_lex.tsv): 1 - * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 881 - * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 881 + * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 880 + * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 880 ## mondo_XXXXmatch_ontology - * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 8 - * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147 - * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 25 - * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1224 - * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 30 - * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 3 - * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 880 + * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 10 + * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 145 + * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 75 + * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 117 * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 4 - * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 118 - * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 5997 + * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 69 * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 58 * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 1957 - * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 69 - * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 64 + * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 5997 + * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 879 + * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 3 + * Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 179 + * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 8826 + * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 3021 + * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 2 * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 1 * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 65 - * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 2 - * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 75 - * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 145 - * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 10 - * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 3021 - * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 8826 - * Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 179 + * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 64 + * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 30 + * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 25 + * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1224 + * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147 + * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 8 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv index 4ad5f2ca..87e1c5df 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv @@ -27,7 +27,6 @@ MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 OMIM:210 MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes OMIM:242870 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009535 obsolete lymphedema, congenital recessive OMIM:247440 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009553 obsolete Plasmodium falciparum blood infection level OMIM:248310 MONDO:equivalentTo plasmodium falciparum blood infection level semapv:UnspecifiedMatching -MONDO:0009586 mesangial sclerosis, diffuse renal, with ocular abnormalities OMIM:249660 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types OMIM:252700 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009941 obsolete Pygmy OMIM:265850 MONDO:equivalentTo pygmy semapv:UnspecifiedMatching MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome OMIM:270710 MONDO:equivalentTo semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv index 64e78790..c22d7cb8 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv @@ -182,7 +182,6 @@ MONDO:0015972 obsolete rare constitutional anemia Orphanet:183651 MONDO:equivale MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases Orphanet:183731 MONDO:equivalentTo Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching MONDO:0015981 obsolete inherited gynecological tumor Orphanet:183734 MONDO:equivalentTo Genetic gynecological tumor semapv:UnspecifiedMatching MONDO:0015982 obsolete rare genetic intellectual disability Orphanet:183757 MONDO:equivalentTo Rare genetic intellectual disability semapv:UnspecifiedMatching -MONDO:0015983 obsolete rare genetic syndromic intellectual disability Orphanet:183763 MONDO:equivalentTo Rare genetic syndromic intellectual disability semapv:UnspecifiedMatching MONDO:0015984 obsolete rare genetic immune disease Orphanet:183770 MONDO:equivalentTo Rare genetic immune disease semapv:UnspecifiedMatching MONDO:0016034 obsolete cleft lip with or without cleft palate Orphanet:1991 MONDO:equivalentTo Cleft lip with or without cleft palate semapv:UnspecifiedMatching MONDO:0016054 obsolete cerebral malformation Orphanet:199633 MONDO:equivalentTo Non-syndromic cerebral malformation semapv:UnspecifiedMatching @@ -273,6 +272,7 @@ MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly O MONDO:0016645 obsolete rare neoplastic disease Orphanet:250908 MONDO:equivalentTo Rare neoplastic disease semapv:UnspecifiedMatching MONDO:0016678 obsolete maternal disease-related embryofetopathy Orphanet:251535 MONDO:equivalentTo Maternal disease-related embryofetopathy semapv:UnspecifiedMatching MONDO:0016679 obsolete rare tumor of neuroepithelial tissue Orphanet:251558 MONDO:equivalentTo Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching +MONDO:0016701 obsolete oligoastrocytic tumor Orphanet:251651 MONDO:equivalentTo Oligoastrocytic tumor semapv:UnspecifiedMatching MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin Orphanet:251668 MONDO:equivalentTo Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue Orphanet:251852 MONDO:equivalentTo Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue Orphanet:251905 MONDO:equivalentTo Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching @@ -629,7 +629,6 @@ MONDO:0020037 obsolete rare gynecological tumor Orphanet:98063 MONDO:equivalentT MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest Orphanet:98074 MONDO:equivalentTo Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess Orphanet:98078 MONDO:equivalentTo 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development Orphanet:98087 MONDO:equivalentTo Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching -MONDO:0020050 obsolete autosomal trisomy Orphanet:98130 MONDO:equivalentTo Autosomal trisomy semapv:UnspecifiedMatching MONDO:0020051 obsolete total autosomal trisomy Orphanet:98131 MONDO:equivalentTo Total autosomal trisomy semapv:UnspecifiedMatching MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy Orphanet:98132 MONDO:equivalentTo Partial autosomal duplication/triplication semapv:UnspecifiedMatching MONDO:0020053 obsolete total autosomal monosomy Orphanet:98141 MONDO:equivalentTo Total autosomal monosomy semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv index 138a364a..14dcd32a 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv @@ -1541,7 +1541,7 @@ MONDO:0013797 chromosome 17q12 deletion syndrome skos:closeMatch icd11.foundatio MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch icd11.foundation:1078819426 16p11.2 duplication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 16p11.2 duplication syndrome LEXMATCH MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch icd11.foundation:1078819426 16p11.2 duplication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 16p11.2 duplication LEXMATCH MONDO:0013873 IMAGe syndrome skos:closeMatch icd11.foundation:1064803315 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies LEXMATCH -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch icd11.foundation:1565524203 Junctional epidermolysis bullosa with respiratory and renal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label junctional epidermolysis bullosa with respiratory and renal involvement LEXMATCH +MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch icd11.foundation:1565524203 Junctional epidermolysis bullosa with respiratory and renal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label junctional epidermolysis bullosa with respiratory and renal involvement LEXMATCH MONDO:0013902 aortic valve disease 2 skos:closeMatch icd11.foundation:1328968452 Bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bicuspid aortic valve LEXMATCH MONDO:0013902 aortic valve disease 2 skos:closeMatch icd11.foundation:956813047 Aortic valve stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve stenosis LEXMATCH MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch icd11.foundation:614045107 Glycogen storage disease due to phosphoglucomutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 14 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv index 4af1b68f..bc647bf3 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv @@ -23,7 +23,6 @@ MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:exa MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes skos:exactMatch OMIM:242870 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009586 mesangial sclerosis, diffuse renal, with ocular abnormalities skos:exactMatch OMIM:249660 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009941 obsolete Pygmy skos:exactMatch OMIM:265850 pygmy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch OMIM:270710 semapv:UnspecifiedMatching MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv index 5795f009..7db1460b 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv @@ -181,7 +181,6 @@ MONDO:0015972 obsolete rare constitutional anemia skos:exactMatch Orphanet:18365 MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases skos:exactMatch Orphanet:183731 Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015981 obsolete inherited gynecological tumor skos:exactMatch Orphanet:183734 Genetic gynecological tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015982 obsolete rare genetic intellectual disability skos:exactMatch Orphanet:183757 Rare genetic intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015983 obsolete rare genetic syndromic intellectual disability skos:exactMatch Orphanet:183763 Rare genetic syndromic intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015984 obsolete rare genetic immune disease skos:exactMatch Orphanet:183770 Rare genetic immune disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016034 obsolete cleft lip with or without cleft palate skos:exactMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016054 obsolete cerebral malformation skos:exactMatch Orphanet:199633 Non-syndromic cerebral malformation semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -272,6 +271,7 @@ MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly s MONDO:0016645 obsolete rare neoplastic disease skos:exactMatch Orphanet:250908 Rare neoplastic disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016678 obsolete maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016679 obsolete rare tumor of neuroepithelial tissue skos:exactMatch Orphanet:251558 Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016701 obsolete oligoastrocytic tumor skos:exactMatch Orphanet:251651 Oligoastrocytic tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin skos:exactMatch Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251852 Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251905 Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -628,7 +628,6 @@ MONDO:0020037 obsolete rare gynecological tumor skos:exactMatch Orphanet:98063 R MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest skos:exactMatch Orphanet:98074 Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess skos:exactMatch Orphanet:98078 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch Orphanet:98087 Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020050 obsolete autosomal trisomy skos:exactMatch Orphanet:98130 Autosomal trisomy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020051 obsolete total autosomal trisomy skos:exactMatch Orphanet:98131 Total autosomal trisomy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy skos:exactMatch Orphanet:98132 Partial autosomal duplication/triplication semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020053 obsolete total autosomal monosomy skos:exactMatch Orphanet:98141 Total autosomal monosomy semapv:UnspecifiedMatching MONDO_MAPPINGS diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index b9c2605c..e0c98fa3 100644 --- a/src/ontology/metadata/doid-metrics.json +++ b/src/ontology/metadata/doid-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 11, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/doid.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/doid.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/gard-metrics.json b/src/ontology/metadata/gard-metrics.json index b710ea7f..44ea98dc 100644 --- a/src/ontology/metadata/gard-metrics.json +++ b/src/ontology/metadata/gard-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/gard.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/gard.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/gard.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10cm-metrics.json b/src/ontology/metadata/icd10cm-metrics.json index 15f3bba8..a696d259 100644 --- a/src/ontology/metadata/icd10cm-metrics.json +++ b/src/ontology/metadata/icd10cm-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/icd10cm.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10who-metrics.json b/src/ontology/metadata/icd10who-metrics.json index 7c7f8b19..17ce0a7b 100644 --- a/src/ontology/metadata/icd10who-metrics.json +++ b/src/ontology/metadata/icd10who-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/icd10who.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd11foundation-metrics.json b/src/ontology/metadata/icd11foundation-metrics.json index 01bf5b75..28ee063e 100644 --- a/src/ontology/metadata/icd11foundation-metrics.json +++ b/src/ontology/metadata/icd11foundation-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/icd11foundation.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/icd11foundation.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ncit-metrics.json b/src/ontology/metadata/ncit-metrics.json index 44e43e55..ec6c5c9d 100644 --- a/src/ontology/metadata/ncit-metrics.json +++ b/src/ontology/metadata/ncit-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 7, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ncit.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/ncit.owl", "owl2": true, "owl2_dl": true, "owl2_el": false, diff --git a/src/ontology/metadata/omim-metrics.json b/src/ontology/metadata/omim-metrics.json index 493cded0..7615e67b 100644 --- a/src/ontology/metadata/omim-metrics.json +++ b/src/ontology/metadata/omim-metrics.json @@ -4,10 +4,10 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 18, "annotation_property_count_incl": 18, - "axiom_count": 346108, - "axiom_count_incl": 346108, - "class_count": 19509, - "class_count_incl": 19509, + "axiom_count": 346158, + "axiom_count_incl": 346158, + "class_count": 19512, + "class_count_incl": 19512, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "E", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 22736, - "logical_axiom_count_incl": 22736, + "logical_axiom_count": 22739, + "logical_axiom_count_incl": 22739, "obj_property_count": 7, "obj_property_count_incl": 7, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/omim.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/omim.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 19536, - "signature_entity_count_incl": 19536, + "signature_entity_count": 19539, + "signature_entity_count_incl": 19539, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 22736, - "tbox_axiom_count_incl": 22736, - "tboxrbox_axiom_count": 22736, - "tboxrbox_axiom_count_incl": 22736, + "tbox_axiom_count": 22739, + "tbox_axiom_count_incl": 22739, + "tboxrbox_axiom_count": 22739, + "tboxrbox_axiom_count_incl": 22739, "axiom_types": [ "AnnotationAssertion", "SubAnnotationPropertyOf", @@ -65,24 +65,24 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 303841, + "AnnotationAssertion": 303885, "SubAnnotationPropertyOf": 1, - "Declaration": 19530, - "SubClassOf": 22736 + "Declaration": 19533, + "SubClassOf": 22739 }, "axiom_type_count_incl": { - "AnnotationAssertion": 303841, + "AnnotationAssertion": 303885, "SubAnnotationPropertyOf": 1, - "Declaration": 19530, - "SubClassOf": 22736 + "Declaration": 19533, + "SubClassOf": 22739 }, "class_expression_count": { - "Class": 64971, - "ObjectSomeValuesFrom": 17811 + "Class": 64980, + "ObjectSomeValuesFrom": 17813 }, "class_expression_count_incl": { - "Class": 64971, - "ObjectSomeValuesFrom": 17811 + "Class": 64980, + "ObjectSomeValuesFrom": 17813 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -99,35 +99,35 @@ "obo": "http://purl.obolibrary.org/obo/" }, "namespace_axiom_count": { - "prefix_unknown": 87810, - "oboInOwl": 91676, + "prefix_unknown": 87834, + "oboInOwl": 91683, "MONDO": 19045, - "rdf": 20983, + "rdf": 20993, "owl": 1364, "IAO": 55205, - "skos": 80982, - "rdfs": 40046, - "biolink": 36872, + "skos": 81013, + "rdfs": 40051, + "biolink": 36877, "CHR": 7583, - "RO": 17818, + "RO": 17820, "obo": 2 }, "namespace_axiom_count_incl": { - "prefix_unknown": 87810, - "oboInOwl": 91676, + "prefix_unknown": 87834, + "oboInOwl": 91683, "MONDO": 19045, - "rdf": 20983, + "rdf": 20993, "owl": 1364, "IAO": 55205, - "skos": 80982, - "rdfs": 40046, - "biolink": 36872, + "skos": 81013, + "rdfs": 40051, + "biolink": 36877, "CHR": 7583, - "RO": 17818, + "RO": 17820, "obo": 2 }, "namespace_entity_count": { - "prefix_unknown": 18063, + "prefix_unknown": 18066, "oboInOwl": 4, "owl": 2, "xsd": 1, @@ -142,7 +142,7 @@ "obo": 1 }, "namespace_entity_count_incl": { - "prefix_unknown": 18063, + "prefix_unknown": 18066, "oboInOwl": 4, "owl": 2, "xsd": 1, diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index 5fa364b0..7ceabd3e 100644 --- a/src/ontology/metadata/ordo-metrics.json +++ b/src/ontology/metadata/ordo-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 4, "ontology_anno_count": 12, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-05/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-13/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/reports/component_signature-omim.tsv b/src/ontology/reports/component_signature-omim.tsv index d9f80a0d..ee5029ce 100644 --- a/src/ontology/reports/component_signature-omim.tsv +++ b/src/ontology/reports/component_signature-omim.tsv @@ -1576,7 +1576,6 @@ - @@ -9888,7 +9887,6 @@ - @@ -10765,6 +10763,7 @@ + @@ -17809,6 +17808,7 @@ + @@ -17865,9 +17865,12 @@ + + + diff --git a/src/ontology/reports/doid.subclass.added.robot.tsv b/src/ontology/reports/doid.subclass.added.robot.tsv index f5322bb1..7a5e2550 100644 --- a/src/ontology/reports/doid.subclass.added.robot.tsv +++ b/src/ontology/reports/doid.subclass.added.robot.tsv @@ -301,7 +301,6 @@ MONDO:0002811 main bronchus cancer MONDO:0008903 DOID:3924 DOID:1324 lung cancer MONDO:0002822 trabecular adenocarcinoma MONDO:0002656 DOID:3965 DOID:3451 skin carcinoma MONDO:0002829 bartholin gland carcinoma MONDO:0851103 DOID:60003 DOID:60002 Bartholin's gland disease MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma MONDO:0001748 DOID:4003 DOID:1357 maxillary sinus carcinoma -MONDO:0002839 leather-bottle stomach MONDO:0005017 DOID:4023 DOID:6217 diffuse gastric adenocarcinoma MONDO:0002848 skeletal muscle neoplasm MONDO:0003061 DOID:4044 DOID:461 benign muscle neoplasm MONDO:0002855 ectomesenchymoma MONDO:0003244 DOID:4055 DOID:502 central nervous system mesenchymal non-meningothelial tumor MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma MONDO:0003193 DOID:4075 DOID:4896 bile duct adenocarcinoma diff --git a/src/ontology/reports/doid.subclass.confirmed.robot.tsv b/src/ontology/reports/doid.subclass.confirmed.robot.tsv index 71da35f8..d57659dd 100644 --- a/src/ontology/reports/doid.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/doid.subclass.confirmed.robot.tsv @@ -6966,6 +6966,7 @@ MONDO:0018160 hereditary retinoblastoma MONDO:0008380 DOID:4648 DOID:768 retinob MONDO:0018166 oral submucous fibrosis MONDO:0006858 DOID:5773 DOID:403 mouth disorder MONDO:0018171 malignant germ cell tumor of ovary MONDO:0011366 DOID:2155 DOID:2156 ovarian germ cell tumor MONDO:0018181 staphylococcal scalded skin syndrome MONDO:0000315 DOID:9063 DOID:0050339 commensal bacterial infectious disease +MONDO:0018184 gastric linitis plastica MONDO:0005017 DOID:4023 DOID:6217 diffuse gastric adenocarcinoma MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 MONDO:0015364 DOID:0070162 DOID:0050548 hereditary sensory and autonomic neuropathy MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood MONDO:0003659 DOID:0070324 DOID:5823 pediatric lymphoma MONDO:0018234 dysostosis MONDO:0005497 DOID:1934 DOID:0080006 bone development disease diff --git a/src/ontology/reports/mirror_signature-omim.tsv b/src/ontology/reports/mirror_signature-omim.tsv index ff7b2318..f50c9eeb 100644 --- a/src/ontology/reports/mirror_signature-omim.tsv +++ b/src/ontology/reports/mirror_signature-omim.tsv @@ -30202,6 +30202,7 @@ + @@ -30219,6 +30220,8 @@ + + diff --git a/src/ontology/reports/omim.subclass.confirmed.robot.tsv b/src/ontology/reports/omim.subclass.confirmed.robot.tsv index 5c624975..210bd359 100644 --- a/src/ontology/reports/omim.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/omim.subclass.confirmed.robot.tsv @@ -1915,7 +1915,7 @@ MONDO:0013874 glucocorticoid deficiency 4 MONDO:0008733 OMIM:614736 OMIMPS:20220 MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0017359 OMIM:614739 OMIMPS:250950 3-methylglutaconic aciduria MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 MONDO:0000148 OMIM:614742 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 MONDO:0000148 OMIM:614743 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0017612 OMIM:614748 OMIMPS:226650 junctional epidermolysis bullosa +MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0017612 OMIM:614748 OMIMPS:226650 junctional epidermolysis bullosa MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 MONDO:0016596 OMIM:614749 OMIMPS:239300 hyperphosphatasia-intellectual disability syndrome MONDO:0013883 congenital myasthenic syndrome 13 MONDO:0000182 OMIM:614750 OMIMPS:610542 congenital myasthenic syndrome with tubular aggregates MONDO:0013887 heterotaxy, visceral, 6, autosomal MONDO:0018677 OMIM:614779 OMIMPS:306955 visceral heterotaxy diff --git a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv index bfe581e3..e9223fa2 100644 --- a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv @@ -17605,6 +17605,7 @@ OMIM:104220 MONDO:excludeNonDisease OMIM:104221 MONDO:excludeNonDisease OMIM:104230 MONDO:excludeNonDisease OMIM:104240 MONDO:excludeNonDisease +OMIM:104250 MONDO:excludeNonDisease OMIM:104260 MONDO:excludeNonDisease OMIM:104610 MONDO:excludeNonDisease OMIM:104613 MONDO:excludeNonDisease @@ -22006,6 +22007,7 @@ OMIM:604941 MONDO:excludeNonDisease OMIM:604942 MONDO:excludeNonDisease OMIM:604944 MONDO:excludeNonDisease OMIM:604945 MONDO:excludeNonDisease +OMIM:604946 MONDO:excludeNonDisease OMIM:604947 MONDO:excludeNonDisease OMIM:604948 MONDO:excludeNonDisease OMIM:604949 MONDO:excludeNonDisease @@ -23257,7 +23259,6 @@ OMIM:607065 MONDO:excludeNonDisease OMIM:607067 MONDO:excludeNonDisease OMIM:607068 MONDO:excludeNonDisease OMIM:607069 MONDO:excludeNonDisease -OMIM:607073 MONDO:excludeNonDisease OMIM:607074 MONDO:excludeNonDisease OMIM:607075 MONDO:excludeNonDisease OMIM:607076 MONDO:excludeNonDisease @@ -29845,7 +29846,6 @@ OMIM:620697 MONDO:excludeNonDisease OMIM:620701 MONDO:excludeNonDisease OMIM:620702 MONDO:excludeNonDisease OMIM:620706 MONDO:excludeNonDisease -OMIM:620708 MONDO:excludeNonDisease OMIM:620709 MONDO:excludeNonDisease OMIM:620710 MONDO:excludeNonDisease OMIM:620713 MONDO:excludeNonDisease diff --git a/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv index 1d8f9ee0..854c958b 100644 --- a/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv @@ -14,7 +14,6 @@ MONDO:0008415 OMIM:181515 MONDO:equivalentObsolete MONDO:0008873 OMIM:210730 MONDO:equivalentObsolete MONDO:0009455 OMIM:242870 MONDO:equivalentObsolete MONDO:0009535 OMIM:247440 MONDO:equivalentObsolete -MONDO:0009586 OMIM:249660 MONDO:equivalentObsolete MONDO:0009654 OMIM:252700 MONDO:equivalentObsolete MONDO:0010045 OMIM:270710 MONDO:equivalentObsolete MONDO:0010291 OMIM:300274 MONDO:equivalentObsolete diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index eb84288a..b3b9e78a 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -14,9 +14,12 @@ OMIM:620818 mhc class 2 deficiency 5 False False False OMIM:620819 rothmund-thomson syndrome, type 4 False False False OMIM:620820 el hayek-chahrour neurodevelopmental syndrome False False False OMIM:620825 immunodeficiency 119 False False False +OMIM:620830 auroneurodental syndrome False False False OMIM:620836 immunodeficiency 120 False False False OMIM:620838 spermatogenic failure 91 False False False OMIM:620840 premature ovarian failure 24 False False False +OMIM:620848 spermatogenic failure 92 False False False +OMIM:620849 spermatogenic failure 93 False False False OMIMPS:105210 Amyloidosis, hereditary systemic False False False OMIMPS:209920 MHC class II deficiency False False False OMIMPS:604571 MHC class I deficiency False False False @@ -506,6 +509,7 @@ OMIM:247400 False False True OMIM:247900 False False True OMIM:248750 False False True OMIM:248810 False False True +OMIM:249660 False False True OMIM:249800 removed from database False False True OMIM:250600 False False True OMIM:251455 False False True @@ -27712,7 +27716,6 @@ OMIM:181515 True False True OMIM:210730 True False True OMIM:242870 True False True OMIM:247440 True False True -OMIM:249660 True False True OMIM:252700 True False True OMIM:270710 True False True OMIM:276905 True False True diff --git a/src/ontology/reports/omim_unmapped_terms.tsv b/src/ontology/reports/omim_unmapped_terms.tsv index a008adc1..3ba574cd 100644 --- a/src/ontology/reports/omim_unmapped_terms.tsv +++ b/src/ontology/reports/omim_unmapped_terms.tsv @@ -6,6 +6,7 @@ OMIMPS:619539 Neuroocular syndrome OMIM:620657 amyloidosis, hereditary systemic 3 OMIM:620658 amyloidosis, hereditary systemic 5 OMIM:620659 amyloidosis, hereditary systemic 6 +OMIM:620830 auroneurodental syndrome OMIM:620806 developmental and epileptic encephalopathy 116 OMIM:620820 el hayek-chahrour neurodevelopmental syndrome OMIM:620825 immunodeficiency 119 @@ -20,4 +21,6 @@ OMIM:620818 mhc class 2 deficiency 5 OMIM:620840 premature ovarian failure 24 OMIM:620819 rothmund-thomson syndrome, type 4 OMIM:620838 spermatogenic failure 91 +OMIM:620848 spermatogenic failure 92 +OMIM:620849 spermatogenic failure 93 OMIM:301119 spermatogenic failure, x-linked, 8 diff --git a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv index 1886a229..0f28a118 100644 --- a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv @@ -5910,8 +5910,8 @@ MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Lei MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0019058 Orphanet:352328 Orphanet:68385 obsolete neurometabolic disease MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0019589 Orphanet:352328 Orphanet:90642 obsolete syndromic genetic hearing loss MONDO:0013877 mitochondrial pyruvate carrier deficiency MONDO:0019058 Orphanet:447784 Orphanet:68385 obsolete neurometabolic disease -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0017016 Orphanet:306504 Orphanet:264670 obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0028569 Orphanet:306504 Orphanet:264992 obsolete genetic interstitial lung disease +MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0017016 Orphanet:306504 Orphanet:264670 obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder +MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0028569 Orphanet:306504 Orphanet:264992 obsolete genetic interstitial lung disease MONDO:0013885 Malan overgrowth syndrome MONDO:0035863 Orphanet:420179 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013885 Malan overgrowth syndrome MONDO:8000032 Orphanet:420179 Orphanet:377789 obsolete malformation syndrome MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities MONDO:0035862 Orphanet:314647 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome diff --git a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv index 93cb259f..bb5168e3 100644 --- a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv @@ -2005,7 +2005,7 @@ MONDO:0013869 adenine phosphoribosyltransferase deficiency MONDO:0019236 Orphane MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0017740 Orphanet:314667 Orphanet:309347 disorder of protein N-glycosylation MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0017359 Orphanet:352328 Orphanet:289902 3-methylglutaconic aciduria MONDO:0013877 mitochondrial pyruvate carrier deficiency MONDO:0016789 Orphanet:447784 Orphanet:254746 pyruvate metabolism disorder -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0017612 Orphanet:306504 Orphanet:305 junctional epidermolysis bullosa +MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0017612 Orphanet:306504 Orphanet:305 junctional epidermolysis bullosa MONDO:0013885 Malan overgrowth syndrome MONDO:0019716 Orphanet:420179 Orphanet:93460 overgrowth syndrome MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities MONDO:0019792 Orphanet:314647 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0013890 congenital myopathy with internal nuclei and atypical cores MONDO:0018947 Orphanet:319160 Orphanet:595 centronuclear myopathy diff --git a/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv index 596916a2..3f48e046 100644 --- a/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv @@ -29,6 +29,7 @@ MONDO:0012296 Orphanet:268835 MONDO:equivalentObsolete MONDO:0012414 Orphanet:228337 MONDO:equivalentObsolete MONDO:0012588 Orphanet:228366 MONDO:equivalentObsolete MONDO:0013297 Orphanet:238755 MONDO:equivalentObsolete +MONDO:0013621 Orphanet:306507 MONDO:equivalentObsolete MONDO:0013866 Orphanet:314629 MONDO:equivalentObsolete MONDO:0014147 Orphanet:352709 MONDO:equivalentObsolete MONDO:0014788 Orphanet:466801 MONDO:equivalentObsolete diff --git a/src/ontology/reports/ordo_mapping_status.tsv b/src/ontology/reports/ordo_mapping_status.tsv index 613aed6f..a754fa27 100644 --- a/src/ontology/reports/ordo_mapping_status.tsv +++ b/src/ontology/reports/ordo_mapping_status.tsv @@ -5189,7 +5189,6 @@ Orphanet:306462 OBSOLETE: Congenital sucrase-isomaltase deficiency without starc Orphanet:306474 OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance False True True Orphanet:306486 OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance False True True Orphanet:3065 X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome False True True -Orphanet:306507 LAMB2-related infantile-onset nephrotic syndrome False True True Orphanet:306519 OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria False True True Orphanet:306522 OBSOLETE: Genetic primary hypomagnesemia with normocalciuria False True True Orphanet:306561 OBSOLETE: Autosomal dominant childhood-onset cortical cataract False True True @@ -15279,6 +15278,7 @@ Orphanet:295179 OBSOLETE: Postaxial polydactyly of toes, unilateral True True Tr Orphanet:295181 OBSOLETE: Postaxial polydactyly of toes, bilateral True True True Orphanet:295183 OBSOLETE: Central polydactyly of toes, unilateral True True True Orphanet:295185 OBSOLETE: Central polydactyly of toes, bilateral True True True +Orphanet:306507 LAMB2-related infantile-onset nephrotic syndrome True True True Orphanet:306539 OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary True True True Orphanet:306588 OBSOLETE: Autosomal dominant Opitz G/BBB syndrome True True True Orphanet:306762 OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature True True True diff --git a/src/ontology/reports/sync-subClassOf.confirmed.tsv b/src/ontology/reports/sync-subClassOf.confirmed.tsv index c9bf9e90..c4bd3eb8 100644 --- a/src/ontology/reports/sync-subClassOf.confirmed.tsv +++ b/src/ontology/reports/sync-subClassOf.confirmed.tsv @@ -6966,6 +6966,7 @@ MONDO:0018160 hereditary retinoblastoma MONDO:0008380 DOID:4648 DOID:768 retinob MONDO:0018166 oral submucous fibrosis MONDO:0006858 DOID:5773 DOID:403 mouth disorder MONDO:0018171 malignant germ cell tumor of ovary MONDO:0011366 DOID:2155 DOID:2156 ovarian germ cell tumor MONDO:0018181 staphylococcal scalded skin syndrome MONDO:0000315 DOID:9063 DOID:0050339 commensal bacterial infectious disease +MONDO:0018184 gastric linitis plastica MONDO:0005017 DOID:4023 DOID:6217 diffuse gastric adenocarcinoma MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 MONDO:0015364 DOID:0070162 DOID:0050548 hereditary sensory and autonomic neuropathy MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood MONDO:0003659 DOID:0070324 DOID:5823 pediatric lymphoma MONDO:0018234 dysostosis MONDO:0005497 DOID:1934 DOID:0080006 bone development disease @@ -14147,7 +14148,7 @@ MONDO:0013874 glucocorticoid deficiency 4 MONDO:0008733 OMIM:614736 OMIMPS:20220 MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0017359 OMIM:614739 OMIMPS:250950 3-methylglutaconic aciduria MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 MONDO:0000148 OMIM:614742 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 MONDO:0000148 OMIM:614743 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0017612 OMIM:614748 OMIMPS:226650 junctional epidermolysis bullosa +MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0017612 OMIM:614748 OMIMPS:226650 junctional epidermolysis bullosa MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 MONDO:0016596 OMIM:614749 OMIMPS:239300 hyperphosphatasia-intellectual disability syndrome MONDO:0013883 congenital myasthenic syndrome 13 MONDO:0000182 OMIM:614750 OMIMPS:610542 congenital myasthenic syndrome with tubular aggregates MONDO:0013887 heterotaxy, visceral, 6, autosomal MONDO:0018677 OMIM:614779 OMIMPS:306955 visceral heterotaxy @@ -18016,7 +18017,7 @@ MONDO:0013869 adenine phosphoribosyltransferase deficiency MONDO:0019236 Orphane MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0017740 Orphanet:314667 Orphanet:309347 disorder of protein N-glycosylation MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0017359 Orphanet:352328 Orphanet:289902 3-methylglutaconic aciduria MONDO:0013877 mitochondrial pyruvate carrier deficiency MONDO:0016789 Orphanet:447784 Orphanet:254746 pyruvate metabolism disorder -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0017612 Orphanet:306504 Orphanet:305 junctional epidermolysis bullosa +MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0017612 Orphanet:306504 Orphanet:305 junctional epidermolysis bullosa MONDO:0013885 Malan overgrowth syndrome MONDO:0019716 Orphanet:420179 Orphanet:93460 overgrowth syndrome MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities MONDO:0019792 Orphanet:314647 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0013890 congenital myopathy with internal nuclei and atypical cores MONDO:0018947 Orphanet:319160 Orphanet:595 centronuclear myopathy diff --git a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv index 3116280e..7db24874 100644 --- a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv +++ b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv @@ -2385,7 +2385,6 @@ MONDO:0002836 MONDO:0021327 True urethra transitional cell carcinoma carcinoma o MONDO:0002836 MONDO:0040679 True urethra transitional cell carcinoma urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002837 MONDO:0006406 True sarcomatoid transitional cell carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002837 MONDO:0006474 True sarcomatoid transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002839 MONDO:0004298 True leather-bottle stomach stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002840 MONDO:0004966 True eosinophilic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002842 MONDO:0004966 True bacterial gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002842 MONDO:0005113 True bacterial gastritis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -11653,7 +11652,7 @@ MONDO:0013877 MONDO:0006025 True mitochondrial pyruvate carrier deficiency autos MONDO:0013877 MONDO:0016789 True mitochondrial pyruvate carrier deficiency pyruvate metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013878 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013879 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013881 MONDO:0017612 True pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013881 MONDO:0017612 True epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013882 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 2 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013883 MONDO:0000182 True congenital myasthenic syndrome 13 congenital myasthenic syndrome with tubular aggregates UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013885 MONDO:0003847 True Malan overgrowth syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -14488,6 +14487,7 @@ MONDO:0018181 MONDO:0000315 True staphylococcal scalded skin syndrome commensal MONDO:0018181 MONDO:0017592 True staphylococcal scalded skin syndrome staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018182 MONDO:0017592 True bullous impetigo staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018183 MONDO:0017592 True staphylococcal necrotizing pneumonia staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018184 MONDO:0005017 True gastric linitis plastica diffuse gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018189 MONDO:0019216 True autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018189 MONDO:0020044 True autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018193 MONDO:0010108 True testicular teratoma testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18955,6 +18955,7 @@ MONDO:0000088 MONDO:0021147 False precocious puberty disorder of development or MONDO:0000090 MONDO:0005181 False progressive external ophthalmoplegia with mitochondrial DNA deletions progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000104 MONDO:0000387 False anemia, hypochromic microcytic with iron overload hypochromic microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000104 MONDO:0003847 False anemia, hypochromic microcytic with iron overload hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000105 MONDO:0006506 False anemia, nonspherocytic hemolytic congenital nonspherocytic hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000107 MONDO:0007500 False auriculocondylar syndrome ear malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000108 MONDO:0020573 False bacteremia, susceptibility inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000110 MONDO:0024623 False bifid nose otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19191,6 +19192,8 @@ MONDO:0000626 MONDO:0000643 False vestibular gland benign neoplasm vulvar benign MONDO:0000628 MONDO:0006130 False central nervous system organ benign neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000629 MONDO:0024757 False cardiovascular organ benign neoplasm cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000630 MONDO:0005046 False immune system organ benign neoplasm immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000638 MONDO:0000648 False benign glioma nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000638 MONDO:0021042 False benign glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000639 MONDO:0002129 False cartilage cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000640 MONDO:0005462 False central nervous system primitive neuroectodermal neoplasm primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000660 MONDO:0005084 False akinetopsia mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19958,7 +19961,6 @@ MONDO:0002813 MONDO:0021354 False lipomatous cancer tumor of adipose tissue UNSU MONDO:0002814 MONDO:0001502 False adrenal carcinoma retroperitoneum carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002815 MONDO:0020683 False acute myocarditis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002829 MONDO:0000653 False bartholin gland carcinoma integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002839 MONDO:0045054 False leather-bottle stomach cancer-related condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002840 MONDO:0016129 False eosinophilic gastritis eosinophilic gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002842 MONDO:0043424 False bacterial gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002843 MONDO:0043424 False fungal gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20259,6 +20261,7 @@ MONDO:0003847 MONDO:0700096 False hereditary disease human disease UNSUPPORTED-M MONDO:0003857 MONDO:0005094 False adult intracranial malignant hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003872 MONDO:0002533 False ovarian papillary cystadenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003879 MONDO:0002991 False ovarian endometrioid adenocarcinofibroma adenocarcinofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003899 MONDO:0003681 False adult myxoid chondrosarcoma myxoid chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003900 MONDO:0700096 False connective tissue disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003901 MONDO:0002328 False cerebellar hemangioblastoma intracranial hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003901 MONDO:0021499 False cerebellar hemangioblastoma benign neoplasm of cerebellum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20596,6 +20599,8 @@ MONDO:0004960 MONDO:0005570 False monoclonal gammopathy hematologic disorder UNS MONDO:0004963 MONDO:0005525 False T-cell acute lymphoblastic leukemia T-cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004966 MONDO:0021166 False gastritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004967 MONDO:0005168 False acute lymphoblastic leukemia neoplasm of immature B and T cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004969 MONDO:0005336 False acute quadriplegic myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004969 MONDO:0020683 False acute quadriplegic myopathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004971 MONDO:0004970 False adenoid cystic carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004973 MONDO:0056806 False adenosquamous lung carcinoma non-small cell squamous lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004975 MONDO:0001627 False Alzheimer disease dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -20677,6 +20682,7 @@ MONDO:0005116 MONDO:0043424 False Whipple disease digestive system infectious di MONDO:0005118 MONDO:0004805 False human granulocytic ehrlichiosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005118 MONDO:0025303 False human granulocytic ehrlichiosis anaplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005119 MONDO:0006923 False anthrax infection Bacillaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005121 MONDO:0005113 False Enterococcus faecalis infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005124 MONDO:0020590 False leprosy mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005130 MONDO:0003847 False celiac disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005130 MONDO:0020598 False celiac disease malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20700,6 +20706,8 @@ MONDO:0005156 MONDO:0021166 False encephalomyelitis inflammatory disease UNSUPPO MONDO:0005161 MONDO:0100329 False human papilloma virus infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005172 MONDO:0002081 False skeletal system disorder musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005173 MONDO:0002531 False actinic keratosis skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005174 MONDO:0005468 False acute hypotension hypotensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005174 MONDO:0020683 False acute hypotension acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005180 MONDO:0021095 False Parkinson disease parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005180 MONDO:0100545 False Parkinson disease hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005183 MONDO:0005179 False ovarian cystadenoma ovarian adenoma benign UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20841,11 +20849,18 @@ MONDO:0005404 MONDO:0003939 False myalgic encephalomeyelitis/chronic fatigue syn MONDO:0005404 MONDO:0021094 False myalgic encephalomeyelitis/chronic fatigue syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005404 MONDO:0100545 False myalgic encephalomeyelitis/chronic fatigue syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005406 MONDO:0024575 False gestational diabetes pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005408 MONDO:0005129 False diabetes mellitus type 2 associated cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005412 MONDO:0002866 False duodenal ulcer duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005413 MONDO:0054868 False cystic fibrosis associated meconium ileus meconium ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005413 MONDO:0100086 False cystic fibrosis associated meconium ileus perinatal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005414 MONDO:0005090 False treatment-refractory schizophrenia schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005416 MONDO:0005178 False osteoarthritis, knee osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005417 MONDO:0005150 False wet macular degeneration age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005418 MONDO:0004994 False non-compaction cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005419 MONDO:0005303 False methamphetamine dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005429 MONDO:0024619 False prion disease central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005433 MONDO:0005567 False alcohol withdrawal substance withdrawal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005434 MONDO:0006597 False skin sensitivity to sun photosensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005437 MONDO:0001967 False testicular dysgenesis syndrome gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005437 MONDO:0002329 False testicular dysgenesis syndrome testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005439 MONDO:0037748 False familial hypercholesterolemia hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20853,6 +20868,10 @@ MONDO:0005440 MONDO:0003578 False embryonal carcinoma extragonadal nonseminomato MONDO:0005441 MONDO:0021166 False otitis media inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005445 MONDO:0003847 False visceral leishmaniasis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005446 MONDO:0024610 False cutaneous leishmaniasis parasitic skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005448 MONDO:0005155 False hepatitis C induced liver cirrhosis cirrhosis of liver UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005448 MONDO:0021674 False hepatitis C induced liver cirrhosis post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005449 MONDO:0003939 False conduction system disorder muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005449 MONDO:0024643 False conduction system disorder myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005451 MONDO:0005137 False eating disorder nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005453 MONDO:0024239 False congenital heart disease congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005459 MONDO:0100120 False human African trypanosomiasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20863,6 +20882,7 @@ MONDO:0005467 MONDO:0100366 False occupation-related stress disorder occupationa MONDO:0005468 MONDO:0000473 False hypotensive disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005469 MONDO:0005468 False orthostatic hypotension hypotensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005473 MONDO:0006816 False temporomandibular joint disorder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005476 MONDO:0005449 False atrioventricular node disorder conduction system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005477 MONDO:0007263 False ventricular tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005478 MONDO:0005477 False torsades de pointes ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005479 MONDO:0007263 False atrial tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20900,21 +20920,27 @@ MONDO:0005534 MONDO:0000709 False ileocolitis Crohn ileitis UNSUPPORTED-MISSING MONDO:0005534 MONDO:0005292 False ileocolitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005535 MONDO:0005011 False oral Crohn disease Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005535 MONDO:0006858 False oral Crohn disease mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005536 MONDO:0005101 False pancolitis ulcerative colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005537 MONDO:0002269 False perianal Crohn disease gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005537 MONDO:0005011 False perianal Crohn disease Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005537 MONDO:0024634 False perianal Crohn disease large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005538 MONDO:0002519 False proctitis anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005538 MONDO:0005265 False proctitis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005538 MONDO:0021166 False proctitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005539 MONDO:0005011 False small bowel Crohn disease Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005539 MONDO:0043579 False small bowel Crohn disease enteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005541 MONDO:0045002 False spondylolysis vertebral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005542 MONDO:0002254 False acute coronary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005542 MONDO:0020683 False acute coronary syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005542 MONDO:0024644 False acute coronary syndrome myocardial ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005544 MONDO:0044996 False hippocampal sclerosis of aging cerebral cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005545 MONDO:0024313 False staphylococcus aureus infection staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005546 MONDO:0024317 False fibromyalgia chronic pain syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005546 MONDO:0700007 False fibromyalgia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005549 MONDO:0005086 False renal cell adenocarcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005550 MONDO:0700096 False infectious disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005551 MONDO:0005271 False eye allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005551 MONDO:0005328 False eye allergy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005552 MONDO:0005328 False ocular vascular disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005552 MONDO:0005385 False ocular vascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005557 MONDO:0000226 False calcium metabolic disease mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20929,6 +20955,10 @@ MONDO:0005579 MONDO:0100545 False epilepsy, idiopathic generalized hereditary ne MONDO:0005579 MONDO:0700007 False epilepsy, idiopathic generalized idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005582 MONDO:0005451 False binge eating disorder eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005583 MONDO:0000001 False non-human animal disease disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005584 MONDO:0019512 False congenital left-sided heart lesions congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005588 MONDO:0004842 False chemotherapy-induced oral mucositis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005591 MONDO:0005276 False pit and fissure surface dental caries dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005592 MONDO:0005276 False smooth surface dental caries dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005593 MONDO:0005076 False chronic periodontitis periodontitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005594 MONDO:0005093 False severe cutaneous adverse reaction skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005607 MONDO:0003781 False chronic bronchitis bronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21297,6 +21327,7 @@ MONDO:0006042 MONDO:0000271 False meningeal tuberculosis tuberculous salpingitis MONDO:0006042 MONDO:0005696 False meningeal tuberculosis central nervous system tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006042 MONDO:0006670 False meningeal tuberculosis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006044 MONDO:0002286 False nephrosclerosis renal artery disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006061 MONDO:0000473 False cervical artery dissection arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006065 MONDO:0100345 False lactose intolerance adult type lactose intolerance UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006068 MONDO:0045058 False ACTH-producing pituitary gland adenoma ACTH-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006069 MONDO:0045058 False ACTH-producing pituitary gland carcinoma ACTH-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21426,6 +21457,7 @@ MONDO:0006314 MONDO:0002232 False nasal cavity polyp nasal cavity disorder UNSUP MONDO:0006314 MONDO:0005079 False nasal cavity polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006322 MONDO:0002887 False non-neoplastic bile duct disorder bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006322 MONDO:0005151 False non-neoplastic bile duct disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006323 MONDO:0005070 False non-seminomatous lesion neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006328 MONDO:0005070 False odontogenic cyst neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006329 MONDO:0003142 False olfactory neuroblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006335 MONDO:0005461 False ovarian endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -21532,6 +21564,8 @@ MONDO:0006622 MONDO:0005215 False vulvar seborrheic keratosis vulvar carcinoma U MONDO:0006625 MONDO:0005087 False altitude sickness respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006629 MONDO:0005178 False osteoarthritis, hip osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006630 MONDO:0005178 False osteoarthritis, spine osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006631 MONDO:0005178 False osteoarthritis, toe osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006632 MONDO:0005178 False osteoarthritis, hand osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006633 MONDO:0006032 False acalculous cholecystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006635 MONDO:0006878 False Acinetobacter infectious disease Moraxellaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006636 MONDO:0005113 False Actinobacillus infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22259,6 +22293,7 @@ MONDO:0007676 MONDO:0003847 False glutathione transferase activity toward trans- MONDO:0007677 MONDO:0002118 False hyperglycinuria urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007677 MONDO:0003847 False hyperglycinuria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007679 MONDO:0002254 False GMS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007681 MONDO:0100216 False goiter, multinodular 1, with or without Sertoli-Leydig cell tumors DICER1-related tumor predisposition UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007682 MONDO:0003847 False granddad syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007683 MONDO:0003847 False Grant syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007685 MONDO:0003847 False granulosis rubra nasi hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23405,6 +23440,8 @@ MONDO:0009037 MONDO:0003847 False craniosynostosis with anomalies of the cranial MONDO:0009038 MONDO:0015338 False craniosynostosis-fibular aplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009040 MONDO:0003847 False craniosynostosis-intellectual disability syndrome of 51N and Gettig hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009041 MONDO:0003847 False craniosynostosis-intellectual disability-clefting syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009043 MONDO:0001328 False generalized resistance to thyroid hormone thyroid hormone resistance syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009043 MONDO:0004425 False generalized resistance to thyroid hormone hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009044 MONDO:0002254 False Crigler-Najjar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009045 MONDO:0002254 False cataract-nephropathy-encephalopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009047 MONDO:0003150 False cryptorchidism male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -23449,6 +23486,7 @@ MONDO:0009094 MONDO:0002254 False dermochondrocorneal dystrophy syndromic diseas MONDO:0009097 MONDO:0006025 False persistent hyperplastic primary vitreous, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009098 MONDO:0003847 False dextrocardia with unusual facies and microphthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009099 MONDO:0002254 False nephrogenic diabetes insipidus-intracranial calcification syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009100 MONDO:0010255 False type 1 diabetes mellitus 1 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009102 MONDO:0003847 False diaminopentanuria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009104 MONDO:0015160 False Donnai-Barrow syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009105 MONDO:0005020 False trichohepatoenteric syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -23840,7 +23878,6 @@ MONDO:0009583 MONDO:0000734 False blepharophimosis - intellectual disability syn MONDO:0009584 MONDO:0000508 False intellectual disability, Buenos-Aires type syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009584 MONDO:0002320 False intellectual disability, Buenos-Aires type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009585 MONDO:0024237 False encephalopathy due to beta-mercaptolactate-cysteine disulfiduria inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009586 MONDO:0003847 False mesangial sclerosis, diffuse renal, with ocular abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009587 MONDO:0003847 False mesoaxial hexadactyly and cardiac malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009588 MONDO:0023599 False Langer mesomelic dysplasia mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009589 MONDO:0002254 False mesomelic dwarfism-cleft palate-camptodactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24426,7 +24463,6 @@ MONDO:0010334 MONDO:0000761 False severe motor and intellectual disabilities-sen MONDO:0010335 MONDO:0021155 False X-linked cone-rod dystrophy 3 X-linked cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010335 MONDO:0700243 False X-linked cone-rod dystrophy 3 CACNA1F-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010339 MONDO:0020119 False epilepsy, X-linked 1, with variable learning disabilities and behavior disorders X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010340 MONDO:0100440 False Asperger syndrome, X-linked, susceptibility to, 1 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010348 MONDO:0020573 False dyslexia, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010353 MONDO:0002254 False deafness-intellectual disability, Martin-Probst type syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010354 MONDO:0020119 False Allan-Herndon-Dudley syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS @@ -24900,7 +24936,7 @@ MONDO:0011007 MONDO:0002254 False diaphragmatic defect-limb deficiency-skull def MONDO:0011009 MONDO:0003847 False muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011011 MONDO:0002254 False skeletal dysplasia-epilepsy-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011011 MONDO:0018230 False skeletal dysplasia-epilepsy-short stature syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011014 MONDO:0003847 False pleuropulmonary blastoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011014 MONDO:0100216 False pleuropulmonary blastoma DICER1-related tumor predisposition UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011015 MONDO:0020373 False cataract 24 early-onset anterior polar cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011016 MONDO:0010255 False type 1 diabetes mellitus 11 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011017 MONDO:0005217 False Naxos disease familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25409,6 +25445,8 @@ MONDO:0011745 MONDO:0003847 False duodenojejunal atresia with volvulus, absent d MONDO:0011746 MONDO:0003847 False symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011747 MONDO:0020573 False dyslexia, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011749 MONDO:0008745 False oculocutaneous albinism type 1B oculocutaneous albinism type 1A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011751 MONDO:0003847 False COPD, severe early onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011751 MONDO:0005002 False COPD, severe early onset chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011753 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011754 MONDO:0018541 False familial hyperreninemic hypoaldosteronism type 2 familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011758 MONDO:0002254 False Hurler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -25673,7 +25711,7 @@ MONDO:0012178 MONDO:0003847 False intellectual disability with optic atrophy, fa MONDO:0012179 MONDO:0016158 False narcolepsy 3 narcolepsy-cataplexy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012181 MONDO:0015150 False hereditary spastic paraplegia 27 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012182 MONDO:0003847 False skeletal dysplasia, rhizomelic, with retinitis pigmentosa hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012184 MONDO:0013621 False Pierson syndrome LAMB2-related infantile-onset nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012184 MONDO:0013621 False Pierson syndrome LAMB2-related infantile-onset nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012188 MONDO:0019262 False neuronal ceroid lipofuscinosis 9 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012192 MONDO:0015327 False permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012192 MONDO:0100545 False permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27277,6 +27315,8 @@ MONDO:0015074 MONDO:0002082 False thyroid tumor endocrine gland neoplasm UNSUPPO MONDO:0015084 MONDO:0002254 False FRAXF syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015084 MONDO:0003847 False FRAXF syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015087 MONDO:0000426 False autosomal dominant complex spastic paraplegia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015091 MONDO:0015087 False autosomal dominant spastic paraplegia type 9 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015091 MONDO:0100126 False autosomal dominant spastic paraplegia type 9 P5CS deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015095 MONDO:0011414 False Peters anomaly-cataract syndrome Peters anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015096 MONDO:0008737 False familial hypofibrinogenemia congenital afibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015104 MONDO:0002406 False porphyria cutanea tarda dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -27426,6 +27466,7 @@ MONDO:0015420 MONDO:0021147 False cleft lip and alveolus disorder of development MONDO:0015425 MONDO:0003847 False lethal recessive chondrodysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015425 MONDO:0022723 False lethal recessive chondrodysplasia chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015426 MONDO:0003847 False Desbuquois dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015429 MONDO:0019118 False choroideremia-hypopituitarism syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015430 MONDO:0700008 False ring chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015430 MONDO:0700091 False ring chromosome 1 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015431 MONDO:0002254 False ring chromosome 10 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27505,6 +27546,7 @@ MONDO:0015565 MONDO:0005265 False cap polyposis inflammatory bowel disease UNSUP MONDO:0015567 MONDO:0002254 False cataract-glaucoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015567 MONDO:0024458 False cataract-glaucoma syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015568 MONDO:0024623 False isolated congenital nasal pyriform aperture stenosis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015569 MONDO:0024623 False congenital nasal pyriform aperture stenosis with holoprosencephaly otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015573 MONDO:0005282 False subacute cutaneous lupus erythematosus cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015573 MONDO:0020683 False subacute cutaneous lupus erythematosus acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015574 MONDO:0005282 False chronic cutaneous lupus erythematosus cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27908,6 +27950,7 @@ MONDO:0016393 MONDO:0011323 False hyposmia-nasal and ocular hypoplasia-hypogonad MONDO:0016395 MONDO:0019118 False foveal hypoplasia-presenile cataract syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016396 MONDO:0015327 False pontocerebellar hypoplasia type 1 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016396 MONDO:0019502 False pontocerebellar hypoplasia type 1 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016412 MONDO:0016408 False peripheral hypothyroidism permanent congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016414 MONDO:0002254 False hypotrichosis-intellectual disability, Lopes type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016416 MONDO:0003150 False diphallia male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016416 MONDO:0021147 False diphallia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28246,6 +28289,7 @@ MONDO:0017084 MONDO:0018075 False leptomyelolipoma neural tube defect UNSUPPORTE MONDO:0017094 MONDO:0005560 False cerebral cortical dysplasia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017094 MONDO:0021147 False cerebral cortical dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017103 MONDO:0005560 False encephaloclastic disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017106 MONDO:0020134 False retrocerebellar cyst cystic malformation of the posterior fossa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017123 MONDO:0008823 False arthrogryposis-renal dysfunction-cholestasis syndrome arthrogryposis multiplex congenita 2, neurogenic type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0017123 MONDO:0015327 False arthrogryposis-renal dysfunction-cholestasis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017124 MONDO:0005113 False noma bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -28431,6 +28475,7 @@ MONDO:0017443 MONDO:0018230 False congenital absence of both forearm and hand sk MONDO:0017444 MONDO:0018230 False congenital absence of both lower leg and foot skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017445 MONDO:0018230 False acheiria skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017446 MONDO:0018230 False apodia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017449 MONDO:0018234 False split hand dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017450 MONDO:0018234 False split foot dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017452 MONDO:0017424 False non-syndromic brachydactyly of toes non-syndromic brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017453 MONDO:0025371 False fetal parvovirus syndrome Parvoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28446,8 +28491,22 @@ MONDO:0017474 MONDO:0021147 False macrodactyly of fingers disorder of developmen MONDO:0017475 MONDO:0021147 False macrodactyly of toes disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017476 MONDO:0021147 False upper limb hypertrophy disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017477 MONDO:0021147 False lower limb hypertrophy disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017481 MONDO:0017438 False amelia of lower limb, bilateral amelia of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017491 MONDO:0010144 False tibial hemimelia, bilateral tibial hemimelia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017503 MONDO:0017445 False acheiria, bilateral acheiria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017505 MONDO:0017446 False apodia, bilateral apodia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017510 MONDO:0018563 False adactyly of foot, bilateral adactyly of foot UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017512 MONDO:0017449 False split hand, bilateral split hand UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017514 MONDO:0017450 False split foot, bilateral split foot UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017516 MONDO:0017451 False brachydactyly of fingers, bilateral non-syndromic brachydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017518 MONDO:0017452 False brachydactyly of toes, bilateral non-syndromic brachydactyly of toes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017520 MONDO:0015516 False symbrachydactyly of hand and foot, bilateral symbrachydactyly of hands and feet UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017528 MONDO:0008271 False polydactyly of an index finger, bilateral polydactyly of an index finger UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017536 MONDO:0017456 False central polydactyly of fingers, bilateral central polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017538 MONDO:0017457 False Preaxial polydactyly of toes, bilateral Preaxial polydactyly of toes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017549 MONDO:0017983 False humero-radio-ulnar synostosis, bilateral humero-radio-ulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017557 MONDO:0018154 False Madelung deformity, bilateral Madelung deformity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017563 MONDO:0017471 False congenital patella dislocation, bilateral congenital patella dislocation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017571 MONDO:0002051 False Proteus-like syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017572 MONDO:0025294 False tick-borne encephalitis tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017573 MONDO:0002254 False 46,XX disorder of sex development-anorectal anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28669,6 +28728,7 @@ MONDO:0017995 MONDO:0015159 False spondylocostal dysostosis-hypospadias-intellec MONDO:0017999 MONDO:0015905 False fatty acid hydroxylase-associated neurodegeneration syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018000 MONDO:0009332 False hereditary thrombocytosis with transverse limb defect congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018001 MONDO:0024296 False inverse Klippel-Trenaunay syndrome vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018003 MONDO:0015588 False limbic encephalitis with DPP6 antibodies limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018007 MONDO:0700086 False mosaic genome-wide paternal uniparental disomy uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018008 MONDO:0005110 False idiopathic giant cell myocarditis idiopathic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018008 MONDO:0023232 False idiopathic giant cell myocarditis giant cell myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28781,7 +28841,7 @@ MONDO:0018181 MONDO:0005545 False staphylococcal scalded skin syndrome staphyloc MONDO:0018181 MONDO:0024295 False staphylococcal scalded skin syndrome skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018182 MONDO:0024295 False bullous impetigo skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018183 MONDO:0005087 False staphylococcal necrotizing pneumonia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018184 MONDO:0005017 False gastric linitis plastica diffuse gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018184 MONDO:0045054 False gastric linitis plastica cancer-related condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018190 MONDO:0019079 False autosomal dominant childhood-onset proximal spinal muscular atrophy proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018192 MONDO:0005447 False paratesticular adenocarcinoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018198 MONDO:0020683 False acute encephalopathy with biphasic seizures and late reduced diffusion acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29937,6 +29997,9 @@ MONDO:0020384 MONDO:0001982 False Niemann-Pick disease type E Niemann-Pick disea MONDO:0020398 MONDO:0005852 False congenital mitral stenosis mitral valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020398 MONDO:0042966 False congenital mitral stenosis inherited mitral valve disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020404 MONDO:0002254 False shone complex syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020421 MONDO:0015203 False coronary artery intramyocardial course coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020422 MONDO:0015203 False aortopulmonary coronary arterial course coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020424 MONDO:0015203 False intramural coronary arterial course coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020435 MONDO:0002254 False atrial septal defect, coronary sinus type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020446 MONDO:0005385 False coronary sinus stenosis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020446 MONDO:0021147 False coronary sinus stenosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30018,6 +30081,7 @@ MONDO:0020577 MONDO:0018202 False childhood gonadal germ cell tumor gonadal germ MONDO:0020579 MONDO:0021166 False mucositis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020582 MONDO:0000636 False benign uterine ligament neoplasm musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020582 MONDO:0000644 False benign uterine ligament neoplasm cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020583 MONDO:0020049 False chromosome 17 disorder autosomal anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020584 MONDO:0002280 False anemia due to enzyme disorder anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020585 MONDO:0020584 False anemia due to erythrocyte enzyme disorder anemia due to enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020586 MONDO:0002242 False factor V deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30058,6 +30122,8 @@ MONDO:0020647 MONDO:0003847 False microcephaly, facial dysmorphism, renal agenes MONDO:0020648 MONDO:0020068 False rubella encephalitis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020648 MONDO:0021674 False rubella encephalitis post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020649 MONDO:0004433 False warty carcinoma of the penis papillary carcinoma of the penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020650 MONDO:0005040 False germ cell tumor of the vulva germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020650 MONDO:0021049 False germ cell tumor of the vulva vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020655 MONDO:0005306 False juvenile ankylosing spondylitis ankylosing spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020657 MONDO:0017341 False human papillomavirus-related squamous cell carcinoma virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020658 MONDO:0004010 False infiltrating ureter transitional cell carcinoma infiltrating renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30095,6 +30161,8 @@ MONDO:0020693 MONDO:0005154 False glycogen storage disease due to liver phosphor MONDO:0020695 MONDO:0006497 False hypotonic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020696 MONDO:0005066 False vitamin B12 deficiency metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020696 MONDO:0042976 False vitamin B12 deficiency vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020699 MONDO:0045022 False biotin metabolic disease disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020699 MONDO:0056803 False biotin metabolic disease sulfur metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020702 MONDO:0000426 False autosomal dominant epidermolytic ichthyosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020702 MONDO:0007239 False autosomal dominant epidermolytic ichthyosis epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020703 MONDO:0020076 False erythroid neoplasm myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30132,6 +30200,7 @@ MONDO:0020745 MONDO:0000426 False ventricular arrhythmias due to cardiac ryanodi MONDO:0020745 MONDO:0007263 False ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020745 MONDO:0100547 False ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome cardiogenetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020746 MONDO:0009926 False contractures, pterygia, and variable skeletal fusions syndrome 1B autosomal recessive multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0020752 MONDO:0020573 False myoclonic epilepsy, juvenile, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020753 MONDO:0005718 False Orthocoronavirinae infectious disease Coronaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020754 MONDO:0005020 False visceral myopathy 1 intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020756 MONDO:0100254 False migraine, familial hemiplegic, 1 CACNA1A-related complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30328,6 +30397,7 @@ MONDO:0021181 MONDO:0001531 False inherited blood coagulation disorder blood coa MONDO:0021181 MONDO:0003847 False inherited blood coagulation disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021183 MONDO:0021184 False HTLV-2 infection deltaretrovirus infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021184 MONDO:0100329 False deltaretrovirus infections primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021189 MONDO:0005020 False intestinal motility disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021190 MONDO:0019052 False DNA repair disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021192 MONDO:0021223 False odontogenic neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021201 MONDO:0002406 False skin infection dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30545,6 +30615,7 @@ MONDO:0021666 MONDO:0021205 False ear infection disorder of ear UNSUPPORTED-MISS MONDO:0021667 MONDO:0005244 False neuralgia peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021667 MONDO:0700057 False neuralgia neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021669 MONDO:0700096 False post-infectious disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021673 MONDO:0021669 False post-bacterial disorder post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021674 MONDO:0021669 False post-viral disorder post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021677 MONDO:0021667 False post-infectious neuralgia neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021677 MONDO:0021674 False post-infectious neuralgia post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30689,6 +30760,8 @@ MONDO:0022140 MONDO:0002254 False Charles bonnet syndrome syndromic disease UNSU MONDO:0022151 MONDO:0005287 False Chitty Hall Webb syndrome developmental disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022177 MONDO:0700029 False chromosome 13q trisomy partial duplication of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022178 MONDO:0700020 False chromosome 13q-mosaicism chromosome 13 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022180 MONDO:0700023 False chromosome 16 trisomy chromosome 16 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022180 MONDO:0700065 False chromosome 16 trisomy trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022196 MONDO:0004966 False chronic erosive gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022205 MONDO:0005083 False pustular psoriasis psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022208 MONDO:0006816 False crystal arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30706,6 +30779,7 @@ MONDO:0022323 MONDO:0006525 False 2-hydroxyethyl methacrylate sensitization alle MONDO:0022330 MONDO:0005020 False 4-hydroxyphenylacetic aciduria intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022330 MONDO:0019052 False 4-hydroxyphenylacetic aciduria inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022333 MONDO:0019052 False 5-nucleotidase syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022337 MONDO:0002254 False AIDS dysmorphic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022349 MONDO:0008428 False congenital absence of septum pellucidum septooptic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022349 MONDO:0021147 False congenital absence of septum pellucidum disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022357 MONDO:0002254 False congenital acardia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30722,8 +30796,11 @@ MONDO:0022430 MONDO:0024239 False persistent fetal circulation syndrome congenit MONDO:0022432 MONDO:0019287 False alves Castelo dos Santos syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022435 MONDO:0002254 False Mauriac syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022453 MONDO:0006499 False angiomyomatous hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022509 MONDO:0002254 False asternia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022510 MONDO:0002254 False atlanto-axial fusion syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022513 MONDO:0002254 False atrophoderma of Pierini and Pasini syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022518 MONDO:0000587 False autoimmune inner ear disease autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022518 MONDO:0002467 False autoimmune inner ear disease inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022519 MONDO:0030701 False autoimmune myocarditis autoimmune cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0022535 MONDO:0005269 False autonomic facial cephalgia carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022538 MONDO:0002021 False leukoplakia of gingiva gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30733,6 +30810,7 @@ MONDO:0022555 MONDO:0002254 False Beardwell syndrome syndromic disease UNSUPPORT MONDO:0022557 MONDO:0002427 False Behrens Baumann dust syndrome cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022557 MONDO:0016073 False Behrens Baumann dust syndrome syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022557 MONDO:0100545 False Behrens Baumann dust syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022560 MONDO:0001572 False benign metastasizing leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022567 MONDO:0002254 False bhaskar jagannathan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022567 MONDO:0005129 False bhaskar jagannathan syndrome cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022568 MONDO:0002254 False bidirectional tachycardia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30743,14 +30821,20 @@ MONDO:0022618 MONDO:0006687 False burning mouth syndrome type 3 burning mouth sy MONDO:0022633 MONDO:0002254 False camptodactyly joint contractures and facial skeletal dysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022634 MONDO:0002254 False camptodactyly vertebral fusion syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022642 MONDO:0005369 False childhood carcinoid tumor carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022653 MONDO:0004994 False cardiomyopathy due to anthracyclines cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022654 MONDO:0002254 False cardiomyopathy hypogonadism collagenoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022673 MONDO:0022672 False autosomal dominant non-nuclear cataract autosomal dominant cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022685 MONDO:0002254 False cerebellar agenesis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022687 MONDO:0002427 False cerebellar degeneration cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0022687 MONDO:0005559 False cerebellar degeneration neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0022699 MONDO:0001168 False cerebral palsy spastic hemiplegic spastic hemiplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022700 MONDO:0001169 False cerebral palsy spastic monoplegic spastic monoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022712 MONDO:0002254 False oculo digital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022714 MONDO:0019142 False chester porphyria inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022715 MONDO:0000115 False Chiari malformation type 3 Chiari malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022716 MONDO:0000115 False Chiari malformation type 4 Chiari malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022723 MONDO:0002254 False chondrodysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022734 MONDO:0002254 False chorioretinopathy dominant form microcephaly syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022735 MONDO:0005262 False choroid plexus cyst central nervous system cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022736 MONDO:0005275 False occupational lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022736 MONDO:0100366 False occupational lung disease occupational disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30771,14 +30855,22 @@ MONDO:0022759 MONDO:0700065 False trisomy 22 trisomy UNSUPPORTED-MISSING UNSUPPO MONDO:0022760 MONDO:0000761 False chromosome 22q deletion syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022761 MONDO:0002254 False chromosome 3 duplication syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022761 MONDO:0700010 False chromosome 3 duplication syndrome chromosome 3 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022790 MONDO:0002254 False cleft tongue syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022792 MONDO:0000812 False coccygodynia vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022792 MONDO:0700057 False coccygodynia neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022799 MONDO:0005492 False cold urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022800 MONDO:0002254 False type 2 collagenopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022800 MONDO:0004603 False type 2 collagenopathy collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022800 MONDO:0018230 False type 2 collagenopathy skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022800 MONDO:0023603 False type 2 collagenopathy hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022805 MONDO:0002254 False colonic malakoplakia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022812 MONDO:0002254 False complement receptor deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022812 MONDO:0003832 False complement receptor deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022815 MONDO:0002254 False congenital absence of the sternocleidomastoid muscle syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022817 MONDO:0002254 False congenital amputation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022820 MONDO:0002254 False congenital articular rigidity syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022822 MONDO:0002254 False congenital cardiovascular shunt syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022823 MONDO:0002254 False congenital contractures syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022825 MONDO:0002254 False congenital cystic eye syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022839 MONDO:0005109 False congenital human immunodeficiency virus HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022851 MONDO:0002254 False Dennis-Fairhurst-Moore syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30791,6 +30883,7 @@ MONDO:0022932 MONDO:0002254 False Davenport-Donlan syndrome syndromic disease UN MONDO:0022934 MONDO:0002254 False Davis Lafer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022936 MONDO:0002254 False de Hauwere Leroy adriaenssens syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022948 MONDO:0001083 False Deal Barratt Dillon syndrome Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022968 MONDO:0002254 False dextrocardia with situs inversus syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022972 MONDO:0000620 False diabetic mastopathy breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022983 MONDO:0005380 False Dieterich disease osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022986 MONDO:0005070 False diffuse idiopathic pulmonary neuroendocrine cell hyperplasia neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30800,6 +30893,8 @@ MONDO:0022993 MONDO:0040870 False dipsogenic diabetes insipidus primary polydips MONDO:0022998 MONDO:0002320 False distal arthrogryposis Moore weaver type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022998 MONDO:0008779 False distal arthrogryposis Moore weaver type arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022998 MONDO:0019942 False distal arthrogryposis Moore weaver type distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023002 MONDO:0002254 False double discordia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023005 MONDO:0002254 False double uterus-hemivagina-renal agenesis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023007 MONDO:0002254 False Drachtman Weinblatt Sitarz syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023007 MONDO:0003225 False Drachtman Weinblatt Sitarz syndrome bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023011 MONDO:0005275 False Wilson-Mikity syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30813,13 +30908,16 @@ MONDO:0023043 MONDO:0019287 False ectodermal dysplasia alopecia preaxial polydac MONDO:0023050 MONDO:0002254 False ectrodactyly cardiopathy dysmorphism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023054 MONDO:0006496 False klumpke's paralysis palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023059 MONDO:0002254 False Elliott ludman Teebi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023067 MONDO:0005055 False endemic Kaposi sarcoma Kaposi's sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023069 MONDO:0002254 False enlarged vestibular aqueduct syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0023069 MONDO:0024654 False enlarged vestibular aqueduct syndrome skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023073 MONDO:0006032 False eosinophilic cryptitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023076 MONDO:0006552 False eosinophilic pustular folliculitis folliculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023076 MONDO:0006617 False eosinophilic pustular folliculitis vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023089 MONDO:0005070 False erythroplakia neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023093 MONDO:0021146 False exertional headache headache disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023094 MONDO:0001910 False exogenous ochronosis ochronosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023098 MONDO:0002254 False extrasystoles short stature hyperpigmentation microcephaly syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023106 MONDO:0005516 False Fairbank disease osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023111 MONDO:0002254 False familial capillaro-venous leptomeningeal angiomatosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023119 MONDO:0009692 False familial myelofibrosis primary myelofibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30864,11 +30962,13 @@ MONDO:0023267 MONDO:0002254 False goldstein hutt syndrome syndromic disease UNSU MONDO:0023275 MONDO:0002367 False Graham-Boyle-Troxell syndrome kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023275 MONDO:0008903 False Graham-Boyle-Troxell syndrome lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023275 MONDO:0021540 False Graham-Boyle-Troxell syndrome hamartoma of lung UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023282 MONDO:0021156 False granulomatous hypophysitis hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023286 MONDO:0002771 False graphite pneumoconiosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023286 MONDO:0015926 False graphite pneumoconiosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023288 MONDO:0002254 False green sandford davison syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023305 MONDO:0029000 False heavy metal poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023368 MONDO:0002254 False Ho-Kaufman-McAlister syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023369 MONDO:0024654 False disorder of facial skeleton skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023388 MONDO:0005093 False pityriasis rotunda skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023415 MONDO:0002026 False congenital candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023419 MONDO:0017355 False hyperprolinemia inborn disorder of proline metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31008,6 +31108,7 @@ MONDO:0024303 MONDO:0001191 False external hirudiniasis hirudiniasis UNSUPPORTED MONDO:0024304 MONDO:0015947 False ichthyosis vulgaris inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024305 MONDO:0005804 False acquired hyperprolactinemia hyperprolactinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024306 MONDO:0006040 False acquired lactic acidosis lactic acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024307 MONDO:0002243 False prothrombin deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024308 MONDO:0002051 False pseudoxanthoma elasticum (inherited or acquired) integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024310 MONDO:0002322 False angiodysplasia of stomach angiodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024310 MONDO:0004298 False angiodysplasia of stomach stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31031,6 +31132,7 @@ MONDO:0024330 MONDO:0021666 False infectious otitis media ear infection UNSUPPOR MONDO:0024332 MONDO:0011786 False perennial allergic rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024333 MONDO:0006960 False sciatica sciatic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024333 MONDO:0021667 False sciatica neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024334 MONDO:0005244 False peripheral nerve lesion peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024335 MONDO:0005885 False retrobulbar neuritis optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024340 MONDO:0021231 False retinal neuroblastoma retina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024343 MONDO:0006547 False pityriasis simplex exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31111,6 +31213,8 @@ MONDO:0024493 MONDO:0024497 False tumor grade 3, general grading system tumor gr MONDO:0024494 MONDO:0024497 False tumor grade 4, general grading system tumor grade 3 or 4, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024496 MONDO:0024489 False tumor grade 2 or 3, general grading system general tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024497 MONDO:0024489 False tumor grade 3 or 4, general grading system general tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024500 MONDO:0018510 False duodenal neuroendocrine neoplasm small intestine neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024500 MONDO:0021375 False duodenal neuroendocrine neoplasm tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024501 MONDO:0002882 False appendix neuroendocrine neoplasm colon neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024504 MONDO:0021535 False enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024506 MONDO:0019713 False Adams-Oliver syndrome 1 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31211,6 +31315,8 @@ MONDO:0024877 MONDO:0021049 False clitoris neoplasm vulvar neoplasm UNSUPPORTED- MONDO:0024882 MONDO:0023370 False secondary neoplasm neoplastic disease or syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024883 MONDO:0024882 False metastatic neoplasm secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024884 MONDO:0002415 False metastatic carcinoma in the bone bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024888 MONDO:0005626 False mesonephric neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024888 MONDO:0021163 False mesonephric neoplasm kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024889 MONDO:0002513 False benign mesonephroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024889 MONDO:0024888 False benign mesonephroma mesonephric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024889 MONDO:0036976 False benign mesonephroma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31367,9 +31473,11 @@ MONDO:0025598 MONDO:0005701 False pneumonia caused by chlamydia chlamydia tracho MONDO:0025598 MONDO:0041850 False pneumonia caused by chlamydia pneumonia caused by gram negative bacteria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025622 MONDO:0015626 False Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0025667 MONDO:0000942 False limbal stem cell deficiency corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0025956 MONDO:0005558 False ovarian remnant syndrome ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025986 MONDO:0002254 False megacystis-microcolon-intestinal hypoperistalsis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025986 MONDO:0003847 False megacystis-microcolon-intestinal hypoperistalsis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025986 MONDO:0021189 False megacystis-microcolon-intestinal hypoperistalsis syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0026045 MONDO:0005093 False prurigo nodularis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026404 MONDO:0100209 False X inactivation, familial skewed, 1 X inactivation, familial skewed UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026426 MONDO:0100209 False X inactivation, familial skewed, 2 X inactivation, familial skewed UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026730 MONDO:0002254 False Basilicata-Akhtar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -31378,6 +31486,8 @@ MONDO:0026777 MONDO:0023603 False VEXAS syndrome hereditary disorder of connecti MONDO:0027026 MONDO:0002149 False Buschke Lowenstein tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027026 MONDO:0005647 False Buschke Lowenstein tumor anogenital human papillomavirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027026 MONDO:0006006 False Buschke Lowenstein tumor verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0027029 MONDO:0005949 False HHV-6 encephalitis roseolovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0027029 MONDO:0006009 False HHV-6 encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027068 MONDO:0100134 False mitochondrial complex 1 deficiency, mitochondrial type 1 mitochondrial complex I deficiency, mitochondrial type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027091 MONDO:0006969 False xanthogranulomatous sialadenitis sialadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027451 MONDO:0019573 False autosomal recessive cutis laxa type 2D autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32043,6 +32153,7 @@ MONDO:0042496 MONDO:0042497 False ergotism mycotoxicosis UNSUPPORTED-MISSING UNS MONDO:0042497 MONDO:0002041 False mycotoxicosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042497 MONDO:0029000 False mycotoxicosis poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042498 MONDO:0002254 False Ruzicka-Goerz-Anton syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042600 MONDO:0002254 False Sammartino-Decreccio syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042601 MONDO:0002254 False Samson-Gardner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042602 MONDO:0002254 False Samson-Viljoen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042603 MONDO:0002254 False Sanderson-Fraser syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32496,6 +32607,7 @@ MONDO:0044921 MONDO:0016537 False atypical lymphoproliferative disorder lymphopr MONDO:0044921 MONDO:0060782 False atypical lymphoproliferative disorder premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044925 MONDO:0006181 False oral cavity carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044937 MONDO:0024476 False rectal carcinoma epithelial neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044970 MONDO:0700096 False mitochondrial disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044972 MONDO:0004805 False eosinophil disorder leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044981 MONDO:0000605 False pseudoallergy hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044982 MONDO:0044981 False drug pseudoallergy pseudoallergy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32537,6 +32649,7 @@ MONDO:0045037 MONDO:0002312 False hyalohyphomycosis opportunistic mycosis UNSUPP MONDO:0045038 MONDO:0000254 False cutaneous basidiobolomycosis cutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045038 MONDO:0000302 False cutaneous basidiobolomycosis basidiobolomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045039 MONDO:0000302 False systemic basidiobolomycosis basidiobolomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045042 MONDO:0045040 False restricted to specific location locational disease characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045043 MONDO:0045044 False disorder of uterine broad ligament ligament disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045044 MONDO:0002081 False ligament disorder musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045045 MONDO:0001342 False selective IgG immunodeficiency dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32687,8 +32800,13 @@ MONDO:0060781 MONDO:0060779 False Preeyasombat-Varavithya syndrome acquired Fanc MONDO:0060782 MONDO:0005570 False premalignant hematological system disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060782 MONDO:0021074 False premalignant hematological system disease precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060783 MONDO:0018479 False classic congenital adrenal hyperplasia congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100001 MONDO:0005271 False alpha-gal syndrome allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100002 MONDO:0000777 False food protein-induced allergic proctocolitis gastrointestinal allergy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100002 MONDO:0024278 False food protein-induced allergic proctocolitis proctocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100003 MONDO:0020573 False susceptibility to angioedema induced by ACE inhibitors inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100004 MONDO:0004805 False mast cell activation syndrome leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100006 MONDO:0100004 False secondary mast cell activation syndrome mast cell activation syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100008 MONDO:0009172 False food protein-induced enterocolitis syndrome enterocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100010 MONDO:0002081 False tendinopathy musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100010 MONDO:0003900 False tendinopathy connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100011 MONDO:0100010 False tendinosis tendinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32698,28 +32816,53 @@ MONDO:0100014 MONDO:0005283 False autoimmune retinopathy retinal disorder UNSUPP MONDO:0100017 MONDO:0006547 False pityriasis rubra pilaris exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100017 MONDO:0019270 False pityriasis rubra pilaris erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100025 MONDO:0100022 False epilepsy of infancy with migrating focal seizures neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100028 MONDO:0005027 False immune epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100033 MONDO:0005027 False metabolic epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100034 MONDO:0005528 False cerebral folate deficiency inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100034 MONDO:0100033 False cerebral folate deficiency metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100034 MONDO:0100545 False cerebral folate deficiency hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100035 MONDO:0005027 False structural epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100038 MONDO:0700092 False complex neurodevelopmental disorder neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100042 MONDO:0007263 False cardiac conduction defect cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100043 MONDO:0020573 False epidermodysplasia verruciformis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100044 MONDO:0008715 False acrofrontofacionasal dysostosis 1 acrofrontofacionasal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100046 MONDO:0020573 False exfoliation syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100048 MONDO:0020573 False graft-versus-host disease, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100051 MONDO:0100004 False idiopathic mast cell activation syndrome mast cell activation syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100051 MONDO:0700007 False idiopathic mast cell activation syndrome idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100053 MONDO:0000605 False anaphylaxis hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100054 MONDO:0100053 False idiopathic anaphylaxis anaphylaxis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100054 MONDO:0700007 False idiopathic anaphylaxis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100056 MONDO:0100053 False exercise-induced anaphylaxis anaphylaxis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100057 MONDO:0100056 False food-dependent exercise-induced anaphylaxis exercise-induced anaphylaxis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100058 MONDO:0019242 False hypervalinemia and hyperleucine-isoleucinemia inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100059 MONDO:0015691 False hypereosinophilia of undetermined significance hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100062 MONDO:0005579 False developmental and epileptic encephalopathy epilepsy, idiopathic generalized UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0100062 MONDO:0100022 False developmental and epileptic encephalopathy neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100062 MONDO:0100038 False developmental and epileptic encephalopathy complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100062 MONDO:0100500 False developmental and epileptic encephalopathy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100064 MONDO:0019219 False tyrosine hydroxylase deficiency inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100070 MONDO:0005071 False neuroendocrine disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100070 MONDO:0005151 False neuroendocrine disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100071 MONDO:0002254 False cardiocutaneous syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100073 MONDO:0005545 False methicillin-resistant staphylococcus aureus infectious disease staphylococcus aureus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100075 MONDO:0005315 False jaw fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100076 MONDO:0000726 False juvenile idiopathic scoliosis idiopathic scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100077 MONDO:0020295 False congenital alveolar dysplasia congenital pulmonary veins anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100078 MONDO:0005044 False resistant hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100081 MONDO:0005071 False sleep disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100083 MONDO:0011071 False hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 hereditary thrombocytopenia and hematologic cancer predisposition syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100085 MONDO:0024311 False cancer of long bone of upper limb cancer affecting bone of limb skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100086 MONDO:0700096 False perinatal disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100087 MONDO:0004975 False familial Alzheimer disease Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100089 MONDO:0003847 False GATA1-Related X-Linked Cytopenia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100089 MONDO:0005570 False GATA1-Related X-Linked Cytopenia hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100091 MONDO:0003847 False inherited pseudoxanthoma elasticum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100091 MONDO:0024308 False inherited pseudoxanthoma elasticum pseudoxanthoma elasticum (inherited or acquired) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100094 MONDO:0002254 False cannabinoid hyperemesis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100095 MONDO:0024237 False neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100111 MONDO:0003847 False focal segmental glomerulosclerosis and neurodevelopmental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100114 MONDO:0005150 False dry age related macular degeneration age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100115 MONDO:0020683 False acute flaccid myelitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100116 MONDO:0005087 False Middle East respiratory syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100118 MONDO:0003847 False hereditary skin disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32739,23 +32882,33 @@ MONDO:0100156 MONDO:0006025 False Imerslund-Grasbeck syndrome type 1 autosomal r MONDO:0100157 MONDO:0006025 False Imerslund-Grasbeck syndrome type 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100159 MONDO:0005149 False pulmonary hypertension, neonatal pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100160 MONDO:0006022 False alcoholic ketoacidosis acidosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100161 MONDO:0001909 False hyperkalemic renal tubular acidosis renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100163 MONDO:0035375 False COVID-19–associated multisystem inflammatory syndrome in children multisystem inflammatory syndrome in children and adults UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100164 MONDO:0017688 False permanent neonatal diabetes mellitus disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100165 MONDO:0006025 False permanent neonatal diabetes mellitus 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100167 MONDO:0020573 False pulmonary disease, chronic obstructive, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100168 MONDO:0007608 False desmoid tumor caused by somatic mutation desmoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100170 MONDO:0020573 False restless legs syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100172 MONDO:0000426 False intellectual disability, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100172 MONDO:0001071 False intellectual disability, autosomal dominant intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100172 MONDO:0100545 False intellectual disability, autosomal dominant hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100173 MONDO:0015356 False leukemia, acute myeloid, susceptibility to hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100177 MONDO:0020573 False allergic rhinitis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100180 MONDO:0020573 False diabetes mellitus, ketosis-prone inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100182 MONDO:0020573 False schizophrenia, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100183 MONDO:0020573 False radioulnar synostosis, nonsyndromic, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100184 MONDO:0045014 False GTP cyclohydrolase I deficiency tetrahydrobiopterin metabolic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100185 MONDO:0005046 False immune reconstitution inflammatory syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100185 MONDO:0021166 False immune reconstitution inflammatory syndrome inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100186 MONDO:0100184 False GTP cyclohydrolase I deficiency with hyperphenylalaninemia GTP cyclohydrolase I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100187 MONDO:0002203 False opioid-induced constipation constipation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100190 MONDO:0004298 False gastric intestinal metaplasia stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100190 MONDO:0021074 False gastric intestinal metaplasia precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100192 MONDO:0005154 False liver failure liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100193 MONDO:0100192 False chronic liver failure liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100201 MONDO:0000812 False lumbar disk disease vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100202 MONDO:0020573 False lumbar disk herniation, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100206 MONDO:0020573 False lumbar disk degeneration, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100210 MONDO:0003847 False growth hormone insensitivity syndrome with immune dysregulation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100210 MONDO:0015892 False growth hormone insensitivity syndrome with immune dysregulation growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100211 MONDO:0005046 False growth hormone insensitivity with immune dysregulation 1, autosomal recessive immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -32765,6 +32918,8 @@ MONDO:0100214 MONDO:0015925 False Rajab interstitial lung disease with brain cal MONDO:0100215 MONDO:0006025 False Rajab interstitial lung disease with brain calcifications 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100224 MONDO:0009637 False mitochondrial complex I deficiency, nuclear type 1 inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100226 MONDO:0100081 False parasomnia, sleepwalking type sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100228 MONDO:0020121 False LAMA2-related muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100231 MONDO:0100232 False psoriatic arthritis, susceptibility to, 1 psoriatic arthritis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100232 MONDO:0020573 False psoriatic arthritis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100233 MONDO:0100320 False long COVID-19 post-COVID-19 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100234 MONDO:0000190 False paroxysmal familial ventricular fibrillation ventricular fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32790,15 +32945,26 @@ MONDO:0100252 MONDO:0018891 False tumoral calcinosis, hyperphosphatemic, familia MONDO:0100253 MONDO:0019713 False Roberts-SC phocomelia syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100255 MONDO:0019502 False adenosine kinase deficiency autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0100280 MONDO:0019052 False Waldenstrom macroglobulinemia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100284 MONDO:0000425 False X-linked intellectual disability X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100284 MONDO:0001071 False X-linked intellectual disability intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100284 MONDO:0100545 False X-linked intellectual disability hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100285 MONDO:0008867 False extrahepatic biliary atresia biliary atresia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100286 MONDO:0001577 False respiratory syncytial virus bronchiolitis respiratory syncytial virus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100286 MONDO:0002465 False respiratory syncytial virus bronchiolitis bronchiolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100288 MONDO:0020248 False enhanced S-cone syndrome vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100289 MONDO:0020248 False Goldmann-Favre syndrome vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100295 MONDO:0020573 False Alzheimer disease, susceptibility to, mitochondrial inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100301 MONDO:0015356 False hemangioma, capillary infantile, susceptibility to hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100303 MONDO:0958184 False ichthyosis, annular epidermolytic 1 epidermolytic hyperkeratosis 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100309 MONDO:0100308 False hereditary ataxia atactic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100309 MONDO:0100545 False hereditary ataxia hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100310 MONDO:0000437 False hereditary cerebellar ataxia cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100310 MONDO:0100309 False hereditary cerebellar ataxia hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100311 MONDO:0100308 False sensory ataxia atactic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100312 MONDO:0100311 False vestibular ataxia sensory ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100317 MONDO:0023603 False deficiency of adenosine deaminase 2 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100317 MONDO:0957408 False deficiency of adenosine deaminase 2 type 1 interferonopathy of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100324 MONDO:0100313 False primary focal segmental glomerulosclerosis focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100326 MONDO:0000009 False Glanzmann thrombasthenia inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0100327 MONDO:0019218 False hypercholanemia, familial inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100328 MONDO:0003847 False microcephaly, epilepsy, and diabetes syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32811,6 +32977,7 @@ MONDO:0100348 MONDO:0006025 False neurodevelopmental disorder with microcephaly, MONDO:0100348 MONDO:0100500 False neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100349 MONDO:0021147 False COACH syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100352 MONDO:0100556 False episodic kinesigenic dyskinesia 1 PRRT2-associated paroxysmal movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100366 MONDO:0700096 False occupational disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100370 MONDO:0005344 False acute hepatitis B virus infection hepatitis B virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100370 MONDO:0020683 False acute hepatitis B virus infection acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100371 MONDO:0005231 False acute hepatitis C virus infection hepatitis C virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32819,6 +32986,7 @@ MONDO:0100428 MONDO:0024537 False progressive bulbar palsy of childhood Brown-Vi MONDO:0100433 MONDO:0018795 False ACTB-associated syndromic thrombocytopenia syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100434 MONDO:0006625 False chronic mountain sickness altitude sickness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100435 MONDO:0009717 False Schwartz-Jampel syndrome type 1 Schwartz-Jampel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100439 MONDO:0002412 False glycogen storage disease IXa2 disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100440 MONDO:0020573 False Asperger syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100450 MONDO:0020248 False CAPN5-related vitreoretinopathy vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100450 MONDO:0700115 False CAPN5-related vitreoretinopathy proliferative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32826,6 +32994,7 @@ MONDO:0100452 MONDO:0019118 False RPE65-related dominant retinopathy inherited r MONDO:0100457 MONDO:0003847 False achalasia, familial esophageal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100457 MONDO:0008698 False achalasia, familial esophageal achalasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100460 MONDO:0020573 False tobacco addiction, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100464 MONDO:0001982 False acid sphingomyelinase deficiency Niemann-Pick disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100468 MONDO:0019952 False Batten-Turner congenital myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0100469 MONDO:0010528 False anosmia, isolated congenital, X-linked anosmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100470 MONDO:0005087 False reactive airway disease respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32833,6 +33002,7 @@ MONDO:0100471 MONDO:0024298 False vitamin D deficiency vitamin deficiency disord MONDO:0100476 MONDO:0020573 False lipodystrophy, partial, acquired, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100478 MONDO:0005560 False brain malformations with or without urinary tract defects brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100478 MONDO:0100545 False brain malformations with or without urinary tract defects hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100479 MONDO:0041806 False rifampicin-resistant tuberculosis drug-resistant tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100481 MONDO:0018076 False active tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100482 MONDO:0041806 False extensively drug-resistant tuberculosis drug-resistant tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100486 MONDO:0011438 False adult acne acne UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32852,7 +33022,13 @@ MONDO:0100526 MONDO:0020573 False breast-ovarian cancer, familial, susceptibilit MONDO:0100531 MONDO:0010680 False Emery-Dreifuss muscular dystrophy 1, X-linked X-linked Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100532 MONDO:0020573 False blepharospasm, benign essential, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100533 MONDO:0020573 False hemorrhage, intracerebral, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100535 MONDO:0005486 False hypodontia/oligodontia with orofacial cleft tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100536 MONDO:0005486 False tooth agenesis, selective, with orofacial cleft tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100538 MONDO:0002242 False dysplasminogenemia coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100538 MONDO:0021181 False dysplasminogenemia inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100542 MONDO:0060782 False clonal hematopoiesis premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100543 MONDO:0100542 False clonal hematopoiesis of indeterminate potential clonal hematopoiesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100544 MONDO:0100542 False age-related clonal hematopoiesis clonal hematopoiesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100550 MONDO:0004746 False orbital myositis myopathy of extraocular muscle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100550 MONDO:0021167 False orbital myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100553 MONDO:0005338 False OPTN-related open angle glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32860,38 +33036,58 @@ MONDO:0100553 MONDO:0018174 False OPTN-related open angle glaucoma hereditary gl MONDO:0100554 MONDO:0021107 False hereditary narcolepsy narcolepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100554 MONDO:0100545 False hereditary narcolepsy hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100555 MONDO:0020573 False IgA nephropathy, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100560 MONDO:0006170 False ligneous conjunctivitis conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100566 MONDO:0100022 False myoclonic epilepsy in infancy neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0200000 MONDO:0002876 False uterine ligament adenosarcoma cervical adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0400000 MONDO:0024635 False small intestinal bacterial overgrowth small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0400000 MONDO:0043424 False small intestinal bacterial overgrowth digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0400002 MONDO:0005557 False calcium-alkali syndrome calcium metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0400004 MONDO:0019268 False phrynoderma epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0400005 MONDO:0005137 False refeeding syndrome nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0400006 MONDO:0005113 False botryomycosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0500000 MONDO:0015691 False episodic angioedema with eosinophilia hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600002 MONDO:0005550 False hemorrhagic fever infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0600005 MONDO:0005271 False venom allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600008 MONDO:0005046 False cytokine release syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0600016 MONDO:0005087 False acinar dysplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600023 MONDO:0021167 False idiopathic inflammatory myopathy myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600024 MONDO:0600023 False familial idiopathic inflammatory myopathy idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600025 MONDO:0002156 False hydrosalpinx fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600029 MONDO:0005275 False restrictive pulmonary disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700001 MONDO:0005275 False shrinking lung syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700007 MONDO:0700096 False idiopathic disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700015 MONDO:0020049 False chromosome 8 disorder autosomal anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700032 MONDO:0018071 False complete trisomy 18 trisomy 18 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700035 MONDO:0020639 False monosomy chromosome 8 monosomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700035 MONDO:0700015 False monosomy chromosome 8 chromosome 8 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700036 MONDO:0006055 False fibrothecoma sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700038 MONDO:0021179 False TDP-43 proteinopathy proteostasis deficiencies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700039 MONDO:0017919 False bladder exstrophy-epispadias-cloacal extrophy complex exstrophy-epispadias complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0700040 MONDO:0024288 False neonatal jaundice due to ABO incompatibility hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700041 MONDO:0015356 False neuroblastoma, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700045 MONDO:0005550 False protothecosis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700048 MONDO:0002254 False hand-foot syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700048 MONDO:0005093 False hand-foot syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700051 MONDO:0005154 False liver abscess (disease) liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700051 MONDO:0005227 False liver abscess (disease) abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700051 MONDO:0043424 False liver abscess (disease) digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700052 MONDO:0005227 False intersphincteric abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700057 MONDO:0005071 False neurological pain disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700058 MONDO:0002173 False Morton neuroma neuroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700060 MONDO:0000425 False leukemia, acute, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700060 MONDO:0010643 False leukemia, acute, X-linked acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700064 MONDO:0019040 False aneuploidy chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700065 MONDO:0700064 False trisomy aneuploidy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700073 MONDO:0009282 False glutaric acidemia IIa multiple acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700074 MONDO:0009282 False glutaric acidemia IIb multiple acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700076 MONDO:0009282 False glutaric acidemia IIc multiple acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700077 MONDO:0020573 False vitiligo-associated multiple autoimmune disease susceptibility 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700078 MONDO:0000615 False triple-positive breast carcinoma progesterone-receptor positive breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700078 MONDO:0006244 False triple-positive breast carcinoma HER2 positive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700078 MONDO:0006512 False triple-positive breast carcinoma estrogen-receptor positive breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700079 MONDO:0000615 False hormone receptor-positive breast cancer progesterone-receptor positive breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700079 MONDO:0000618 False hormone receptor-positive breast cancer Her2-receptor negative breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700079 MONDO:0006512 False hormone receptor-positive breast cancer estrogen-receptor positive breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700081 MONDO:0017015 False newborn respiratory distress syndrome primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700081 MONDO:0100131 False newborn respiratory distress syndrome pediatric acute respiratory distress syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700082 MONDO:0700128 False Robertsonian translocation Down syndrome translocation Down syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32904,6 +33100,12 @@ MONDO:0700092 MONDO:0005071 False neurodevelopmental disorder nervous system dis MONDO:0700107 MONDO:0013090 False chromosome 19q13.11 deletion syndrome, distal chromosome 19q13.11 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700115 MONDO:0005283 False proliferative vitreoretinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700117 MONDO:0100545 False SLC6A3-related dopamine transporter deficiency syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700118 MONDO:0011147 False proximal chromosome 18q deletion syndrome chromosome 18q deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700119 MONDO:0011147 False distal chromosome 18q deletion syndrome chromosome 18q deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700126 MONDO:0008608 False trisomy 21 Down syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700126 MONDO:0700065 False trisomy 21 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700127 MONDO:0700126 False mosaic trisomy 21 trisomy 21 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700128 MONDO:0008608 False translocation Down syndrome Down syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700134 MONDO:0024913 False bovine neoplasm cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700134 MONDO:0700098 False bovine neoplasm neoplasm, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700135 MONDO:0700100 False bovine leukemia leukemia, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33006,12 +33208,14 @@ MONDO:0700199 MONDO:0024985 False sheep lung adenocarcinoma sheep disease UNSUPP MONDO:0700199 MONDO:0700099 False sheep lung adenocarcinoma adenocarcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700199 MONDO:0700104 False sheep lung adenocarcinoma respiratory system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700207 MONDO:0021147 False constitutional delay of growth and puberty disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700217 MONDO:0005229 False neonatal sepsis bacterial infectious disease with sepsis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700218 MONDO:0021680 False group B streptococcal infection streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700220 MONDO:0700096 False disease related to transplantation human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700225 MONDO:0003847 False hereditary gallbladder disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700225 MONDO:0005281 False hereditary gallbladder disorder gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700245 MONDO:0044742 False epidermolytic hyperkeratosis 2B, autosomal recessive autosomal recessive epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700245 MONDO:0958184 False epidermolytic hyperkeratosis 2B, autosomal recessive epidermolytic hyperkeratosis 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700247 MONDO:0016073 False RAB18 deficiency syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700248 MONDO:0020702 False epidermolytic hyperkeratosis 2A, autosomal dominant autosomal dominant epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700248 MONDO:0958184 False epidermolytic hyperkeratosis 2A, autosomal dominant epidermolytic hyperkeratosis 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800001 MONDO:0020573 False delayed sleep phase syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33038,6 +33242,9 @@ MONDO:0800106 MONDO:0005084 False disruptive behavior disorder mental disorder U MONDO:0800107 MONDO:0002070 False anterior deviation infundibular septum ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800108 MONDO:0000471 False cleft leaflet of tricuspid valve tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800113 MONDO:0018882 False necrotizing vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800117 MONDO:0400006 False cutaneous botryomycosis botryomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800119 MONDO:0002465 False postinfectious bronchiolitis obliterans bronchiolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800127 MONDO:0018634 False pulmonary amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800129 MONDO:0019751 False autoinflammatory disease, X-linked autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800130 MONDO:0019751 False autoinflammatory syndrome with immunodeficiency autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800132 MONDO:0003847 False autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33048,11 +33255,114 @@ MONDO:0800176 MONDO:0029000 False black widow spider envenomation poisoning UNSU MONDO:0800177 MONDO:0021178 False frostbite injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800187 MONDO:0800174 False immunodeficiency 83, susceptibility to viral infections encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800188 MONDO:0020573 False malignant hyperthermia, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800196 MONDO:0000455 False achromatopsia 5 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800197 MONDO:0001703 False achromatopsia 6 color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800198 MONDO:0003847 False alopecia universalis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800198 MONDO:0004907 False alopecia universalis alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800200 MONDO:0019942 False arthrogryposis, distal, type 2B4 distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800201 MONDO:0005339 False baldness, male pattern androgenetic alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800204 MONDO:0018230 False calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800206 MONDO:0006543 False epidermolysis bullosa dystrophica with subcorneal cleavage epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800207 MONDO:0005244 False neuropathy, small fiber peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800209 MONDO:0007614 False fibrosis of extraocular muscles, congenital, 3b congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800215 MONDO:0020573 False multicentric Castleman disease, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800224 MONDO:0020573 False amyotrophic lateral sclerosis, susceptibility to, 13 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800226 MONDO:0008498 False strabismus, susceptibility to, 1 strabismus, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800250 MONDO:0020573 False Graves disease, susceptibility to, X-linked 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800261 MONDO:0020573 False autoimmune thyroid disease, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800268 MONDO:0020573 False atrioventricular septal defect, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800271 MONDO:0020573 False epilepsy, juvenile myoclonic, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800274 MONDO:0020573 False autoimmune disease, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800275 MONDO:0020836 False autism, susceptibility to, 14a autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800279 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800287 MONDO:0020836 False autism, susceptibility to, 14b autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800290 MONDO:0015356 False Li-fraumeni-like syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800291 MONDO:0800066 False crossed polydactyly, type I polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800296 MONDO:0003847 False microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800298 MONDO:0019609 False peroxisome biogenesis disorder, complementation group 2 Zellweger spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800299 MONDO:0003847 False myopathy, congenital, with excess of muscle spindles hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800300 MONDO:0002254 False black locks with albinism and deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800301 MONDO:0100339 False Friedreich ataxia with retained reflexes Friedreich ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800302 MONDO:0002413 False glycogen storage disease Id glycogen storage disease I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800304 MONDO:0020127 False neuropathy, hereditary sensory and autonomic, type IId hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800307 MONDO:0018230 False de la Chapelle dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800308 MONDO:0009797 False orotic aciduria without megaloblastic anemia orotic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800310 MONDO:0000144 False pregnancy loss, recurrent, 4 pregnancy loss, recurrent, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800310 MONDO:0003847 False pregnancy loss, recurrent, 4 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800310 MONDO:0005047 False pregnancy loss, recurrent, 4 infertility disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800311 MONDO:0018801 False vas deferens, congenital unilateral aplasia of congenital bilateral absence of vas deferens UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800312 MONDO:0008686 False wooly hair, autosomal recessive 1, with or without hypotrichosis isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800313 MONDO:0016354 False xeroderma pigmentosum, type F/Cockayne syndrome xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800314 MONDO:0016354 False xeroderma pigmentosum, type G/Cockayne syndrome xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800317 MONDO:0019852 False premature ovarian failure 4 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800318 MONDO:0010680 False Emery-Dreifuss muscular dystrophy 6, X-linked X-linked Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800319 MONDO:0004580 False cone dystrophy 5, X-linked retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800320 MONDO:0004580 False cone dystrophy 1, X-linked retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800321 MONDO:0019512 False congenital heart defects, multiple types, 1, X-linked congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800322 MONDO:0005154 False membranous obstruction of inferior vena cava liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800323 MONDO:0019171 False long QT syndrome 4 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800324 MONDO:0000170 False microphthalmia, isolated, with coloboma 8 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800328 MONDO:0019200 False retinitis pigmentosa 94, variable age at onset retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800329 MONDO:0000032 False febrile seizures, familial, 3a febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800330 MONDO:0009696 False myoclonic epilepsy, juvenile, 2 juvenile myoclonic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800331 MONDO:0004736 False hyperglycinemia, transient neonatal inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800335 MONDO:0000700 False migraine, familial hemiplegic, 4 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800337 MONDO:0005240 False acute tubulointerstitial nephritis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800339 MONDO:0016120 False laryngospasm, severe neonatal episodic myotonic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800344 MONDO:0005172 False brachydactyly-syndactyly-oligodactyly syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800345 MONDO:0018054 False atrial fibrillation, familial, 17 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800346 MONDO:0018901 False left ventricular noncompaction 9 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800348 MONDO:0019200 False retinitis pigmentosa 53 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800349 MONDO:0018054 False atrial fibrillation, familial, 16 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800350 MONDO:0018901 False left ventricular noncompaction 4 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800351 MONDO:0018901 False left ventricular noncompaction 5 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800352 MONDO:0019200 False retinitis pigmentosa 65 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800353 MONDO:0015286 False congenital disorder of glycosylation, type Ibb congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800354 MONDO:0000032 False febrile seizures, familial, 3b febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800355 MONDO:0100081 False parasomnia, sleep terrors type sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800356 MONDO:0019691 False short-rib thoracic dysplasia 7/20 with polydactyly, digenic short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800357 MONDO:0019289 False hyperpigmentation, progressive cribriform and zosteriform hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800358 MONDO:0005090 False schizophrenia 17 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800359 MONDO:0019200 False retinitis pigmentosa 64 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800363 MONDO:0018772 False Joubert syndrome 19 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800364 MONDO:0100266 False peroxisome biogenesis disorder, complementation group 3 peroxisome biogenesis disorder due to PEX12 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800365 MONDO:0100268 False peroxisome biogenesis disorder, complementation group K peroxisome biogenesis disorder due to PEX14 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800367 MONDO:0016333 False cardiomyopathy, dilated, 1LL familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800368 MONDO:0016333 False cardiomyopathy, dilated, 1MM familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800369 MONDO:0000828 False parkinson disease 19B, early-onset juvenile-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800370 MONDO:0015780 False dyskeratosis congenita, autosomal recessive 7 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800370 MONDO:0100569 False dyskeratosis congenita, autosomal recessive 7 ACD-related short telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800371 MONDO:0024573 False cardiomyopathy, familial restrictive, 5 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800374 MONDO:0017990 False ventricular tachycardia, catecholaminergic polymorphic 6 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800375 MONDO:0019207 False developmental delay, epilepsy, and neonatal diabetes 1 DEND syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800376 MONDO:0019207 False developmental delay, epilepsy, and neonatal diabetes 2 DEND syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800378 MONDO:0005151 False 17,20-lyase deficiency, isolated endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800380 MONDO:0005151 False 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800382 MONDO:0018772 False Joubert syndrome 11 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800383 MONDO:0018772 False Joubert syndrome 34 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800408 MONDO:0003847 False urogenital adysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800409 MONDO:0020573 False ventricular fibrillation during myocardial infarction, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800410 MONDO:0020573 False UV-induced skin damage, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800413 MONDO:0020573 False antisocial behavior, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800414 MONDO:0020573 False aplastic anemia, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800415 MONDO:0010940 False asthma, aspirin-induced, susceptibility to inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800416 MONDO:0020836 False autism, susceptibility to, 1 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800417 MONDO:0020836 False autism, susceptibility to, 4 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800420 MONDO:0015356 False breast cancer, familial, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800421 MONDO:0020573 False cardiomyopathy, familial hypertrophic, 4, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800422 MONDO:0020573 False cirrhosis, noncryptogenic, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800423 MONDO:0015356 False colorectal cancer, susceptibility to, 4 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800424 MONDO:0015356 False colorectal cancer, susceptibility to, on chromosome 15 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800425 MONDO:0020573 False coronary artery disease, severe, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800427 MONDO:0020573 False dengue hemorrhagic fever, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800428 MONDO:0020573 False dengue shock syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800429 MONDO:0020573 False dyslexia, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800430 MONDO:0020573 False dyslexia, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800431 MONDO:0020573 False efavirenz central nervous system toxicity, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800432 MONDO:0020573 False obesity, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800433 MONDO:0015356 False ovarian cancer, familial, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800434 MONDO:0015356 False ovarian cancer, familial, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800435 MONDO:0015356 False ovarian cancer, familial, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800444 MONDO:0000426 False Birt-Hogg-Dube syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800444 MONDO:0002254 False Birt-Hogg-Dube syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800446 MONDO:0000009 False bleeding diathesis due to thromboxane synthesis deficiency inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33062,6 +33372,9 @@ MONDO:0800451 MONDO:0100241 False congenital amegakaryocytic thrombocytopenia in MONDO:0800452 MONDO:0009332 False congenital amegakaryocytic thrombocytopenia 1 congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800453 MONDO:0100030 False juvenile absence epilepsy adolescent/adult-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800453 MONDO:0100545 False juvenile absence epilepsy hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800478 MONDO:0002254 False trigeminal trophic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800480 MONDO:0016225 False non-verbal learning disability specific learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800481 MONDO:0005167 False oral fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800486 MONDO:0005381 False metabolic bone disorder bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0810000 MONDO:0005328 False choroidal neovascularization eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850007 MONDO:0001854 False syndromic lacrimal system disorder lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33468,7 +33781,10 @@ MONDO:0968977 MONDO:0008947 False basal ganglia calcification, idiopathic, 9, au MONDO:0968978 MONDO:0002254 False aplasia cutis-enamel dysplasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0968979 MONDO:0700092 False neurodevelopmental disorder with hypotonia and seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0968982 MONDO:0003847 False autoinflammation with episodic fever and immune dysregulation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1010000 MONDO:0005550 False pythiosis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:1030001 MONDO:0020573 False epilepsy, juvenile absence, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000005 MONDO:0002041 False fungal discitis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000005 MONDO:8000000 False fungal discitis infectious discitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000010 MONDO:0002254 False antiphospholipid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:8000014 MONDO:0000426 False familial antiphospholipid syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000014 MONDO:8000010 False familial antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index 868232f6..ac5285b5 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -13,3 +13,6 @@ MONDO:0970993 immunodeficiency 119 OMIM:620825 MONDO:equivalentTo immunodeficien MONDO:0970994 immunodeficiency 120 OMIM:620836 MONDO:equivalentTo immunodeficiency 120 MONDO:0021094 MONDO:0970995 premature ovarian failure 24 OMIM:620840 MONDO:equivalentTo premature ovarian failure 24 MONDO:0019852 MONDO:0970996 mhc class ii deficiency OMIMPS:209920 MONDO:equivalentTo MHC class II deficiency +MONDO:0970998 auroneurodental syndrome OMIM:620830 MONDO:equivalentTo auroneurodental syndrome +MONDO:0970999 spermatogenic failure 92 OMIM:620848 MONDO:equivalentTo spermatogenic failure 92 MONDO:0004983 +MONDO:0971000 spermatogenic failure 93 OMIM:620849 MONDO:equivalentTo spermatogenic failure 93 diff --git a/src/ontology/unmapped/omim-unmapped.owl b/src/ontology/unmapped/omim-unmapped.owl index 98b910a9..e90090b6 100644 --- a/src/ontology/unmapped/omim-unmapped.owl +++ b/src/ontology/unmapped/omim-unmapped.owl @@ -11159,23 +11159,6 @@ - - - - - - - - - - ADRA2C - alpha-2-adrenergic receptor, renal type - alpha-2c-adrenergic receptor - ADRA2C - - - - @@ -154226,36 +154209,9 @@ - - - - - - - - - - - - - - - - KIR3DL1 - amb11 - cd158e1 - killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 - nk-associated transcript 3 - nkb1 - KIR3DL1 - - - - - true @@ -172509,6 +172465,29 @@ + + + + + + + + + + + + + + + + NAA80 + fus2 + n-alpha-acetyltransferase 80, nath catalytic subunit + NAA80 + + + + @@ -194372,12 +194351,6 @@ - - - - - - acquired immunodeficiency syndrome, progression to aids, progression to hiv-1, resistance to @@ -217761,8 +217734,9 @@ BCARD bcard syndrome - bone fragility with contractures, arterial rupture, and deafness + bone abnormalities, cataract, arterial rupture, and deafness lh3 deficiency + lysyl hydroxylase 3 deficiency bcard syndrome @@ -295083,6 +295057,28 @@ + + + + + + + + + + + + + + + + LRRC23 + leucine-rich repeat-containing protein 23 + LRRC23 + + + + @@ -295886,6 +295882,22 @@ + + + + + + + + + + ANDS + auroneurodental syndrome + auroneurodental syndrome + + + + @@ -295931,6 +295943,33 @@ + + + + + + + + + + + SPGF92 + spermatogenic failure 92 + spermatogenic failure 92 + + + + + + + + SPGF93 + spermatogenic failure 93 + spermatogenic failure 93 + + + +