From d840cff8e83d3dee60e3ed525c68082b4bcecb4d Mon Sep 17 00:00:00 2001 From: Zoe May Pendlington Date: Thu, 8 Aug 2024 11:25:15 +0100 Subject: [PATCH] Added replacement imports for obsoleted Mondo terms that did not have a replacement for #2227 --- src/ontology/components/mondo_efo_import.owl | 12 + src/ontology/imports/mondo_terms.txt | 5 +- src/ontology/iri_dependencies/mondo_terms.txt | 5 +- src/ontology/reports/basic-report.tsv | 229 +- .../reports/class-count-by-prefix.tsv | 2 +- src/ontology/reports/edges.tsv | 26407 ++++++++-------- src/ontology/reports/synonyms.tsv | 3981 +-- src/ontology/reports/xrefs.tsv | 2815 +- 8 files changed, 16739 insertions(+), 16717 deletions(-) diff --git a/src/ontology/components/mondo_efo_import.owl b/src/ontology/components/mondo_efo_import.owl index 0986fa4e..09991307 100644 --- a/src/ontology/components/mondo_efo_import.owl +++ b/src/ontology/components/mondo_efo_import.owl @@ -12868,6 +12868,7 @@ Declaration(Class(obo:MONDO_0956989)) Declaration(Class(obo:MONDO_0957018)) Declaration(Class(obo:MONDO_0957048)) Declaration(Class(obo:MONDO_0957097)) +Declaration(Class(obo:MONDO_0957196)) Declaration(Class(obo:MONDO_0957204)) Declaration(Class(obo:MONDO_0957208)) Declaration(Class(obo:MONDO_0957211)) @@ -350481,6 +350482,17 @@ AnnotationAssertion(skos:exactMatch obo:MONDO_0957097 ) + # Class: obo:MONDO_0957204 (autoinflammation with pulmonary and cutaneous vasculitis) AnnotationAssertion(Annotation(oboInOwl:source "MONDO:MEDGEN") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref obo:MONDO_0957204 "MEDGEN:1841007") diff --git a/src/ontology/imports/mondo_terms.txt b/src/ontology/imports/mondo_terms.txt index f9cd9971..a780ca29 100644 --- a/src/ontology/imports/mondo_terms.txt +++ b/src/ontology/imports/mondo_terms.txt @@ -28,6 +28,7 @@ http://purl.obolibrary.org/obo/MONDO_0000309 http://purl.obolibrary.org/obo/MONDO_0000327 http://purl.obolibrary.org/obo/MONDO_0000337 http://purl.obolibrary.org/obo/MONDO_0000355 +http://purl.obolibrary.org/obo/MONDO_0000358 http://purl.obolibrary.org/obo/MONDO_0000367 http://purl.obolibrary.org/obo/MONDO_0000402 http://purl.obolibrary.org/obo/MONDO_0000440 @@ -10327,6 +10328,7 @@ http://purl.obolibrary.org/obo/MONDO_0041182 http://purl.obolibrary.org/obo/MONDO_0042370 http://purl.obolibrary.org/obo/MONDO_0042487 http://purl.obolibrary.org/obo/MONDO_0042490 +http://purl.obolibrary.org/obo/MONDO_0042976BFO:0000050 http://purl.obolibrary.org/obo/MONDO_0042979 http://purl.obolibrary.org/obo/MONDO_0043005 http://purl.obolibrary.org/obo/MONDO_0043008 @@ -10763,6 +10765,7 @@ http://purl.obolibrary.org/obo/MONDO_0800447 http://purl.obolibrary.org/obo/MONDO_0800448 http://purl.obolibrary.org/obo/MONDO_0800449 http://purl.obolibrary.org/obo/MONDO_0800451 +http://purl.obolibrary.org/obo/MONDO_0800453 http://purl.obolibrary.org/obo/MONDO_0800456 http://purl.obolibrary.org/obo/MONDO_0810000 http://purl.obolibrary.org/obo/MONDO_0850349 @@ -10936,7 +10939,7 @@ http://purl.obolibrary.org/obo/MONDO_0859576 http://purl.obolibrary.org/obo/MONDO_0859578 http://purl.obolibrary.org/obo/MONDO_0956989 http://purl.obolibrary.org/obo/MONDO_0957048 -http://purl.obolibrary.org/obo/MONDO_0957196BFO:0000050 +http://purl.obolibrary.org/obo/MONDO_0957196 http://purl.obolibrary.org/obo/MONDO_0957204 http://purl.obolibrary.org/obo/MONDO_0957208 http://purl.obolibrary.org/obo/MONDO_0957211 diff --git a/src/ontology/iri_dependencies/mondo_terms.txt b/src/ontology/iri_dependencies/mondo_terms.txt index e77fafb9..67a9d48f 100644 --- a/src/ontology/iri_dependencies/mondo_terms.txt +++ b/src/ontology/iri_dependencies/mondo_terms.txt @@ -11078,4 +11078,7 @@ http://purl.obolibrary.org/obo/MONDO_0700248 http://purl.obolibrary.org/obo/MONDO_0100465 http://purl.obolibrary.org/obo/MONDO_0957273 http://purl.obolibrary.org/obo/MONDO_0021016 -http://purl.obolibrary.org/obo/MONDO_0957196 \ No newline at end of file +http://purl.obolibrary.org/obo/MONDO_0957196 +http://purl.obolibrary.org/obo/MONDO_0800453 +http://purl.obolibrary.org/obo/MONDO_0000358 +http://purl.obolibrary.org/obo/MONDO_0042976 \ No newline at end of file diff --git a/src/ontology/reports/basic-report.tsv b/src/ontology/reports/basic-report.tsv index d5a4354b..2f744fda 100644 --- a/src/ontology/reports/basic-report.tsv +++ b/src/ontology/reports/basic-report.tsv @@ -110,7 +110,7 @@ "An increase in width in one or more phalanges of the big toe." "UMLS:C4021343" "UMLS:C5193142 DOID:0070446 OMIM:618528 MEDGEN:1684495" "An anomaly of the electrical conduction physiology of the heart." - "The adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye." "MA:0000273 Wikipedia:Iris_(anatomy) BTO:0000653 NCIT:C12737 EFO:0004245 VHOG:0000101 TAO:0001238 XAO:0000185 MESH:D007498 GAID:917 AAO:0010347 EMAPA:19154 FMA:58235 ZFA:0001238 EV:0100345 SCTID:181164000 CALOHA:TS-0491 UMLS:C0022077" + "The adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye." "MA:0000273 Wikipedia:Iris_(anatomy) BTO:0000653 NCIT:C12737 EFO:0004245 VHOG:0000101 TAO:0001238 XAO:0000185 GAID:917 MESH:D007498 AAO:0010347 EMAPA:19154 FMA:58235 ZFA:0001238 EV:0100345 SCTID:181164000 CALOHA:TS-0491 UMLS:C0022077" "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24" "This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." "OMIM:300707 ICD10:Q87.8" "Brassica carinata x Brassica rapa is a synthesised trigenomic allohexaploid (AABBCC genome) that could be produced by crossing Brassica carinata (BBCC, 2n = 34) with Brassica rapa (AA, 2n = 20) and followed genome doubling." "PMID:22309095" @@ -177,7 +177,7 @@ "The amount of a cyclic nucleotide-gated olfactory channel when measured in blood serum." "The number of entities of this type that are part of the whole organism. " "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." "SCTID:720639008 GARD:310 MEDGEN:341214 OMIM:280000 Orphanet:3474 DOID:0112152 UMLS:C1848392 MESH:C536729" - "Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." "NCIT:C85025 MedDRA:10029542 GARD:10793 Orphanet:100070 SCTID:716281000 MESH:D057178 MEDGEN:148373 UMLS:C0751706 DOID:0081390" + "Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." "NCIT:C85025 MedDRA:10029542 GARD:10793 Orphanet:100070 MESH:D057178 SCTID:716281000 MEDGEN:148373 UMLS:C0751706 DOID:0081390" "An increased rate of urine production." "SNOMEDCT_US:28442001 ICD10:R35 UMLS:C0032617 SNOMEDCT:28442001 SNOMEDCT_US:718402002 NCIt:C118303 ICD9:788.42 SNOMEDCT_US:56574000" "Cot filtration is an experimental process that uses DNA renaturation kinetics (i.e. Cot analysis) to separate repetitive DNA sequences that dominate many eukaryotic genomes from low-copy sequences which are more gene rich." @@ -390,7 +390,7 @@ "A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis." "MEDGEN:1784590 UMLS:C5543375 OMIM:619321" - "A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas." "NCIT:C40130 MEDGEN:274487 UMLS:C1517114 DOID:5324" + "A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas." "NCIT:C40130 MEDGEN:274487 DOID:5324 UMLS:C1517114" "immortal human lung-derived cell line" "CLO:0037033 RRID:CVCL_5160" "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. [ NCI ]" "ICD10:E05 MEDGEN:6972 DOID:7998 NCIT:C3123 MESH:D006980 HP:0000836 UMLS:C0020550 SCTID:34486009 MedDRA:10020850 MONDO:0004425 NCIt:C3123 ICD9:242.90 NANDO:2100119 NANDO:2200329" "UMLS:CN201472 ICD10:Q87.3 Orphanet:231127" @@ -448,7 +448,7 @@ "A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)" "MONDO:0004981 SCTID:49436004 MESH:D001281 MedDRA:10003658 NANDO:2100051 MeSH:D001281 DOID:0060224 NANDO:2200226 ICD9:427.31 OMIM:611819 NCIT:C50466 HP:0005110 OMIM:615770 NCIt:C50466 UMLS:C0004238 MEDGEN:445 ICD10:I48 SNOMEDCT:49436004 OMIM:613120" "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." "UMLS:C0022797 NANDO:2201244 SCTID:62009002 NORD:1341 Orphanet:79262 GARD:10973 NANDO:1200155 MEDGEN:7230" "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13." "GARD:15532 DOID:0110460 UMLS:C2678474 MEDGEN:437214 OMIM:611880" - "An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact." "ICD9CM:007.1 MeSH:D005873 MONDO:0001103 DOID:10718 SNOMEDCT:58265007 SCTID:10679007 MESH:D005873 SNOMEDCT:10679007 MEDGEN:42213 ICD9:007.1 UMLS:C0017536" + "An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact." "ICD9CM:007.1 MONDO:0001103 MeSH:D005873 DOID:10718 SNOMEDCT:58265007 SCTID:10679007 MESH:D005873 SNOMEDCT:10679007 MEDGEN:42213 ICD9:007.1 UMLS:C0017536" "DOID:0081072 OMIMPS:213980" "SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs." "NCIT:C123726 OMIM:611812 SCTID:723720008 UMLS:C2678492 GARD:10302 MESH:C567517 Orphanet:139466 MEDGEN:394528" "Multi-tissue structure which is the largest portion of diencephalon and is ventrally located. The hypothalamus arises near the end of the segmentation period and the embryonic hypothalamic region gives rise to the neurohypophysis and other diencephalic nuclei." "EV:0100225 NIFSTD:birnlex_734 SAEL:52 EMAPA:17536 BTO:0000614 ZFA:0000032 TAO:0000032 FMA:62008 EHDAA:5446 NCIt:C22616 MA:0000173 MAT:0000112" @@ -668,7 +668,7 @@ "Conceptual functions or thinking in all its forms." "NCIt:C16840 MeSH:D008606" "ICD10:G90.8" "quantification of an individual's susceptibility to childhood ear infections, generally as a count of number of infections suffered or a binary scale of presence or absence of childhood ear infections" - "A female germ cell that has entered meiosis." "WBbt:0006797 MESH:D009865 ZFA:0009008 ZFA:0001109 FMA:18644 FBbt:00004886 BTO:0000964 SNOMEDCT:86082002 CALOHA:TS-0711 NCIt:C12598" + "A female germ cell that has entered meiosis." "WBbt:0006797 MESH:D009865 ZFA:0001109 ZFA:0009008 FMA:18644 FBbt:00004886 BTO:0000964 SNOMEDCT:86082002 CALOHA:TS-0711 NCIt:C12598" "Quantification of thrombospondin type-1 domain-containing protein 7A in a sample." "PMID:29875488" "The result of a measurement of circulating Mumps virus-specific antibodies" "PMID:30053915" "NCIT:C179867 MEDGEN:411324 OMIM:400045 UMLS:C2748895 DOID:0111761" @@ -799,7 +799,7 @@ "quantification of the amount of Agouti-related protein in a sample" "A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes." "The amount of a protein-glutamine gamma-glutamyltransferase K when measured in blood serum." - "Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]." "NCIT:C12666 GAID:446 CALOHA:TS-0016 AAO:0010551 XAO:0000164 MESH:D000311 UMLS:C0001625 MAT:0000071 Wikipedia:Adrenal_gland EV:0100135 BTO:0000047 FMA:9604 galen:AdrenalGland SCTID:181127006 EFO:0000238 MIAA:0000071 EMAPA:18426 MA:0000116" + "Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]." "NCIT:C12666 GAID:446 CALOHA:TS-0016 AAO:0010551 XAO:0000164 MESH:D000311 MAT:0000071 UMLS:C0001625 Wikipedia:Adrenal_gland EV:0100135 BTO:0000047 FMA:9604 galen:AdrenalGland SCTID:181127006 EFO:0000238 MIAA:0000071 EMAPA:18426 MA:0000116" "A HETE having a (12S)-hydroxy group and (5Z)-, (8Z)-, (10E)- and (14Z)-double bonds." "PMID:7688315 PMID:12697425 CAS:54397-83-0 PMID:7511046 KEGG:C14777 PMID:11726629 PMID:11158968 Beilstein:2656104 LIPID_MAPS_instance:LMFA03060007 PMID:7593207 PMID:2517876 PMID:7540838 PMID:17963719 PMID:7683691 KNApSAcK:C00000424 PMID:11756509 PMID:25449650 PMID:7492988 Reaxys:2656104 PMID:15105833 PMID:3026490 PMID:10952974" "A neoplasm (disease) that involves the major salivary gland." "UMLS:C0345599 NCIT:C4407 SCTID:126787005 MEDGEN:83383" "Quantification of sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0) in a sample." @@ -1003,7 +1003,7 @@ "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine)." "Reactome:R-HSA-1604752 Reactome:R-HSA-1604690 Reactome:R-HSA-140599 Reactome:R-HSA-9023196 Reactome:R-HSA-1602488 Reactome:R-HSA-9666383 Reactome:R-HSA-2129357 Reactome:R-HSA-2514823 Reactome:R-HSA-140700 Reactome:R-HSA-2471842 Reactome:R-HSA-9673223 Reactome:R-HSA-1604722 Reactome:R-HSA-9710106 Reactome:R-HSA-183130 Reactome:R-HSA-9023633 Reactome:R-HSA-183122 Reactome:R-HSA-1602458 Reactome:R-HSA-1912369 Reactome:R-HSA-8865275 Reactome:R-HSA-9770187 Reactome:R-HSA-9023626 Reactome:R-HSA-1604359 Reactome:R-HSA-1474197 Reactome:R-HSA-9023178 Reactome:R-HSA-174551 Reactome:R-HSA-8874145 Reactome:R-HSA-140777 Reactome:R-HSA-1592314 Reactome:R-HSA-3785684 Reactome:R-HSA-140769 Reactome:R-HSA-381135 Reactome:R-HSA-2214330 Reactome:R-HSA-1602473 Reactome:R-HSA-8874212 Reactome:R-HSA-2534206 Reactome:R-HSA-8855825 Reactome:R-HSA-158311 Reactome:R-HSA-140664 Reactome:R-HSA-1454843 Reactome:R-HSA-3814820 Reactome:R-HSA-171288 Reactome:R-HSA-8874186 Reactome:R-HSA-9694287 Reactome:R-HSA-158747 Reactome:R-HSA-9033530 EC:3.4.21.- Reactome:R-HSA-5210912 Reactome:R-HSA-2168923 Reactome:R-HSA-6800200 Reactome:R-HSA-6800299 Reactome:R-HSA-2514772 Reactome:R-HSA-5691512 Reactome:R-HSA-2534160 Reactome:R-HSA-1602466 Reactome:R-HSA-158137 Reactome:R-HSA-265301 Reactome:R-HSA-1592371 Reactome:R-HSA-9686731 Reactome:R-HSA-9668365 Reactome:R-HSA-173680 Reactome:R-HSA-976743 Reactome:R-HSA-1566981 Reactome:R-HSA-166753 Reactome:R-HSA-3788061 Reactome:R-HSA-158925 Reactome:R-HSA-186785 Reactome:R-HSA-400496 Reactome:R-HSA-1604731 Reactome:R-HSA-1799329 Reactome:R-HSA-977371 Reactome:R-HSA-9670874 Reactome:R-HSA-5210935 Reactome:R-HSA-8874205 Reactome:R-HSA-1655842 Reactome:R-HSA-1592398 Reactome:R-HSA-9710263 Reactome:R-HSA-173745 Reactome:R-HSA-173631 Reactome:R-HSA-382061 Reactome:R-HSA-381446 Reactome:R-HSA-159771 Reactome:R-HSA-9655046 Reactome:R-HSA-158419 Reactome:R-HSA-9033529 Reactome:R-HSA-977615 Reactome:R-HSA-381798 Reactome:R-HSA-1604368 Reactome:R-HSA-3928657 Reactome:R-HSA-2471621 Reactome:R-HSA-163843 Reactome:R-HSA-159796 Reactome:R-HSA-1566962 Reactome:R-HSA-166817 Reactome:R-HSA-140823 Reactome:R-HSA-1592297 Reactome:R-HSA-8874206 Reactome:R-HSA-8865276 Reactome:R-HSA-3266557 Reactome:R-HSA-159728 Reactome:R-HSA-9023627 Reactome:R-HSA-5591040 Reactome:R-HSA-9830882 Reactome:R-HSA-422051 Reactome:R-HSA-170844 Reactome:R-HSA-8850831 Reactome:R-HSA-163798 Reactome:R-HSA-9694661 Reactome:R-HSA-1604712 Reactome:R-HSA-9033515 Reactome:R-HSA-6801687 Reactome:R-HSA-9829200 Reactome:R-HSA-140736 Reactome:R-HSA-1592270 Reactome:R-HSA-5578783 Reactome:R-HSA-9699007 Reactome:R-HSA-141040 Reactome:R-HSA-8849857 Reactome:R-HSA-1604763 Reactome:R-HSA-158942 Reactome:R-HSA-2022411 Reactome:R-HSA-159773 Reactome:R-HSA-2482180 Reactome:R-HSA-9662786 Reactome:R-HSA-9033524 Reactome:R-HSA-1592316 Reactome:R-HSA-159868 Reactome:R-HSA-9023632 Reactome:R-HSA-8849826 Reactome:R-HSA-1592362 Reactome:R-HSA-1592436 Reactome:R-HSA-422021 Reactome:R-HSA-1592278 Reactome:R-HSA-9829030 Reactome:R-HSA-187020 Reactome:R-HSA-9033520 Reactome:R-HSA-158313 Reactome:R-HSA-1912372 Reactome:R-HSA-381461 Reactome:R-HSA-158164 Reactome:R-HSA-9686710 Reactome:R-HSA-1604360 Reactome:R-HSA-2534260 Reactome:R-HSA-6800198 Reactome:R-HSA-2168960 Reactome:R-HSA-8852716 Reactome:R-HSA-166792 Reactome:R-HSA-2172405 Reactome:R-HSA-1604732 Reactome:R-HSA-140840 Reactome:R-HSA-173626 Reactome:R-HSA-5607002 Reactome:R-HSA-9033490 Reactome:R-HSA-9698988 Reactome:R-HSA-400459 Reactome:R-HSA-158750 Reactome:R-HSA-114697 Reactome:R-HSA-9769949 Reactome:R-HSA-158300 Reactome:R-HSA-141026 Reactome:R-HSA-140696 Reactome:R-HSA-381500 Reactome:R-HSA-400492 Reactome:R-HSA-1604741 Reactome:R-HSA-381466 Reactome:R-HSA-1566979 Reactome:R-HSA-9708859 Reactome:R-HSA-9830805 Reactome:R-HSA-158766 Reactome:R-HSA-158333 Reactome:R-HSA-140870 Reactome:R-HSA-9033506 Reactome:R-HSA-139893 Reactome:R-HSA-1181152 Reactome:R-HSA-159733 Reactome:R-HSA-158744 Reactome:R-HSA-9668253 Reactome:R-HSA-1602484 Reactome:R-HSA-8874204 Reactome:R-HSA-158982 Reactome:R-HSA-6807224 Reactome:R-HSA-9653249" "OMIM:300534 ICD10:Q87.8" "The amount of a phosphatidylcholine 16:0_18:0 when measured in blood serum." - "NCIt:C29159 MeSH:D017706 SNOMEDCT:108575001 PDBeChem:LPR Wikipedia:Lisinopril SNOMEDCT:386873009 Drug_Central:1587 Beilstein:4276619 LINCS:LSM-5756 DrugBank:DB00722 CAS:76547-98-3" + "NCIt:C29159 MeSH:D017706 SNOMEDCT:108575001 PDBeChem:LPR Wikipedia:Lisinopril SNOMEDCT:386873009 Drug_Central:1587 Beilstein:4276619 LINCS:LSM-5756 CAS:76547-98-3 DrugBank:DB00722" "Embryonic stem cells isolated from mix of ~20% C57/B6J, ~75% 129/Sv and ~5% SJL all male strains." "PMID:7638196" "Quantification of DNA polymerase iota in a sample." "PMID:29875488" "The amount of a disintegrin and metalloproteinase domain-containing protein 22 when measured in blood serum." @@ -1130,7 +1130,7 @@ "A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia." "NCIT:C4375 MEDGEN:293643 UMLS:C1578917 OMIM:147630 SCTID:274944000 MESH:C563258" "The amount of a zinc finger protein 593 when measured in blood serum." - "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." "UMLS:C0008049 MONDO:0005700 SCTID:38907003 MEDGEN:2995 MeSH:D002644 ICD9:052.9 MESH:D002644 MedDRA:10008505 NCIT:C97132 ICD10:B01 DOID:8659 ICD9:052" + "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." "UMLS:C0008049 MONDO:0005700 SCTID:38907003 MEDGEN:2995 MeSH:D002644 MedDRA:10008505 ICD9:052.9 MESH:D002644 NCIT:C97132 ICD10:B01 DOID:8659 ICD9:052" "OMIM:613752 ICD10:E72.1" "The determination of the amount of hormone present in a sample." "SNOMEDCT:122445005 NCIt:C74742" @@ -1175,7 +1175,7 @@ "The amount of a small nuclear ribonucleoprotein G when measured in blood serum." "Quantification of the amount of 4-acetaminophen sulfate in a sample." "PMID:24816252" - "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness." "OMIM:181430 UMLS:C0026848 OMIM:300695 NCIt:C101216 MedDRA:10028649 MEDGEN:10135 ICD9:728.3 DOID:423 MedDRA:10028641 ICD9:359.9 SCTID:129565002 NCIT:C101216 SCTID:75047002 ICD9:359.8 MONDO:0005336" + "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness." "OMIM:181430 UMLS:C0026848 NCIt:C101216 MedDRA:10028649 OMIM:300695 MEDGEN:10135 ICD9:728.3 DOID:423 MedDRA:10028641 ICD9:359.9 SCTID:129565002 NCIT:C101216 SCTID:75047002 ICD9:359.8 MONDO:0005336" "OMIM:618272 UMLS:CN226190 ICD10:Q87.3 Orphanet:404476" "The amount of a ankyrin repeat domain-containing protein 46 when measured in blood serum." @@ -3366,7 +3366,7 @@ "UMLS:C3508773 Orphanet:99875 MEDGEN:854083" "The amount of a guanine nucleotide-binding protein G(i) subunit alpha-1 when measured in blood serum." - "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." "OMIM:181430 UMLS:C0026848 OMIM:300695 NCIt:C101216 MedDRA:10028649 MEDGEN:10135 ICD9:728.3 DOID:423 MedDRA:10028641 ICD9:359.9 SCTID:129565002 NCIT:C101216 SCTID:75047002 ICD9:359.8 MONDO:0005336" + "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." "OMIM:181430 UMLS:C0026848 NCIt:C101216 MedDRA:10028649 OMIM:300695 MEDGEN:10135 ICD9:728.3 DOID:423 MedDRA:10028641 ICD9:359.9 SCTID:129565002 NCIT:C101216 SCTID:75047002 ICD9:359.8 MONDO:0005336" "The amount of a protein GOLM2 when measured in blood serum." "CAS:50892-23-4 ChemIDplus:50892-23-4 Wikipedia:Pirinixic_Acid ChEMBL:162864 KEGG:C15617 MeSH:C006253 LINCS:LSM-2015 NCIt:C29866" "P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." "NANDO:2200669 MESH:C565220 Orphanet:36355 SCTID:725291001 UMLS:C1853278 OMIM:609821 DOID:0060692 MEDGEN:344008 GARD:12478" @@ -3498,7 +3498,7 @@ "OMIM:310440 ICD10:G71.8" - "Initial section of the oviduct through which the ova pass from the ovary to the uterus." "CALOHA:TS-0732 EMAPA:35660 Wikipedia:Fallopian_tube EV:0100112 NCIT:C12403 MESH:D005187 MA:0000385 GAID:365 galen:FallopianTube SCTID:181463001 EHDAA2:0000504 UMLS:C0015560 FMA:18245" + "Initial section of the oviduct through which the ova pass from the ovary to the uterus." "CALOHA:TS-0732 FMA:18245 EMAPA:35660 Wikipedia:Fallopian_tube EV:0100112 NCIT:C12403 MESH:D005187 MA:0000385 GAID:365 galen:FallopianTube SCTID:181463001 EHDAA2:0000504 UMLS:C0015560" "A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." @@ -4820,7 +4820,7 @@ "In the heart, the atrium is an upper chamber found on both sides of the heart. The left atrium receives red, oxygenated blood from the lungs by way of the pulmonary veins. The right atrium receives dark red blood from the other parts of the body." "MA:0000073 FMA:85574 TAO:0000471 MeSH:D006325 EMAPA:16688 MAT:0000496 BTO:0000903 EHDAA:1265 EV:0100018 MFO:0080900" "GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" "UMLS:C0700299 MedDRA:10002058 HP:0005511 MEDGEN:148583 DOID:0111363 MESH:C563030 OMIM:140700 Orphanet:178330" - "A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." "UMLS:C1710112 MONDO:0006421 EFO:1000538 MEDGEN:328036 NCIT:C43552" + "A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." "MONDO:0006421 EFO:1000538 MEDGEN:328036 NCIT:C43552 UMLS:C1710112" "Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol." "Orphanet:35107 GARD:10283 ICD9:272.8 MEDGEN:400801 OMIM:602398 SCTID:709490002 MESH:C566555 UMLS:C1865596" "Quantification of the amount of methyl glucopyranoside (alpha + beta) in a sample." "PMID:35347128" "The amount of a NADP-dependent malic enzyme when measured in blood serum." @@ -5011,7 +5011,7 @@ "A benzodiazepine that is 10H-thieno[2,3-b][1,5]benzodiazepine substituted by a methyl group at position 2 and a 4-methylpiperazin-1-yl group at position 4." "PMID:18504690 Reaxys:7655141 CAS:132539-06-1 PMID:18022155 DrugBank:DB00334 SNOMEDCT:386849001 Patent:US5229382 KEGG:C07322 Patent:EP454436 NCIt:C47639 KEGG:D00454 Wikipedia:Olanzapine Drug_Central:1982 MeSH:C076029 PMID:18792627 SNOMEDCT:108441004" "Quantification of the amount of 3-Methylcrotonyl glycine in a sample." "PMID:33634981" "Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region." "GARD:20075 UMLS:C4749346 Orphanet:166308 MEDGEN:1663004" - "Epithelial tube that transports milk[GO]." "CALOHA:TS-2385 UMLS:C0222613 SCTID:361719004 NCIT:C32910 MA:0000791 EMAPA:35538 BTO:0002845 Wikipedia:Lactiferous_duct FMA:58006" + "Epithelial tube that transports milk[GO]." "CALOHA:TS-2385 UMLS:C0222613 SCTID:361719004 MA:0000791 NCIT:C32910 EMAPA:35538 BTO:0002845 Wikipedia:Lactiferous_duct FMA:58006" "Mature CD8_alpha-low Langerhans cell is a CD8_alpha-low Langerhans cell that that is CD80-high, CD86-high, MHCII-high and is CD83-positive." "An instance of cutis laxa that is acquired during the lifetime of the individual." "GARD:20586 SCTID:19726003 Orphanet:228285 MEDGEN:590500 UMLS:C0406549" @@ -5171,7 +5171,7 @@ "OMIM:618364 OMIM:614937 ICD10:G25.3" - "A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells." "NCIT:C40112 DOID:3173 MEDGEN:275874 UMLS:C1517123" + "A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells." "NCIT:C40112 DOID:3173 UMLS:C1517123 MEDGEN:275874" "The amount of a dihydrolipoyl dehydrogenase, mitochondrial when measured in blood serum." "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." "OMIM:602849 GARD:7097 MEDGEN:355217 Orphanet:53271 SCTID:440350001 MESH:C537369 DOID:0060703 NCIT:C84904 UMLS:C1864436" @@ -5808,7 +5808,7 @@ "The amount of a CDGSH iron-sulfur domain-containing protein 1 when measured in blood serum." "The amount of a plastin-1 when measured in blood serum." - "Human pancreatic neuroendocrine tumor cell line" "RRID:CVCL_3985 BTO:0003856" + "Human pancreatic neuroendocrine tumor cell line" "BTO:0003856 RRID:CVCL_3985" "A congenital or acquired aneurysm within the cranium." "UMLS:C0751003 SNOMEDCT:128609009 SNOMEDCT:125236003 MEDGEN:196706 NCIt:C27208 MONDO:0005291 MESH:D002532 MeSH:D002532 DOID:10941 SNOMEDCT:277196008" "UMLS:C0432335 OMIM:614100" "UMLS:C5561980 OMIM:619518 MEDGEN:1794190" @@ -5836,7 +5836,7 @@ "Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris." "UMLS:C0003076 SNOMEDCT_US:69278003" "Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities." "Orphanet:101028 GARD:10445 MESH:C563207 MEDGEN:224855 SCTID:124252008 OMIM:606003 UMLS:C1291329 ICD9:277.6" - "NCIt:C412 DrugBank:DB00970 SNOMEDCT:64127001 KEGG:C06770 MeSH:D003609 Wikipedia:Dactinomycin SNOMEDCT:387353003 CAS:50-76-0 Drug_Central:774 Beilstein:4173766 KEGG:D00214 LINCS:LSM-5783" + "NCIt:C412 DrugBank:DB00970 SNOMEDCT:64127001 KEGG:C06770 MeSH:D003609 Wikipedia:Dactinomycin SNOMEDCT:387353003 CAS:50-76-0 Drug_Central:774 Beilstein:4173766 LINCS:LSM-5783 KEGG:D00214" "A thymocyte that has a T cell receptor consisting of a gamma chain containing Vgamma2 segment, and a delta chain. This cell type is CD4-negative, CD8-negative and CD24-negative. This cell-type is found in the fetal thymus." "DOID:0080981 OMIM:618947 MEDGEN:1731112 UMLS:C5436453" "Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails." "MESH:C562907 GARD:10363 UMLS:C0406443 DOID:0080079 MEDGEN:96056 SCTID:238719003 ICD9:703.8 DOID:0080088 OMIM:161050 Orphanet:79153" @@ -5865,7 +5865,7 @@ "ICD10:Q93.5" "OMIM:276950 ICD10:Q87.8 OMIM:314390" - "A dentine-like hypermineralized substance that covers the tooth tip. Enamel's primary mineral is hydroxylapatite, which is a crystalline calcium phosphate. Unlike dentin and bone, enamel does not contain collagen. Instead, it has two unique classes of proteins called amelogenins and enamelins[WP]." "SCTID:362113009 EMAPA:35303 UMLS:C0011350 MA:0002543 VSAO:0000065 Wikipedia:Enamel_organ XAO:0004198 MESH:D003743 BTO:0001844 FMA:55629 NCIT:C32505 CALOHA:TS-1057" + "A dentine-like hypermineralized substance that covers the tooth tip. Enamel's primary mineral is hydroxylapatite, which is a crystalline calcium phosphate. Unlike dentin and bone, enamel does not contain collagen. Instead, it has two unique classes of proteins called amelogenins and enamelins[WP]." "CALOHA:TS-1057 SCTID:362113009 EMAPA:35303 UMLS:C0011350 MA:0002543 VSAO:0000065 Wikipedia:Enamel_organ XAO:0004198 MESH:D003743 BTO:0001844 FMA:55629 NCIT:C32505" "quantification of the amount of chromogranin B cleavage product in a sample" "MeSH:C537986 MeSH:C538078 ICD10:G60.0 OMIM:118300 UMLS:C1861669 UMLS:C2931686" @@ -6003,7 +6003,7 @@ "ICD10:Q87.5 MeSH:C537493 UMLS:C1858084 OMIM:604841" - "A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene." "UMLS:C0022782 MedDRA:10024394 ICD10:N48.0 ICD9:607.0 MeSH:D052798 SCTID:3323003 MONDO:0006830 DOID:8738 MEDGEN:44036 SNOMEDCT:3323003 NCIT:C3151" + "A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene." "MedDRA:10024394 UMLS:C0022782 ICD10:N48.0 ICD9:607.0 MeSH:D052798 SCTID:3323003 MONDO:0006830 DOID:8738 MEDGEN:44036 SNOMEDCT:3323003 NCIT:C3151" "DOID:0070066 MEDGEN:899880 UMLS:C4225352 Orphanet:457284 OMIM:616362 GARD:17803" @@ -6572,7 +6572,7 @@ "X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." "ICD10:D64.0 OMIM:300751 MeSH:C536761" "UMLS:C5543538 MEDGEN:1781627 OMIM:619373" "Quantification of the amount of 11(12)-EET in a sample." "PMID:35995766" - "Orphanet:206970 GARD:20372 MEDGEN:107510 MESH:D020967 MedDRA:10028658 UMLS:C0553604" + "GARD:20372 MEDGEN:107510 MESH:D020967 MedDRA:10028658 UMLS:C0553604 Orphanet:206970" "A measure of the thickness of the ganglion cell inner plexiform layer (GCIPL). It is typically measured using optical imaging methods such as optical coherence tomography (OCT). The thickness of the ganglion cell complex (GCC), the collective name for the retinal nerve fibre layer and the ganglion cell inner plexiform layer, is one of the biomarkers used in the diagnosis of primary open angle glaucoma (POAG)." "PMID:33979322" "Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies." "DOID:10034 ICD9:367.5 UMLS:C0152198 SCTID:54552008 MEDGEN:508925" "ICD10:Q82.8" @@ -6953,7 +6953,7 @@ "The amount of a cystic fibrosis transmembrane conductance regulator when measured in blood serum." "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." "ICD9:278.00 NIFSTD:nlx_dys_20090302 SCTID:414916001 MEDGEN:18127 NCIt:C3283 MONDO:0011122 DOID:9970 OMIM:601665 MedDRA:10029883 MeSH:D009765 HP:0001513 Orphanet:521399 SNOMEDCT:414916001 UMLS:C0028754 NCIT:C3283 MedDRA:10029885 ICD10:E66 ICD9:278.0" - "An alpha-tocopherol that has R,R,R configuration. The naturally occurring stereoisomer of alpha-tocopherol, it is found particularly in sunflower and olive oils." "PMID:31013594 PMID:19663978 PMID:28694484 PMID:20209471 PMID:23599266 SNOMEDCT:116776001 LIPID_MAPS_instance:LMPR02020001 Chemspider:14265 SNOMEDCT:37237003 KNApSAcK:C00007366 PMID:14657365 KEGG:C02477 Reaxys:94012 NCIt:C2832 Wikipedia:Alpha-Tocopherol MetaCyc:ALPHA-TOCOPHEROL PMID:16512933 PMID:17031012 PMID:19389964 PMID:33197771 PDBeChem:VIV PMID:21591326 PMID:17310859 PMID:11427352 DrugBank:DB00163 HMDB:HMDB0001893 Beilstein:94012 Drug_Central:4280 CAS:59-02-9 FooDB:FDB000565 PMID:12899840 Beilstein:5300493 MeSH:D014810" + "An alpha-tocopherol that has R,R,R configuration. The naturally occurring stereoisomer of alpha-tocopherol, it is found particularly in sunflower and olive oils." "PMID:31013594 PMID:19663978 PMID:28694484 PMID:20209471 PMID:23599266 SNOMEDCT:116776001 LIPID_MAPS_instance:LMPR02020001 Chemspider:14265 SNOMEDCT:37237003 KNApSAcK:C00007366 PMID:14657365 KEGG:C02477 Reaxys:94012 NCIt:C2832 Wikipedia:Alpha-Tocopherol MetaCyc:ALPHA-TOCOPHEROL PMID:16512933 PMID:17031012 PMID:19389964 PMID:33197771 PMID:21591326 PDBeChem:VIV PMID:17310859 PMID:11427352 DrugBank:DB00163 HMDB:HMDB0001893 Beilstein:94012 Drug_Central:4280 CAS:59-02-9 FooDB:FDB000565 PMID:12899840 Beilstein:5300493 MeSH:D014810" "Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood." "SCTID:717264003 UMLS:C0432227 GARD:10429 MEDGEN:96583 OMIM:113500 Orphanet:93304" "Rapid whole-genome sequencing (STATseq)" "PMID:25937001" "Inbred Strain." "TGEMO:00052 MGI:2162087" @@ -7543,7 +7543,7 @@ "OMIM:613076 ICD10:G71.3" "Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." "MEDGEN:66315 Orphanet:93296 UMLS:C0220685 GARD:8713 MESH:C536017 OMIM:200610 DOID:0080056 NANDO:2201345" "A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs." "GARD:17105 OMIM:612237 ONCOTREE:EMCHS NCIT:C27502 SCTID:404079008 MESH:C563195 MEDGEN:220892 DOID:6496 ICD9:171.9 UMLS:C1275278 Orphanet:209916" - "That portion of the spine comprising the cervical vertebrae. The neck area of the spine." "EHDAA2:0000238 EMAPA:17215 BTO:0004148 MA:0003154 EHDAA:5051 NCIT:C69313 AAO:0000092 SCTID:260488005 UMLS:C0728985 FMA:24138" + "That portion of the spine comprising the cervical vertebrae. The neck area of the spine." "FMA:24138 EHDAA2:0000238 EMAPA:17215 BTO:0004148 MA:0003154 EHDAA:5051 NCIT:C69313 AAO:0000092 SCTID:260488005 UMLS:C0728985" "Peripheral neuropathy affecting the sensory nerves." "UMLS:C0151313 SNOMEDCT_US:95662005" "Human acute myelomonocytic leukemia cell line with FLT3 ITD" "PMID:1568450 RRID:CVCL_A425" @@ -9635,7 +9635,7 @@ "Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." "OMIM:261750 ICD10:E74.0" "An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive." "UMLS:C4305104 SCTID:718880003 Orphanet:50812 MEDGEN:930773 GARD:18841" "Human pancreatic adenocarcinoma cell line." "RRID:CVCL_3917 BTO:0003303" - "The most superficial muscle of the triceps surae group, in the posterior portion of the lower hindleg." "UMLS:C0242691 MA:0002306 EHDAA:8293 Wikipedia:Gastrocnemius_muscle FMA:22541 EFO:0001413 NCIT:C32666 EHDAA2:0000701 galen:Gastrocnemius VHOG:0001193 SCTID:181700004 EMAPA:35375 BTO:0000506" + "The most superficial muscle of the triceps surae group, in the posterior portion of the lower hindleg." "UMLS:C0242691 MA:0002306 EHDAA:8293 Wikipedia:Gastrocnemius_muscle FMA:22541 NCIT:C32666 EFO:0001413 EHDAA2:0000701 galen:Gastrocnemius VHOG:0001193 SCTID:181700004 EMAPA:35375 BTO:0000506" "Quantification of the ratio of C-glycosyltryptophan to succinylcarnitine in a sample." "PMID:24816252" "Quantification of the amount of 3,7-dimethylurate in a sample." "PMID:35347128" "Quantification of the amount of X-11438 in a sample." "PMID:24816252" @@ -9966,7 +9966,7 @@ "Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion." "SCTID:12694001 SNOMEDCT:12694001 DOID:3933 MeSH:D000868 UMLS:C0003152 NCIt:C118422 MONDO:0006648 MEDGEN:1569 MESH:D000868" "A disorder of the vasculature of the cornea." "DOID:10989 NCIT:C35116 ICD9:372.74 MEDGEN:12052 SCTID:74100001 UMLS:C0042370" "The amount of a hepatoma-derived growth factor-like protein 1 when measured in blood serum." - "A member of the class of barbiturates, the structure of which is that of barbituric acid substituted at C-5 by ethyl and phenyl groups." "Gmelin:336231 Drug_Central:2134 PMID:16789751 PMID:17481896 PMID:12873507 PMID:6716399 Reaxys:233363 PMID:8691481 PMID:3950916 PMID:15324906 PMID:1681105 PMID:10891117 PMID:1495012 PMID:16793262 PMID:1875341 PMID:16190747 PMID:3654008 PMID:3950919 PMID:2061925 PMID:12361404 PMID:8246220 CAS:50-06-6 PMID:2724304 Beilstein:233363 PMID:3820228 Wikipedia:Phenobarbital PMID:9016327 PMID:9544213 PMID:8035421 PMID:4032429 PMID:7562939 Patent:US1025872 PMID:7799408 PMID:2296016 PMID:17827020 PMID:8230125 PMID:17870541 PMID:2308142 SNOMEDCT:51073002 PMID:3735320 PMID:3336019 PMID:10866370 PMID:3783590 PMID:3572984 PMID:7381857 DrugBank:DB01174 PMID:17300161 NCIt:C739 PMID:2579237 MeSH:D010634 PMID:6864729 PMID:11311072 PMID:16139502 PMID:1992141 KEGG:D00506 PMID:2308141 PMID:3599019 PMID:3016269 HMDB:HMDB0015305 KEGG:C07434 PMID:6737420 PMID:8627613 PMID:15857133 PMID:7205879 PMID:2170646 SNOMEDCT:373505007 PMID:3783589" + "A member of the class of barbiturates, the structure of which is that of barbituric acid substituted at C-5 by ethyl and phenyl groups." "Gmelin:336231 Drug_Central:2134 PMID:16789751 PMID:17481896 PMID:12873507 PMID:6716399 Reaxys:233363 PMID:8691481 PMID:15324906 PMID:3950916 PMID:1681105 PMID:10891117 PMID:1495012 PMID:16793262 PMID:1875341 PMID:16190747 PMID:3654008 PMID:3950919 PMID:2061925 PMID:12361404 PMID:8246220 CAS:50-06-6 PMID:2724304 Beilstein:233363 PMID:3820228 Wikipedia:Phenobarbital PMID:9016327 PMID:9544213 PMID:8035421 PMID:4032429 PMID:7562939 Patent:US1025872 PMID:7799408 PMID:2296016 PMID:17827020 PMID:8230125 PMID:17870541 PMID:2308142 SNOMEDCT:51073002 PMID:3735320 PMID:3336019 PMID:10866370 PMID:3783590 PMID:3572984 PMID:7381857 DrugBank:DB01174 PMID:17300161 NCIt:C739 PMID:2579237 MeSH:D010634 PMID:6864729 PMID:11311072 PMID:16139502 PMID:1992141 KEGG:D00506 PMID:2308141 PMID:3599019 PMID:3016269 HMDB:HMDB0015305 KEGG:C07434 PMID:6737420 PMID:8627613 PMID:15857133 PMID:7205879 PMID:2170646 SNOMEDCT:373505007 PMID:3783589" "An abnormally decreased level of immunoglobulin in blood." "SNOMEDCT_US:119250001 UMLS:C4048270 UMLS:C0086438" "Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis." "MEDGEN:1637079 UMLS:C4706585 GARD:21762 Orphanet:423894" @@ -10429,7 +10429,7 @@ "The maximum rate of gas flow, beginning at the point of peak inspiratory capacity, that can be sustained during forced exhalation for a defined period of time." "PMID:30804560 NCIt:C41372" "Acute otitis media is a short and generally painful infection of the middle ear." "UMLS:C0271429 SNOMEDCT_US:3110003" - "An epithelium that is part of a nasopharynx [Automatically generated definition]." "VHOG:0001038 CALOHA:TS-0662 EMAPA:17672 BTO:0004480 MA:0001865 NCIT:C49263 EHDAA2:0001241 UMLS:C1179157 FMA:62452 EHDAA:7090" + "An epithelium that is part of a nasopharynx [Automatically generated definition]." "VHOG:0001038 EMAPA:17672 CALOHA:TS-0662 BTO:0004480 MA:0001865 EHDAA2:0001241 NCIT:C49263 UMLS:C1179157 FMA:62452 EHDAA:7090" "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." "OMIM:300448 ICD10:D46.7 ICD10:D56.0" "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction." "MEDGEN:76097 UMLS:C0280328 SCTID:707427000 NCIT:C8188 DOID:3752" @@ -11574,7 +11574,7 @@ "Quantification of the amount of hexadecanedioate in a sample." "PMID:24816252" "OMIM:614921 ICD10:E77.8" - "Anatomical system that consists of all the joints of the body." "FMA:23878 EMAPA:35150 VSAO:0000181 MA:0003007 SCTID:361827000" + "Anatomical system that consists of all the joints of the body." "FMA:23878 VSAO:0000181 EMAPA:35150 MA:0003007 SCTID:361827000" "An all pairs study design type is where all labeled extracts are compared to every other labeled extract." "MO:565" "A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture." "UMLS:C4021028" "Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia." "OMIM:608545 MEDGEN:325280 Orphanet:2370 UMLS:C1837884 MESH:C563914 GARD:16595" @@ -11669,7 +11669,7 @@ "Systemic inflammatory response to infection." "UMLS:C0036690" "An inherited susceptibility or predisposition to developing basal cell carcinoma." - "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." "UMLS:C0024437 NCIT:C123330 DOID:4448 MONDO:0003004 MESH:D008268 MEDGEN:7434 MedDRA:10025409 SCTID:422338006" + "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." "UMLS:C0024437 NCIT:C123330 DOID:4448 MONDO:0003004 MedDRA:10025409 MESH:D008268 MEDGEN:7434 SCTID:422338006" "A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies." "HP:0007720 OMIMPS:121400 UMLS:C0344529 Orphanet:53691 GARD:16657 SCTID:204145006 DOID:0060287 MEDGEN:576329 ICD10CM:Q13.4" @@ -12162,7 +12162,7 @@ "The valve between the left atrium and left ventricle of the heart." "MeSH:D008943" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholinesterase inhbitor stimulus." - "A viral infection of mice, causing edema and necrosis followed by limb loss." "MeSH:D004482 DOID:3296 MESH:D004482 MONDO:0005809" + "A viral infection of mice, causing edema and necrosis followed by limb loss." "DOID:3296 MeSH:D004482 MESH:D004482 MONDO:0005809" "quantification of the pneumoprotein surfactant protein D. This protein is an innate immune protein and plays a role in pulmonary host defence and the modulation of allergic responses. Several human lung diseases are characterized by decreased levels of bronchoalveolar SP-D." "NCIt:C111322" "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated." "MEDGEN:483740 OMIM:221750 UMLS:C3489787 MESH:C536710 GARD:10603 Orphanet:231720" "ICD9:291.89 DOID:251 ICD9:291.8 UMLS:C5200920 MEDGEN:1705315" @@ -13326,7 +13326,7 @@ "OMIM:618356 MEDGEN:1674767 UMLS:C5193049" "icd11.foundation:679333287 GARD:20002 Orphanet:156252" - "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" "MeSH:D020144 UMLS:C0751739 MEDGEN:148381 MONDO:0006505 DOID:10991 MESH:D020144" + "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" "MeSH:D020144 UMLS:C0751739 MEDGEN:148381 DOID:10991 MONDO:0006505 MESH:D020144" "Quantification of palmitoyl-arachidonoyl-glycerophosphocholine (2) in a sample." "A unit which is a standard measure of the flow of electric charge." "A carcinoma that arises from epithelial cells of the exocrine pancreas" "SCTID:372142002 UMLS:C0235974 DOID:4905 OMIM:260350 NCIT:C3850 MONDO:0005192 EFO:0002618 MEDGEN:65917" @@ -13445,7 +13445,7 @@ "Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." "OMIM:216411 OMIM:610758 ICD10:Q87.1 DOID:2962 UMLS:C0009207 MedDRA:10009835 MeSH:D003057 OMIM:610756 OMIM:133540 OMIM:214150 OMIM:216400 OMIM:278780" "Quantification of 39S ribosomal protein L52, mitochondrial in a sample." "PMID:29875488" "An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." "MedDRA:10020718 MEDGEN:43784 SNOMEDCT:76197007 UMLS:C0020507 NCIt:C3113 MONDO:0005043 MeSH:D006965 NCIT:C3113 MESH:D006965" - "A carcinoma that arises from glandular epithelial cells of the prostate gland" "NCIT:C2919 OMIM:176807 DOID:2526 MONDO:0005082 SCTID:399490008 EFO:0000673 UMLS:C0007112 ONCOTREE:PRAD MEDGEN:764" + "A carcinoma that arises from glandular epithelial cells of the prostate gland" "OMIM:176807 NCIT:C2919 DOID:2526 MONDO:0005082 SCTID:399490008 EFO:0000673 UMLS:C0007112 ONCOTREE:PRAD MEDGEN:764" "MeSH:D012763 SNOMEDCT:85729005 NCIt:C86746 ICD9:004.1" "Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. It develops during the last month of pregnancy, or within 5 months after the baby is born. Cardiomyopathy occurs when there is damage to the heart. As a result, the heart muscle becomes weak and does not pump well. This affects the lungs, liver, and other body systems.\n\nPeripartum cardiomyopathy is a form of dilated cardiomyopathy in which no other cause of heart weakening can be found.\n\nIt may occur in childbearing women of any age, but it is most common after age 30." "DOID:9997 ICD10CM:O90.3 UMLS:C0877208 SNOMEDCT:62377009 ICD9:674.5 SCTID:62377009 ICD9:674.54 GARD:220 NCIT:C171602 MedDRA:10049430 MEDGEN:163756 Orphanet:563 MONDO:0018920 icd11.foundation:1218807936" "OMIM:620369 UMLS:C5830501 DOID:0081355 MEDGEN:1841137" @@ -13726,7 +13726,7 @@ "OMIM:619083 UMLS:C5436771 GARD:18533 MEDGEN:1725056" "A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion." "DOID:9898 NCIT:C3401 DOID:2702 ONCOTREE:TGCT GARD:7396 ICD9:719.20 NORD:1916 ICDO:9251/0 ICD9:719.28 UMLS:C0039106 ICD10CM:M12.2 Orphanet:66627 ICD9:719.2 MEDGEN:11691 MESH:D013586 SCTID:95412009" "Quantification of the amount of interleukin-17D measurement in a sample." "PMID:36168886" - "Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." "DOID:14041 MESH:D014383 UMLS:C0041310 MONDO:0006743 MEDGEN:52884 MeSH:D014383" + "Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." "DOID:14041 MESH:D014383 UMLS:C0041310 MeSH:D014383 MONDO:0006743 MEDGEN:52884" "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." "ICD10:E75.1 OMIM:230650" "Quantification of istamycin C1 in blood plasma." "KEGG COMPOUND:C17996" "A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION." "ICD9:404.13 ICD9:428 SNOMEDCT:42343007 UMLS:C0018802 SCTID:42343007 ICD9:404.01 NCIt:C3080 ICD9:428.9 NCIT:C3080 ICD9:404.11 MEDGEN:9169 ICD9:428.0 MedDRA:10010684 DOID:6000 MONDO:0005009" @@ -13760,7 +13760,7 @@ "Quantification of the amount of X-12524 in a sample." "PMID:24816252" "UMLS:C3150412 MEDGEN:461762 DOID:0112378 OMIM:613151 GARD:18455" "A zone of skin that is part of a eyelid [Automatically generated definition]." "MA:0001256 FMA:24760 NCIT:C52718 UMLS:C0222088 SCTID:245947005 EMAPA:37536" - "A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]." "NCIT:C33038 BTO:0000752 MAT:0000443 CALOHA:TS-2102 VHOG:0001249 EFO:0000873 MA:0000138 SCTID:279089004 EMAPA:35532 XAO:0000375 FMA:30315 Wikipedia:Lymphatic_vessel AAO:0011005 MESH:D042601 UMLS:C0229889" + "A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]." "BTO:0000752 MAT:0000443 CALOHA:TS-2102 VHOG:0001249 EFO:0000873 MA:0000138 SCTID:279089004 EMAPA:35532 XAO:0000375 FMA:30315 Wikipedia:Lymphatic_vessel AAO:0011005 MESH:D042601 UMLS:C0229889 NCIT:C33038" "Quantification of the amount of P-selectin glycoprotein ligand 1 in a sample" "PMID:33067605" "Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations." "NANDO:1200812 DOID:3890 UMLS:C0162565 MESH:D017118 NORD:729 NANDO:2201263 SCTID:234422006 OMIM:176000 NCIT:C84536 Orphanet:79276 MEDGEN:56452 GARD:5732" "Quantification of carboxylic acid levels in a sample." "PMID:23823483" @@ -15696,7 +15696,7 @@ "Any of the light horny epidermal outgrowths that form the external covering of the body of birds and that consist of a shaft bearing on each side a series of barbs which bear barbules which in turn bear barbicels commonly ending in hooked hamuli and interlocking with the barbules of an adjacent barb to link the barbs into a continuous vane." "MAT:0000156 BTO:0000447" "Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." "MedDRA:10018953 UMLS:C0025292 SNOMEDCT:5900006 MESH:D008583 SCTID:5900006 MONDO:0000889 MEDGEN:7535 ICD9:320.0 DOID:10803 DOID:0080179 MeSH:D008583 SCTID:192643004" "Vessels run longitudinally along the horizontal myoseptum. These vessels are not functional until after lumenization which occurs near 4 dpf. Isogai et al. 2003." "ZFA:0005034" - "A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina." "ENVO:02000032 MA:0001286 ZFA:0005561 FMA:58822 MESH:D014822 NCIT:C13323 EV:0100344 VHOG:0000795 BTO:0001451 EMAPA:17837 UMLS:C0229096 Wikipedia:Vitreous_humour CALOHA:TS-0308" + "A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina." "ENVO:02000032 MA:0001286 ZFA:0005561 MESH:D014822 FMA:58822 NCIT:C13323 EV:0100344 VHOG:0000795 BTO:0001451 EMAPA:17837 UMLS:C0229096 Wikipedia:Vitreous_humour CALOHA:TS-0308" "The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." "NCIt:C118475 UMLS:C1692886 MESH:D001170 DOID:813 MedDRA:10021904 NCIT:C26700 MeSH:D001170 ICD9:711.96 ICD9:711.92 UMLS:C3891815 ICD9:711.40 ICD9:711.95 ICD9:711.91 MEDGEN:308434 ICD10:M00 ICD9:711.97 ICD9:711.93 SCTID:48245008 MONDO:0004471 ICD9:711.9 MedDRA:10040057 NCIT:C26699 ICD9:711.94 ICD9:711.0 ICD9:711.90 NANDO:2200437" "Quantification of the change in amygdala volume over time." "PMID:35383335" @@ -16134,7 +16134,7 @@ "A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather." "ICD9:277.0 MeSH:D003550 DOID:1485 SNOMEDCT:190905008 OMIM:219700 ICD9:277.00 SNOMEDCT:190911006 NCIt:C2975" "The amount of a Fos-related antigen 2 when measured in blood serum." - "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." "MONDO:0006389 UMLS:C1335518 MEDGEN:233356 EFO:1000498 NCIT:C5522 DOID:3252" + "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." "UMLS:C1335518 MEDGEN:233356 EFO:1000498 NCIT:C5522 DOID:3252 MONDO:0006389" "Any of six small voluntary muscles that pass between the eyeball and the orbit and control the movement of the eyeball in relation to the orbit." "BTO:0001579 FMA:49033" "a benign rare chronic inflammatory disorder. Its primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes." "Orphanet:482 GARD:6835 MESH:D000796 Wikipedia:Kimura's_disease MESH:D000082242 MEDGEN:46183 NCIT:C26867 UMLS:C0033838 DOID:7365 MedDRA:10048640 MONDO:0018830" "Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)." "SNOMEDCT_US:275478007 UMLS:C1855285 UMLS:C1305420" @@ -16390,7 +16390,7 @@ "SNOMEDCT:64840009 MeSH:D001413" "a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costa’s acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." "MESH:C535653 MONDO:0007047 Orphanet:38 UMLS:C0545044 MEDGEN:107467 DOID:0060362 GARD:125 OMIM:101850" "DOID:0081156 UMLS:C4540380 MEDGEN:1614928 OMIM:617765" - "A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." "DOID:0080777 EFO:1000336 NCIT:C45540 ICD9:162.9 ONCOTREE:SARCL MEDGEN:353871 UMLS:C1708781 MONDO:0006279 SCTID:707460002" + "A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." "EFO:1000336 NCIT:C45540 ICD9:162.9 ONCOTREE:SARCL MEDGEN:353871 UMLS:C1708781 MONDO:0006279 SCTID:707460002 DOID:0080777" "ICD10:D55.2" "A benign tumor consisting of vascular and smooth muscle elements." "NCIt:C3747 DOID:4265 SNOMEDCT:86959002 MeSH:D018229" "SNOMEDCT:227105000" @@ -16514,7 +16514,7 @@ "Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene." "DOID:0111220 OMIM:255200 MESH:C562934 UMLS:C0410204 GARD:15208 MEDGEN:98049" "Abnormal level of metabolite or other abnormal analyte result in a stool test." "A chemical entity constituting the smallest component of an element having the chemical properties of the element." "NCIt:C48792 SNOMEDCT:290004009 MeSH:D004602 NCIt:C1940" - "A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." "UMLS:C0346181 EFO:1000413 SCTID:254870004 NCIT:C4515 DOID:5550 MEDGEN:91089 MONDO:0003507" + "A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." "UMLS:C0346181 EFO:1000413 SCTID:254870004 DOID:5550 NCIT:C4515 MEDGEN:91089 MONDO:0003507" "COMe:PRX000321" "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases." "NCIT:C118420 MEDGEN:583054 ICD9:478.19 NANDO:1100015 SCTID:232208008 UMLS:C0395797 MESH:D010038" "Quantification of DNA excision repair protein ERCC-1 in a sample." "PMID:29875488" @@ -17222,7 +17222,7 @@ "An established epithelial cell line derived from an adenocarcinoma of human endometrial lining." "RRID:CVCL_7260" "Quantification of the amount of lactosyl-N-behenoyl-sphingosine (d18:1/22:0) in a sample." "PMID:35347128" "a reference substance role that is borne by a material entity with a known amount which is mixed into the evaluant of assays for quality control or data normalization purposes"@en - "A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar ( CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues." "MeSH:D007627 NCIt:C3145 MEDGEN:7197 MedDRA:10023329 ICD9:701.4 MONDO:0005348 UMLS:C0022548 SNOMEDCT:58405006 MESH:D007627 NCIT:C3145 SCTID:33659008" + "A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar ( CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues." "MeSH:D007627 MEDGEN:7197 NCIt:C3145 MedDRA:10023329 ICD9:701.4 MONDO:0005348 UMLS:C0022548 SNOMEDCT:58405006 MESH:D007627 NCIT:C3145 SCTID:33659008" "A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma." "UMLS:C0238519 NCIT:C7737 DOID:1901 MEDGEN:65971" "A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported." "GARD:17101 UMLS:C1970211 MEDGEN:369682 Orphanet:206580 OMIM:611067 MESH:C567023 DOID:0111213" @@ -18748,7 +18748,7 @@ "DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome." "MESH:C563052 SCTID:719800009 NORD:1058 OMIM:220500 Orphanet:79500 MEDGEN:208648 GARD:1685 DOID:0111627 UMLS:C0795934" "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene." "MESH:C566500 UMLS:C1864987 MEDGEN:400655 DOID:0111183 GARD:10974 OMIM:609634" "Quantification of phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha in a sample." "PMID:29875488" - "A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear." "DOID:11433 ICD9:385.33 DOID:10964 ICD10:H71 ICD10CM:H71 SCTID:194339007 MedDRA:10008645 ICD9:385.32 UMLS:C0155490 ICD9:385.3 MEDGEN:57836 MeSH:D018424 NCIT:C3654 MESH:D018424 MONDO:0006533" + "A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear." "DOID:11433 ICD9:385.33 DOID:10964 ICD10:H71 ICD10CM:H71 SCTID:194339007 ICD9:385.32 MedDRA:10008645 UMLS:C0155490 ICD9:385.3 MEDGEN:57836 MeSH:D018424 NCIT:C3654 MESH:D018424 MONDO:0006533" "An O-acylcarnitine having isobutyryl as the acyl substituent." "PMID:23315938" "Quantification of whether an individual feels or felt worried." "PMID:29500382" @@ -18827,7 +18827,7 @@ "A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24." "OMIM:116700 UMLS:C3805373 DOID:0110242 MEDGEN:811703" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene." "MESH:C564362 MEDGEN:375157 GARD:18270 DOID:0111202 UMLS:C1843315 OMIM:607641" - "A continuation of the pharynx that is involved in breathing, sound production, and protecting the trachea against food aspiration." "MAT:0000187 BTO:0001208 NCIT:C12420 FMA:55097 MESH:D007830 Wikipedia:Larynx SCTID:181212004 MA:0000414 CALOHA:TS-0532 UMLS:C0023078 EHDAA2:0004063 galen:Larynx XAO:0003081 AAO:0000268 EV:0100039 EMAPA:18333 VHOG:0001279 GAID:108 EFO:0000838 MIAA:0000187" + "A continuation of the pharynx that is involved in breathing, sound production, and protecting the trachea against food aspiration." "MAT:0000187 BTO:0001208 NCIT:C12420 FMA:55097 MESH:D007830 Wikipedia:Larynx SCTID:181212004 MA:0000414 CALOHA:TS-0532 UMLS:C0023078 EHDAA2:0004063 galen:Larynx AAO:0000268 XAO:0003081 EV:0100039 EMAPA:18333 VHOG:0001279 GAID:108 EFO:0000838 MIAA:0000187" "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology." "GARD:12453 OMIM:608340 MESH:C564256 DOID:0110201 MEDGEN:334012 Orphanet:217055 UMLS:C1842197" "quantification of the ratio between two body measures, eg waist-hip ratio" "GARD:2322" @@ -21166,7 +21166,7 @@ "Nephrosis-deafness-urinary tract-digital malformations syndrome is characterized by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant." "UMLS:C1850552 GARD:3943 MESH:C536402 Orphanet:2669 MEDGEN:340568 OMIM:256200" "The age at which colorectal cancer manifestations first appear." "Quantification of the amount of X-25417 in a sample." "PMID:35347128" - "A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\t" "DOID:11433 ICD9:385.33 DOID:10964 ICD10:H71 ICD10CM:H71 SCTID:194339007 MedDRA:10008645 ICD9:385.32 UMLS:C0155490 ICD9:385.3 MEDGEN:57836 MeSH:D018424 NCIT:C3654 MESH:D018424 MONDO:0006533" + "A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\t" "DOID:11433 ICD9:385.33 DOID:10964 ICD10:H71 ICD10CM:H71 SCTID:194339007 ICD9:385.32 MedDRA:10008645 UMLS:C0155490 ICD9:385.3 MEDGEN:57836 MeSH:D018424 NCIT:C3654 MESH:D018424 MONDO:0006533" "Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." "MeSH:C536452 UMLS:C1857532 ICD10:Q87.5 OMIM:218090" "A metaphysis that is part of a femur." "FMA:32875 MA:0003052 EMAPA:37540" "OMIMPS:614592" @@ -21292,7 +21292,7 @@ "The amount of a phosphatidylcholine 14:0_16:0 when measured in blood serum." "OMIM:619736 MEDGEN:1809276 UMLS:C5676911 DOID:0081074" - "Inflammation of the myocardium in acute rheumatic heart disease." "NCIT:C35202 MEDGEN:56370 UMLS:C0155557 ICD9:391.9 SCTID:195136004 ICD9:398.0 DOID:8481" + "Inflammation of the myocardium in acute rheumatic heart disease." "DOID:8481 NCIT:C35202 MEDGEN:56370 UMLS:C0155557 ICD9:391.9 SCTID:195136004 ICD9:398.0" "Reduced likelihood of being infected by the hepatitis C virus despite exposure." "A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP)." "ICD9:275.49 MESH:D011556 Orphanet:79445 NCIT:C129722 Orphanet:665 SCTID:237659007 GARD:7860 OMIM:612463 DOID:4183 MEDGEN:10995 NANDO:2200348 UMLS:C0033835" "The amount of a SH3KBP1-binding protein 1 when measured in blood serum." @@ -21460,7 +21460,7 @@ "Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." "ICD9:277.89 OMIM:266150 SCTID:87694001 icd11.foundation:2047948460 MONDO:0009949 NCIt:C85040 NCIT:C85040 MESH:D015324 MEDGEN:18801 MeSH:D015324 NANDO:2200519 GARD:7512 DOID:3651 UMLS:C0034341 Orphanet:3008" "A phenotypic abnormality that is present at birth." "UMLS:C1836142 UMLS:C2752013" "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate." "UMLS:C2700007 Orphanet:289661 icd11.foundation:407807101 GARD:21150 ICDO:9680/3 SCTID:716788007 MEDGEN:397690 NCIT:C80281" - "Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis." "DOID:14041 MESH:D014383 UMLS:C0041310 MONDO:0006743 MEDGEN:52884 MeSH:D014383" + "Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis." "DOID:14041 MESH:D014383 UMLS:C0041310 MeSH:D014383 MONDO:0006743 MEDGEN:52884" "A hereditary spastic paraplegia that is part of a larger syndrome." "MEDGEN:581446 UMLS:C0393556 GARD:19823 NANDO:1200054 SCTID:230261006 Orphanet:102013" "The upper part of the larynx, including the epiglottis; the area above the vocal cords." "NCIT:C12279 FMA:55476 SCTID:361953009" "Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." "Orphanet:1809 UMLS:C2930953 SCTID:721147000 MESH:C535621 MEDGEN:443941 GARD:280" @@ -21810,7 +21810,7 @@ "Quantification of the amount of eicosenoate (20:1) in a sample." "PMID:35347128" "Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported." "OMIM:614833 Orphanet:468631 MEDGEN:766745 UMLS:C3553831 GARD:17841" - "A disease involving the urinary bladder." "ICD9:596.9 NCIt:C2900 MEDGEN:2278 ICD10:N32 DOID:365 UMLS:C0005686 MESH:D001745 ICD9:596.8 NCIT:C2900 SCTID:42643001 MONDO:0006026" + "A disease involving the urinary bladder." "MONDO:0006026 ICD9:596.9 NCIt:C2900 MEDGEN:2278 ICD10:N32 DOID:365 UMLS:C0005686 MESH:D001745 ICD9:596.8 NCIT:C2900 SCTID:42643001" "Is the quantification of some antibody" "SNOMEDCT:3527003" "The amount of a nectin-3 when measured in blood serum." @@ -22117,7 +22117,7 @@ "Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus." "GARD:19942 UMLS:C4512051 MEDGEN:1393450 Orphanet:141071" "A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections." "MEDGEN:21596 icd11.foundation:1794729263 MONDO:0005988 SCTID:406619001 DOID:9790 UMLS:C0040553 ICD9:128.0 MeSH:D007816 Orphanet:3343 MedDRA:10044269 MESH:D014120 NCIT:C85194 GARD:18793 NCIT:C34758" "SNOMEDCT:74238009 MeSH:D014346" - "A tetracyclic diterpenoid that has an tetradecahydro-8,11a-methanocyclohepta[a]naphthalene skeleton with two hydroxymethyl substituents at positions 4 and 9, two methyl substituents at positions 4 and 11b and two hydroxy substituents at positions 3 and 9. An antibiotic with antiviral and antimitotical properties. Aphidicolin is a reversible inhibitor of eukaryotic nuclear DNA replication." "CiteXplore:21708134 KEGG COMPOUND:C06088 PMID:22262459 PMID:21897020 Patent:US3761512 CiteXplore:21897020 PMID:29191129 KEGG COMPOUND:38966-21-1 PMID:33592314 PMID:26255574 PMID:22293751 PMID:7478586 KEGG:C06088 PMID:32394671 LINCS:LSM-45486 PMID:31712575 PMID:33721476 CiteXplore:22210918 Beilstein:4689958 CiteXplore:21812410 PMID:19735659 PMID:22210918 CiteXplore:21212237 Reaxys:2055641 CiteXplore:22139884 PMID:21444690 MeSH:D016590 CiteXplore:22302683 KNApSAcK:C00000873 PMID:22339690 PMID:1483268 CiteXplore:22293751 Chemspider:10280269 CiteXplore:22365495 PMID:31403790 ChemIDplus:4689958 PMID:21917855 PMID:27223263 Wikipedia:Aphidicolin PMID:21212237 ChEMBL:139198 PDBeChem:2ZE PMID:21812410 PMID:23221037 CiteXplore:21917855 CiteXplore:22339690 PMID:25429975 PMID:31448675 PMID:27265376 CiteXplore:19735659 CAS:38966-21-1 PMID:24492257 CiteXplore:22262459 MetaCyc:CPD-11426 CiteXplore:21444690 PMID:25948499 PMID:22365495 PMID:22302683 PMID:10592317 PMID:22139884 PMID:21708134 ChemIDplus:38966-21-1 PMID:26854444" + "A tetracyclic diterpenoid that has an tetradecahydro-8,11a-methanocyclohepta[a]naphthalene skeleton with two hydroxymethyl substituents at positions 4 and 9, two methyl substituents at positions 4 and 11b and two hydroxy substituents at positions 3 and 9. An antibiotic with antiviral and antimitotical properties. Aphidicolin is a reversible inhibitor of eukaryotic nuclear DNA replication." "CiteXplore:21708134 KEGG COMPOUND:C06088 PMID:22262459 PMID:21897020 Patent:US3761512 CiteXplore:21897020 PMID:29191129 KEGG COMPOUND:38966-21-1 PMID:33592314 PMID:26255574 PMID:22293751 PMID:7478586 KEGG:C06088 PMID:32394671 LINCS:LSM-45486 PMID:31712575 PMID:33721476 CiteXplore:22210918 Beilstein:4689958 CiteXplore:21812410 PMID:19735659 PMID:22210918 CiteXplore:21212237 Reaxys:2055641 CiteXplore:22139884 PMID:21444690 MeSH:D016590 CiteXplore:22302683 KNApSAcK:C00000873 PMID:22339690 PMID:1483268 CiteXplore:22293751 Chemspider:10280269 CiteXplore:22365495 PMID:31403790 ChemIDplus:4689958 PMID:21917855 PMID:27223263 Wikipedia:Aphidicolin PMID:21212237 ChEMBL:139198 PDBeChem:2ZE PMID:21812410 PMID:23221037 CiteXplore:22339690 CiteXplore:21917855 PMID:25429975 PMID:31448675 PMID:27265376 CiteXplore:19735659 CAS:38966-21-1 PMID:24492257 CiteXplore:22262459 MetaCyc:CPD-11426 CiteXplore:21444690 PMID:25948499 PMID:22365495 PMID:22302683 PMID:10592317 PMID:22139884 PMID:21708134 ChemIDplus:38966-21-1 PMID:26854444" "A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis." "MONDO:0006839 UMLS:C0024164 SCTID:204319006 SNOMEDCT:204319006 DOID:1998 MEDGEN:9825 MeSH:D008185 MESH:D008185" "The amount of a LETM1 domain-containing protein 1 when measured in blood serum." @@ -22169,7 +22169,7 @@ "Any sense organ (FBbt:00005155) that functions in (some) detection of chemical stimulus involved in sensory perception (GO:0050907)." "FMA:46472 ZFA:0001149 MFO:0003640 EHDAA:1502 BTO:0000840 XAO:0003033 EV:0100037 SAEL:72 XAO:0000201 TAO:0001149 FBbt:00005157 MA:0000281 EMAPA:16542 AAO:0000334" "The determination of the amount of mitogen-activated protein kinase 12 in a sample" "PMID:28240269" - "A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis." "DOID:6438 SCTID:255021005 UMLS:C0346388 NCIT:C4561 MEDGEN:138064" + "A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis." "MEDGEN:138064 DOID:6438 SCTID:255021005 UMLS:C0346388 NCIT:C4561" "Quantification of gamma-interferon-inducible protein 16 in a sample." "PMID:29875488" "Any disease which affects part of the skeletal system." "ICD10:M43 MONDO:0005172 SCTID:88230002 MEDGEN:538042 UMLS:C0263661" @@ -22321,7 +22321,7 @@ "A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis." "MESH:C565170 GARD:15707 UMLS:C3151078 MEDGEN:462428 OMIM:613783 NANDO:2200779" "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene." "UMLS:C3554306 GARD:15891 DOID:0060686 MEDGEN:767220 OMIM:615005" "ICD10:D84.8" - "The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]." "MA:0001361 AAO:0000890 CALOHA:TS-1048 SCTID:182061009 galen:Tibia EFO:0003054 UMLS:C0040184 NCIT:C12800 EMAPA:19142 Wikipedia:Tibia FMA:24476 BTO:0001252 GAID:204 MESH:D013977" + "The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]." "MA:0001361 AAO:0000890 CALOHA:TS-1048 SCTID:182061009 galen:Tibia EFO:0003054 UMLS:C0040184 NCIT:C12800 Wikipedia:Tibia EMAPA:19142 FMA:24476 BTO:0001252 GAID:204 MESH:D013977" "A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals." "MeSH:D048090 MESH:D048090 MONDO:0005678 DOID:3732" "Quantification of the amount of chromogranin-A measurement in a sample." "PMID:36168886" "A procedure to replace diseased bone marrow with transplanted healthy bone marrow cells." "PMID:35379913 NCIT:C15194" @@ -22798,7 +22798,7 @@ "A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." "MeSH:D007119" "The amount of a switch-associated protein 70 when measured in blood serum." - "Apocrine sweat glands are sweat glands composed of a coiled secretory portion located at the junction of the dermis and subcutaneous fat, from which a straight portion inserts and secretes into the infundibular portion of the hair follicle. The ducts of apocrine glands open into the canals of hair follicles. The stimulus for the secretion of apocrine sweat glands is adrenaline, which is a hormone carried in the blood[WP]." "FMA:59155 MESH:D001050 SCTID:399916008 EMAPA:37426 Wikipedia:Apocrine_sweat_gland BTO:0001458 UMLS:C0930083 NCIT:C32132" + "Apocrine sweat glands are sweat glands composed of a coiled secretory portion located at the junction of the dermis and subcutaneous fat, from which a straight portion inserts and secretes into the infundibular portion of the hair follicle. The ducts of apocrine glands open into the canals of hair follicles. The stimulus for the secretion of apocrine sweat glands is adrenaline, which is a hormone carried in the blood[WP]." "FMA:59155 MESH:D001050 EMAPA:37426 SCTID:399916008 Wikipedia:Apocrine_sweat_gland BTO:0001458 UMLS:C0930083 NCIT:C32132" "a disease that occurs in the parathyroid" "DOID:11201 SCTID:73132005 MONDO:0001223 MEDGEN:893009 ICD9:252 NCIT:C26844 UMLS:C4025822 ICD9:252.8 ICD9:252.9 MESH:D010279" "The length of the cDNA read." @@ -23494,7 +23494,7 @@ "A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age." "MEDGEN:366028 GARD:671 MESH:C536361 OMIM:105835 SCTID:720984008 Orphanet:63442 MedDRA:10066017 UMLS:C1739384" "Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia." "MEDGEN:1718224 GARD:16524 OMIM:136500 Orphanet:79133 UMLS:C5235196" - "A floor plate that is part of a neural tube [Automatically generated definition]." "ZFA:0001434 EHDAA2:0001256 EHDAA:2871 EHDAA:910 TAO:0001434 VHOG:0000300 EFO:0003688 EMAPA:16165" + "A floor plate that is part of a neural tube [Automatically generated definition]." "ZFA:0001434 EHDAA2:0001256 EHDAA:2871 TAO:0001434 EHDAA:910 VHOG:0000300 EFO:0003688 EMAPA:16165" "MeSH:D055685" @@ -24303,7 +24303,7 @@ "Catalysis of the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate." "EC:3.1.6.12 Reactome:R-HSA-1606789 Reactome:R-HSA-9036065 Wikipedia:Arylsulfatase_B Reactome:R-HSA-2282889 Reactome:R-HSA-1793207 MetaCyc:3.1.6.12-RXN" "A carcinoma that arises from glandular epithelial cells of the gall bladder." "UMLS:C0279651 NCIT:C9166 EFO:1000262 DOID:3500 MEDGEN:76009 MONDO:0006215" - "A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." "MONDO:0006108 UMLS:C0008309 NCIT:C2942 MESH:D002759 ICDO:8160/0 SCTID:424091006 MEDGEN:918 DOID:5381 EFO:1000123" + "A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." "MONDO:0006108 UMLS:C0008309 NCIT:C2942 MESH:D002759 ICDO:8160/0 SCTID:424091006 DOID:5381 MEDGEN:918 EFO:1000123" "The Illumina HiSeq 3000 is a high-throughput sequencing machine developed by Illumina." "OMIM:612394" "The amount of a Ras-related protein Rab-11B when measured in blood serum." @@ -24349,7 +24349,7 @@ "The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates." "MA:0000335 EV:0100079 SAEL:22 MAP:0000001 BTO:0000269 ZFA:0000706 FMA:14543 EMAPA:18939 XAO:0000243" "The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." "MedDRA:10080703 NCIt:C51948 SNOMEDCT:767002 MeSH:D007958" "The amount of a eukaryotic translation initiation factor 3 subunit B when measured in blood serum." - "The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule." "UMLS:C1514580 ZFA:0005290 EMAPA:28287 TAO:0005290 Wikipedia:Proximal_convoluted_tubule EV:0100388 CALOHA:TS-2198 SCTID:362220008 MA:0001669 NCIT:C33417 FMA:17693" + "The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule." "ZFA:0005290 EMAPA:28287 TAO:0005290 Wikipedia:Proximal_convoluted_tubule EV:0100388 CALOHA:TS-2198 SCTID:362220008 MA:0001669 NCIT:C33417 FMA:17693 UMLS:C1514580" "Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases." "Autosomal dominant form of rhegmatogenous retinal detachment." "Orphanet:209867 MEDGEN:322821 GARD:17104 UMLS:C1836081" "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia." "GARD:12314 UMLS:C3279990 Orphanet:391487 DOID:0111946 MEDGEN:481620 OMIM:614162" @@ -25406,7 +25406,7 @@ "The treatment involving day light as the light of the sun or the artificial light in a growth chamber." - "An inherited susceptibility or predisposition to developing leukemia, acute myeloid." "UMLS:C3275959 MEDGEN:477590" + "An inherited susceptibility or predisposition to developing leukemia, acute myeloid." "MEDGEN:477590 UMLS:C3275959" "Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7." "OMIMPS:203100 Orphanet:55 SCTID:63844009 ICD9:270.2 UMLS:C0078918 MEDGEN:36250 NCIT:C84941 MESH:D016115 DOID:0050632 NANDO:1200637 icd11.foundation:1189424097 NANDO:2200986 NANDO:1200641 GARD:10958 NORD:1522" "Quantification of the amount of 3-carboxy-4-methyl-5-propyl-2-furanpropanoate CMPF in a sample." "PMID:24816252" @@ -25551,7 +25551,7 @@ "Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." "MESH:C566826 Orphanet:60015 MEDGEN:526951 OMIMPS:168500 GARD:16662 HP:0002697 SCTID:718099006 DOID:0060285 UMLS:C0222706" - "An amino cyclitol glycoside that is kanamycin A acylated at the N-1 position by a 4-amino-2-hydroxybutyryl group." "SNOMEDCT:387266001 PMID:19495517 NCIt:C61615 Wikipedia:Amikacin PMID:15305513 PMID:8622103 KEGG:D02543 LINCS:LSM-5935 HMDB:HMDB0014622 PMID:11744283 PMID:8622117 PMID:25296102 MeSH:D000583 KEGG:C06820 PMID:20195673 PMID:25630642 Beilstein:5915117 DrugBank:DB00479 PMID:9327246 PMID:17365906 Patent:US3781268 PMID:25327505 MetaCyc:CPD-14197 PMID:19752274 Patent:DE2234315 Drug_Central:157 SNOMEDCT:48836000 Reaxys:5915117 CAS:37517-28-5 PMID:25339395" + "An amino cyclitol glycoside that is kanamycin A acylated at the N-1 position by a 4-amino-2-hydroxybutyryl group." "SNOMEDCT:387266001 PMID:19495517 NCIt:C61615 Wikipedia:Amikacin PMID:15305513 PMID:8622103 KEGG:D02543 LINCS:LSM-5935 HMDB:HMDB0014622 PMID:11744283 PMID:8622117 PMID:25296102 MeSH:D000583 PMID:20195673 KEGG:C06820 PMID:25630642 Beilstein:5915117 DrugBank:DB00479 PMID:9327246 PMID:17365906 Patent:US3781268 PMID:25327505 MetaCyc:CPD-14197 PMID:19752274 Patent:DE2234315 Drug_Central:157 SNOMEDCT:48836000 Reaxys:5915117 CAS:37517-28-5 PMID:25339395" "Quantification of triacylglycerol 49:1 in a sample." "PMID:35668104" "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." "DOID:0050718 MONDO:0005528" "An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome." "OMIMPS:610448 GARD:17874 Orphanet:481662 UMLS:C5688224 MEDGEN:1807766" @@ -25982,7 +25982,7 @@ "A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation." "NCIt:C12520 MeSH:D001792 CALOHA:TS-0803 FMA:62851 BTO:0000132 SNOMEDCT:16378004" "A disease that has its basis in the disruption of cardiovascular system development." "UMLS:C3665496 ICD9:747.89 MEDGEN:777113 SCTID:9904008 NCIT:C35729 ICD9:747.9" "An embryo root (PO:0000045) formed within the scutellar node (PO:0004708) of the plant embryo (PO:0009009) in some monocotyledonous plants." - "A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." "UMLS:C3814534 ICDO:9187/3 UMLS:C1266163 NCIT:C6474 EFO:1000327 MONDO:0006271 MEDGEN:818980 ONCOTREE:LGCOS" + "A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." "UMLS:C3814534 ICDO:9187/3 NCIT:C6474 UMLS:C1266163 EFO:1000327 MONDO:0006271 MEDGEN:818980 ONCOTREE:LGCOS" "X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28." "SCTID:718718009 OMIM:300843 GARD:16782 MEDGEN:463611 Orphanet:90001 UMLS:C3159311 MESH:C564092" @@ -26547,7 +26547,7 @@ "The amount of a 5'-3' exonuclease PLD3 when measured in blood serum." "Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved." "GARD:10877 UMLS:C0263628 MedDRA:10059364 Orphanet:53715 MEDGEN:452340 MONDO:0018891" "A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta." "UMLS:C4025218" - "An ergoline alkaloid that is the N-benzyloxycarbonyl derivative of lysergamine. A 5-HT2 antagonist. Also 5-HT1 antagonist and 5-HT1D ligand. Has moderate affinity for 5-HT6 and high affinity for 5-HT7." "CiteXplore:20377624 KEGG DRUG:D07218 PMID:20845263 PMID:19539656 Wikipedia:Metergoline PMID:21600959 ChemIDplus:17692-51-2 PMID:19945477 CiteXplore:19945477 PMID:18996971 PMID:20451398 NIST Chemistry WebBook:17692-51-2 PMID:22218419 PMID:19484723 CiteXplore:21600959 PMID:19538518 CiteXplore:18996971 LINCS:LSM-3265 PMID:21354537 PMID:24134630 CiteXplore:19484723 CiteXplore:22218419 ChEMBL:121938 PMID:19632276 CiteXplore:19539656 PMID:21880033 KEGG:D07218 Drug_Central:1723 KEGG DRUG:17692-51-2 CiteXplore:19538518 PMID:20377624 CiteXplore:21354537 CiteXplore:21475142 PMID:21475142 CiteXplore:21880033 CiteXplore:20451398 CiteXplore:19509219 MeSH:D008711 CAS:17692-51-2 NCIt:C91039 PMID:19509219 Reaxys:5362415 CiteXplore:19632276 CiteXplore:20845263" + "An ergoline alkaloid that is the N-benzyloxycarbonyl derivative of lysergamine. A 5-HT2 antagonist. Also 5-HT1 antagonist and 5-HT1D ligand. Has moderate affinity for 5-HT6 and high affinity for 5-HT7." "CiteXplore:20377624 KEGG DRUG:D07218 PMID:20845263 PMID:19539656 Wikipedia:Metergoline PMID:21600959 ChemIDplus:17692-51-2 PMID:19945477 CiteXplore:19945477 PMID:18996971 PMID:20451398 NIST Chemistry WebBook:17692-51-2 PMID:22218419 PMID:19484723 CiteXplore:21600959 PMID:19538518 CiteXplore:18996971 LINCS:LSM-3265 PMID:21354537 PMID:24134630 CiteXplore:19484723 CiteXplore:22218419 ChEMBL:121938 PMID:19632276 CiteXplore:19539656 PMID:21880033 KEGG:D07218 Drug_Central:1723 KEGG DRUG:17692-51-2 CiteXplore:19538518 PMID:20377624 CiteXplore:21354537 CiteXplore:21475142 PMID:21475142 CiteXplore:21880033 CiteXplore:20451398 CiteXplore:19509219 MeSH:D008711 NCIt:C91039 CAS:17692-51-2 PMID:19509219 Reaxys:5362415 CiteXplore:19632276 CiteXplore:20845263" "Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life." "MEDGEN:141589 ICD9:748.5 GARD:16591 Orphanet:2257 OMIM:265430 SCTID:277656005 UMLS:C0456891 icd11.foundation:1778475393" "icd11.foundation:274545745 GARD:20820 UMLS:C5679673 Orphanet:261992 MESH:C535370 MEDGEN:1826023" @@ -26836,7 +26836,7 @@ "A member of the class of acrylamides that results from the formal condensation of acrylic acid with ammonia." "Gmelin:81842 PMID:19846048 Patent:US2535245 PMID:17032038 Wikipedia:Acrylamide SNOMEDCT:6983000 PMID:17720246 Reaxys:605349 PMID:19022940 MeSH:D020106 UM-BBD_compID:c0149 PMID:22784192 KEGG:C01659 PMID:10719038 PMID:17234719 PMID:17558658 PMID:18469268 CAS:79-06-1 HMDB:HMDB0004296 PMID:12166997 PMID:15240786 PMID:15901921 PMID:17484107 Beilstein:605349 PMID:22136129 PMID:7767980 NCIt:C44329" "The amount of a calcyclin-binding protein when measured in blood serum." "The soft tissue surrounding the neck of individual teeth as well as covering the alveolar bone. The tissue is fibrous and continuous with the periodontal ligament and mucosal covering." "NCIt:C32677 FMA:59762 BTO:0000519" - "Tumors or cancer of the bronchi." "MONDO:0002807 MESH:D001984 DOID:3906 MEDGEN:2735 UMLS:C0006264 HP:0030077 NANDO:2200081 MedDRA:10052245 MeSH:D001984 SCTID:126705004" + "Tumors or cancer of the bronchi." "MONDO:0002807 MESH:D001984 DOID:3906 MEDGEN:2735 UMLS:C0006264 HP:0030077 MedDRA:10052245 NANDO:2200081 MeSH:D001984 SCTID:126705004" "The ventral grey column of the spinal cord[MP]. The neurons of the ventral region of the mature spinal cord participate in motor output[GO]." "UMLS:C0228590 EMAPA:18575 BAMS:VH FMA:256541 BTO:0005151 MA:0001134 UMLS:C0228569 Wikipedia:Anterior_horn_of_spinal_cord EMAPA:35794 NCIT:C33859 TAO:0000702 BIRNLEX:2668 SCTID:279443000 neuronames:1751 VHOG:0001288 ZFA:0000702" "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" @@ -27090,7 +27090,7 @@ "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." "MEDGEN:854855 Orphanet:324708 ICD10EXP:I68.0* UMLS:C3888309 GARD:17490 ICD10EXP:E85.4+" "Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities." "SNOMEDCT_US:271700006 UMLS:C0008489 UMLS:C4020858" - "A non-syndromic amelia that involves the forelimb." "SCTID:205306000 MEDGEN:539335 UMLS:C0265570 HP:0009812 GARD:21190 Orphanet:294967 icd11.foundation:565435388" + "A non-syndromic amelia that involves the forelimb." "icd11.foundation:565435388 SCTID:205306000 MEDGEN:539335 UMLS:C0265570 HP:0009812 GARD:21190 Orphanet:294967" "A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." "SCTID:719166003 GARD:10611 Orphanet:156728 MEDGEN:325181 UMLS:C1837481 OMIM:608728 MESH:C563869" "Acute form of epiglottitis." "MEDGEN:510093 UMLS:C0155814 SCTID:29608009" "The parent of the class of 2-acetamidofluorenes, being an ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2. It is a carcinogenic and mutagenic derivative of fluorene." "KEGG:C02778 Reaxys:2807677 CAS:53-96-3 PMID:21668357 Beilstein:2807677 NCIt:C29791 PMID:17434228 PMID:23536516 MeSH:D015073 KEGG COMPOUND:53-96-3 \"CAS Registry Number\" Reaxys:2807677 \"Reaxys Registry Number\" PMID:22514719 LINCS:LSM-37153 PDBeChem:AFF PMID:15380103 Beilstein:2807677 \"Beilstein Registry Number\" Wikipedia:2-Acetylaminofluorene \"Wikipedia\" PMID:24021430 PMID:21417629 NIST Chemistry WebBook:53-96-3 \"CAS Registry Number\" Wikipedia:2-Acetylaminofluorene ChemIDplus:53-96-3 \"CAS Registry Number\" KEGG COMPOUND:C02778 \"KEGG COMPOUND\" PMID:7151044" @@ -27363,7 +27363,7 @@ "Quantification of bisecting N-acetyl glucosamine-containing N-glycans of IgG in a biological sample, typically serum" "PMID:28878392" "Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not." "galen:BodyFluid FMA:280556 EMAPA:37441 Wikipedia:Body_fluid MESH:D001826 GAID:266 BIRNLEX:20" - "Subdivision of urinary system which consists of the kidney and the ureters." "FMA:45658 NCIT:C61107 galen:UpperUrinaryTract SCTID:181413006" + "Subdivision of urinary system which consists of the kidney and the ureters." "NCIT:C61107 galen:UpperUrinaryTract SCTID:181413006 FMA:45658" "TUBO cells are a cloned line established in vitro from a BALB-neuT mouse mammary carcinoma. They display membrane class I H-2dMHC glycoproteins and rp185neu proteins. In BALB/c mice, r-p185 is a xenogeneic Ag that differs from mouse rp185 in <6% of the amino residues. Despite these differences, a challenge of 1 x 105 TUBO cells grew progressively in all BALB/c mice and gave rise to lobular carcinomas histologically similar to those that appear in BALB-neuT-transgenic mice. The reactive cell infiltrate associated with TUBO cell growth was marginal. No anti-TUBO cell CTL, nor IFN-gama, nor GM-CSF release were found when Spc from BALB/c mice bearing 3- or 10-mm mean TUBO tumors were tested immediately or after 6 days in in vitro restimulation with TUBO cells. Moreover, no anti-rp185 Ab were detected in the sera of tumor bearing mice. Despite their high membrane expression of the xenogeneic rp185, growing TUBO cells appear to trigger a marginal or no immune reaction in BALB/c mice." "ICD10:Q93.5" "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene." "MEDGEN:934657 UMLS:C4310690 DOID:0080337 OMIM:617156" @@ -27928,7 +27928,7 @@ "UMLS:C0268296 OMIM:264300 ICD10:E29.1" "A hydrochloride salt that is obtained by reaction of vanoxerine with two equivalents of hydrogen chloride. Potent, competitive inhibitor of dopamine uptake (Ki = 1 nM for inhibition of striatal dopamine uptake). Has > 100-fold lower affinity for the noradrenalin and 5-HT uptake carriers. Also a potent sigma ligand (IC50 = 48 nM). Centrally active following systemic administration." "CiteXplore:8884229 PMID:8884229 PMID:10939577 CAS:67469-78-7 PMID:10640288 Reaxys:5696321 PMID:16014753 PMID:7700571 CiteXplore:10939577 CiteXplore:7700571 ChEMBL:646658 CiteXplore:16014753 ChemIDplus:67469-78-7 CiteXplore:10640288" "Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness." "DOID:0080160 UMLS:C0206178 MeSH:D017726 GARD:9531 MONDO:0000878 MedDRA:10011835 NCIT:C50521 MEDGEN:61532 SNOMEDCT:22455005 MESH:D017726 SCTID:22455005" - "An organ thought to supplement the olfactory system in receiving pheromonic communication. The sensory part of the organ is in two long, thin sacs, situated on either side of the nasal septum at its base." "EFO:0001934 XAO:0000272 MA:0000289 EHDAA:7865 neuronames:1566 EMAPA:17612 MESH:D019147 Wikipedia:Vomeronasal_organ EHDAA2:0002211 AAO:0000997 FMA:77280 GAID:354 BTO:0002608 SCTID:361346007 VHOG:0000665" + "An organ thought to supplement the olfactory system in receiving pheromonic communication. The sensory part of the organ is in two long, thin sacs, situated on either side of the nasal septum at its base." "EFO:0001934 XAO:0000272 MA:0000289 EHDAA:7865 neuronames:1566 EMAPA:17612 MESH:D019147 EHDAA2:0002211 Wikipedia:Vomeronasal_organ AAO:0000997 FMA:77280 GAID:354 BTO:0002608 SCTID:361346007 VHOG:0000665" "A nutrient is a food component that an organism uses to survive and grow." "MO:867 SNOMEDCT:226355009 NCIt:C1814 NCIt:C68603" "commonly referred to as hives, is a kind of skin rash notable for pale red, raised, itchy bumps. Hives may cause a burning or stinging sensation. Histamine and other proinflammatory substances are released from mast cells in the skin and tissues in response to the binding of allergen-bound IgE antibodies to high-affinity cell surface receptors. Basophils and other inflammatory cells are also seen to release histamine and other mediators, and are thought to play an important role, especially in chronic urticarial diseases." "SCTID:40178009 UMLS:C0149526 MEDGEN:508394 DOID:10612 ICD10CM:L50.0 MONDO:0006526 Wikipedia:Urticaria#Allergic_urticaria ICD9:708.0 MedDRA:10001734" @@ -29201,7 +29201,7 @@ "OMIM:610199" "The amount of a EKC/KEOPS complex subunit TPRKB when measured in blood serum." "An astrocytoma that arises from the visual pathway and occurs during childhood." "UMLS:C1333014 NCIT:C7534 MEDGEN:232072 DOID:6575" - "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." "GARD:12356 DOID:0070236 UMLS:C3810012 MEDGEN:816342 OMIM:615582 MONDO:0014262" + "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." "GARD:12356 DOID:0070236 UMLS:C3810012 OMIM:615582 MEDGEN:816342 MONDO:0014262" "Poisoning due to organophosphates (a class of organophosphorus compounds also known as phosphate esters, or OPEs). Organophosphates are used as insecticides, medications, and nerve agents. Symptoms include increased saliva and tear production, diarrhea, vomiting, small pupils, sweating, muscle tremors, and confusion." "MedDRA:10078290 Wikipedia:Organophosphate_poisoning MeSH:68062025" "OMIM:614209 OMIM:249000 OMIM:607361 ICD10:Q61.9 OMIM:603194 OMIM:611134 OMIM:615397 OMIM:613885 OMIM:614175 OMIM:612284 UMLS:C0265215 OMIM:611561 OMIM:616258 OMIM:617562" @@ -29391,7 +29391,7 @@ "The amount of a growth factor receptor-bound protein 14 when measured in blood serum." "Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment." "DECIPHER:59 SCTID:448054001 OMIM:169500 DOID:0060785 GARD:10587 MEDGEN:356995 MESH:C566813 UMLS:C1868512 Orphanet:99027" "Quantification of the frequency which an individual omits to eat breakfast. Breakfast skipping is often considered as a sub-clinical eating disorder." "PMID:31190057" - "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." "MEDGEN:18377 ICD10:I31 UMLS:C0031046 ICD10:I30 DOID:1787 MONDO:0005904 SCTID:3238004 NCIT:C34915 Orphanet:58208 MESH:D010493 MedDRA:10034484 HP:0001701 MeSH:D010493" + "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." "MEDGEN:18377 ICD10:I31 UMLS:C0031046 MONDO:0005904 ICD10:I30 DOID:1787 SCTID:3238004 NCIT:C34915 Orphanet:58208 MESH:D010493 MedDRA:10034484 HP:0001701 MeSH:D010493" "Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." "MONDO:0006809 ICD9:434.1 DOID:4372 MESH:D020766 ICD9:434.10 MeSH:D020766 UMLS:C0752140 MEDGEN:155710 SCTID:75543006" "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." "NANDO:1200857 UMLS:C0000744 MEDGEN:1253 MESH:D000012 NCIT:C84525 NORD:703 NANDO:2200604 OMIM:200100 DOID:1386 Orphanet:14 SCTID:190787008 GARD:5" @@ -31016,7 +31016,7 @@ "The amount of a peptidyl-prolyl cis-trans isomerase FKBP3 when measured in blood serum." "Gaucher's disease" "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." "ICD10:M93.2 OMIM:165700" - "The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]." "FMA:23466 SCTID:181948009 VSAO:0005013 UMLS:C0041600 MESH:D014457 GAID:188 AAO:0000789 EMAPA:19104 Wikipedia:Ulna MA:0001358 galen:Ulna NCIT:C12809" + "The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]." "SCTID:181948009 FMA:23466 VSAO:0005013 UMLS:C0041600 GAID:188 AAO:0000789 EMAPA:19104 MESH:D014457 Wikipedia:Ulna MA:0001358 galen:Ulna NCIT:C12809" "A neoplasm (disease) that involves the gall bladder." "MONDO:0021253 MeSH:D005706 MESH:D005706 NCIT:C3048 MEDGEN:42134 UMLS:C0016978" @@ -31034,7 +31034,7 @@ "The determination of the amount of lymphocyte activation gene 3 protein in a sample" "PMID:28240269" "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria." "MESH:D045825 MeSH:D045825 UMLS:C1258222 MEDGEN:263530 DOID:563 MONDO:0006925" "An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." "NCIt:C6416" - "Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MEDGEN:101751 MONDO:0006031 NCIT:C35151 ICD9:473.8 PMID:25838086" + "Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MONDO:0006031 MEDGEN:101751 NCIT:C35151 ICD9:473.8 PMID:25838086" "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." "MEDGEN:1647210 OMIMPS:208085 SCTID:720513002 DOID:0050763 MESH:C535382 Orphanet:2697 GARD:794 UMLS:C4551984" "A specialized examination or inspection meant to identifying an increased risk of neoplasm." @@ -31247,7 +31247,7 @@ "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis." "MEDGEN:1684656 UMLS:C1405301 DOID:0050515" "The age at which type 2 diabetes mellitus manifestations first appear." "An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers." "NORD:1090 MedDRA:10014663 NCIT:C98922 MEDGEN:4041 NANDO:2200235 MESH:D004695 ICD9:425.3 UMLS:C0014117 OMIM:226000 ICD10CM:I42.4 MeSH:D004695 SCTID:65457005 GARD:6336 DOID:12929 MONDO:0009169 Orphanet:2022 NANDO:2100060 icd11.foundation:1971033419" - "A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion." "ICD10CM:D02.1 NCIT:C3639 UMLS:C0154070 MEDGEN:57816 ICD9:231.1 SCTID:92772005 DOID:8802" + "A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion." "ICD10CM:D02.1 NCIT:C3639 UMLS:C0154070 ICD9:231.1 MEDGEN:57816 SCTID:92772005 DOID:8802" "Tumors of the SALIVARY GLANDS." "ICD10:D11 MedDRA:10061497 DOID:8850 MeSH:D012468 NCIt:C3361" "A primary or metastatic malignant neoplasm involving the lip." "EFO:1001019 ICD9:140.6 ICD10:C00 ICD9:140 NCIT:C7485 MEDGEN:57548 DOID:8564 MESH:D008048 SCTID:187622006 ICD10:C00.9 ICD9:140.8 UMLS:C0153340 ICD10CM:C00 ICD9:140.5 MedDRA:10007089 MONDO:0006834" "The amount of a staphylococcal nuclease domain-containing protein 1 when measured in blood serum." @@ -31502,7 +31502,7 @@ "The amount of a UL-16 binding protein 5 when measured in blood serum." "Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" "ICD9:377.01 SCTID:73221001 SCTID:423341008 MESH:D010211 ICD9:377.0 ICD9:377.00 ICD9:377.31 ICD9:362.83 MeSH:D010211 SCTID:6141006 ICD10:H46.0 DOID:10175 MedDRA:10030948 SNOMEDCT:73221001 MONDO:0006879" "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" - "The middle ear is the air-filled cavity within the skull of vertebrates that lies between the outer ear and the inner ear. It is linked to the pharynx (and therefore to outside air) via the Eustachian tube and in mammals contains the three ear ossicles, which transmit auditory vibrations from the outer ear (via the tympanum) to the inner ear (via the oval window)[GO]." "SCTID:181185000 EV:0100357 VHOG:0000312 EHDAA2:0001181 EHDAA:5693 BTO:0002099 CALOHA:TS-2233 NCIT:C12274 AAO:0011065 Wikipedia:Middle_ear MIAA:0000146 MAT:0000146 XAO:0000191 UMLS:C1268972 FMA:56513 MESH:D004432 UMLS:C0013455 EMAPA:17000 MA:0000253 GAID:165 BIRNLEX:1695" + "The middle ear is the air-filled cavity within the skull of vertebrates that lies between the outer ear and the inner ear. It is linked to the pharynx (and therefore to outside air) via the Eustachian tube and in mammals contains the three ear ossicles, which transmit auditory vibrations from the outer ear (via the tympanum) to the inner ear (via the oval window)[GO]." "SCTID:181185000 EV:0100357 VHOG:0000312 EHDAA:5693 EHDAA2:0001181 BTO:0002099 CALOHA:TS-2233 NCIT:C12274 AAO:0011065 Wikipedia:Middle_ear MIAA:0000146 MAT:0000146 XAO:0000191 UMLS:C1268972 FMA:56513 MESH:D004432 UMLS:C0013455 EMAPA:17000 MA:0000253 GAID:165 BIRNLEX:1695" "A carcinoma in situ involving a lung." "DOID:8800 ICD9:231.2 SCTID:92649001 MEDGEN:146894 UMLS:C0685053 NCIT:C27467" "MEDGEN:1824079 UMLS:C5774306 OMIM:620233" @@ -32160,7 +32160,7 @@ "A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." "DOID:3861 NCIT:C3706 ICDO:9472/3 MEDGEN:104731 EFO:1000368 MONDO:0006300 UMLS:C0205833 ONCOTREE:MMB" "Quantification of the amount of X-12771 in a sample." "PMID:24816252" - "NCIt:C117189 MCC:0000426 RRID:CVCL_0526 CLO:0009043 BTO:0002131" + "NCIt:C117189 RRID:CVCL_0526 MCC:0000426 CLO:0009043 BTO:0002131" "The amount of a normal mucosa of esophagus-specific gene 1 protein when measured in blood serum." "Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum." "UMLS:C2700265 MEDGEN:398443 MESH:C536463 GARD:5520 ICD10CM:E70.3 Orphanet:895 NCIT:C75009" @@ -33916,7 +33916,7 @@ "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis." "DC:0000445 ICD10:M11.2 GARD:0010877 MedDRA:10059364 Orphanet:53715" "Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles." "SNOMEDCT_US:270492004 UMLS:C0085614" "An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." "SCTID:31712002 NANDO:1200439 ICD9:571.6 NCIT:C27167 MEDGEN:3035 UMLS:C0008312 GARD:7459 Orphanet:186 DOID:12236 SNOMEDCT:31712002 MedDRA:10019137 ICD10:K74.3 OMIMPS:109720 NCIt:C27167 MESH:D008105 MONDO:0005388 NORD:1604 MedDRA:10004661 icd11.foundation:649193479 MedDRA:10036680" - "An epithelial tube that is part of the nephron, the functional part of the kidney." "NCIT:C49274 CALOHA:TS-1262 TAO:0001287 FMA:15627 EMAPA:27782 UMLS:C0022674 EV:0100387 MA:0000377 MESH:D007684 GAID:433 ZFA:0001287 BTO:0000343 Wikipedia:Renal_tubule SCTID:361332007 EFO:0003666" + "An epithelial tube that is part of the nephron, the functional part of the kidney." "NCIT:C49274 CALOHA:TS-1262 FMA:15627 TAO:0001287 EMAPA:27782 UMLS:C0022674 EV:0100387 MA:0000377 MESH:D007684 GAID:433 ZFA:0001287 BTO:0000343 Wikipedia:Renal_tubule SCTID:361332007 EFO:0003666" "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA48 is an autosomal dominant neurodegenerative disease characterized by onset in mid-adulthood of progressive cognitive decline and gait ataxia, and vermian and hemispheric cerebellar atrophy." "OMIM:618093" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a combination of chemotherapeutic agents. Chemotherapeutic drugs are often administered in combination in order to maximise treatment effect." @@ -34329,7 +34329,7 @@ "A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid." "KEGG:C00059 PMID:14597181 PMID:15984785 CAS:14808-79-8 Wikipedia:Sulfate PMID:19812358 PMID:18815700 PMID:16534979 Beilstein:3648446 PMID:17420092 PMID:18846414 KEGG:D05963 PDBeChem:SO4 PMID:16348007 PMID:17439666 PMID:17120760 MetaCyc:SULFATE PMID:16186560 HMDB:HMDB0001448 PMID:15093386 PMID:19244483 PMID:12668033 PMID:30398859 PMID:19628332 PMID:16656509 PMID:16483812 PMID:11798107 PMID:19544990 PMID:16345535 PMID:18398178 PMID:19047345 Reaxys:3648446 PMID:16742518 Gmelin:2120 PMID:17709180 PMID:16742508 PMID:11200094 PMID:16347366 PMID:11581495 PMID:12166931 PMID:11452993" "The number of cell passages if the organism or organism part that is cultured is unicellular or a cell culture; otherwise the number of generations." "NCIt:C88214 MO:43 NCIt:C48151" "The group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve)." "EHDAA:5567 Wikipedia:Geniculate_ganglion EHDAA:6644 NCIT:C12721 EHDAA2:0004623 FMA:53414 GAID:718 EFO:0003669 MA:0001076 SCTID:279076005 BAMS:GgVII ZFA:0001291 EHDAA2:0000491 MESH:D005830 TAO:0001291 EMAPA:17569 VHOG:0000707 neuronames:1535 UMLS:C0017406" - "Chronic form of sinusitis." "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MEDGEN:101751 MONDO:0006031 NCIT:C35151 ICD9:473.8 PMID:25838086" + "Chronic form of sinusitis." "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MONDO:0006031 MEDGEN:101751 NCIT:C35151 ICD9:473.8 PMID:25838086" "Quantification of cholesteryl ester 24:1 in a sample." "PMID:35668104" "Quantification of the amount of X-10346 in a sample." "PMID:24816252" @@ -35232,7 +35232,7 @@ "Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia." "NCIT:C54039 Orphanet:251867 MEDGEN:353541 UMLS:C1707400 GARD:17216 SCTID:699704002" "Imaging results obtained through a radiology procedure." "NCIt:C35869" "A dipeptide formed from L-leucine and L-glutamic acid residues." "HMDB:HMDB0028928 Reaxys:1729058" - "A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin." "MeSH:D004482 DOID:3296 MESH:D004482 MONDO:0005809" + "A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin." "DOID:3296 MeSH:D004482 MESH:D004482 MONDO:0005809" "An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash" "MEDGEN:96911 NCIm:C0483368 MedlinePlus: 001381 SCTID:85708001 MONDO:0005118 GARD:71 ICD9:082.49 UMLS:C0483368 DOID:0050025" "A g1e er4 is a GATA-1-null erythroblast." "PMID:12832487" "Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene." "MEDGEN:863744 GARD:16062 OMIM:616138 UMLS:C4015307" @@ -36513,7 +36513,7 @@ "Any measurable or observable characteristic related to the size of the antitragus, a feature of human ear anatomy. It is a small tubercle that points anteriorly. It is separated from the tragus by the intertragic notch." "Controlled terms for descriptors of types of array substrates." "A deviation from the normal odor of the vaginal discharge." - "human cervical epidermoid carcinoma cell line from a 40 year old female Caucasian patient (ATCC CRL-1550)" "RRID:CVCL_1100 CLO:0050930 CLO:0002201 ATCC:CRL-1550 CLO:0002165 BTO:0003109" + "human cervical epidermoid carcinoma cell line from a 40 year old female Caucasian patient (ATCC CRL-1550)" "RRID:CVCL_1100 CLO:0050930 ATCC:CRL-1550 CLO:0002201 CLO:0002165 BTO:0003109" "Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene." "OMIM:615438 Orphanet:370088 MEDGEN:815852 DOID:0080717 UMLS:C3809522 GARD:13114" "This cell line refers to a model cell line derived from muscle cells" "CLO:0000076" @@ -36556,7 +36556,7 @@ "Quantification of interleukin-1 receptor antagonist protein in a sample." "PMID:29875488" "NCIt:C73970" - "A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma." "NCIt:C3285 SCTID:4210003 MedDRA:10030043 MESH:D009798 DOID:9282 MONDO:0006875 UMLS:C0028840 SNOMEDCT:4210003 ICD9:365.04 MEDGEN:10423 MeSH:D009798" + "A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma." "NCIt:C3285 SCTID:4210003 MESH:D009798 MedDRA:10030043 DOID:9282 MONDO:0006875 UMLS:C0028840 SNOMEDCT:4210003 ICD9:365.04 MEDGEN:10423 MeSH:D009798" "RNA hybrid and individual-nucleotide resolution ultraviolet crosslinking and immunoprecipitation (hiCLIP)" "PMID:25799984" "OMIM:615139" @@ -36715,7 +36715,7 @@ "Quantification of some aspect of the use of antidepressant drugs." "PMID:31015401" "The amount of a dual specificity protein phosphatase 15 when measured in blood serum." "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." "UMLS:C1835884" - "A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." "MONDO:0005542 UMLS:C0948089 MeSH:D054058 SNOMEDCT:394659003 MESH:D054058 MEDGEN:215295 NCIt:C53652 SCTID:394659003 MedDRA:10051592 NCIT:C53652" + "A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." "MONDO:0005542 UMLS:C0948089 MeSH:D054058 SNOMEDCT:394659003 MESH:D054058 MEDGEN:215295 NCIt:C53652 SCTID:394659003 NCIT:C53652 MedDRA:10051592" "A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins." "MESH:D005892 MeSH:D005892 SCTID:186963008 SNOMEDCT:707792000 MONDO:0006865 MEDGEN:42219 UMLS:C0017575 NCIT:C34637 DOID:13924 ICD9:101 NCIt:C34637" "quantification of the amount of kallistatin in a sample" @@ -36950,7 +36950,7 @@ "human herpesvirus 7 seropositivity is the result of a measurement of circulating human herpesvirus 7 specific antibodies" "PMID:33204752" "A benign adipose tissue neoplasm of the external ear." "MEDGEN:91130 ICD9:215.0 SCTID:188988008 UMLS:C0347423 NCIT:C4618 DOID:10203" "Quantification of suberic acid levels in a sample." "PMID:23823483" - "The duct of a salivary gland." "Wikipedia:Salivary_duct EMAPA:35750 NCIT:C32486 MA:0001586 GAID:939 BTO:0005115 SCTID:181238004 FMA:59908 MESH:D018987" + "The duct of a salivary gland." "Wikipedia:Salivary_duct EMAPA:35750 NCIT:C32486 MA:0001586 GAID:939 SCTID:181238004 BTO:0005115 FMA:59908 MESH:D018987" "Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions." "OMIM:605946 UMLS:C1853825 MEDGEN:381277 GARD:16738 SCTID:717221005 Orphanet:85188 MESH:C565271" "Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)" "DOID:12052 MESH:D016919 MedDRA:10011487 DOID:0080159 MeSH:D016919 NCIT:C174113 MONDO:0005723 ICD9:321.0 SCTID:14232007 MEDGEN:88410 UMLS:C0085436" "A Mus musculus individual that is a substrain of C57BL/6J (mother) and CAST/EiJ (father)." "https://orcid.org/0000-0002-3163-0115 PMID:27668657" @@ -37045,7 +37045,7 @@ "NANDO:2201209 GARD:20508 Orphanet:216986 MEDGEN:1826101 UMLS:C5680869 NANDO:1200065" "Quantification of the amount of X-11530 in a sample." "PMID:24816252" "An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions." "DOID:11340 MEDGEN:163415 MeSH:D016720 UMLS:C0851886 MESH:D016720 MONDO:0005923" - "A malignant neoplasm involving the lacrimal gland." "MEDGEN:56315 SCTID:127004000 UMLS:C0153627 NCIT:C3563 ICD9:239.89 DOID:294 ICD9:190.2" + "A malignant neoplasm involving the lacrimal gland." "MEDGEN:56315 UMLS:C0153627 SCTID:127004000 NCIT:C3563 ICD9:239.89 DOID:294 ICD9:190.2" "Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis." "MEDGEN:5288 Orphanet:349 NANDO:1200130 NCIT:C61274 DOID:14500 SCTID:64716005 NANDO:2200553 OMIM:230000 UMLS:C0016788 MESH:D005645 NORD:1168 ICD9:271.8 GARD:6473" "Quantification of the amount of 1,3-dimethylurate in a sample." "PMID:35347128" "MEDGEN:1785711 GARD:18273 UMLS:C5543280 OMIM:619271" @@ -37230,7 +37230,7 @@ "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." "NORD:1143 MedDRA:10068715 SCTID:82725007 NANDO:2201020 MESH:D009221 ICD9:728.11 Orphanet:337 OMIM:135100 DOID:13374 GARD:6445 MEDGEN:4698 NANDO:1200871 UMLS:C0016037 NCIT:C3040 icd11.foundation:2102976705" "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." "OMIM:613762 OMIM:154230 OMIM:233420 UMLS:C2936694 ICD10:Q97.3 OMIM:300018 OMIM:613080 OMIM:400044 OMIM:612965 OMIM:616425" - "A phenothiazine derivative in which the phenothiazine tricycle carries a chloro substituent at the 2-position and a 3-[4-(2-hydroxyethyl)piperazin-1-yl]propyl group at N-10." "MeSH:D010546 DrugBank:DB00850 KEGG DRUG:D00503 NCIt:C29355 SNOMEDCT:41147003 HMDB:HMDB0014988 PMID:27150024 PMID:1650428 ChemIDplus:58-39-9 CAS:58-39-9 KEGG COMPOUND:58-39-9 Beilstein:54730 KEGG COMPOUND:C07427 NIST Chemistry WebBook:58-39-9 Reaxys:54730 KEGG:D00503 PMID:26660173 PMID:14401911 Patent:US2860138 LINCS:LSM-2224 Wikipedia:Perphenazine Patent:US2766235 SNOMEDCT:387229007 KEGG:C07427 Drug_Central:2113 PMID:15674907 CiteXplore:1650428" + "A phenothiazine derivative in which the phenothiazine tricycle carries a chloro substituent at the 2-position and a 3-[4-(2-hydroxyethyl)piperazin-1-yl]propyl group at N-10." "MeSH:D010546 DrugBank:DB00850 KEGG DRUG:D00503 NCIt:C29355 SNOMEDCT:41147003 HMDB:HMDB0014988 PMID:27150024 PMID:1650428 ChemIDplus:58-39-9 CAS:58-39-9 KEGG COMPOUND:58-39-9 Beilstein:54730 NIST Chemistry WebBook:58-39-9 KEGG COMPOUND:C07427 Reaxys:54730 KEGG:D00503 PMID:26660173 PMID:14401911 Patent:US2860138 LINCS:LSM-2224 Wikipedia:Perphenazine Patent:US2766235 SNOMEDCT:387229007 KEGG:C07427 Drug_Central:2113 PMID:15674907 CiteXplore:1650428" "The amount of a protein phosphatase 1 regulatory subunit 29 when measured in blood serum." "Quantification of leucine-rich repeat neuronal protein 1 in a sample." "PMID:29875488" @@ -38052,7 +38052,7 @@ "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" "SNOMEDCT:258806002" "Quantification of minosaminomycin in blood plasma." "KEGG COMPOUND:C17969" - "A disorder affecting the urinary bladder" "ICD9:596.9 NCIt:C2900 MEDGEN:2278 ICD10:N32 DOID:365 UMLS:C0005686 MESH:D001745 ICD9:596.8 NCIT:C2900 SCTID:42643001 MONDO:0006026" + "A disorder affecting the urinary bladder" "MONDO:0006026 ICD9:596.9 NCIt:C2900 MEDGEN:2278 ICD10:N32 DOID:365 UMLS:C0005686 MESH:D001745 ICD9:596.8 NCIT:C2900 SCTID:42643001" "a hornlike skin condition not inherited at birth, but acquired later in the life" "MEDGEN:44016 SCTID:400166009 UMLS:C0022581 NCIT:C34746 ICD9:701.1 DOID:13072 MONDO:0006522" "Orphanet:139039 GARD:19908" "Quantification of the amount of 2-ketocaprylate in a sample." "PMID:35347128" @@ -38242,7 +38242,7 @@ "Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents." "UMLS:C1832432 SCTID:726735000 MESH:C563338 Orphanet:1027 MEDGEN:321955 GARD:16554 OMIM:601360" - "The polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein." "UMLS:C0227518 Wikipedia:Lobules_of_liver NCIT:C32732 SCTID:362194004 MA:0002494 EMAPA:35499 FMA:14471" + "The polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein." "UMLS:C0227518 Wikipedia:Lobules_of_liver SCTID:362194004 NCIT:C32732 MA:0002494 EMAPA:35499 FMA:14471" "Quantification of zinc finger protein 180 in a sample." "PMID:29875488" "A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated." "OMIM:600176 UMLS:C1838491 MEDGEN:333107 Orphanet:2798 SCTID:763861000 MESH:C538091 GARD:409" @@ -38265,7 +38265,7 @@ "Quantification of the amount of Dopamine sulfate (2) in a sample." "PMID:35050183" "An encounter with members of a health service related to socioeconomic and psychosocial circumstances." "ICD10:Z60" "Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan." "UMLS:C0025309 MeSH:D008590 MedDRA:10027282 MESH:D008590 SCTID:7125002 DOID:10554 MEDGEN:6301 ICD10:G04 NCIT:C34813 MONDO:0005845" - "An atrophic and sclerotic condition of the head of the PENIS, glans penis. Sometimes it leads to stenosis and occasionally obliteration of the external meatal orifice." "UMLS:C0022782 MedDRA:10024394 ICD10:N48.0 ICD9:607.0 MeSH:D052798 SCTID:3323003 MONDO:0006830 DOID:8738 MEDGEN:44036 SNOMEDCT:3323003 NCIT:C3151" + "An atrophic and sclerotic condition of the head of the PENIS, glans penis. Sometimes it leads to stenosis and occasionally obliteration of the external meatal orifice." "MedDRA:10024394 UMLS:C0022782 ICD10:N48.0 ICD9:607.0 MeSH:D052798 SCTID:3323003 MONDO:0006830 DOID:8738 MEDGEN:44036 SNOMEDCT:3323003 NCIT:C3151" "The amount of a mitotic spindle assembly checkpoint protein MAD2A when measured in blood serum." "A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis." "SNOMEDCT:238870004 NCIt:C34951 OMIM:176670 MeSH:D011371 DOID:3911" "CS57905 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158929&type=germplasm" @@ -39165,7 +39165,7 @@ "Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." "OMIM:300455" "human hepatocellular carcinoma cell line from a 51 year old Japanese male with hepatocellular carcinoma" - "CLO:0003650 RRID:CVCL_1261" + "RRID:CVCL_1261 CLO:0003650" "A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE)." "SCTID:200938002 UMLS:C5574816 Orphanet:90281 NCIT:C26820 icd11.foundation:2144907708 GARD:19131 ICD10CM:L93.0 MEDGEN:1811126 MESH:D008179 MedDRA:10013072" "ZFA:0000787" "Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality." "MESH:D030243 DOID:5115 MeSH:D001912 MONDO:0005679 MESH:D001912" @@ -39516,7 +39516,7 @@ "Spinocerebellar ataxia-42 is an autosomal dominant neurologic disorder characterized predominantly by gait instability and additional cerebellar signs such as dysarthria, nystagmus, and saccadic pursuits. The age at onset and severity of the disorder is highly variable; it is slowly progressive (summary by Coutelier et al., 2015)." "MONDO:0014776 GARD:17811 NCIT:C171269 UMLS:C4225205 Orphanet:458803 OMIM:616795 MEDGEN:902592 DOID:0111742" "The amount of a importin subunit alpha-7 when measured in blood serum." "A micrometer is a length unit which is equal to 1m x 10^-6." "SNOMEDCT:258674000 NCIt:C48510 MO:421" - "Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." "MESH:D010484 MONDO:0006897 MedDRA:10060985 DOID:4617 UMLS:C0031029 MeSH:D010484 SCTID:81407003 MEDGEN:45395" + "Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." "MESH:D010484 MONDO:0006897 MedDRA:10060985 DOID:4617 UMLS:C0031029 MeSH:D010484 MEDGEN:45395 SCTID:81407003" "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected." "OMIM:616204 GARD:17557 Orphanet:363432 MEDGEN:863942 DOID:0080042 UMLS:C4015505" "Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another." @@ -39589,7 +39589,7 @@ "Quantification of an individual's susceptibility to cold sores, vesicular lesions of the lips and mouth caused by another member of the human herpesvirus family, herpes simplex virus type 1 (HSV-1)" "PMID:28928442" - "An estradiol that is estra-1,3,5(10)-triene substituted by hydroxy groups at positions 3 and 17 (the 17alpha stereoisomer)." "PMID:11379378 PMID:24564600 KEGG COMPOUND:57-91-0 LINCS:LSM-36371 PMID:15698550 PMID:10977945 PMID:28877759 ChEMBL:149018 PMID:22581453 Beilstein:2698044 PMID:1920120 KEGG:C02537 Chemspider:61840 CAS:57-91-0 HMDB:HMDB0000429 PMID:15947006 PMID:20451236 MetaCyc:CPD-351 KEGG:D07121 PMID:12234624 Wikipedia:17%CE%B1-Estradiol Gmelin:2190991 PMID:12115026 PMID:19093730 LIPID_MAPS_instance:LMST02010029 NIST Chemistry WebBook:57-91-0 ChemIDplus:57-91-0 PMID:24245565 PMID:1810267 PMID:16042770 PMID:11410806 PMID:10533159 KEGG COMPOUND:C02537 ChemIDplus:2698044 PMID:18644750 PMID:9457484 FooDB:FDB011524 PMID:7925599" + "An estradiol that is estra-1,3,5(10)-triene substituted by hydroxy groups at positions 3 and 17 (the 17alpha stereoisomer)." "PMID:11379378 PMID:24564600 KEGG COMPOUND:57-91-0 LINCS:LSM-36371 PMID:15698550 PMID:10977945 PMID:28877759 ChEMBL:149018 PMID:22581453 Beilstein:2698044 PMID:1920120 KEGG:C02537 Chemspider:61840 CAS:57-91-0 PMID:15947006 HMDB:HMDB0000429 PMID:20451236 MetaCyc:CPD-351 KEGG:D07121 PMID:12234624 Wikipedia:17%CE%B1-Estradiol Gmelin:2190991 PMID:12115026 PMID:19093730 LIPID_MAPS_instance:LMST02010029 NIST Chemistry WebBook:57-91-0 ChemIDplus:57-91-0 PMID:24245565 PMID:1810267 PMID:16042770 PMID:11410806 PMID:10533159 KEGG COMPOUND:C02537 ChemIDplus:2698044 PMID:18644750 PMID:9457484 FooDB:FDB011524 PMID:7925599" "Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." "ICD10:H21.1 UMLS:C1168173 MedDRA:10059200" "Quantification of the expression of IL-6 gene, encoding interleukin-6." "PMID:34025683" "GARD:18444 OMIM:619216 MEDGEN:1786836 DOID:0081426 UMLS:C5543119" @@ -39754,7 +39754,7 @@ "A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood." "NCIT:C131632 UMLS:C0015519 SCTID:76642003 MESH:D005171 NANDO:2200678 MEDGEN:4635" "A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "UMLS:C1335994 DOID:6880 MEDGEN:234788 NCIT:C5336" "The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes." "UMLS:C0011603 SNOMEDCT_US:703938007 MP:0004947 UMLS:C3875321" - "Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form." "ZFA:0000279 VHOG:0000559 TAO:0000279 XAO:0000057 AAO:0011086 EMAPA:16752 EMAPA:16189 EFO:0001982" + "Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form." "ZFA:0000279 TAO:0000279 VHOG:0000559 XAO:0000057 AAO:0011086 EMAPA:16752 EMAPA:16189 EFO:0001982" "A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." "NCIT:C5554 Orphanet:424002 GARD:21770 SCTID:766979005 UMLS:C1335690 DOID:5528 MEDGEN:235534" "Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia." "MEDGEN:336493 OMIM:271320 MESH:C536989 GARD:3795 Orphanet:2572 SCTID:715465001 UMLS:C1849085" "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." "GARD:17171 DOID:0111502 OMIM:300816 SCTID:722212004 UMLS:C3151753 MEDGEN:463103 Orphanet:238329" @@ -39932,7 +39932,7 @@ "OMIM:619176 GARD:18500 MEDGEN:1766720 UMLS:C5436938" "Quantification of YTH domain-containing protein 1 in a sample." "PMID:29875488" "Quantification of the amount of guanosine in a sample." "PMID:24816252" - "MEDGEN:48263 Orphanet:79224 DOID:653 MedDRA:10037546 ICD9:277.2 MESH:D011686 UMLS:C0034139 GARD:18980" + "MEDGEN:48263 Orphanet:79224 DOID:653 ICD9:277.2 MedDRA:10037546 MESH:D011686 UMLS:C0034139 GARD:18980" "Quantification of chromodomain-helicase-DNA-binding protein 7 in a sample." "PMID:29875488" "The amount of a RNA-binding motif, single-stranded-interacting protein 1 when measured in blood serum." "Congenital ptosis is characterized by superior eyelid drop present at birth." "Orphanet:91411 OMIM:178300 MedDRA:10015996 ICD9:743.61 NCIT:C27049 DOID:0060261 MESH:C566737 HP:0007970 GARD:16798 MEDGEN:357987 UMLS:C1867438 SCTID:268163008" @@ -39941,7 +39941,7 @@ "Quantification of palmitoleoyl-protein carboxylesterase NOTUM in a sample." "PMID:29875488" "Orphanet:79219 MEDGEN:1843271 GARD:18979 UMLS:C5681275" "Concentration of protoporphyrins in erythrocytes above the upper limit of normal." "UMLS:C4023007" - "Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball." "TAO:0001410 BTO:0004687 ZFA:0001410 FMA:53074 galen:Orbit Wikipedia:Orbit_(anatomy) MESH:D009915 NCIT:C12347 GAID:223 UMLS:C0029180 MA:0002482 XAO:0003171" + "Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball." "TAO:0001410 BTO:0004687 ZFA:0001410 galen:Orbit FMA:53074 Wikipedia:Orbit_(anatomy) MESH:D009915 NCIT:C12347 GAID:223 UMLS:C0029180 MA:0002482 XAO:0003171" "OMIM:619177 DOID:0112273 MEDGEN:1780365 UMLS:C5543033" "MEDGEN:1684867 UMLS:C5231400 OMIM:618009 GARD:18514" @@ -40623,7 +40623,7 @@ "CiteXplore:22313325 CiteXplore:21618303 Wikipedia:U0126 CiteXplore:22301382 CiteXplore:22129618 CiteXplore:22101421 CiteXplore:22396328 PDBeChem:5BM CiteXplore:22025280 ChEMBL:150681 MeSH:C113580 CiteXplore:22286127 Reaxys:3483750 ChemIDplus:109511-58-2 CiteXplore:22354777 CiteXplore:22273495 CiteXplore:22182511 CiteXplore:22052387 CiteXplore:22075021" "Darier's disease is an autosomal dominant disorder discovered by French dermatologist Ferdinand-Jean Darier. Darier's is characterized by dark crusty patches on the skin, sometimes containing pus. The crusty patches are also known as keratotic papules, keratosis follicularis or dyskeratosis follicularis." "DOID:2734 SNOMEDCT:48611009 Wikipedia:Darier%27s_disease OMIM:101900" "DOID:0070053 MEDGEN:816736 OMIM:615761 GARD:17673 UMLS:C3810406 Orphanet:404440" - "Any impairment to the vision." "NCIT:C35126 MEDGEN:12103 MESH:D014786 SCTID:95677002 UMLS:C0042790 MedDRA:10047518" + "Any impairment to the vision." "NCIT:C35126 MEDGEN:12103 MESH:D014786 UMLS:C0042790 SCTID:95677002 MedDRA:10047518" "The amount of a cyclin-dependent kinase 2-associated protein 1 when measured in blood serum." "Symptom complex due to ACTH production by non-pituitary neoplasms." "ICD10:E24.3 MedDRA:10014146 MeSH:D000182 NCIt:C4387" @@ -41157,7 +41157,7 @@ "A IgG4-related disease that involves the eye." "MEDGEN:1800432 Orphanet:449563 GARD:21885 UMLS:C5569009" "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal." "SCTID:26445008 Orphanet:195 UMLS:C0265493 MEDGEN:120543 NORD:899 OMIM:115470 MESH:C535918 DECIPHER:42 NCIT:C75477 GARD:26" - "The conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching." "EHDAA:8171 EHDAA:8199 Wikipedia:Bronchiole MESH:D055745 SCTID:278982001 UMLS:C0006270 FMA:7410 CALOHA:TS-2003 EMAPA:32697 VHOG:0000675 MA:0000422 EHDAA:8183 NCIT:C12684 BTO:0002375 EHDAA:8221" + "The conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching." "EHDAA:8199 EHDAA:8171 Wikipedia:Bronchiole MESH:D055745 SCTID:278982001 UMLS:C0006270 FMA:7410 CALOHA:TS-2003 EMAPA:32697 VHOG:0000675 MA:0000422 EHDAA:8183 NCIT:C12684 BTO:0002375 EHDAA:8221" "Any process involved in the maintenance of an internal steady state of sodium ions within an organism or cell." "Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." "GARD:10474 MEDGEN:369786 UMLS:C1963674 Orphanet:98761 OMIM:603516 DOID:0050960 SCTID:715754007 MESH:C566874" "The amount of a phosphoglycerate kinase 2 when measured in blood serum." @@ -41215,7 +41215,7 @@ "Quantification of the amount of intact parathyroid hormone in a sample. Intact parathyroid hormone consists of 84 amino acids and is the biologically active form of parathyroid hormone that is secreted into the circulation in response to low calcium levels." "PMID:33441150 PMID:31081903" "Double-stranded break labeling to map chromosome breaks (Break-seq)" "PMID:25609572" "OMIM:620666" - "A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." "EFO:1000438 UMLS:C4085370 SCTID:274142002 MONDO:0006345 MEDGEN:903450 HP:0005679 MESH:D004387 EFO:0004229 SCTID:203045001 NCIT:C3469" + "A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." "NCIT:C3469 EFO:1000438 UMLS:C4085370 SCTID:274142002 MONDO:0006345 MEDGEN:903450 HP:0005679 MESH:D004387 EFO:0004229 SCTID:203045001" "The amount of a RalBP1-associated Eps domain-containing protein 2 when measured in blood serum." "GARD:21315 MedDRA:10072221 NORD:1260 MESH:D054078 UMLS:C0342731 Orphanet:309025 NANDO:2200436 MEDGEN:87453" "Quantification of the volume of the superior parietal cortex." "PMID:31530798" @@ -41794,7 +41794,7 @@ "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. [ NCIt:P378 ]" "ICD9:255.10 UMLS:C0020428 MedDRA:10020571 MONDO:0003009 ICD10CM:E26 DOID:446 MESH:D006929 ICD9:255.1 ICD10:E26 MEDGEN:6960 SCTID:88213004" "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene." "GARD:15844 OMIM:614819 MEDGEN:766699 UMLS:C3553785" - "A carcinoma that arises from epithelial cells of the anal canal" "UMLS:C0563211 SCTID:285310000 MESH:C563020 Orphanet:424013 NCIT:C7489 OMIM:105580 DOID:6126 GARD:21772 MEDGEN:107559" + "A carcinoma that arises from epithelial cells of the anal canal" "UMLS:C0563211 MESH:C563020 SCTID:285310000 Orphanet:424013 NCIT:C7489 OMIM:105580 DOID:6126 GARD:21772 MEDGEN:107559" "Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself." "MeSH:D052958" "The atrial part of middle layer of the heart, comprised of involuntary muscle." "MA:0000081 ZFA:0001374 EMAPA:32746 EFO:0003087 VHOG:0000602 TAO:0001374 FMA:83509 SCTID:191910002" @@ -42819,7 +42819,7 @@ "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." "NCIT:C75469 OMIM:182290 MEDGEN:162881 DECIPHER:8 ICD9:758.33 GARD:8197 NANDO:2200954 NANDO:1200687 DOID:0060768 MESH:D058496 UMLS:C0795864 NORD:1725 SCTID:401315004 Orphanet:819" "Diamond–Blackfan anemia (DBA), is a congenital erythroid aplasia that usually presents in infancy and results in low red blood cell counts (anemia)." "MeSH:D029503 OMIM:105650" "The amount of a SH3 domain-containing kinase-binding protein 1 when measured in blood serum." - "Major subdivision of an organism that protrudes from the body[DOS, CARO]." "EFO:0000799 BTO:0001492 VSAO:0000075 FBbt:00007000 EHDAA2:0003193 EMAPA:37283 UMLS:C0598782 NCIT:C61460 MESH:D005121 XAO:0000218 Wikipedia:Appendage EV:0100155 HAO:0000144 AEO:0000193 MIAA:0000023 BILA:0000018 MAT:0000023 CARO:0010003" + "Major subdivision of an organism that protrudes from the body[DOS, CARO]." "BTO:0001492 VSAO:0000075 FBbt:00007000 EHDAA2:0003193 EMAPA:37283 UMLS:C0598782 NCIT:C61460 MESH:D005121 XAO:0000218 Wikipedia:Appendage EV:0100155 HAO:0000144 AEO:0000193 MIAA:0000023 BILA:0000018 MAT:0000023 CARO:0010003 EFO:0000799" "A monocarboxylic acid that is propanoic acid in which one of the hydrogens at position 3 has been replaced by a 4-hydroxy-3-methoxyphenyl group." "PMID:27102241 FooDB:FDB029987 PMID:26899568 PMID:11693915 PMID:23904092 PMID:25644343 PMID:26471074 PMID:19157126 PMID:21676405 PMID:24947504 AGR:IND601125916 PMID:24949277 PMID:27689343 Reaxys:2110370 PMID:23982107 PMID:25809126 KNApSAcK:C00040946 PMID:17469871 PMID:25261518 PMID:11368919 CAS:1135-23-5" "A chronic inflammatory process that affects the tissues that surround and support the teeth." "MedDRA:10009102 MONDO:0005593 ICD9:523.40 SCTID:5689008 ICD9:523.4 OMIM:260950 ICD10CM:K05.3 NCIt:C35326 OMIM:170650 MeSH:D055113 MESH:D055113 SNOMEDCT:5689008 NCIT:C35326" @@ -43793,6 +43793,7 @@ "The amount of a probable aminopeptidase NPEPL1 when measured in blood serum." "A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." "DOID:4147 MEDGEN:184920 MONDO:0006180 NCIT:C36207 UMLS:C0948101 EFO:1000217" "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." "MeSH:D055496 ICD9:564.81 UMLS:C0695242 MONDO:0006868 MEDGEN:151969 ICD10:K59.2 SNOMEDCT:425671009 MedDRA:10048657 MESH:D055496 DOID:13419 SCTID:425671009" + "A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system." "DOID:0080684" "Orphanet:102369" "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 38 carbons and 5 double bonds." "PMID:19347970" @@ -43996,7 +43997,7 @@ "Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision." "UMLS:C2937228 SNOMEDCT_US:420990001 UMLS:C0241688" "An abnormality of the lens." "UMLS:C0549651 UMLS:C0023308 SNOMEDCT_US:10810001" "An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. The parent of the class of biotins." "PMID:9164991 Drug_Central:373 PMID:11481419 PMID:8333586 COMe:MOL000144 PMID:9416479 PMID:12803839 PMID:21871906 PMID:18509457 PMID:12070309 PMID:21248194 PMID:11800048 LINCS:LSM-3994 PMID:10064317 PMID:21356565 PMID:15202718 PMID:18452485 KNApSAcK:C00000756 PMID:11435506 PDBeChem:BTN PMID:8750932 CAS:58-85-5 PMID:17297119 PMID:1814646 PMID:18202531 Wikipedia:Biotin PMCID:PMC8089577 PMID:15899401 PMID:15863846 Reaxys:86838 PMID:16419467 PMID:21373679 PMID:16195795 PMID:15272000 DrugBank:DB00121 FooDB:FDB014510 HMDB:HMDB0000030 Chemspider:149962 PMID:2100006 PMID:19928962 PMID:12055344 PMID:15992684 PMID:19319844 PMID:20974274 PMID:16704206 PMID:15690449 PMID:16769720 PMID:9094878 PMID:9176832 PMID:25515858 PMID:10215065 KEGG:C00120 PMID:9371938 MetaCyc:BIOTIN PMID:19727438 PMID:16676358 PMID:16011464 PMID:16677798 PMID:33461365 PMID:10577274 PMID:34077272 PMID:33346513 PMID:21596550 PMID:20967359 PMID:12603856 KEGG:D00029 PMID:15012185 Gmelin:1918703 PMID:9038855 Beilstein:86838 PMID:19212411 PMID:9022537" - "A squamous cell carcinoma that involves the oropharynx." "NCIT:C8181 MEDGEN:76094 Orphanet:500478 ONCOTREE:OPHSC GARD:17928 UMLS:C0280313 icd11.foundation:839740136" + "A squamous cell carcinoma that involves the oropharynx." "NCIT:C8181 MEDGEN:76094 Orphanet:500478 UMLS:C0280313 ONCOTREE:OPHSC GARD:17928 icd11.foundation:839740136" "OMIM:615767 OMIM:613148 OMIM:612567 ICD10:K52.8" "Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining)." "SNOMEDCT_US:41841004 UMLS:C0002896" "Hindrance of the passage of luminal contents in the DUODENUM. Duodenal obstruction can be partial or complete, and caused by intrinsic or extrinsic factors. Simple obstruction is associated with diminished or stopped flow of luminal contents. Strangulating obstruction is associated with impaired blood flow to the duodenum in addition to obstructed flow of luminal contents." "NCIt:C79548 MedDRA:10013830 DOID:3558 MeSH:D004380" @@ -44183,7 +44184,7 @@ "Quantification of the amount of X-12851 in a sample." "PMID:24816252" "Quantification of the amount of Hydantoin-5-propionic acid in a sample." "PMID:35050183" "epidermolysis bullosa not inherited at birth, most commonly presents as an acquired form of mechanobullous disorder. It is a very rare disease in which tense blisters appear at sites of trauma." "ICD10CM:L12.3 NANDO:1200635 UMLS:C0079293 Orphanet:46487 DOID:4313 GARD:6360 MESH:D016107 MONDO:0018747 SCTID:2772003 MEDGEN:37178 icd11.foundation:2034586329 MedDRA:10056508 NCIT:C84690 ICD9:695.19" - "Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." "MONDO:0005542 UMLS:C0948089 MeSH:D054058 SNOMEDCT:394659003 MESH:D054058 MEDGEN:215295 NCIt:C53652 SCTID:394659003 MedDRA:10051592 NCIT:C53652" + "Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." "MONDO:0005542 UMLS:C0948089 MeSH:D054058 SNOMEDCT:394659003 MESH:D054058 MEDGEN:215295 NCIt:C53652 SCTID:394659003 NCIT:C53652 MedDRA:10051592" "The amount of a alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase when measured in blood serum." "Inhaling and exhaling the smoke of tobacco or something similar to tobacco." "NCIt:C20134 MeSH:D012907" "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. [ url:http://en.wikipedia.org/wiki/Measles ]" "MEDGEN:6252 MESH:D008457 NCIT:C96406 UMLS:C0025007 DOID:8622 ICD9:055 ICD10CM:B05 MedDRA:10027011 MONDO:0004619 SCTID:14189004" @@ -44484,7 +44485,7 @@ "A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3’ end are purified." "The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid)." - "A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization." "BTO:0000671 UMLS:C0022646 MIAA:0000119 galen:Kidney XAO:0003267 MESH:D007668 CALOHA:TS-0510 Wikipedia:Kidney MAT:0000119 GAID:423 AAO:0000250" + "A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization." "BTO:0000671 UMLS:C0022646 MIAA:0000119 galen:Kidney XAO:0003267 MESH:D007668 CALOHA:TS-0510 Wikipedia:Kidney GAID:423 MAT:0000119 AAO:0000250" "A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas)." "UMLS:C1333799 MESH:C535650 MEDGEN:232237 Orphanet:100092 NCIT:C27721 GARD:2437" "An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." "SCTID:6655004 ICD9:464.0 ICD10CM:J04.0 DOID:9396 MEDGEN:1317 NCIT:C26688 ICD9:464.01 UMLS:C0001327 ICD9:464.00" @@ -44579,7 +44580,7 @@ "Sex reversal in an individual associated with a 9p24.3 deletion." "NCIT:C132270 MESH:C567887 MEDGEN:416704 OMIM:154230 GARD:15083 UMLS:C2752149 DOID:0111771" "A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." "MONDO:0019496 NCIT:C3809 ICD9:209-209.99 Orphanet:877 MESH:D018358 DOID:169 MEDGEN:64652 ICD9:209 ICD9:239.7 MeSH:D018358 UMLS:C0206754 GARD:9316 SCTID:255046005" "The chemical reactions and pathways involving any ribonucleoside, a nucleoside in which purine base is linked to a ribose (beta-D-ribofuranose) molecule." - "The tertiary bronchi (also known as the segmental bronchi) arise from the secondary bronchi. The respiratory epithelium lining their lumen is surrounded by a layer of smooth muscle. This layer is composed of two ribbons of smooth muscle that spiral in opposite directions. The smooth muscle layer is surrounded by irregular plates of hyaline cartilage which help maintain the patency of the airway. Each of the tertiary bronchi serves a specific bronchopulmonary segment. There are 10 tertiary bronchi in the right lung, and eight in the left. The tertiary bronchi get smaller and divide into primary bronchioles. [WP,unvetted]." "NCIT:C33526 MA:0000439 EMAPA:37739 Wikipedia:Segmental_bronchus VHOG:0001446 UMLS:C0444439 FMA:7407 EHDAA:7064 EHDAA:7043 EHDAA:7058 SCTID:245513001 EHDAA:7049 EHDAA:7070" + "The tertiary bronchi (also known as the segmental bronchi) arise from the secondary bronchi. The respiratory epithelium lining their lumen is surrounded by a layer of smooth muscle. This layer is composed of two ribbons of smooth muscle that spiral in opposite directions. The smooth muscle layer is surrounded by irregular plates of hyaline cartilage which help maintain the patency of the airway. Each of the tertiary bronchi serves a specific bronchopulmonary segment. There are 10 tertiary bronchi in the right lung, and eight in the left. The tertiary bronchi get smaller and divide into primary bronchioles. [WP,unvetted]." "NCIT:C33526 MA:0000439 EMAPA:37739 Wikipedia:Segmental_bronchus UMLS:C0444439 VHOG:0001446 FMA:7407 EHDAA:7064 EHDAA:7043 EHDAA:7058 SCTID:245513001 EHDAA:7049 EHDAA:7070" "Non-transformed BJ cells expressing hTERT and SV40 early region." "An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported." "MEDGEN:1806624 DOID:0081142 UMLS:C5676900 OMIM:619707" "A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative." "UMLS:C4551515 Orphanet:90280 MedDRA:10025141 MEDGEN:1632142 GARD:19130 DOID:0060386" @@ -44743,7 +44744,7 @@ "Quantification of the amount of dihomo-linoleate 20:2n6 in a sample." "PMID:24816252" "Cancer cell of the major organ of respiration the lung." "A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion." "NCIt:C2923 MedDRA:10058354" - "The trachea is the portion of the airway that attaches to the bronchi as it branches [GO:dph]." "Wikipedia:Vertebrate_trachea NCIT:C12428 MA:0000441 BTO:0001388 EHDAA2:0002066 XAO:0000118 EMAPA:16853 EHDAA:3078 MIAA:0000137 MAT:0000137 AAO:0010140 CALOHA:TS-1060 MESH:D014132 EV:0100040 SCTID:181213009 GAID:361 UMLS:C0040578 VHOG:0000371 FMA:7394 EFO:0000935" + "The trachea is the portion of the airway that attaches to the bronchi as it branches [GO:dph]." "Wikipedia:Vertebrate_trachea NCIT:C12428 MA:0000441 BTO:0001388 EHDAA2:0002066 XAO:0000118 EMAPA:16853 EHDAA:3078 MIAA:0000137 MAT:0000137 AAO:0010140 CALOHA:TS-1060 EV:0100040 MESH:D014132 SCTID:181213009 GAID:361 UMLS:C0040578 VHOG:0000371 FMA:7394 EFO:0000935" "Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies." "MESH:D007107 UMLS:C0020962 NCIT:C12735 FMA:9825 SCTID:362590003 AAO:0011003 VHOG:0001247 Wikipedia:Immune_system MA:0002711 BILA:0000104 XAO:0003152 ZFA:0001159 GAID:328 BTO:0005810 TAO:0001159" "The determination of the amount of granzyme b in a sample" "PMID:28240269" "OMIM:612445" @@ -46337,7 +46338,7 @@ "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts." "SCTID:702378002 Orphanet:99880 OMIM:145001 MEDGEN:310065 NCIT:C48287 GARD:10829 UMLS:C1704981" "ZFA:0000633" "Epidermal inclusion cyst (EIC), also known as sebaceous cyst and epidermoid cyst, is the most common cyst of the skin. It ranges in size from a few millimeters to a few centimeters and originates from the follicular infundibulum. Its contents are a cheesy, malodorous mixture of degraded lipid and keratin. It often ruptures, with associated pain and inflammation. (http://www.medicinenet.com/image-collection/epidermal_inclusion_cyst_eic_picture/picture.htm)" "NCIt:C3134 MedDRA:10014984" - "Myopathy caused by mitochondrial abnormalities." "MEDGEN:56484 UMLS:C0162670 GARD:20371 icd11.foundation:601991549 NCIT:C101328 Orphanet:206966 DOID:699 MESH:D017240 MedDRA:10027710" + "Myopathy caused by mitochondrial abnormalities." "MEDGEN:56484 UMLS:C0162670 GARD:20371 icd11.foundation:601991549 Orphanet:206966 NCIT:C101328 DOID:699 MESH:D017240 MedDRA:10027710" "Quantification of the volume of the caudal anterior cingulate cortex." "PMID:31530798" "Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme." "UMLS:C5679583 NCIT:C27753 MEDGEN:1842303 Orphanet:167714 GARD:12760" "An abnormal mass of tissue that results from excessive cell division. Tumors perform no useful body function. They may be benign (not cancerous) or malignant (cancerous)." @@ -46797,7 +46798,7 @@ "Quantification of group XIIB secretory phospholipase A2-like protein in a sample." "PMID:29875488" - "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis)." "MeSH:D020144 UMLS:C0751739 MEDGEN:148381 MONDO:0006505 DOID:10991 MESH:D020144" + "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis)." "MeSH:D020144 UMLS:C0751739 MEDGEN:148381 DOID:10991 MONDO:0006505 MESH:D020144" "The inferior portion of the trunk of the body, bounded anteriorly and laterally by the two hip bones and posteriorly by the sacrum and coccyx. The pelvis is divided by a plane passing through the terminal lines into the pelvis major superiorly and the pelvis minor inferiorly." "BTO:0001006" "UMLS:C4225190 OMIM:616829 DOID:0070268 GARD:17825 Orphanet:466703 MEDGEN:895025" @@ -46934,7 +46935,7 @@ "An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome." "UMLS:C5680583 Orphanet:183447 GARD:20265 MEDGEN:1843118" "The amount of a microtubule-associated tumor suppressor candidate 2 when measured in blood serum." - "Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ." "EMAPA:35493 FMA:30319 VHOG:0001272 Wikipedia:Ligament EFO:0001966 MESH:D008022 galen:Ligament FMA:21496 CALOHA:TS-2145 XAO:0004031 TAO:0001682 NCIT:C13046 MA:0000113 SCTID:182358004 UMLS:C0023685 ZFA:0001675" + "Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ." "EMAPA:35493 FMA:30319 VHOG:0001272 Wikipedia:Ligament EFO:0001966 MESH:D008022 FMA:21496 galen:Ligament CALOHA:TS-2145 XAO:0004031 TAO:0001682 NCIT:C13046 MA:0000113 SCTID:182358004 UMLS:C0023685 ZFA:0001675" "ICD10:Q87.0 OMIM:201020" "An inventory for personality traits devised by Cloninger et al. Traits scored include:\nNovelty Seeking (NS)\nHarm Avoidance (HA)\nReward Dependence (RD)\nPersistence (PS)\nSelf-Directedness (SD)\nCooperativeness (CO)\nSelf-Transcendence (ST)" @@ -47762,7 +47763,7 @@ "Lymphoblastoid cell line from a Mende male from Sierra Leone" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03066&Product=CC" "Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals." "LATE ONSET PARKINSON'S DNA PANEL, AFFECTED INDIVIDUALS PARKINSON'S DISEASE" - "A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting." "ICD9CM:007.1 MeSH:D005873 MONDO:0001103 DOID:10718 SNOMEDCT:58265007 SCTID:10679007 MESH:D005873 SNOMEDCT:10679007 MEDGEN:42213 ICD9:007.1 UMLS:C0017536" + "A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting." "ICD9CM:007.1 MONDO:0001103 MeSH:D005873 DOID:10718 SNOMEDCT:58265007 SCTID:10679007 MESH:D005873 SNOMEDCT:10679007 MEDGEN:42213 ICD9:007.1 UMLS:C0017536" ") genes. They are characterized by mycobacterial infections, occuring in males." "OMIM:300636 OMIM:300645 OMIM:300584 ICD10:D84.8" @@ -48270,7 +48271,7 @@ "A member of the class of pyrimidines that is pyrimidine carrying an isopropyl group at position 2, a methyl group at position 6 and a (diethoxyphosphorothioyl)oxy group at position 4." "HMDB:HMDB0032943 PPDB:212 MetaCyc:CPD-8965 KEGG:C14324 KEGG:D07856 PMID:18819606 PMID:14536034 VSDB:212 Wikipedia:Diazinon Beilstein:273790 Pesticides:diazinon Reaxys:273790 CAS:333-41-5" "Any process involved in the maintenance of an internal steady state of triglyceride within an organism or cell." "GO:0070328" "A mature CD8-positive, CD4-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor." - "Tumors or cancer of the BRONCHI." "MONDO:0002807 MESH:D001984 DOID:3906 MEDGEN:2735 UMLS:C0006264 HP:0030077 NANDO:2200081 MedDRA:10052245 MeSH:D001984 SCTID:126705004" + "Tumors or cancer of the BRONCHI." "MONDO:0002807 MESH:D001984 DOID:3906 MEDGEN:2735 UMLS:C0006264 HP:0030077 MedDRA:10052245 NANDO:2200081 MeSH:D001984 SCTID:126705004" "OMIM:269860 ICD10:Q77.2" "Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes." "Wikipedia:Diastasis_symphysis_pubis MeSH:D046548" "Catalysis of the reaction: a 2-oxo acid = an aldehyde + CO2." "MetaCyc:PYRUVATE-DECARBOXYLASE-RXN EC:4.1.1.1 RHEA:11628" @@ -48726,7 +48727,7 @@ "C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering." "Any structural anomaly of the ear." "Fyler:4867" - "A disease that involves the adenohypophysis." "ICD9:253.4 SCTID:51742006 ICD9:253.9 MEDGEN:148306 UMLS:C0751437" + "A disease that involves the adenohypophysis." "ICD9:253.4 SCTID:51742006 ICD9:253.9 UMLS:C0751437 MEDGEN:148306" "A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." "MONDO:0006202 EFO:1000247 NCIT:C5778" "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels." "SCTID:724039002 GARD:13177 UMLS:C3151058 Orphanet:88618 DOID:0111039 OMIM:613752 MEDGEN:462408" "MEDGEN:894862 OMIM:616652 Orphanet:477817 UMLS:C4225255 GARD:17859" @@ -48993,7 +48994,7 @@ "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine." "UMLS:C3696376 GARD:12966 NCIT:C98678 OMIMPS:250950 ICD10CM:E71.111 NANDO:2200496 SCTID:237950009 DOID:0060336 MESH:C579867 Orphanet:289902 NANDO:1200989 MEDGEN:777186" "The amount of a complexin-3 when measured in blood serum." - "Layer of simple cuboidal cells covering surface of ovary[WP]." "NCIT:C61518 EMAPA:17963 MA:0001711 FMA:18629 SCTID:258308007 EHDAA:8126 UMLS:C0227875 BTO:0004483 Wikipedia:Germinal_epithelium_(female) VHOG:0000630 RETIRED_EHDAA2:0001361" + "Layer of simple cuboidal cells covering surface of ovary[WP]." "NCIT:C61518 EMAPA:17963 MA:0001711 FMA:18629 EHDAA:8126 SCTID:258308007 UMLS:C0227875 BTO:0004483 Wikipedia:Germinal_epithelium_(female) VHOG:0000630 RETIRED_EHDAA2:0001361" "The amount of a protein phosphatase 1 regulatory subunit 3B when measured in blood serum." "quantification of the amount of tumor necrosis factor-inducible gene 6 protein in a sample" "Hi-C is a method for analysing 3-dimensional organisation and interaction of chromatin, belonging to the class of techniques collectively called \"Chromosome Conformation Capture\", in which chromatin is crosslinked, then digested, and re-ligated in such a way that only DNA fragments that are covalently linked together form ligation products. Together with 5C, Hi-C does not limit to the study to a specific locus in the genome, and can be used to study chromatin interaction across the genome. To achieve high-throughput, a biotin-labeled nucleotide is incorporated at the ligation junction, enabling selective purification of chimeric DNA ligation junctions followed by deep sequencing. Mapping the sequenced reads back to genome will reveal the origin of the fragments involved in the ligation events." @@ -49291,7 +49292,7 @@ "UMLS:C5679956 Orphanet:308380 MEDGEN:1826168 GARD:17385" "Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy." "MEDGEN:113172 NCIT:C35271 DOID:13195 UMLS:C0221777 SCTID:267369002" - "System pertaining to blood vessels in the brain." "FMA:61935 BTO:0003840 SCTID:362029003 EFO:0003491 EMAPA:35186 ZFA:0000099 FMA:242007 TAO:0000099" + "System pertaining to blood vessels in the brain." "FMA:61935 BTO:0003840 SCTID:362029003 EFO:0003491 EMAPA:35186 FMA:242007 ZFA:0000099 TAO:0000099" "A benign, borderline, or malignant surface epithelial-stromal tumor of the ovary. It is composed of an admixture of two or more of the following cell types, mucinous, serous, clear, transitional, or endometrioid cell." "NCIt:C4508" "Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." "MEDGEN:98358 SCTID:239031000 Orphanet:2753 OMIM:258860 DOID:0060374 MESH:C537133 GARD:816 UMLS:C0406727" "Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth." "NORD:1041 ICD9:520.5 SCTID:109493006 MESH:C531665 MEDGEN:97996 UMLS:C0399379 GARD:1807 MESH:C538215 OMIM:125400 Orphanet:99789" @@ -49345,7 +49346,7 @@ "Increased volume and globular shape of the anteroinferior aspect of the nose." "UMLS:C1834118 UMLS:C1855751 UMLS:C0240543" "An L-alpha-amino acid that is the L-isomer of arginine." "PMID:22439203 MetaCyc:ARG CAS:74-79-3 PMID:12812828 PMID:16416365 PMID:8070089 PMID:22428068 Reaxys:1725413 PMID:22251130 PMID:15016745 Gmelin:83283 HMDB:HMDB0000517 PMID:22619480 DrugBank:DB00125 KEGG:C00062 PMID:22667467 PMID:22425811 KEGG:D02982 PMID:17168727 PMID:11898853 PMID:22179117 ChemIDplus:74-79-3 PMID:22361732 PMID:11139824 Drug_Central:1549 PMID:22626826 Wikipedia:L-arginine PMID:22652429 PMID:22553931 KNApSAcK:C00001340 KEGG COMPOUND:C00062 Beilstein:1725413 PMID:15465805 PMID:19030957 PMID:17439666 PDBeChem:ARG PMID:22243793 ECMDB:ECMDB00517 PMID:11300497 PMID:21600268 PMID:22709481 PMID:21814794 PDBeChem:GND PMID:10848923 PMID:16056256 YMDB:YMDB00592" "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene." "GARD:18559 OMIM:614485 UMLS:C3280974 MEDGEN:482604" - "Posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine." "MA:0001453 FMA:11946 NCIT:C32138 EFO:0003618 SCTID:317373001 Wikipedia:Vertebral_arch ZFA:0001066 AAO:0000725 TAO:0001066 UMLS:C0223076 VHOG:0001670" + "Posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine." "FMA:11946 NCIT:C32138 EFO:0003618 SCTID:317373001 Wikipedia:Vertebral_arch ZFA:0001066 AAO:0000725 TAO:0001066 UMLS:C0223076 VHOG:0001670 MA:0001453" "quantification of the amount of beta-nerve growth factor in a sample" "An organization is a continuant entity which can play roles, has members, and has a set of organization rules. Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members." "SNOMEDCT:21139007 NCIt:C92453 MO:177" @@ -49548,7 +49549,7 @@ "A quinolone that is quinolin-4(1H)-one bearing cyclopropyl, carboxylic acid, fluoro and piperazin-1-yl substituents at positions 1, 3, 6 and 7, respectively." "VSDB:1763 MeSH:D002939 CAS:85721-33-1 Beilstein:3568352 PMID:10397494 PDBeChem:CPF PMID:10737746 DrugBank:DB00537 SNOMEDCT:7577004 LINCS:LSM-5226 Drug_Central:659 SNOMEDCT:372840008 HMDB:HMDB0014677 KEGG:C05349 Wikipedia:Ciprofloxacin Reaxys:3568352 NCIt:C375 Patent:DE3142854 KEGG:D00186 Patent:US4670444" "A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)" "DOID:14221 OMIM:605552 MeSH:D024821 MedDRA:10052066 ICD9:277.7 SNOMEDCT:237602007 NCIt:C84442 OMIM:615812" "Mature interstitial dendritic cell is a interstitial dendritic cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive." - "Vein that is central to a lobule in the liver." "ZFA:0005168 NCIT:C32281 FMA:17544 SCTID:272023004 Wikipedia:Central_veins_of_liver TAO:0005168" + "Vein that is central to a lobule in the liver." "ZFA:0005168 SCTID:272023004 NCIT:C32281 FMA:17544 Wikipedia:Central_veins_of_liver TAO:0005168" "short or long term physiological response of an organism, eg in terms of deposits of dust particles in lung tissues, to exposure to biological dust, usually of occupational or environment origin" "binge eating with or without purging" "SCTID:439960005 MONDO:0005582 NCIt:C97162 MedDRA:10004716 MEDGEN:154543 MESH:D002032 NCIT:C97162 UMLS:C0596170" "A cell involved in the formation of a granulocyte." "FMA:83519" @@ -50390,7 +50391,7 @@ "A xenobiotic (Greek, xenos \"foreign\"; bios \"life\") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means." "KEGG:C06708 MeSH:D015262 Wikipedia:Xenobiotic" "Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision." "UMLS:C0271051 MEDGEN:75732 NCIT:C35468 DOID:4449 SCTID:37231002" - "A disease that involves the nerve plexus." "NCIT:C27744 UMLS:C0270891 DOID:3688 ICD10:G54 UMLS:C1335437 MONDO:0024432 SCTID:2231001 MEDGEN:543047 NCIt:C27744" + "A disease that involves the nerve plexus." "NCIT:C27744 DOID:3688 UMLS:C0270891 ICD10:G54 UMLS:C1335437 MONDO:0024432 SCTID:2231001 MEDGEN:543047 NCIt:C27744" "A method that uses DNA-tagged antibodies to quantify proteins in single cells." "A disease that involving errors in metabolic processes." "MESH:D008659 NCIt:C3235 MONDO:0005066 DOID:0014667 MEDGEN:44376 SNOMEDCT:75934005 ICD9:277.9 ICD10WHO:E70-E90 SCTID:75934005 ICD10CM:E70-E88 NANDO:1100002 NCIT:C3235 MeSH:D008659 UMLS:C0025517 ICD9:277.8" "UMLS:C4748120 MEDGEN:1648308 OMIM:618087" @@ -50450,7 +50451,7 @@ "Quantification of zinc finger protein 334 in a sample." "PMID:29875488" "UMLS:C0265210 MeSH:C536687 ICD10:Q87.3 MedDRA:10083271 OMIM:277590" - "A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]." "galen:Vagina MAT:0000128 MESH:D014621 FMA:19949 CALOHA:TS-1103 GAID:381 MA:0000394 VHOG:0001138 EFO:0000976 EMAPA:18986 EV:0100117 MIAA:0000128 NCIT:C12407 SCTID:181441005 UMLS:C0042232 Wikipedia:Vagina BTO:0000243" + "A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]." "galen:Vagina MAT:0000128 MESH:D014621 FMA:19949 CALOHA:TS-1103 GAID:381 MA:0000394 VHOG:0001138 EMAPA:18986 EFO:0000976 EV:0100117 MIAA:0000128 NCIT:C12407 SCTID:181441005 UMLS:C0042232 Wikipedia:Vagina BTO:0000243" "An oxopurine that is the final oxidation product of purine metabolism." "SNOMEDCT:1710001 NCIt:C62652 MeSH:D014527 ChemIDplus:69-93-2 Wikipedia:Uric_acid HMDB:HMDB0000289" "Orphanet:647667 OMIM:619127 MEDGEN:1741713 UMLS:C5436867" "An assay with input RNA" @@ -51160,7 +51161,7 @@ "Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal." "ICD9:733.09 DOID:4837 SCTID:240161003 NANDO:1200878 NANDO:1200880 UMLS:C0029436 MEDGEN:45247" "Impairment of the renal function secondary to chronic kidney damage persisting for three or more months." "ICD10:N18 ICD9:585 NCIt:C80078 UMLS:C1561643 DOID:784 NCIT:C80078 MESH:D007676 MeSH:D007676 MONDO:0005300 MEDGEN:473458 NANDO:2100023 SCTID:709044004 MedDRA:10038444 SNOMEDCT:90688005 ICD9:585.6 ICD10CM:N18.9 SNOMEDCT:46177005 MedDRA:10064848 MeSH:D051436 NANDO:2100008" "Human anaplastic large T cell lymphoma cell line established from the pleural effusion an 11-year-old boy with CD30+ (Ki-1) large T cell lymphoma in 1983 (also described as \"SR\"); described to express the NPM1-ALK (NPM-ALK) fusion gene (DSMZ catalog number ACC 369)" "RRID:CVCL_1711 BTO:0003585 CLO:0009126 NCIt:C117126" - "A diffuse large B-cell lymphoma primarily involving the thyroid gland." "MONDO:0006462 UMLS:C1336749 NCIT:C6046 MEDGEN:234429 EFO:1000587" + "A diffuse large B-cell lymphoma primarily involving the thyroid gland." "MONDO:0006462 NCIT:C6046 UMLS:C1336749 MEDGEN:234429 EFO:1000587" "GARD:16223 OMIM:617350 MEDGEN:1376462 DOID:0080455 UMLS:C4479236" "Patent:EP306228 MeSH:C089730 PMID:33650786 LINCS:LSM-1949 PMID:32234642 DrugBank:DB00412 Drug_Central:2405 PMID:17259370 PMID:31936729 SNOMEDCT:395869000 ChemIDplus:122320-73-4 NCIt:C62076 Wikipedia:Rosiglitazone PMID:33746608 Patent:US5002953 PMID:30225267 ChEMBL:120027 Beilstein:7082202 SNOMEDCT:326053005 CAS:122320-73-4" "A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi." "MedDRA:10047505 SCTID:186803007 NCIT:C34771 UMLS:C0023290 MEDGEN:44098 ICD10CM:B55.0 DOID:9146 MONDO:0005445 ICD9:085.0 SNOMEDCT:186803007 OMIMPS:608207 MESH:D007898" @@ -51191,7 +51192,7 @@ "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a venlafaxine stimulus" "NORD:146101 UMLS:C4479319 GARD:16225 DOID:0080418 MEDGEN:1392637 OMIM:617391" - "A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications." "UMLS:C0008049 MONDO:0005700 SCTID:38907003 MEDGEN:2995 MeSH:D002644 ICD9:052.9 MESH:D002644 MedDRA:10008505 NCIT:C97132 ICD10:B01 DOID:8659 ICD9:052" + "A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications." "UMLS:C0008049 MONDO:0005700 SCTID:38907003 MEDGEN:2995 MeSH:D002644 MedDRA:10008505 ICD9:052.9 MESH:D002644 NCIT:C97132 ICD10:B01 DOID:8659 ICD9:052" "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral." "NANDO:2100204 SCTID:234532001 MEDGEN:7034 UMLS:C0021051 ICD9:279.3 NCIT:C3131 OMIMPS:300755" "MEDGEN:1750805 OMIM:619121 UMLS:C5436848 DOID:0070543" "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus." "MEDGEN:813072 OMIM:300915 DOID:0111811 GARD:17709 Orphanet:431140 UMLS:C3806742" @@ -51238,7 +51239,7 @@ "Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene." "DOID:0112000 OMIM:300645 NANDO:2201279 MESH:C567068 UMLS:C1970859 MEDGEN:370369 Orphanet:319623" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene." "OMIM:600101 DOID:0110558 MEDGEN:436997 MESH:C567441 UMLS:C2677637 GARD:18099" "A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis." "ICD9:459.10 MEDGEN:46043 DOID:2364 UMLS:C0032807 SCTID:20427003 ICD9:459.13 MESH:D011186 ICD10CM:I87.0 MeSH:D054070 MONDO:0005928 ICD9:459.11 ICD9:459.1 ICD9:459.12" - "An inflammatory process affecting the pericardium." "MEDGEN:18377 ICD10:I31 UMLS:C0031046 ICD10:I30 DOID:1787 MONDO:0005904 SCTID:3238004 NCIT:C34915 Orphanet:58208 MESH:D010493 MedDRA:10034484 HP:0001701 MeSH:D010493" + "An inflammatory process affecting the pericardium." "MEDGEN:18377 ICD10:I31 UMLS:C0031046 MONDO:0005904 ICD10:I30 DOID:1787 SCTID:3238004 NCIT:C34915 Orphanet:58208 MESH:D010493 MedDRA:10034484 HP:0001701 MeSH:D010493" "Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood." "OMIM:600457 Orphanet:3387 SCTID:717963001 MEDGEN:325346 GARD:8438 UMLS:C1838123 MESH:C538390" "OMIM:600461 ICD10:D58.8" @@ -51871,7 +51872,7 @@ "GARD:18015 UMLS:C4693824 OMIM:617982 MEDGEN:1647785 Orphanet:580940" "An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process." "SNOMEDCT:80142000 MeSH:D061270" - "DrugBank:DB00197 Drug_Central:2767 MetaCyc:CPD-11439 Patent:US4572912 Beilstein:4338399 SNOMEDCT:109085002 NCIt:C1522 SNOMEDCT:386967007 LINCS:LSM-4890 Wikipedia:Troglitazone MeSH:C057693 CAS:97322-87-7 KEGG:D00395" + "DrugBank:DB00197 Drug_Central:2767 Patent:US4572912 MetaCyc:CPD-11439 Beilstein:4338399 SNOMEDCT:109085002 NCIt:C1522 SNOMEDCT:386967007 LINCS:LSM-4890 Wikipedia:Troglitazone MeSH:C057693 CAS:97322-87-7 KEGG:D00395" "The amount of a leucine-rich repeat-containing protein 15 when measured in blood serum." "Quantification of dual specificity protein phosphatase 13 isoform A in a sample." "PMID:29875488" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene." "MEDGEN:864033 OMIM:616227 DOID:0110658 GARD:18453 UMLS:C4015596" @@ -52749,7 +52750,7 @@ "OMIM:213010" "Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition" "MedDRA:10022437 UMLS:C0917801 MESH:D007319 ICD10WHO:G47.0 MEDGEN:214589 NCIT:C28286 SCTID:193462001 NCIt:C28286 HP:0100785 ICD9:780.52 MONDO:0013600 ICD10CM:G47.0 SNOMEDCT:193462001 OMIM:614163" - "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. [ NCIt:P378 ]" "UMLS:C0024437 NCIT:C123330 DOID:4448 MONDO:0003004 MESH:D008268 MEDGEN:7434 MedDRA:10025409 SCTID:422338006" + "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. [ NCIt:P378 ]" "UMLS:C0024437 NCIT:C123330 DOID:4448 MONDO:0003004 MedDRA:10025409 MESH:D008268 MEDGEN:7434 SCTID:422338006" "The amount of a BRISC complex subunit Abraxas 2 when measured in blood serum." "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" @@ -53527,7 +53528,7 @@ "Orphanet:251633" "Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI. Deficits in lentiform nucleus volume and morphometry are implicated in a number of genetically influenced disorders, including Parkinson’s disease, schizophrenia, and ADH." - "A carbohydrate-containing antibiotic that is the semisynthetic derivative of lincomycin, a natural antibiotic." "KEGG:D00277 PMID:24310902 KEGG:C06914 KEGG:C13684 HMDB:HMDB0015321 Reaxys:5624049 PMID:11691576 NCIt:C377 KEGG:D02132 MeSH:D002981 SNOMEDCT:372786004 Wikipedia:Clindamycin PMID:18695329 CAS:18323-44-9 SNOMEDCT:58883005 DrugBank:DB01190" + "A carbohydrate-containing antibiotic that is the semisynthetic derivative of lincomycin, a natural antibiotic." "KEGG:D00277 PMID:24310902 KEGG:C06914 KEGG:C13684 HMDB:HMDB0015321 Reaxys:5624049 PMID:11691576 NCIt:C377 KEGG:D02132 MeSH:D002981 Wikipedia:Clindamycin SNOMEDCT:372786004 PMID:18695329 CAS:18323-44-9 SNOMEDCT:58883005 DrugBank:DB01190" "Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." "DOID:0111272 OMIM:304150 UMLS:C0268353 GARD:4017 NANDO:2200581 Orphanet:198 SCTID:59399004 MEDGEN:82793 MESH:C537860 NANDO:1200654" "UMLS:C3806301" "ICD10:Q56.1" @@ -53545,7 +53546,7 @@ "Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset." "UMLS:C3890205 NCIt:C119033 MONDO:0019432 GARD:3931 Orphanet:85408 MEDGEN:855549" "The result of a measurement of circulating antibodies specific to a ruminococcaceae antigen." "PMID:37164013" - "A pyridazinone that is pyridazin-3(2H)-one which is substituted at positions 2, 4, and 5 by m-(trifluoromethyl)phenyl, chloro, and methylamino groups, respectively. A pre-emergence herbicide used to control grasses and broad-leafed weeds in a variety of crops. Not approved for use within the European Union." "Patent:US3644355 CAS:27314-13-2 Patent:BE712832 PPDB:486 Pesticides:norflurazon Beilstein:757115 KEGG:C18874 PMID:24936791 PDBeChem:NRF PMID:16659463 PMID:26735720" + "A pyridazinone that is pyridazin-3(2H)-one which is substituted at positions 2, 4, and 5 by m-(trifluoromethyl)phenyl, chloro, and methylamino groups, respectively. A pre-emergence herbicide used to control grasses and broad-leafed weeds in a variety of crops. Not approved for use within the European Union." "CAS:27314-13-2 Patent:BE712832 PPDB:486 Pesticides:norflurazon Beilstein:757115 KEGG:C18874 PMID:24936791 PDBeChem:NRF PMID:16659463 PMID:26735720 Patent:US3644355" "The amount of a iron-sulfur cluster assembly enzyme ISCU when measured in blood serum." "The amount of a phosphomevalonate kinase when measured in blood serum." @@ -54184,7 +54185,7 @@ "Quantification of the amount of 1-margaroyl-2-oleoyl-GPC (17:0/18:1) in a sample." "PMID:35347128" "Human normal pancreas duct cell line; established from a 52 years old male" "RRID:CVCL_C466 BTO:0006092" - "An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively." "MeSH:D007627 NCIt:C3145 MEDGEN:7197 MedDRA:10023329 ICD9:701.4 MONDO:0005348 UMLS:C0022548 SNOMEDCT:58405006 MESH:D007627 NCIT:C3145 SCTID:33659008" + "An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively." "MeSH:D007627 MEDGEN:7197 NCIt:C3145 MedDRA:10023329 ICD9:701.4 MONDO:0005348 UMLS:C0022548 SNOMEDCT:58405006 MESH:D007627 NCIT:C3145 SCTID:33659008" "OMIM:137763" "MedDRA:10079731 OMIM:228250 ICD10:Q74.8 UMLS:C1856789" "Quantification of the ratio of Asp-phe to 3-Indolepropionic acid ratio in a sample." "PMID:33634981" @@ -54760,7 +54761,7 @@ "Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" "OMIM:193510 OMIM:611584 ICD10:E70.3 MeSH:C536463 OMIM:608890 UMLS:C2700265 OMIM:606662 OMIM:600193" "A long bone is a bone that has a shaft and 2 ends and is longer than it is wide. Long bones have a thick outside layer of compact bone and an inner medullary cavity containing bone marrow. The ends of a long bone contain spongy bone and an epiphyseal plate or line depending on the stage of development. The epiphyseal plate is a hyaline cartilage, where new bone growth takes place, lengthening the bone prior to adulthood. Bone lengthening ceases when this cartilage is lost, leaving a remnant referred to as an epiphyseal line." "Wikipedia:Long_bone NCIT:C33003 galen:LongBone SCTID:332709000 BTO:0004256 MA:0002802 UMLS:C0222647 FMA:7474 EMAPA:35503" "Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at MENOPAUSE." "MeSH:D059268 MedDRA:10003690 SNOMEDCT:52441000" - "Abnormally high intraocular pressure." "NCIt:C3285 SCTID:4210003 MedDRA:10030043 MESH:D009798 DOID:9282 MONDO:0006875 UMLS:C0028840 SNOMEDCT:4210003 ICD9:365.04 MEDGEN:10423 MeSH:D009798" + "Abnormally high intraocular pressure." "NCIt:C3285 SCTID:4210003 MESH:D009798 MedDRA:10030043 DOID:9282 MONDO:0006875 UMLS:C0028840 SNOMEDCT:4210003 ICD9:365.04 MEDGEN:10423 MeSH:D009798" "A primary or metastatic malignant neoplasm involving the nervous system." "MONDO:0005872 SCTID:372063002 ICD9:192.9 EFO:0007392 DOID:3093 ICD9:192.8 UMLS:C0497549 MESH:D009423 ICD9:192 MEDGEN:99231 NCIT:C4788" "Quantification of the amount of X-17335 in a sample." "PMID:35347128" "ICD10:Q43.1" @@ -57395,7 +57396,7 @@ "ICD10:Q87.2" "The stage of a sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites." "IDOMAL:0000306" - "An intromittent organ in certain biologically male organisms. In placental mammals, this also serves as the organ of urination." "EMAPA:18682 Wikipedia:Penis BTO:0000405 GAID:389 CALOHA:TS-0758 EV:0100107 EHDAA2:0001433 VHOG:0000727 UMLS:C0030851 MA:0000408 MESH:D010413 EMAPA_RETIRED:18996 EFO:0000987 MIAA:0000186 MAT:0000186 EHDAA:9380 NCIT:C12409 galen:Penis FMA:9707 SCTID:265793009" + "An intromittent organ in certain biologically male organisms. In placental mammals, this also serves as the organ of urination." "EMAPA:18682 Wikipedia:Penis BTO:0000405 GAID:389 EV:0100107 CALOHA:TS-0758 EHDAA2:0001433 VHOG:0000727 UMLS:C0030851 MA:0000408 MESH:D010413 EMAPA_RETIRED:18996 EFO:0000987 MIAA:0000186 MAT:0000186 EHDAA:9380 NCIT:C12409 galen:Penis FMA:9707 SCTID:265793009" "SNOMEDCT:36703000 NCIt:C87529" "Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms." "Wikipedia:Insect" "A germ cell tumor of the central nervous system occurring in adults." "UMLS:C0280796 DOID:5349 NCIT:C6285 MEDGEN:128893" diff --git a/src/ontology/reports/class-count-by-prefix.tsv b/src/ontology/reports/class-count-by-prefix.tsv index 03c9f55b..218437a7 100644 --- a/src/ontology/reports/class-count-by-prefix.tsv +++ b/src/ontology/reports/class-count-by-prefix.tsv @@ -21,7 +21,7 @@ "CHEBI" 1774 "OBI" 72 "IDO" 1 -"MONDO" 12171 +"MONDO" 12172 "FBdv" 1 "FBbt" 110 "IAO" 6 diff --git a/src/ontology/reports/edges.tsv b/src/ontology/reports/edges.tsv index e6993b82..21981b61 100644 --- a/src/ontology/reports/edges.tsv +++ b/src/ontology/reports/edges.tsv @@ -1,12568 +1,12568 @@ ?x ?p ?y - + + + + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid295626 + + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid296738 + + + + + + + + + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid28911 + + + + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid343901 + + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid271218 + 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- _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid319287 @@ -44016,6 +44024,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid13316 @@ -44097,6 +44106,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid320299 @@ -44105,8 +44115,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -44124,7 +44134,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid319647 @@ -44176,6 +44185,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid320683 @@ -44326,6 +44336,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid3832 @@ -44401,7 +44412,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - 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@@ -60889,8 +60890,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -60942,7 +60943,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid297698 @@ -60969,8 +60969,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -61013,7 +61013,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid318815 @@ -61067,11 +61066,9 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid318350 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid318731 @@ -61114,6 +61111,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid319675 @@ -61130,10 +61128,11 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid318911 - + @@ -61189,8 +61188,8 @@ 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+73874,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid319339 @@ -73923,9 +73925,9 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -73938,21 +73940,21 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + + - + - @@ -73971,8 +73973,9 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid320563 @@ -74053,14 +74056,17 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid297901 + + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid307459 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid318411 @@ -74110,6 +74116,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid310039 @@ -74159,9 +74166,9 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + - @@ -74268,8 +74275,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -74364,6 +74371,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid31357 @@ -74423,7 +74431,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid19585 @@ -74433,6 +74440,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid36376 @@ -74485,7 +74493,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid320111 @@ -74510,7 +74517,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid320571 @@ -74539,6 +74545,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid319067 @@ -74556,8 +74563,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -74567,6 +74574,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid286035 @@ -74625,9 +74633,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid25781 + @@ -74705,7 +74712,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid318439 @@ -74742,9 +74748,10 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid320387 @@ -74865,6 +74872,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid307454 @@ -75089,8 +75097,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -75152,7 +75160,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid316056 @@ -75214,8 +75221,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -75281,9 +75288,9 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -75296,6 +75303,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid319211 @@ -75331,8 +75339,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid307465 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid320743 @@ -75418,7 +75426,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid321075 @@ -75467,6 +75474,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid321115 @@ -75496,7 +75504,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid318627 @@ -75508,7 +75515,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid307455 @@ -75617,12 +75623,11 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid298245 @@ -75741,8 +75746,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -75775,8 +75780,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -75788,6 +75793,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid320163 @@ -75824,6 +75830,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid318358 @@ -75852,8 +75859,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -75863,6 +75870,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid319267 @@ -75879,6 +75887,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid204 @@ -75895,20 +75904,20 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + - + - + @@ -75919,7 +75928,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid319167 @@ -75954,8 +75962,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -75977,8 +75985,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -76051,16 +76059,16 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + - + @@ -76100,6 +76108,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid286749 @@ -76187,7 +76196,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid319851 @@ -76261,6 +76269,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid318507 @@ -76291,7 +76300,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid307450 @@ -76361,6 +76369,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid318951 @@ -76426,8 +76435,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -76532,8 +76541,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -76547,7 +76556,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid316069 @@ -76560,6 +76568,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid19585 @@ -76597,7 +76606,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid26512 @@ -76638,10 +76646,10 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + - @@ -76689,7 +76697,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid316081 @@ -76712,7 +76719,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid297897 @@ -76738,7 +76744,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid286031 @@ -76801,7 +76806,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid318959 @@ -76902,7 +76906,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid319471 @@ -76934,8 +76937,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -77076,9 +77079,9 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + - @@ -77086,7 +77089,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid319351 @@ -77098,10 +77100,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid320891 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid311475 @@ -77138,8 +77138,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -77362,6 +77362,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid287018 @@ -77392,7 +77393,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid293546 @@ -77416,8 +77416,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -77508,8 +77508,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -77645,6 +77645,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid353877 @@ -77822,8 +77823,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -77934,7 +77935,6 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid320159 @@ -78107,9 +78107,9 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + @@ -78185,9 +78185,9 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + - @@ -78211,6 +78211,7 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 + _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid318455 @@ -78318,8 +78319,8 @@ _:B69dbc1feX2D64a0X2D48c2X2D9ac0X2D270d0c1b3233genid354215 - + diff --git a/src/ontology/reports/synonyms.tsv b/src/ontology/reports/synonyms.tsv index b5083ec4..7ca54a92 100644 --- a/src/ontology/reports/synonyms.tsv +++ b/src/ontology/reports/synonyms.tsv @@ -1,16 +1,16 @@ ?cls ?pred ?val ?synType "obsolete_Smith-Magenis syndrome" - "Stickler syndrome, dominant"@en "CD8_alpha-negative plasmacytoid dendritic cell" + "Stickler syndrome, dominant"@en "obsolete_neurometabolic disorder due to serine deficiency" "small integral membrane protein 9 measurement" "HEC1A" - "obsolete_zygodactyly type 2" "rho-associated protein kinase 2 measurement" "obsolete_Pilotto syndrome" - "KYSE-520" + "obsolete_zygodactyly type 2" "Nestor-Guillermo progeria syndrome" "vitamin measurement" + "KYSE-520" "adult teratoma" "PHD finger protein 6" "tibialis anterior" @@ -48,8 +48,8 @@ "1,6-anhydroglucose measurement" "Episodic flaccid weakness" "obsolete_Potocki-Shaffer syndrome" - "Hyperuricemia" "brachycephaly, trichomegaly, and developmental delay" + "Hyperuricemia" "level of dynein light chain Tctex-type 3 in blood serum" "level of max-interacting protein 1 in blood serum" "nervous system disease" @@ -140,9 +140,9 @@ "interleukin-11 measurement" "amp kinase (alpha2beta2gamma1) measurement" "obsolete_Mowat-Wilson syndrome due to a ZEB2 point mutation" - "PH and SEC7 domain-containing protein 2 measurement" "congenital entropion" "fibromyalgia" + "PH and SEC7 domain-containing protein 2 measurement" "dyskeratosis congenita" "hypertension, pregnancy-induced" "serine/threonine-protein kinase tousled-like 1" @@ -601,9 +601,9 @@ "SSR4-congenital disorder of glycosylation" "viral infectious disease, non-human animal" "CXCL11 measurement" + "saccharin measurement" "pathologic process"@en "pathological process" - "saccharin measurement" "level of protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha in blood serum" "adult choroid plexus neoplasm" "epigenetic factor" @@ -632,12 +632,12 @@ "syntaxin-4" "United Kingdom" "G0/G1 switch protein 2 measurement" - "obsolete_monosomy 9q22.3" "proteasome-associated autoinflammatory syndrome 4" - "obsolete_osteogenesis imperfecta type 3" - "obsolete_spinocerebellar ataxia type 20" + "obsolete_monosomy 9q22.3" "obsolete_metacarpal bone" + "obsolete_osteogenesis imperfecta type 3" "larval day 5" + "obsolete_spinocerebellar ataxia type 20" "mean corpuscular hemoglobin concentration" "1-palmityl-2-palmitoyl-GPC (O-16:0/16:0) measurement" "WW6" @@ -720,10 +720,10 @@ "glycine cleavage system H protein, mitochondrial" "obsolete_posterior spiracle primordium" "embryonic day 18" - "pro‐interleukin‐16 measurement"@en - "x-linked ichthyosis with steryl-sulfatase deficiency" "Medicago truncatula" + "pro‐interleukin‐16 measurement"@en "UPF0193 protein EVG1" + "x-linked ichthyosis with steryl-sulfatase deficiency" "obsolete_paraxial mesoderm" "CCL24 measurement" "callus formation" @@ -763,11 +763,11 @@ "mood disorder" "PDZ and LIM domain protein 4" "mesenchymal hamartoma" - "Drosophila melanogaster cell line" "obsolete_progressive non-fluent aphasia" + "Drosophila melanogaster cell line" "corpus callosum posterior volume measurement"@en - "AG11395 cell" "profilin-1" + "AG11395 cell" "obsolete_autosomal dominant secondary polycythemia" "congenital hypothalamic hamartoma syndrome" "combined pituitary hormone deficiencies, genetic form" @@ -788,11 +788,11 @@ "Lower limb deficiency - hypospadias" "NCI-H295R" "(10Z)-heptadecenoate" - "Larsen-like osseous dysplasia - short stature" "phencyclidine abuse" "NHDL cholesterol" "integral membrane protein DGCR2/IDD" "alcohol abuse" + "Larsen-like osseous dysplasia - short stature" "indeterminate sex and/or pseudohermaphroditism" "bronchiectasis with or without elevated sweat chloride 3" "male reproductive organ" @@ -816,8 +816,8 @@ "hereditary vs non-hereditary etiology" "HepG3" "obsolete_PHACE syndrome" - "Foveal hypoplasia - presenile cataract" "NCI-H157" + "Foveal hypoplasia - presenile cataract" "Quartz-seq" "suicide behaviour" "basic leucine zipper transcriptional factor ATF-like 3" @@ -840,8 +840,8 @@ "poliovirus seropositivity" "phosphatidylcholine diacyl C34:1 measurement" "dirofilariasis" - "CBA/CaJ" "level of Phosphatidylethanolamine (18:0_0:0) in blood serum" + "CBA/CaJ" "Crane-Heise syndrome" "CD8_alpha-positive plasmacytoid dendritic cell" "antenatal Bartter syndrome"@en @@ -929,8 +929,8 @@ "NCI-H920" "ILSXISS117/TejJ" "obsolete_trunk mesoderm anlage" - "obsolete_response to silica exposure" "spontaneous preterm birth" + "obsolete_response to silica exposure" "level of cysteine-rich tail protein 1 in blood serum" "transmembrane protein C1orf162" "interleukin 16 measurement" @@ -953,8 +953,8 @@ "amphiregulin measurement" "digit length ratio" "mean reticulocyte volume"@en - "Val cell" "amelocerebrohypohidrotic syndrome" + "Val cell" "NADH-cytochrome b5 reductase 2" "level of beta-defensin 129 in blood serum" "otospondylomegaepiphyseal dysplasia, autosomal recessive" @@ -974,8 +974,8 @@ "obsolete_qualitative or quantitative defects of TRIM32" "laminin subunit gamma-1" "14q12 microdeletion syndrome" - "breast cyst" "generalized basaloid follicular hamartoma syndrome" + "breast cyst" "ephrin type-a receptor 3 measurement" "obsolete_Pearson syndrome" "colobomatous microphthalmia-rhizomelic dysplasia syndrome" @@ -984,8 +984,8 @@ "importin subunit alpha-3" "Ras-related protein Rab-23" "uniconazole" - "1-(1-enyl-oleoyl)-GPE (P-18:1) measurement" "HUES64-derived CD184+" + "1-(1-enyl-oleoyl)-GPE (P-18:1) measurement" "level of smad1 in blood serum" "level of dysbindin domain-containing protein 1 in blood serum" "D-Glucopyranose measurement" @@ -1026,10 +1026,10 @@ "development or differentiation design" "Gynatresia" "VACTERL/vater association" + "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy" "x-linked warfarin sensitivity"@en "talin-2 measurement" "tRNA-specific adenosine deaminase 2" - "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy" "level of IgG receptor FcRn large subunit p51 in blood serum" "Actinobacillus pleuropneumoniae serovar 1 str. 4074" "short stature due to growth hormone qualitative anomaly" @@ -1076,11 +1076,11 @@ "respiratory quotient" "obsolete_Kallmann syndrome" "interleukin (Homo sapiens)" - "sialidosis type II" "obsolete_congenital genu recurvatum" "GM17116" "aceruloplasminemia" "SPLiT-seq" + "sialidosis type II" "chilblain lupus 1" "ichthyosis-cheek-eyebrow syndrome" "lacrimal gland" @@ -1097,12 +1097,12 @@ "haltere" "MEL-JUSO" "guanidinoacetate methyltransferase deficiency" - "orthopedic nursing" "Paget disease of the penis" - "mosaic" "NCI-H929" + "mosaic" "posterior cingulate cortex" "obsolete_dorsal anterior lateral line ganglion" + "orthopedic nursing" "spastic ataxia 7" "hearing disorder" "vitamin B12 measurement" @@ -1234,17 +1234,17 @@ "level of homeobox protein goosecoid-2 in blood serum" "Chrysolophus pictus" "stachydrine measurement" - "prostate gland" "lymphocyte antigen 86 measurement" + "prostate gland" "level of folate receptor alpha in blood serum" "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations" "subarachnoid space" "Mietens syndrome" "Ma-Mel-11 cell" "obsolete_Non-syndromic congenital cataract" - "library preparation" "MHC class II deficiency" "cardiac valvular defect" + "library preparation" "neuromyelitis optica" "interferon alpha-5" "ILSXISS99/TejJ" @@ -1309,13 +1309,13 @@ "protein HID1" "obsolete_Tay-Sachs disease, b variant, infantile form" "bronchogenic carcinoma" - "N-palmitoyl-sphingadienine (d18:2/16:0) measurement" "caffeine" "obsolete_thrombophlebitis" - "bone marrow proteoglycan" + "N-palmitoyl-sphingadienine (d18:2/16:0) measurement" "larval day 6" - "facioscapulohumeral muscular dystrophy" + "bone marrow proteoglycan" "lipid measurement" + "facioscapulohumeral muscular dystrophy" "cyclin-dependent kinase 4 inhibitor B measurement" "obsolete asymptomatic COVID-19 infection" "egg allergy" @@ -1326,11 +1326,11 @@ "latissimus dorsi" "cryopyrin-associated periodic syndrome" "heterotaxy, visceral, 5, autosomal" - "potassium voltage-gated channel subfamily F member 1 measurement" "patched domain-containing protein 3" + "potassium voltage-gated channel subfamily F member 1 measurement" "X-11374 measurement" - "obsolete_non-distal trisomy 13q" "cholesterol esters in large HDL measurement" + "obsolete_non-distal trisomy 13q" "HT144" "level of beta-galactoside alpha-2,6-sialyltransferase 1 in blood serum" "DnaJ homolog subfamily C member 12" @@ -1443,8 +1443,8 @@ "suicide" "Wagner disease" "mediastinal malignant lymphoma" - "oculopharyngodistal myopathy 2" "CLN2 disease" + "oculopharyngodistal myopathy 2" "X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis" "ATP-dependent NAD(P)H-hydrate dehydratase activity" "pistillate inflorescence" @@ -1467,8 +1467,8 @@ "ADP-ribosylation factor 1" "level of glycine N-acyltransferase in blood serum" "obsolete_childhood-onset nemaline myopathy" - "level of telomeric repeat-binding factor 1 in blood serum" "absent or delayed speech development" + "level of telomeric repeat-binding factor 1 in blood serum" "level of vesicle-associated membrane protein 2 in blood serum" "HOMA-B" "GM17785" @@ -1517,10 +1517,10 @@ "respiratory syncytial virus seropositivity" "flavin adenine dinucleotide" "autosomal recessive axonal hereditary motor and sensory neuropathy"@en + "IgG fucosylation measurement" "multiple epiphyseal dysplasia" "26S proteasome non-ATPase regulatory subunit 4" "BDC2.5/NOD" - "IgG fucosylation measurement" "trait in response to melphalan" "ventricular septal defect 2" "prostate leiomyoma" @@ -1615,14 +1615,14 @@ "obsolete_lethal Larsen-like syndrome" "level of indole-3-butyric acid in blood" "level of calcineurin B homologous protein 3 in blood serum" - "obsolete_20p13 microdeletion syndrome" "Muscular pseudohypertrophy - hypothyroidism" "level of platelet factor 4 variant in blood serum" + "obsolete_20p13 microdeletion syndrome" "NOF151" "endocarditis" - "free cholesterol in very large VLDL measurement " "obsolete_hippocampus CA2" "Neurodegeneration" + "free cholesterol in very large VLDL measurement " "organic cation measurement"@en "HEY" "allergic rhinitis" @@ -1638,10 +1638,10 @@ "HUES65" "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase measurement" "macular dystrophy with central cone involvement" - "obsolete_pontocerebellar hypoplasia type 1" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2J" - "interleukin 17 measurement" + "obsolete_pontocerebellar hypoplasia type 1" "Bifid ribs" + "interleukin 17 measurement" "biopsy" "base unit" "alanine--glyoxylate aminotransferase" @@ -1666,8 +1666,8 @@ "level of ribonucleoside-diphosphate reductase large subunit in blood serum" "serine protease inhibitor Kazal-type 1" "cardiomyopathy-hypotonia-lactic acidosis syndrome" - "phosphatidylcholine diacyl C34:2 measurement" "Persistent pupillary membrane" + "phosphatidylcholine diacyl C34:2 measurement" "obsolete_German syndrome" "Maternal diabetes" "laminin subunit gamma-2" @@ -1713,9 +1713,9 @@ "mal de Meleda" "autosomal dominant hypocalcemia" "MYH7-related skeletal myopathy" - "GDP-fucose protein O-fucosyltransferase 1 measurement" "dihomo-linolenoylcarnitine (C20:3n3 or 6) measurement" "von Hippel-Lindau-like protein" + "GDP-fucose protein O-fucosyltransferase 1 measurement" "atypical hemolytic-uremic syndrome with thrombomodulin anomaly" "Monoamine oxidase A deficiency" "protein enabled" @@ -1729,8 +1729,8 @@ "Adenomyosis" "lysosome" "X-25790 measurement" - "level of protein FAM229A in blood serum" "Spondylocostal dysostosis - hypospadias - intellectual disability" + "level of protein FAM229A in blood serum" "Hammer Toe Syndrome" "GM17259" "tapasin measurement" @@ -1758,10 +1758,10 @@ "N-methyltaurine measurement" "level of vesicle-associated membrane protein 7 in blood serum" "stearoyl-arachidonoyl-glycerophosphocholine (2) measurement" - "uterine disorder" "placental retention" - "NIH3T3" + "uterine disorder" "disorder of lectin complement activation pathway" + "NIH3T3" "level of aldo-keto reductase family 1 member C3 in blood serum" "obsolete_ventral anterior lateral line ganglion" "seed" @@ -1906,11 +1906,11 @@ "Esophageal stricture" "sexual dimorphism measurement"@en "lymphotoxin alpha1:beta2 measurement" + "L-Phenylalanine measurement" "blepharophimosis - intellectual disability syndrome, Ohdo type" "penis verrucous carcinoma" - "L-Phenylalanine measurement" - "X-linked intellectual disability, Porteous type" "ocular toxoplasmosis" + "X-linked intellectual disability, Porteous type" "level of DNA-binding protein inhibitor ID-2 in blood serum" "Hematological disorder with renal involvement" "level of cyclic AMP-responsive element-binding protein 3-like protein 2 in blood serum" @@ -1922,10 +1922,10 @@ "Acute" "peroxisome biogenesis disorder 8A (Zellweger)" "benign neoplasm of corpus uteri" + "pancreas volume" "level of peptidyl-prolyl cis-trans isomerase FKBP3 in blood serum" "immunodeficiency 70" "CD83 antigen measurement" - "pancreas volume" "disorder of galactose metabolism" "C-Cell Hyperplasia" "level of norrin in blood serum" @@ -1957,20 +1957,20 @@ "response to thioamide" "clathrin light chain A" "Abnormal form of the vertebral bodies" + "obsolete_partial duplication of chromosome 16" "obsolete_interleukin 1 beta measurement" "Spartina anglica" - "obsolete_partial duplication of chromosome 16" "level of inositol polyphosphate 4-phosphatase type II in blood serum" "X-21319 measurement" "Primary Peritoneal Serous Adenocarcinoma" "obsolete_subthalamic nucleus" "apoplasm" - "Erythema palmaris hereditarium" - "5-dodecenoate 12:1n7 measurement" "histone-lysine N-methyltransferase 2D" "palatine uvula" + "Erythema palmaris hereditarium" "acth-independent macronodular adrenal hyperplasia 2" "Joubert syndrome 37" + "5-dodecenoate 12:1n7 measurement" "adult kidney Wilms tumor" "attention deficit hyperactivity disorder" "mesenchyme pectoral fin" @@ -1994,15 +1994,15 @@ "X-11381 measurement" "integrin beta-6" "obsolete_mosaic trisomy 14" - "adenosine 3'-phospho 5'-phosphosulfate transporter 2 measurement" "methanethiol oxidase activity" "level of defensin beta 4A in blood serum" + "adenosine 3'-phospho 5'-phosphosulfate transporter 2 measurement" "DnaJ homolog subfamily C member 15" "glucose-to-mannose ratio" "isolated Dandy-Walker malformation without hydrocephalus" "putamen measurement" - "hindgut proper primordium" "uridine measurement"@en + "hindgut proper primordium" "amino acid measurement" "vagal placode 3" "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3" @@ -2018,8 +2018,8 @@ "squamous cell carcinoma of colon" "childhood acute megakaryoblastic leukemia" "proteoglycan 3" - "hypertrophic cardiomyopathy 17" "Bubalus bubalis" + "hypertrophic cardiomyopathy 17" "short stature due to primary acid-labile subunit deficiency" "emphysematous cholecystitis" "tracheal mucosa" @@ -2038,8 +2038,8 @@ "potassium voltage-gated channel subfamily G member 4 measurement" "Schistosoma mansoni" "HT55" - "vascular endothelial growth factor C measurement" "obsolete_syndromic ankyloblepharon" + "vascular endothelial growth factor C measurement" "SARS coronavirus" "autosomal recessive polycystic kidney disease" "bifunctional purine biosynthesis protein ATIC" @@ -2126,8 +2126,8 @@ "generation of precursor metabolites and energy" "muscularis mucosa" "Picornaviridae infectious disease" - "protein unc-13 homolog A" "COLO 680N" + "protein unc-13 homolog A" "episodic ataxia, type 9" "orbital cellulitis" "ADP-ribosylation factor 3" @@ -2210,9 +2210,9 @@ "level of phosphoribosyl pyrophosphate synthase-associated protein 1 in blood serum" "dilated cardiomyopathy 1I" "NZO/HlLtJ" - "Lactobacillus plantarum WCFS1" "Axillary freckling" "Sleep abnormality" + "Lactobacillus plantarum WCFS1" "chronic liver failure" "Hypoglycemia" "level of caveolin-3 in blood serum" @@ -2246,9 +2246,9 @@ "obsolete_AICA-ribosiduria" "illuminance unit" "level of protein canopy homolog 4 in blood serum" + "level of enoyl-CoA hydratase, mitochondrial in blood serum" "differential expression analysis data transformation"@en "differential expression analysis data transformation" - "level of enoyl-CoA hydratase, mitochondrial in blood serum" "TruDrop" "cardiac arrest" "Rauch-Steindl syndrome" @@ -2264,12 +2264,12 @@ "primary organ-specific lymphoma" "obsolete_urachal cyst" "psychiatric toxicity" - "X-17162 measurement" "postaxial polydactyly" "deafness-intellectual disability, Martin-Probst type syndrome" "pyruvate kinase deficiency of red cells" "picometer" "gamma-secretase subunit PEN-2" + "X-17162 measurement" "NFU1 iron-sulfur cluster scaffold, mitochondrial" "level of Phe-Gly in blood" "COLO 741" @@ -2295,8 +2295,8 @@ "epilepsy, idiopathic generalized, susceptibility to, 6" "level of protein Frey in blood serum" "Rat-1" - "Wernicke encephalopathy" "lymphoma or leukaemia cell line" + "Wernicke encephalopathy" "2-nitrotoluene" "UPF0561 protein C2orf68" "Paramecium bursaria Chlorella virus 1" @@ -2312,9 +2312,9 @@ "pyruvate dehydrogenase complex" "GM2-ganglioside accumulation" "Fibular aplasia - ectrodactyly" + "methylsuccinoylcarnitine measurement" "chromatid break measurement" "level of 2-hydroxyacid oxidase 1 in blood serum" - "methylsuccinoylcarnitine measurement" "obsolete_X-linked hypohidrotic ectodermal dysplasia" "Upper limb defect - eye and ear abnormalities" "polybrominated biphenyl measurement" @@ -2336,14 +2336,14 @@ "level of ephrin type-B receptor 3 in blood serum" "obsolete_Double outlet right ventricle, Fallot type" "level of syntaxin-18 in blood serum" - "HGC-27" "level of RNA-binding protein Musashi homolog 2 in blood serum" "papillary urothelial neoplasm" "von Hippel-Lindau disease tumor suppressor" + "HGC-27" "tic disorder" "Severe" - "alpha-amylase 1 measurement" "HUES66" + "alpha-amylase 1 measurement" "neural cell" "D-Lactic acid measurement" "progressive familial intrahepatic cholestasis type 2" @@ -2398,10 +2398,10 @@ "adult acne" "CS57666" "glutathione synthase activity" - "Hypoplastic acetabulae" "Genetic developmental defect of the eye" - "obsolete_penis carcinoma" + "Hypoplastic acetabulae" "transmembrane protein 234 measurement" + "obsolete_penis carcinoma" "(S)-1-pyrroline-5-carboxylate" "alpha-methyl-L-dopa" "familial cystic renal disease" @@ -2415,8 +2415,8 @@ "Indian hedgehog protein" "STATseq" "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)" - "level of syntaxin-2 in blood serum" "tubular aggregate myopathy" + "level of syntaxin-2 in blood serum" "malate dehydrogenase, cytoplasmic measurement" "Megalocornea" "epidermal growth factor-like protein 6" @@ -2442,8 +2442,8 @@ "FL.02 1/2 of flowers open stage" "48,XXYY syndrome" "endometrium neoplasm" - "histone H2A type 3 measurement" "systemic mastocytosis" + "histone H2A type 3 measurement" "superficial epidermolytic ichthyosis" "PEComa" "obsolete_congenital absence/hypoplasia of fingers excluding thumb, bilateral" @@ -2459,12 +2459,12 @@ "level of histidyl-tRNA synthetase, cytoplasmic in blood serum" "level of ADP-ribosylation factor-like protein 4D in blood serum" "penis" - "Disorder of ornithine metabolism" "cutaneous Paget disease" + "Disorder of ornithine metabolism" "obsolete_NIH3T3-L1" + "postpartum hemorrhage" "aneuploidy" "obsolete_posterior lateral line ganglion" - "postpartum hemorrhage" "atelosteogenesis type I" "obsolete_congenital hereditary endothelial dystrophy type I" "nicotinic acid mononucleotide measurement" @@ -2475,9 +2475,9 @@ "obsolete_hippocampus CA3" "orotic acid measurement"@en "obsolete_ventral midline neuron" - "obsolete_Mobius syndrome" "cardiovascular event measurement" "primary systemic mycosis" + "obsolete_Mobius syndrome" "Leber congenital amaurosis 10" "Immunodeficiency due to absence of thymus" "blood cell (sensu Nematoda and Protostomia)" @@ -2519,8 +2519,8 @@ "obsolete abdominal and pelvic region disorder" "kidney volume" "ephrin type-b receptor 4 measurement" - "disease characteristic" "kidney" + "disease characteristic" "CD4-positive, alpha-beta memory T cell" "obsolete_arthrogryposis-like syndrome" "X-12283 measurement" @@ -2627,15 +2627,15 @@ "splicing factor 45" "COM-3 cell" "bulimia nervosa" - "bis(5'-adenosyl)-triphosphatase" "mixed testicular germ cell cancer" + "bis(5'-adenosyl)-triphosphatase" "MAB-seq" "obsolete_fluid shear stress" "obsolete_congenital deformities of fingers" "Entamoeba histolytica" "extensor tendons of finger anomalies" - "obsolete_metachromatic leukodystrophy, adult form" "natural killer cell activation" + "obsolete_metachromatic leukodystrophy, adult form" "myristoyl dihydrosphingomyelin (d18:0/14:0) measurement" "anterior lateral line placode" "melanoma, cutaneous malignant, susceptibility to, 9" @@ -2688,13 +2688,13 @@ "lethal recessive chondrodysplasia" "obsolete_synovial membrane" "obsolete synapse part" - "childhood acute monocytic leukemia" "tonsillar ring" "Venous thrombosis" + "childhood acute monocytic leukemia" "level of immunoglobulin heavy constant gamma 4 in blood serum" "level of Axin-2 in blood serum" - "orotate" "functional laterality" + "orotate" "larval day 21-29" "triglycerides to total lipids in small VLDL percentage " "KP-3" @@ -2785,8 +2785,8 @@ "SK-MEL-2" "familial adenomatous polyposis 1" "chronic endometritis" - "pro-neuregulin-2, membrane-bound isoform measurement" "multifocal pattern dystrophy simulating fundus flavimaculatus" + "pro-neuregulin-2, membrane-bound isoform measurement" "level of GSK3B-interacting protein in blood serum" "acanthosis nigricans" "adrenal gland" @@ -2794,9 +2794,9 @@ "level of folate receptor gamma in blood serum" "hair follicle neoplasm" "Macular coloboma - cleft palate - hallux valgus" - "blood coagulation disease" "obsolete_embryonic hypocerebral ganglion" "Beemer-Ertbruggen syndrome" + "blood coagulation disease" "naringenin 7-glucuronide measurement" "Autosomal recessive spastic ataxia of Charlevoix-Saguenay" "ADP-dependent glucokinase measurement" @@ -2880,13 +2880,13 @@ "HELP-Seq" "obsolete_elbow" "CD34-positive, GlyA-negative erythroid progenitor cell" + "obsolete_Wilson disease" "obsolete_ALG1-CDG" "POU domain, class 2, transcription factor 1 measurement" "SNP array" "pemphigus herpetiformis" "protein kish-B" "chromosome 19p13.13 deletion syndrome" - "obsolete_Wilson disease" "forkhead box protein C2" "huH-1" "ubiquitin carboxyl-terminal hydrolase 2" @@ -2897,8 +2897,8 @@ "pregnancy associated osteoporosis" "Lake Victoria marburgvirus - Angola2005" "protein S100-A13 measurement" - "cancer or benign tumor" "Ptosis - syndactyly - learning difficulties" + "cancer or benign tumor" "ADULT syndrome" "versican core protein measurement" "Lobular Breast Carcinoma In Situ" @@ -2940,8 +2940,8 @@ "Charcot-Marie-Tooth disease type 2B1" "ovarian disease" "pregnancy-specific beta-1-glycoprotein 1" - "gingiva" "Rare genetic cardiac disease" + "gingiva" "complement C1s subcomponent measurement" "indoleacetoylcarnitine measurement" "C-X-C motif chemokine 3" @@ -3045,10 +3045,10 @@ "Anaplasma phagocytophilum" "germ cell tumor" "level of methyl-CpG-binding protein 2 in blood serum" - "adult T acute lymphoblastic leukemia" "Meningitis" "obsolete_basal ganglion" "Hypertrichosis" + "adult T acute lymphoblastic leukemia" "classic lissencephaly" "ceramide synthase 5" "general transcription factor II-I measurement" @@ -3133,10 +3133,10 @@ "Abnormal thumb morphology" "very low-density lipoprotein receptor" "coiled-coil domain-containing protein 90B, mitochondrial" - "butyrophilin subfamily 2 member A2" "GATA2 deficiency with susceptibility to MDS/AML" - "dyskeratosis congenita and related telomere biology disorder" + "butyrophilin subfamily 2 member A2" "level of defensin beta 136 in blood serum" + "dyskeratosis congenita and related telomere biology disorder" "thymus hyperplasia" "(R)-2-hydroxyoctadecanoate" "coagulation factor XI" @@ -3250,9 +3250,9 @@ "obsolete_Hearing Loss, Noise-Induced" "level of visual system homeobox 1 in blood serum" "obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease" - "cAMP-dependent protein kinase type I-beta regulatory subunit measurement" "phosphatidylcholine 36:0 measurement" "MIA Paca-2" + "cAMP-dependent protein kinase type I-beta regulatory subunit measurement" "interleukin-1 beta (Homo sapiens)" "glutamine metabolic process" "replication initiator 1 measurement" @@ -3336,14 +3336,14 @@ "ulcer disease" "naive T cell" "severe combined immunodeficiency due to LAT deficiency" + "obsolete_Holmes-Gang syndrome" "pancreatic insulinoma" "postoptic commissure" "AG07139" - "obsolete_Holmes-Gang syndrome" "testican-1 measurement" "1,4-dioxane" - "triglycerides to total lipids in very large HDL percentage " "obsolete_distal symphalangism" + "triglycerides to total lipids in very large HDL percentage " "KP-4" "podocyte" "obsolete_velo-facial-skeletal syndrome" @@ -3453,8 +3453,8 @@ "history of neurodevelopmental disorder"@en "lymphotoxin-alpha measurement" "neutrophil immunodeficiency syndrome" - "L-Proline measurement" "X-linked intellectual disability, Golabi-Ito-hall type" + "L-Proline measurement" "12q15q21.1 microdeletion syndrome" "adult-onset autosomal dominant demyelinating leukodystrophy" "Behr syndrome" @@ -3708,11 +3708,11 @@ "serotonergic drug" "ankyrin repeat domain-containing protein 40" "ADP-ribosylation factor 5" - "obsolete_pseudopseudohypoparathyroidism" "arteriosclerosis" "osteocalcin measurement"@en "methyl cellulose" "Candida dubliniensis" + "obsolete_pseudopseudohypoparathyroidism" "dorsal root ganglia homeobox protein" "amelogenesis imperfecta type 1G" "O-[(4Z)-decenoyl]carnitine" @@ -3733,8 +3733,8 @@ "level of inositol-trisphosphate 3-kinase C in blood serum" "Restrictive external ophthalmoplegia" "obsolete_microcephaly-thin corpus callosum-intellectual disability syndrome" - "obsolete_Wiskott-Aldrich syndrome" "level of N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 in blood serum" + "obsolete_Wiskott-Aldrich syndrome" "obsolete_brain tumor glioblastoma" "polydactyly of a triphalangeal thumb" "level of immunoglobulin-binding protein 1 in blood serum" @@ -3844,13 +3844,13 @@ "Listeria monocytogenes serotype 4b str. F2365" "tuberculoid leprosy" "trans-2-hexenoylglycine measurement" - "MERRF" "uterine corpus adenosarcoma" "Isolated cytochrome C oxidase deficiency" "abnormal paneth cell measurement" "mucin-16" "Rho-related GTP-binding protein RhoQ" "contracture" + "MERRF" "hereditary kidney oncocytoma" "myosin regulatory light chain 11" "vimentin-type intermediate filament-associated coiled-coil protein" @@ -4092,8 +4092,8 @@ "obsolete_histiocytoid cardiomyopathy" "calcium/calmodulin-dependent protein kinase type 1 measurement" "obsolete_spinocerebellar ataxia type 17" - "Dark agouti" "platelet-derived growth factor receptor-like protein" + "Dark agouti" "hemoglobin M disease" "Optic atrophy-intellectual disability syndrome" "single cell nucleic acid sequencing protocol" @@ -4157,9 +4157,9 @@ "Sheldon-hall syndrome" "oxylipin" "striatonigral degeneration" - "progeroid features-hepatocellular carcinoma predisposition syndrome" "4-(4-Hydroxyphenyl)-2-butanol" "carpal tunnel syndrome" + "progeroid features-hepatocellular carcinoma predisposition syndrome" "MKN28" "glycine betaine" "spermatogenic failure 64" @@ -4243,9 +4243,9 @@ "myopathy" "obsolete_ascending colon" "growth condition design" + "obsolete_familial isolated arrhythmogenic ventricular dysplasia, left dominant form" "microcephaly with lissencephaly and/or hydranencephaly" "bathing suit ichthyosis" - "obsolete_familial isolated arrhythmogenic ventricular dysplasia, left dominant form" "metastatic malignant neoplasm in the eye" "malignant cardiac germ cell tumor" "pre-mRNA-processing factor 6 measurement" @@ -4323,8 +4323,8 @@ "AIDS related complex" "transmembrane protease serine 11D" "diacylglycerol 36:5 measurement" - "free cholesterol in HDL measurement " "beta-thalassemia HBB/LCRB" + "free cholesterol in HDL measurement " "umbilical vein" "Hyperphosphatemia" "Niemann-Pick disease type E" @@ -4389,8 +4389,8 @@ "HiTS-Flip" "Perrault syndrome 1" "age of onset of myopia" - "GM17811" "obsolete_X-linked neurodegenerative syndrome, Bertini type" + "GM17811" "obsolete_sclerosteosis" "S-adenosylhomocysteine hydrolase-like protein 1" "pregnancy-specific beta-1-glycoprotein 2 measurement" @@ -4413,8 +4413,8 @@ "non-typhoidal Salmonella bacteremia" "blastic plasmacytoid dendritic cell neoplasm" "obsolete_lethal occipital encephalocele-skeletal dysplasia syndrome" - "gliosarcoma" "developmental and epileptic encephalopathy 97" + "gliosarcoma" "Cutaneous Follicular Lymphoma" "non-syndromic limb reduction defect" "obsolete_double outlet right ventricle with non-committed subpulmonary ventricular septal defect" @@ -4502,8 +4502,8 @@ "CV-1" "autosomal recessive distal renal tubular acidosis" "multinuclear odontoclast" - "glutamate dehydrogenase 1, mitochondrial" "1-palmitoyl-2-dihomo-linolenoyl-GPE (16:0/20:3) measurement" + "glutamate dehydrogenase 1, mitochondrial" "benzoic acid" "KARPAS 231" "leukocyte-specific transcript 1 protein measurement" @@ -4540,9 +4540,9 @@ "genotoxic compound exposure measurement"@en "Pongo abelii" "butan-1-ol" - "ubiquitin-conjugating enzyme E2 D4 measurement" "obsolete_nucleus accumbens shell" "TPT1-like protein (human)" + "ubiquitin-conjugating enzyme E2 D4 measurement" "pantothenic acid measurement"@en "obsolete_embryonic proventriculus inner layer" "papillary hidradenoma" @@ -4638,9 +4638,9 @@ "Bardet-Biedl syndrome 15" "vinculin measurement" "retinaldehyde-binding protein 1 measurement" + "ephrin-A3 measurement" "cortisone reductase deficiency" "obsolete progressive cerebello-cerebral atrophy" - "ephrin-A3 measurement" "programmed death-ligand 1 measurement" "obsolete inherited tremor disorder" "Galloway-Mowat syndrome" @@ -4661,9 +4661,9 @@ "autosomal dominant nonsyndromic hearing loss 3A" "OE21" "obsolete_Axenfeld anomaly" - "p-coumaroyl vitisin A measurement" "epidermal growth factor receptor" "rostral blood island" + "p-coumaroyl vitisin A measurement" "Arthroderma cajetani" "activated CD8-positive, alpha-beta T cell" "bone morphogenetic protein 15" @@ -4702,8 +4702,8 @@ "ichthyosis linearis circumflexa" "mitochondrial DNA depletion syndrome 13" "Pancreatic insufficiency - anemia - hyperostosis" - "regulation of mitotic nuclear division" "level of serine protease inhibitor Kazal-type 5 in blood serum" + "regulation of mitotic nuclear division" "lower extremity fracture" "oxypurinol measurement" "Hordeolum" @@ -4752,9 +4752,9 @@ "Polyneuropathy - hand defect" "obsolete_X-linked Emery-Dreifuss muscular dystrophy" "Hypertelorism - hypospadias - polysyndactyly syndrome" + "Hereditary proximal myopathy with early respiratory failure" "Müllerian derivatives - lymphangiectasia - polydactyly" "autosomal recessive osteopetrosis 2" - "Hereditary proximal myopathy with early respiratory failure" "level of polyadenylate-binding protein 5 in blood serum" "thyroid hormone receptor alpha measurement" "Hs 695T" @@ -4763,9 +4763,9 @@ "Immunodeficiency syndrome with hypopigmentation" "HCC0033" "obsolete_flag leaf" + "Medullary Cystic Kidney Disease Type I" "CME-W1-Cl.8+" "mimecan" - "Medullary Cystic Kidney Disease Type I" "level of a disintegrin and metalloproteinase with thrombospondin motifs 6 in blood serum" "psychosexual disorder" "ileum" @@ -4802,8 +4802,8 @@ "O-octanoyl-D-carnitine" "Rare thrombotic disorder due to a constitutional coagulation factors defect" "trigeminal neural crest" - "Saccharomyces bayanus MCYC 623" "Human herpesvirus 1" + "Saccharomyces bayanus MCYC 623" "megacystis-microcolon-intestinal hypoperistalsis syndrome 2" "basal cell carcinoma, susceptibility to, 7" "DNA damage-inducible transcript 4 protein" @@ -4818,9 +4818,9 @@ "Illumina Genome Analyzer IIx standard manufacturer's protocol" "Cleft mandible" "Autosomal dominant spastic paraplegia type 19" - "empty sella syndrome" "cocaine" "level of cyclin-dependent kinase 2 in blood serum" + "empty sella syndrome" "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" "protein HEXIM2" "Echinochloa glabrescens" @@ -4837,14 +4837,14 @@ "frontotemporal dementia and/or amyotrophic lateral sclerosis" "Malignant hyperthermia" "obsolete_autosomal recessive cutis laxa type 2A" - "L-Saccharopine measurement" "vestibular disease" "cardiac valve" "vasculature of liver" "obsolete Impaired social interactions" "iPS-27e" - "WNT1-inducible-signaling pathway protein 1 measurement" + "L-Saccharopine measurement" "Abnormal circulating thyroid hormone concentration" + "WNT1-inducible-signaling pathway protein 1 measurement" "obsolete fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency" "vasodilator agent" "pelvis-shoulder dysplasia" @@ -4859,8 +4859,8 @@ "level of Fanconi anemia group F protein in blood serum" "palmitoleoyl-oleoyl-glycerol (16:1/18:1) [1] measurement" "pimelate(2-)" - "D-glucuronyl C5-epimerase measurement" "monophasic synovial sarcoma" + "D-glucuronyl C5-epimerase measurement" "chlorpyrifos measurement"@en "pancreas fat measurement" "glycogen storage disease due to acid maltase deficiency, infantile onset" @@ -4890,8 +4890,8 @@ "annexin A10 measurement" "3'(2'),5'-bisphosphate nucleotidase 1" "trafficking protein particle complex subunit 2" - "level of hepatocyte growth factor-regulated tyrosine kinase substrate in blood serum" "pravastatin" + "level of hepatocyte growth factor-regulated tyrosine kinase substrate in blood serum" "phosphatidylcholine O-36:4" "clusterin-associated protein 1" "level of BolA-like protein 2 in blood serum" @@ -4942,8 +4942,8 @@ "O-oleoylcarnitine" "chromoblastomycosis" "obsolete_congenital trochlear nerve palsy" - "Phe-Gly" "childhood T acute lymphoblastic leukemia" + "Phe-Gly" "autoimmune myocarditis" "protein O-glucosyltransferase 3" "human herpesvirus 8-related tumor" @@ -4991,10 +4991,10 @@ "microcephaly-micromelia syndrome" "polyunsaturated fatty acid lipoxygenase ALOX15B" "Pan troglodytes troglodytes" + "Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation" "non-POU domain-containing octamer-binding protein" "3-mercaptopyruvate sulfurtransferase" "level of (5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol in blood serum" - "Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation" "diacylglycerol 38:3 measurement" "rhizomelic limb shortening with dysmorphic features" "TATL-seq" @@ -5078,8 +5078,8 @@ "inclusion body myopathy with Paget disease of bone and frontotemporal dementia" "response to lapatinib" "leucine-rich repeat transmembrane protein FLRT3 measurement" - "5,6-dihydroxyindole-2-carboxylic acid oxidase" "cystitis" + "5,6-dihydroxyindole-2-carboxylic acid oxidase" "facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome" "tumor necrosis factor receptor superfamily member 3" "age of onset of refractive error" @@ -5089,9 +5089,9 @@ "sphinganine" "GTP-binding protein GEM" "pregnancy-specific beta-1-glycoprotein 6 measurement" + "nerve conduction velocity" "Smooth philtrum" "SM1" - "nerve conduction velocity" "Abnormal erythrocyte morphology" "dilated cardiomyopathy 1GG" "obsolete_fragile X syndrome" @@ -5138,10 +5138,10 @@ "Poppelsdorf ecotype" "obsolete_Moyamoya disease" "Congenital muscular dystrophy due to dystroglycanopathy" + "triacylglycerol 56:8 measurement"@en "breast invasive ductal carcinoma cell" "FL.00 first flower(s) open stage" "2-hydroxyacid oxidase 1" - "triacylglycerol 56:8 measurement"@en "obsolete_coronary artery" "obsolete_Bardet-Biedl syndrome" "RCC-4 cell" @@ -5192,10 +5192,10 @@ "level of semaphorin-4B in blood serum" "COLO 849" "obsolete_rhizomelic dysplasia, Patterson-Lowry type" - "Burkholderia thailandensis" "risk-taking behaviour" - "cirrhosis of liver" + "Burkholderia thailandensis" "infectious ectromelia" + "cirrhosis of liver" "cutaneous focal mucinosis" "level of MORF4 family-associated protein 1-like 1 in blood serum" "thrombocytopenia 1" @@ -5388,12 +5388,12 @@ "fulminant type 1 diabetes" "obsolete_autosomal recessive multiple pterygium syndrome" "pelvis bone mineral density"@en - "saturated fatty acids measurement " "level of protein Spindly in blood serum" "SchC6pf-Schulz-Passarge syndrome" + "saturated fatty acids measurement " "phosphatidylcholine O-30:0" - "multiple bone fractures" "Aplasia/hypoplasia of the femur" + "multiple bone fractures" "level of serine protease inhibitor Kazal-type 13 in blood serum" "familial primary localized cutaneous amyloidosis" "phenylalanine-d8 measurement" @@ -5438,8 +5438,8 @@ "response to interferon" "Leber congenital amaurosis 2" "MethylCap-Seq" - "future brain" "obsolete_congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" + "future brain" "Melospiza melodia" "isolated congenital hypoglossia/aglossia" "hypospadias" @@ -5483,8 +5483,8 @@ "retinaldehyde-binding protein 1" "ephrin type-A receptor 6" "pulsed doppler echocardiography" - "cholesterol to total lipids in large LDL percentage " "lower epidermis" + "cholesterol to total lipids in large LDL percentage " "level of RELT-like protein 2 in blood serum" "urine protein measurement" "gonad primordium" @@ -5553,9 +5553,9 @@ "phosphopantothenoylcysteine decarboxylase measurement" "mutARS-Seq" "level of acyl-coenzyme A thioesterase THEM4 in blood serum" + "Gyrate atrophy of choroid and retina" "Choroideremia - deafness - obesity" "UDP-glucuronosyltransferase 1-6" - "Gyrate atrophy of choroid and retina" "GM17145" "glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form" "level of protein N-terminal glutamine amidohydrolase in blood serum" @@ -5575,8 +5575,8 @@ "obsolete_osteochondrosis of genetic origin" "N(2),N(2)-dimethylguanosine" "level of lengsin in blood serum" - "Porphyrinuria" "Dilated cardiomyopathy" + "Porphyrinuria" "immature Vgamma2-positive fetal thymocyte" "capillary infantile hemangioma" "obsolete_Hypermethioninemia due to glycine N-methyltransferase deficiency" @@ -5586,8 +5586,8 @@ "disorder of glyoxylate metabolism" "Renal Angiomyoadenomatous Tumor" "obsolete_non-acquired pituitary hormone deficiency" - "phosphoserine measurement" "transmembrane protein 190" + "phosphoserine measurement" "AP-4 complex accessory subunit tepsin measurement" "5-methylthioadenosine (MTA) measurement" "nucleosome-remodeling factor subunit BPTF" @@ -5603,8 +5603,8 @@ "blepharophimosis-impaired intellectual development syndrome" "Lacrimation abnormality" "Jeffries-Lakhani neurodevelopmental syndrome" - "level of protein Red in blood serum" "childhood T lymphoblastic lymphoma" + "level of protein Red in blood serum" "Agrotis ipsilon" "DMS153" "congenital" @@ -5731,8 +5731,8 @@ "obsolete_partial deletion of the short arm of chromosome 5" "6-phosphogluconate dehydrogenase deficiency" "clostridium phage virus seropositivity" - "level of RNA-binding protein 3 in blood serum" "mucin-like protein 1" + "level of RNA-binding protein 3 in blood serum" "level of ubiquitin-conjugating enzyme E2 variant 2 in blood serum" "gastric cardia adenocarcinoma" "obsolete_pancreatic beta cell agenesis with neonatal diabetes mellitus" @@ -5771,8 +5771,8 @@ "autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures" "sensory system" "plant growth regulator" - "Hypereosinophilic syndrome" "dystonia 31" + "Hypereosinophilic syndrome" "2-aminoadipic 2-oxoadipic aciduria" "Cystic Nephroma" "distal portion of anterior interventricular branch of left coronary artery" @@ -5785,22 +5785,22 @@ "response to 5-fluorouracil" "isoeugenol sulfate measurement" "negative regulation of sensory perception of pain" - "10-undecenoate 11:1n1 measurement" "Spondyloepiphyseal dysplasia" + "10-undecenoate 11:1n1 measurement" "obsolete_familial clubfoot due to 5q31 microdeletion" "obsolete_Sotos syndrome" "obsolete PIK3CA-related overgrowth syndrome" "adrenomyodystrophy" + "obsolete_cerebrotendinous xanthomatosis" + "1-oleoylglycerol (18:1) measurement" "Gossypium hirsutum" "NT-1" "embryonic labial sensory complex" - "1-oleoylglycerol (18:1) measurement" - "insulin gene enhancer protein ISL-1" - "obsolete_cerebrotendinous xanthomatosis" "HSD10 disease" + "insulin gene enhancer protein ISL-1" "KARPAS-620" - "level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 in blood serum" "level of actin-related protein 2/3 complex subunit 3 in blood serum" + "level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 in blood serum" "level of Phosphatidylinositol (18:0_18:1) in blood serum" "trichostrongylosis" "Oncorhynchus kisutch" @@ -5854,8 +5854,8 @@ "rho guanine nucleotide exchange factor 1 measurement" "asparagylleucine measurement" "Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability" - "obsolete_pseudounicornuate uterus" "Short tarsus - absence of lower eyelashes" + "obsolete_pseudounicornuate uterus" "iPS-NIHi11" "Rare thrombotic disorder due to a constitutional platelet anomaly" "complement decay-accelerating factor measurement" @@ -5873,8 +5873,8 @@ "J-774A.1" "neuronopathy, distal hereditary motor, type 5C" "myeloid dendritic cell" - "1-pentadecanoyl-2-arachidonoyl-GPC (15:0/20:4) measurement" "SKBR3" + "1-pentadecanoyl-2-arachidonoyl-GPC (15:0/20:4) measurement" "aleutian mink disease" "HRE" "cP-RNA-Seq" @@ -5888,16 +5888,16 @@ "Cerebral visual impairment" "total iron binding capacity" "(lyso)-N-acylphosphatidylethanolamine lipase" - "obsolete_secondary dysgenetic glaucoma" + "4-androsten-3alpha,17alpha-diol monosulfate (2) measurement" "UV excision repair protein RAD23 homolog B" "benign male reproductive system neoplasm" "autosomal recessive omodysplasia" - "4-androsten-3alpha,17alpha-diol monosulfate (2) measurement" "Prominent forehead" - "obsolete_autosomal dominant hyperinsulinism due to Kir6.2 deficiency" + "obsolete_secondary dysgenetic glaucoma" "N-lignoceroyl taurine measurement" "Flexion contracture" "hepatosplenic T-cell lymphoma" + "obsolete_autosomal dominant hyperinsulinism due to Kir6.2 deficiency" "toll-like receptor 2 measurement" "anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome" "3-Indolepropionic acid to 2-Methylsuccinic acid ratio" @@ -6042,9 +6042,9 @@ "secreted frizzled-related protein 4" "Drugs affecting bone structure and mineralization use measurement" "interleukin-5 receptor subunit alpha" + "obsolete_frontonasal dysplasia" "Ovarian Leydig Cell Tumor" "Hallux valgus" - "obsolete_frontonasal dysplasia" "obsolete_juvenile Huntington disease" "apical meristem" "intellectual disability, autosomal dominant 41" @@ -6056,8 +6056,8 @@ "p-acetamidophenylglucuronide measurement" "fatty acid synthase" "obsolete_ring chromosome 20" - "self rated health" "autoimmune hemolytic anemia, cold type" + "self rated health" "level of sulfotransferase 2A1 in blood serum" "Keppen-Lubinsky syndrome" "level of ubiquilin-4 in blood serum" @@ -6095,9 +6095,9 @@ "partial duplication of the long arm of chromosome 6" "Chronic Obstructive Asthma" "obsolete_Leydig cell hypoplasia due to partial LH resistance" + "coiled-coil domain-containing protein 134 measurement" "trunk bone mineral density"@en "Nail dystrophy" - "coiled-coil domain-containing protein 134 measurement" "level of RNA-binding protein Nova-1 in blood serum" "obsolete_axial mesodermal dysplasia spectrum" "ectodermal dysplasia-sensorineural deafness syndrome" @@ -6144,10 +6144,10 @@ "microbiome measurement" "Coxa vara" "Neuroblastic Tumor" + "obsolete_Glycogen storage disease due to LAMP-2 deficiency" "level of alpha-galactosidase A in blood serum" "endocrine disruptor" "Crohn's disease" - "obsolete_Glycogen storage disease due to LAMP-2 deficiency" "coiled-coil domain-containing protein 149" "WSU-NHL" "GM11832" @@ -6168,8 +6168,8 @@ "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A" "homocitrate(2-)" "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" - "Illumina HiSeq 2000 standard manufacturer's protocol" "omacetaxine mepesuccinate" + "Illumina HiSeq 2000 standard manufacturer's protocol" "level of cyclin-dependent kinase 2-associated protein 2 in blood serum" "Autosomal recessive spastic ataxia with leukoencephalopathy" "spermatogenic failure 42" @@ -6215,12 +6215,12 @@ "level of reelin in blood serum" "urine glucose measurement" "ribonucleoside metabolic process" - "obsolete_microcephalic osteodysplastic primordial dwarfism type II" "torsion dystonia 4" "3-methyl-2-oxovalerate measurement" "thioredoxin" "Abnormality of chromosome segregation" "fetal akinesia deformation sequence" + "obsolete_microcephalic osteodysplastic primordial dwarfism type II" "R43" "palmitoyl-linoleoyl-glycerol (16:0/18:2) [2] measurement" "zinc finger protein 175 measurement" @@ -6240,8 +6240,8 @@ "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2" "electroclinical syndrome" "myocarditis" - "luminous intensity unit" "Kluver-Bucy syndrome" + "luminous intensity unit" "level of intelectin-1 in blood serum" "level of selenoprotein H in blood serum" "childhood central nervous system embryonal carcinoma" @@ -6267,8 +6267,8 @@ "level of hedgehog-interacting protein in blood serum" "leucine-rich repeat transmembrane neuronal protein 2" "obsolete_familial digital arthropathy-brachydactyly" - "level of arginine/serine-rich protein 1 in blood serum" "obsolete_saccharopinuria" + "level of arginine/serine-rich protein 1 in blood serum" "phosphoribosyl pyrophosphate synthase-associated protein 1 measurement" "level of THO complex subunit 1 in blood serum" "Cenani-Lenz syndactyly syndrome" @@ -6286,9 +6286,9 @@ "thrombopoietin receptor measurement" "acquired" "Beckwith-Wiedemann syndrome due to CDKN1C mutation" + "abdominal:gluteofemoral adipose tissue ratio measurement" "TraB domain-containing protein" "villitis" - "abdominal:gluteofemoral adipose tissue ratio measurement" "Ribo-seq" "KYSE-150" "Rap1 GTPase-GDP dissociation stimulator 1" @@ -6321,8 +6321,8 @@ "macular corneal dystrophy" "level of leucine-rich repeat-containing protein 20 in blood serum" "facial pigmentation measurement" - "obsolete_Congenital primary lymphedema" "heat shock protein beta-6" + "obsolete_Congenital primary lymphedema" "testicular carcinoma" "FG syndrome 2" "level of cyclin-dependent kinase-like 2 in blood serum" @@ -6398,8 +6398,8 @@ "non-gestational ovarian choriocarcinoma" "Salmonella enterica subsp. enterica serovar Infantis" "GM17289" - "Partial duplication of the long arm of chromosome 11" "GDP-mannose 4,6 dehydratase" + "Partial duplication of the long arm of chromosome 11" "lysM and putative peptidoglycan-binding domain-containing protein 4 measurement" "MKN74" "level of phenylalanine--tRNA ligase, mitochondrial in blood serum" @@ -6437,12 +6437,12 @@ "level of lutropin subunit beta in blood serum" "cyanine dye" "Canis lupus" + "GSK3-beta interaction protein measurement" "immature dermal dendritic cell" "obsolete_lateral cord surface glia" "B melanoma antigen 3" "F123-CASTx129" "level of killer cell immunoglobulin-like receptor 2DS2 in blood serum" - "GSK3-beta interaction protein measurement" "tumor necrosis factor measurement"@en "familial partial epilepsy" "Combined immunodeficiency T+ B+ due to partial RAG1 deficiency" @@ -6524,10 +6524,10 @@ "obsolete_acrorenal syndrome" "low-level copy number loss" "Cystic fibrosis - gastritis - megaloblastic anemia" - "pneumonia caused by chlamydia" "2-oleoylglycerol (18:1) measurement" - "viral pericarditis" "triacylglycerol 58:10 measurement"@en + "pneumonia caused by chlamydia" + "viral pericarditis" "level of actin-related protein 2/3 complex subunit 5 in blood serum" "osteoclast-stimulating factor 1" "SALK_037727" @@ -6555,9 +6555,9 @@ "erucic acid" "pulmonary aspergillosis" "ephrin type-B receptor 3 measurement" + "Autosomal recessive cerebellar ataxia - blindness - deafness" "MAX gene-associated protein" "childhood medulloblastoma" - "Autosomal recessive cerebellar ataxia - blindness - deafness" "GM12760" "diacylglycerol 38:5 measurement" "CPT-seq" @@ -6622,11 +6622,11 @@ "vestibular gland benign neoplasm" "level of NEDD8-conjugating enzyme UBE2F in blood serum" "humero-radio-ulnar synostosis, unilateral" - "Fusarium avenaceum" "Glaucoma associated with neural crest cell migration anomaly" + "Fusarium avenaceum" + "sorting nexin-17 measurement" "transcription factor IIIb 90 kda subunit measurement" "Tented upper lip vermilion" - "sorting nexin-17 measurement" "Bartter syndrome" "3-Indolepropionic acid to LysoPC 20:2 ratio" "obsolete non-syndromic limb overgrowth" @@ -6672,8 +6672,8 @@ "Tietz syndrome" "transmembrane and ubiquitin-like domain-containing protein 2 measurement" "Mitochondrial disease with peripheral neuropathy" - "partial pressure of oxygen measurement" "obsolete_thecal cell layer" + "partial pressure of oxygen measurement" "level of phospholipid transfer protein in blood serum" "EKVX" "laryngitis" @@ -6750,8 +6750,8 @@ "level of tyrosine aminotransferase in blood serum" "level of semaphorin-4F in blood serum" "hyperparathyroidism, transient neonatal" - "obsolete non-syndromic gastroduodenal malformation" "CD8-positive, alpha-beta memory T cell" + "obsolete non-syndromic gastroduodenal malformation" "rectum leiomyosarcoma" "GM14465" "HCC2157" @@ -6772,9 +6772,9 @@ "level of Phosphatidylcholine (18:1_18:2) in blood serum" "ubiquinone biosynthesis monooxygenase COQ6, mitochondrial" "pelvic vein" - "small ribosomal subunit protein eS12" "bladder hepatoid adenocarcinoma" "acute respiratory failure" + "small ribosomal subunit protein eS12" "ampulla of vater cancer" "partial duplication of the long arm of chromosome 7" "obsolete_ring chromosome 21" @@ -6828,8 +6828,8 @@ "level of 9-hydroxylinoleic acid in blood plasma" "acid-sensing ion channel 4" "3’NT method" - "level of prolyl hydroxylase EGLN3 in blood serum" "upper respiratory tract disorder" + "level of prolyl hydroxylase EGLN3 in blood serum" "long QT syndrome 5" "keratinization" "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)" @@ -6874,8 +6874,8 @@ "bladder urachal adenocarcinoma" "level of CDK5 regulatory subunit-associated protein 3 in blood serum" "3-(5-fluorouracil-1-yl)-L-alanine" - "level of inositol oxygenase in blood serum" "Blood Cell Count Ratio Measurement" + "level of inositol oxygenase in blood serum" "glucagon measurement" "intellectual disability-seizures-macrocephaly-obesity syndrome" "Ovarian Microcystic Stromal Tumor" @@ -6889,9 +6889,9 @@ "PCARE-related retinopathy" "bladder signet ring cell adenocarcinoma" "cancer aggressiveness measurement" + "obsolete_Familial aortic dissection" "glioma susceptibility 2" "myeloid leukemia factor 1" - "obsolete_Familial aortic dissection" "haemophilus influenzae seropositivity" "spermatogenic failure 51" "eukaryotic-type small ribosomal subunit protein uS11" @@ -7071,10 +7071,10 @@ "neonatal period electroclinical syndrome" "AP-2 complex subunit alpha-2" "obsolete_encephalopathy due to GLUT1 deficiency" - "Langerhans cell sarcoma" "ALS2-related motor neuron disease" "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8" "South Korea" + "Langerhans cell sarcoma" "level of protein FAM163B in blood serum" "level of selenoprotein M in blood serum" "RICC-seq" @@ -7129,8 +7129,8 @@ "neoplasm of thorax" "Abseq" "obsolete_partial duplication of chromosome 7" - "obsolete_Sandhoff disease, juvenile form" "APOBEC1 complementation factor measurement" + "obsolete_Sandhoff disease, juvenile form" "cryptophthalmia" "campesterol" "lamina-associated polypeptide 2, isoforms beta/gamma measurement" @@ -7169,10 +7169,10 @@ "obsolete_chronic hepatic porphyria" "BxPC-3" "hemangiopericytoma" - "tricuspid valve stenosis" "level of cAMP-regulated phosphoprotein 21 in blood serum" "level of Phosphatidylinositol (18:0_20:3) in blood serum" "Miyoshi myopathy" + "tricuspid valve stenosis" "SKI-DCLC" "protein kinase c zeta type measurement" "urinary bladder" @@ -7180,8 +7180,8 @@ "duct" "obsolete_syndromic multisystem autoimmune disease due to ITCH deficiency" "Pyle disease" - "oligonucleotide DNA microarray" "Melnick-Needles syndrome" + "oligonucleotide DNA microarray" "epithelial cell of thymus" "serous adenocarcinoma" "GM17137" @@ -7213,8 +7213,8 @@ "obsolete_Koolen-de Vries syndrome due to a point mutation" "obsolete_hereditary continuous muscle fiber activity" "hypomyelinating leukodystrophy 13" - "obsolete_mulibrey nanism" "complete genomic deletion" + "obsolete_mulibrey nanism" "Salmonella enterica subsp. enterica serovar Muenchen" "Ovarian Steroid Cell Tumor" "Sensorimotor neuropathy" @@ -7245,8 +7245,8 @@ "obsolete_focal palmoplantar keratoderma with joint keratoses" "Vaginal Squamous Cell Carcinoma" "diacylglycerol 42:7 measurement" - "Jurkat" "CRE-Seq" + "Jurkat" "cold-induced sweating syndrome" "free cholesterol in medium LDL measurement " "herpetic whitlow" @@ -7335,8 +7335,8 @@ "perceptual disorders" "Early-onset ataxia with dementia" "prealbumin measurement" - "Mantle cell lymphoma" "pollination" + "Mantle cell lymphoma" "concentration of large LDL particles measurement" "Ichthyosis - oral and digital anomalies" "obsolete_muscular lipidosis" @@ -7545,8 +7545,8 @@ "cerebral dopamine neurotrophic factor measurement" "MANSC domain-containing protein 4 measurement" "cadherin-7 measurement" - "X-linked non-syndromic intellectual disability" "hereditary spastic paraplegia 72" + "X-linked non-syndromic intellectual disability" "Vertigo" "lethal(3)malignant brain tumor-like protein 2" "Fusarium solani" @@ -7705,9 +7705,9 @@ "nuclear factor NF-kappa-B p105 subunit" "carotid-femoral pulse wave velocity" "ubiquitin-conjugating enzyme E2 T measurement" + "level of ubiquitin-conjugating enzyme E2 E3 in blood serum" "sialic acid-binding Ig-like lectin 8" "fatty acid oxidation" - "level of ubiquitin-conjugating enzyme E2 E3 in blood serum" "eccrine sweat gland" "transcription factor 4" "carbonic anhydrase 13 measurement" @@ -7722,8 +7722,8 @@ "gastrula 90%-epiboly" "8-hydroxydeoxyguanosine measurement"@en "classic medulloblastoma" - "CB306" "GM11881" + "CB306" "corneal topography" "obsolete coralliform cataract" "leucine-rich repeat and fibronectin type-III domain-containing protein 3" @@ -7738,9 +7738,9 @@ "cysticercosis" "trait in response to vancomycin" "obsolete_UMUC3" - "3-hydroxyanthranilic acid measurement"@en "opportunistic mycosis" "otoraplin" + "3-hydroxyanthranilic acid measurement"@en "isolated hereditary congenital facial paralysis" "symphalangism" "Drosophila developmental tissue" @@ -7748,9 +7748,9 @@ "Eosinophilic Myelocyte Count" "matrix metalloproteinase 8 measurement" "W syndrome" + "triacylglycerol 49:1 measurement" "tissue factor measurement"@en "tonsillectomy risk measurement" - "triacylglycerol 49:1 measurement" "disease susceptibility" "postsynaptic density" "obsolete symbiotic process mediated by secreted substance" @@ -7761,8 +7761,8 @@ "obsolete_congenital brain dysgenesis due to glutamine synthetase deficiency" "LAMA2-related muscular dystrophy" "myofibrillar myopathy 11" - "neurodevelopmental disorder with hyperkinetic movements and dyskinesia" "chronic hepatitis" + "neurodevelopmental disorder with hyperkinetic movements and dyskinesia" "cefuroxime" "partial deletion of the short arm of chromosome 1" "Anxiety" @@ -7794,8 +7794,8 @@ "epilepsy, juvenile myoclonic, susceptibility to, 6" "arthrogryposis-like syndrome" "level of NF-kappa-B inhibitor beta in blood serum" - "protein FAM221B" "cerebral cortex volume measurement"@en + "protein FAM221B" "infancy electroclinical syndrome" "urea transporter 2" "LHCN-M2" @@ -7897,11 +7897,11 @@ "zinc finger protein 174" "obsolete_von Willebrand disease type 2N" "CS57644" - "Constitutional sideroblastic anemia" "protocadherin beta-4 measurement" - "Hereditary cerebral hemorrhage with amyloidosis, Piedmont type" + "Constitutional sideroblastic anemia" "obsolete_hereditary thrombocytopenia with normal platelets" "Xq25 microduplication syndrome" + "Hereditary cerebral hemorrhage with amyloidosis, Piedmont type" "level of beta-arrestin-1 in blood serum" "level of Phosphatidylinositol (18:0_20:4) in blood serum" "trombiculiasis" @@ -7934,8 +7934,8 @@ "jaw-winking syndrome" "pontocerebellar hypoplasia type 3" "Alzheimer's disease biomarker measurement" - "TCR-LA-MC PCR" "intellectual developmental disorder, autosomal dominant 63, with macrocephaly" + "TCR-LA-MC PCR" "free cholesterol in medium VLDL measurement " "phosphatidylcholine change measurement" "methylmercury chloride" @@ -8061,14 +8061,14 @@ "anxiety disorder" "obsolete_Ichthyosis follicularis - alopecia - photophobia" "obsolete_pantothenate kinase-associated neurodegeneration" - "epiphycan measurement" "total lipids in IDL" "Cowden syndrome 1" "HCC95" "SW620" + "epiphycan measurement" "infantile liver failure syndrome 1" - "level of BRICHOS domain-containing protein 5 (human) in blood serum" "cardiomyopathy, dilated, 1LL" + "level of BRICHOS domain-containing protein 5 (human) in blood serum" "hyperopia, high" "Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell" "HK-1"@en @@ -8120,14 +8120,14 @@ "LHSR" "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies" "eukaryotic translation initiation factor 1A, Y-chromosomal" - "obsolete_ermine phenotype" "CHIME syndrome" + "obsolete_ermine phenotype" "Ankyloblepharon filiforme adnatum - cleft palate" "upper lobe of left lung" "obsolete_rostral blood island" "ectocervix" - "obsolete_anlage" "MANSC domain-containing protein 1 measurement" + "obsolete_anlage" "follow-up" "Abnormal semicircular canal morphology" "necatoriasis" @@ -8211,8 +8211,8 @@ "intermediate severe Salla disease" "Caffey disease" "triglycerides to total lipids in large HDL percentage " - "46,XY partial gonadal dysgenesis" "mitochondrial complex I deficiency" + "46,XY partial gonadal dysgenesis" "level of transmembrane protein 106A in blood serum" "chromosome 17q12 duplication syndrome" "level of 40S ribosomal protein S14 in blood serum" @@ -8236,8 +8236,8 @@ "45,X/46,XY mixed gonadal dysgenesis" "Methanobacteria" "fatty acid-binding protein, epidermal measurement" - "3q27.3 microdeletion syndrome" "3P-Seq" + "3q27.3 microdeletion syndrome" "B10.NOD_H2g7_Idd3" "pelvic varices" "level of EH domain-containing protein 1 in blood serum" @@ -8249,9 +8249,9 @@ "V-type proton ATPase subunit C 2" "level of BTB/POZ domain-containing protein KCTD17 in blood serum" "n-acetylglucosamine-1-phosphotransferase subunit gamma measurement" - "n-acetylserotonin O-methyltransferase-like protein measurement" "Ehlers-Danlos syndrome type 7A" "GR1307" + "n-acetylserotonin O-methyltransferase-like protein measurement" "marine metagenome" "obsolete_exstrophy-epispadias complex" "X-12839 measurement" @@ -8322,8 +8322,8 @@ "intellectual disability-short stature-hypertelorism syndrome" "lysosome-associated membrane glycoprotein 1" "obsolete_torus semicircularis" - "progesterone receptor status" "C38:7 phosphatidylcholine plasmalogen measurement" + "progesterone receptor status" "gastrula 75%-epiboly" "ciliary dyskinesia, primary, 40" "SLAM family member 8" @@ -8370,9 +8370,9 @@ "Margaroyl-EA" "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 measurement" "UMI barcode" - "obsolete_lethal congenital contracture syndrome" "obsolete_ulna metaphyseal dysplasia syndrome" "level of THAP domain-containing protein 2 in blood serum" + "obsolete_lethal congenital contracture syndrome" "total lipids in LDL measurement " "chromosome 4 short arm deletion" "intermittent hydrarthrosis" @@ -8392,8 +8392,8 @@ "fever of unknown origin" "obsolete_intermediate nemaline myopathy" "Lymphoplasmacyte-Rich Meningioma" - "Abnormality of body weight" "TNF receptor-associated factor 4 measurement" + "Abnormality of body weight" "level of CDGSH iron-sulfur domain-containing protein 2 in blood serum" "Spinal instability" "angiotensin converting enzyme activity measurement" @@ -8426,8 +8426,8 @@ "obsolete_dappled diaphyseal dysplasia" "total lipids in medium VLDL" "Fos-related antigen 2" - "ubiquitin-conjugating enzyme E2 N measurement" "NCI-H2171" + "ubiquitin-conjugating enzyme E2 N measurement" "cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome" "zileuton" "level of 12,13-dihydroxyoctadec-9-enoic acid in blood plasma" @@ -8464,19 +8464,19 @@ "obsolete_lipomyelomeningocele" "central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor" "CB1370" + "46,XY gonadal dysgenesis - motor and sensory neuropathy" "early-onset nuclear cataract" "human granulocytic anaplasmosis" - "46,XY gonadal dysgenesis - motor and sensory neuropathy" "genotyping by array" "phacogenic glaucoma" "sodium-independent sulfate anion transporter" "cholesterol to total lipids in medium VLDL percentage " "hepatotoxicity" - "obsolete_mevalonic aciduria" "dietary vitamin B1 intake measurement" "progressive multifocal leukoencephalopathy" "alanyl-tRNA editing protein Aarsd1" "level of DnaJ homolog subfamily C member 18 in blood serum" + "obsolete_mevalonic aciduria" "levulinate 4-oxovalerate measurement" "protein disulfide-isomerase TXNDC10" "progressive pseudorheumatoid arthropathy of childhood" @@ -8535,8 +8535,8 @@ "GM17149" "Rare genetic coagulation disorder" "musculoskeletal system cancer" - "centrosomal protein 20" "atypical pantothenate kinase-associated neurodegeneration" + "centrosomal protein 20" "basophilic myelocyte" "Abnormal systemic blood pressure" "level of follitropin subunit beta in blood serum" @@ -8621,8 +8621,8 @@ "Pseudomonas fluorescens" "Partial pancreatic agenesis" "CS57803" - "Tracheal Adenoid Cystic Carcinoma" "Xq12-q13.3 duplication syndrome" + "Tracheal Adenoid Cystic Carcinoma" "dementia" "GlyA-positive erythrocyte" "2-aminoheptanoate measurement" @@ -8705,8 +8705,8 @@ "N'Dama" "Atelis syndrome" "beta-lactam" - "obsolete_dyskeratosis congenita" "gentisate measurement" + "obsolete_dyskeratosis congenita" "Limb muscle weakness" "linoleate 18:2n6-to-X-12442-5,8-tetradecadienoate ratio"@en "46,XX disorder of sex development-anorectal anomalies syndrome" @@ -8770,12 +8770,12 @@ "level of arylsulfatase K in blood serum" "level of Phosphatidylinositol (18:1_18:1) in blood serum" "tropical spastic paraparesis" - "level of progonadoliberin-2 in blood serum" "obsolete_congenital contractural arachnodactyly" - "prominin-1" + "level of progonadoliberin-2 in blood serum" "level of tether containing UBX domain for GLUT4 in blood serum" - "level of nucleolysin TIAR in blood serum" + "prominin-1" "level of transcription cofactor vestigial-like protein 4 in blood serum" + "level of nucleolysin TIAR in blood serum" "cornea squamous cell carcinoma" "Theiler stage 19" "level of sulfotransferase 4A1 in blood serum" @@ -8826,17 +8826,17 @@ "sporadic amyotrophic lateral sclerosis" "N-acetyl-2-aminooctanoate measurement" "ureter benign neoplasm" + "obsolete_LAMB2-related infantile-onset nephrotic syndrome" "infective vaginitis" "carcinoma ex pleomorphic adenoma" "CL1-0 cell" - "obsolete_LAMB2-related infantile-onset nephrotic syndrome" "retinal cell" "obsolete_hypothyroidism due to deficient transcription factors involved in pituitary development or function" + "stearoyl-arachidonoyl-glycerophosphoinositol (1) measurement" "Camptodactyly" "right aortic arch" "ichthyosiform erythroderma, corneal involvement, and hearing loss" "protein FAM162B" - "stearoyl-arachidonoyl-glycerophosphoinositol (1) measurement" "receptor-interacting serine/threonine-protein kinase 2 measurement" "transaldolase deficiency" "obsolete_PEHO syndrome" @@ -8924,9 +8924,9 @@ "fatty acid-binding protein, heart measurement" "transmembrane gamma-carboxyglutamic acid protein 4 measurement" "embryonic stage 14" + "obsolete synaptic congenital myasthenic syndrome" "Toscana virus" "tetrasomy 21" - "obsolete synaptic congenital myasthenic syndrome" "Ogden syndrome" "keratin, type I cytoskeletal 16" "Coffea arabica" @@ -9052,8 +9052,8 @@ "obsolete_upper thoracic spina bifida aperta" "level of unique cartilage matrix-associated protein in blood serum" "obsolete_congenital myopathy with internal nuclei and atypical cores" - "obsolete_aortic arch" "X-11497 measurement" + "obsolete_aortic arch" "obsolete_aromatase deficiency" "white matter integrity" "Lactobacillus sanfranciscensis" @@ -9132,8 +9132,8 @@ "glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1" "level of Ipurolic acid in blood serum" "5637" - "obsolete_paroxysmal dystonia" "level of beta-soluble NSF attachment protein in blood serum" + "obsolete_paroxysmal dystonia" "vascular neoplasm" "peroxisomal coenzyme A diphosphatase NUDT7" "integrin alpha-5 measurement" @@ -9165,19 +9165,18 @@ "chenodeoxycholate measurement"@en "Phenylalanine-d8" "obsolete syndromic urogenital tract malformation" - "Hereditary cerebral hemorrhage with amyloidosis, Italian type" - "Pili torti - developmental delay - neurological abnormalities" "Craniofrontonasal dysplasia" - "C-C motif chemokine 22 measurement" "corpus collosum mid-posterior volume measurement"@en "level of C-X-C motif chemokine 17 in blood serum" + "Hereditary cerebral hemorrhage with amyloidosis, Italian type" + "Pili torti - developmental delay - neurological abnormalities" + "C-C motif chemokine 22 measurement" + "Cercocebus atys" "3-methyladipic acid measurement"@en "Immature Plasma Cell Count" - "Felty's syndrome" - "Cercocebus atys" "WIDR" "Kohlschutter-Tonz syndrome-like" - "level of indoleamine 2,3-dioxygenase 1 in blood serum" + "Felty's syndrome" "tyrosinemia type II" "chronic conjunctivitis" "toxic or drug-related embryofetopathy" @@ -9186,6 +9185,7 @@ "V-set and immunoglobulin domain-containing protein 4" "Drosophila embryonic structure" "transposition of the great arteries" + "level of indoleamine 2,3-dioxygenase 1 in blood serum" "venlafaxine" "PTEN hamartoma tumor syndrome" "TruSeq"@en @@ -9289,8 +9289,8 @@ "Early infantile epileptic encephalopathy without suppression burst" "level of follistatin-related protein 4 in blood serum" "obsolete disorder of genitourinary system" - "R-warfarin measurement" "tRNA wybutosine-synthesizing protein 5" + "R-warfarin measurement" "acroosteolysis-keloid-like lesions-premature aging syndrome" "biliary tree" "Rap guanine nucleotide exchange factor 1" @@ -9317,8 +9317,8 @@ "cortical blindness-intellectual disability-polydactyly syndrome" "level of G0/G1 switch protein 2 in blood serum" "obsolete_isolated cryptophthalmia" - "bursitis" "ScaleBio single cell RNA sequencing"@en + "bursitis" "promyelocyte" "Neuronal intestinal pseudoobstruction" "receptor-type tyrosine-protein kinase flt3 measurement" @@ -9495,12 +9495,12 @@ "insulin sensitivity measurement" "salmonellosis" "obsolete_disorder of beta and omega amino acid metabolism" - "obsolete_congenital muscular dystrophy with cerebellar involvement" "phosphatidylcholine diacyl C40:6 measurement" "catechol sulfate measurement" "post-traumatic stress disorder" - "obsolete_Beckwith-Wiedemann syndrome" + "obsolete_congenital muscular dystrophy with cerebellar involvement" "level of arsenite methyltransferase in blood serum" + "obsolete_Beckwith-Wiedemann syndrome" "level of golgin subfamily A member 7 in blood serum" "eye-antennal disc" "level of Rho guanine nucleotide exchange factor TIAM1 in blood serum" @@ -9517,10 +9517,10 @@ "duodenal neuroendocrine neoplasm" "obsolete_syndromic hyperopia" "hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" + "obsolete_alpha-mannosidosis" "anterior segment dysgenesis 7" "chromosome 17q23.1-q23.2 deletion syndrome" "mannose" - "obsolete_alpha-mannosidosis" "Bacteroides thetaiotaomicron VPI-5482" "obsolete_animal component" "obsolete_neutral lipid storage myopathy" @@ -9604,9 +9604,9 @@ "anaplastic large cell lymphoma" "exercise-induced hyperinsulinism" "cartilage acidic protein 1" + "embryonic stage 15" "mosaic trisomy 4" "level of serine/threonine-protein kinase PAK 5 in blood serum" - "embryonic stage 15" "level of protein HID1 in blood serum" "interleukin-7 receptor subunit alpha measurement" "Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells" @@ -9640,8 +9640,8 @@ "Mowat-Wilson syndrome due to monosomy 2q22" "sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0) measurement" "Spinal Cord Ischemia" - "fibrinogen gamma chain measurement" "adrenal medulla chromaffin cell" + "fibrinogen gamma chain measurement" "transmembrane protease serine 11A measurement" "keratin, type I cytoskeletal 17" "Male infertility due to sperm disorder" @@ -9796,8 +9796,8 @@ "ubiquitin-fold modifier-conjugating enzyme 1 measurement" "congenital primary megaureter, obstructed form" "syndactyly type 3" - "glycochenodeoxycholate" "level of protein lin-28 homolog B in blood serum" + "glycochenodeoxycholate" "level of EH domain-containing protein 3 in blood serum" "kidney injury" "obsolete_autosomal dominant brachyolmia" @@ -9903,9 +9903,9 @@ "common bile duct" "mosaic trisomy 14" "multi-stage Repli-seq" - "anthracosis" "heparan sulfate glucosamine 3-O-sulfotransferase 3A1 measurement" "sudden cardiac arrest" + "anthracosis" "dihydrolipoyl dehydrogenase, mitochondrial" "Q fever" "Methanosarcina barkeri" @@ -9927,8 +9927,8 @@ "hippocampal neuron" "obsolete_congenital non-communicating hydrocephalus" "obsolete_symptomatic form of hemophilia B in female carriers" - "obsolete Toe walking" "Major Salivary Gland Carcinoma" + "obsolete Toe walking" "obsolete_isolated ankyloblepharon filiforme adnatum" "pyridoxal kinase measurement" "2-deoxy-D-glucose" @@ -9991,10 +9991,10 @@ "mitochondrial complex 1 deficiency, nuclear type 5" "chronic laryngitis" "Pilodental dysplasia - refractive errors" - "1-nonadecenoyl-GPC (19:1) measurement" "tyrosinemia type I" "ring chromosome 3" "obsolete_embryo stage" + "1-nonadecenoyl-GPC (19:1) measurement" "regulation of cell cycle" "obsolete_mesectoderm anlage" "Mature Plasma Cell Count" @@ -10023,15 +10023,15 @@ "ovarian mucinous neoplasm" "Fc receptor-like protein 6" "E3 ubiquitin-protein ligase RNF34 measurement" + "X-16938 measurement" "pseudorabies" "DNA dC->dU-editing enzyme APOBEC-3G" - "X-16938 measurement" "8-(3-chlorostyryl)caffeine" "adipose tissue derived mesenchymal stem cell" "respiratory gaseous exchange by respiratory system" - "obsolete_Pelizaeus-Merzbacher disease" "Parkinsonism" "level of peripheral plasma membrane protein CASK in blood serum" + "obsolete_Pelizaeus-Merzbacher disease" "acute myeloid leukemia, Monosomy 7" "obsolete_congenital primary megaureter, nonrefluxing and unobstructed form" "Meckel syndrome, type 3" @@ -10042,8 +10042,8 @@ "X-linked dominant intellectual disability-epilepsy syndrome" "obsolete_gene" "lobular breast carcinoma" - "tibial hemimelia, unilateral" "glycylpeptide n-tetradecanoyltransferase 1 measurement" + "tibial hemimelia, unilateral" "pulmonary artery-aorta diameter ratio measurement" "lissencephaly type 3-familial fetal akinesia sequence syndrome" "peak insulin response measurement" @@ -10096,8 +10096,8 @@ "mucous membrane pemphigoid" "beta-defensin 115" "obsolete_primary systemic amyloidosis" - "retinoblastoma (nonhereditary)" "Arachis hypogaea" + "retinoblastoma (nonhereditary)" "alpha-hydroxyisocaproate measurement" "obsolete_interleukin 12 receptor subunit beta-1 measurement" "purulent acute otitis media" @@ -10253,10 +10253,10 @@ "CH12.LX" "CLN8 disease" "level of paralemmin in blood serum" - "40s ribosomal protein SA measurement" "obsolete_bilateral renal agenesis" - "level of lung adenoma susceptibility protein 2 in blood serum" + "40s ribosomal protein SA measurement" "beta-Nicotinamide mononucleotide measurement" + "level of lung adenoma susceptibility protein 2 in blood serum" "CRISPR-UMI" "lung benign neoplasm" "level of sushi domain-containing protein 3 in blood serum" @@ -10288,8 +10288,8 @@ "mosaic trisomy 5" "embryonic stage 16" "cystadenofibroma" - "cytarabine" "obsolete_qualitative or quantitative defects of integrin alpha-7" + "cytarabine" "junctional adhesion molecule B measurement" "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias" "phospholipids in IDL measurement" @@ -10424,10 +10424,10 @@ "obsolete_rosette stage" "EC 2.7.11.13 (protein kinase C) inhibitor" "p-cresol sulfate measurement" + "obsolete_hemophilia B" "CD38-positive IgG-negative class switched memory B cell" "valine-to-isovalerylcarnitine ratio" "obsolete_corneal stroma" - "obsolete_hemophilia B" "DN3 thymocyte" "sexual dysfunction" "sleep apnea measurement during non-REM sleep" @@ -10499,8 +10499,8 @@ "TF1 cell" "Glycogen storage disease due to phosphoglucomutase deficiency" "sepiapterin reductase measurement" - "obsolete_Johanson-Blizzard syndrome" "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis" + "obsolete_Johanson-Blizzard syndrome" "obsolete_high anorectal malformation" "C-type lectin domain family 6 member A measurement" "GM17758" @@ -10647,8 +10647,8 @@ "translation initiation factor eIF-2B subunit alpha measurement" "chitinase-3-like protein 2 measurement" "risperidone" - "E3 ubiquitin-protein ligase ZFP91 measurement" "pack-years measurement" + "E3 ubiquitin-protein ligase ZFP91 measurement" "placental pericyte" "Pseudomonas fluorescens Pf-5" "syndecan-4" @@ -10669,9 +10669,8 @@ "pharyngeal squamous cell carcinoma" "level of endophilin-B1 in blood serum" "X-linked intellectual disability - cardiomegaly - congestive heart failure" - "perinatal jaundice due to hepatocellular damage" "monoblast" - "glycoursodeoxycholic acid sulfate (1) measurement" + "perinatal jaundice due to hepatocellular damage" "glypican-2 measurement" "insulin secretion measurement" "Streptococcus sp. 'group A'" @@ -10682,6 +10681,7 @@ "motor peripheral neuropathy" "ring chromosome 9" "obsolete_intercostal muscle" + "glycoursodeoxycholic acid sulfate (1) measurement" "obsolete_head mesoderm" "Alkuraya-Kucinskas syndrome" "level of INO80 complex subunit E in blood serum" @@ -10699,9 +10699,9 @@ "formin-binding protein 1" "Rare otorhinolaryngological malformation" "CRK-like protein measurement" + "sympathetic nervous system disorder" "protocadherin beta-10" "partial deletion of the short arm of chromosome 5" - "sympathetic nervous system disorder" "iPS-20b" "level of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 in blood serum" "Familial dysautonomia" @@ -10716,17 +10716,17 @@ "level of interleukin-1 alpha in blood serum" "X-16944 measurement" "Spondylocarpotarsal synostosis" - "endosialin" "level of Thr-Phe in blood" + "endosialin" "Abnormality of the tonsils" "recessive aplasia cutis congenita of limbs" - "acute myeloid leukemia, Monosomy 5" - "E3 ubiquitin-protein ligase LNX" "Müllerian aplasia" + "E3 ubiquitin-protein ligase LNX" + "acute myeloid leukemia, Monosomy 5" "obsolete_hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation" - "Bartter disease type 3" "lysophosphatidylethanolamine 18:0 measurement"@en "level of epididymal secretory protein E3-beta in blood serum" + "Bartter disease type 3" "susceptibility to chickenpox measurement" "sodium channel subunit beta-2 measurement" "obsolete_isobutyryl-CoA dehydrogenase deficiency" @@ -10826,8 +10826,8 @@ "membrane-bound aminopeptidase P measurement" "negative regulation of mitotic nuclear division" "level of synaptosomal-associated protein 29 in blood serum" - "Constitutional hemolytic anemia due to acanthocytosis" "concentration of" + "Constitutional hemolytic anemia due to acanthocytosis" "level of nucleotide triphosphate diphosphatase in blood serum" "level of Golgi phosphoprotein 3 in blood serum" "protein set measurement" @@ -10846,9 +10846,9 @@ "obsolete_Alport syndrome" "chromosome 16 trisomy" "obsolete_autosomal recessive palmoplantar keratoderma and congenital alopecia" + "Submandibular Gland Adenoid Cystic Carcinoma" "retinitis pigmentosa 93" "Brassica rapa" - "Submandibular Gland Adenoid Cystic Carcinoma" "parietal lobe volume measurement" "obsolete_guanidinoacetate methyltransferase deficiency" "ovarian clear cell malignant adenofibroma" @@ -10882,10 +10882,10 @@ "familial isolated deficiency of vitamin E" "obsolete_posterior amorphous corneal dystrophy" "response to corticosteroid" - "obsolete_angioosteohypertrophic syndrome" "glycogen storage disease due to lactate dehydrogenase H-subunit deficiency" "tyrosyl-DNA phosphodiesterase 1" "obsolete_otolith organ" + "obsolete_angioosteohypertrophic syndrome" "drug toxicity"@en "PSN1" "obsolete_1q41q42 microdeletion syndrome" @@ -10907,14 +10907,14 @@ "picomole" "trophoblastic neoplasm" "amitriptyline" - "Cloverleaf skull - multiple congenital anomalies" "ovarian neoplasm" "Elevated circulating C-reactive protein concentration" "response to supplemental oxygen" "homogentisate 1,2-dioxygenase measurement" - "obsolete_familial long QT syndrome" + "Cloverleaf skull - multiple congenital anomalies" "25-hydroxyvitamin D2" "microcephaly-thin corpus callosum-intellectual disability syndrome" + "obsolete_familial long QT syndrome" "AG08046" "Abnormal cerebral vascular morphology" "tetratricopeptide repeat protein 9A" @@ -10974,8 +10974,8 @@ "level of methyltransferase-like protein 11A in blood serum" "DNA dC->dU-editing enzyme APOBEC-3G measurement" "electroneutral sodium bicarbonate exchanger 1" - "Precursor Plasma Cell Count" "level of protein S100-A8 in blood serum" + "Precursor Plasma Cell Count" "caspase-8 measurement" "autosomal recessive severe congenital neutropenia" "non-infectious anterior uveitis" @@ -11074,9 +11074,9 @@ "benign recurrent intrahepatic cholestasis" "obsolete_benign recurrent intrahepatic cholestasis" "killer cell immunoglobulin-like receptor 2DL4 measurement" - "ryr1-related disorders" "proteasome assembly chaperone 3" "atopy" + "ryr1-related disorders" "basaloid squamous cell carcinoma" "Abnormal facial skeleton morphology" "DN4 thymocyte" @@ -11097,12 +11097,12 @@ "tumor necrosis factor receptor II measurement" "morning glory syndrome" "lysophosphatidylethanolamine" - "ependymal tumor of spinal cord" "obsolete_atypical hemolytic-uremic syndrome with anti-factor H antibodies" - "blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome" + "ependymal tumor of spinal cord" "fibroblast growth factor 10 measurement" - "MOGS-congenital disorder of glycosylation" + "blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome" "methenyltetrahydrofolate synthase domain-containing protein" + "MOGS-congenital disorder of glycosylation" "pheochromocytoma-paraganglioma"@en "level of leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 in blood serum" "level of ETS homologous factor in blood serum" @@ -11197,8 +11197,8 @@ "N6,N6-dimethyllysine measurement" "obsolete_familial cylindromatosis" "autosomal recessive spastic ataxia" - "HG02798" "Saccharopolyspora erythraea" + "HG02798" "GM5659" "Ulnar/fibula ray defect - brachydactyly" "level of serine/threonine-protein phosphatase 2A regulatory subunit B' in blood serum" @@ -11261,6 +11261,7 @@ "obsolete_hyperkeratosis-hyperpigmentation syndrome" "lethal infantile mitochondrial myopathy" "Lui-Jee-Baron syndrome" + "obsolete_duplication/inversion 15q11" "central nervous system development" "octadecanoate" "Drosophila santomea" @@ -11269,9 +11270,8 @@ "finishing sequencing assay" "endoplasmin" "Abnormal circulating glucose-6-phosphate dehydrogenase concentration" - "obsolete_duplication/inversion 15q11" - "GM17800" "clinical modifier"@en + "GM17800" "plasma clusterin measurement" "phosphatidylcholine O-44:5" "Hereditary myoclonus - progressive distal muscular atrophy" @@ -11343,8 +11343,8 @@ "obsolete_atelosteogenesis type III" "glypican-3 measurement" "fibular hemimelia, unilateral" - "physical activity measurement" "Leukocytosis" + "physical activity measurement" "Chlorocebus aethiops" "Partial autosomal trisomy/tetrasomy" "obsolete_Becker nevus syndrome" @@ -11365,16 +11365,16 @@ "leucine-rich repeat-containing protein 4C measurement" "malate(2-)" "hypospadias-intellectual disability, Goldblatt type syndrome" + "obsolete_autosomal dominant spastic ataxia" "in situ HiC" "parathyroid hormone secretion" "heterogeneous nuclear ribonucleoproteins C1/C2 measurement" - "obsolete_autosomal dominant spastic ataxia" "obsolete_atrioventricular node" "erythroleukemia cell" "obsolete_palpebral nevus" "late-infantile/juvenile Krabbe disease" - "Autosomal recessive spastic paraplegia type 64" "obsolete_spinocerebellar ataxia type 27" + "Autosomal recessive spastic paraplegia type 64" "acquired lipodystrophy" "organonitrogen compound biosynthetic process" "neuronopathy, distal hereditary motor, autosomal recessive" @@ -11478,8 +11478,8 @@ "BLOC-1-related complex subunit 5" "obsolete_Kleefstra syndrome due to 9q34 microdeletion" "mitochondrial glutamate carrier 2 measurement" - "N(omega),N'(omega)-dimethyl-L-arginine" "Herpetic encephalitis" + "N(omega),N'(omega)-dimethyl-L-arginine" "RNA-binding protein FXR1" "level of coenzyme Q-binding protein COQ10 homolog A, mitochondrial in blood serum" "Cardiac shunt" @@ -11550,10 +11550,10 @@ "citrin deficiency" "adipocyte plasma membrane-associated protein measurement" "FL.01 1/4 of flowers open stage" - "ovarian reserve" "scopolamine methobromide" "sleep-related hypermotor epilepsy" "mucinous neoplasm" + "ovarian reserve" "horizontal septum" "obsolete_carpel" "arrhythmogenic right ventricular dysplasia 5" @@ -11589,21 +11589,21 @@ "choroidal dystrophy, central areolar 2" "LP.04 four leaves visible stage" "acne" - "Short rib-polydactyly syndrome, Beemer-Langer type" "lung disease associated with cystic fibrosis" "myosin regulatory light chain 12B" "cholesteryl ester" - "obsolete_Rabson-Mendenhall syndrome" + "Short rib-polydactyly syndrome, Beemer-Langer type" "L-ferritin deficiency" + "obsolete_Rabson-Mendenhall syndrome" "Bacillus anthracis str. Sterne" "Salmonella enterica subsp. enterica serovar Muenster" - "obsolete_Oliver syndrome" "level of Ras-related protein R-Ras2 in blood serum" "spindlin-3" + "obsolete_Oliver syndrome" "autoimmune thrombocytopenic purpura" "cutis laxa" - "obsolete_genito-palato-cardiac syndrome" "frizzled-4" + "obsolete_genito-palato-cardiac syndrome" "Short 5th metacarpal" "Anemia, Hemolytic, Autoimmune" "G84" @@ -11815,8 +11815,8 @@ "level of endothelial lipase in blood serum" "level of EP300-interacting inhibitor of differentiation 3 in blood serum" "laryngotracheoesophageal cleft" - "bronchoconstriction" "obsolete_partial deletion of chromosome 5" + "bronchoconstriction" "level of Sterol ester (27:1/18:2) in blood serum" "anonychia-onychodystrophy syndrome" "photosensitive epilepsy" @@ -11866,9 +11866,9 @@ "Anomalous pulmonary venous return" "hereditary neuromuscular disease" "N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming" + "1,2-dibromoethane" "level of serum paraoxonase/arylesterase 1 in blood serum" "level of phosphatidylcholine-sterol acyltransferase in blood serum" - "1,2-dibromoethane" "reproductive system cancer" "obsolete_McKusick-Kaufman syndrome" "Jackson-Weiss syndrome" @@ -11935,9 +11935,9 @@ "obsolete_induced pluripotent stem cell" "obsolete_thyrotoxic periodic paralysis" "X-linked recessive mitochondrial myopathy" + "Inherited giant platelet disorder" "heterogeneous nuclear ribonucleoprotein M measurement" "tacrolimus measurement" - "Inherited giant platelet disorder" "autonomic nervous system disease" "obsolete_cervix" "obsolete_mosaic trisomy 10" @@ -11945,8 +11945,8 @@ "guttate psoriasis" "CTS (Concatenated Tag Sequencing)" "Anemia due to adenosine triphosphatase deficiency" - "GM17801" "cerebrospinal fluid clusterin measurement" + "GM17801" "level of high mobility group protein B3 in blood serum" "phosphatidylcholine O-44:4" "anterior horn disorder" @@ -11997,9 +11997,9 @@ "long term hematopoietic stem cell" "ACHN" "obsolete_multiple epiphyseal dysplasia type 4" + "obsolete_Seckel syndrome" "sphingomyeline C16:1 measurement" "mitochondrial complex III deficiency" - "obsolete_Seckel syndrome" "occular toxicity"@en "obsolete_split hand, unilateral" "obsolete_maternally-inherited mitochondrial dystonia" @@ -12016,14 +12016,14 @@ "hair defect with photosensitivity and intellectual disability syndrome" "congenital hereditary facial paralysis-variable hearing loss syndrome" "lip disorder" - "histone H1.10" "obsolete_coloboma of choroid and retina" + "histone H1.10" "Abnormal morphology of left ventricular trabeculae" "level of glucose-induced degradation protein 8 homolog in blood serum" "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency" "hematopoietic SH2 domain-containing protein" - "1-margaroyl-GPE (17:0) measurement" "Abnormal chromosome morphology" + "1-margaroyl-GPE (17:0) measurement" "obsolete_caudal tuberculum" "1-palmitoylglycerophosphoethanolamine measurement" "partial deletion of the short arm of chromosome 7" @@ -12074,12 +12074,12 @@ "ubiquitin carboxyl-terminal hydrolase 4" "obsolete_partial duplication of the long arm of chromosome 14" "obsolete_brachydactyly type A4" + "N-methylpipecolate measurement" "Illumina native qseq format" "level of protein FAM221A in blood serum" - "N-methylpipecolate measurement" + "probable RNA-binding protein 46" "GM17797" "software variation design" - "probable RNA-binding protein 46" "glutaminyl-peptide cyclotransferase" "RERF-LC-MS" "Pinus strobus" @@ -12130,10 +12130,10 @@ "mathematical ability" "obsolete_intestinal bulb" "guanosine measurement" - "retinol-binding protein 4 measurement" "energy expenditure measurement" - "tiglylcarnitine (C5:1-DC) measurement" + "retinol-binding protein 4 measurement" "bleeding disorder, platelet-type, 24" + "tiglylcarnitine (C5:1-DC) measurement" "level of galectin-related protein in blood serum" "heme oxygenase 1 deficiency" "fructose 6-phosphate" @@ -12210,8 +12210,8 @@ "Parvoviridae infectious disease" "chronic closed-angle glaucoma" "hereditary sensory and autonomic neuropathy" - "protein FAM3B measurement" "Cockayne syndrome" + "protein FAM3B measurement" "macrodactyly of fingers, unilateral" "obsolete_polydactyly of a biphalangeal thumb, bilateral" "Glutaconylcarnitine" @@ -12258,6 +12258,7 @@ "adolescent/adult-onset epilepsy syndrome" "Primary amenorrhea" "Avulavirus infectious disease" + "Recurrent infections-myelofibrosis-nephromegaly syndrome" "obsolete_congenital absence of both forearm and hand" "X-linked intellectual disability - epilepsy" "TBY-2" @@ -12266,7 +12267,6 @@ "Hyperkeratosis" "Blepharophimosis-intellectual disability syndrome, Verloes type" "Aneurysm, False" - "Recurrent infections-myelofibrosis-nephromegaly syndrome" "obsolete_orofaciodigital syndrome type 12" "level of transcription factor MafG in blood serum" "level of ephrin type-A receptor 8 in blood serum" @@ -12463,8 +12463,8 @@ "X-21467 measurement"@en "level of Bcl-2-modifying factor in blood serum" "obsolete_Infantile neuroaxonal dystrophy" - "Genetic syndrome with a Dandy-Walker malformation as major feature" "blood N-acetylproline measurement" + "Genetic syndrome with a Dandy-Walker malformation as major feature" "Quant-seq" "mediastinum synovial sarcoma" "Male infertility with spermatogenesis disorder" @@ -12478,8 +12478,8 @@ "X-12680 measurement" "juvenile cataract-microcornea-renal glucosuria syndrome" "guard cell" - "glucocorticoid therapy, response to" "WHCO6"@en + "glucocorticoid therapy, response to" "respiratory disease biomarker" "BTB/POZ domain-containing protein KCTD15" "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial" @@ -12507,9 +12507,9 @@ "colorectal lipoma" "Triphalangeal thumbs - brachyectrodactyly" "CCL20 measurement" + "hypopharynx anlage in statu nascendi" "autosomal recessive limb-girdle muscular dystrophy type 2Q" "level of potassium channel regulatory protein in blood serum" - "hypopharynx anlage in statu nascendi" "serine palmitoyltransferase 1" "Acanthopleura" "level of lithostathine-1-alpha in blood serum" @@ -12688,8 +12688,8 @@ "obsolete_coloboma of eye lens" "acromesomelic dysplasia 3" "AA amyloidosis" - "PEO6" "serine protease inhibitor Kazal-type 13 measurement" + "PEO6" "UMI Method" "facioscapulohumeral muscular dystrophy 4, digenic" "spondylocostal dysostosis-hypospadias-intellectual disability syndrome" @@ -12697,13 +12697,13 @@ "psychomotor performance" "hearing loss, autosomal dominant 83" "obsolete_oropharynx" - "petaloid toenail" "1-palmitoylglycerophosphoinositol measurement" + "petaloid toenail" "integumentary system disease"@en + "Nanogrid RNA-Seq" "Ras-related protein Rab-5C" "obsolete Sparse and thin eyebrow" "normal cell line" - "Nanogrid RNA-Seq" "fluoranthene" "Testicular Germ Cell Tumor" "CFPAC-1" @@ -12783,8 +12783,8 @@ "erythrocyte disorder" "obsolete_Lynch syndrome" "baicalin" - "optic disc area measurement" "protein APCDD1 measurement" + "optic disc area measurement" "dilated cardiomyopathy 1BB" "isolated Klippel-Feil syndrome" "level of integral membrane protein DGCR2/IDD in blood serum" @@ -12799,10 +12799,10 @@ "dendritic cell sarcoma" "cecum adenocarcinoma" "Julidochromis transcriptus" + "obsolete_trisomy 8p" "level of protein notum in blood serum" "Clostridium difficile" "Illumina native scarf format" - "obsolete_trisomy 8p" "ferulic acid 4-sulfate measurement" "GM17802" "time series design" @@ -12934,11 +12934,11 @@ "obsolete_stigma" "obsolete autosomal dominant hereditary sensory and autonomic neuropathy" "1-palmitoyl-2-eicosapentaenoyl-GPE (16:0/20:5) measurement" - "pyruvate kinase PKLR" "synaptosomal-associated protein 25 measurement" + "pyruvate kinase PKLR" "level of adhesion G protein-coupled receptor B1 in blood serum" - "odonto-onycho-dermal dysplasia" "macrodactyly of fingers, bilateral" + "odonto-onycho-dermal dysplasia" "N-acetylaspartic acid measurement" "level of E3 ubiquitin-protein ligase TRIM21 in blood serum" "N-acetylmuramoyl-L-alanine amidase" @@ -12995,8 +12995,8 @@ "cortical surface area measurement"@en "obsolete_thymus primordium" "myofibrillar myopathy 8" - "Aniseikonia" "Short metacarpal" + "Aniseikonia" "obsolete cellular nitrogen compound metabolic process" "level of myelin-associated glycoprotein in blood serum" "level of ephrin type-B receptor 1 in blood serum" @@ -13020,25 +13020,25 @@ "glycosyltransferase 8 domain-containing protein 1" "Thermotoga maritima" "Aniridia - cerebellar ataxia - intellectual disability" - "pterygium colli-intellectual disability-digital anomalies syndrome" "Myasthenic syndrome with eye involvement" + "pterygium colli-intellectual disability-digital anomalies syndrome" "lymph node adenoid cystic carcinoma" "level of acyl-coenzyme A thioesterase 8 in blood serum" "Rare constitutional hemolytic anemia due to an enzyme disorder" "rectum" - "Illumina HiSeq 1000" "Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes" - "Mumps virus infectious disease" - "obsolete_cranial ganglion" + "Illumina HiSeq 1000" "photoreceptor cell layer thickness measurement" + "obsolete_cranial ganglion" + "Mumps virus infectious disease" "phosphatidylcholine 38:2" "vitreous disorder" "level of sulfite oxidase, mitochondrial in blood serum" "neurofaciodigitorenal syndrome" "gigaxonin" "obsolete_partial deletion of the short arm of chromosome 19" - "inborn disorder of porphyrin metabolism" "Syringocystadenoma Papilliferum" + "inborn disorder of porphyrin metabolism" "hyocholic acid" "neuromuscular disease and ocular or auditory anomalies with or without seizures" "coloboma of superior eyelid" @@ -13071,10 +13071,10 @@ "obsolete_CEMC1" "benign neoplasm of retina" "NCI-H810" + "obsolete_posterior corneal dystrophy" "leukocyte immunoglobulin-like receptor subfamily B member 1 measurement" "obsolete_congenital enterocyte heparan sulfate deficiency" "5'-nucleotidase measurement" - "obsolete_posterior corneal dystrophy" "dorsal longitudinal anastomotic vessel" "obsolete congenital trochlear nerve palsy" "N,N-dimethylalanine measurement" @@ -13099,8 +13099,8 @@ "calcium-binding and coiled-coil domain-containing protein 2" "5-oxoproline measurement" "dysraphism-cleft lip/palate-limb reduction defects syndrome" - "X-14662 measurement" "level of eukaryotic translation initiation factor 1A, X-chromosomal in blood serum" + "X-14662 measurement" "mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte" "menstrual cycle-dependent periodic fever" "coenzyme Q10 deficiency, primary, 1" @@ -13112,9 +13112,9 @@ "HLA class II histocompatibility antigen, DM alpha chain measurement" "CMK" "U-87 MG" - "Hypomyelination - congenital cataract" "level of pantothenate kinase 3 in blood serum" "adult brainstem glioma" + "Hypomyelination - congenital cataract" "32D clone3" "Cappable-Seq" "ampulla of vater mucinous adenocarcinoma" @@ -13147,8 +13147,8 @@ "C-type lectin domain family 10 member A" "Pruritus" "eukaryotic translation initiation factor 4E type 2" - "Bm5 B cell" "Tetralogy of Fallot with absent pulmonary valve" + "Bm5 B cell" "level of putative protein-lysine deacylase ABHD14B in blood serum" "SCOPE-chip" "biphasic synovial sarcoma" @@ -13157,9 +13157,9 @@ "cot filtration for moderately repetitive genomic DNA" "intrahepatic cholestasis" "obsolete_thoracolaryngopelvic dysplasia" + "diffusing capacity of the lung for carbon monoxide" "obsolete_presumptive ectoderm" "obsolete_H322T" - "diffusing capacity of the lung for carbon monoxide" "chronic fatigue syndrome" "obsolete_duplication of the pituitary gland" "pemphigus vegetans" @@ -13235,17 +13235,17 @@ "obsolete_camptodactyly of fingers" "level of lithostathine-1-beta in blood serum" "lipocalin-1 measurement" + "10x 5' v3"@en "ichthyosis-intellectual disability-dwarfism-renal impairment syndrome" "coelomocyte" - "10x 5' v3"@en "HLA class II histocompatibility antigen, DQ alpha 2 chain measurement" "X-linked recessive hereditary axonal motor and sensory neuropathy" "cytochrome c oxidase subunit 6C measurement" + "4-hydroxycoumarin measurement" "Barth syndrome" + "spastic paraplegia, intellectual disability, nystagmus, and obesity" "ubiquitin carboxyl-terminal hydrolase 5" "obsolete_mitochondrial disorder" - "4-hydroxycoumarin measurement" - "spastic paraplegia, intellectual disability, nystagmus, and obesity" "obsolete_Familial hyperaldosteronism" "pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 measurement" "acute transudative otitis media" @@ -13304,8 +13304,8 @@ "NCI-H661" "rosette growth complete stage" "Juvenile Xanthogranuloma" - "Ly49H-positive natural killer cell, mouse" "129S/SvEv"@en + "Ly49H-positive natural killer cell, mouse" "antiphospholipid syndrome" "lung cancer" "sialic acid-binding Ig-like lectin 10 measurement" @@ -13351,11 +13351,11 @@ "extra or missing processual parts" "X-12696 measurement" "naphthalene-1,5-diamine" - "obsolete_essential strabismus" "level of alpha-actinin-2 in blood serum" "hereditary spastic paraplegia 39" "lymphogranuloma venereum" "in-situ hybridization assay" + "obsolete_essential strabismus" "CITE-seq (sample multiplexing)" "obsolete accelerated tumor formation, susceptibility to" "obsolete_paternal uniparental disomy of chromosome 13" @@ -13364,10 +13364,10 @@ "obsolete autosomal monosomy" "mitochondrial complex IV deficiency, nuclear type 23" "Griscelli disease type 2" + "obsolete_episodic ataxia type 7" "Endometrial Undifferentiated Carcinoma" "corticoliberin measurement" "short-rib thoracic dysplasia 21 without polydactyly" - "obsolete_episodic ataxia type 7" "alpha-tocopherol" "oncocytic neoplasm" "obsolete_Atypical Mayer-Rokitansky-Küster-Hauser syndrome" @@ -13403,8 +13403,8 @@ "cleft larynx, posterior" "Leydig cell hypoplasia due to partial LH resistance" "response to antineoplastic agent" - "N-acetylgalactosamine-6-sulfatase" "pasteurellosis" + "N-acetylgalactosamine-6-sulfatase" "familial adenomatous polyposis 2" "1-aminocyclopropane-1-carboxylic acid meaaurement"@en "cecum lymphoma" @@ -13473,11 +13473,11 @@ "familial meningioma" "E3 ubiquitin-protein ligase pellino homolog 1" "GM17281" + "obsolete_brachydactyly type A2" "benign neoplasm of maxillary sinus" "not rare" - "obsolete_brachydactyly type A2" - "Illumina native fastq format" "obsolete_partial deletion of the short arm of chromosome 8" + "Illumina native fastq format" "sialolithiasis" "membrane protein FAM174B measurement" "GM17803" @@ -13498,14 +13498,14 @@ "flufenamic acid" "Brugada syndrome 8" "childhood parosteal osteosarcoma" - "obsolete_mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis" "oxidised LDL" "male reproductive organ cancer" "obsolete_Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency" "dysostosis, Stanescu type" "Gastrointestinal angiodysplasia" - "protein arginine N-methyltransferase 3 measurement" + "obsolete_mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis" "optic rim area measurement" + "protein arginine N-methyltransferase 3 measurement" "chromosome 5Q14.3 deletion syndrome, distal" "NS-0" "primary familial polycythemia due to EPO receptor mutation" @@ -13522,15 +13522,15 @@ "scavenger receptor cysteine-rich domain-containing group B protein" "filamin-related bone disorder" "obsolete_tetrasomy 5p" + "obsolete_tubular aggregate myopathy" "congenital disorder of deglycosylation 1" "interleukin-13" "APOE carrier status" "spinal cord lateral wall" "level of hydroxymethylglutaryl-CoA synthase, cytoplasmic in blood serum" - "obsolete_tubular aggregate myopathy" "response to intravenous immunoglobulin therapy" - "carnitine palmitoyl transferase II deficiency, neonatal form" "embryonic epipharynx" + "carnitine palmitoyl transferase II deficiency, neonatal form" "Thrombocytopenia" "Ehlers-Danlos syndrome, classic-like, 2" "level of mitotic checkpoint serine/threonine-protein kinase BUB1 in blood serum" @@ -13542,8 +13542,8 @@ "obsolete_Brugada syndrome" "level of thymidine kinase 2, mitochondrial in blood serum" "Autosomal recessive spastic paraplegia type 55" - "multiple synostoses syndrome 1" "lissencephaly spectrum disorder with complex brainstem malformation" + "multiple synostoses syndrome 1" "level of far upstream element-binding protein 2 in blood serum" "level of apelin in blood serum" "CS57628" @@ -13602,9 +13602,9 @@ "Congenital disorder of glycosylation with hepatic involvement" "cryptococcosis" "Primary bone dysplasia with defective bone mineralization" + "obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain" "level of nucleobindin-2 in blood serum" "Labial hypoplasia" - "obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain" "squamous cell breast carcinoma, acantholytic variant" "obsolete_Dent disease type 2" "Abnormal thrombosis" @@ -13616,8 +13616,8 @@ "Rare genetic disease with myoclonus as a major feature" "obsolete_focal acral hyperkeratosis" "autosomal dominant secondary polycythemia" - "abnormal vaginal discharge smell" "Selaginella" + "abnormal vaginal discharge smell" "lower motor neuron syndrome with late-adult onset" "supranuclear palsy, progressive, 1" "RAW264.7" @@ -13677,8 +13677,8 @@ "level of 5'-nucleotidase domain-containing protein 1 in blood serum" "cell cycle checkpoint protein RAD1 measurement" "leprosy" - "sclerocornea" "obsolete_oromandibular-limb anomalies syndrome" + "sclerocornea" "1-palmitoyl-2-palmitoleoyl-GPC (16:0/16:1) measurement" "N-arachidonoyl dopamine measurement" "level of zinc finger protein RFP in blood serum" @@ -13691,8 +13691,8 @@ "phenylmethanesulfonyl fluoride measurement" "transmembrane protein 234" "phosphatidylinositol measurement"@en - "level of melanoma-associated antigen 10 in blood serum" "congenital mitral valve insufficiency" + "level of melanoma-associated antigen 10 in blood serum" "factor VII deficiency" "chronic salpingo-oophoritis" "gestational trophoblastic neoplasm" @@ -13702,8 +13702,8 @@ "chorioretinitis" "Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency" "pancreatic juice secretion" - "obsolete_dermo-odonto dysplasia" "fibroblast growth factor receptor 1 measurement" + "obsolete_dermo-odonto dysplasia" "GM17236" "obsolete_pancreatic triacylglycerol lipase deficiency" "central nervous system malformation" @@ -13766,10 +13766,10 @@ "level of staphylococcal nuclease domain-containing protein 1 in blood serum" "level of BRO1 domain-containing protein BROX in blood serum" "odontogenic neoplasm" + "outer nuclear layer thickness measurement" "level of patatin-like phospholipase domain-containing protein 2 in blood serum" "obsolete_trigeminal ganglion" "muscle cancer" - "outer nuclear layer thickness measurement" "obsolete_Feingold syndrome type 2" "Xenopus laevis x Xenopus muelleri" "influenza A (H1N1)" @@ -13794,8 +13794,8 @@ "vesicle-associated membrane protein 8 measurement" "level of proteasome subunit beta type-1 in blood serum" "response to mineral dust exposure" - "probable carboxypeptidase X1 measurement" "adrenal gland ganglioneuroblastoma" + "probable carboxypeptidase X1 measurement" "calcitonin receptor" "X-14745 measurement" "immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte" @@ -13829,10 +13829,10 @@ "1-docosahexaenoyl-GPC (22:6) measurement" "nocodazole" "Primary dystonia, DYT13 type" - "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis" + "obsolete_dicarboxylic aminoaciduria" "enterococcus faecalis seropositivity" + "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis" "obsolete_meristem" - "obsolete_dicarboxylic aminoaciduria" "level of protein dpy-30 in blood serum" "Kluyveromyces lactis" "perinatal lethal hypophosphatasia" @@ -13868,8 +13868,8 @@ "obsolete_lethal omphalocele-cleft palate syndrome" "myocardial zonula adherens protein measurement" "obsolete_Marie Unna hereditary hypotrichosis" - "obsolete_Coffin-Siris syndrome" "breast cancer cell line" + "obsolete_Coffin-Siris syndrome" "m1A mapping" "obsolete_common mesentery" "Preauricular pit" @@ -13909,8 +13909,8 @@ "central nervous system embryonal neoplasm"@en "familial atrial myxoma" "infectious disease biomarker" - "obsolete_multiple congenital anomalies due to 14q32.2 maternally expressed gene defect" "obsolete_conotruncal heart malformations" + "obsolete_multiple congenital anomalies due to 14q32.2 maternally expressed gene defect" "adactyly of foot, bilateral" "cadherin-5 measurement" "oligophrenin-1" @@ -13939,8 +13939,8 @@ "core histone macro-H2A.1" "level of regenerating islet-derived protein 3-alpha in blood serum" "diacylglycerol 44:6 measurement" - "level of sulfotransferase 1E1 in blood serum" "Male infertility due to obstructive azoospermia of genetic origin" + "level of sulfotransferase 1E1 in blood serum" "obsolete_Langer mesomelic dysplasia" "IMAGe syndrome" "antigen profiling" @@ -13955,8 +13955,8 @@ "serine/threonine-protein kinase 17B measurement" "Enterococcus casseliflavus" "malignant tumor of nasopharynx" - "next to BRCA1 gene 1 protein" "autoimmune hypoparathyroidism" + "next to BRCA1 gene 1 protein" "N-(3E-hexadecenoyl)-deoxysphing-4-enine-1-sulfonate" "macrophage" "syndromic breast hypoplasia/aplasia" @@ -13987,17 +13987,17 @@ "level of protein EURL in blood serum" "IGF-like family receptor 1 measurement" "level of sperm acrosome membrane-associated protein 1 in blood serum" - "interleukin-10 receptor subunit alpha measurement" "choroid plexus papilloma" + "interleukin-10 receptor subunit alpha measurement" "hypercholesterolemia, familial, 1" "inherited Creutzfeldt-Jakob disease" "level of sulfiredoxin-1 in blood serum" "chromosome 22q11.2 microduplication syndrome" "basal cell of epidermis" "hemangioma of peripheral nerve" - "Frac-Seq" "Methylation Spanning Linker Library (MSLL) processing" "Zoarces viviparus" + "Frac-Seq" "pregnancy-specific beta-1-glycoprotein 3 measurement" "freeze dried specimen" "mitochondrial import inner membrane translocase subunit Tim8 A" @@ -14174,8 +14174,8 @@ "level of ubiquitin-conjugating enzyme E2 Q2 in blood serum" "progressive cerebello-cerebral atrophy" "cup-to-disc ratio measurement" - "FVB"@en "Ly49D-negative natural killer cell, mouse" + "FVB"@en "telencephalic ventricle" "simvastatin" "adenomyoma" @@ -14202,13 +14202,13 @@ "level of DNA/RNA-binding protein KIN17 in blood serum" "obsolete_subependymal nodular heterotopia" "hypersensitivity pneumonitis, familial" + "oleoyl-oleoyl-glycerol (18:1/18:1) [2] measurement" "X-12798-to-phenylalanine ratio" "MATQ-seq" "B cell derived cell line" "vulvovaginal candidiasis" "congenital hematological disorder" "level of protein MENT in blood serum" - "oleoyl-oleoyl-glycerol (18:1/18:1) [2] measurement" "level of serine/threonine-protein kinase tousled-like 1 in blood serum" "obsolete_hypophosphatasia" "Autosomal recessive spastic paraplegia type 28" @@ -14223,9 +14223,9 @@ "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" "gangrene" "function" + "Microphthalmia - brain atrophy" "hepatic stellate cell" "nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis" - "Microphthalmia - brain atrophy" "Streptomyces venezuelae" "GM17794" "gastroenteritis" @@ -14299,8 +14299,8 @@ "otospondylomegaepiphyseal dysplasia, autosomal dominant" "copy number assessment" "hyperlipoproteinemia" - "C4BP measurement" "testosterone measurement" + "C4BP measurement" "GM02783" "leukocyte adhesion deficiency 1" "EF-hand calcium-binding domain-containing protein 14 measurement" @@ -14325,9 +14325,9 @@ "retinal arterial tortuosity" "oligoastrocytic tumor" "abnormal vaginal discharge itching" - "adult-onset Still's disease" "autosomal recessive non-syndromic intellectual disability" "RKO" + "adult-onset Still's disease" "level of WAP four-disulfide core domain protein 3 in blood serum" "GM19240" "helicoid peripapillary chorioretinal degeneration" @@ -14342,9 +14342,9 @@ "Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation" "vaginal germ cell malignant tumor" "level of calcium uptake protein 3, mitochondrial in blood serum" - "obsolete_brachydactyly type A7" "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 measurement" "interleukin-15" + "obsolete_brachydactyly type A7" "Heliconius erato etylus x Heliconius himera" "skin appendage carcinoma" "Charlie M syndrome" @@ -14372,8 +14372,8 @@ "Epidermal thickening" "Benign Ovarian Surface Epithelial-Stromal Tumor" "GlcNAc sulfate conjugate of C21H34O2 steroid measurement" - "free cholesterol to total lipids in very large HDL percentage " "protein argonaute-1 measurement" + "free cholesterol to total lipids in very large HDL percentage " "Pelvic kidney" "epilepsy, idiopathic generalized, susceptibility to, 8" "McLeod neuroacanthocytosis syndrome" @@ -14467,8 +14467,8 @@ "embryonic precursor of adult hindgut" "long bone" "ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features" - "uncultured Acidobacteria bacterium" "neogenin" + "uncultured Acidobacteria bacterium" "WD repeat-containing protein 26" "Cryptopygus antarcticus" "Anopheles arabiensis" @@ -14518,11 +14518,11 @@ "seed structure" "probable dimethyladenosine transferase measurement" "obsolete_ring chromosome 14" + "HS-68 cell" "obsolete prenatal benign hypophosphatasia" "benign phyllodes tumor" "Delirium" "X-14977--vanillin measurement" - "HS-68 cell" "immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte" "cadmium atom" "chewing tobacco behavior" @@ -14533,11 +14533,11 @@ "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" "acute salpingo-oophoritis" "precuneus cortex volume measurement"@en - "obsolete_glycogen storage disease due to lactate dehydrogenase M-subunit deficiency" "level of transcription intermediary factor 1-beta in blood serum" "leg" "peptidoglycan recognition protein 4" "substantia nigra and ventral tegmental area" + "obsolete_glycogen storage disease due to lactate dehydrogenase M-subunit deficiency" "emotional symptom measurement" "hypogonadotropic hypogonadism 5 with or without anosmia" "Mikati-Najjar-Sahli syndrome" @@ -14562,9 +14562,9 @@ "osteopathia striata with cranial sclerosis" "obsolete_hypothyroidism due to TSH receptor mutations" "obsolete_hereditary methemoglobinemia" + "obsolete_Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement" "escherichia seropositivity" "obsolete Abnormality of the bronchi" - "obsolete_Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement" "level of dihydropyrimidinase in blood serum" "dystrotelin" "5 prime tag" @@ -14614,9 +14614,9 @@ "Amapari virus" "level of gap junction alpha-8 protein in blood serum" "mixed neoplasm" - "obsolete_Nervous system anomaly with eye involvement" "Aniridia - ptosis - intellectual disability - familial obesity" "level of neuroendocrine convertase 1 in blood serum" + "obsolete_Nervous system anomaly with eye involvement" "NCI-H1373" "dorsal prothoracic pharyngeal muscle" "cholesterol to total lipids in chylomicrons and extremely large VLDL percentage " @@ -14653,10 +14653,10 @@ "level of regenerating islet-derived protein 3-gamma in blood serum" "ubiquinone biosynthetic process" "level of tetratricopeptide repeat protein 9A in blood serum" - "obsolete_mesomelic dwarfism, Nievergelt type" "obsolete_4-hydroxybutyric aciduria" - "sulfate transporter-related osteochondrodysplasia"@en + "obsolete_mesomelic dwarfism, Nievergelt type" "immunoglobulin lambda-like polypeptide 1 measurement" + "sulfate transporter-related osteochondrodysplasia"@en "infantile-onset mesial temporal lobe epilepsy with severe cognitive regression" "benign neoplasm of neck" "obsolete_pharyngeal arch cartilage" @@ -14710,16 +14710,16 @@ "Severe achondroplasia - developmental delay - acanthosis nigricans" "CD14 molecule" "induced myeloid leukemia cell differentiation protein Mcl-1 measurement" - "ChIP" "HITS-KIN" + "ChIP" "bromochloroacetic acid" "hypermanganesemia with dystonia 2" "Candidatus Pelagibacter ubique HTCC1062" "GTP-binding protein REM 1" "GM17148" "Talipes" - "macular dystrophy with or without cone dysfunction" "obsolete_Partington syndrome" + "macular dystrophy with or without cone dysfunction" "obsolete_familial thrombocytosis" "Kidney Cyst" "RDH5-related retinopathy" @@ -14758,9 +14758,9 @@ "obsolete_dentin dysplasia" "level of bone morphogenetic protein 3 in blood serum" "E3 ISG15--protein ligase HERC5" - "obsolete_congenital amegakaryocytic thrombocytopenia" "level of Xaa-Pro aminopeptidase 3 in blood serum" "gRNA-seq" + "obsolete_congenital amegakaryocytic thrombocytopenia" "L-urobilin measurement" "transitional cell neoplasm" "Charcot-Marie-Tooth disease, dominant intermediate G" @@ -14894,8 +14894,8 @@ "B-cell antigen receptor complex-associated protein alpha chain measurement" "MBD-seq" "obsolete partial duplication of the long arm of chromosome 11" - "phosphoribosyl pyrophosphate synthase-associated protein 1" "hypertensive retinopathy" + "phosphoribosyl pyrophosphate synthase-associated protein 1" "obsolete_rat strain" "trimethylbenzene" "hemoglobinuria" @@ -14944,8 +14944,8 @@ "CS57630" "ischemic bowel disorder" "Poor speech" - "protocadherin gamma-A10" "obsolete_X-linked complicated corpus callosum dysgenesis" + "protocadherin gamma-A10" "central nervous system toxicity" "autosomal recessive nonsyndromic hearing loss 2" "prostate intraepithelial neoplasia" @@ -14996,8 +14996,8 @@ "obsolete_spinocerebellar ataxia type 1" "Arabidopsis halleri" "Juberg-Hayward syndrome" - "response to antimetabolite" "pancytopenia-developmental delay syndrome" + "response to antimetabolite" "precursor T-cell lymphoblastic leukemia-lymphoma" "nucleoside phosphate metabolic process" "neuronal tumor" @@ -15083,9 +15083,9 @@ "Genetic susceptibility to infections due to particular pathogens" "Lethal restrictive dermopathy" "GM17233" + "type 1 diabetes nephropathy" "obsolete_presumptive spinal cord" "systemic mycosis" - "type 1 diabetes nephropathy" "mirror movements 2" "autosomal dominant pure spastic paraplegia" "switch-associated protein 70 measurement" @@ -15135,10 +15135,10 @@ "obsolete_isolated Dandy-Walker malformation without hydrocephalus" "viral RNA data" "Gliosis" + "obsolete_corneal-cerebellar syndrome" "Non-dystrophic myopathy with collagen 6 anomaly" "Appendix Adenocarcinoma" "hepatic and glial cell adhesion molecule" - "obsolete_corneal-cerebellar syndrome" "obsolete_mucopolysaccharidosis type 6, rapidly progressing" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1" "KBM-3"@en @@ -15179,9 +15179,9 @@ "malignant phyllodes tumor" "Patski" "Long toe" - "toxic epidermal necrolysis" "sphingomyelin 18:0" "craniomicromelic syndrome" + "toxic epidermal necrolysis" "episodic ataxia type 8" "FAIRE-seq" "obsolete_progressive deafness with stapes fixation" @@ -15201,10 +15201,10 @@ "parasympatholytic" "breast tumor luminal" "isolated lissencephaly type 1 without known genetic defects" - "3-ethylcatechol sulfate (1) measurement" "HCC1569" "notochord" "CD1a-positive Langerhans cell" + "3-ethylcatechol sulfate (1) measurement" "purine nucleoside phosphorylase" "UBOC1" "large ribosomal subunit protein bL12m" @@ -15249,9 +15249,9 @@ "synovial membrane" "SYNCRIP-related neurodevelopmental disorder" "Magnetospirillum magneticum AMB-1" - "crypt" "obsolete_Beckwith-Wiedemann syndrome due to 11p15 microduplication" "phosphatidylcholine diacyl C28:1 measurement" + "crypt" "ceftriaxone" "ACCES syndrome" "obsolete_cobblestone lissencephaly without muscular or ocular involvement" @@ -15312,9 +15312,9 @@ "X-23787 measurement" "obsolete_SHOX-related short stature" "obsolete_adrenal cortex" - "Progéria - short stature - pigmented nevi" "myc target protein 1 measurement" "DCN1-like protein 2" + "Progéria - short stature - pigmented nevi" "obsolete_carnitine palmitoyl transferase II deficiency, neonatal form" "disorder of metabolite absorption and transport" "mastectomy"@en @@ -15367,10 +15367,10 @@ "ornithine transcarbamylase, mitochondrial" "paroxysmal extreme pain disorder" "epidural abscess" - "Flavobacteriaceae Infections" "7-methylpyrido34-cpsoralen measurement" "hyper-IgM syndrome type 2" "obesity due to SIM1 deficiency" + "Flavobacteriaceae Infections" "complement C3B measurement" "Double inlet left ventricle" "1-arachidonoyl-GPE (20:4n6) measurement" @@ -15380,10 +15380,10 @@ "histone acetyltransferase kat6a measurement" "level of heat shock protein HSP 90-alpha in blood serum" "level of proteasome subunit beta type-3 in blood serum" - "obsolete_maternally-inherited diabetes and deafness" "obsolete cytoplasmic part" "testis-expressed protein 29" "response to diisocyanate" + "obsolete_maternally-inherited diabetes and deafness" "fibronectin seropositivity" "homeobox protein Mohawk" "T cell immunoreceptor with Ig and ITIM domains" @@ -15450,9 +15450,9 @@ "short rib-polydactyly syndrome, Majewski type" "neurodegeneration with brain iron accumulation 8" "Autosomal dominant Charcot-Marie-Tooth disease type 2L" - "tyrosine-protein phosphatase non-receptor type 6 measurement" "obsolete_platyspondylic dysplasia, Torrance type" "2'-5'-oligoadenylate synthase 1 measurement" + "tyrosine-protein phosphatase non-receptor type 6 measurement" "spondyloepimetaphyseal dysplasia, matrilin-3 type" "astaxanthin measurement" "linguistic error measurement" @@ -15481,9 +15481,9 @@ "obsolete deafness-onychodystrophy syndrome" "nuclear receptor-interacting protein 3" "cholesteryl ester 22:0 measurement" - "obsolete_Jacobsen syndrome" "LK-2" "N-acetylaspartate deficiency" + "obsolete_Jacobsen syndrome" "fibrodysplasia ossificans progressiva" "NCI-H1435" "Haemonchus contortus" @@ -15492,9 +15492,9 @@ "4-Pyridoxic acid measurement" "obsolete_thyroid hypoplasia" "fibronectin measurement" + "obsolete_Tay-Sachs disease, b variant, adult form" "shRNA-seq" "obsolete isolated Klippel-Feil syndrome" - "obsolete_Tay-Sachs disease, b variant, adult form" "ovarian serous tumor" "Charcot-Marie-Tooth disease type 4F" "laryngeal sarcoma" @@ -15512,8 +15512,8 @@ "liver disease biomarker" "intestinal polyp" "cation-dependent mannose-6-phosphate receptor measurement" - "obsolete_benign familial nocturnal alternating hemiplegia of childhood" "insect visual primordium" + "obsolete_benign familial nocturnal alternating hemiplegia of childhood" "cubilin measurement" "Rhodopseudomonas palustris" "Abnormality of the kidney" @@ -15548,8 +15548,8 @@ "X inactivation, familial skewed, 1" "cadmium chloride measurement"@en "subacute bacterial endocarditis" - "UL16-binding protein 2" "A2780" + "UL16-binding protein 2" "ATTRV122I amyloidosis" "chronic respiratory distress with surfactant metabolism deficiency" "Autosomal dominant cerebellar ataxia type 2" @@ -15575,9 +15575,9 @@ "diacylglycerol (14:0/18:1, 16:0/16:1) [2] measurement" "abdominal fat ratio"@en "QRS amplitude" + "palmitoylcarnitine measurement" "dermal dendritic cell" "brain acid soluble protein 1" - "palmitoylcarnitine measurement" "Glucocorticoid use measurement" "obsolete_bleeding diathesis due to thromboxane synthesis deficiency" "Niemann-Pick disease" @@ -15593,8 +15593,8 @@ "Pierre Robin syndrome associated with miscellaneous anomalies" "Teleopsis thaii" "Umbilical hernia" - "PA-TU-8988S" "obsolete_3-hydroxyisobutyric aciduria" + "PA-TU-8988S" "congenital hereditary endothelial dystrophy of cornea" "mucoepidermoid carcinoma of submandibular gland" "Kidney Medullary Carcinoma" @@ -15646,10 +15646,10 @@ "cullin-3 measurement" "octadecenedioylcarnitine (C18:1-DC) measurement" "obsolete_Oci-Ly-3" + "cervical disc degenerative disorder" "chromosome 15 disorder" "susceptibility to respiratory infections associated with CD8alpha chain mutation" "obsolete_pharyngeal pouch 3" - "cervical disc degenerative disorder" "ankyloglossia" "adenylosuccinate synthetase isozyme 1" "NAD kinase measurement" @@ -15664,10 +15664,10 @@ "Ullrich congenital muscular dystrophy 1A" "obsolete respiratory malformation" "kidney papillary necrosis" - "obsolete_spinocerebellar ataxia type 2" "level of transitional endoplasmic reticulum ATPase in blood serum" "methionine S-oxide" "1-acylglycerol-3-phosphate O-acyltransferase ABHD5" + "obsolete_spinocerebellar ataxia type 2" "RNAlater specimen" "Holoprosencephaly - radial heart renal anomalies" "lissencephaly 10" @@ -15716,8 +15716,8 @@ "childhood epilepsy with centrotemporal spikes" "immature NK T cell stage I" "level of 26S proteasome non-ATPase regulatory subunit 9 in blood serum" - "obsolete_megalencephalic leukoencephalopathy with subcortical cysts" "mitochondrial import inner membrane translocase subunit Tim23" + "obsolete_megalencephalic leukoencephalopathy with subcortical cysts" "GM23338" "calcium-binding protein 8" "3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial" @@ -15782,9 +15782,9 @@ "CLASH" "3T3-F442A" "level of PRKC apoptosis WT1 regulator protein in blood serum" - "Epidermolysis bullosa simplex with circinate migratory erythema" "Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency" "3-4-hydroxyphenyl lactate-to-alpha-hydroxyisovalerate ratio"@en + "Epidermolysis bullosa simplex with circinate migratory erythema" "maxillary sinus inverted papilloma" "retinal edema" "Genetic skeletal muscle disease" @@ -15801,14 +15801,14 @@ "level of talin-2 in blood serum" "cognitive disorder" "severe ichthyosis vulgaris" - "obsolete_congenital myasthenic syndromes with glycosylation defect" "4T1" + "obsolete_congenital myasthenic syndromes with glycosylation defect" "translin measurement" "fatal familial insomnia" - "Pavo cristatus" "Qualitative or quantitative defects of collagen 6" - "level of ubiquitin carboxyl-terminal hydrolase 8 in blood serum" + "Pavo cristatus" "glycylvaline measurement" + "level of ubiquitin carboxyl-terminal hydrolase 8 in blood serum" "interleukin-23 measurement" "laurin-Sandrow syndrome" "GM17793" @@ -15825,10 +15825,10 @@ "neoplasm of temporal lobe" "cotyledon abaxial epidermis" "autosomal recessive complex spastic paraplegia" - "small intestine Peyer's patch T cell" "Wieacker-Wolff syndrome (spectrum)" - "Fc receptor-like protein 3 measurement" + "small intestine Peyer's patch T cell" "Kasumi2" + "Fc receptor-like protein 3 measurement" "killer cell immunoglobulin-like receptor 3DL1" "skin infection" "disorder of manganese transport" @@ -15949,20 +15949,20 @@ "de Barsy syndrome" "Rare genetic bone disease" "thyroid peroxidase measurement" - "HDL cholesterol change measurement" "level of tripartite motif-containing protein 55 in blood serum" "phosphopentomutase" "obsolete_articular cartilage" + "HDL cholesterol change measurement" "silver-Russell syndrome due to maternal uniparental disomy of chromosome 11" "obsolete intestinal malformation" "immunoglobulin-binding protein 1" "obsolete_bronchial epithelium" "developmental delay, impaired speech, and behavioral abnormalities, with or without seizures" "Helicobacter pylori" - "obsolete_cholesterol-ester transfer protein deficiency" "short stature-heart defect-craniofacial anomalies syndrome" "colon sarcoma" "antigen-presenting glycoprotein CD1d" + "obsolete_cholesterol-ester transfer protein deficiency" "GM14475" "lateral epicondylitis" "hemochromatosis" @@ -15997,10 +15997,10 @@ "X-23974 measurement" "Aristolochia fimbriata" "myelin protein P0 measurement" + "elongation factor 1-beta measurement" "DCN1-like protein 3" "retroarticular" "autosomal dominant wooly hair" - "elongation factor 1-beta measurement" "level of putative melanoma-associated antigen 5P in blood serum" "Sickle cell - hemoglobin E disease" "obsolete_genetic vascular anomaly" @@ -16086,8 +16086,8 @@ "pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5" "phyllome" "holoprosencephaly 14" - "3-carboxy-4-methyl-5-propyl-2-furanpropanoate CMPF measurement" "CD8_alpha-low Langerhans cell" + "3-carboxy-4-methyl-5-propyl-2-furanpropanoate CMPF measurement" "GM21786" "obsolete_Huntington disease-like 1" "obsolete_THP1" @@ -16141,8 +16141,8 @@ "immune system organ benign neoplasm" "opercular lateral line neuromast" "level of serine/threonine-protein phosphatase 1 regulatory subunit 10 in blood serum" - "experimental stage" "level of Ceramide (d42:2) in blood serum" + "experimental stage" "level of zinc finger CCHC domain-containing protein 18 (human) in blood serum" "CS57569" "level of macoilin in blood serum" @@ -16160,8 +16160,8 @@ "obsolete_49,XXXXY syndrome" "episodic ataxia type 5" "obsolete_pseudohyperaldosteronism type 2" - "obsolete_pancytopenia-developmental delay syndrome" "hereditary geniospasm" + "obsolete_pancytopenia-developmental delay syndrome" "3-Indolepropionic acid to N,N-Dimethylglycine ratio" "level of phosphatidylcholine transfer protein in blood serum" "mature CD11c-low plasmacytoid dendritic cell" @@ -16171,11 +16171,11 @@ "Hb Bart's hydrops fetalis" "CMRF35-like molecule 8" "intellectual developmental disorder with macrocephaly, seizures, and speech delay" + "alpha-CEHC glucuronide measurement" "adenylate kinase 4, mitochondrial" - "level of aminopeptidase N in blood serum" "cancer cell line sample" + "level of aminopeptidase N in blood serum" "muscular pseudohypertrophy-hypothyroidism syndrome" - "alpha-CEHC glucuronide measurement" "syntactic complexity measurement" "serous neoplasm" "basophilic promyelocyte" @@ -16218,8 +16218,8 @@ "aarF domain-containing protein kinase 4 measurement" "ficolin-1 measurement" "obsolete_Machado-Joseph disease type 3" - "transmembrane protein 154" "obsolete_hyper-IgM syndrome type 2" + "transmembrane protein 154" "obsolete_LMNA-related cardiocutaneous progeria syndrome" "Toledo" "obsolete_type II diabetes mellitus" @@ -16364,8 +16364,8 @@ "sarcomatoid transitional cell carcinoma" "obsolete_occipital lobe" "BRCA1-related cancer predisposition" - "Liddle syndrome" "Ethmoid Sinus Adenoid Cystic Carcinoma" + "Liddle syndrome" "(N(omega)-L-arginino)succinic acid" "folate intake measurement"@en "chromosome 16 disorder" @@ -16463,8 +16463,8 @@ "congenital heart defects and skeletal malformations syndrome" "obsolete_freckling" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8" - "IHKE-1" "sialic acid synthase" + "IHKE-1" "SK-ES-1" "level of killer cell immunoglobulin-like receptor 2DL3 in blood serum" "dilated cardiomyopathy 1M" @@ -16578,8 +16578,8 @@ "Pectobacterium carotovorum infection" "Amish nemaline myopathy" "nebulin-related early-onset distal myopathy" - "AG10941" "eosinophilic gastroenteritis" + "AG10941" "GM09585" "myristoleoylcarnitine (C14:1) measurement" "short stature-valvular heart disease-characteristic facies syndrome" @@ -16619,15 +16619,15 @@ "Tumor necrosis factor receptor 1 associated periodic syndrome" "free cholesterol in IDL measurement" "HCC1954" - "obsolete_genetic nail anomaly" "obsolete_pituitary stalk interruption syndrome" + "obsolete_genetic nail anomaly" "obsolete_pure or complex autosomal recessive spastic paraplegia" - "level of coiled-coil domain-containing protein 69 in blood serum" "obsolete_Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia" + "level of coiled-coil domain-containing protein 69 in blood serum" + "3-hydroxybutyrate change measurement" "in situ sequencing" "small integral membrane protein 9" "Anterior creases of earlobe" - "3-hydroxybutyrate change measurement" "Non-steroidal anti-inflammatory and antirheumatic product use measurement" "Streptococcus sanguinis" "knee" @@ -16681,8 +16681,8 @@ "mature gamma-delta T cell" "homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein" "acute pericementitis" - "carbohydrate measurement" "level of ankyrin repeat and SAM domain-containing protein 3 in blood serum" + "carbohydrate measurement" "cotyledon adaxial epidermis" "esophagus sarcoma" "gastroesophageal disease" @@ -16696,9 +16696,9 @@ "psychotic symptoms" "trait in response to terbinafine" "obsolete_aldosterone-producing adenoma with seizures and neurological abnormalities" - "alpha-2-macroglobulin measurement" "corpus allatum" "level of meprin A subunit alpha in blood serum" + "alpha-2-macroglobulin measurement" "qualitative or quantitative defects of telethonin" "cystathionine beta-synthase measurement" "recessive dystrophic epidermolysis bullosa" @@ -16722,8 +16722,8 @@ "Rho-associated protein kinase 2" "obsolete_Tolosa-Hunt syndrome" "X-linked spinocerebellar ataxia type 4" - "Seckel syndrome 8" "obsolete_Tay-Sachs disease" + "Seckel syndrome 8" "Gastrostomy tube feeding in infancy" "obsolete_auriculocondylar syndrome" "neuronopathy, distal hereditary motor, type 5" @@ -16770,10 +16770,10 @@ "Fibrofolliculoma" "level of heat shock 70 kDa protein 13 in blood serum" "NCI-H2452" + "acetylcholine-gated monoatomic cation-selective channel activity" "obsolete intracellular organelle part" "DOMON domain-containing protein FRRS1L" "Culex quinquefasciatus" - "acetylcholine-gated monoatomic cation-selective channel activity" "probable RNA-binding protein EIF1AD measurement" "obsolete_pituitary deficiency" "obsolete_pectoral fin musculature" @@ -16799,9 +16799,9 @@ "transcriptional adapter 1-like protein" "obsolete non-syndromic esophageal malformation" "short stature and microcephaly with genital anomalies" + "level of zinc finger protein 843 in blood serum" "familial scaphocephaly syndrome, McGillivray type" "cardiomyopathy, dilated, 2G" - "level of zinc finger protein 843 in blood serum" "immature CD1a-positive Langerhans cell" "dodecanedioate measurement" "anterior lateral line nerve" @@ -16852,11 +16852,11 @@ "cytochrome c oxidase subunit 5A, mitochondrial" "level of Rho GTPase-activating protein 25 in blood serum" "endoplasmic reticulum resident protein 29 measurement" - "bone benign neoplasm" "vascular smooth muscle hypertrophy" + "bone benign neoplasm" "nucleus of medial longitudinal fasciculus of medulla" - "level of Ceramide (d42:1) in blood serum" "high content screening stage" + "level of Ceramide (d42:1) in blood serum" "level of transmembrane protein 225B (human) in blood serum" "Multiple prenatal fractures" "level of transmembrane protein 59-like in blood serum" @@ -16905,8 +16905,8 @@ "level of heat shock 70 kDa protein 6 in blood serum" "GM17761" "transcription factor ETV7" - "methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial" "vitamin D metabolic process quality" + "methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial" "Genetic neurodegenerative disease with dementia" "level of spliceosome RNA helicase BAT1 in blood serum" "Distal myotilinopathy" @@ -17109,12 +17109,12 @@ "White matter hypoplasia - corpus callosum agenesis - intellectual disability" "oculogastrointestinal muscular dystrophy" "lisinopril measurement" + "genetic non-acquired premature ovarian failure"@en "obsolete_head mesoderm anlage" "Theiler stage 24" - "genetic non-acquired premature ovarian failure"@en + "hepatitis B virus induced hepatocellular carcinoma" "peritonsillar abscess" "septum of telencephalon" - "hepatitis B virus induced hepatocellular carcinoma" "Schinzel-Giedion syndrome" "spondyloepimetaphyseal dysplasia, Handigodu type" "AB SOLiD System 3.0" @@ -17134,12 +17134,12 @@ "collagen alpha-2(XI) chain measurement" "dihomo-linolenate 20:3n3 or n6 measurement" "temporal lobe cancer" + "Antiglaucoma preparations and miotics use measurement" "renal pelvis inverted papilloma" "Aplasia/Hypoplasia of the cerebellum" "valine--tRNA ligase" - "Antiglaucoma preparations and miotics use measurement" - "microcephaly, short stature, and limb abnormalities" "lung disease severity measurement" + "microcephaly, short stature, and limb abnormalities" "obsolete_Li-Fraumeni syndrome" "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" "infectious otitis media" @@ -17195,15 +17195,15 @@ "obsolete inherited digestive tract tumor" "level of transmembrane emp24 domain-containing protein 10 in blood serum" "obsolete_glucose transport disorder" - "serine/threonine-protein kinase ULK3" "Dolichocephaly" "disorder of methylamine metabolism" + "serine/threonine-protein kinase ULK3" "basic salivary proline-rich protein 4 measurement" "Teleopsis whitei" "E3 ubiquitin-protein ligase RBBP6 measurement" "obsolete_PFAPA syndrome" - "trichodysplasia-xeroderma syndrome" "3-Indolepropionic acid to Methylmalonic acid ratio" + "trichodysplasia-xeroderma syndrome" "interleukin-3 measurement" "alternating hemiplegia" "myofibrillar myopathy 10" @@ -17245,8 +17245,8 @@ "obsolete_spinocerebellar ataxia type 6" "inflammation of heart layer" "destrin" - "obsolete_resistance to thyrotropin-releasing hormone syndrome" "obsolete_pontocerebellar hypoplasia type 5" + "obsolete_resistance to thyrotropin-releasing hormone syndrome" "serine/threonine-protein kinase 16 measurement" "Yunis-Varon syndrome" "obsolete_malignant epithelial tumor of ovary" @@ -17334,10 +17334,10 @@ "somatostatinoma" "ABCD syndrome" "obsolete_progeria-associated arthropathy" - "Cronobacter dublinensis" "grade III meningioma" - "anus cancer" + "Cronobacter dublinensis" "chondroblastoma" + "anus cancer" "biotin-responsive basal ganglia disease" "actin-related protein 2/3 complex subunit 5" "Perturb-Seq" @@ -17382,8 +17382,8 @@ "alpha-L-iduronidase measurement" "Hogue-Janssens syndrome 1" "level of Ras-related protein Rab-17 in blood serum" - "vulvar liposarcoma" "pancreatic gastrinoma" + "vulvar liposarcoma" "Gräsbeck-Imerslund disease" "N-acetylneuraminate measurement"@en "67NR" @@ -17452,9 +17452,9 @@ "late cornified envelope protein 3B" "resistance training" "passage number" + "obsolete_neurofibromatosis type 3" "insulin-like growth factor-binding protein-like 1 measurement" "N2-methylguanosine measurement" - "obsolete_neurofibromatosis type 3" "NCI-H2461" "meconium aspiration syndrome" "ubiquitin-conjugating enzyme E2 C" @@ -17511,11 +17511,11 @@ "4-methoxyphenol sulfate measurement" "obsolete_cardiospondylocarpofacial syndrome" "lateral line ganglion" - "obsolete_congenital microcoria" "animal allergen seropositivity" - "X-11478 measurement" + "obsolete_congenital microcoria" "obsolete_anterior lateral line system" "establishment of localization in cell" + "X-11478 measurement" "red blood cell density measurement" "Charlevoix-Saguenay spastic ataxia" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" @@ -17557,8 +17557,8 @@ "cervical spina bifida aperta" "icosanoate" "aspartoacylase" - "methapyrilene" "3-Indolepropionic acid to 2-(dimethylamino) guanosine ratio" + "methapyrilene" "folding of antihelix" "central polydactyly of fingers" "obsolete_acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" @@ -17762,8 +17762,8 @@ "carnitine measurement"@en "immature platelet measurement" "obsolete_Pai syndrome" - "malignant germ cell tumor of ovary" "nasopharynx" + "malignant germ cell tumor of ovary" "Laryngeal cleft" "mitochondrial fission regulator 1" "Burkholderia ambifaria" @@ -17805,8 +17805,8 @@ "Eucalyptus nitens" "Pimephales promelas" "young-onset Parkinson disease" - "immunodeficiency, common variable, 14" "obsolete_isolated dystonia" + "immunodeficiency, common variable, 14" "hepatitis C virus induced hepatocellular carcinoma" "sodium channel subunit beta-4" "partial deletion of the long arm of chromosome 15" @@ -17892,8 +17892,8 @@ "cerebellar ataxia" "autosomal recessive intermediate Charcot-Marie-Tooth disease" "protein assay" - "ochratoxin A" "male infertility due to globozoospermia" + "ochratoxin A" "Smart-seq3"@en "level of SH2 domain-containing protein 1B in blood serum" "SCN4A-related channelopathy" @@ -18024,10 +18024,10 @@ "LRP5-related primary osteoporosis" "Trichoderma reesei QM6a" "CS57850" - "level of small RNA 2'-O-methyltransferase in blood serum" "obsolete_short stature, Brussels type" - "bilateral microtia-deafness-cleft palate syndrome" + "level of small RNA 2'-O-methyltransferase in blood serum" "obsolete_complement component 3 deficiency" + "bilateral microtia-deafness-cleft palate syndrome" "phakomatosis pigmentovascularis" "Lilium regale" "Alar cartilages hypoplasia - coloboma - telecanthus" @@ -18113,8 +18113,8 @@ "shoot apex" "choroid cancer" "eukaryotic translation initiation factor 5A-1 measurement" - "level of trem-like transcript 2 protein in blood serum" "obsolete alpha-crystallinopathy" + "level of trem-like transcript 2 protein in blood serum" "level of glutaredoxin-related protein 5 in blood serum" "sapropterin" "obsolete_plant embryo" @@ -18149,9 +18149,9 @@ "Glycogen storage disease due to acid maltase deficiency, juvenile onset" "Beckwith-Wiedemann syndrome" "Bacillus anthracis" + "ectodermal dysplasia and immunodeficiency 1" "obsolete_non-distal monosomy 12q" "level of kinetochore protein Spc25 in blood serum" - "ectodermal dysplasia and immunodeficiency 1" "chlorpropamide" "total cholesterol in medium LDL" "Cockayne syndrome type 2" @@ -18233,8 +18233,8 @@ "EPHB4-associated vascular malformation spectrum" "obsolete_posterior lateral line system" "obsolete_22q11.2 deletion syndrome" - "childhood trauma measurement" "obsolete_incontinentia pigmenti achromians" + "childhood trauma measurement" "D,L-2-hydroxyglutaric aciduria" "thyrocerebrorenal syndrome" "DNA ligase IV deficiency" @@ -18242,8 +18242,8 @@ "level of Ras-related protein Rab-1A in blood serum" "NACHT, LRR and PYD domains-containing protein 1" "obsolete_autosomal recessive cutis laxa type 2" - "transmembrane protein 132A" "N-acetyltaurine measurement"@en + "transmembrane protein 132A" "SHAPE-MaP" "subthalamic nucleus" "ulna fracture" @@ -18304,15 +18304,15 @@ "Spermophilus tridecemlineatus" "synaptotagmin-1" "ribosomal protein S6 kinase beta-1" - "ubiquitin-like domain-containing CTD phosphatase 1" "Alpha-thalassemia - X-linked intellectual disability syndrome" + "ubiquitin-like domain-containing CTD phosphatase 1" "brevican core protein measurement" "primary cutaneous lymphoma" "presumptive rhombomere 7" "obsolete_severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency" "MT2 cell" - "L-2-aminobutyrate" "mitofusin-1" + "L-2-aminobutyrate" "sulcal opening distance"@en "DU 145" "plasma clozapine measurement" @@ -18331,10 +18331,10 @@ "obsolete_Vitamin B12-unresponsive methylmalonic acidemia" "X-linked intellectual disability - spastic quadriparesis" "A172" + "hemorrhagic stroke"@en "post-operative sensory disturbance" "spinal muscular atrophy-progressive myoclonic epilepsy syndrome" "acquired mineral metabolism disease" - "hemorrhagic stroke"@en "klotho" "N-desmethyltoremifene measurement" "level of protein WFDC11 in blood serum" @@ -18387,8 +18387,8 @@ "intellectual disability-myopathy-short stature-endocrine defect syndrome" "somatosensory cortex" "squamous cell neoplasm" - "endothelial cell of respiratory system lymphatic vessel"@en "skeletal tuberculosis" + "endothelial cell of respiratory system lymphatic vessel"@en "exfoliative dermatitis" "Streptomyces reticuliscabiei" "level of zona pellucida-binding protein 1 in blood serum" @@ -18478,9 +18478,9 @@ "obsolete_hereditary palmoplantar keratoderma, Gamborg-Nielsen type" "GATA zinc finger domain-containing protein 1" "adenocarcinoma in situ" + "non-distal monosomy 12q" "mandibular hypoplasia-deafness-progeroid syndrome" "nucleate erythrocyte" - "non-distal monosomy 12q" "obsolete_inner ear structure" "obsolete_cambium" "eunuchism" @@ -18506,8 +18506,8 @@ "blepharocheilodontic syndrome" "Fc receptor-like protein 1" "level of TraB domain-containing protein in blood serum" - "bud" "atazanavir measurement" + "bud" "Gastrointestinal inflammation" "obsolete_congenital primary megaureter, refluxing form" "acute dacryoadenitis" @@ -18544,8 +18544,8 @@ "Cementoma" "deltoid" "collectin-10" - "interferon alpha/beta receptor 1 measurement" "acidosis" + "interferon alpha/beta receptor 1 measurement" "spermatogenic failure 20" "exudative vitreoretinopathy" "short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis" @@ -18676,10 +18676,10 @@ "Waardenburg syndrome type 3" "Premature thelarche" "Impaired thrombin-induced platelet aggregation" - "obsolete_infantile glycine encephalopathy" "level of histatin-1 in blood serum" "level of ATPase GET3 in blood serum" "catenin alpha-2 measurement" + "obsolete_infantile glycine encephalopathy" "PI-PLC X domain-containing protein 3" "C3A" "obsolete Mendelian syndromes with cleft lip/palate" @@ -18688,8 +18688,8 @@ "neuron-specific vesicular protein calcyon" "methylmalonic aciduria and homocystinuria type cblF" "metformin measurement" - "obsolete_sensory nervous system primordium" "level of triggering receptor expressed on myeloid cells 2 in blood serum" + "obsolete_sensory nervous system primordium" "X-10395 measurement" "N,N,N-trimethyl-5-aminovalerate measurement" "BSC-40" @@ -18807,8 +18807,8 @@ "bovine respiratory disease complex" "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)" "substance-related disorder" - "GM17242" "obsolete_Gorlin-Chaudhry-Moss syndrome" + "GM17242" "level of serine protease HTRA1 in blood serum" "level of aspartyl/asparaginyl beta-hydroxylase in blood serum" "Infantile dystonia-parkinsonism" @@ -18818,8 +18818,8 @@ "level of three prime repair exonuclease 2 in blood serum" "level of glutaminase kidney isoform, mitochondrial in blood serum" "Populus fremontii x Populus angustifolia" - "secondary avascular necrosis" "embryonal rhabdomyosarcoma" + "secondary avascular necrosis" "benign neoplasm of testis" "mycophenolate" "level of activin/inhibin beta C chain in blood serum" @@ -18843,8 +18843,8 @@ "Melkersson-Rosenthal syndrome" "chronic eosinophilic pneumonia" "spitz nevus" - "level of tyrosine-protein kinase Mer in blood serum" "unilateral retinoblastoma" + "level of tyrosine-protein kinase Mer in blood serum" "obsolete_multiple metaphyseal dysplasia" "ethmoidal sinus neoplasm" "X12442--5,8-tetradecadienoate measurement" @@ -18896,15 +18896,15 @@ "Parotid Gland Adenoid Cystic Carcinoma" "level of bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 in blood serum" "dopamine 3-O-sulfate measurement" - "plant allergen seropositivity" "intracellular organelle" + "plant allergen seropositivity" "chondrosarcoma" "labial sensory complex primordium" "C-type lectin domain family 4 member D" "RWPE1" - "Partial congenital cataract" "congenital disorder of glycosylation type II" "obsolete_fatal post-viral neurodegenerative disorder" + "Partial congenital cataract" "Cerebral disease with cataract" "response to flupirtine" "obsolete_capillary" @@ -18957,8 +18957,8 @@ "autopod" "transient neonatal multiple acyl-CoA dehydrogenase deficiency" "response to bevacizumab" - "obsolete_familial papillary thyroid carcinoma with renal papillary neoplasia" "inverted follicular keratosis" + "obsolete_familial papillary thyroid carcinoma with renal papillary neoplasia" "DNA repair protein RAD51 homolog 4 measurement" "Generalized myoclonic-atonic seizure" "Zea mays subsp. mexicana" @@ -18984,8 +18984,8 @@ "isolated congenital microcephaly" "X-linked mandibulofacial dysostosis" "Metaplastic Meningioma" - "sci-CAR" "gastric triacylglycerol lipase measurement" + "sci-CAR" "17alpha-ethynylestradiol" "obsolete_hemoglobin C disease" "spotted antibody reporter" @@ -18995,10 +18995,10 @@ "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E" "HEK-293A"@en "fractional excretion of magnesium measurement" - "2-linoleoyl-GPC (18:2) measurement" "hypotonia with lactic acidemia and hyperammonemia" - "lysophosphatidylethanolamine 17:0 measurement" + "2-linoleoyl-GPC (18:2) measurement" "level of BTB/POZ domain-containing protein KCTD4 in blood serum" + "lysophosphatidylethanolamine 17:0 measurement" "dermatomyositis" "Mode of inheritance" "Rajab interstitial lung disease with brain calcifications" @@ -19056,11 +19056,11 @@ "phosphatidylcholine acyl-alkyl C42:3 measurement" "autosomal dominant myoglobinuria" "Geobacillus sp. E263" - "N-hexadecanoylpyrrolidine measurement" "childhood testicular mixed germ cell cancer" "glycoprotein endo-alpha-1,2-mannosidase" "papillary adenoma" "transcription initiation factor TFIID subunit 10" + "N-hexadecanoylpyrrolidine measurement" "lung capillary endothelial cell"@en "sparganosis" "level of protein WFDC13 in blood serum" @@ -19142,8 +19142,8 @@ "spondylocostal dysostosis-anal and genitourinary malformations syndrome" "obsolete_lysosomal acid lipase deficiency" "kallikrein-4 measurement" - "combined oxidative phosphorylation deficiency 51" "chromosome 3q29 microdeletion syndrome" + "combined oxidative phosphorylation deficiency 51" "nuclear pore complex-interacting protein family member B3" "Thymoma Type B3" "level of neuromedin-S in blood serum" @@ -19167,8 +19167,8 @@ "short day length regimen" "gastroesophageal junction adenocarcinoma" "atrial fibrillation, familial, 10" - "obsolete_apical shoot meristem" "overweight body mass index status" + "obsolete_apical shoot meristem" "endothelial differentiation-related factor 1" "posterior cortical atrophy" "presumptive rhombomere 8" @@ -19219,18 +19219,18 @@ "obsolete_partial duplication of the long arm of chromosome 22" "level of cyclic AMP-dependent transcription factor ATF-1 in blood serum" "obsolete_metachromatic leukodystrophy" - "hemochromatosis type 4" "level of secretogranin-3 in blood serum" + "hemochromatosis type 4" "asbestos exposure measurement" "acute sphenoidal sinusitis" "Ehlers-Danlos syndrome, periodontitis type" "rough endoplasmic reticulum" "Rare non-syndromic cataract" "acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation" - "palmitoyl sphingomyelin (d18:1/16:0) measurement" "Afp-GFP" "Rat-2" "Anorexia" + "palmitoyl sphingomyelin (d18:1/16:0) measurement" "Vitreous floaters" "GM15215" "obsolete_precancerous lesion of palpebral epidermis" @@ -19252,10 +19252,10 @@ "obsolete_genetic head and neck malformation" "obsolete_SRD5A3-CDG" "obsolete_partial trisomy of the long arm of chromosome 16" - "small conductance calcium-activated potassium channel protein 1 measurement" "asparagine" - "X-18913 measurement" + "small conductance calcium-activated potassium channel protein 1 measurement" "pyruvate dehydrogenase E1-alpha deficiency" + "X-18913 measurement" "obsolete_atypical hemolytic-uremic syndrome" "substernal goiter" "kelch-like protein 13 measurement" @@ -19267,12 +19267,12 @@ "familial isolated arrhythmogenic ventricular dysplasia, biventricular form" "dodecadienoate (12:2) measurement" "congenital primary megaureter" + "thrombin generation potential measurement" "hand-foot-genital syndrome" "obsolete_floor plate rhombomere 5" "retinitis pigmentosa 32" "forelimb zeugopod" "level of phosphatidylinositol 5-phosphate 4-kinase type-2 beta in blood serum" - "thrombin generation potential measurement" "angiomotin" "non-small cell lung carcinoma" "Hyperandrogenism due to cortisone reductase deficiency" @@ -19325,9 +19325,9 @@ "penile neoplasm" "free cholesterol measurement" "lattice corneal dystrophy type I" - "kwashiorkor" "cAMP-dependent protein kinase type II-alpha regulatory subunit" "ovarian primitive germ cell tumor" + "kwashiorkor" "parietal cortex measurement" "distal monosomy 1q" "tigloylglycine measurement" @@ -19355,8 +19355,8 @@ "Staphylococcus aureus subsp. aureus RN4220" "squamous cell carcinoma of the small intestine" "NACHT, LRR and PYD domains-containing protein 4" - "common bile duct neoplasm" "marfanoid habitus-inguinal hernia-advanced bone age syndrome" + "common bile duct neoplasm" "Cyprinus carpio" "chromosome-type aberration frequency" "Paroxysmal Hemicrania" @@ -19429,8 +19429,8 @@ "Papio anubis" "megacystis-microcolon-intestinal hypoperistalsis syndrome" "sweat gland disease" - "methylmalonic aciduria and homocystinuria type cblC" "obsolete_adactyly of foot, bilateral" + "methylmalonic aciduria and homocystinuria type cblC" "obsolete_ventral sensory complex primordium" "obsolete_X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia" "X-10429 measurement" @@ -19440,8 +19440,8 @@ "monocyte percentage of leukocytes" "PK-45P" "obsolete_mucolipidosis type III" - "cardiac atrium" "blood viscosity" + "cardiac atrium" "sepiapterin reductase (NADP+) activity" "athletic endurance measurement" "obsolete_TRPV4-related bone disorder" @@ -19615,15 +19615,15 @@ "G44" "retinol dehydrogenase 12" "Leri pleonosteosis" - "obsolete_central polydactyly of fingers, unilateral" "Chondroid Chordoma" "alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B measurement" + "obsolete_central polydactyly of fingers, unilateral" + "potassium deficiency" "vulvar leiomyoma" "renal hypoplasia, bilateral" "triacylglycerol 48:0" - "potassium deficiency" - "C3H10T1/2" "Malignant Bone Neoplasm" + "C3H10T1/2" "level of ERO1-like protein beta in blood serum" "immunodeficiency 25" "allergic respiratory disease" @@ -19632,10 +19632,10 @@ "level of BAG family molecular chaperone regulator 5 in blood serum" "axon" "Posterior polar cataract" + "X-12038 measurement" "lichen planus, familial" "insulin-like growth factor-binding protein complex acid labile chain" "T3 B cell" - "X-12038 measurement" "central hypoventilation syndrome, late-onset"@en "SiMSen-Seq" "level of DnaJ homolog subfamily C member 12 in blood serum" @@ -19722,11 +19722,11 @@ "Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency" "Actinobacillus pleuropneumoniae serovar 5" "obsolete_seq instrument model" + "peroxisomal membrane protein PEX14 measurement" "carbon dioxide" + "SPLASH" "level of oxytocin-neurophysin 1 in blood serum" - "peroxisomal membrane protein PEX14 measurement" "PWWP domain-containing protein 2B" - "SPLASH" "APOBEC1 complementation factor" "Broad toe" "obsolete_Curry-Jones syndrome" @@ -19754,8 +19754,8 @@ "level of aldo-keto reductase family 1 member B10 in blood serum" "spastic paraplegia 70, autosomal recessive" "phosphatidylcholine acyl-alkyl C42:4 measurement" - "childhood embryonal testis carcinoma" "lipid" + "childhood embryonal testis carcinoma" "diazoxide-resistant hyperinsulinism" "embryonal Fyn-associated substrate" "fallopian tube papilloma" @@ -19776,9 +19776,9 @@ "period of infection" "obsolete atypical chronic myeloid leukemia" "spotted protein reporter" - "external ear disease" "sign or symptom" "simple cystadenoma" + "external ear disease" "Complete duplication of thumb phalanx" "elephantiasis" "X-linked intellectual disability, Vitale type" @@ -19787,15 +19787,15 @@ "embryonic anal pad" "spina bifida cystica" "Constitutional deficiency anemia" - "optimization design" "obsolete_response to zileuton" + "optimization design" "multiple intestinal atresia" "Thrombophlebitis" "head injury" "Silver-Russell syndrome due to a point mutation" - "obsolete_familial or sporadic hemiplegic migraine" "irritant dermatitis" "Charcot-Marie-Tooth disease dominant intermediate F" + "obsolete_familial or sporadic hemiplegic migraine" "gastric carcinoma" "muscular dystrophy-dystroglycanopathy type B5" "microliter" @@ -19833,9 +19833,9 @@ "level of pleckstrin homology domain-containing family B member 1 in blood serum" "Thymoma Type B1" "developmental stage" + "mild heart failure" "level of glycylpeptide N-tetradecanoyltransferase 2 in blood serum" "Rajab interstitial lung disease with brain calcifications 1" - "mild heart failure" "cardia cancer" "event-related brain oscillation" "indolin-2-one measurement" @@ -19864,16 +19864,16 @@ "North Korea" "glycocholate" "fascioloidiasis" + "LS 180" "monosomy 13q34" "age-related macular degeneration" "lateral shoot meristem" - "LS 180" "intestinal endoderm" "Stargardt disease 4" "EGF-like repeat and discoidin I-like domain-containing protein 3" "genomic DNA" - "Rare genetic refraction anomaly" "tonsillar macrophage" + "Rare genetic refraction anomaly" "C57BL/10J"@en "pontocerebellar hypoplasia type 13" "eosinophil-derived neurotoxin measurement"@en @@ -19885,8 +19885,8 @@ "Channelopathy with epilepsy" "trimethylamine-N-oxide measurement"@en "sterol metabolism disorder" - "malignant central nervous system mesenchymal, non-meningothelial neoplasm" "Pelger-Huet anomaly" + "malignant central nervous system mesenchymal, non-meningothelial neoplasm" "Ullrich congenital muscular dystrophy" "level of low-density lipoprotein receptor-related protein 10 in blood serum" "level of eukaryotic translation initiation factor 5A-2 in blood serum" @@ -19927,10 +19927,10 @@ "obsolete_folinic acid-responsive seizures" "atypical teratoid rhabdoid tumor" "16a-hydroxy DHEA 3-sulfate measurement" - "McA-RH7777" "Convulsive status epilepticus" "angiokeratoma of scrotum" "GM17216" + "McA-RH7777" "Puccinia striiformis f. sp. tritici" "grade II glioma" "ILSXISS52/TejJ" @@ -19965,14 +19965,14 @@ "keratin-associated protein 2-4 measurement" "hereditary spastic paraplegia 45" "Aspergillus oryzae" - "obsolete_Leber plus disease" "obsolete_Alpha delta granule deficiency" "obsolete_cingulate cortex" + "obsolete_Leber plus disease" "Camptosynpolydactyly, complex" "cysteine-rich secretory protein LCCL domain-containing 2" "obsolete_Ehlers-Danlos syndrome due to tenascin-X deficiency" - "renal afferent arteriole" "CD4-negative, CD8-negative type I NK T cell secreting interleukin-4" + "renal afferent arteriole" "signal-regulatory protein beta-1" "alkaline ceramidase 3 deficiency" "level of SHC-transforming protein 4 in blood serum" @@ -20134,8 +20134,8 @@ "level of thyroid transcription factor 1-associated protein 26 in blood serum" "Decreased muscle mass" "neurointermediate lobe" - "IgG monogalactosylation measurement" "amelogenin, X isoform measurement" + "IgG monogalactosylation measurement" "4-hydroxyphenylacetate measurement" "linoleic acid measurement" "PPP2R1A-related intellectual disability" @@ -20154,8 +20154,8 @@ "familial bicuspid aortic valve" "obsolete_mucolipidosis type IV" "PK-59" - "cardiac ventricle" "agammaglobulinemia 7, autosomal recessive" + "cardiac ventricle" "Picea mariana" "level of ribonuclease-like protein 10 in blood serum" "obsolete_menopause" @@ -20235,8 +20235,8 @@ "GM14414" "obsolete_Acrokeratoelastoidosis of Costa" "24-dimethyl-5-vinylthiazole measurement" - "alpha-hydroxycaproate measurement" "Kaya-Barakat-Masson syndrome" + "alpha-hydroxycaproate measurement" "uridylate-specific endoribonuclease" "myosin regulatory light chain MRLC3" "cucurbitacin I 2-glucoside measurement" @@ -20276,11 +20276,11 @@ "Leuconostoc pseudomesenteroides" "sulfite oxidase deficiency due to molybdenum cofactor deficiency type A" "level of ephrin type-A receptor 4 in blood serum" - "level of neuropilin and tolloid-like protein 2 in blood serum" "colorectal leiomyoma" + "level of neuropilin and tolloid-like protein 2 in blood serum" "leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 measurement" - "adult oligodendroglioma" "deoxycytidine kinase" + "adult oligodendroglioma" "midline interhemispheric variant of holoprosencephaly" "level of sorting nexin-17 in blood serum" "response to anti-vascular endothelial growth factor drug" @@ -20301,9 +20301,9 @@ "receptacle" "parkinsonian-pyramidal syndrome" "Canavan disease" + "obsolete_14q11.2 microdeletion syndrome" "hyperinsulinemic hypoglycemia" "protein modification process" - "obsolete_14q11.2 microdeletion syndrome" "obsolete_fundus albipunctatus" "tumor susceptibility gene 101 protein" "Cayman type cerebellar ataxia" @@ -20382,12 +20382,12 @@ "level of D-dopachrome decarboxylase in blood serum" "49,XXXYY syndrome" "chronic interstitial cystitis" - "concentration of large HDL particles measurement" "Abnormal blood glucose concentration" "level of LIM domain kinase 1 in blood serum" "ONT GridION X5" - "forkhead box protein M1" + "concentration of large HDL particles measurement" "hyper-IgM syndrome" + "forkhead box protein M1" "Adenoid Cystic Breast Carcinoma" "SU.86.86" "autosomal recessive cutis laxa type 2" @@ -20435,8 +20435,8 @@ "2-hydroxystearate measurement" "obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature" "obsolete_diazoxide-resistant diffuse hyperinsulinism" - "obsolete_Atlas Quality Control type" "UPF0454 protein C12orf49 measurement" + "obsolete_Atlas Quality Control type" "white matter hyperintensity measurement" "X-linked spondyloepimetaphyseal dysplasia" "zinc finger protein 180 measurement" @@ -20520,8 +20520,8 @@ "Aplasia/Hypoplasia of the phalanges of the 4th toe" "Carassius auratus" "TMD8" - "synaptotagmin-12" "neuron migration" + "synaptotagmin-12" "level of retinol dehydrogenase 16 in blood serum" "obsolete_fatal infantile hypertonic myofibrillar myopathy" "galactose metabolic process" @@ -20582,8 +20582,8 @@ "Salmonella enterica subsp. enterica serovar Saintpaul" "level of ubiquitin-conjugating enzyme E2 W in blood serum" "obsolete_Distal myopathy with early respiratory muscle involvement" - "GM17757" "obsolete_Malpighian tubule primordium" + "GM17757" "obsolete_interleukin-12 subunit B measurement" "17alpha-hydroxypregnenolone 3-sulfate measurement" "CHO-K1" @@ -20609,8 +20609,8 @@ "blepharophimosis, ptosis, and epicanthus inversus syndrome" "obsolete vaginal enterocele" "hereditary papillary renal cell carcinoma" - "obsolete_partial deletion of the short arm of chromosome 10" "EEG with spike-wave complexes" + "obsolete_partial deletion of the short arm of chromosome 10" "X-18922 measurement" "obsolete_Hennekam syndrome" "keratinocyte differentiation-associated protein measurement" @@ -20658,8 +20658,8 @@ "isolated hyperchlorhidrosis" "obsolete_primary microcephaly-mild intellectual disability-young-onset diabetes syndrome" "oculopharyngeal muscular dystrophy" - "Torovirus infectious disease" "muscular dystrophy, adult-onset, with leukoencephalopathy" + "Torovirus infectious disease" "level of transferrin receptor protein 2 in blood serum" "obsolete_primary erythermalgia" "North Carolina macular dystrophy" @@ -20811,8 +20811,8 @@ "obsolete_immuno-osseous dysplasia" "inflammation" "peripheral hypothyroidism" - "vesiculobullous skin disease" "mucosa of large intestine" + "vesiculobullous skin disease" "49,XXXXY syndrome" "Neu-Laxova syndrome" "obsolete rare strabismus and restriction syndrome" @@ -20845,10 +20845,10 @@ "ChIP-seq" "origin recognition complex subunit 6" "poikiloderma with neutropenia" - "amyloid beta A4 precursor protein-binding family B member 2 measurement" "obsolete_cerebral hemisphere" - "beta-hydroxyisovalerate measurement" "IgG digalactosylation measurement" + "amyloid beta A4 precursor protein-binding family B member 2 measurement" + "beta-hydroxyisovalerate measurement" "arachidonic acid measurement" "Turner syndrome due to structural X chromosome anomalies" "familial acanthosis nigricans" @@ -20856,11 +20856,11 @@ "neonatal diabetes mellitus with congenital hypothyroidism" "phosphatidylcholine diacyl C36:4 measurement" "obsolete_branchiogenic deafness syndrome" + "obsolete_iniencephaly" "indol-3-ylacetyl-myo-inositol L-arabinoside measurement" "insulin-like growth factor-binding protein 5 measurement" "level of adenylyltransferase and sulfurtransferase MOCS3 in blood serum" "Roussy-Levy syndrome" - "obsolete_iniencephaly" "Globozoospermia" "familial clubfoot due to PITX1 point mutation" "obsolete_congenital absence of upper arm and forearm with hand present" @@ -20957,18 +20957,18 @@ "hexanoylglutamine measurement" "obsolete_Gitelman syndrome" "vitamin B12- and folate-independent constitutional megaloblastic anemia" + "obsolete_2q24 microdeletion syndrome" "leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 measurement" "prolyl hydroxylase EGLN3" "protein S100-A10" "brain oligodendroglioma" "HKB-11"@en "chronic hepatic porphyria" - "obsolete_2q24 microdeletion syndrome" + "3-hydroxyisobutyrate measurement" "jaw disease" "level of pre-mRNA-splicing regulator WTAP in blood serum" "level of sorting nexin-27 in blood serum" "spindle cell nevus" - "3-hydroxyisobutyrate measurement" "obsolete chemically-induced disorder" "complement C1r subcomponent-like protein measurement" "level of nucleotidyltransferase MB21D2 in blood serum" @@ -21013,8 +21013,8 @@ "primary Actinomycetales infectious disease" "Fish-eye disease" "hereditary sensory and autonomic neuropathy type 5" - "immunoglobulin superfamily containing leucine-rich repeat protein 2 measurement" "erythromelalgia" + "immunoglobulin superfamily containing leucine-rich repeat protein 2 measurement" "exocrine pancreas" "prohibitin-2" "autosomal dominant brachyolmia" @@ -21057,9 +21057,9 @@ "WM852 cell" "complex cortical dysplasia with other brain malformations 1" "R-spondin-4 measurement" - "MHH-ES-1" "peroneal artery" "papillary thymic adenocarcinoma" + "MHH-ES-1" "obsolete motor stereotypies" "obsolete_DK1-CDG" "blastula high" @@ -21067,8 +21067,8 @@ "V-set and immunoglobulin domain-containing protein 2" "bronchiolitis obliterans" "qualitative or quantitative defects of plectin" - "obsolete_sympathetic nervous system" "Acromesomelic dysplasia, Grebe type" + "obsolete_sympathetic nervous system" "CDGSH iron-sulfur domain-containing protein 2 measurement" "NSAID use measurement" "E3 ubiquitin-protein ligase Itchy" @@ -21178,8 +21178,8 @@ "glucagon-like peptide 1 receptor measurement" "tertiary syphilis" "46,XX gonadal dysgenesis" - "pharyngula prim-5" "neonatal systemic lupus erythematosus" + "pharyngula prim-5" "level of Phosphatidylcholine (O-16:0_20:4) in blood serum" "inflammatory bowel disease" "Poirier-Bienvenu neurodevelopmental syndrome" @@ -21302,10 +21302,10 @@ "hypertrichosis" "GLUT1 deficiency syndrome" "leukemia inhibitory factor receptor measurement" - "obsolete_familial avascular necrosis of femoral head" "pregnenolone sulfate measurement" "BP8" "essential hypertension" + "obsolete_familial avascular necrosis of femoral head" "Achondroplasia" "obsolete_2p21 microdeletion syndrome without cystinuria" "C-X-C motif chemokine 5 measurement" @@ -21336,12 +21336,12 @@ "killer cell immunoglobulin-like receptor 2DL2 measurement" "level of dystroglycan 1 in blood serum" "benign neoplasm of adrenal gland" - "leukemia, acute lymphoblastic, susceptibility to, 3" "Hereditary vascular retinopathy" + "leukemia, acute lymphoblastic, susceptibility to, 3" "GM15850" "high mobility group protein 20A" - "granular corneal dystrophy type II" "sodium chloride" + "granular corneal dystrophy type II" "level of BRCA1-associated ATM activator 1 in blood serum" "Stuttering" "level of E3 ubiquitin-protein ligase Itchy in blood serum" @@ -21387,9 +21387,9 @@ "far red light regimen" "RELT-like protein 2" "obsolete_synpolydactyly type 3" + "free cholesterol to total lipids in large LDL percentage " "circulating cell free DNA measurement" "hyperlipidemia due to hepatic triglyceride lipase deficiency" - "free cholesterol to total lipids in large LDL percentage " "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial" "phosphatidylcholine 36:2" "ubiquilin-2" @@ -21450,8 +21450,8 @@ "mild phenylketonuria" "endometrioid stromal and related neoplasms" "Osteoporosis - macrocephaly - blindness - joint hyperlaxity" - "1-stearoyl-2-arachidonoyl-GPC (18:0/20:4) measurement" "2-hydroxypalmitate measurement"@en + "1-stearoyl-2-arachidonoyl-GPC (18:0/20:4) measurement" "vitamin B12-responsive methylmalonic acidemia" "obsolete_juvenile neuronal ceroid lipofuscinosis" "trypsin-3 measurement" @@ -21479,8 +21479,8 @@ "atrial fibrillation, familial, 3" "obsolete_congenital fiber-type disproportion myopathy" "cytokine receptor-like factor 1" - "smooth muscle cancer" "Genetic vitreous-retinal disease" + "smooth muscle cancer" "hereditary methemoglobinemia" "Sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0) measurement" "hypermobility syndrome" @@ -21529,9 +21529,9 @@ "squamous carcinoma in situ" "autosomal recessive nemaline myopathy"@en "carbonyl reductase [NADPH] 3 measurement" + "endoplasmic reticulum lectin 1 measurement" "DL-P-hydroxyphenyllactic acid measurement" "SUDHL6" - "endoplasmic reticulum lectin 1 measurement" "short-rib thoracic dysplasia 7/20 with polydactyly, digenic" "obsolete_presumptive brain" "acyl-CoA dehydrogenase 9 deficiency" @@ -21556,19 +21556,19 @@ "Abnormal gastrointestinal tract morphology" "dappled diaphyseal dysplasia" "phosphatidylcholine diacyl C36:5 measurement" - "obsolete_Genetic optic atrophy" "istamycin C1 measurement" - "omega-6:omega-3 polyunsaturated fatty acid ratio"@en "gene methylation measurement" + "obsolete_Genetic optic atrophy" "inflammatory biomarker measurement" + "omega-6:omega-3 polyunsaturated fatty acid ratio"@en "1-stearyl-GPC (O-18:0) measurement" "antiviral agent" "balanced reciprocal translocation" "obsolete_strain factor" "level of protocadherin alpha-7 in blood serum" "Caplan's syndrome" - "type B pancreatic cell" "multiple epidermal growth factor-like domains protein 10 measurement" + "type B pancreatic cell" "Peripheral neuropathy" "lethal Kniest-like dysplasia" "level of flap endonuclease 1 in blood serum" @@ -21580,9 +21580,9 @@ "anti-Haemophilus influenzae type b polyribosylribitol phosphate IgG measurement" "material property" "establishment of localization" - "Gaucher disease type 3" "dynein light chain Tctex-type 3" "medial" + "Gaucher disease type 3" "synaptotagmin-2 measurement" "age of onset of migraine disorder" "GM17166" @@ -21614,12 +21614,12 @@ "obsolete_cortex of kidney" "immunodeficiency 31B" "Autosomal recessive infantile hypercalcemia" - "level of transcriptional adapter 1-like protein in blood serum" "GM14408" + "level of transcriptional adapter 1-like protein in blood serum" "obsolete_isolated encephalocele" "MARVEL domain-containing protein 2" - "Split hand-split foot malformation" "cytoplasmic vesicle membrane" + "Split hand-split foot malformation" "protein CIAO1" "obsolete multicellular organism aging" "MV4II" @@ -21773,8 +21773,8 @@ "adrenal suppression measurement" "Kaposi's sarcoma" "obsolete_rhizomelic chondrodysplasia punctata type 2" - "collagen alpha-1(I) chain" "obsolete_congenital short bowel syndrome" + "collagen alpha-1(I) chain" "D04 cell" "Enchytraeus albidus" "obsolete_seborrhea-like dermatitis with psoriasiform elements" @@ -21876,17 +21876,17 @@ "autosomal dominant spastic ataxia" "obsolete_achondrogenesis" "Microcornea - glaucoma - absent frontal sinuses" - "glucocorticoid modulatory element-binding protein 2 measurement" "multiple pterygium-malignant hyperthermia syndrome" "obsolete_embryonic outer optic lobe primordium" + "glucocorticoid modulatory element-binding protein 2 measurement" "Ly49D-positive natural killer cell, mouse" "Erwinia chrysanthemi" "cysteinylglycine measurement" "obsolete_FADD-related immunodeficiency" "obsolete_primary ciliary dyskinesia" "serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha measurement" - "obsolete_bronchopulmonary dysplasia" "segmentation stage" + "obsolete_bronchopulmonary dysplasia" "level of apolipoprotein A-I in blood serum" "nicotine dependence" "craniofaciofrontodigital syndrome" @@ -21920,8 +21920,8 @@ "fasting" "GM17155" "non-grapefruit juice consumption measurement" - "cholesterol in small VLDL measurement " "U-251 MG" + "cholesterol in small VLDL measurement " "response to BCG intravesical immunotherapy" "endomembrane system" "level of receptor expression-enhancing protein 2 in blood serum" @@ -21978,8 +21978,8 @@ "phloem" "adactyly of foot, unilateral" "level of transcription elongation factor A protein-like 4 in blood serum" - "mole per liter" "uridine diphosphate glucose pyrophosphatase NUDT14" + "mole per liter" "3-methoxycatechol sulfate (2) measurement" "monocyte chemotactic protein-2 measurement" "insomnia measurement" @@ -22024,9 +22024,9 @@ "childhood-onset nemaline myopathy" "acquired factor XIII deficiency" "Rare genetic disorder with obstructive azoospermia" - "melanocortin-2 receptor accessory protein measurement" "level of WW domain-binding protein 2 in blood serum" "RMUG-S" + "melanocortin-2 receptor accessory protein measurement" "RERF-LC-AI" "U-178MG" "obsolete_WAGR syndrome" @@ -22043,10 +22043,10 @@ "purine ribonucleoside monophosphate metabolic process" "secondary dysgenetic glaucoma" "Autosomal recessive spastic paraplegia type 23" + "Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature" "lumican measurement" "phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase pten measurement" "macrophage scavenger receptor types I and II measurement" - "Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature" "familial isolated arrhythmogenic right ventricular dysplasia" "HER2 negative breast carcinoma" "autosomal recessive limb-girdle muscular dystrophy type 2B" @@ -22077,10 +22077,10 @@ "neuronal acetylcholine receptor subunit alpha-5" "cutaneous adenocystic carcinoma" "level of FAS-associated factor 2 in blood serum" + "leg injury" "colorectal cancer, susceptibility to, 1" "embryonic proventriculus outer layer" "level of spindlin-3 in blood serum" - "leg injury" "opioid dependence" "obsolete autosomal recessive axonal hereditary motor and sensory neuropathy" "hyperpigmentation with or without hypopigmentation, familial progressive" @@ -22125,8 +22125,8 @@ "Familial renal amyloidosis due to Apolipoprotein AI variant" "Dickeya dadantii" "response to ketogenic diet" - "syndromic X-linked intellectual disability Najm type" "Diffuse Melanocytosis" + "syndromic X-linked intellectual disability Najm type" "kallikrein-6" "common variable immunodeficiency" "CD27-high, CD11b-low natural killer cell, mouse" @@ -22189,8 +22189,8 @@ "ulnar/fibula ray defect-brachydactyly syndrome" "level of deleted in malignant brain tumors 1 protein in blood serum" "organic heterocyclic compound" - "aortic malformation" "Absent pubic hair" + "aortic malformation" "autonomic neuropathy" "Gossypium arboreum" "blue rubber bleb nevus" @@ -22218,8 +22218,8 @@ "cold temperature regimen" "triazolam" "PEHO syndrome" - "interdigitating dendritic cell sarcoma" "abdominal adipose tissue measurement" + "interdigitating dendritic cell sarcoma" "Rep-Seq" "renal pelvis squamous cell carcinoma" "Fusarium sp." @@ -22304,11 +22304,11 @@ "obsolete_Hypohidrotic ectodermal dysplasia" "level of protein FEV in blood serum" "Autosomal dominant beta2-microglobulinic amyloidosis" - "obsolete_autosomal recessive distal myopathy" - "Poroma" "herpes simplex encephalitis, susceptibility to, 3" + "obsolete_autosomal recessive distal myopathy" "Anaplastic (Malignant) Meningioma" "polydactyly-syndactyly-triphalangism" + "Poroma" "lissencephaly with cerebellar hypoplasia type C" "anti-meningococcal C serum bactericidal antibody measurement" "1,9-dideoxyforskolin" @@ -22333,10 +22333,10 @@ "obsolete_fine-Lubinsky syndrome" "pain agnosia" "X-03088 measurement" - "NS-seq" "vegetative shoot apex" "interferon-inducible protein AIM2" "Duane-radial ray syndrome" + "NS-seq" "galanin-like peptide" "beta-1,4-galactosyltransferase 6" "nucleobindin-1" @@ -22345,8 +22345,8 @@ "B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" "alpha thalassemia spectrum" "extrahepatic bile duct mucoepidermoid carcinoma" - "lung disease" "Parvoviridae infectious disease, non-human animal" + "lung disease" "prostate-specific antigen" "level of Phosphatidylcholine (16:0_22:5) in blood serum" "ILSXISS60/TejJ" @@ -22356,12 +22356,12 @@ "obsolete_macrodactyly of fingers, unilateral" "EUFA121"@en "Pharyngeal Adenoid Cystic Carcinoma" - "level of NEDD4-like E3 ubiquitin-protein ligase WWP2 in blood serum" "prenylcysteine oxidase-like measurement" + "level of NEDD4-like E3 ubiquitin-protein ligase WWP2 in blood serum" "microangiopathy and leukoencephalopathy, pontine, autosomal dominant" "COP9 signalosome complex subunit 2 measurement" - "gestational diabetes" "X-14626 measurement" + "gestational diabetes" "tyrosine metabolic process" "pancreatic stellate cell" "17q21.31 microdeletion syndrome" @@ -22495,8 +22495,8 @@ "neurexin-3-beta measurement" "mammalian vulva" "Rare male infertility due to adrenal disorder of genetic origin" - "hypopigmentation of the skin" "isoursodeoxycholate sulfate (2) measurement" + "hypopigmentation of the skin" "CAL62" "transforming growth factor-alpha measurement" "apolipoprotein E measurement" @@ -22560,10 +22560,10 @@ "Rare disorder with hypogonadotropic hypogonadism" "Curly hair-acral keratoderma-caries syndrome" "zinc finger protein 329 measurement" - "group 2 innate lymphoid cell, mouse" "obsolete_hypopharynx anlage in statu nascendi" "Decreased circulating antibody level" "CS57544" + "group 2 innate lymphoid cell, mouse" "promotilin" "protein CEI measurement" "serpin A12 measurement" @@ -22594,8 +22594,8 @@ "Bm2' B cell" "SLAF-Seq" "CBY1-interacting BAR domain-containing protein 1" - "cholesterol in very large HDL measurement " "obsolete_response to statin" + "cholesterol in very large HDL measurement " "tyrosine-protein kinase transmembrane receptor ROR1 measurement" "autosomal recessive limb-girdle muscular dystrophy type 2F" "macrophage receptor MARCO" @@ -22629,8 +22629,8 @@ "autosomal dominant spastic paraplegia type 9" "ETS translocation variant 2" "Endosteal sclerosis - cerebellar hypoplasia" - "brucellosis" "idiopathic anaphylaxis" + "brucellosis" "LDL cholesterol" "obsolete_enteric nervous system" "ductus arteriosus" @@ -22770,9 +22770,9 @@ "hepatitis B virus infection" "future forebrain" "level of signal-regulatory protein gamma in blood serum" + "obsolete_N syndrome" "ciglitazone" "basophilic metamyelocyte" - "obsolete_N syndrome" "Autosomal recessive spastic paraplegia type 24" "1-palmitoyl-2-arachidonoyl-GPE (16:0/20:4) measurement" "high fat diet" @@ -22811,8 +22811,8 @@ "GM17284" "Thyroid Gland Hyalinizing Trabecular Tumor" "Digestive System Adenoma" - "level of non-POU domain-containing octamer-binding protein in blood serum" "cerebrospinal fluid otorrhea" + "level of non-POU domain-containing octamer-binding protein in blood serum" "arginine measurement"@en "GM12154" "morphine dependence" @@ -22837,8 +22837,8 @@ "IST1 homolog" "obsolete_ovarian follicle stage II" "obsolete syndromic retinitis pigmentosa" - "genomic data" "obsolete_hyperostosis cranialis interna" + "genomic data" "genetically isolated population"@en "level of tyrosine-protein phosphatase non-receptor type 9 in blood serum" "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" @@ -22951,13 +22951,13 @@ "obsolete_von Willebrand disease type 2A" "deep cervical thymus" "phosphatidylcholine diacyl C38:0 measurement" + "memory performance" "light" "Bartholin gland adenocarcinoma" "pulmonary artery choriocarcinoma" - "memory performance" + "Gr1-high myeloid suppressor cell" "triacylglycerol 48:1" "level of receptor of activated protein C kinase 1 in blood serum" - "Gr1-high myeloid suppressor cell" "level of homeobox protein TGIF2LY in blood serum" "MHC class II histocompatibility antigen beta chain DRB3" "obsolete_branchial muscle" @@ -23010,8 +23010,8 @@ "level of transcriptional adapter 3 in blood serum" "obsolete_Amelia" "lymphocyte antigen 6 complex locus protein G6d" - "Anaplastic Large Cell Lymphoma, ALK-Negative" "herpes simplex encephalitis, susceptibility to, 4" + "Anaplastic Large Cell Lymphoma, ALK-Negative" "response to methotrexate" "superficial mycosis" "childhood malignant kidney neoplasm" @@ -23053,8 +23053,8 @@ "childhood eosinophilic esophagitis" "X-14632 measurement" "Vgamma1.1-positive, Vdelta6.3-negative thymocyte" - "level of protein tyrosine phosphatase type IVA 2 in blood serum" "RNA-binding protein 3 measurement" + "level of protein tyrosine phosphatase type IVA 2 in blood serum" "obsolete_Coats disease" "granulocyte-macrophage colony-stimulating factor receptor subunit alpha measurement" "cellular localization" @@ -23180,9 +23180,9 @@ "obsolete_erythromelalgia" "TOV-21G cell" "piebald trait-neurologic defects syndrome" - "transforming growth factor-beta measurement" "obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability" "extrahepatic bile duct signet ring cell carcinoma" + "transforming growth factor-beta measurement" "CCFSTTG1" "obsolete_ethmoid cartilage" "alcoholic fatty liver disease" @@ -23233,8 +23233,8 @@ "N-acetylglucosamine measurement" "obsolete_familial hyperreninemic hypoaldosteronism type 2" "autoimmune disorder of musculoskeletal system" - "tyrosine-protein kinase YES measurement" "obsolete_partial trisomy/tetrasomy of chromosome 18" + "tyrosine-protein kinase YES measurement" "obsolete_progressive familial intrahepatic cholestasis type 3" "spinocerebellar ataxia type 25" "combined malonic and methylmalonic acidemia" @@ -23263,21 +23263,21 @@ "TUBO" "aldehyde dehydrogenase, mitochondrial" "Proptosis" + "Leydig cell hypoplasia due to LHB deficiency" "level of chloride intracellular channel protein 4 in blood serum" "obsolete syndrome with limb malformations as a major feature" "Elevated diastolic blood pressure" "obsolete_ventral nerve cord" - "Leydig cell hypoplasia due to LHB deficiency" "myxothiazol" "eukaryotic translation initiation factor 4E" "Bm3 B cell" "obsolete_response to glucocorticoid" "obsolete_thiopurine S-methyltransferase deficiency" - "Imperforate oropharynx - costo vetebral anomalies" "fluocinolone measurement" "familial benign flecked retina" "childhood testicular neoplasm" "bruxism" + "Imperforate oropharynx - costo vetebral anomalies" "GM12717" "thymic neuroendocrine carcinoma" "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome" @@ -23382,8 +23382,8 @@ "C57BL/6NTac"@en "obsolete_hereditary arterial and articular multiple calcification syndrome" "SCLC-21H" - "E3 ubiquitin-protein ligase RNF34" "phospholipids in HDL measurement " + "E3 ubiquitin-protein ligase RNF34" "TPC-1 " "level of RING finger protein 150 in blood serum" "obsolete_oligocone trichromacy" @@ -23403,8 +23403,8 @@ "level of MARVEL domain-containing protein 2 in blood serum" "collecting specimen from organ postmortem" "intraocular medulloepithelioma" - "Ocular albinism with congenital sensorineural deafness" "high mobility group protein HMGI-C" + "Ocular albinism with congenital sensorineural deafness" "trait in response to venlafaxine" "level of leucine-rich repeat-containing protein 75A in blood serum" "Thermotoga petrophila" @@ -23422,9 +23422,9 @@ "segmentation 5-9 somites" "odontotrichomelic syndrome" "Autosomal dominant deafness-onychodystrophy syndrome" + "obsolete_spinocerebellar ataxia type 30" "myristoyl-linoleoyl-glycerol (14:0/18:2) [1] measurement" "cocaine- and amphetamine-regulated transcript protein" - "obsolete_spinocerebellar ataxia type 30" "teasterone" "hyperprolinemia type 1" "epidemic pleurodynia" @@ -23444,10 +23444,10 @@ "level of TIP41-like protein in blood serum" "caspase recruitment domain-containing protein 19" "obsolete rare male infertility due to adrenal disorder of genetic origin" - "protein unc-93 homolog B1 measurement" - "sugar sweetened beverage consumption measurement" "low fat diet" "GM17157" + "protein unc-93 homolog B1 measurement" + "sugar sweetened beverage consumption measurement" "septin-6" "peritoneal benign neoplasm" "obsolete_Cataract-glaucoma" @@ -23531,15 +23531,15 @@ "obsolete_familial sick sinus syndrome" "obsolete_Trichophyton megninii" "Xeroderma pigmentosum complementation group F" - "staphylococcus seropositivity" - "alpha-crystallinopathy" - "pneumocystosis" "social domain measurement" + "pneumocystosis" "GPR143-related foveal hypoplasia" "epidermal nevus syndrome" "ezrin" "level of phytanoyl-CoA dioxygenase, peroxisomal in blood serum" "twisted gastrulation protein homolog 1" + "staphylococcus seropositivity" + "alpha-crystallinopathy" "SD" "hypertensive heart disease" "Callicebus cupreus" @@ -23551,8 +23551,8 @@ "cervicofacial actinomycosis" "level of divergent protein kinase domain 1C in blood serum" "mesenchymal cell" - "inherited glutathione metabolism disease" "response to osmotic stress" + "inherited glutathione metabolism disease" "Tremor" "hereditary sensory and autonomic neuropathy type 7" "spindle cell sarcoma" @@ -23603,8 +23603,8 @@ "serpinopathy" "Clostridium beijerinckii" "level of protein-glutamine gamma-glutamyltransferase K in blood serum" - "3-Indolepropionic acid to LysoPC 14:0 ratio" "idiopathic dilated cardiomyopathy" + "3-Indolepropionic acid to LysoPC 14:0 ratio" "intellectual disability, FRA12A type" "aconitic acid measurement" "Enteromyxum leei" @@ -23618,8 +23618,8 @@ "GM17235" "obsolete_pancreas primordium" "obsolete visceral malformation of the liver, biliary tract, pancreas or spleen" - "inflammatory diarrhea" "level of kelch-like protein 7 in blood serum" + "inflammatory diarrhea" "Otitis media" "aortic malignant tumor" "MOMO syndrome" @@ -23664,9 +23664,9 @@ "Angioleiomyoma" "Familial renal amyloidosis due to fibrinogen A alpha-chain variant" "obsolete_congenital achiasma" + "male genital tuberculosis" "level of collagen alpha-2(XI) chain in blood serum" "3-ketoacyl-CoA thiolase, peroxisomal" - "male genital tuberculosis" "bitter beverage consumption measurement" "obstructive hydrocephalus" "Birt-Hogg-Dube syndrome" @@ -23821,8 +23821,8 @@ "obsolete_Popov-Chang syndrome" "brain meninx" "maple syrup urine disease" - "mediastinal lymph node" "5-hydroxylysine" + "mediastinal lymph node" "congenital neutropenia-myelofibrosis-nephromegaly syndrome" "nail-patella syndrome" "phenylacetylcarnitine measurement" @@ -23907,9 +23907,9 @@ "rhabdomyosarcoma of the cervix uteri" "Histiocytic and Dendritic Cell Neoplasm" "KOPN-8 cell" + "alpha-linoleic acid measurement" "coiled-coil domain-containing protein 56" "hepatoerythropoietic porphyria" - "alpha-linoleic acid measurement" "pigmented paravenous retinochoroidal atrophy" "Conotruncal defect" "level of cold shock domain-containing protein E1 in blood serum" @@ -23969,15 +23969,15 @@ "protein Frey 1" "familial schizencephaly" "X-12718 measurement" - "sickle cell-beta-thalassemia disease syndrome" "Pseudomonas aeruginosa PA14 infection" + "sickle cell-beta-thalassemia disease syndrome" "adipose macrophage" "X-11795 measurement" "SAYSvFN domain-containing protein 1 measurement" - "Sensory ataxic neuropathy - dysarthria - ophthalmoparesis" "obsolete_autosomal recessive optic atrophy, OPA7 type" "atrial fibrillation, familial, 12" "midbrain tectum" + "Sensory ataxic neuropathy - dysarthria - ophthalmoparesis" "MOLP-8" "UKE1" "obsolete_body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency" @@ -23990,8 +23990,8 @@ "narcolepsy" "(R,R,R)-alpha-tocopherol" "disorder of development or morphogenesis, non-human animal" - "Female infertility due to fertilization defect" "varicocele" + "Female infertility due to fertilization defect" "Delphinapterus leucas" "Kandori fleck retina" "myocardial zonula adherens protein" @@ -24003,14 +24003,14 @@ "level of C1GALT1-specific chaperone 1 in blood serum" "obsolete_NARP syndrome" "T1 tumor stage" + "fructose-1,6-bisphosphatase 1" "transforming acidic coiled-coil-containing protein 3" "SLIT and NTRK-like protein 2" - "fructose-1,6-bisphosphatase 1" + "meningeal neoplasm" "draxin" "AG07307" "uterine ligament" "level of Sterol ester (27:1/20:2) in blood serum" - "meningeal neoplasm" "hypokalemic tubulopathy and deafness" "elementary body" "carboxypeptidase Z measurement" @@ -24028,10 +24028,10 @@ "obsolete rare hereditary disease with peripheral neuropathy" "Lauric acid measurement" "Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure" - "tripartite motif-containing protein 3" "anal gland neoplasm" - "acetyl-coenzyme A thioesterase" + "tripartite motif-containing protein 3" "primary qualitative or quantitative defects of alpha-dystroglycan" + "acetyl-coenzyme A thioesterase" "Anemonia viridis" "choroidal sclerosis" "centriolar satellite-associated tubulin polyglutamylase complex regulator 1" @@ -24062,8 +24062,8 @@ "interleukin-1 receptor accessory protein" "gastrointestinal anthrax" "interleukin-16 measurement" - "level of mRNA-capping enzyme in blood serum" "lung parenchyma" + "level of mRNA-capping enzyme in blood serum" "obsolete_diazoxide-resistant focal hyperinsulinism" "level of forkhead box protein P1 in blood serum" "nucleoplasmin-2" @@ -24072,15 +24072,15 @@ "Lambert-Eaton myasthenic syndrome"@en "eicosapentaenoic acid measurement" "phospholipids in LDL measurement " - "X-23637 measurement" "hexanoylcarnitine measurement" "atypical femoral fracture" "diterpene" "level of 11,12-dihydroxyicosa-5,8,14-trienoic acid in blood plasma" "neurofibromatosis type 1" "sclerosing cholangitis" - "PEAT" "GM12869" + "X-23637 measurement" + "PEAT" "UV excision repair protein RAD23 homolog A" "musculo-skeletal system cell" "temperature" @@ -24101,8 +24101,8 @@ "tenosynovial giant cell tumor, diffuse type" "segmentation 10-13 somites" "level of protein unc-119 homolog B in blood serum" - "protein phosphatase 1 regulatory subunit 3G" "scutianine F measurement" + "protein phosphatase 1 regulatory subunit 3G" "Rhodococcus jostii RHA1" "amitrole" "level of membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 in blood serum" @@ -24114,10 +24114,10 @@ "X-11452 measurement" "obsolete_infantile-onset autosomal recessive nonprogressive cerebellar ataxia" "gamma-crystallin C" - "alpha-2,8-sialyltransferase 8F measurement" - "X-04499--3,4-dihydroxybutyrate-to-C-glycosyltryptophan ratio" "level of adenylate kinase 4, mitochondrial in blood serum" "mucosal type mast cell" + "alpha-2,8-sialyltransferase 8F measurement" + "X-04499--3,4-dihydroxybutyrate-to-C-glycosyltryptophan ratio" "hemangiopericytoma, malignant" "obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature" "dysplastic nevus" @@ -24156,13 +24156,13 @@ "obsolete_malposition of external canthus" "switch-associated protein 70" "juxtacortical osteosarcoma" - "stress-related disorder" "Rhodococcus aetherivorans" + "stress-related disorder" "2b-RAD" "mammary-digital-nail syndrome" + "visceral muscle primordium" "obsolete_mitochondrial myopathy with reversible cytochrome C oxidase deficiency" "BMI-adjusted neck circumference" - "visceral muscle primordium" "glycerol-3-phosphate measurement"@en "blood aluminium measurement" "Progressive supranuclear palsy - parkinsonism" @@ -24289,9 +24289,9 @@ "Autosomal recessive spastic paraplegia type 26" "Ara-C-sensitive parental cell line" "protein-tyrosine kinase 2-beta measurement" - "Lung Sarcomatoid Carcinoma" "DNA-directed RNA polymerases I, II, and III subunit RPABC2" "Loss of ambulation" + "Lung Sarcomatoid Carcinoma" "level of guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 in blood serum" "MHC-II-negative classical monocyte" "level of protein-glutamine gamma-glutamyltransferase 2 in blood serum" @@ -24333,13 +24333,13 @@ "silk gland" "cholesteryl icosapentaenoate" "level of myosin regulatory light chain 12B in blood serum" - "Aegilops tauschii" "vigilin" + "Aegilops tauschii" "lacrimal gland cancer" "1-stearoyl-2-docosahexaenoyl-GPC (18:0/22:6) measurement" "obsolete_intercalary limb defects" - "obsolete_cranial vasculature" "TUBB2A-related tubulinopathy" + "obsolete_cranial vasculature" "hereditary macular dystrophy" "NKG2D ligand 4 measurement" "stricture or kinking of ureter" @@ -24375,9 +24375,9 @@ "cell population proliferation" "minute" "Genetic obesity" - "presynaptic congenital myasthenic syndrome" "COV644" "Lactic acidosis" + "presynaptic congenital myasthenic syndrome" "SD minus nitrogen" "testis sarcoma" "streptococcus seropositivity" @@ -24525,10 +24525,10 @@ "umbilical artery" "Combined hyperlipidemia" "obsolete_Prata-Liberal-Goncalves syndrome" - "obsolete_carnitine palmitoyl transferase II deficiency, severe infantile form" - "Bloom syndrome" "neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities" + "Bloom syndrome" "tetratricopeptide repeat protein 33" + "obsolete_carnitine palmitoyl transferase II deficiency, severe infantile form" "rap guanine nucleotide exchange factor 5 measurement" "obsolete_mitochondrial DNA deletion syndrome with progressive myopathy" "Delayed gross motor development" @@ -24590,19 +24590,19 @@ "protein S100-A16" "non-melanoma skin carcinoma" "Primary dystonia, DYT6 type" - "obsolete_distal trisomy 13q" "Cabbage leaf curl virus" + "obsolete_distal trisomy 13q" "cerebrofacial arteriovenous metameric syndrome" "pleural effusion" "AT3ABR cell" "level of selenoprotein W in blood serum" "P5CS deficiency" - "obsolete_Marshall syndrome" "obsolete_neck" "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" - "A/J" + "obsolete_Marshall syndrome" "Saccharomyces pastorianus Weihenstephan 34/70" "Atelis syndrome 2" + "A/J" "thrombocytopenia-absent radius syndrome" "leiomyosarcoma of the cervix uteri" "heneicosapentaenoate (21:5n3) measurement" @@ -24750,9 +24750,9 @@ "2102Ep" "derived mass unit" "Ichthyosis-short stature-brachydactyly-microspherophakia syndrome" + "host cell part" "MUM-2B cell" "amyloid deposition measurement" - "host cell part" "minimal pigment oculocutaneous albinism type 1" "Robin sequence-oligodactyly syndrome" "N231" @@ -24769,8 +24769,8 @@ "interferon-induced protein with tetratricopeptide repeats 2 measurement" "Max-like protein X" "Trypanosoma cruzi seropositivity" - "level of phosphoinositide-3-kinase-interacting protein 1 in blood serum" "obsolete_tangential nucleus" + "level of phosphoinositide-3-kinase-interacting protein 1 in blood serum" "aromatase excess syndrome" "steroid receptor RNA activator 1" "platelet-activating factor acetylhydrolase measurement" @@ -24782,8 +24782,8 @@ "trochanter bone mineral density"@en "obsolete_renal dysplasia" "obsolete_lumbosacral spina bifida cystica" - "phospholipids in medium HDL measurement " "Camptodactyly - taurinuria" + "phospholipids in medium HDL measurement " "level of 12-hydroxy-5,8,10,14-eicosatetraenoic acid in blood plasma" "Salivary Gland Adenosquamous Carcinoma" "CD4-positive T-lymphocyte count" @@ -24815,8 +24815,8 @@ "N-acetylthreonine measurement" "level of protein unc-13 homolog A in blood serum" "hereditary hemochromatosis" - "sodium nitroprusside dihydrate measurement" "spermatogenesis-associated protein 31D4 (human)" + "sodium nitroprusside dihydrate measurement" "F4/80-negative adipose macrophage" "Rare genetic neurological disorder" "X-11799 measurement" @@ -24836,8 +24836,8 @@ "2,3,7,8-tetrachlorodibenzodioxine" "C-glycosyltryptophan-to-succinylcarnitine ratio" "arthrogryposis-renal dysfunction-cholestasis syndrome" - "obsolete_keratoconjunctivitis sicca" "level of clathrin interactor 1 in blood serum" + "obsolete_keratoconjunctivitis sicca" "carotid body" "obsolete_somatic nervous system" "Disorder of cobalamin metabolism and transport" @@ -24879,11 +24879,11 @@ "autoimmune thrombocytopenia" "Vitis sp. cv. 'Norton'" "Non-progressive cerebellar ataxia with intellectual disability" - "obsolete response to paclitaxel" "obsolete_myostatin-related muscle hypertrophy" + "obsolete response to paclitaxel" "Pleural Epithelioid Mesothelioma" - "cyclic nucleotide-gated olfactory channel" "2P-Seq" + "cyclic nucleotide-gated olfactory channel" "level of epidermal growth factor receptor in blood serum" "hypertrophic cardiomyopathy 7" "Norman-Roberts syndrome" @@ -25047,8 +25047,8 @@ "inosine-5'-monophosphate dehydrogenase 1 measurement" "pineal body neoplasm" "hyperuricemia" - "X-13215 measurement" "diabetes mellitus, transient neonatal, 3" + "X-13215 measurement" "bony labyrinth" "level of myosin regulatory light chain 11 in blood serum" "obsolete_brachydactyly of toes, bilateral" @@ -25111,9 +25111,9 @@ "epidermolysis bullosa simplex due to plakophilin deficiency" "Schizoaffective disorder-bipolar type" "docosapentaenoic acid" - "triacylglycerol 56:6 measurement"@en "ubiquitin carboxyl-terminal hydrolase 11" "eye lymphoma" + "triacylglycerol 56:6 measurement"@en "level of Phosphatidylinositol (16:0_18:1) in blood serum" "guanine nucleotide-binding protein G(i) subunit alpha-3" "obsolete_2q31.1 microdeletion syndrome" @@ -25123,8 +25123,8 @@ "level of beta-1,4-galactosyltransferase 7 in blood serum" "Rare genetic movement disorder" "lower limb deficiency-hypospadias syndrome" - "ataxin-3" "apolipoprotein E (isoform E4) measurement" + "ataxin-3" "Maternal teratogenic exposure" "acquired schizencephaly" "Fuji cells" @@ -25134,11 +25134,11 @@ "phosphatidylcholine diacyl C38:4 measurement" "Dworschak-Punetha neurodevelopmental syndrome" "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase measurement" - "obsolete_ichthyosis hystrix of Curth-Macklin" "2-hydroxyglutarate(2-)" "triacylglycerol 50:3" - "negative domain measurement" + "obsolete_ichthyosis hystrix of Curth-Macklin" "Nasonia vitripennis" + "negative domain measurement" "T-cell surface glycoprotein CD1a" "mitochondrial DNA depletion syndrome, myopathic form" "obsolete_cleithrum" @@ -25149,18 +25149,18 @@ "immature ovarian teratoma" "Aspirin-induced asthma" "acrocephalopolysyndactyly" - "BHP5-16" "Glycochenodeoxycholic acid measurement" + "BHP5-16" "benign colon neoplasm" "pneumonic plague" - "level of kallikrein-15 in blood serum" "lumbar disc degeneration" + "level of kallikrein-15 in blood serum" "Intellectual disability-developmental delay-contractures syndrome" "isobutyryl-CoA dehydrogenase, mitochondrial" "otic placode" "familial mesial temporal lobe epilepsy with febrile seizures" - "level of chromodomain Y-like protein 2 in blood serum" "tumor necrosis factor receptor superfamily member 1A measurement" + "level of chromodomain Y-like protein 2 in blood serum" "duplication of the pituitary gland" "response to tafenoquine"@en "hyperphenylalaninemia due to DNAJC12 deficiency" @@ -25175,8 +25175,8 @@ "Abnormal muscle physiology" "microcephaly-glomerulonephritis-marfanoid habitus syndrome" "cerebral atherosclerosis" - "Isonicotinamide measurement" "anonychia with flexural pigmentation" + "Isonicotinamide measurement" "4-hydroxyphenylacetylglutamine measurement" "apoptotic protease-activating factor 1" "hemorrhagic cystitis" @@ -25272,8 +25272,8 @@ "Bronchiolitis" "Non-accomodative esotropia" "DNA synthesis inhibitor" - "amyloid beta A4 precursor protein-binding family B member 3 measurement" "quinolinic acid measurement"@en + "amyloid beta A4 precursor protein-binding family B member 3 measurement" "Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells" "Trichoderma atroviride" "renal pelvis neoplasm" @@ -25295,10 +25295,10 @@ "spondyloepimetaphyseal dysplasia-hypotrichosis syndrome" "cell" "Subcutaneous hemorrhage" - "obsolete_Marshall-Smith syndrome" "CHO-IR" "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" "squamous cell carcinoma of liver and intrahepatic biliary tract" + "obsolete_Marshall-Smith syndrome" "hidradenitis suppurativa" "B6.Cg-Tg(SOD1-G93A)1Gur/J" "congenital thrombotic thrombocytopenic purpura" @@ -25307,10 +25307,10 @@ "cAMP-dependent protein kinase type I-alpha regulatory subunit" "Chiari malformation" "desmin measurement" - "obsolete_6p22 microdeletion syndrome" "level of retinoic acid receptor RXR-alpha in blood serum" - "purine nucleobase metabolic process" + "obsolete_6p22 microdeletion syndrome" "obsolete_distal trisomy 7p" + "purine nucleobase metabolic process" "Iranian"@en "Pfeiffer syndrome type 2" "level of platelet-activating factor acetylhydrolase IB subunit alpha1 in blood serum" @@ -25322,9 +25322,9 @@ "obsolete_atrial septal defect, ostium secundum type" "Cucurbita maxima" "formylglycine-generating enzyme" - "obsolete_mosaic trisomy 20" "level of alpha-N-acetylglucosaminidase in blood serum" "sign or symptom concerning food and fluid intake" + "obsolete_mosaic trisomy 20" "spontaneous mutation" "calcium uptake protein 2, mitochondrial" "Ritscher-Schinzel syndrome 1" @@ -25332,9 +25332,9 @@ "G antigen 2D" "level of transmembrane protein 132A in blood serum" "right ventricular systolic volume measurement"@en - "educational attainment"@en "Ler-1" "cholestasis, progressive familial intrahepatic, 7, with or without hearing loss" + "educational attainment"@en "X-12731 measurement" "E3 ubiquitin-protein ligase SIAH1" "CD320 molecule" @@ -25343,8 +25343,8 @@ "GLP-1-stimulated insulin response" "level of leucine-rich repeat and transmembrane domain-containing protein 2 in blood serum" "sulfhydryl oxidase 1 measurement" - "tumor necrosis factor ligand superfamily member 9 measurement" "secretagogin measurement" + "tumor necrosis factor ligand superfamily member 9 measurement" "damage intensity" "obsolete_Han Chinese" "non-syndromic brachydactyly of fingers" @@ -25454,8 +25454,8 @@ "C9orf72 mutation status" "temperature-sensitive oculocutaneous albinism type 1" "pigmented purpuric eruption" - "level of Toll/interleukin-1 receptor domain-containing adapter protein in blood serum" "amyloid plaque accumulation rate" + "level of Toll/interleukin-1 receptor domain-containing adapter protein in blood serum" "motor nerve neuritis" "DroNc-seq" "quinidine" @@ -25546,13 +25546,13 @@ "protein-glutamine gamma-glutamyltransferase activity" "integumentary system cancer" "gastroesophageal reflux disease" + "Hirschsprung disease - ganglioneuroblastoma" "choroideremia-deafness-obesity syndrome" "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5" "placebo" - "Hirschsprung disease - ganglioneuroblastoma" + "sessile serrated polyp" "blood cobalt measurement" "Decreased circulating aldosterone level" - "sessile serrated polyp" "inherited renal tubular disease" "level of disks large homolog 4 in blood serum" "hereditary folate malabsorption" @@ -25588,9 +25588,9 @@ "LN-428" "obsolete_brachydactyly" "ulcerative proctosigmoiditis" + "angiomyoma" "pseudouridylate synthase TRUB1" "autosomal dominant limb-girdle muscular dystrophy type 1G" - "angiomyoma" "sortilin measurement" "acute maxillary sinusitis" "CINCA syndrome" @@ -25723,9 +25723,9 @@ "46,XY sex reversal 3" "Charcot-Marie-Tooth disease axonal type 2Q" "Cronobacter muytjensii" - "intellectual disability, X-linked, syndromic 33" "hydrochlorothiazide" "Retinal atrophy" + "intellectual disability, X-linked, syndromic 33" "ubiquitin carboxyl-terminal hydrolase 10" "group 2 innate lymphoid cell" "Psychotic episodes" @@ -25770,24 +25770,24 @@ "ubiquitin-conjugating enzyme E2 D1" "S2R+" "peroxisomal disease" + "X-12329 measurement" "arsenic trichloride" "lung germ cell tumor" "obsolete cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" "neonatal severe primary hyperparathyroidism" - "X-12329 measurement" "neuronopathy, distal hereditary motor, autosomal recessive 8" "cone-rod dystrophy" "Aplasia/Hypoplasia of the thumb" "centrin-2 measurement" + "myoclonic epilepsy" "non polyA RNA" "level of heat shock protein beta-6 in blood serum" - "myoclonic epilepsy" - "cystic renal cell carcinoma" "coralliform cataract" + "cystic renal cell carcinoma" "carbonic anhydrase 2" + "peritonitis" "islet cell adenomatosis" "rhabdomyosarcoma with mixed embryonal and alveolar features" - "peritonitis" "syntaxin-17" "putative protein N-methyltransferase FAM86B1" "level of coiled-coil domain-containing protein 149 in blood serum" @@ -25807,22 +25807,22 @@ "noise-induced hearing loss" "cortisol secretion" "behavioral response to water deprivation" - "level of ectonucleotide pyrophosphatase/phosphodiesterase family member 5 in blood serum" "insect embryonic optic lobe primordium" + "level of ectonucleotide pyrophosphatase/phosphodiesterase family member 5 in blood serum" "GM17170" "leiomyoma cutis" "chronic intestinal vascular insufficiency" "U11/U12 small nuclear ribonucleoprotein 25 kDa protein" "level of Phosphatidylinositol (16:0_18:2) in blood serum" "Neurologic Waardenburg-Shah syndrome" + "obsolete_Wagner disease" "anterior uvea" "lethal hemolytic anemia-genital anomalies syndrome" - "obsolete_Wagner disease" "gamma-Glu-Glu" "obsolete_isolated thyrotropin-releasing hormone deficiency" "vulva cancer" - "triacylglycerol 46:2" "Autosomal ichthyosis syndrome with prominent hair abnormalities" + "triacylglycerol 46:2" "sulfotransferase 1A3" "obsolete genetic cardiac rhythm disease" "X-linked intellectual disability, Wilson type" @@ -25890,9 +25890,9 @@ "Broad foot" "obsolete_X-linked recessive ocular albinism" "carbuncle" + "obsolete_Simpson-Golabi-Behmel syndrome" "level of MARCKS-related protein in blood serum" "nephrolithiasis/osteoporosis, hypophosphatemic" - "obsolete_Simpson-Golabi-Behmel syndrome" "peroxisome biogenesis disorder 3A (Zellweger)" "infant botulism" "DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion" @@ -26079,8 +26079,8 @@ "GM1 gangliosidosis type 2" "trichilemmal cyst" "fundus albipunctatus" - "transcriptional repressor CTCF" "level of sulfotransferase 1B1 in blood serum" + "transcriptional repressor CTCF" "Charcot-Marie-Tooth disease type 4C" "RL" "mitogen-activated protein kinase kinase kinase 11" @@ -26092,9 +26092,9 @@ "level of complement C1q-like protein 3 in blood serum" "N-(2-furoyl)glycine measurement" "MCF-7/MN1"@en + "complement C2 measurement" "obsolete_porphyria" "dietary potassium intake measurement" - "complement C2 measurement" "Postaxial foot polydactyly" "suppressor macrophage" "density gradient centrifugation" @@ -26230,12 +26230,12 @@ "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome" "Cryptorchidism - arachnodactyly - intellectual disability" "plant callus" - "dihydropyrimidinase-related protein 5 measurement" "diabetic encephalopathy" - "LysoPC 16:0 measurement" + "dihydropyrimidinase-related protein 5 measurement" "level of SH3 domain-binding glutamic acid-rich-like protein 2 in blood serum" "autosomal recessive dyskeratosis congenita 4" "sensory perception of sound" + "LysoPC 16:0 measurement" "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly" "Nthy-ori 3-1" "Missing ribs" @@ -26259,8 +26259,8 @@ "spastic paraplegia-facial-cutaneous lesions syndrome" "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6" "disintegrin and metalloproteinase domain-containing protein 11 measurement" - "galactosylceramide sulfotransferase" "obsolete_Mowat-Wilson syndrome" + "galactosylceramide sulfotransferase" "lactase/phlorizin hydrolase" "level of disks large-associated protein 4 in blood serum" "photoallergic dermatitis" @@ -26375,8 +26375,8 @@ "Familial gastric cancer" "external yolk syncytial layer" "exostoses, multiple, type 2" - "hereditary thyroid gland medullary carcinoma" "goblet cell" + "hereditary thyroid gland medullary carcinoma" "isoleucine" "obsolete_Parkinson's disease" "beta-defensin 108B measurement" @@ -26405,8 +26405,8 @@ "benign connective and soft tissue neoplasm" "eye color" "level of transmembrane emp24 domain-containing protein 9 in blood serum" - "blood copper measurement" "simian immunodeficiency virus infection" + "blood copper measurement" "Brainstem dysplasia" "Lymphangiosarcoma" "obsolete_Charcot-Marie-Tooth disease" @@ -26432,8 +26432,8 @@ "level of ubiquitin-conjugating enzyme E2 D3 in blood serum" "C-type natriuretic peptide" "microspherophakia-metaphyseal dysplasia syndrome" - "nuclear nucleic acid-binding protein C1D measurement" "Dementia" + "nuclear nucleic acid-binding protein C1D measurement" "steroid biosynthetic process" "congenital limb malformation" "methionine catabolic process" @@ -26460,8 +26460,8 @@ "platelet-type bleeding disorder 10" "AB SOLiD 5500xl" "cystatin-8" - "isovalerylcarnitine (C5) measurement" "peptidyl-prolyl cis-trans isomerase-like 3" + "isovalerylcarnitine (C5) measurement" "level of pituitary adenylate cyclase-activating polypeptide type I receptor in blood serum" "level of UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit in blood serum" "Neisseria lactamica" @@ -26506,9 +26506,9 @@ "Brachypodium distachyon" "CS57842" "intellectual disability, short stature, facial anomalies, and joint dislocations" + "Short stature - wormian bones - dextrocardia" "anti-neutrophil antibody associated vasculitis" "acute proliferative glomerulonephritis" - "Short stature - wormian bones - dextrocardia" "central nervous system lipoma" "X-23636 measurement" "aseptic loosening" @@ -26591,8 +26591,8 @@ "Mayer-Rokitansky-Küster-Hauser syndrome type 2" "normal mucosa of esophagus-specific gene 1 protein measurement" "Penaeus monodon" - "obsolete_Goldenhar syndrome" "anserine measurement" + "obsolete_Goldenhar syndrome" "insulin-sensitizing drug" "Xp22.13p22.2 duplication syndrome" "southeast Asian ovalocytosis" @@ -26663,8 +26663,8 @@ "CD14-low, CD16-positive monocyte" "very-long-chain fatty acyl-CoA dehydrogenase activity" "obsolete_glycogen storage disease due to aldolase A deficiency" - "chromosome 12p deletion" "15-methylpalmitate isobar with 2-methylpalmitate measurement" + "chromosome 12p deletion" "uveal melanoma disease severity"@en "Nephropathy-deafness-hyperparathyroidism syndrome" "Autosomal dominant focal dystonia, DYT25" @@ -26697,9 +26697,9 @@ "4-hydroxycoumarin" "diamine acetyltransferase 2 measurement" "2,3-dihydroxy-3-methylbutanoate" + "obsolete_pili torti" "level of putative chondrosarcoma-associated gene 1 protein in blood serum" "X-11859 measurement" - "obsolete_pili torti" "epithelium of small intestine" "catenin beta-1" "neonatal/infantile epilepsy syndrome" @@ -26761,13 +26761,13 @@ "GM17844" "obsolete_isolated focal cortical dysplasia type Ib" "1,3-dimethylurate measurement" + "p phenotype"@en "Staphylococcus aureus subsp. aureus USA300" "distal hereditary motor neuropathy" "high-grade astrocytoma with piloid features" "cataract - microcornea syndrome" "presumptive rhombomere 3" "inflammatory macrophage" - "p phenotype"@en "level of interferon regulatory factor 8 in blood serum" "microfibrillar-associated protein 5" "congenital absence of both lower leg and foot, unilateral" @@ -26775,8 +26775,8 @@ "IMS-MDA" "serine/threonine-protein kinase PAK 7 measurement" "YTH domain-containing protein 1 measurement" - "obsolete_primary non-essential cutis verticis gyrata" "acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase" + "obsolete_primary non-essential cutis verticis gyrata" "inducible T-cell costimulator measurement" "obsolete disease with focal palmoplantar keratoderma as a major feature" "anorexia nervosa" @@ -26800,11 +26800,11 @@ "HUES49" "Generalized-onset seizure" "MRC-5V1"@en - "alcohol exposure measurement" "portal hypertension" "cardiac stress biomarker measurement" - "granular eminence" + "alcohol exposure measurement" "Short toe" + "granular eminence" "microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome" "detergent" "level of glutathione-specific gamma-glutamylcyclotransferase 1 in blood serum" @@ -26838,9 +26838,9 @@ "obsolete_transient neonatal diabetes mellitus" "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency" "diabetes mellitus, permanent neonatal 2" + "obsolete_Netherton syndrome" "obsolete_congenital vascular bone syndrome" "legionellosis" - "obsolete_Netherton syndrome" "dysplastic cortical hyperostosis" "Xanthomonas oryzae pv. oryzae PXO99A" "obsolete_adult polyglucosan body disease" @@ -26849,8 +26849,8 @@ "spastic ataxia-corneal dystrophy syndrome" "acquired thrombocytopenia" "level of growth arrest-specific protein 2 in blood serum" - "Radius absent - anogenital anomalies" "developmental and epileptic encephalopathy 99" + "Radius absent - anogenital anomalies" "obsolete_head capsule" "Endometrial Clear Cell Adenocarcinoma" "AFib amyloidosis" @@ -26874,8 +26874,8 @@ "Wyeomyia smithii" "level of N-acetylglutamate synthase, mitochondrial in blood serum" "eye measurement" - "level of double-stranded RNA-binding protein Staufen homolog 2 in blood serum" "obsolete_zygodactyly type 3" + "level of double-stranded RNA-binding protein Staufen homolog 2 in blood serum" "Dandy-Walker malformation-postaxial polydactyly syndrome" "level of trimeric intracellular cation channel type B in blood serum" "right ventricular stroke volume measurement"@en @@ -26919,11 +26919,11 @@ "X-linked intellectual disability-cerebellar hypoplasia syndrome" "electric current unit" "interleukin-17C measurement" - "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" "apocrine adenocarcinoma" "GM17111" "endoplasmic reticulum membrane sensor NFE2L1" "obsolete_root hair" + "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" "membrane protein FAM174A" "embryonic day 18.5" "juvenile vascular leaf" @@ -26960,8 +26960,8 @@ "level of phosphatidate phosphatase LPIN1 in blood serum" "level of eukaryotic translation initiation factor 4E in blood serum" "orofacial cleft 1" - "malonyl-CoA decarboxylase, mitochondrial measurement" "dihomo-gamma-linoleic acid measurement" + "malonyl-CoA decarboxylase, mitochondrial measurement" "hypolipoproteinemia" "Aggregatibacter actinomycetemcomitans" "sulfite oxidase activity" @@ -26976,10 +26976,10 @@ "obsolete_acetazolamide-responsive myotonia" "Deinococcus radiodurans" "reticular dysgenesis" - "level of serine/threonine-protein kinase Pim-2 in blood serum" "CACNA1F-related retinopathy" "level of fragile X messenger ribonucleoprotein 1 in blood serum" "spinal cord lipoma" + "level of serine/threonine-protein kinase Pim-2 in blood serum" "hypertrichosis cubiti-short stature syndrome" "G120" "interleukin-1 receptor-like 2" @@ -27117,13 +27117,13 @@ "Femoral bowing" "obsolete_pretibial dystrophic epidermolysis bullosa" "level of Phosphatidylcholine (16:0_18:1) in blood serum" - "obsolete_partial deletion of the long arm of chromosome 15" "rheumatic disease of mitral valve" + "obsolete_partial deletion of the long arm of chromosome 15" "level of beta-adducin in blood serum" "obsolete_familial primary localized cutaneous amyloidosis" "interleukin-20 receptor subunit beta" - "Binder syndrome" "level of 5-hydroperoxy-7-[3,5-epidioxy-2-(2-octenyl)-cyclopentyl]-6-heptenoic acid in blood serum" + "Binder syndrome" "Tomo-Seq" "obsolete_Pima Indian" "cardiac sarcoidosis" @@ -27237,9 +27237,9 @@ "level of phospholipase B-like 1 in blood serum" "Limb hypertonia" "pineal region germinoma" + "obsolete_larynx atresia" "brachyolmia" "level of phosphomannomutase 2 in blood serum" - "obsolete_larynx atresia" "serum VEGFR2 concentration measurement" "L-Proline to 3-Indolepropionic acid ratio" "congenital pseudoarthrosis of the tibia" @@ -27264,13 +27264,13 @@ "obsolete gonosome number anomaly" "level of RING1 and YY1-binding protein in blood serum" "appendix lymphoma" - "cGMP-dependent protein kinase 1, beta isozyme measurement" "NCI-H1618" - "TGW cell" + "cGMP-dependent protein kinase 1, beta isozyme measurement" "external ear neoplasm" "Upper limb hypertonia" "qualitative or quantitative defects of titin" "mature Vgamma2-positive fetal thymocyte" + "TGW cell" "Taurocholic acid sodium salt hydrate measurement" "nucleic acid amplification" "ribose-5-phosphate isomerase measurement" @@ -27342,8 +27342,8 @@ "azelaate(2-)" "obsolete_recessive mitochondrial ataxia syndrome" "ring dermoid of cornea" - "ACTH Syndrome, Ectopic" "level of YjeF N-terminal domain-containing protein 3 in blood serum" + "ACTH Syndrome, Ectopic" "SF-9" "hereditary spastic paraplegia 49" "obsolete deficiency of the interleukin-36 receptor antagonist" @@ -27489,8 +27489,8 @@ "punctate palmoplantar keratoderma" "Placental Choriocarcinoma" "thymol sulfate measurement" - "Serratia Infections" "Hepatitis C virus" + "Serratia Infections" "Charcot-Marie-Tooth disease axonal type 2V" "epoxide hydrolase 2" "obsolete_reticular dystrophy of the retinal pigment epithelium" @@ -27548,8 +27548,8 @@ "level of sprouty-related, EVH1 domain-containing protein 1 in blood serum" "female genital tract fistula" "developmental and epileptic encephalopathy 103" - "obsolete_Meckel syndrome" "dihydroxy docosatrienoic acid measurement" + "obsolete_Meckel syndrome" "oculocutaneous albinism type 4" "Postaxial polydactyly of toes" "Hypervolemia" @@ -27596,9 +27596,9 @@ "3-methyl-2-oxovalerate" "Solanum lycopersicum" "polymorphic light eruption" + "obsolete_Oculopharyngodistal myopathy" "hereditary pulmonary alveolar proteinosis" "cytokine" - "obsolete_Oculopharyngodistal myopathy" "protein FAM221A" "rheumatic disease" "macroglossia" @@ -27638,12 +27638,12 @@ "obsolete_atypical hemolytic-uremic syndrome with MCP/CD46 anomaly" "SGC-7901" "obsolete rare genetic refraction anomaly" - "obsolete_abdominal wall" "hereditary spastic paraplegia" + "obsolete_abdominal wall" "LIM domain-binding protein 1" "partial deletion of the long arm of chromosome 13" - "X-12510--2-aminooctanoic acid measurement" "Scapulohumeral muscular dystrophy" + "X-12510--2-aminooctanoic acid measurement" "obsolete_HEK293T" "Acid phosphatase deficiency" "familial syringomyelia" @@ -27670,8 +27670,8 @@ "gnb5-related intellectual disability-cardiac arrhythmia syndrome" "fraction C' precursor B cell" "Leishmania major" - "uremia" "level of beta-defensin 119 in blood serum" + "uremia" "oligosaccharidosis" "GM15510" "level of lipoprotein lipase in blood serum" @@ -27924,11 +27924,11 @@ "Venezuelan equine encephalitis" "Birt-Hogg-Dubé syndrome" "level of IST1 homolog in blood serum" + "obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" "childhood brain germinoma" "obsolete_loose anagen syndrome" "Elevated circulating 7-dehydrocholesterol concentration" "Bombyx mori" - "obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" "protein 4.1" "level of mitochondrial-processing peptidase subunit alpha in blood serum" "obsolete_duodenal atresia" @@ -27954,10 +27954,10 @@ "level of Sphingofungin B in blood serum" "bakers yeast extract measurement" "TRAP-Seq" + "Rare hereditary metabolic disease with peripheral neuropathy" "schwannomatosis" "level of surfeit locus protein 1 in blood serum" "MAGUK p55 subfamily member 2" - "Rare hereditary metabolic disease with peripheral neuropathy" "EP300-interacting inhibitor of differentiation 3" "protein S100-P" "level of protein YIPF6 in blood serum" @@ -28017,9 +28017,9 @@ "obsolete_X-linked intellectual disability, Stevenson type" "Abnormality of taste sensation" "left cardiac atrium" - "porphobilinogen deaminase measurement" "isolated microphthalmia 4" "insect head capsule" + "porphobilinogen deaminase measurement" "tricuspid atresia" "level of sorting nexin-1 in blood serum" "L-lactate dehydrogenase C chain" @@ -28070,9 +28070,9 @@ "vagus nerve" "level of BAG family molecular chaperone regulator 1 in blood serum" "Metazoa" - "X-11905 measurement" "obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene" "lysophosphatidylethanolamine 18:2" + "X-11905 measurement" "brachyolmia type 1, toledo type" "blood 2,4-di-tert-butylphenol measurement" "biotic plant treatment" @@ -28111,8 +28111,8 @@ "obsolete_atypical Norrie disease due to monosomy Xp11.3" "sleep time" "obsolete_hereditary spastic paraplegia" - "melanoma-associated antigen 6" "obsolete_bullous dystrophy, macular type" + "melanoma-associated antigen 6" "Developmental regression" "obsolete_focal dermal hypoplasia" "Cerebellar-facial-dental syndrome" @@ -28131,17 +28131,17 @@ "benign neoplasm of large intestine" "obsolete_Otopalatodigital syndrome" "serpin B4" - "frailty measurement" "digestive system melanoma" + "frailty measurement" "GM17846" "carcinoembryonic antigen-related cell adhesion molecule 8" "nuclear factor erythroid 2-related factor 1 measurement" "protein jagged-1 measurement" "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8" + "Holoprosencephaly - craniosynostosis" "low affinity immunoglobulin gamma Fc region receptor II-a measurement" "skin barrier function measurement" "obsolete marginal papular palmoplantar keratoderma" - "Holoprosencephaly - craniosynostosis" "Melon necrotic spot virus" "low density lipoprotein receptor adapter protein 1" "Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy" @@ -28181,8 +28181,8 @@ "bacterial esophagitis" "obsolete_Emery-Dreifuss muscular dystrophy" "splenic hemangioma" - "obsolete_visceral branch primordium" "level of integrin beta-8 in blood serum" + "obsolete_visceral branch primordium" "CS57515" "uncharacterized protein KIAA0040 (human)" "erythritol measurement" @@ -28193,10 +28193,10 @@ "pulmonary mucoepidermoid carcinoma" "Furuncle" "chromodomain-helicase-DNA-binding protein 7 measurement" + "Renal pseudohypoaldosteronism type 1" "GM17779" "t-SNARE domain-containing protein 1" "CORL88" - "Renal pseudohypoaldosteronism type 1" "Sertoli Cell-Only Syndrome" "respiratory infections, recurrent, and failure to thrive with or without diarrhea" "RL952" @@ -28240,9 +28240,9 @@ "chromobox protein homolog 2" "level of neuroplastin in blood serum" "selective IgA deficiency disease" - "Left-to-right shunt" "circumscribed cutaneous aplasia of the vertex" "spermatogenic failure 5" + "Left-to-right shunt" "CFBE41o-" "impetigo" "dehydrated hereditary stomatocytosis" @@ -28286,8 +28286,8 @@ "obsolete_growth retardation-mild developmental delay-chronic hepatitis syndrome" "Thymic Undifferentiated Carcinoma" "secretory carrier-associated membrane protein 5 measurement" - "growth hormone insensitivity with immune dysregulation 1, autosomal recessive" "delivery method" + "growth hormone insensitivity with immune dysregulation 1, autosomal recessive" "benign struma ovarii" "GM12006" "obsolete_circadian rhythm" @@ -28318,16 +28318,16 @@ "obsolete_root cap" "Lagopus lagopus scotica" "large adipocyte" - "heat shock response"@en "presumptive rhombomere 5" "gastrointestinal tract (lamina propria) macrophage" "cholesteryl stearate" "typhus" + "heat shock response"@en "Lessel-Kubisch syndrome" "acheiria, unilateral" "urinary 6‑hydroxymelatonin sulfate to creatinine ratio"@en - "renal fibrosis" "C38:5 phosphatidylethanolamine plasmalogen measurement" + "renal fibrosis" "serine/threonine-protein kinase PLK1 measurement" "TFRC-related combined immunodeficiency" "choroiditis" @@ -28397,8 +28397,8 @@ "level of shadow of prion protein in blood serum" "GM18526" "obsolete_metabolic myopathy" - "epilepsy, idiopathic generalized, susceptibility to, 17" "DSB-seq" + "epilepsy, idiopathic generalized, susceptibility to, 17" "level of hepatic leukemia factor in blood serum" "floral organ differentiation stage" "natural killer cell receptor 2B4 measurement" @@ -28414,8 +28414,8 @@ "obsolete_somite 3" "EFM19" "inherited" - "S-warfarin to R-warfarin ratio measurement" "level of group IID secretory phospholipase A2 in blood serum" + "S-warfarin to R-warfarin ratio measurement" "TYK-nu" "ampulla of vater squamous cell carcinoma" "familial isolated congenital asplenia" @@ -28563,8 +28563,8 @@ "ring chromosome 7" "free cholesterol:total lipids ratio"@en "triacylglycerol 46:0 measurement"@en - "age of onset of anorexia nervosa" "obsolete_dyssegmental dysplasia, Rolland-Desbuquois type" + "age of onset of anorexia nervosa" "aspartyl/asparaginyl beta-hydroxylase measurement" "vasculitis" "Thickened earlobes - conductive deafness" @@ -28628,9 +28628,9 @@ "xanthine metabolic process" "Adult onset" "upper face morphology measurement"@en - "killer cell lectin-like receptor subfamily B member 1" "macrophage cell line" "congenital pseudoarthrosis of the fibula" + "killer cell lectin-like receptor subfamily B member 1" "Tumor Lysis Syndrome" "abiotic plant treatment" "pleomorphic liposarcoma" @@ -28700,10 +28700,10 @@ "obsolete_hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency" "Multinodular goiter - cystic kidney - polydactyly" "casein kinase I isoform delta measurement" - "obsolete_primary qualitative or quantitative defects of alpha-dystroglycan" "Jacobsen syndrome" "pericarp" "GM17213" + "obsolete_primary qualitative or quantitative defects of alpha-dystroglycan" "ear infection" "level of pleckstrin homology domain-containing family A member 7 in blood serum" "germ cell" @@ -28818,8 +28818,8 @@ "IgG4-related disease" "pseudohyperaldosteronism type 2" "coagulation factor IXAB measurement" - "protein LDOC1" "N-methyl-6-pyridone-3-carboxamide" + "protein LDOC1" "proteasome subunit beta type-4" "partial duplication of chromosome 1" "femoral neuropathy" @@ -28865,9 +28865,9 @@ "1,3,7-trimethylurate measurement" "1-oleoylglycerol" "Gaucher disease type 1" - "GM17776" "Benign essential blepharospasm" "Shaken Baby Syndrome" + "GM17776" "Crohn ileitis" "kuru, susceptibility to" "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency" @@ -28890,20 +28890,20 @@ "obsolete posterior fossa malformation" "Child Behaviour Checklist assessment" "obsolete_Prader-Willi syndrome due to imprinting mutation" + "N-acetylglucosaminylasparagine measurement" "cholesterol in large HDL measurement " "leukosialin" - "N-acetylglucosaminylasparagine measurement" "level of YTH domain-containing protein 1 in blood serum" "mediastinitis" "obsolete_Duchenne and Becker muscular dystrophy" "level of Phosphatidylcholine (O-16:0_16:0) in blood serum" "Hyperapobetalipoproteinemia" "colorectal cancer" - "obsolete_Kufor-Rakeb syndrome" "obsolete_partial duplication of the short arm of chromosome 2" "obsolete_multiple epiphyseal dysplasia, Al-Gazali type" "refractory celiac disease" "level of inter-alpha-trypsin inhibitor heavy chain H1 in blood serum" + "obsolete_Kufor-Rakeb syndrome" "eukaryotic-type small ribosomal subunit protein uS10" "calcium-dependent secretion activator 2" "level of tripartite motif-containing protein 3 in blood serum" @@ -28938,8 +28938,8 @@ "serum gamma-glutamyl transferase measurement" "parametrium malignant neoplasm" "obsolete_neurofibromatosis type 2" - "HCCLM-3" "autosomal recessive limb-girdle muscular dystrophy type 2T" + "HCCLM-3" "melusin measurement" "level of opiorphin prepropeptide in blood serum" "Mt-0" @@ -28955,8 +28955,8 @@ "level of signal peptide, CUB and EGF-like domain-containing protein 3 in blood serum" "disturbed flow regions" "ARS-Seq" - "horse disease" "obsolete_acrofacial dysostosis, Weyers type" + "horse disease" "15-oxo-ETE" "epilepsy of infancy with migrating focal seizures" "level of negative elongation factor E in blood serum" @@ -28984,8 +28984,8 @@ "level of Phosphatidylcholine (16:1_18:0) in blood serum" "obsolete_blue rubber bleb nevus" "ribonuclease-like protein 10" - "Arrhythmia" "IgM plasmablast" + "Arrhythmia" "cholesteryl esters to total lipids in large HDL percentage " "distal trisomy 13q" "obsolete_congenital intestinal transport defect" @@ -29006,11 +29006,11 @@ "synaptotagmin-like protein 1" "HepaRG" "homeobox protein OTX1" - "spine bone mineral density change measurement" "enhancer of mRNA-decapping protein 4" + "spine bone mineral density change measurement" "thymic macrophage" - "acheiria, bilateral" "treprostinil dose measurement"@en + "acheiria, bilateral" "vascular endothelial growth factor B" "heavy metal poisoning" "obsolete_partial deletion of the short arm of chromosome 3" @@ -29026,8 +29026,8 @@ "Solenopsis invicta" "dorsal ectoderm anlage in statu nascendi" "obsolete_maternal uniparental disomy of chromosome 16" - "rhabdomyolysis, susceptibility to, 1" "level of leucine-rich repeat and fibronectin type III domain-containing protein 1 in blood serum" + "rhabdomyolysis, susceptibility to, 1" "glutathione peroxidase 2" "cone dystrophy 1, X-linked" "macromolecule glycosylation" @@ -29078,9 +29078,9 @@ "betacellulin measurement" "obsolete_autosomal dominant hereditary axonal motor and sensory neuropathy" "obsolete_adult-onset nemaline myopathy" - "Rare genetic endocrine disease" "hypomethylated partial restriction digest" "X-18887 measurement" + "Rare genetic endocrine disease" "lysophosphatidylethanolamine 20:4" "right internal carotid artery" "autosomal recessive spinocerebellar ataxia 2" @@ -29095,13 +29095,13 @@ "TYK-nu.CP-r" "Finnish type amyloidosis" "prostate cancer cell line" - "Endometrial Hyperplasia without Atypia" "Galloway-Mowat syndrome 10" + "Endometrial Hyperplasia without Atypia" "GM17262" "demyelinating polyneuropathy" - "protein phosphatase 1L" "dense deposit disease" "Glycine max" + "protein phosphatase 1L" "GM12043" "familial mucolipidosis" "spermatogenic failure 47" @@ -29132,10 +29132,10 @@ "small adipocyte" "Abnormal circulating lactate dehydrogenase concentration" "delayed reward discounting measurement" - "obsolete_Coats plus syndrome" "female reproductive endometrioid cancer" "Siddiqi syndrome" "zinc finger protein 415" + "obsolete_Coats plus syndrome" "partial duplication of the short arm of chromosome 16" "CD209 antigen measurement" "commensal Clostridium infectious disease" @@ -29144,8 +29144,8 @@ "obsolete_lissencephaly with cerebellar hypoplasia type C" "level of carnitine O-acetyltransferase in blood serum" "AIDS-related disease" - "Yoon-Bellen neurodevelopmental syndrome" "obsolete_autosomal recessive cerebellar ataxia with late-onset spasticity" + "Yoon-Bellen neurodevelopmental syndrome" "childhood teratoma of the ovary" "level of mitochondrial glycine transporter in blood serum" "radio-renal syndrome" @@ -29198,8 +29198,8 @@ "fraction D precursor B cell" "RCBTB1-related retinopathy" "ureterolithiasis" - "47,XYY syndrome" "obsolete_hyperlysinemia" + "47,XYY syndrome" "GM18951" "phospholipids:total lipids ratio"@en "level of Phosphatidylcholine (O-16:1_18:1) in blood serum" @@ -29289,8 +29289,8 @@ "level of AP-4 complex accessory subunit Tepsin in blood serum" "larval stage" "obsolete_Sandhoff disease" - "Lactobacillus delbrueckii" "epidermolytic hyperkeratosis 2" + "Lactobacillus delbrueckii" "16-Ketoestradiol" "DOCK2 deficiency" "autosomal dominant oculocutaneous albinism" @@ -29357,15 +29357,15 @@ "spinocerebellar ataxia with epilepsy" "level of ataxin-3 in blood serum" "beta-defensin 112" - "Autosomal recessive spastic paraplegia type 7" "Abnormality of prenatal development or birth" + "Autosomal recessive spastic paraplegia type 7" "Spinal Osteophytosis" "estrogen sulfotransferase measurement" "hemorrhagic fever" "coiled-coil domain-containing protein 9" "cardiofacioneurodevelopmental syndrome" - "obsolete_Colobomatous microphthalmia" "TERV" + "obsolete_Colobomatous microphthalmia" "duodenitis" "childhood oligodendroglioma" "SNU-251"@en @@ -29390,8 +29390,8 @@ "decadienedioic acid (C10:2-DC) measurement" "activated protein C measurement" "level of nuclear receptor 2C2-associated protein in blood serum" - "obsolete_Muckle-Wells syndrome" "kidney disease" + "obsolete_Muckle-Wells syndrome" "cochlin" "Branchio-otic syndrome" "geographic tongue" @@ -29410,8 +29410,8 @@ "squamous cell lung carcinoma" "pseudohypoaldosteronism, type IB2, autosomal recessive" "ubiquitin-like protein ISG15 measurement" - "blood barium measurement"@en "shoulder and thorax deformity-congenital heart disease syndrome" + "blood barium measurement"@en "Amelia" "pituitary adenocarcinoma" "sympathetic nervous system" @@ -29444,8 +29444,8 @@ "congenital pseudoarthrosis of the radius" "microcytic anemia with liver iron overload" "total cholesterol in small VLDL" - "spine bone mineral density" "phenylketonuria" + "spine bone mineral density" "ACTH-independent adrenal Cushing syndrome, somatic" "10x 3' v1" "chromosome 6q24-q25 deletion syndrome" @@ -29503,8 +29503,8 @@ "quality"@en "quality" "partial duplication of chromosome 2" - "level of cerberus in blood serum" "fetal erythroblastosis" + "level of cerberus in blood serum" "BL-2" "junctophilin-3 measurement" "obsolete_congenital enteropathy due to enteropeptidase deficiency" @@ -29707,9 +29707,9 @@ "5alpha-pregnane-3beta,20alpha-diol disulfate" "angiomyolipoma" "obsolete_maternal uniparental disomy of chromosome 20" - "frostbite" "cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies" "level of serine palmitoyltransferase 1 in blood serum" + "frostbite" "glutathione peroxidase 3" "obsolete_partial deletion of chromosome 4" "congenital heart defects, multiple types, 1, X-linked" @@ -29773,8 +29773,8 @@ "rectal carcinoma" "growth protocol" "Pierpont syndrome" - "serum alanine aminotransferase measurement" "obsolete_synpolydactyly type 1" + "serum alanine aminotransferase measurement" "intracranial meningioma" "DOORS syndrome" "West Nile encephalitis" @@ -29971,12 +29971,12 @@ "notochordal tumor" "duodenal benign neoplasm" "Swiss2" - "autosomal dominant osteopetrosis 1" "obsolete_Zellweger-like syndrome without peroxisomal anomalies" + "autosomal dominant osteopetrosis 1" "level of cAMP-dependent protein kinase type II-beta regulatory subunit in blood serum" "praziquantel" - "Achondrogenesis type 2" "squamous cell bile duct carcinoma" + "Achondrogenesis type 2" "ADAMTS13 activity measurement" "obsolete_sarcoidosis" "DNA sequencer" @@ -30074,9 +30074,9 @@ "spinocerebellar ataxia type 36" "chronic gonorrhea of cervix" "hereditary spastic paraplegia 38" - "hyperestrogenism" "brachydactyly" "testicular seminoma" + "hyperestrogenism" "Camptocormia" "KMS-28PE" "obsolete_cardinal system" @@ -30113,8 +30113,8 @@ "visceral heterotaxy" "obsolete_atrial myocardium" "IRIDA syndrome" - "obsolete_Mucolipidosis type II" "dihydropteridine reductase deficiency" + "obsolete_Mucolipidosis type II" "probable aminopeptidase NPEPL1" "reticulum cell sarcoma" "severe combined immunodeficiency due to CARD11 deficiency" @@ -30135,23 +30135,23 @@ "level of probable E3 ubiquitin-protein ligase HERC4 in blood serum" "BT474" "level of ermin in blood serum" - "myoclonic-astatic epilepsy" "leucine-rich repeat serine/threonine-protein kinase 2 measurement" + "myoclonic-astatic epilepsy" "mirror polydactyly-vertebral segmentation-limbs defects syndrome" "stem Cell Growth Factor-beta measurement" - "appetite-regulating hormone measurement" "renovascular hypertension" + "appetite-regulating hormone measurement" + "Swiss3" "R11" "splenogonadal fusion-limb defects-micrognathia syndrome" - "Swiss3" "sporadic idiopathic steroid-resistant nephrotic syndrome" "phosphatidylcholine 38:6 measurement"@en "obsolete_brain stem" "5-oxo-ETE" "RNA polymerase II subunit A C-terminal domain phosphatase SSU72 measurement" "MAM domain-containing glycosylphosphatidylinositol anchor protein 1" - "obsolete_common variable immunodeficiency" "obsolete_Marfan syndrome type 1" + "obsolete_common variable immunodeficiency" "level of isochorismatase domain-containing protein 1 in blood serum" "PAS-Seq" "dehydroshikimate measurement" @@ -30160,9 +30160,9 @@ "GM12234" "congenital pseudoarthrosis of the ulna" "eukaryotic translation initiation factor 1A, X-chromosomal measurement" - "concentration of medium LDL particles measurement" "diacylglycerol 34:0 measurement" "Abnormality of mouth shape" + "concentration of medium LDL particles measurement" "hip bone mineral density" "obsolete autosomal dominant limb-girdle muscular dystrophy type 1A" "SiHa" @@ -30261,8 +30261,8 @@ "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome" "level of kidney-associated antigen 1 in blood serum" "level of 14-3-3 protein eta in blood serum" - "obsolete_ventricular septal defect" "intraductal papilloma" + "obsolete_ventricular septal defect" "CD8-alpha-beta-positive, alpha-beta intraepithelial T cell" "petal differentiation and expansion stage" "level of Phosphatidylcholine (O-16:0_18:1) in blood serum" @@ -30311,8 +30311,8 @@ "Adult-onset dystonia-parkinsonism" "level of Myb/SANT-like DNA-binding domain-containing protein 2 in blood serum" "Hohenlieth ecotype" - "sclerosteosis 2" "MHC-II-positive classical monocyte" + "sclerosteosis 2" "obsolete_ejaculatory duct" "acyl-coenzyme A thioesterase THEM4" "obsolete_hand-foot-genital syndrome" @@ -30382,8 +30382,8 @@ "open-angle glaucoma" "obsolete_trigeminal neural crest" "protein S100-A5 measurement" - "SU-DHL-4" "salivary gland body primordium" + "SU-DHL-4" "splicing factor 3B subunit 4" "malignant mixed epithelial and mesenchymal tumor of cervix uteri" "galactose measurement"@en @@ -30402,8 +30402,8 @@ "Immunodeficiency syndrome with autoimmunity" "level of cAMP-specific 3',5'-cyclic phosphodiesterase 4C in blood serum" "NCI-H2110" - "1-oleoyl-sn-glycero-3-phosphoethanolamine" "Rare genetic parathyroid disease and phosphocalcic metabolism disorder" + "1-oleoyl-sn-glycero-3-phosphoethanolamine" "small ribosomal subunit protein eS25" "metaxin-2" "Rho-related GTP-binding protein RhoD" @@ -30418,8 +30418,8 @@ "obsolete_syndromic anorectal malformation" "Marcus-Gunn syndrome" "obsolete_oculomaxillofacial dysostosis" - "hyperpigmentation of the skin" "level of lipocalin-like 1 protein in blood serum" + "hyperpigmentation of the skin" "39S ribosomal protein L52, mitochondrial measurement" "Abnormality of the thyroid gland" "beta-1,4-galactosyltransferase 5" @@ -30432,9 +30432,9 @@ "globus pallidus" "pancreatic secretory trypsin inhibitor protein measurement"@en "cholesterol in large VLDL measurement " - "Autosomal dominant limb-girdle muscular dystrophy type 1B" "xylose measurement" "Herpesvirus saimiri (strain 11)" + "Autosomal dominant limb-girdle muscular dystrophy type 1B" "heterogeneous nuclear ribonucleoproteins A2/B1 measurement" "rectal duplication" "obsolete_grange syndrome" @@ -30511,9 +30511,9 @@ "I-urobilinogen measurement" "isthmus cingulate cortex volume measurement"@en "sperm-associated antigen 11A measurement" - "obsolete_Salt-and-pepper syndrome" "2-ketoisovaleric acid measurement" "level of ADP-ribosylation factor 5 in blood serum" + "obsolete_Salt-and-pepper syndrome" "Mitochondrial myopathy - lactic acidosis - deafness" "aspartate aminotransferase measurement" "C-type lectin domain family 2 member A measurement" @@ -30536,8 +30536,8 @@ "congenital disorder of glycosylation, type Iw, autosomal dominant" "cholesteryl ester 15:0 measurement" "facial nerve" - "AG08904" "Susac Syndrome" + "AG08904" "extracellular sulfatase Sulf-2 measurement" "Transitional Meningioma" "volume percent" @@ -30588,8 +30588,8 @@ "obsolete_spinocerebellar ataxia type 18" "epithelioid type angiomyolipoma" "obsolete_Turner syndrome due to structural X chromosome anomalies" - "CS57677" "obsolete_maternal uniparental disomy of chromosome 21" + "CS57677" "cytokine receptor-like factor 1:cardiotrophin-like cytokine factor 1 complex measurement" "level of inositol 1,4,5-triphosphate receptor associated 2 in blood serum" "thioredoxin domain-containing protein 11 measurement" @@ -30686,8 +30686,8 @@ "germinoma" "duodenal obstruction" "Swiss22" - "Benign Conjunctival Neoplasm" "site" + "Benign Conjunctival Neoplasm" "obsolete_partial deletion of the long arm of chromosome 12" "progressive deafness with stapes fixation" "obsolete_Schinzel-Giedion syndrome" @@ -30786,16 +30786,16 @@ "adapter molecule CRK measurement" "level of KH domain-containing RNA-binding protein QKI in blood serum" "dihomo-linolenoyl-choline measurement" - "premature menopause" - "non-small cell lung adenocarcinoma" "root tip" - "faciodigitogenital syndrome" + "premature menopause" "obsolete_ventricular myocardium" "hypertrophy" - "cryptosporidiosis-chronic cholangitis-liver disease syndrome" - "High anterior hairline" + "non-small cell lung adenocarcinoma" + "faciodigitogenital syndrome" "major vault protein" "osteomyelitis" + "High anterior hairline" + "cryptosporidiosis-chronic cholangitis-liver disease syndrome" "discretized differential expression" "peptide measurement"@en "KMS-34" @@ -30815,8 +30815,8 @@ "lipoprotein lipase" "ovarian adenosarcoma" "shigella phage virus seropositivity" - "ig Kappa chain V-I region HK102- like measurement" "neurogenic locus notch homolog protein 1 measurement" + "ig Kappa chain V-I region HK102- like measurement" "segmentation 20-25 somites" "LY294002" "Coronaviridae infectious disease" @@ -30824,9 +30824,9 @@ "obsolete_locus coeruleus" "paragraph delayed recall measurement" "level of pyridoxal phosphate phosphatase PHOSPHO2 in blood serum" - "obsolete_X-linked sideroblastic anemia" "leukocyte immunoglobulin-like receptor subfamily A member 6 measurement" "level of RNA polymerase-associated protein RTF1 in blood serum" + "obsolete_X-linked sideroblastic anemia" "Uniparental disomy of maternal origin" "minor histocompatibility congenic strain" "T-cell receptor-associated transmembrane adapter 1" @@ -30895,8 +30895,8 @@ "adhesion G protein-coupled receptor F5" "Bacillus subtilis" "heart conduction disease" - "cystine urolithiasis"@en "Pedriza ecotype" + "cystine urolithiasis"@en "glycochenodeoxycholate measurement"@en "congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome" "obsolete_liver (Bos taurus)" @@ -30940,9 +30940,9 @@ "glycochenodeoxycholate 3-O-glucuronide measurement"@en "reference sample" "obsolete_classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" + "obsolete_oromandibular dystonia" "aldehyde dehydrogenase family 3 member B1" "malate dehydrogenase, mitochondrial" - "obsolete_oromandibular dystonia" "level of kynurenine/alpha-aminoadipate aminotransferase, mitochondrial in blood serum" "obsolete_tibial muscular dystrophy" "Patch-seq" @@ -30956,11 +30956,11 @@ "CLN6 disease" "level of nuclear receptor subfamily 5 group A member 2 in blood serum" "obsolete_X-linked mandibulofacial dysostosis" - "level of anosmin-1 in blood serum" "prostaglandin reductase 1 measurement" + "level of anosmin-1 in blood serum" "X-23662 measurement" - "isocitrate dehydrogenase [NADP] cytoplasmic" "level of transcriptional repressor protein YY1 in blood serum" + "isocitrate dehydrogenase [NADP] cytoplasmic" "familial prostate carcinoma" "obsolete_adenohypophyseal placode" "hyperinsulinism-hyperammonemia syndrome" @@ -30979,8 +30979,8 @@ "Progressive hearing impairment" "NCI-H2106" "level of catenin alpha-1 in blood serum" - "Golgi phosphoprotein 3" "alanine aminotransferase 1 measurement" + "Golgi phosphoprotein 3" "neurodevelopmental disorder with central and peripheral motor dysfunction" "posthitis" "level of Ras-related protein Rab-38 in blood serum" @@ -30989,9 +30989,9 @@ "methyl indole-3-acetate measurement" "Aspiration" "spondyloperipheral dysplasia" - "coloboma of eyelid" "electrocardiography" "Beckwith-Wiedemann syndrome due to 11p15 microduplication" + "coloboma of eyelid" "obsolete_left atrium" "delphinine measurement" "anti-CD28" @@ -31068,16 +31068,16 @@ "endodermal sinus tumor" "NCI-H2135" "protein kish-A measurement" - "obsolete_Holzgreve-Wagner-Rehder syndrome" "Spinacia oleracea" + "obsolete_Holzgreve-Wagner-Rehder syndrome" "chondromodulin-1" - "palatine tonsil" "financial situation satisfaction measurement" + "palatine tonsil" "internal yolk syncytial layer" "freemartinism" - "L-Serine measurement" "level of Phosphatidylcholine (16:1_20:4) in blood serum" "obsolete_KARPAS 422" + "L-Serine measurement" "Zinnia violacea" "galactoside alpha-(1,2)-fucosyltransferase 2" "obsolete_kyphomelic dysplasia" @@ -31097,8 +31097,8 @@ "level of plastin-2 in blood serum" "sweet beverage consumption measurement" "SU-DHL-8" - "level of glutathione S-transferase theta-2 in blood serum" "synaptotagmin-8 measurement" + "level of glutathione S-transferase theta-2 in blood serum" "stromal membrane-associated protein 1" "Medial Tibial Stress Syndrome" "male breast carcinoma" @@ -31153,8 +31153,8 @@ "obsolete_ethylmalonic encephalopathy" "lysosomal acid phosphatase measurement" "pharyngula prim-15" - "2-hydroxybehenate measurement" "serum albumin measurement" + "2-hydroxybehenate measurement" "caspase recruitment domain-containing protein 9" "Leber congenital amaurosis 17" "level of homeobox protein Hox-A5 in blood serum" @@ -31165,9 +31165,9 @@ "obsolete_seminal vesicle" "obsolete_qualitative or quantitative defects of fukutin" "calretinin" + "obsolete_mosaic monosomy X" "level of cytosolic beta-glucosidase in blood serum" "admixed ancestry"@en - "obsolete_mosaic monosomy X" "monoatomic ion" "Ralstonia phage RSL1" "polydactyly, postaxial, type A1" @@ -31207,8 +31207,8 @@ "ubiquitin-conjugating enzyme E2 N" "obsolete_interventricular septum aneurysm" "nasal cavity and paranasal sinus neoplasm" - "Atrial stand still" "grancalcin" + "Atrial stand still" "protein Largen measurement" "response to atorvastatin" "oligonucleotide synthesizer" @@ -31261,8 +31261,8 @@ "obsolete_hyomandibula" "intellectual disability and myopathy syndrome" "Takayasu arteritis" - "Unclassified Renal Cell Carcinoma" "ezrin measurement" + "Unclassified Renal Cell Carcinoma" "obsolete_dorsal histoblast nest abdominal" "sphingomyelin d18:1/16:0" "glutathione peroxidase 7" @@ -31304,8 +31304,8 @@ "benign prostatic hyperplasia" "azathioprine" "carnitine palmitoyl transferase 1A deficiency" - "1-(1-enyl-oleoyl)-2-docosahexaenoyl-GPE (P-18:1/22:6) measurement" "X-21815 measurement" + "1-(1-enyl-oleoyl)-2-docosahexaenoyl-GPE (P-18:1/22:6) measurement" "CD38-negative immature B cell" "Caudal appendage - deafness" "AB2" @@ -31350,8 +31350,8 @@ "skin glomus tumor" "MC-Hi-C" "Charcot-Marie-Tooth disease type 4" - "X-24870 measurement" "cardiovascular cancer" + "X-24870 measurement" "autosomal dominant progressive external ophthalmoplegia" "peritrophic membrane" "troglitazone" @@ -31408,9 +31408,9 @@ "tumor necrosis factor ligand superfamily member 12 measurement" "BJ" "ras-related protein Rab-26 measurement" + "CMRF35-like molecule 8 measurement" "lethal congenital contracture syndrome 3" "congenital cataracts-facial dysmorphism-neuropathy syndrome" - "CMRF35-like molecule 8 measurement" "paragangliomas 5" "rab gdp dissociation inhibitor beta measurement" "RIP" @@ -31480,8 +31480,8 @@ "obsolete_lens shape anomaly" "hyoid muscle" "obsolete_head mesenchyme" - "obsolete_familial isolated restrictive cardiomyopathy" "hippocampal CA3 volume" + "obsolete_familial isolated restrictive cardiomyopathy" "Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA" "benzbromarone" "sphingomyelin 34:1 measurement" @@ -31528,18 +31528,18 @@ "levetiracetam" "primary root tip" "obsolete_spinocerebellar ataxia type 1" - "obsolete_dimethylglycine dehydrogenase deficiency" "mural granulosa cell" + "obsolete_dimethylglycine dehydrogenase deficiency" "semaphorin-4B" "urethra squamous cell carcinoma" "PA-1" "stomatitis" "ovarian mixed germ cell neoplasm" "1-oleoyl-GPG (18:1) measurement" + "D-Trehalose measurement" "BS-Seq" "eyebrow duplication-syndactyly syndrome" "level of low-density lipoprotein receptor class A domain-containing protein 3 in blood serum" - "D-Trehalose measurement" "N-acetylphenylalanine measurement" "blepharophimosis - intellectual disability syndrome, MKB type" "obsolete_epidermolysis bullosa simplex" @@ -31693,9 +31693,9 @@ "leucine-rich repeat-containing protein 20" "abnormal glucose tolerance" "calcium metabolic disease" - "sclerostin measurement"@en "SH3 and multiple ankyrin repeat domains protein 1" "lipoprotein-associated phospholipase A(2) measurement" + "sclerostin measurement"@en "palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome" "tumor necrosis factor receptor superfamily member 10C" "Swiss8" @@ -31708,8 +31708,8 @@ "obsolete_cephalocele" "monensin A" "obsolete coloboma of optic disk" - "Orofaciodigital syndrome type 8" "demethylphosphinothricin measurement" + "Orofaciodigital syndrome type 8" "acromesomelic dysplasia 2B" "central nervous system vasculitis" "protein PALS2" @@ -31778,14 +31778,14 @@ "GM17124" "level of zinc finger protein 526 in blood serum" "signal recognition particle 14 kDa protein" - "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" "flower development stage" + "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" "susceptibility to HIV infection" "obsolete_gray platelet syndrome" "carbon monoxide" - "NCI-H2172" "level of retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma in blood serum" "RPGR-related retinopathy" + "NCI-H2172" "atrophic glossitis" "developmental and epileptic encephalopathy, 52" "response to vitamin" @@ -31833,18 +31833,18 @@ "calcitonin gene-related peptide 2" "cerebrooculofacioskeletal syndrome 1" "event death" - "obsolete_thoracolumbosacral spina bifida cystica" "RCC-10 cell" "Oculomotor apraxia" + "obsolete_thoracolumbosacral spina bifida cystica" "orofaciodigital syndrome V" "ST-1" "Caki1" "epidermolysis bullosa, junctional 4, intermediate" "multiple acyl-CoA dehydrogenase deficiency, severe neonatal type" "2-stearoyl-GPI (18:0) measurement" + "3-N-Methyl-L-histidine measurement" "Coats plus syndrome" "beta-crystallin B1" - "3-N-Methyl-L-histidine measurement" "obsolete pure or complex autosomal recessive spastic paraplegia" "alcohol dehydrogenase 4 measurement" "Paget disease" @@ -31914,11 +31914,11 @@ "antibody mediated epilepsy" "Abnormal cerebral white matter morphology" "polypeptide N-acetylgalactosaminyltransferase 14" - "level of TNFAIP3-interacting protein 1 in blood serum" "isolated sedoheptulokinase deficiency" + "level of TNFAIP3-interacting protein 1 in blood serum" "CXCL6 measurement" - "lateral orbital frontal cortex volume measurement"@en "spliceosome RNA helicase DDX39B measurement" + "lateral orbital frontal cortex volume measurement"@en "level of ADP-ribosylation factor GTPase-activating protein 1 in blood serum" "CS57716" "X-13844 measurement" @@ -31975,8 +31975,8 @@ "obsolete_epidermolysis bullosa simplex with anodontia/hypodontia" "chemotherapy-induced gastrointestinal mucositis" "folate receptor alpha" - "Partial deletion of the short arm of chromosome 12" "congenital heart defects, multiple types, 5" + "Partial deletion of the short arm of chromosome 12" "endometriosis of pelvic peritoneum" "oleoyl phenylalanine measurement" "zygodactyly type 1" @@ -32037,8 +32037,8 @@ "Staphylococcus aureus" "obsolete_Scott syndrome" "NKG2D ligand 1 measurement" - "sensory ataxia" "paratyphoid fever" + "sensory ataxia" "level of MANSC domain-containing protein 4 in blood serum" "retinal telangiectasia" "level of protein C-ets-2 in blood serum" @@ -32103,14 +32103,14 @@ "undecenoylcarnitine (C11:1) measurement" "blood galactosylceramidase activity measurement"@en "CADASIL" - "X-06350 measurement" "obsolete_gonad primordium" + "X-06350 measurement" "Spastic paraplegia - glaucoma - intellectual disability" "ectodermal dysplasia-blindness syndrome" - "obsolete_Liddle syndrome" "coronary atherosclerosis measurement" - "fully-elongated embryo Ce" + "obsolete_Liddle syndrome" "microcephalic primordial dwarfism, Alazami type" + "fully-elongated embryo Ce" "Abnormality of the gastrointestinal tract" "level of MAP6 domain-containing protein 1 in blood serum" "1-linolenoyl-GPE (18:3) measurement" @@ -32122,23 +32122,23 @@ "EEG with generalized epileptiform discharges" "cholesteryl ester 17:0 measurement" "glycerophosphoserine" - "Hypotrichosis - lymphedema - telangiectasia" "Burkholderia lata" "level of adaptin ear-binding coat-associated protein 2 in blood serum" "distal convoluted tubule" + "Hypotrichosis - lymphedema - telangiectasia" "Tarlov Cysts" - "Undifferentiated Gallbladder Carcinoma" "9q31.1q31.3 microdeletion syndrome" + "Undifferentiated Gallbladder Carcinoma" "autosomal recessive nonsyndromic hearing loss 86" "pharyngeal arch artery 4" "glycogen storage disease due to liver phosphorylase kinase deficiency" "cochlin measurement" "pregnancy-specific beta-1-glycoprotein 4" + "obsolete_hyperkeratosis lenticularis perstans" + "Anonychia - microcephaly" "anti-CTCF" "chromosome 14q11-q22 deletion syndrome" - "Anonychia - microcephaly" "thioredoxin-like protein 4A" - "obsolete_hyperkeratosis lenticularis perstans" "2q37 microdeletion syndrome" "Drechslera sp." "obsolete_kidney (Bos taurus)" @@ -32208,8 +32208,8 @@ "Motor delay" "level of F-actin-capping protein subunit beta in blood serum" "RNA polymerase II elongation factor ELL" - "high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor measurement" "streptococcus virus phage virus seropositivity" + "high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor measurement" "colon neuroendocrine neoplasm" "TIP41-like protein" "triacylglycerol 48:2 measurement"@en @@ -32324,8 +32324,8 @@ "level of bMERB domain-containing protein 1 in blood serum" "breast neuroendocrine neoplasm" "sublingual gland carcinoma" - "uveal disorder" "obsolete_developmental anomaly of metabolic origin" + "uveal disorder" "embryonic cuprophilic cell" "Autosomal dominant spastic paraplegia type 42" "X-03003 measurement" @@ -32355,8 +32355,8 @@ "piezo-type mechanosensitive ion channel component 1" "Syndrome with hypoparathyroidism" "Microcephaly - cleft palate" - "carcinoma of floor of mouth" "beta wave measurement" + "carcinoma of floor of mouth" "opercle" "obsolete_persistent combined dystonia" "1-docosahexaenoyl-GPE (22:6) measurement" @@ -32438,8 +32438,8 @@ "DNA-binding protein SATB1 measurement" "protein measurement" "tumor necrosis factor, receptor superfamily, member 5 measurement"@en - "skin carcinoma" "Swiss9" + "skin carcinoma" "body ratio measurement" "obsolete_distal trisomy 2q" "phosphatidylcholine acyl-alkyl C34:2 measurement" @@ -32499,16 +32499,16 @@ "deformed epidermal autoregulatory factor 1 homolog measurement" "obsolete_Treacher-Collins syndrome" "obsolete_diffuse palmoplantar keratoderma with painful fissures" - "chromosome 2 disorder" "Epibulbar lipodermoid - preauricular appendage - polythelia" + "chromosome 2 disorder" "encephalopathy, progressive, with amyotrophy and optic atrophy" "Meningomyelocele" "level of flavin-containing monooxygenase 3 in blood serum" "CS57715" "level of leucine-rich repeat transmembrane neuronal protein 2 in blood serum" "sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" - "Descemet's membrane" "obsolete_Roberts syndrome" + "Descemet's membrane" "immature gamma-delta T cell" "obsolete_Goldberg-Shprintzen megacolon syndrome" "obsolete_isolated growth hormone deficiency type IB" @@ -32590,12 +32590,12 @@ "obsolete_isolated focal palmoplantar keratoderma" "obsolete_delayed membranous cranial ossification" "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 measurement" + "time to first cigarette measurement" "enzootic pneumonia of calves" "Kin-0" "level of pleckstrin homology domain-containing family M member 2 in blood serum" "Abnormality of the mouth" "Leber-like hereditary optic neuropathy, autosomal recessive 2" - "time to first cigarette measurement" "autosomal recessive Parkinson disease 14" "spectrophotometer" "collagen alpha-1(VIII) chain measurement" @@ -32768,10 +32768,10 @@ "5-oxo-ETE measurement" "desmosterolosis" "cysteine sulfinic acid measurement" - "PC(19:3(10Z,13Z,16Z)/0:0)" "obsolete_hereditary sclerosing poikiloderma with tendon and pulmonary involvement" - "Zollinger-Ellison Syndrome" + "PC(19:3(10Z,13Z,16Z)/0:0)" "multiple sclerosis symptom measurement"@en + "Zollinger-Ellison Syndrome" "level of GRB2-related adapter protein in blood serum" "obsolete_congenital disorder of glycosylation" "complement C1q tumor necrosis factor-related protein 4" @@ -32843,8 +32843,8 @@ "pharyngeal arch artery 5" "neurogenic bowel" "cytoplasmic tyrosine-protein kinase BMX measurement" - "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" "wet beriberi" + "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" "Muscle fiber actin filament accumulation" "obsolete major hypertriglyceridemia" "chromosome 16p13.3 duplication syndrome" @@ -32873,9 +32873,9 @@ "proteasome assembly chaperone 4" "obsolete_biomaterial factor" "level of putative caspase recruitment domain-containing protein 17P in blood serum" + "obsolete_ocular motor apraxia, Cogan type" "RNA polymerase II elongation factor ELL2" "level of isopentenyl-diphosphate Delta-isomerase 1 in blood serum" - "obsolete_ocular motor apraxia, Cogan type" "corrinoid adenosyltransferase MMAB" "4q21 microdeletion syndrome" "N-oleoyl taurine measurement" @@ -32949,8 +32949,8 @@ "neurexophilin-3 measurement" "obsolete class I glucose-6-phosphate dehydrogenase deficiency" "pantothenate kinase 3" - "collagen type II trimer" "X-15666 measurement" + "collagen type II trimer" "level of N-acetylglucosamine in blood" "insulin growth factor-like family member 3 measurement" "WAP four-disulfide core domain protein 2" @@ -32986,9 +32986,9 @@ "level of vesicle-trafficking protein SEC22a in blood serum" "consortium member" "tartarate measurement" + "level of leukocyte cell-derived chemotaxin-2 in blood serum" "neurodevelopmental disorder with absent speech and movement and behavioral abnormalities" "obsolete_olfactory pit" - "level of leukocyte cell-derived chemotaxin-2 in blood serum" "CS57828" "incomplete abortion" "WAP four-disulfide core domain protein 12 measurement" @@ -33042,9 +33042,9 @@ "obsolete anophthalmia-microphthalmia syndrome" "stress-induced anxiety-like behavior" "obsolete_Genetic progeroid syndrome" - "plasmodium falciparum seropositivity" "penile cancer" "calpain-13" + "plasmodium falciparum seropositivity" "intestinal neuroendocrine neoplasm" "DnaJ homolog subfamily A member 2" "vitamin K-dependent clotting factors, combined deficiency of, type 2" @@ -33064,8 +33064,8 @@ "X-08402 measurement" "Glaucoma - sleep apnea" "Bone Anteversion" - "xylosyl- and glucuronyltransferase LARGE1" "HCC0630" + "xylosyl- and glucuronyltransferase LARGE1" "dendritic cell" "paternal 20q13.2q13.3 microdeletion syndrome" "protein dpy-30" @@ -33090,8 +33090,8 @@ "obsolete antenatal Bartter syndrome" "stromal membrane-associated protein 1 measurement" "Genetic cranial malformation" - "X-linked creatine transporter deficiency" "obsolete_entorhinal cortex" + "X-linked creatine transporter deficiency" "RUN and FYVE domain-containing protein 1 measurement" "SH3 and multiple ankyrin repeat domains protein 3" "Retinal pigment epithelial atrophy" @@ -33140,8 +33140,8 @@ "sodium-coupled monocarboxylate transporter 1" "obsolete inflammatory and toxic neuropathy" "Acromesomelia" - "phosphatidylcholine acyl-alkyl C34:3 measurement" "obsolete_bone marrow MMHCC" + "phosphatidylcholine acyl-alkyl C34:3 measurement" "HIV-associated neurocognitive disorder" "obsolete_Thiel-Behnke corneal dystrophy" "distal monosomy 13q" @@ -33305,8 +33305,8 @@ "juvenile nasopharyngeal angiofibroma" "bilateral parasagittal parieto-occipital polymicrogyria" "CD11c-low plasmacytoid dendritic cell" - "CCD-19Lu" "Young adult-onset Parkinsonism" + "CCD-19Lu" "ILSXISS19/TejJ" "serine/arginine-rich splicing factor 7" "Saccharum officinarum" @@ -33318,9 +33318,9 @@ "lysosome-associated membrane glycoprotein 3 measurement" "alpha-N-acetylglucosaminidase activity" "Placental Hemangioma" - "Borderline Exocrine Pancreatic Neoplasm" "autosomal dominant sensory ataxia 1" "BV173" + "Borderline Exocrine Pancreatic Neoplasm" "erythrocyte differentiation" "fallopian tube leiomyosarcoma" "viral infection of central nervous system" @@ -33360,8 +33360,8 @@ "icteric index" "obsolete_dysostosis, Stanescu type" "level of LIM domain-binding protein 1 in blood serum" - "level of calcium-binding protein 7 in blood serum" "Hypoplastic anterior commissure" + "level of calcium-binding protein 7 in blood serum" "Decreased response to growth hormone stimulation test" "level of transcription initiation factor IIB in blood serum" "rheumatoid arthritis" @@ -33403,8 +33403,8 @@ "parotid disease" "level of coiled-coil domain-containing protein 89 in blood serum" "COLO 857" - "Erythrokeratoderma \"en cocardes\"" "Glycine max cv. Williams 82." + "Erythrokeratoderma \"en cocardes\"" "salivary gland disease" "diffuse large B-cell lymphoma of the central nervous system" "Oguchi disease" @@ -33415,11 +33415,11 @@ "protein disulfide-isomerase measurement" "supraglottis cancer" "complement C4-A" - "Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency" "glaucoma-sleep apnea syndrome" "sinus histiocytosis with massive lymphadenopathy" "Fulminant hepatitis" "lysozyme-like protein 2 measurement" + "Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency" "Growth delay - hydrocephaly - lung hypoplasia" "epilepsy, juvenile absence, susceptibility to" "Headache" @@ -33461,9 +33461,9 @@ "S-methylmethionine measurement" "maternal uniparental disomy of chromosome 20" "obsolete_glutathione synthetase deficiency with 5-oxoprolinuria" - "obsolete_CHARGE syndrome" "susceptibility to influenza measurement"@en "level of growth factor receptor-bound protein 10 in blood serum" + "obsolete_CHARGE syndrome" "complement C1q tumor necrosis factor-related protein 5" "elongating embryo Ce" "uncharacterized protein C17orf67" @@ -33584,11 +33584,11 @@ "childhood pleomorphic rhabdomyosarcoma" "semen measurement"@en "single cell sequencing" + "acetaminophen glucuronide measurement" "level of Ran-specific GTPase-activating protein in blood serum" "obsolete_basibranchial bone" "ADpSGEGDFXAEGGGVR measurement" "glucose metabolism disease" - "acetaminophen glucuronide measurement" "maternal uniparental disomy of chromosome 22" "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome" "malignant non-epithelial tumor of ovary" @@ -33685,8 +33685,8 @@ "glycosaminoglycan xylosylkinase" "SU-DHL-2" "level of AN1-type zinc finger protein 5 in blood serum" - "topiramate" "hippocampal tail volume" + "topiramate" "level of prolyl 3-hydroxylase 1 in blood serum" "scATAC-seq" "L-homocitrulline" @@ -33763,8 +33763,8 @@ "lethal congenital glycogen storage disease of heart" "cyclic AMP-dependent transcription factor ATF-5" "invasive tubular breast carcinoma" - "obsolete_neuronal intranuclear inclusion disease" "level of steroidogenic acute regulatory protein, mitochondrial in blood serum" + "obsolete_neuronal intranuclear inclusion disease" "classic organic aciduria" "aortic measurement"@en "central bilateral macrogyria" @@ -33877,11 +33877,11 @@ "pili gemini" "tumor grade 3 or 4, general grading system" "glass-chapman-hockley syndrome" - "PDZ-Seq" "Bothnia retinal dystrophy" - "level of glucose-6-phosphate 1-dehydrogenase in blood serum" + "PDZ-Seq" "proerythroblast" "transverse colon" + "level of glucose-6-phosphate 1-dehydrogenase in blood serum" "N-nitrosodimethylamine" "antipsychotic drug use measurement" "male urethra" @@ -33896,11 +33896,11 @@ "autoimmune disorder of gastrointestinal tract" "data analyst" "Schwartz-Jampel syndrome" - "ribulose 5-phosphate" "Arrhinia - choanal atresia - microphthalmia" + "ribulose 5-phosphate" + "dicofol measurement"@en "Stable-Seq" "ectodermal dysplasia-cutaneous syndactyly syndrome" - "dicofol measurement"@en "lysophosphatidylcholine 16:1" "cantharidin" "response to varenicline" @@ -33983,8 +33983,8 @@ "dizziness" "hearing loss, autosomal recessive" "3-hydroxy-3-methylglutaric acid" - "obsolete_fatal familial insomnia" "polypeptide N-acetylgalactosaminyltransferase 4" + "obsolete_fatal familial insomnia" "level of troponin T, cardiac muscle in blood serum" "Williams syndrome" "obsolete_utering smooth muscle cell" @@ -34034,8 +34034,8 @@ "obsolete_blood" "optic nerve astrocytoma" "2-oxindole-3-acetate measurement" - "transcription profiling" "level of general transcription factor IIE subunit 1 in blood serum" + "transcription profiling" "mitogen-activated protein kinase kinase kinase 10" "protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2" "obsolete_autosomal recessive spastic paraplegia type 69" @@ -34044,8 +34044,8 @@ "obsolete_autosomal dominant nocturnal frontal lobe epilepsy" "DP-Seq" "neural tube basal plate" - "triglycerides in very large HDL measurement " "pituitary homeobox 2" + "triglycerides in very large HDL measurement " "sphingosylphosphorylcholine receptor" "obsolete_Robinow-like syndrome" "obsolete absent tibia-polydactyly syndrome" @@ -34162,8 +34162,8 @@ "Falco rusticolus" "obsolete_kapur-Toriello syndrome" "Dendritic keratitis" - "obsolete_late-onset retinal degeneration" "CD8-positive, CD28-negative, alpha-beta regulatory T cell" + "obsolete_late-onset retinal degeneration" "combined oxidative phosphorylation deficiency 55" "coagulation factor measurement" "T-cell surface protein tactile" @@ -34194,8 +34194,8 @@ "irritability measurement" "allergic conjunctivitis" "intestinal bulb" - "LP1" "qualitative or quantitative defects of FKRP" + "LP1" "alopecia, androgenetic, 1" "obsolete_essential fructosuria" "obsolete_non-syndromic esophageal malformation" @@ -34241,8 +34241,8 @@ "level of frataxin, mitochondrial in blood serum" "killer cell immunoglobulin-like receptor 2DL5A" "dihydrobiopterin measurement"@en - "radial nerve" "obsolete_FRAXF syndrome" + "radial nerve" "LCAT deficiency" "Mus musculus castaneus" "concentration of small VLDL particles" @@ -34261,8 +34261,8 @@ "triacylglycerol 52:3" "xanthinuria type I" "obsolete thrombotic disorder due to a constitutional platelet anomaly" - "Congenital neuronal ceroid lipofuscinosis" "dentin dysplasia" + "Congenital neuronal ceroid lipofuscinosis" "non-homologous end-joining factor 1 measurement" "obsolete_thanatophoric dysplasia type 1" "obsolete_craniodiaphyseal dysplasia" @@ -34331,8 +34331,8 @@ "nucleus" "level of mRNA decay activator protein ZFP36 in blood serum" "obsolete_Roch-Leri mesosomatous lipomatosis" - "nischarin measurement" "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" + "nischarin measurement" "CS57835" "CLN10 disease" "cocaine- and amphetamine-regulated transcript protein measurement" @@ -34361,8 +34361,8 @@ "HCC1195" "obsolete_inferior colliculus" "obsolete_cockayne syndrome" - "propionic acid measurement"@en "obsolete_spinal muscular atrophy with respiratory distress" + "propionic acid measurement"@en "obsolete_response to montelukast" "biomolecular annotation design" "smoking behavior" @@ -34380,10 +34380,10 @@ "pregnenediol sulfate (C21H34O5S) measurement" "collagen alpha-1(I) chain measurement" "tracheobronchial amyloidosis" - "molar mass unit" - "level of caspase recruitment domain-containing protein 9 in blood serum" "hippocampal atrophy" "obsolete rare eye disease due to a differentiation anomaly" + "molar mass unit" + "level of caspase recruitment domain-containing protein 9 in blood serum" "level of immediate early response gene 2 protein in blood serum" "acrylamide" "ceroid-lipofuscinosis neuronal protein 5 measurement" @@ -34392,8 +34392,8 @@ "cobalamin trafficking protein CblD" "palmoplantar keratoderma-esophageal carcinoma syndrome" "alphapapillomavirus 9 virus seropositivity" - "Canton-S" "cryptococcal meningitis" + "Canton-S" "JHH-2" "level of tRNA 2'-phosphotransferase 1 in blood serum" "spinocerebellar ataxia type 10" @@ -34410,9 +34410,9 @@ "activator of apoptosis harakiri" "X-08988 measurement" "adrenogenital syndrome" + "Glomerulonephritis - sparse hair - telangiectasis" "RK-13" "obsolete_forelimb" - "Glomerulonephritis - sparse hair - telangiectasis" "Brain Stem Hemorrhage, Traumatic" "Sarcomatoid Carcinoma" "amphoterin-induced protein 1 measurement" @@ -34642,8 +34642,8 @@ "obsolete_axial spondylometaphyseal dysplasia" "Male infertility with spermatogenesis disorder due to single gene mutation" "familial primary hypomagnesemia with normocalciuria and normocalcemia" - "obsolete_non-acquired combined pituitary hormone deficiency" "segmental progressive overgrowth syndrome with fibroadipose hyperplasia" + "obsolete_non-acquired combined pituitary hormone deficiency" "San Eleno ecotype" "X-12749 measurement" "Behcet's syndrome" @@ -34657,9 +34657,9 @@ "ribonucleotide biosynthetic process" "obsolete_acheiria, unilateral" "leptomyelolipoma" - "obsolete_xanthinuria type II" "a disintegrin and metalloproteinase with thrombospondin motifs 6 measurement" "craniosynostosis-cataract syndrome" + "obsolete_xanthinuria type II" "beta-1,4-galactosyltransferase 3 measurement" "level of carboxypeptidase N catalytic chain in blood serum" "Staphylococcus aureus subsp. aureus MSSA476" @@ -34680,15 +34680,15 @@ "DnaJ homolog subfamily A member 4 measurement" "Epstein-Barr virus-related tumor" "Rosa hybrid cultivar" - "obsolete_lymphangioleiomyomatosis" "epidermolysis bullosa simplex 7, with nephropathy and deafness" "chronic apical periodontitis" "sensory perception of taste" "CCD-29Lu" "arteriovenous malformations of the brain" - "microcephalic primordial dwarfism due to ZNF335 deficiency" "keratoconjunctivitis" "ILSXISS23/TejJ" + "microcephalic primordial dwarfism due to ZNF335 deficiency" + "obsolete_lymphangioleiomyomatosis" "regulation of system process" "congenital pseudoarthrosis of clavicle" "albinism-hearing loss syndrome" @@ -34729,8 +34729,8 @@ "Stuve-Wiedemann syndrome 2" "glioma susceptibility 1" "dexamethasone" - "obsolete_beta-ureidopropionase deficiency" "obsolete_acute myeloid leukemia with CEBPA somatic mutations" + "obsolete_beta-ureidopropionase deficiency" "descending colon" "PE RAD-Seq" "anxiety disorder measurement" @@ -34781,10 +34781,10 @@ "Dandy-Walker syndrome" "malignant breast myoepithelioma" "Unsteady gait" - "(15Z)-12-oxophyto-10,15-dienoic acid" "beta-1,4-galactosyltransferase 7 measurement" - "6,7-dihydropteridine reductase activity" + "(15Z)-12-oxophyto-10,15-dienoic acid" "level of Arg-Phe in blood" + "6,7-dihydropteridine reductase activity" "breakfast skipping measurement" "vortexer" "obsolete_posterior lateral line primordium" @@ -34807,8 +34807,8 @@ "antiemetic effect" "anatomical structure" "adult astrocytic tumor" - "obsolete_mild phenylketonuria" "obsolete_rapidly progressive glomerulonephritis" + "obsolete_mild phenylketonuria" "level of trinucleotide repeat-containing gene 6B protein in blood serum" "level of SLIT and NTRK-like protein 2 in blood serum" "embryonic lethality" @@ -34959,8 +34959,8 @@ "X-24970 measurement" "2-methylbutyroylcarnitine measurement" "obsolete partial autosomal monosomy" - "D-270MG"@en "GM17744" + "D-270MG"@en "triacylglycerol 50:2" "oral Crohn's disease" "unconventional myosin-VI measurement" @@ -34986,8 +34986,8 @@ "Amelogenesis imperfecta and gingival hyperplasia syndrome" "heat shock 70 kDa protein 6 measurement" "NKG2-E type II integral membrane protein measurement" - "L1 larva" "Trichiasis" + "L1 larva" "severe intellectual disability-progressive spastic diplegia syndrome" "amyotrophic lateral sclerosis type 18" "ATP-dependent RNA helicase DDX25" @@ -35154,9 +35154,9 @@ "lysophosphatidylethanolamine 22:6" "congenital muscular dystrophy" "hippuric acid measurement"@en - "obsolete_mesial temporal lobe epilepsy with hippocampal sclerosis" "obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma" "WT limb-blood syndrome" + "obsolete_mesial temporal lobe epilepsy with hippocampal sclerosis" "hemangiomas of small intestine" "insulinoma" "suppressor of cytokine signaling 7 measurement" @@ -35253,8 +35253,8 @@ "lachnospiraceae seropositivity" "benign choroid plexus neoplasm" "brain injury" - "human oral metagenome" "Ophrys fusca" + "human oral metagenome" "obsolete_hypercalcemia" "neurensin-1" "obsolete_familial episodic pain syndrome" @@ -35271,8 +35271,8 @@ "Myelofibrosis" "arthrogryposis, distal, type 2B3" "obsolete_renal tubular dysgenesis of genetic origin" - "alive with disease" "plastin-1 measurement" + "alive with disease" "level of myeloid-derived growth factor in blood serum" "size fractionation" "Hsp70-binding protein 1" @@ -35282,8 +35282,8 @@ "HCC1263" "pectoral fin skeleton" "myopathy, epilepsy, and progressive cerebral atrophy" - "carotid artery disease" "vitreous body disease" + "carotid artery disease" "multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3" "sulfotransferase 4A1" "2',3'-cyclic-nucleotide 3'-phosphodiesterase" @@ -35314,15 +35314,15 @@ "guanylate cyclase activator 2B" "obsolete syndromic keratoconus" "gamma-carboxyglutamate measurement" + "obsolete_distal trisomy 6q" "level of programmed cell death protein 6 in blood serum" "obsolete_neonatal glycine encephalopathy" + "X-12217 measurement" "MDAMB361" "level of Axin interactor, dorsalization-associated protein in blood serum" "level of scavenger receptor cysteine-rich domain-containing group B protein in blood serum" "loneliness measurement" - "X-12217 measurement" "breast adenocarcinoma" - "obsolete_distal trisomy 6q" "peptide chain release factor 1-like, mitochondrial" "obsolete_early-onset Lafora body disease" "cholesterol to total lipids in small LDL percentage " @@ -35356,9 +35356,9 @@ "obsolete_MELAS syndrome" "heparan-sulfate 6-o-sulfotransferase 1 measurement" "level of alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A in blood serum" + "Mahlavu" "level of retinoblastoma-like protein 2 in blood serum" "Epstein-Barr virus-associated malignant lymphoproliferative disorder" - "Mahlavu" "obsolete_split hand or/and split foot malformation" "level of beta-defensin 112 in blood serum" "twin-to-twin transfusion syndrome" @@ -35509,20 +35509,20 @@ "Muscle weakness" "obsolete_Lisch epithelial corneal dystrophy" "Alpers syndrome" - "pterin-4 alpha-carbinolamine dehydratase 1 deficiency" "set1/Ash2 histone methyltransferase complex subunit ASH2 measurement" + "pterin-4 alpha-carbinolamine dehydratase 1 deficiency" "obsolete_nanophthalmia" "milligram per deciliter" "childhood brain stem neoplasm" "trachea blood vessel" "obsolete_lateral geniculate nucleus" - "type II NK T cell" "vascular leaf" + "type II NK T cell" "obsolete_familial abdominal aortic aneurysm" "histone-lysine N-methyltransferase SETD2" "DEOC-1" - "ELR" "obsolete_myopathy due to calsequestrin and SERCA1 protein overload" + "ELR" "2-phosphoxylose phosphatase 1 measurement" "level of zinc finger protein 175 in blood serum" "Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis" @@ -35628,13 +35628,13 @@ "Qazi Markouizos syndrome" "Classical phenylketonuria" "congenital sucrase-isomaltase deficiency with starch intolerance" - "gamma-glutamylglutamate measurement" "GM17128" + "gamma-glutamylglutamate measurement" "Non-familial restrictive cardiomyopathy" "phosphatidylcholine acyl-alkyl C38:5 measurement" - "N-acetyl-cadaverine measurement" "bile acid measurement" "ornithine decarboxylase" + "N-acetyl-cadaverine measurement" "neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment" "SW780" "level of gremlin-2 in blood serum" @@ -35650,26 +35650,26 @@ "level of synaptotagmin-6 in blood serum" "scopolamine" "Thymic Small Cell Carcinoma" + "X-24972 measurement" "level of coiled-coil domain-containing protein 9 in blood serum" "general vesicular transport factor p115" "Apis mellifera mellifera" - "X-24972 measurement" "Personality disorder" "cytochrome c oxidase subunit 5B, mitochondrial" "level of carcinoembryonic antigen-related cell adhesion molecule 7 in blood serum" "heritable pulmonary arterial hypertension" "oligodendroglioma" "GM17224" - "obsolete autosomal uniparental disomy" "intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome" + "obsolete autosomal uniparental disomy" "G-292"@en "caudate volume change measurement"@en "UPF0258 protein KIAA1024 measurement" "microphthalmia, isolated, with coloboma" "epididymal-specific lipocalin-8 measurement" "intellectual developmental disorder with paroxysmal dyskinesia or seizures" - "digit" "obsolete_kidney (Rattus norvegicus)" + "digit" "obsolete_familial scaphocephaly syndrome" "level of midline-2 in blood serum" "level of carboxypeptidase A4 in blood serum" @@ -35687,9 +35687,9 @@ "hematopoietic progenitor cell antigen CD34 measurement" "septopreoptic holoprosencephaly" "SUM185PE" + "homogentisate measurement" "ancylostomiasis" "level of protein FAM3A in blood serum" - "homogentisate measurement" "rRNA methyltransferase 2, mitochondrial" "blue cone monochromacy" "diabetes, deafness, developmental delay, and short stature syndrome" @@ -35773,8 +35773,8 @@ "amyloid beta A4 precursor protein-binding family B member 1 measurement" "inositol-trisphosphate 3-kinase C" "acute lymphoblastic leukemia" - "erythrasma" "Vomiting" + "erythrasma" "galectin-8 measurement" "GM17292" "acetic acid" @@ -35814,8 +35814,8 @@ "dual specificity protein phosphatase 6 measurement" "obsolete_null syndrome" "alpha-1-antichymotrypsin complex measurement" - "level of protein kinase C and casein kinase substrate in neurons protein 3 in blood serum" "OCI-AML2" + "level of protein kinase C and casein kinase substrate in neurons protein 3 in blood serum" "obsolete_spondyloepimetaphyseal dysplasia, Irapa type" "treatment" "X-linked thrombocytopenia with normal platelets" @@ -35868,9 +35868,9 @@ "Hypoplastic scapulae" "level of zymogen granule membrane protein 16 in blood serum" "Impaired visuospatial constructive cognition" + "endometrial carcinoma" "Loeys-Dietz syndrome 6" "G4-seq" - "endometrial carcinoma" "Severe combined immunodeficiency" "WW domain binding protein 1-like measurement" "level of glycogenin-2 in blood serum" @@ -35996,8 +35996,8 @@ "Vicia narbonensis" "mucosa-associated lymphoid tissue macrophage" "obsolete_acheiria, bilateral" - "hyperphalangy, unilateral" "obsolete_mitochondrial protein import disorder" + "hyperphalangy, unilateral" "synaptotagmin-6" "tetrasomy" "catalase measurement" @@ -36018,9 +36018,9 @@ "bordetellosis" "DnaJ homolog subfamily C member 10 measurement" "protein phosphatase 1B" + "X-12230 measurement" "MDAMB415" "autosomal recessive ataxia, Beauce type" - "X-12230 measurement" "transcription profiling by high throughput sequencing" "arthritis, sacroiliac" "breast carcinoma" @@ -36057,9 +36057,9 @@ "Salmonella enterica subsp. indica" "icos ligand measurement" "psoriatic arthritis, susceptibility to" + "level of immunoglobulin superfamily DCC subclass member 4 in blood serum" "Dyggve-Melchior-Clausen disease" "arginyl-tRNA--protein transferase 1" - "level of immunoglobulin superfamily DCC subclass member 4 in blood serum" "leiomodin-1 measurement" "obsolete_obesity due to CEP19 deficiency" "legionella seropositivity" @@ -36080,14 +36080,14 @@ "language measurement" "microglial cell" "bladder calculus" - "MM200" "Schimke immuno-osseous dysplasia" + "MM200" "EpiRADSeq" "level of histone-lysine N-methyltransferase EZH2 in blood serum" "inositol monophosphatase 3 measurement" - "blood tin measurement"@en "ectonucleoside triphosphate diphosphohydrolase 3 measurement" "level of spermatogenesis-associated protein 22 in blood serum" + "blood tin measurement"@en "obsolete hyperlipoproteinemia type IV" "obsolete_bone MMHCC" "forelimb" @@ -36251,8 +36251,8 @@ "sample barcode offset" "diltiazem" "obsolete_autosomal dominant proximal renal tubular acidosis" - "Rho-related GTP-binding protein RhoE" "acesulfame measurement" + "Rho-related GTP-binding protein RhoE" "CD4-positive type I NK T cell" "level of nuclear factor of activated T-cells, cytoplasmic 1 in blood serum" "protein S measurement" @@ -36327,8 +36327,8 @@ "chromosome 17p13.3 duplication syndrome" "beta-1,4-glucuronyltransferase 1 measurement" "BMP receptor type-1B" - "obsolete_colorectal tumor" "ST Elevation Myocardial Infarction" + "obsolete_colorectal tumor" "annular epidermolytic ichthyosis" "autosomal dominant nonsyndromic hearing loss 2A" "gingival overgrowth" @@ -36365,17 +36365,17 @@ "obsolete_Primary familial polycythemia" "neuropilin-1 measurement" "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3" - "obsolete_GM1 gangliosidosis type 1" "level of glycine N-acyltransferase-like protein 2 in blood serum" + "obsolete_GM1 gangliosidosis type 1" "hypomagnesemia, seizures, and intellectual disability" "congenital sucrase-isomaltase deficiency with minimal starch tolerance" "HOS" "dyschromatosis universalis hereditaria" "protein JTB" "diacylglycerol 30:1 measurement" + "cholesteryl esters to total lipids in medium HDL percentage " "SW837" "Ralstonia pickettii" - "cholesteryl esters to total lipids in medium HDL percentage " "microphthalmia with limb anomalies" "immunodeficiency-related disorder" "level of glyoxylate reductase/hydroxypyruvate reductase in blood serum" @@ -36383,9 +36383,9 @@ "Orofaciodigital syndrome type 11" "Monosiga brevicollis" "neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies" + "obsolete_Rieger anomaly" "MN1" "atransferrinemia" - "obsolete_Rieger anomaly" "6-hydroxyindole sulfate measurement" "obsolete_apert syndrome" "level of CCAAT/enhancer-binding protein alpha in blood serum" @@ -36430,14 +36430,14 @@ "Deafness - intellectual disability, Martin-Probst type" "phosphatidylcholine O-40:6" "Lactococcus lactis subsp. cremoris" - "obsolete_X-linked intellectual disability with isolated growth hormone deficiency" "obsolete_generalized isolated dystonia" "Bohring-Opitz syndrome" + "obsolete_X-linked intellectual disability with isolated growth hormone deficiency" "response to calcineurin inhibitor" "semaphorin-3B" + "obsolete_12q14 microdeletion syndrome" "scyllo-inositol measurement" "Cerebellar vermis atrophy" - "obsolete_12q14 microdeletion syndrome" "syndromic X-linked intellectual disability Shrimpton type" "vasa recta ascending limb" "obsolete_oculotrichoanal syndrome" @@ -36460,9 +36460,9 @@ "Charcot-Marie-Tooth disease type 2A2" "pneumoviridae seropositivity" "colorectal adenoma" - "gender identity disorder" "anal canal" "spondylocarpotarsal synostosis syndrome" + "gender identity disorder" "coronary atherosclerosis" "blastema" "Truncus arteriosus" @@ -36509,8 +36509,8 @@ "stem cell" "obsolete_centronuclear myopathy" "motor function measurement"@en - "postoperative ventricular dysfunction" "non-structural maintenance of chromosomes element 1" + "postoperative ventricular dysfunction" "GM17277" "superficial fascia" "syndromic X-linked intellectual disability 17" @@ -36550,10 +36550,10 @@ "obsolete_Chudley-McCullough syndrome" "cerebrospinal fluid volume measurement" "obsolete_autosomal recessive spastic paraplegia type 59" + "Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus" "uromodulin measurement"@en "obsolete other immunodeficiency syndrome with predominantly antibody defects" "femoral agenesis/hypoplasia, bilateral" - "Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus" "ectoderm" "functional gastric disease" "autosomal recessive limb-girdle muscular dystrophy type 2D" @@ -36635,11 +36635,11 @@ "programmed cell death protein 1 measurement" "regulation of gonadotropin secretion" "obsolete_CINCA syndrome" - "CD11b-positive, CD27-positive natural killer cell, mouse" "obsolete_8q22.1 microdeletion syndrome" + "chondroadherin measurement" + "CD11b-positive, CD27-positive natural killer cell, mouse" "L-Histidine to 3-Indolepropionic acid ratio" "hypothyroidism, congenital, nongoitrous" - "chondroadherin measurement" "level of UDP-glucose 6-dehydrogenase in blood serum" "Mycobacterium leprae" "selenoprotein S measurement" @@ -36673,13 +36673,13 @@ "array specific design" "glycine conjugate of C10H14O2 (1) measurement" "carpropamid measurement" - "developmental and epileptic encephalopathy, 14" "obsolete_slow muscle cell somite 14" + "developmental and epileptic encephalopathy, 14" "sorting nexin-1" "ravine syndrome" "focal segmental glomerulosclerosis 5" - "obsolete_short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia" "GM14679" + "obsolete_short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia" "fatty acid-binding protein, adipocyte measurement" "interleukin-17 (Mus musculus)" "LDLR chaperone MESD measurement" @@ -36688,8 +36688,8 @@ "Syndactyly type 2" "Hypertonia" "obsolete primary immunodeficiency due to a genetic defect in innate immunity" - "oligomycin" "obsolete_X-linked severe congenital neutropenia" + "oligomycin" "susceptibility to rubella infection measurement" "Loss of voice" "Partial deletion of the short arm of chromosome 18" @@ -36711,8 +36711,8 @@ "Brown-Sequard Syndrome" "HCC1482" "obsolete_X-linked mendelian susceptibility to mycobacterial diseases" - "vitreous hemorrhage" "tubulointerstitial kidney disease, autosomal dominant, 2" + "vitreous hemorrhage" "craniolenticulosutural dysplasia" "response to simvastatin" "CD71-negative, GlyA-positive orthochromatic erythroblast" @@ -36722,8 +36722,8 @@ "inborn disorder of neurotransmitter metabolism and transport" "haploid deletion library" "split hand-foot malformation" - "obsolete_desmin-related myopathy with Mallory body-like inclusions" "premature birth" + "obsolete_desmin-related myopathy with Mallory body-like inclusions" "hyperphalangy, bilateral" "head" "reflective stress response" @@ -36784,8 +36784,8 @@ "hemophagocytic syndrome" "purine nucleoside monophosphate metabolic process" "obsolete_epithelial recurrent erosion dystrophy" - "Rare hereditary systemic disease with peripheral neuropathy" "Single transverse palmar crease" + "Rare hereditary systemic disease with peripheral neuropathy" "channelopathy-associated congenital insensitivity to pain, autosomal recessive" "substance-induced psychosis" "MGR3" @@ -36890,8 +36890,8 @@ "carotene diol (3) measurement" "10 kDa heat shock protein, mitochondrial" "level of charged multivesicular body protein 3 in blood serum" - "X-12786 measurement" "progressive bulbar palsy" + "X-12786 measurement" "obsolete_Bartter syndrome with hypocalcemia" "protein metabolic process" "Small hand" @@ -36905,8 +36905,8 @@ "triacylglycerol 56:4" "atrial septal defect, sinus venosus type" "obsolete_Classic Bartter syndrome" - "Polydipsia" "level of copine-7 in blood serum" + "Polydipsia" "obsolete_genetic dementia" "level of neurexophilin-2 in blood serum" "Premature coronary artery atherosclerosis" @@ -36921,8 +36921,8 @@ "peptidyl-tRNA hydrolase 2, mitochondrial" "genotyping by high throughput sequencing" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2K" - "ML-DmBG3-c2" "exfoliation syndrome, susceptibility to" + "ML-DmBG3-c2" "methyl jasmonate measurement" "obsolete_liver" "filariasis" @@ -36941,9 +36941,9 @@ "oxysterol-binding protein-related protein 11 measurement" "Methicillin-Susceptible Staphylococcus Aureus Infection" "brain astrocytoma" + "Rare genetic parkinsonian disorder" "long COVID-19" "cyclic AMP-dependent transcription factor ATF-3" - "Rare genetic parkinsonian disorder" "type 1 diabetes mellitus 22" "Sulfolobus acidocaldarius" "disease course" @@ -36971,9 +36971,9 @@ "mitochondrial complex III deficiency nuclear type 1" "obsolete_phyllid" "proximal renal artery" - "glut1 deficiency syndrome 1, autosomal recessive" "thrombopoietin" "lymph node subcapsular sinus macrophage" + "glut1 deficiency syndrome 1, autosomal recessive" "heptachlor measurement"@en "intellectual developmental disorder, autosomal recessive 72" "polydactyly of a biphalangeal thumb, bilateral" @@ -36982,9 +36982,9 @@ "orofaciodigital syndrome IX" "3-Indolepropionic acid to N6-Acetyl-L-lysine ratio" "obsolete_postaxial polydactyly type B, bilateral" - "Mayer-Rokitansky-Küster-Hauser syndrome" "KMS-12-BM" "level of GDP-L-fucose synthetase in blood serum" + "Mayer-Rokitansky-Küster-Hauser syndrome" "Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis" "autosomal dominant limb-girdle muscular dystrophy type 1E (DES)" "level of ADP-ribosylation factor 1 in blood serum" @@ -37037,8 +37037,8 @@ "abdominal aortic artery calcification" "porphyria" "beta-defensin 107 measurement" - "obsolete_laminopathy type Decaudain-Vigouroux" "pediatric osteosarcoma" + "obsolete_laminopathy type Decaudain-Vigouroux" "methylmercuric dicyanamide measurement" "anti-Kaposi's sarcoma-associated herpesvirus antibody measurement"@en "obsolete_pelvic fin" @@ -37113,10 +37113,10 @@ "ovarian monodermal and highly specialized teratoma" "ribonucleoside-diphosphate reductase large subunit measurement" "Borderline Ovarian Mucinous Tumor" + "neurotrophin-4 measurement" "obsolete erythrokeratoderma variabilis progressiva" "tubulointerstitial nephritis antigen-like" "Uridine Diphosphate Glucose" - "neurotrophin-4 measurement" "hypomyelinating leukodystrophy 10" "myoepithelial cell" "spinocerebellar ataxia type 30" @@ -37147,9 +37147,9 @@ "1-oleoyl-GPI (18:1) measurement" "triacylglycerol 54:2 measurement"@en "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" + "Autosomal recessive spastic paraplegia type 48" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2Q" "liver fibrosarcoma" - "Autosomal recessive spastic paraplegia type 48" "level of DNA (cytosine-5)-methyltransferase 3-like in blood serum" "level of prostaglandin-H2 D-isomerase in blood serum" "fumarylacetoacetate hydrolase domain-containing protein 2A" @@ -37174,8 +37174,8 @@ "spinal muscular atrophy with respiratory distress type 2" "Decreased circulating vitamin B2 concentration" "immature alpha-beta T cell" - "Scapuloperoneal amyotrophy" "UPF0488 protein C8orf33 measurement" + "Scapuloperoneal amyotrophy" "1-myristoyl-2-linoleoyl-GPC (14:0/18:2) measurement" "profilin-4" "primary basilar invagination" @@ -37240,8 +37240,8 @@ "obsolete_myopathic intestinal pseudoobstruction" "Thyrotoxicosis" "Macrosomia - microphthalmia - cleft palate" - "obsolete_MEND syndrome" "HCC2911" + "obsolete_MEND syndrome" "triacylglycerol 54:4 measurement"@en "lupus nephritis" "YjeF N-terminal domain-containing protein 3" @@ -37309,15 +37309,15 @@ "obsolete_lung (Bos taurus)" "adenoid cystic carcinoma of the corpus uteri" "Amelo-cerebro-hypohidrotic syndrome" - "Leukoplakia, Hairy" "alveolus of lung" + "Leukoplakia, Hairy" "MQ887" "Miyoshi muscular dystrophy 3" - "Colorectal Diffuse Large B-Cell Lymphoma" "poly(U)-binding-splicing factor PUF60" - "teratogenicity" + "Colorectal Diffuse Large B-Cell Lymphoma" "UACC-62" "vulvar squamous neoplasm" + "teratogenicity" "mesomelic dwarfism, Nievergelt type" "calvarial doughnut lesions-bone fragility syndrome" "obsolete_patella aplasia/hypoplasia, unilateral" @@ -37435,9 +37435,9 @@ "level of probable E3 ubiquitin-protein ligase TRIML1 in blood serum" "obsolete_partial deletion of the long arm of chromosome 7" "Inherited congenital spastic tetraplegia" - "childhood adrenal gland pheochromocytoma" "obsolete_Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" "administrator" + "childhood adrenal gland pheochromocytoma" "fetal and adult testis-expressed transcript protein" "corticotropin" "level of adhesion G-protein coupled receptor D1 in blood serum" @@ -37670,9 +37670,9 @@ "stomach diverticulum" "1-(1-enyl-stearoyl)-2-docosahexaenoyl-GPC (P-18:0/22:6) measurement" "MDAMB436" + "congenital myasthenic syndromes with glycosylation defect" "6-pyruvoyl tetrahydrobiopterin synthase" "assay by molecule" - "congenital myasthenic syndromes with glycosylation defect" "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome" "obsolete_helicoid peripapillary chorioretinal degeneration" "Cowden syndrome 5" @@ -37684,8 +37684,8 @@ "level of E3 ubiquitin-protein ligase rififylin in blood serum" "thioredoxin domain-containing protein 3" "PLC/PRF/5" - "obsolete_autosomal dominant rhegmatogenous retinal detachment" "chemokine-like protein TAFA-3" + "obsolete_autosomal dominant rhegmatogenous retinal detachment" "homer protein homolog 3" "micropapillary urothelial carcinoma" "obsolete_autosomal recessive spastic paraplegia type 70" @@ -37709,10 +37709,10 @@ "level of E3 ubiquitin-protein ligase pellino homolog 1 in blood serum" "obsolete_Genetic dermis disorder" "X-21736 measurement" - "seasonal gut microbiome measurement" "large ribosomal subunit protein bL34m" "Coffin-Siris syndrome 12" "negative regulation of renal sodium excretion" + "seasonal gut microbiome measurement" "intellectual developmental disorder, autosomal recessive 74" "obsolete_Diamond-Blackfan anemia" "BolA-like protein 1" @@ -37791,8 +37791,8 @@ "neuron-specific protein family member 2 measurement" "benign ovarian sex cord-stromal tumor" "level of macrophage receptor MARCO in blood serum" - "obsolete_white blood cell" "level of coagulation factor VII in blood serum" + "obsolete_white blood cell" "obsolete_familial isolated arrhythmogenic ventricular dysplasia, biventricular form" "noise exposure measurement" "neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia" @@ -37851,8 +37851,8 @@ "chitin octamer" "megabladder, congenital" "Haim-Munk syndrome" - "obsolete_glycerol kinase deficiency, infantile form" "patatin-like phospholipase domain-containing protein 2" + "obsolete_glycerol kinase deficiency, infantile form" "diabetic angiopathy" "receptor-type tyrosine-protein phosphatase U measurement" "spermatogenic failure 8" @@ -37864,19 +37864,19 @@ "presumptive neural retina" "obsolete_3-methylglutaconic aciduria type 3" "obsolete_sinoatrial node dysfunction and deafness" + "obsolete_alpha-mannosidosis, adult form" "degree" "heparan-sulfate 6-O-sulfotransferase 3" "activated CD4-positive type I NK T cell" - "obsolete_alpha-mannosidosis, adult form" "ovarian lymphoma" "phospholipid measurement" "cyclin-dependent kinase 20" "obsolete_oculocerebral hypopigmentation syndrome, Cross type" - "v-set and immunoglobulin domain-containing protein 2 measurement" "synovium cancer" - "LCL1" + "v-set and immunoglobulin domain-containing protein 2 measurement" "gamma-soluble NSF attachment protein" "GM06993" + "LCL1" "taurocholate measurement"@en "immunodeficiency 14b, autosomal recessive" "level of biogenesis of lysosome-related organelles complex 1 subunit 1 in blood serum" @@ -37921,11 +37921,11 @@ "polypeptide N-acetylgalactosaminyltransferase 11 measurement" "17q11 microdeletion syndrome" "Cholecystitis, Acute" + "infectious colitis" "RT4-D6P2T" "non-alcoholic pancreatitis"@en - "infectious colitis" - "erythropoietic uroporphyria associated with myeloid malignancy" "HCC4011" + "erythropoietic uroporphyria associated with myeloid malignancy" "3-(indol-3-yl)lactate" "cysteine protease ATG4B" "Abnormal talus morphology" @@ -37969,9 +37969,9 @@ "cortisone" "retroperitoneal neoplasm" "crown root" + "panniculitis" "phosphatidylcholine diacyl C36:0 measurement" "level of betaine--homocysteine S-methyltransferase 2 in blood serum" - "panniculitis" "obsolete_Y chromosome number anomaly" "level of GDP-mannose 4,6 dehydratase in blood serum" "dyslexia-associated protein KIAA0319-like protein measurement" @@ -38037,13 +38037,13 @@ "PHAVER syndrome" "level of tryptophan 2,3-dioxygenase in blood serum" "X-linked cone-rod dystrophy 1" - "polypeptide N-acetylgalactosaminyltransferase 3 measurement" "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4" - "vascular cell adhesion molecule-1 measurement" + "polypeptide N-acetylgalactosaminyltransferase 3 measurement" "Euphorbia esula" "uterine leiomyosarcoma cell line" "Poor head control" "EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor" + "vascular cell adhesion molecule-1 measurement" "prolargin measurement" "trimethylamine measurement" "15q24 microdeletion syndrome" @@ -38056,11 +38056,11 @@ "chloride intracellular channel protein 3" "chronic rapidly progressive glomerulonephritis" "infectious posterior uveitis" + "Glycogen storage disease due to glucose-6-phosphatase deficiency type b" "NH4_C36:2 DAG_or_TAG_fragment measurement" "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" "level of centrosomal protein of 41 kDa in blood serum" "tropomyosin alpha-1 chain measurement" - "Glycogen storage disease due to glucose-6-phosphatase deficiency type b" "legionnaire disease, susceptibility to" "quinolinate(1-)" "obsolete_oculocutaneous albinism type 4" @@ -38238,8 +38238,9 @@ "level of perilipin-3 in blood serum" "postaxial polydactyly type B" "blood vanadium measurement"@en - "pancreatic adenocarcinoma" "obsolete_9p13 microdeletion syndrome" + "pancreatic adenocarcinoma" + "asthma symptoms measurement" "level of 39S ribosomal protein L52, mitochondrial in blood serum" "cerebellar pilocytic astrocytoma" "level of calcium-activated chloride channel regulator 2 in blood serum" @@ -38247,7 +38248,6 @@ "X-linked retinal dysplasia" "DNA shearing" "glutathione-specific gamma-glutamylcyclotransferase 2" - "asthma symptoms measurement" "GM17188" "bilirubin encephalopathy" "benign neoplasm of male breast" @@ -38311,9 +38311,9 @@ "cullin-9" "obsolete_normal" "zinc fingers and homeoboxes protein 2" + "necrobiosis lipoidica" "level of Bcl-2-like protein 10 in blood serum" "aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome" - "necrobiosis lipoidica" "J774.2 cell" "sporadic fetal brain disruption sequence" "obsolete_paternal 20q13.2q13.3 microdeletion syndrome" @@ -38326,10 +38326,10 @@ "SPARE" "obsolete_Schnyder corneal dystrophy" "obsolete_benign adult familial myoclonic epilepsy" - "lateral cord surface glial cell" "cholesterol to total lipids in very small VLDL percentage " - "Cernunnos-XLF deficiency" + "lateral cord surface glial cell" "ML-DmD16-c3" + "Cernunnos-XLF deficiency" "graft-versus-host disease, susceptibility to" "Vaginal mucosal ulceration" "mg(18:1/0:0/0:0) measurement" @@ -38504,8 +38504,8 @@ "infectious meningitis" "inflorescence development stage" "corm" - "pancreatic acinus" "obsolete_hereditary folate malabsorption" + "pancreatic acinus" "conduction system disorder" "leucine-rich repeat neuronal protein 1 measurement" "L-phenylalanine metabolic process" @@ -38530,21 +38530,21 @@ "microgram per day" "daidzein sulfate (2) measurement" "stamen" + "obsolete_pseudoaminopterin syndrome" "Phodopus sungorus" "response to immunochemotherapy" "platelet-type bleeding disorder 9" "BolA-like protein 2" "CUB and zona pellucida-like domain-containing protein 1 measurement" "GM06994" - "obsolete_pseudoaminopterin syndrome" "generalized epilepsy with febrile seizures plus, type 2" "Drosophila melanogaster" "post-operative delirium" "GTP-binding protein SAR1a" "obsolete_benign partial epilepsy of infancy with complex partial seizures" - "X-24804 measurement" "level of zinc finger protein 230 in blood serum" "level of biogenesis of lysosome-related organelles complex 1 subunit 2 in blood serum" + "X-24804 measurement" "level of Phosphatidylethanolamine (18:1_0:0) in blood serum" "Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes" "level of UPF0235 protein C15orf40 in blood serum" @@ -38557,8 +38557,8 @@ "obsolete_juvenile amyotrophic lateral sclerosis" "level of PDZ domain-containing protein 11 in blood serum" "enterocyte" - "obsolete_stomatal complex" "obsolete_Autosomal recessive nail dysplasia" + "obsolete_stomatal complex" "obsolete_carotid artery endothelium" "distal monosomy 9p" "mature CD8 single-positive thymocyte" @@ -38582,8 +38582,8 @@ "dimensionless unit" "C6 glioma cell" "renal overload-type gout"@en - "recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome" "acneiform dermatitis" + "recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome" "ulnar nerve lesion" "Aplasia/Hypoplasia of the corpus callosum" "obsolete_autosomal dominant hypocalcemia" @@ -38658,9 +38658,9 @@ "drug-induced liver injury" "ChIP-exo" "5-hydroxy-2-furoic acid measurement" + "mNET-seq" "urethral sphincter" "esophageal carcinoma" - "mNET-seq" "Joubert syndrome 18" "Salmonella enterica subsp. enterica serovar Oranienburg" "uncharacterized protein FAM241A" @@ -38673,9 +38673,9 @@ "haustorium" "putamen volume change measurement"@en "insulin-degrading enzyme measurement" + "Crouzon disease" "anti-social behavior" "inositol oxygenase" - "Crouzon disease" "megalencephaly-capillary malformation-polymicrogyria syndrome" "X-linked myopathy with excessive autophagy" "cardiomyopathy, familial hypertrophic, 4, susceptibility to" @@ -38778,9 +38778,9 @@ "level of translin in blood serum" "tropomyosin beta chain measurement" "level of Ras-related protein Rab-2A in blood serum" - "Common Hematopoietic Neoplasm" "Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1" "retinal melanoma" + "Common Hematopoietic Neoplasm" "BCKN-1" "phosphatidylcholine diacyl C36:3 measurement" "hereditary epidermal appendage anomaly" @@ -38810,9 +38810,9 @@ "16S metagenomic sequencing" "1-palmityl-GPC (O-16:0) measurement" "oxysterol-binding protein-related protein 9" - "triacylglycerol 54:6 measurement"@en "PC4 and SFRS1-interacting protein" "obsolete_pericardial fat" + "triacylglycerol 54:6 measurement"@en "renin–angiotensin–aldosterone system measurement" "carotid artery segment" "level of cancer/testis antigen 1 in blood serum" @@ -38886,12 +38886,12 @@ "protein MTSS 2" "obsolete_dorsal fin musculature" "16-hydroxypalmitate measurement" + "FVB/N"@en "Disturbed sensory perception" "CD69-positive double-positive thymocyte" - "FVB/N"@en "3-Indolepropionic acid to LysoPC 16:0 ratio" - "myotonic dystrophy type 2" "limb-girdle muscular dystrophy due to POMK deficiency" + "myotonic dystrophy type 2" "level of UDP-glucuronosyltransferase 1-6 in blood serum" "3-Indolepropionic acid to D-2-Aminobutyric acid ratio" "protein-glutamine gamma-glutamyltransferase 4" @@ -39018,8 +39018,8 @@ "Hermansky-Pudlak syndrome 8" "obsolete_congenital absence of both forearm and hand, bilateral" "obsolete_transient tyrosinemia of the newborn" - "RIDDLE syndrome" "vitamin B deficiency" + "RIDDLE syndrome" "Stomach Volvulus" "MDAMB468" "assay by mass spectrometry" @@ -39051,12 +39051,12 @@ "language disorder" "partial duplication of the short arm of chromosome 8" "GM25256" + "Rare male infertility due to testicular endocrine disorder" "immunoglobulin E measurement" "Mus musculus musculus x M. m. domesticus" - "Rare male infertility due to testicular endocrine disorder" + "obsolete_dysplasia epiphysealis hemimelica" "Methylmalonic acid measurement" "endolymphatic sac" - "obsolete_dysplasia epiphysealis hemimelica" "congenital dyserythropoietic anemia type 2" "level of 60S ribosomal protein L11 in blood serum" "protein C14orf166" @@ -39080,8 +39080,8 @@ "JURKAT E-6.1 cell" "annexin A10" "abdominal fat cell number"@en - "lysophosphatidylethanolamine 22:6 measurement"@en "spleen" + "lysophosphatidylethanolamine 22:6 measurement"@en "obsolete AP4-related intellectual disability and spastic paraplegia" "ganglioside-induced differentiation-associated protein 1-like 1" "diencephalic astrocytomas" @@ -39170,8 +39170,8 @@ "obsolete_distal monosomy 14q" "SLP adapter and CSK-interacting membrane protein" "level of hepatocyte nuclear factor 4-alpha in blood serum" - "Hemoglobin G Coushatta to Total Hemoglobin Ratio Measurement" "obsolete_Saethre-Chotzen syndrome" + "Hemoglobin G Coushatta to Total Hemoglobin Ratio Measurement" "Persea americana" "anti-anoctamin 2 antibody measurement" "BOSC-23 cell" @@ -39244,11 +39244,11 @@ "5alpha-androstan-3beta,17beta-diol monosulfate (1) measurement" "ovarian epithelial tumor" "radial neuropathy" - "X-linked spastic paraplegia type 34" "Oculoauricular syndrome, Schorderet type" + "X-linked spastic paraplegia type 34" "atopic march" - "musical aptitude" "BolA-like protein 3" + "musical aptitude" "Abnormal hair pattern" "post-operative acute kidney injury" "intellectual developmental disorder, autosomal dominant 65" @@ -39328,8 +39328,8 @@ "response to dolutegravir" "LbetaT2" "congenital primary aphakia" - "stromal corneal pigmentation" "phosphatidylcholine diacyl C42:6 measurement" + "stromal corneal pigmentation" "D-penicillamine" "level of single Ig IL-1-related receptor in blood serum" "pancreas" @@ -39396,11 +39396,11 @@ "Neurospora crassa" "CB4858" "diaphragmatic eventration" - "Chia-PET" "level of peptidyl-prolyl cis-trans isomerase FKBP5 in blood serum" "transcriptional activator protein Pur-alpha" - "amyloid beta precursor like protein 2" "asbestos" + "amyloid beta precursor like protein 2" + "Chia-PET" "chromosome 2q32-q33 deletion syndrome" "Single umbilical artery" "glycodeoxycholate 3-sulfate measurement" @@ -39512,8 +39512,8 @@ "Waardenburg syndrome type 1" "skull base neoplasm" "adult central nervous system teratoma" - "ChIPmentation" "GM06990" + "ChIPmentation" "level of potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 in blood serum" "bronchus" "Duane retraction syndrome" @@ -39546,17 +39546,17 @@ "beta-1,4-galactosyltransferase 2" "3-hydroxyhippurate measurement" "microtubule-associated proteins 1A/1B light chain 3 beta 2" - "Spastic paraplegia-optic atrophy-neuropathy syndrome" "prostate and testis expressed protein 1 measurement" "filamin-A measurement" "Lupus Vasculitis, Central Nervous System" "intellectual disability, autosomal recessive 57" "delta-5 desaturase measurement" - "margarate 17:0 measurement" - "Digital RNA" + "Spastic paraplegia-optic atrophy-neuropathy syndrome" "oculocutaneous albinism type 8" "CD7-positive lymphoid progenitor cell" "Parkinson disease 24, autosomal dominant, susceptibility to" + "margarate 17:0 measurement" + "Digital RNA" "CD38-negative naive B cell" "receptor-type tyrosine-protein phosphatase H measurement" "omentin measurement"@en @@ -39597,8 +39597,8 @@ "jejunal neoplasm" "obsolete_sirenomelia" "obsolete_Autosomal dominant neovascular inflammatory vitreoretinopathy" - "endoglin measurement" "Jiyoye" + "endoglin measurement" "hypertrophic cardiomyopathy 13" "bile salt-activated lipase measurement" "apical ectodermal ridge pelvic fin bud" @@ -39617,8 +39617,8 @@ "level of netrin-G1 in blood serum" "ferritin, mitochondrial" "OV-2008" - "periodontal disorder" "brachydactyly-elbow wrist dysplasia syndrome" + "periodontal disorder" "Unclassified genetic skin disorder" "transmembrane protein 25" "melanoma, cutaneous malignant, susceptibility to, 3" @@ -39705,12 +39705,12 @@ "melphalan" "obsolete persistent combined dystonia" "annexin A11" - "obsolete_partial duplication of the long arm of chromosome 17" "Genetic renal tubular disease" "ascending colon cancer" "La Crosse virus" - "gap junction delta-2 protein measurement" + "obsolete_partial duplication of the long arm of chromosome 17" "melanoma staging" + "gap junction delta-2 protein measurement" "cytological, histological or immunological finding" "ubiquitin-conjugating enzyme E2 W" "Rett syndrome" @@ -39752,16 +39752,16 @@ "homeobox protein MOX-2" "mitochondrial ubiquitin ligase activator of NFKB 1 measurement" "obsolete_Arbisopsis thaliana" - "response to Par-4 dependent chemotherapy"@en "splenocyte" - "digestive system surgery"@en + "response to Par-4 dependent chemotherapy"@en "brachydactyly type B" "liver" + "digestive system surgery"@en "autosomal dominant omodysplasia" "papillary lung adenocarcinoma" + "fatty acid-binding protein; liver measurement" "level of NEDD8-activating enzyme E1 catalytic subunit in blood serum" "hereditary angioedema with C1Inh deficiency" - "fatty acid-binding protein; liver measurement" "Richter syndrome" "YCC16" "Increased red blood cell mass" @@ -40012,9 +40012,9 @@ "alpha-N-acetylgalactosaminidase deficiency type 2" "obsolete avascular necrosis of genetic origin" "sapropterin dihydrochloride" - "obsolete_combined oxidative phosphorylation defect type 13" "diastolic heart failure" "regulator of microtubule dynamics protein 3 measurement" + "obsolete_combined oxidative phosphorylation defect type 13" "malignant rhabdoid tumour" "taurodeoxycholic acid 3-sulfate measurement" "hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature" @@ -40108,8 +40108,8 @@ "obsolete_Autosomal recessive syndromic optic atrophy" "iron ion homeostasis" "obsolete_Robinow syndrome" - "gamma-aminobutyric acid receptor-associated protein-like 1" "hydrarthrosis" + "gamma-aminobutyric acid receptor-associated protein-like 1" "bone measurement" "Familial retinoblastoma" "tax1-binding protein 3 measurement" @@ -40179,13 +40179,13 @@ "level of microfibril-associated glycoprotein 3 in blood serum" "level of interleukin-17 receptor D in blood serum" "level of S-arrestin in blood serum" + "obsolete_lipoid proteinosis" "obsolete_hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome" "Autosomal recessive spastic paraplegia type 11" "transcription factor SOX-6" "hip osteoarthritis symptom severity measurement" "level of Rab-like protein 6 in blood serum" "ILSXISS#/Tej" - "obsolete_lipoid proteinosis" "PTB-Seq" "insulin-like growth factor-binding protein 1 measurement" "migraine with or without aura, susceptibility to" @@ -40216,8 +40216,8 @@ "obsolete_spondyloepiphyseal dysplasia congenita" "validation by real time PCR design" "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss" - "bromocriptine methanesulfonate" "3-Indolepropionic acid to Hippuric acid ratio" + "bromocriptine methanesulfonate" "obsolete intercalary limb defects" "ether lipid biosynthetic process" "congenital disorder of deglycosylation 2" @@ -40239,8 +40239,8 @@ "common dendritic progenitor" "myristate 14:0 measurement" "IgG-positive double negative memory B cell" - "Tay-Sachs disease, b variant, infantile form" "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3" + "Tay-Sachs disease, b variant, infantile form" "microphthalmia, isolated, with coloboma 7" "Isolated anophthalmia - microphthalmia" "cutaneous precancerous condition" @@ -40265,9 +40265,9 @@ "palmitoleate" "biomarker" "ring chromosome disorder" + "transcription regulator protein BACH2 measurement" "adenosine triphosphatase deficiency, anemia due to" "isolated thyroid-stimulating hormone deficiency" - "transcription regulator protein BACH2 measurement" "metastatic malignant neoplasm" "obsolete_microcephalic primordial dwarfism, Alazami type" "gonococcal prostatitis" @@ -40476,8 +40476,8 @@ "autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain" "hyperlipidemia" "Abnormal toenail morphology" - "obsolete_Caucasian" "response to nivolumab"@en + "obsolete_Caucasian" "Spinocerebellar ataxia type 42" "phenol sulfate measurement" "hyperargininemia" @@ -40532,8 +40532,8 @@ "level of syntaphilin in blood serum" "toxicity" "aphalangy-syndactyly-microcephaly syndrome" - "B-cell acute lymphoblastic leukemia" "shoulder fracture" + "B-cell acute lymphoblastic leukemia" "regulation of action potential" "obsolete_closed iniencephaly" "myeloproliferative disorder" @@ -40687,10 +40687,10 @@ "CHL1" "obsolete_Naxos disease" "Autosomal recessive axonal neuropathy with neuromyotonia" - "Systemic primary carnitine deficiency" "Invasive Breast Carcinoma" "obsolete_distal portion of circumflex branch of left coronary artery" "Sleep apnea" + "Systemic primary carnitine deficiency" "BXD"@en "X-11317 measurement" "combined immunodeficiency due to ZAP70 deficiency" @@ -40722,8 +40722,8 @@ "TTN-related myopathy" "bacterial endocarditis" "level of poly(A) RNA polymerase, mitochondrial in blood serum" - "obsolete_acheiria" "gamma-aminobutyric acid receptor-associated protein-like 2" + "obsolete_acheiria" "obsolete_Spondyloenchondrodysplasia" "obsolete_coxoauricular syndrome" "level of serine/arginine-rich splicing factor 6 in blood serum" @@ -40763,12 +40763,12 @@ "obsolete_X-linked recessive optic atrophy" "ATP-citrate synthase measurement" "4p16.3 microduplication syndrome" - "Unilateral renal hypoplasia" "obsolete_hypotonia with lactic acidemia and hyperammonemia" + "Unilateral renal hypoplasia" + "Thrombocytopenia - absent radius" "level of small integral membrane protein 13 in blood serum" "medullary thyroid gland carcinoma" "GM17251" - "Thrombocytopenia - absent radius" "tenascin-X measurement" "5C" "1-methylhistamine measurement" @@ -40790,8 +40790,8 @@ "obsolete_ulnar hemimelia" "GM14504" "transcription profiling by NanoString" - "obsolete_mitochondrial DNA depletion syndrome, encephalomyopathic form" "Copenhagen" + "obsolete_mitochondrial DNA depletion syndrome, encephalomyopathic form" "antipsychotic drug related weight gain" "triacylglycerol 54:9 measurement"@en "level of interleukin-17 receptor E in blood serum" @@ -40824,14 +40824,14 @@ "cholesteryl esters to total lipids in very large HDL percentage " "level of 39S ribosomal protein L10, mitochondrial in blood serum" "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome" - "obsolete_renal-hepatic-pancreatic dysplasia" "level of regulator of G-protein signaling 19 in blood serum" + "obsolete_renal-hepatic-pancreatic dysplasia" "GM1 gangliosidosis type 3" "sebaceous gland" "X-linked agammaglobulinemia" - "obsolete_Glycogen storage disease due to glycogen debranching enzyme deficiency" "obsolete_Lenz-Majewski hyperostotic dwarfism" "vacuolar protein sorting-associated protein 29 measurement" + "obsolete_Glycogen storage disease due to glycogen debranching enzyme deficiency" "DND-41" "infantile Krabbe disease" "hepatocyte nuclear factor 4-alpha" @@ -40890,8 +40890,8 @@ "obsolete_heart conduction system" "Pachycladon novaezelandiae" "obsolete cellular nitrogen compound biosynthetic process" - "renal colic" "Genetic renal or urinary tract malformation" + "renal colic" "gum cancer" "apoptotic amnioserosa" "hyperinsulinemic hypoglycemia, familial, 4" @@ -40903,8 +40903,8 @@ "C syndrome" "level of serpin A12 in blood serum" "immunoglobulin heavy constant alpha 2" - "autonomic dysreflexia" "SMiLE-seq" + "autonomic dysreflexia" "proton-coupled zinc antiporter SLC30A5" "level of ER membrane protein complex subunit 4 in blood serum" "GM17257" @@ -40931,8 +40931,8 @@ "phenol" "Dyspnea" "striatonigral degeneration, childhood-onset" - "C34:2 phosphatidylethanolamine measurement" "Angiokeratoma corporis diffusum" + "C34:2 phosphatidylethanolamine measurement" "meningoencephalocele" "NEDD4-like E3 ubiquitin-protein ligase WWP2" "autosomal dominant medullary cystic kidney disease with or without hyperuricemia" @@ -40993,8 +40993,8 @@ "Gastric Choriocarcinoma" "X-21383 measurement" "vagina leiomyosarcoma" - "HBL100" "level of beta-defensin 103 in blood serum" + "HBL100" "obsolete_tooth ankylosis" "obsolete_ring chromosome 3" "GM10847" @@ -41061,8 +41061,8 @@ "level of calcium-binding protein 39 in blood serum" "Carney complex, type 1" "familial long QT syndrome" - "eye swelling" "ocular albinism with late-onset sensorineural deafness" + "eye swelling" "streptococcal pneumonia" "response to beta blocker" "rheumatic pulmonary valve disease" @@ -41151,8 +41151,8 @@ "BMP-binding endothelial regulator protein measurement" "Childhood onset" "obsolete autosomal recessive lymphoproliferative disease" - "epidermolysis bullosa simplex" "nicotinamide measurement" + "epidermolysis bullosa simplex" "EC 3.1.1.8 (cholinesterase) inhibitor" "immune system" "N-acylethanolamine measurement" @@ -41171,9 +41171,9 @@ "Eyebrow/eyelashes distichiasis" "vitamin D-dependent rickets, type 1" "ragulator complex protein LAMTOR2" + "obsolete_heart-hand syndrome type 3" "AIDS" "osteoarthritis biomarker measurement" - "obsolete_heart-hand syndrome type 3" "level of disintegrin and metalloproteinase domain-containing protein 32 in blood serum" "chondroitin sulfate N-acetylgalactosaminyltransferase 2" "L1 syndrome" @@ -41309,9 +41309,9 @@ "maximal voluntary ventilation" "oral motor function measurement"@en "level of DCN1-like protein 2 in blood serum" - "obsolete_10q22.3q23.3 microdeletion syndrome" "polyp of vulva" "chronic tympanitis" + "obsolete_10q22.3q23.3 microdeletion syndrome" "uvea neoplasm" "46,XY disorder of sex development of gynecological interest" "Hemoglobin Tetramer Measurement" @@ -41389,8 +41389,8 @@ "calcipressin-2" "trichorhinophalangeal syndrome type II" "level of signal recognition particle 14 kDa protein in blood serum" - "Dilated cardiomyopathy with ataxia" "zona pellucida-binding protein 1" + "Dilated cardiomyopathy with ataxia" "level of tissue factor pathway inhibitor 2 in blood serum" "vitamin D receptor signaling pathway" "level of isocitrate dehydrogenase [NADP] cytoplasmic in blood serum" @@ -41408,8 +41408,8 @@ "obsolete_X-linked non progressive cerebellar ataxia" "vital capacity" "pineal parenchymal cell neoplasm" - "eating behaviour" "RILP-like protein 1" + "eating behaviour" "Ran-binding protein 3" "developing neuroepithelium" "bacterial vaginosis" @@ -41458,8 +41458,8 @@ "decreased anxiety-related response" "level of G-protein coupled receptor 135 in blood serum" "neutrophil cytosol factor 2 measurement" - "Mitochondrial inheritance" "level of PRA1 family protein 3 in blood serum" + "Mitochondrial inheritance" "level of Phosphatidylethanolamine (O-18:1_18:2) in blood serum" "high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor" "Pachycladon" @@ -41467,8 +41467,8 @@ "phenyl hydrogen sulfate" "testosterone" "congenital pulmonary lymphangiectasia" - "Dental malocclusion" "papillary cystadenoma" + "Dental malocclusion" "single Ig IL-1-related receptor" "non-renal secondary hyperparathyroidism" "(1->3)-beta-D-glucan" @@ -41542,8 +41542,8 @@ "optic nerve glioblastoma" "obsolete_Miyoshi myopathy" "level of polypeptide N-acetylgalactosaminyltransferase 2 in blood serum" - "obsolete_retinohepatoendocrinologic syndrome" "obsolete_congenital pseudoarthrosis of the femur" + "obsolete_retinohepatoendocrinologic syndrome" "Phenylpyruvic acid measurement" "specific phobia" "cataract-hypertrichosis-intellectual disability syndrome" @@ -41614,15 +41614,15 @@ "1-stearoyl-2-oleoyl-GPS (18:0/18:1) measurement" "C34:2 phosphatidylethanolamine plasmalogen measurement" "5-dodecenoylcarnitine (C12:1) measurement" - "triacylglycerol 56:10 measurement"@en "Wistar-Kyoto" + "triacylglycerol 56:10 measurement"@en "serum non-albumin protein measurement" "autosomal dominant nonsyndromic hearing loss 17" "cerebellin-1" "chymotrypsin-C" "C38:3 phosphatidylserine plasmalogen measurement" - "glycine encephalopathy" "Abnormality of coagulation" + "glycine encephalopathy" "oleoyl-linoleoyl-glycerol (18:1/18:2) [1] measurement" "has extra parts of type" "level of cytosolic Fe-S cluster assembly factor NUBP1 in blood serum" @@ -41638,12 +41638,12 @@ "PS(O-20:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z))" "level of orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 in blood serum" "array data file" - "regulator of G-protein signaling 19 measurement" - "Circle-Seq" "adult central nervous system immature teratoma" - "phenylalanine measurement" + "regulator of G-protein signaling 19 measurement" "GM12892" "mesophyll cell" + "Circle-Seq" + "phenylalanine measurement" "mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" "respiratory bronchiole" "xeroderma pigmentosum group A" @@ -41750,8 +41750,8 @@ "anauxetic dysplasia 3" "stromal cell of lamina propria of large intestine" "survival of motor neuron-related-splicing factor 30" - "bombesin receptor-activated protein C6orf89 measurement" "KG1" + "bombesin receptor-activated protein C6orf89 measurement" "body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency" "coronary artery bypass" "paraplegia" @@ -41814,9 +41814,9 @@ "MAGUK p55 subfamily member 7" "transmembrane protein 132D measurement" "obsolete idiopathic and/or familial pulmonary arterial hypertension" + "15q11.2 microdeletion syndrome" "level of tryptophan--tRNA ligase, mitochondrial in blood serum" "carotid artery occlusion" - "15q11.2 microdeletion syndrome" "U3118MG" "tooth disease" "obsolete rare female infertility due to adrenal disorder of genetic origin" @@ -41830,8 +41830,8 @@ "level of osteocrin in blood serum" "lymphoproliferative syndrome" "blindness (disorder)" - "Ovarian Embryonal Carcinoma" "pituitary tumor" + "Ovarian Embryonal Carcinoma" "ureter urothelial carcinoma" "Cholestasis-lymphedema syndrome" "obsolete_partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome" @@ -41876,9 +41876,9 @@ "hypoxemia" "microcephaly-brain defect-spasticity-hypernatremia syndrome" "definitive endoderm" - "nose injury" "neoplasm of mature B-cells" "obsolete_liver (Rattus norvegicus)" + "nose injury" "brachydactyly-arterial hypertension syndrome" "sphingomyeline C26:0 measurement" "ring chromosome 1" @@ -41898,9 +41898,9 @@ "retinoic acid receptor RXR-alpha" "level of transcription factor ATOH1 in blood serum" "aspirin hydrolysis measurement" + "obsolete_frontometaphyseal dysplasia" "3 prime tag" "level of methenyltetrahydrofolate synthase domain-containing protein in blood serum" - "obsolete_frontometaphyseal dysplasia" "N,N-Dimethylglycine measurement" "spiral organ of cochlea" "neuralgic amyotrophy" @@ -41920,8 +41920,8 @@ "Multiple non-ossifying fibromatosis" "obsolete_alopecia antibody deficiency" "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies" - "tricuspid valve prolapse" "methylmalonyl-CoA epimerase, mitochondrial measurement" + "tricuspid valve prolapse" "acrodysostosis 2 with or without hormone resistance" "neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade" "nucleoside biosynthetic process" @@ -41944,9 +41944,9 @@ "tooth 5V" "obsolete_partial deletion of the long arm of chromosome 21" "mature neutrophil" - "obsolete_hereditary thrombophilia due to congenital protein C deficiency" "familial hyperprolactinemia" "Ambystoma mexicanum" + "obsolete_hereditary thrombophilia due to congenital protein C deficiency" "obsolete_clinical information" "inactive phospholipase D5 measurement" "obsolete_spondyloepiphyseal dysplasia, Kimberley type" @@ -41981,8 +41981,8 @@ "Methemoglobin to Total Hemoglobin Ratio Measurement" "asparaginase hypersensitivity" "nasal brush" - "DNA extraction protocol"@en "large ribosomal subunit protein eL38" + "DNA extraction protocol"@en "leucylleucine measurement" "PSAT deficiency" "test result" @@ -42007,9 +42007,9 @@ "2-palmitoleoylglycerol (16:1) measurement" "obsolete_distal renal tubular acidosis" "Chiari malformation type II" + "Ehlers-Danlos syndrome type 1" "ONS-76"@en "pupa" - "Ehlers-Danlos syndrome type 1" "acute myeloid leukemia, t(16;16)(p13.1;q22)" "ATAC-seq" "obsolete_fibrodysplasia ossificans progressiva" @@ -42021,8 +42021,8 @@ "olmesartan" "harderoporphyria" "atrophic macular degeneration" - "esophagus squamous cell papilloma" "age of onset of major depressive disorder" + "esophagus squamous cell papilloma" "level of alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C in blood serum" "level of interleukin-27 receptor subunit alpha in blood serum" "mosaic variegated aneuploidy syndrome" @@ -42103,10 +42103,10 @@ "zona pellucida-binding protein 2" "hearing loss, noise-induced, susceptibility to" "initial pursuit acceleration" - "zinc finger protein 334" "WNT1-inducible-signaling pathway protein 3 measurement" - "beta-nerve growth factor measurement" + "zinc finger protein 334" "level of casein kinase I isoform gamma-2 in blood serum" + "beta-nerve growth factor measurement" "low affinity immunoglobulin gamma Fc region receptor II-a/b measurement" "transcriptional enhancer factor TEF-3" "ZF4" @@ -42202,11 +42202,11 @@ "carotid artery dissection" "obsolete_Revesz syndrome" "level of histone-lysine N-methyltransferase ASH1L in blood serum" - "obsolete_KBG syndrome" "tyrosine kinase inhibitor" "Pipecolinic acid measurement" - "obsolete_non-syndromic gastroduodenal malformation" + "obsolete_KBG syndrome" "integrin beta-2" + "obsolete_non-syndromic gastroduodenal malformation" "Spinal cord injury" "myofibrillar myopathy, dominant"@en "Nezelof syndrome" @@ -42306,13 +42306,13 @@ "level of homer protein homolog 3 in blood serum" "8505C" "benign synovial neoplasm" - "immunodeficiency 106, susceptibility to viral infections" - "Gasterosteus aculeatus" "Antisynthetase syndrome" "2-butenoylglycine measurement" + "immunodeficiency 106, susceptibility to viral infections" + "Gasterosteus aculeatus" + "triacylglycerol 56:2 measurement"@en "partial trisomy/tetrasomy of chromosome 18" "Syracuse High Avoidance" - "triacylglycerol 56:2 measurement"@en "brain serotonin transporter measurement" "penile sarcoma" "cerebellin-2" @@ -42338,9 +42338,9 @@ "hypotaurine measurement"@en "CXCL12 measurement" "phenothiazine antipsychotic drug" - "regulator of G-protein signaling 8 measurement" "bronchus carcinoma in situ" "GM18507" + "regulator of G-protein signaling 8 measurement" "level of beta-enolase in blood serum" "level of voltage-gated potassium channel subunit KCNA10 in blood serum" "hemorrhagic fever with renal syndrome" @@ -42560,11 +42560,11 @@ "10x sequencing protocol" "atmosphere unit" "Syndromic diarrhea" - "asymptomatic myeloma" "obsolete_Fraser syndrome" + "asymptomatic myeloma" + "Acromelic frontonasal dysplasia" "N6-Acetyl-L-lysine measurement" "rib" - "Acromelic frontonasal dysplasia" "Lassa fever" "BAFopathy" "spastic paraplegia-Paget disease of bone syndrome" @@ -42574,8 +42574,8 @@ "Keratocystic odontogenic tumor" "Acetabular dysplasia" "obsolete_oculodentodigital dysplasia" - "MICOS complex subunit MIC26 measurement" "trigeminal neuralgia" + "MICOS complex subunit MIC26 measurement" "lipid localization" "obsolete_11p15.4 microduplication syndrome" "obsolete_sterile multifocal osteomyelitis with periostitis and pustulosis" @@ -42623,9 +42623,9 @@ "polyp of rectum" "obsolete_phosphoenolpyruvate carboxykinase deficiency" "small intestine diverticulitis" - "vulvar eccrine adenocarcinoma" "DnaJ homolog subfamily C member 18 measurement" "bone morphogenetic protein 10 measurement" + "vulvar eccrine adenocarcinoma" "Oxyhemoglobin to Total Hemoglobin Ratio Measurement" "level of interleukin-28 receptor alpha chain in blood serum" "obsolete_avelline corneal dystrophy" @@ -42665,16 +42665,16 @@ "zinc finger protein 175" "arterial calcification, generalized, of infancy, 1" "MED-MEB-8A"@en - "obsolete_familial multiple fibrofolliculoma" "acute myeloid leukemia, t(15;17)(q24;q21)" - "obsolete_hemifacial hypertrophy" - "21-hydroxypregnenolone disulfate measurement" + "obsolete_familial multiple fibrofolliculoma" "level of U2 small nuclear ribonucleoprotein B'' in blood serum" + "obsolete_hemifacial hypertrophy" "sublingual gland" "intellectual disability, Wolff type" + "21-hydroxypregnenolone disulfate measurement" "sphinganine measurement" - "C57BL/10" "engulfment and cell motility protein 1 measurement" + "C57BL/10" "ADP-ribose glycohydrolase MACROD2" "pulmonary fibrosis" "Illumina NextSeq 2000" @@ -42698,16 +42698,16 @@ "ureteritis" "Syndromic X-linked intellectual disability due to JARID1C mutation" "pregnenetriol disulfate measurement" - "obsolete_Meacham syndrome" "obsolete_congenital shoulder dislocation" + "obsolete_Meacham syndrome" "dorsal anterior lateral line ganglion" "factor XI deficiency" "optic atrophy 2" "Visual field defect" "3 prime end bias" "xanthoma" - "all pairs" "3-methyl catechol sulfate (2) measurement" + "all pairs" "Abnormality of the sense of smell" "obsolete hereditary non-syndromic obesity" "Necrobiotic Xanthogranuloma" @@ -42916,17 +42916,17 @@ "left superior temporal gyrus grey matter volume measurement" "beta-defensin 104" "level of Rab11 family-interacting protein 3 in blood serum" - "hemopericardium" "developmental and epileptic encephalopathy, 41" "Steppage gait" + "hemopericardium" "dilated cardiomyopathy 1JJ" "obsolete_fatty liver" "flutamide" + "obsolete_colon neoplasm" "level of neuronal acetylcholine receptor subunit alpha-5 in blood serum" "congenital bile acid synthesis defect 1" - "obsolete_colon neoplasm" - "obsolete perlecan-related bone disorder" "level of nuclear transcription factor Y subunit alpha in blood serum" + "obsolete perlecan-related bone disorder" "desmoplastic medulloblastoma" "autosomal recessive titinopathy" "thyroid cancer, nonmedullary, 4" @@ -42947,10 +42947,10 @@ "obsolete_inherited arrhythmia" "obsolete_glycogen storage disease due to acid maltase deficiency, infantile onset" "obsolete_bilateral multicystic dysplastic kidney" + "Thrombocytopenia - Robin sequence" "GM17256" "congenital bile acid synthesis defect 5" "bone fracture related measurement" - "Thrombocytopenia - Robin sequence" "testican-3 measurement" "primary optic atrophy" "proenkephalin-B" @@ -42962,8 +42962,8 @@ "600MPE" "obsolete_isolated focal cortical dysplasia type Ia" "1,2-dipalmitoyl-GPC (16:0/16:0) measurement" - "gamma-glutamylleucine measurement" "integumental system" + "gamma-glutamylleucine measurement" "red color blindness" "(S)-azetidine-2-carboxylic acid" "Syracuse Low Avoidance" @@ -42971,8 +42971,8 @@ "UV light regimen" "inhibitor of nuclear factor kappa-B kinase subunit beta" "ankylosing spondylitis disease activity score"@en - "NCI-H1693" "sphingomyelin (d18:2/21:0, d16:2/23:0) measurement" + "NCI-H1693" "polyamine-modulated factor 1" "complement C1r subcomponent-like protein" "inhalation anaesthetic" @@ -43009,16 +43009,16 @@ "Autosomal recessive Charcot Marie Tooth disease type 2X" "partial duplication of chromosome 19" "21q22.13q22.2 microdeletion syndrome" - "glans penis cancer" "GTPase kras measurement" + "glans penis cancer" "level of interleukin-1 family member 9 in blood serum" "citrulline" "hematopoietic and lymphoid system neoplasm" "level of histone deacetylase complex subunit SAP30 in blood serum" "radiation quantity regimen" "familial patent arterial duct" - "Lens subluxation" "tiredness measurement" + "Lens subluxation" "obsolete_oculocerebrorenal syndrome" "level of VPS10 domain-containing receptor SorCS3 in blood serum" "Treponema denticola" @@ -43038,8 +43038,8 @@ "CXCL13 measurement" "level of 26S proteasome non-ATPase regulatory subunit 4 in blood serum" "Bl-0" - "level of ecto-NOX disulfide-thiol exchanger 2 in blood serum" "respiratory system cancer" + "level of ecto-NOX disulfide-thiol exchanger 2 in blood serum" "level of CD34 molecule in blood serum" "obsolete_AE experiment type flag" "dodecanedioate(2-)" @@ -43293,8 +43293,8 @@ "level of sodium channel subunit beta-2 in blood serum" "tooth eruption" "methionine-R-sulfoxide reductase B3, mitochondrial" - "insulin-like 3" "Abnormal sperm tail morphology" + "insulin-like 3" "Dysplasia in Ulcerative Colitis" "placental hematopoietic stem cell" "synucleinopathy" @@ -43310,25 +43310,25 @@ "childhood central nervous system germinoma" "Populus balsamifera" "ventral hyoid arch skeleton" + "DnaJ homolog subfamily C member 27 measurement" "isocitric acid" "spinocerebellar ataxia type 12" "vacuolar protein sorting-associated protein 4A" "level of interleukin-31 receptor A in blood serum" "level of methylated-DNA--protein-cysteine methyltransferase in blood serum" "atypical hypotonia-cystinuria syndrome" - "DnaJ homolog subfamily C member 27 measurement" "gap junction alpha-1 protein" "intellectual disability-hypotonia-skin hyperpigmentation syndrome" "Bacteroides" "vulvar leiomyosarcoma" "carbonic anhydrase-related protein" "level of DNA-binding protein SATB1 in blood serum" - "BPI fold-containing family A member 1 measurement" - "phosphatidylcholine acyl-alkyl C38:0 measurement" "Photophobia" "symplectic" + "phosphatidylcholine acyl-alkyl C38:0 measurement" "level of myocardial zonula adherens protein in blood serum" "NUGC-2" + "BPI fold-containing family A member 1 measurement" "maternal uniparental disomy of chromosome 14" "Charcot-Marie-Tooth disease X-linked recessive 5" "tyrosine-protein kinase RYK" @@ -43385,8 +43385,8 @@ "diaphragmatic defect-limb deficiency-skull defect syndrome" "obsolete_severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" "thyrocyte" - "ACTL6A-related BAFopathy" "array platform variation design" + "ACTL6A-related BAFopathy" "pancreatic agenesis 2" "4-methylcatechol sulfate measurement" "COLO357" @@ -43600,8 +43600,8 @@ "Rare female infertility due to an anomaly of ovarian function of genetic origin" "Nascent-Seq" "GBA carrier status" - "level of EF-hand calcium-binding domain-containing protein 4B in blood serum" "axial hypoblast" + "level of EF-hand calcium-binding domain-containing protein 4B in blood serum" "developmental and epileptic encephalopathy, 42" "carcinoembryonic antigen-related cell adhesion molecule 7" "microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome" @@ -43675,13 +43675,13 @@ "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" "level of interleukin-1 receptor accessory protein in blood serum" "response to secukinumab"@en - "level of prenylcysteine oxidase-like in blood serum" "sphingomyelin (d17:2/16:0, d18:2/15:0) measurement" + "level of prenylcysteine oxidase-like in blood serum" "NCI-H1734" "level of histone deacetylase complex subunit SAP30L in blood serum" "obsolete_8p11.2 deletion syndrome" - "obsolete_TCR-alpha-beta-positive T-cell deficiency" "X-12189 measurement" + "obsolete_TCR-alpha-beta-positive T-cell deficiency" "serum galactose-deficient IgA1 measurement" "poly(A) RNA polymerase, mitochondrial" "Gerbera hybrid cultivar" @@ -43723,8 +43723,8 @@ "level of polypeptide N-acetylgalactosaminyltransferase 9 in blood serum" "level of protein-arginine deiminase type-2 in blood serum" "level of protein FAM110A in blood serum" - "level of UPF0692 protein C19orf54 in blood serum" "S-(5-Adenosy)-L-homocysteine measurement" + "level of UPF0692 protein C19orf54 in blood serum" "necrosis of pituitary" "complicated appendicitis"@en "WD repeat-containing protein 18" @@ -43834,8 +43834,8 @@ "transient neonatal diabetes mellitus" "obsolete_multiple endocrine neoplasia type 1" "obsolete_combined pancreatic lipase-colipase deficiency" - "maxillary neoplasm" "ANE syndrome" + "maxillary neoplasm" "xeroderma pigmentosum group E" "integrin alpha-L" "N6-carbamoylthreonyladenosine measurement" @@ -43846,11 +43846,11 @@ "obsolete_hypopigmentation-punctate palmoplantar keratoderma syndrome" "tridihexethyl bromide measurement" "obsolete_Classic Mayer-Rokitansky-Küster-Hauser syndrome" - "Burkholderia Infections" "GH3 domain-containing protein" "benign eyelid neoplasm" - "2-hydroxyarachidate measurement" + "Burkholderia Infections" "somite 14" + "2-hydroxyarachidate measurement" "level of Phosphatidylcholine (18:1_0:0) in blood serum" "cerebellin-4" "obsolete_intellectual disability-strabismus syndrome" @@ -43882,10 +43882,10 @@ "Cerebellar vermis hypoplasia" "microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum" "serine/threonine-protein kinase ULK3 measurement" - "renal papilla" "N-formylphenylalanine measurement" - "methylnaphthyl sulfate (2) measurement" + "renal papilla" "obsolete_response to citalopram" + "methylnaphthyl sulfate (2) measurement" "level of aldehyde dehydrogenase, mitochondrial in blood serum" "autosomal dominant compelling helio-ophthalmic outburst syndrome" "central nervous system cancer" @@ -44036,11 +44036,11 @@ "tangential nucleus" "epidermolysis bullosa simplex superficialis" "Thick lower lip vermilion" - "obsolete_congenital elbow dislocation" "level of cysteine-rich secretory protein 2 in blood serum" + "obsolete_congenital elbow dislocation" "cardiac germ cell tumor" - "Microtia - eye coloboma - imperforation of the nasolacrimal duct" "nitrogen atom" + "Microtia - eye coloboma - imperforation of the nasolacrimal duct" "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis" "C-C motif chemokine 21 measurement" "level of thrombospondin type-1 domain-containing protein 1 in blood serum" @@ -44099,9 +44099,9 @@ "tumor necrosis factor receptor superfamily member 25 measurement" "cleft lip/palate-intestinal malrotation-cardiopathy syndrome" "salt treatment" + "R-6-hydroxywarfarin measurement" "hereditary intrinsic factor deficiency" "X inactivation, familial skewed" - "R-6-hydroxywarfarin measurement" "Salmonella enterica subsp. enterica serovar Typhi" "PBRM1-related BAFopathy" "phosphatidylcholine O-38:0" @@ -44141,9 +44141,9 @@ "N-acylethanolamine" "obsolete_high myopia-sensorineural deafness syndrome" "fractalkine measurement" - "lysophosphatidylserine measurement" "docosadienoate" "acute hypotension" + "lysophosphatidylserine measurement" "lactose tolerance test"@en "estradiol measurement" "obsolete_presumptive paraxial mesoderm" @@ -44320,8 +44320,8 @@ "obsolete brain calcification, Rajab type" "Ophthalmoplegia - intellectual disability - lingua scrotalis" "N-myc-interactor" - "GM15221" "protocadherin alpha-4" + "GM15221" "BRCA2 mutation carier statu" "PP interval" "Genetic pancreatic disease" @@ -44359,8 +44359,8 @@ "synaptotagmin-2" "Stroke" "5'(3')-deoxyribonucleotidase, cytosolic type measurement" - "adjustment disorder" "hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome" + "adjustment disorder" "obsolete_autosomal dominant Kenny-Caffey syndrome" "O-acetylhomoserine" "skeletal muscle of trunk" @@ -44500,10 +44500,10 @@ "rectal adenocarcinoma" "Numb-like protein" "integrin alpha-M" + "ankle injury" "prenatal-onset spinal muscular atrophy with congenital bone fractures" "obsolete_RCH-ACV" "level of bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 in blood serum" - "ankle injury" "Ocular Sebaceous Carcinoma" "galactonate measurement" "eukaryotic-type small ribosomal subunit protein uS7" @@ -44573,8 +44573,8 @@ "obsolete generalized pustular psoriasis" "insect clypeo-labral primordium" "corticotropin secretion" - "ATP synthase subunit O, mitochondrial" "N-acetyl-d-tryptophan measurement"@en + "ATP synthase subunit O, mitochondrial" "entorhinal cortex volume measurement"@en "Mycobacterium tuberculosis" "zygodactyly type 2" @@ -44584,8 +44584,8 @@ "level of hepatoma-derived growth factor in blood serum" "level of thioredoxin reductase 1, cytoplasmic in blood serum" "autosomal dominant nonsyndromic hearing loss 28" - "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures" "lumbosacral plexus lesion" + "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures" "pneumothorax" "cholesteryl ester 20:4 measurement"@en "succinate dehydrogenase assembly factor 4, mitochondrial" @@ -44723,13 +44723,13 @@ "level of protein LRATD2 in blood serum" "Helicobacter pylori infectious disease" "keratoacanthoma" - "nephritis" "tyrosine-protein kinase BLK" "pneumonia severity measurement" "focal epilepsy-intellectual disability-cerebro-cerebellar malformation" "Na(+)/H(+) exchange regulatory cofactor NHE-RF1" "Sphingomonas wittichii RW1" "erythrokeratoderma en cocardes" + "nephritis" "neuronopathy, distal hereditary motor, autosomal recessive 4" "collagen alpha-1(XX) chain" "apolipoprotein A-I deficiency" @@ -44738,10 +44738,10 @@ "escherichia phage virus seropositivity" "obsolete_90-8TL" "monokine induced by gamma interferon measurement" + "obsolete_patellar dysostosis" "Colorado tick fever" "level of coiled-coil domain-containing protein 126 in blood serum" "household air pollution measurement" - "obsolete_patellar dysostosis" "CD4-intermediate, CD8-positive double-positive thymocyte" "obsolete_limb bone" "cartilage-hair hypoplasia" @@ -44932,9 +44932,9 @@ "enucleated reticulocyte" "calcium atom" "L-Glutamine to 3-Indolepropionic acid ratio" + "mono [ADP-ribose] polymerase PARP16 measurement" "Mycobacterium bovis" "1,4-dichlorobenzene" - "mono [ADP-ribose] polymerase PARP16 measurement" "secretogranin-3 measurement" "LP.08 eight leaves visible stage" "level of annexin A7 in blood serum" @@ -45012,8 +45012,8 @@ "Panc89" "ubiquitin carboxyl-terminal hydrolase 30" "MS751" - "obsolete_Distal spinal muscular atrophy" "appendectomy" + "obsolete_Distal spinal muscular atrophy" "onchocerciasis" "beta-defensin 128" "steroid 21-monooxygenase activity" @@ -45038,8 +45038,8 @@ "radiation-induced plexopathy" "PAL-seq" "BAG family molecular chaperone regulator 4" - "O-methylcatechol sulfate measurement" "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement" + "O-methylcatechol sulfate measurement" "level of complement C1r subcomponent-like protein in blood serum" "selenium atom" "level of PH and SEC7 domain-containing protein 1 in blood serum" @@ -45071,18 +45071,18 @@ "Sarcosine measurement" "congenital enterovirus infection" "methemoglobinemia" + "obsolete_citrullinemia type I" "HCASMC-hTERT"@en "COLO668" "atypical juvenile parkinsonism" + "1-(1-enyl-stearoyl)-GPC (P-18:0) measurement" "luminal B breast carcinoma" - "obsolete_citrullinemia type I" + "2-Hydroxyisocaproic acid measurement" "high content analysis of cells by molecular content" "vestibulocochlear ganglion" - "1-(1-enyl-stearoyl)-GPC (P-18:0) measurement" - "2-Hydroxyisocaproic acid measurement" "PA-TU-8902" - "acrorenal syndrome" "ovarian Wilms tumor" + "acrorenal syndrome" "Iran" "chromosome Xq28 duplication syndrome" "dyslexia-associated protein KIAA0319-like protein" @@ -45111,8 +45111,8 @@ "melanotic neurilemmoma" "population based design" "Schnyder corneal dystrophy" - "Pseudoxanthoma elasticum" "8q24.3 microdeletion syndrome" + "Pseudoxanthoma elasticum" "level of serpin B4 in blood serum" "magnesium ion transport" "protein FAM19A5 measurement" @@ -45136,8 +45136,8 @@ "iCLIP" "KH domain-containing, RNA-binding, signal transduction-associated protein 2" "sessile serrated polyposis cancer syndrome" - "familial hypocalciuric hypercalcemia 2" "breasts and/or nipples, aplasia or hypoplasia of, 2" + "familial hypocalciuric hypercalcemia 2" "atypical kinase COQ8B, mitochondrial" "level of histone deacetylase 6 in blood serum" "CS57583" @@ -45244,8 +45244,8 @@ "semenogelin-1 measurement" "sphingosine kinase 1 measurement" "hexadecanedioate(2-)" - "obsolete_postaxial polydactyly type A, bilateral" "zinc transporter 5 measurement" + "obsolete_postaxial polydactyly type A, bilateral" "pneumococcal meningitis" "alliin" "arabitol measurement" @@ -45305,11 +45305,11 @@ "disturbances of sensation of smell and taste" "level of GRAM domain-containing protein 2B in blood serum" "capillary leak syndrome" + "eicosapentaenoylcholine measurement" "Abnormality of the pancreatic islet cells" "blind loop syndrome" - "eicosapentaenoylcholine measurement" - "level of methionine aminopeptidase 1D, mitochondrial in blood serum" "mucosa-associated lymphoid tissue" + "level of methionine aminopeptidase 1D, mitochondrial in blood serum" "level of nucleoplasmin-2 in blood serum" "atypical hemolytic-uremic syndrome with DGKE deficiency" "mating type F minus" @@ -45374,10 +45374,10 @@ "neurogenic locus notch homolog protein 3 measurement" "familial dysfibrinogenemia" "1-palmitoleoyl-2-linoleoyl-sn-glycero-3-phosphocholine" - "fourth ventricle volume measurement"@en "Trichophyton soudanense" "material supplier" "defensin alpha 5 (human)" + "fourth ventricle volume measurement"@en "perivascular space" "brain" "Capz-interacting protein" @@ -45419,8 +45419,8 @@ "level of polypeptide N-acetylgalactosaminyltransferase 16 in blood serum" "lipoprotein A measurement" "CD4-positive, CD8-intermediate double-positive thymocyte" - "platelet endothelial aggregation receptor 1 measurement" "T37i" + "platelet endothelial aggregation receptor 1 measurement" "level of histone-lysine N-methyltransferase SETMAR in blood serum" "Tay-Sachs disease" "Brisk reflexes" @@ -45474,9 +45474,9 @@ "eukaryotic translation initiation factor 2 subunit 1" "level of collagen alpha-1(VI) chain in blood serum" "thoracic aortic calcification measurement"@en - "anti-drug antibody measurement"@en "anaplastic astrocytoma" "Back pain" + "anti-drug antibody measurement"@en "level of protein SCO1, mitochondrial in blood serum" "syndromic X-linked intellectual disability 7" "Cyanothece" @@ -45491,8 +45491,8 @@ "OPA1-related optic atrophy with or without extraocular features" "trans fatty acid measurement" "obsolete_palmoplantar keratoderma, Nagashima type" - "obsolete_mild hyperphenylalaninemia" "obsolete_silver-Russell syndrome due to 7p11.2p13 microduplication" + "obsolete_mild hyperphenylalaninemia" "oculomucocutaneous syndrome"@en "ring chromosome 21" "glycoprotein metabolism disease" @@ -45504,12 +45504,12 @@ "neuroblast (sensu Vertebrata)" "level of histone H2A type 1-A in blood serum" "neurotic excoriation" + "bone morphogenetic protein receptor type-2 measurement" "acral lentiginous melanoma" "deubiquitinase MYSM1" - "bone morphogenetic protein receptor type-2 measurement" + "intracranial volume measurement" "neurodevelopmental disorder with severe motor impairment and absent language" "level of integrin-linked kinase-associated serine/threonine phosphatase 2C in blood serum" - "intracranial volume measurement" "X-linked intellectual disability, Schutz type" "small integral membrane protein 3" "ECV304 cell" @@ -45548,8 +45548,8 @@ "obsolete_Legius syndrome" "cardiac conduction defect" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2L" - "X-24307 measurement" "Lactobacillus acidophilus" + "X-24307 measurement" "obsolete_pectoral girdle" "Rab9 effector protein with Kelch motifs" "calcium-binding protein 39-like" @@ -45572,8 +45572,8 @@ "Otomandibular dysplasia associated with monogenic syndromes" "obsolete_Aarskog-Scott syndrome" "pancreatic lymphoma, familial" - "non-high density lipoprotein cholesterol measurement" "CUB and Sushi domain-containing protein 1 measurement" + "non-high density lipoprotein cholesterol measurement" "autosomal recessive spastic paraplegia type 67" "secretory phospholipase A2 receptor measurement" "5-hydroxymethyl-dUMP N-hydrolase" @@ -45659,8 +45659,8 @@ "obsolete_congenital primary megaureter, obstructed form" "level of dual specificity tyrosine-phosphorylation-regulated kinase 2 in blood serum" "iatrogenic disease" - "obsolete_interventricular septum" "Floor of Mouth Mucoepidermoid Carcinoma" + "obsolete_interventricular septum" "uterine ligament clear cell adenocarcinoma" "peroxisome biogenesis disorder due to PEX5 defect" "all-trans-retinol dehydrogenase [NAD(+)] ADH4" @@ -45751,9 +45751,9 @@ "required for drug-induced death protein 1" "Li-Campeau syndrome" "congenital stationary night blindness" - "ML-1 cell" "Abnormality of the diaphragm" "Arenaviridae infectious disease" + "ML-1 cell" "Succinic acid measurement" "environmental tobacco smoke exposure measurement" "immunodeficiency 49" @@ -45855,15 +45855,15 @@ "gp41 C34 peptide, HIV measurement" "amygdala reactivity measurement" "immunodeficiency 102" - "obsolete_nephronophthisis" "ampere" "level of complement C4-A in blood serum" + "obsolete_nephronophthisis" "TCR-alpha-beta-positive T-cell deficiency" "xeroderma pigmentosum group G" "level of gamma-secretase subunit PEN-2 in blood serum" "eukaryotic translation initiation factor 4 gamma 3 measurement" - "Hi-0" "syndromic lymphedema" + "Hi-0" "SAFB-like transcription modulator" "Ring chromosome" "impaired psychomotor skills"@en @@ -45948,8 +45948,8 @@ "retinal cell cancer" "hypothyroidism, congenital, nongoitrous, 5" "zinc/RING finger protein 4 measurement" - "N-acetylgalactosamine measurement" "Congenital muscular dystrophy type 1A" + "N-acetylgalactosamine measurement" "Visual agnosia" "synembryn-A" "familial porencephaly" @@ -46118,8 +46118,8 @@ "chorea" "desmoglein-1 measurement" "obsolete_free sialic acid storage disease, infantile form" - "undifferentiated carcinoma of esophagus" "Cardiac Tamponade" + "undifferentiated carcinoma of esophagus" "cystinosis" "1-linoleoyl-2-linolenoyl-GPC (18:2/18:3) measurement" "mating type h plus" @@ -46133,8 +46133,8 @@ "BC-1" "obsolete_functional neutrophil defect" "DDB1- and CUL4-associated factor 11" - "obsolete_vitreoretinal degeneration" "tetanus" + "obsolete_vitreoretinal degeneration" "Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism" "LCLC-97TM1" "acute thyroiditis" @@ -46157,8 +46157,8 @@ "obsolete_chronic diarrhea with villous atrophy" "precocious puberty" "Low back pain" - "Cyanothece sp. ATCC 51142" "level of protein SCO2, mitochondrial in blood serum" + "Cyanothece sp. ATCC 51142" "obsolete_FASTKD2-related infantile mitochondrial encephalomyopathy" "death from disease" "level of keratin, type II cytoskeletal 1 in blood serum" @@ -46170,8 +46170,8 @@ "cataract 8 multiple types" "GM17263" "trans-16:1n-7 fatty acid measurement" - "Marfanoid habitus - intellectual disability, autosomal recessive" "spinocerebellar ataxia type 28" + "Marfanoid habitus - intellectual disability, autosomal recessive" "non-allergic anaphylaxis"@en "NCI-H1770" "interleukin 1 receptor-like 1 measurement" @@ -46226,11 +46226,11 @@ "ACH-3P" "syntaxin-6" "obsolete_non-syndromic limb reduction defect" + "procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 measurement" "composite lymphoma" "Nephropathy" "level of endogenous retrovirus group V member 1 Env polyprotein in blood serum" "acquired aplastic anemia" - "procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 measurement" "probable RNA-binding protein 19" "obsolete_pelvic girdle" "GM15324" @@ -46248,10 +46248,10 @@ "ceramide" "hyalurononglucosaminidase activity" "response to cyclosporine" + "obsolete_Aase-Smith syndrome" "dysuria" "parathion measurement"@en "pulse wave reflection index measurement" - "obsolete_Aase-Smith syndrome" "level of Triacylglycerol (49:2) in blood serum" "urinary schistosomiasis" "level of uncharacterized protein C1orf198 in blood serum" @@ -46294,7 +46294,6 @@ "obsolete_humero-radio-ulnar synostosis, unilateral" "T-REx-HeLa" "obsolete_presumptive midbrain hindbrain boundary" - "5alpha-androstan-3alpha,17beta-diol monosulfate (1) measurement" "sudden infant death-dysgenesis of the testes syndrome" "pancreas sarcoma" "floor plate" @@ -46303,8 +46302,9 @@ "level of breast cancer metastasis-suppressor 1-like protein in blood serum" "age related macular degeneration 11" "transketolase deficiency" - "triacylglycerol 58:9 measurement"@en + "5alpha-androstan-3alpha,17beta-diol monosulfate (1) measurement" "intellectual developmental disorder, autosomal dominant 72" + "triacylglycerol 58:9 measurement"@en "dengue virus, susceptibility to" "thoracolumbosacral spina bifida cystica" "vanillate" @@ -46318,9 +46318,9 @@ "congenital nystagmus" "Oceanian" "obsolete_unilateral focal polymicrogyria" - "obsolete_Jalili syndrome" "brain protein 44-like protein" "mitochondrial myopathy-lactic acidosis-deafness syndrome" + "obsolete_Jalili syndrome" "cerebral amyloid angiopathy" "stomach carcinoma in situ" "atypical progressive supranuclear palsy syndrome" @@ -46390,12 +46390,12 @@ "level of tetratricopeptide repeat protein 9B in blood serum" "uric acid measurement" "meningeal sarcoma" - "potassium chromate measurement"@en "combined oxidative phosphorylation deficiency 46" "hereditary sensory and autonomic neuropathy with deafness and global delay" "substantia propria of cornea" "major vestibular gland" "radiologic finding" + "potassium chromate measurement"@en "pigment epithelium-derived factor measurement" "limbic lobe volume measurement"@en "radio-ulnar synostosis, unilateral" @@ -46414,8 +46414,8 @@ "spongiotic dermatitis" "obsolete_qualitative or quantitative defects of beta-myosin heavy chain (MYH7)" "Striae distensae" - "Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes" "indole-3-acetic acid" + "Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes" "level of RAB6-interacting golgin in blood serum" "lung neoplasm" "ERO1-like protein beta" @@ -46490,10 +46490,10 @@ "corneal endothelial cell measurement" "level of transmembrane protease serine 11A in blood serum" "obsolete_renal coloboma syndrome" - "10x 5' v1" "Cal-0" "protocadherin alpha-7" "apical" + "10x 5' v1" "GM17162" "palmitoyltransferase ZDHHC4" "tracheal dorsal trunk primordium" @@ -46526,8 +46526,8 @@ "obsolete_adult muscle precursor primordium" "methanol" "CD71-low, GlyA-positive polychromatic erythroblast" - "platelet-type bleeding disorder 19" "ATC Classification System" + "platelet-type bleeding disorder 19" "central nervous system melanocytic neoplasm" "Methanococcoides burtonii" "obsolete_endosperm" @@ -46546,8 +46546,8 @@ "acquired cold urticaria" "NCI-H1915" "benign neoplasm" - "obsolete_conjunctival tumor" "sphingolipid measurement" + "obsolete_conjunctival tumor" "[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial measurement" "isolated congenital digital clubbing" "obsolete short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" @@ -46558,8 +46558,8 @@ "non-functioning endocrine neoplasm" "granulins measurement" "narcolepsy without cataplexy" - "glucuronate" "viral labyrinthitis" + "glucuronate" "beta-defensin 110" "MAX gene-associated protein measurement" "dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome" @@ -46608,8 +46608,8 @@ "preaxial polydactyly-colobomata-intellectual disability syndrome" "HSD10 disease, neonatal type" "tauroursodeoxycholate measurement" - "level of protein FAM204A in blood serum" "2-Picolinic acid measurement" + "level of protein FAM204A in blood serum" "level of Diacylglycerol (18:1_18:2) in blood serum" "Tatton-Brown-Rahman overgrowth syndrome" "isovalerate" @@ -46655,11 +46655,11 @@ "Anti-hepatitis B virus surface antigen IgG measurement" "EnIGMA" "HG03175" - "High pulse pressure" + "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 measurement" "revision of total hip arthroplasty"@en + "High pulse pressure" "immune organ" "inflammatory disease, non-human animal" - "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 measurement" "obsolete_PMM2-CDG" "adenosine diphosphate measurement"@en "ring stage trophozoite" @@ -46681,8 +46681,8 @@ "vitamin A measurement" "level of cytochrome b-c1 complex subunit 7 in blood serum" "obsolete_partial duplication of the short arm of chromosome X" - "extraosseous osteosarcoma" "fenasulam measurement" + "extraosseous osteosarcoma" "disease staging" "double negative thymocyte" "HL-60/S4"@en @@ -46721,8 +46721,8 @@ "colonic mucosa" "obsolete_hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome" "Fallopian Tube Serous Adenocarcinoma" - "laryngeal diphtheria" "obsolete_IRIDA syndrome" + "laryngeal diphtheria" "Ehlers-Danlos syndrome, spondylodysplastic type, 2" "Congenital disorder of glycosylation with dilated cardiomyopathy" "vulvar neuroendocrine carcinoma" @@ -46763,11 +46763,11 @@ "allergy measurement" "enveloping layer of ectoderm" "obsolete_benign non-familial infantile seizures" - "X-24747 measurement" "Tetrahymena thermophila" "5-oxoprolinase deficiency" - "interleukin 1 Receptor accessory protein measurement" + "X-24747 measurement" "tyrosine-protein kinase FYN measurement" + "interleukin 1 Receptor accessory protein measurement" "Pierre Robin syndrome associated with branchial archs anomalies" "Congenital lactic acidosis" "level of hyaluronidase-1 in blood serum" @@ -46780,12 +46780,12 @@ "small intestine cancer" "Partial trisomy of the short arm of chromosome 9" "inherited deficiency anemia" - "LP.17 seventeen leaves visible stage" "Ileal Neuroendocrine Tumor G1" + "LP.17 seventeen leaves visible stage" + "NOR"@en "X-linked intellectual disability, van Esch type" "CD69-positive, CD4-positive single-positive thymocyte" "Pantoea agglomerans" - "NOR"@en "tempol" "septin-10 measurement" "taurodontia-absent teeth-sparse hair syndrome" @@ -46928,8 +46928,8 @@ "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" "retinal ischemia" "periostin measurement" - "trophoblast" "proline measurement" + "trophoblast" "pituitary apoplexy" "spinal muscular atrophy, type 1" "chordin-like protein 2 measurement" @@ -46986,15 +46986,15 @@ "response to doxorubicin" "X-12112 measurement" "Contractures - ectodermal dysplasia - cleft lip/palate" - "vascular brain injury" "hemoglobin C-beta-thalassemia syndrome" "Zaire ebolavirus" "peregrin" + "vascular brain injury" "methylmalonic aciduria and homocystinuria" "tubal tonsil" - "Caco-2" "level of ubiquitin carboxyl-terminal hydrolase 11 in blood serum" "female pregnancy" + "Caco-2" "obsolete familial hyperreninemic hypoaldosteronism type 1" "level of prolargin in blood serum" "BC-2" @@ -47019,8 +47019,8 @@ "peroxisome biogenesis disorder 6B" "T/C-28a2" "Epilepsy and/or ataxia with myoclonus as major feature" - "death from other causes" "level of keratin, type I cytoskeletal 14 in blood serum" + "death from other causes" "Autosomal dominant spastic paraplegia type 6" "cytohesin-1" "Influenza A virus" @@ -47051,8 +47051,8 @@ "autosomal recessive nonsyndromic hearing loss 9" "Proximal spinal muscular atrophy type 4" "obsolete_leukocyte adhesion deficiency" - "tumour of cranial and spinal nerves" "obsolete_hereditary chronic pancreatitis" + "tumour of cranial and spinal nerves" "TpTe measurement" "muscular dystrophy, congenital, with or without seizures" "nuclear RNA export factor 1 measurement" @@ -47071,8 +47071,8 @@ "distal hereditary motor neuropathy type 7" "C-C motif chemokine 4-like measurement" "helping behaviour" - "phenylalanine" "radio-ulnar synostosis, bilateral" + "phenylalanine" "congenitally corrected transposition of the great arteries" "familial thrombocytosis" "paralemmin" @@ -47094,10 +47094,10 @@ "histiocytic medullary reticulosis" "X-linked Charcot-Marie-Tooth disease" "Basaloid Carcinoma" - "free cholesterol in VLDL measurement " "PARE-Seq" "inherited prekallikrein deficiency" "cysteine-rich secretory protein 2" + "free cholesterol in VLDL measurement " "Slide-seq" "calcaneus" "Sphingomyelin (d18:1/14:0, d16:1/16:0) measurement" @@ -47118,10 +47118,10 @@ "level of lysine-specific histone demethylase 1A in blood serum" "matrix metalloproteinase-19" "Pulmonary hypoplasia" - "Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "tick paralysis" "Abnormal thymus morphology" "lipopolysaccharide" + "Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "monocarboxylate transporter 4" "left inferior lateral ventricle volume measurement" "freshwater sediment metagenome" @@ -47130,8 +47130,8 @@ "level of lysozyme-like protein 2 in blood serum" "enamel caries" "2-isopropylmalate" - "versican core protein" "obsolete_Buschke-Ollendorff syndrome" + "versican core protein" "level of protein ripply1 in blood serum" "Kit-positive, CD34-positive common myeloid progenitor" "level of ZW10 interactor in blood serum" @@ -47227,8 +47227,8 @@ "obsolete_46,XX disorder of sex development induced by fetoplacental androgens excess" "distal monosomy 7p" "level of uncharacterized protein C19orf18 (human) in blood serum" - "Gallbladder Adenocarcinoma" "joint component" + "Gallbladder Adenocarcinoma" "Trifolium repens" "scrotum" "bladder clear cell adenocarcinoma" @@ -47278,8 +47278,8 @@ "sulfate of piperine metabolite C16H19NO3 (2) measurement" "AP-1 complex subunit gamma-like 2" "ursocholate measurement" - "myopathy, tubular aggregate, 2" "arthritis" + "myopathy, tubular aggregate, 2" "obsolete_nuclear oculomotor paralysis" "obsolete_dentinogenesis imperfecta type 3" "mediator of RNA polymerase II transcription subunit 4 measurement" @@ -47315,8 +47315,8 @@ "level of PR domain zinc finger protein 1 in blood serum" "inflammation (MPATH)" "pineal region teratoma" - "EPIG-Seq" "obsolete_infantile Krabbe disease" + "EPIG-Seq" "level of Diacylglycerol (18:1_18:3) in blood serum" "MAP/microtubule affinity-regulating kinase 3" "obsolete_MPI-CDG" @@ -47335,10 +47335,10 @@ "GM17121" "Hydantoin-5-propionic acid measurement" "Salmonella enterica subsp. enterica serovar Typhimurium str. LT2" - "prostaglandin g/h synthase 2 measurement" "SOSS complex subunit B2" - "maternal phenylketonuria" + "prostaglandin g/h synthase 2 measurement" "level of uroporphyrinogen decarboxylase in blood serum" + "maternal phenylketonuria" "3-Indolepropionic acid to 1,4-dihydro-1-Methyl-4-oxo-3-pyridinecarboxamide ratio" "3-hydroxy-3-methylglutaric aciduria" "retinitis pigmentosa 73" @@ -47375,12 +47375,12 @@ "ALG9-congenital disorder of glycosylation" "Ovarian Small Cell Carcinoma" "disposition index measurement" - "eosinophil percentage of leukocytes" "clozapine" "glutathione S-transferase mu 5" "charcot-marie-tooth disease, axonal, type 2DD" "4-hydroxybenzoate" "level of carbonic anhydrase 5A, mitochondrial in blood serum" + "eosinophil percentage of leukocytes" "ATC Code B Blood and blood forming organs" "intellectual disability-cataracts-kyphosis syndrome" "level of junctophilin-4 in blood serum" @@ -47398,16 +47398,16 @@ "hereditary inclusion body myopathy type 4" "level of procollagen galactosyltransferase 1 in blood serum" "obsolete_48,XXYY syndrome" - "well-differentiated liposarcoma" "Low birth weight - dwarfism - dysgammaglobulinemia" - "Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement" + "well-differentiated liposarcoma" "obsolete_neurocranial trabecula" "branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome" "osteoma" + "Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement" "ACTH-Producing Pituitary Gland Carcinoma" - "1-palmitoyl-2-linoleoyl-GPC (16:0/18:2) measurement" "Lower limb asymmetry" "fibrinogen measurement" + "1-palmitoyl-2-linoleoyl-GPC (16:0/18:2) measurement" "endocrine system component" "hearing impairment and infertile male syndrome" "lethal midline granuloma" @@ -47437,19 +47437,19 @@ "level of centrosomal protein 20 in blood serum" "Rhodospirillum rubrum" "Middle East respiratory syndrome" - "obsolete_benign partial epilepsy with secondarily generalized seizures in infancy" "GRAM domain-containing protein 1C measurement" "X-24431 measurement" "omega-3 polyunsaturated fatty acid measurement" "ILSXISS107/TejJ" + "obsolete_benign partial epilepsy with secondarily generalized seizures in infancy" + "obsolete_zebra body myopathy" "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" "tyrosine-protein kinase FRK measurement" "protocadherin gamma-C3" "aniridia - intellectual disability syndrome" "obsolete_response to dabigatran etexilate" - "obsolete_zebra body myopathy" - "regulator of G-protein signaling 8" "Genetic immune deficiency with skin involvement" + "regulator of G-protein signaling 8" "qualitative or quantitative defects of dysferlin" "obsolete_FLOTCH syndrome" "vasculogenic impotence" @@ -47470,10 +47470,10 @@ "Inclusion Body Fibromatosis" "ichthyosis, annular epidermolytic 1" "rigid spine muscular dystrophy 1" - "serine protease inhibitor Kazal-type 2 measurement" "Grey matter density measurement"@en "biological macromolecule" "congenital vertical talus, bilateral" + "serine protease inhibitor Kazal-type 2 measurement" "conversion protocol" "verrucous hemangioma" "negative elongation factor E" @@ -47511,8 +47511,8 @@ "obsolete_familial nonmedullary thyroid carcinoma" "tyrosine-protein kinase HCK measurement" "GM17825" - "peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity" "thanatophoric dysplasia" + "peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity" "adenosine measurement"@en "urocortin I" "Detroit562" @@ -47587,8 +47587,8 @@ "RRMAB-seq" "response to ropeginterferon alfa-2b" "NCI-H1793" - "GM07029" "obsolete_primary lymphedema" + "GM07029" "ostertagiasis" "myocardial disorder" "hereditary breast ovarian cancer syndrome" @@ -47599,8 +47599,8 @@ "bupropion" "Cerebral atrophy" "Spinocerebellar ataxia type 43" - "obsolete_embryonic central brain glia" "Non-polyposis Turcot syndrome" + "obsolete_embryonic central brain glia" "1-ribosyl-imidazoleacetate measurement" "thoracic aorta" "obsolete_facial ganglion" @@ -47633,8 +47633,8 @@ "level of hyaluronidase-4 in blood serum" "autosomal recessive cerebellar ataxia with late-onset spasticity" "X-13741 measurement" - "insecticide" "DNA library construction"@en + "insecticide" "Kaposi sarcoma, susceptibility to" "Uridine Diphosphate Galactose" "TPM3-related myopathy" @@ -47667,24 +47667,24 @@ "level of survival motor neuron protein in blood serum" "isoleucine-to-X-11529 ratio" "level of Triacylglycerol (51:4) in blood serum" - "1-oleoyl-2-docosapentaenoyl-GPC (18:1/22:5n3) measurement" "level of Mth938 domain-containing protein in blood serum" + "1-oleoyl-2-docosapentaenoyl-GPC (18:1/22:5n3) measurement" "Dysharmonic delayed bone age" "level of mitochondrial import inner membrane translocase subunit Tim10 in blood serum" "protein-glutamine gamma-glutamyltransferase e measurement" "anti-polyomavirus 2 antibody measurement"@en "obsolete_apolipoprotein A-I deficiency" "CS57616" - "obsolete_pyruvate carboxylase deficiency, severe neonatal type" "response to etoposide" + "obsolete_pyruvate carboxylase deficiency, severe neonatal type" "X-12117 measurement" "retinal perforation" "obsolete_spondylometaphyseal dysplasia, Czarny-Ratajczak type" "obsolete_genetic multiple congenital anomalies/dysmorphic syndrome" "GM17104" + "obsolete_lipoic acid synthetase deficiency" "ramus auricularis of the vagus nerve" "intellectual disability, autosomal dominant 20" - "obsolete_lipoic acid synthetase deficiency" "ribosome-binding protein 1 measurement" "cardiomyopathy, familial restrictive, 3" "IQ domain-containing protein F3" @@ -47696,11 +47696,11 @@ "platelet-derived growth factor receptor-like protein measurement" "level of splicing factor 3B subunit 6 in blood serum" "central vein of liver" - "3-phosphoserine phosphatase deficiency" "autosomal dominant nonsyndromic hearing loss 7" - "mitral atresia disorder" "maternally-inherited diabetes and deafness" + "3-phosphoserine phosphatase deficiency" "IgD plasmablast" + "mitral atresia disorder" "genochondromatosis type 2" "obsolete secondary ectropion" "Autosomal recessive spastic paraplegia type 35" @@ -47728,8 +47728,8 @@ "Abnormal dental enamel morphology" "Congenital muscular dystrophy - infantile cataract - hypogonadism" "Lewy body dementia" - "alkaline phosphatase, germ cell type" "X-12063 measurement" + "alkaline phosphatase, germ cell type" "BC-3" "autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation" "NCI-H2279" @@ -47797,9 +47797,9 @@ "central hypoventilation syndrome, congenital, 2, and autonomic dysfunction" "cancer-associated retinopathy" "Developmental malformations - deafness - dystonia" - "keratin, type I cytoskeletal 17 measurement" "skeletal dysplasia and progressive central nervous system degeneration, lethal" "liver sarcoma" + "keratin, type I cytoskeletal 17 measurement" "N-icosanoylsphingosine-1-phosphocholine" "level of PHD finger protein 11 in blood serum" "level of AP-1 complex subunit beta-1 in blood serum" @@ -47903,10 +47903,10 @@ "pterin" "X-linked Alport syndrome" "epithelium of bronchus" - "obsolete_spheroid body myopathy" "cell growth regulator with EF hand domain protein 1" "level of oxysterols receptor LXR-beta in blood serum" "obsolete_peripheral precocious puberty" + "obsolete_spheroid body myopathy" "obsolete_Aicardi syndrome" "SYNGAP1-related developmental and epileptic encephalopathy" "curcumin" @@ -47949,8 +47949,8 @@ "droplet-based single-cell RNA library preparation" "connective tissue-activating peptide III measurement" "Antwerpen ecotype" - "urine collection" "obsolete syndromic optic nerve hypoplasia" + "urine collection" "obsolete_endometrium" "splenic metallophillic macrophage" "Common atrium" @@ -47978,8 +47978,8 @@ "malignant perineurioma" "Hamartomatous polyposis" "juvenile myasthenia gravis" - "(14 or 15)-methylpalmitate (a17:0 or i17:0) measurement" "Cohen-Gibson syndrome" + "(14 or 15)-methylpalmitate (a17:0 or i17:0) measurement" "prolapse of female genital organ" "cyclin-dependent kinase inhibitor 3" "leukocyte immunoglobulin-like receptor subfamily B member 2 measurement" @@ -48067,9 +48067,9 @@ "(+)-abscisic acid" "renal-hepatic-pancreatic dysplasia 1" "mannose-6-phosphate isomerase" - "hypothalamic disorder" "portion of meristem tissue" "Increased circulating lactate concentration" + "hypothalamic disorder" "KRT14-related epidermolysis bullosa simplex" "level of protein EOLA1 (human) in blood serum" "epididymis" @@ -48093,8 +48093,8 @@ "obsolete_cotyledon" "Pelvic girdle muscle weakness" "camptodactyly-tall stature-scoliosis-hearing loss syndrome" - "bronchial brush biopsy" "microphthalmia-associated transcription factor" + "bronchial brush biopsy" "Leptosphaerulina chartarum" "intellectual disability, autosomal dominant 45" "obsolete_multiple epiphyseal dysplasia and pseudoachondroplasia" @@ -48104,13 +48104,13 @@ "obsolete_congenital muscular dystrophy with hyperlaxity" "epibranchial 5" "DNA repair protein XRCC1 measurement" + "Tn5 B1-4" "level of EMI domain-containing protein 1 in blood serum" "subcutaneous adipose tissue" - "Tn5 B1-4" "obsolete_joint formation defects" "obsolete_pentasomy X" - "myopathy caused by variation in FKRP" "obsolete_terminal nerve" + "myopathy caused by variation in FKRP" "fibroma" "obsolete_congenital factor XII deficiency" "obsolete_prostate specific antigen measurement" @@ -48119,8 +48119,8 @@ "IgG isotype profile measurement" "Penicillium viridicatum" "V-set and transmembrane domain-containing protein 4" - "obsolete_Ochoa syndrome" "level of group IIC secretory phospholipase A2 in blood serum" + "obsolete_Ochoa syndrome" "zinc finger protein 230" "extrahepatic bile duct carcinoma" "severe combined immunodeficiency" @@ -48128,8 +48128,8 @@ "melanocyte protein PMEL measurement" "Euphoria" "candela" - "Congenital aphakia" "NF-kappa-B inhibitor delta" + "Congenital aphakia" "lysophosphatidylcholine 14:0" "omphalocele syndrome, Shprintzen-Goldberg type" "retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome" @@ -48197,8 +48197,8 @@ "histone deacetylase complex subunit SAP30L" "T1 B cell" "obsolete_distal monosomy 9p" - "X-24699 measurement" "thiamin pyrophosphokinase 1" + "X-24699 measurement" "Hantaan virus" "IgG4-related dacryoadenitis and sialadenitis" "GM17826" @@ -48252,8 +48252,8 @@ "3-Hydroxy-3-methyl butyric acid measurement" "Ollier disease" "Acute Leukemia" - "92-1"@en "leukemoid reaction" + "92-1"@en "Alexander disease type II" "otitis media with effusion" "neuronopathy, distal hereditary motor, autosomal recessive 5" @@ -48272,11 +48272,11 @@ "cellular metabolic process" "abdominal aorta" "mevalonate" + "4,8,12,15,19-docosapentaenoic acid measurement" "neurodegeneration with brain iron accumulation 2A" "word reading" - "4,8,12,15,19-docosapentaenoic acid measurement" - "MitoRCA-seq" "uterine sarcoma" + "MitoRCA-seq" "level of RNA binding protein fox-1 homolog 1 in blood serum" "cytotrophoblast" "orofacial cleft 8" @@ -48314,11 +48314,11 @@ "progressive microcephaly-seizures-cortical blindness-developmental delay syndrome" "level of protein ADM2 in blood serum" "Leymus triticoides" - "Mild short stature" "obsolete_coloboma of macula" + "Mild short stature" "obsolete_neurenteric cyst" - "has an isolated presentation" "deoxyadenosine monophosphate measurement" + "has an isolated presentation" "TEMPS-A questionnaire" "telecanthus-hypertelorism-strabismus-pes cavus syndrome" "threonate measurement" @@ -48377,8 +48377,8 @@ "sn-Hi-C" "salivary gland adenoid cystic carcinoma" "Rare bone disease related to a common gene or pathway defect" - "dickkopf-like protein 1 measurement" "X-11315-to-pyroglutamine ratio" + "dickkopf-like protein 1 measurement" "cadaver dissection" "Thalassiosira pseudonana CCMP1335" "Respiratory failure requiring assisted ventilation" @@ -48398,8 +48398,8 @@ "response to 4'-epidoxorubicin" "X-12125 measurement" "sphingomyelin 18:1 measurement"@en - "Lethal congenital contracture syndrome type 1" "GM17105" + "Lethal congenital contracture syndrome type 1" "matrix metalloproteinase–degraded type I collagen measurement"@en "acinar cell" "cocaine dependence" @@ -48451,8 +48451,8 @@ "dimethylarginine (SDMA + ADMA) measurement" "caspase-2 measurement" "glutaryl-CoA dehydrogenase deficiency" - "nucleosome assembly protein 1-like 2 measurement" "Large forehead" + "nucleosome assembly protein 1-like 2 measurement" "diaminopimelate measurement" "obsolete_PYCR1-related de Barsy syndrome" "obsolete_mucopolysaccharidosis type 6, slowly progressing" @@ -48471,8 +48471,8 @@ "gastrin secretion abnormality" "nuclear transcription factor Y subunit alpha" "level of PHD finger protein 3 in blood serum" - "Other syndrome with lissencephaly as a major feature" "level of protein S100-A9 in blood serum" + "Other syndrome with lissencephaly as a major feature" "dedicator of cytokinesis protein 2" "rectum rhabdomyosarcoma" "cyclin-dependent kinase 1:g2/mitotic-specific cyclin-B1 complex measurement" @@ -48627,8 +48627,8 @@ "dehydrogenase/reductase SDR family member 9" "vesicle-associated membrane protein-associated protein B/C" "Episodic ataxia with slurred speech" - "response to dietary selenium supplementation" "obsolete_trisomy 12p" + "response to dietary selenium supplementation" "Papillon-Lefèvre syndrome" "paracentesis" "autism-facial port-wine stain syndrome" @@ -48654,8 +48654,8 @@ "Uveal melanoma" "benign ovarian mucinous tumor" "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5" - "Thunnus thynnus" "level of actin filament-associated protein 1-like 2 in blood serum" + "Thunnus thynnus" "level of glypican-1 in blood serum" "obsolete_distal 22q11.2 microduplication syndrome" "AG11726" @@ -48667,8 +48667,8 @@ "intrahepatic bile duct" "free cholesterol to total lipids in IDL percentage " "10x 3' v3" - "level of origin recognition complex subunit 6 in blood serum" "C. elegans embryo stage" + "level of origin recognition complex subunit 6 in blood serum" "serum ST2 amount" "Sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0) measurement" "uracil-DNA glycosylase" @@ -48709,8 +48709,8 @@ "Tetraodon nigroviridis" "level of heat shock 70 kDa protein 1B in blood serum" "active breakpoint cluster region-related protein" - "obsolete_sterol biosynthesis disorder" "level of electroneutral sodium bicarbonate exchanger 1 in blood serum" + "obsolete_sterol biosynthesis disorder" "disposition" "serine/threonine-protein phosphatase 4 regulatory subunit 3A" "beta-sarcoglycan measurement" @@ -48742,17 +48742,17 @@ "scavenger mRNA-decapping enzyme DcpS" "atypical Rett syndrome" "1-palmitoyl-2-docosahexaenoyl-GPE (16:0/22:6) measurement" - "response to steroid"@en "cleavage stage" + "response to steroid"@en "gliomatosis cerebri" "Berardinelli-Seip congenital lipodystrophy" "obsolete_hemolytic anemia due to glutathione reductase deficiency" "ML2" "GM15242" "lymphokine-activated killer T-cell-originated protein kinase" + "response to immune checkpoint inhibitor" "level of Fc receptor-like B in blood serum" "XFE progeroid syndrome" - "response to immune checkpoint inhibitor" "explosive" "classic dopamine transporter deficiency syndrome" "hypoparathyroidism-deafness-renal disease syndrome" @@ -48763,9 +48763,9 @@ "level of transmembrane protease serine 5 in blood serum" "level of gamma-glutamyltranspeptidase 2 in blood serum" "obsolete_upper thoracic spina bifida cystica" + "obsolete_autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" "Malignant Pancreatic Neoplasm" "dorsal apodeme specific anlage" - "obsolete_autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" "zinc fingers and homeoboxes protein 1" "phosphatidylinositide phosphatase SAC2" "progenitor cell of endocrine pancreas" @@ -48847,8 +48847,8 @@ "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A" "growth rate measurement"@en "Pseudo-fractures" - "protein TSPEAR" "Meconium ileus" + "protein TSPEAR" "level of ribulose-phosphate 3-epimerase in blood serum" "COLO 206F" "CS57901" @@ -48917,15 +48917,15 @@ "AKT2-related familial partial lipodystrophy" "SW707"@en "Disorder of peptide metabolism" + "1-margaroyl-GPC (17:0) measurement" "GM17227" "peroxisome biogenesis disorder 10A (Zellweger)" - "1-margaroyl-GPC (17:0) measurement" "U6A" "obsolete_vagal placode 3" "imperforate anus" + "HG03342" "level of keratin-associated protein 2-4 in blood serum" "Mauriac syndrome" - "HG03342" "uncharacterized protein C17orf67 measurement" "interferon beta measurement" "Abnormality of the endocrine system" @@ -48944,9 +48944,9 @@ "obsolete_isolated ectopia lentis" "macrophage colony-stimulating factor 1 measurement" "obsolete_coronary stenosis" + "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities" "platelet aggregation" "host intracellular region" - "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities" "hypoinsulinemic hypoglycemia and body hemihypertrophy" "nasal cavity and paranasal sinus carcinoma" "malignant choroid melanoma" @@ -48964,8 +48964,8 @@ "pancreatic endocrine carcinoma" "Cerebral white matter hypoplasia" "Blepharophimosis-intellectual disability syndrome" - "neurodegeneration, infantile-onset, biotin-responsive" "ras-related C3 botulinum toxin substrate 3 measurement" + "neurodegeneration, infantile-onset, biotin-responsive" "associative visual agnosia" "cutaneous mucoepidermoid carcinoma" "obsolete_chordoma" @@ -49014,8 +49014,8 @@ "Reis-Bucklers corneal dystrophy" "H syndrome" "mitochondrial complex 2 deficiency, nuclear type 3" - "inferior temporal gyrus volume measurement"@en "serine-rich single-pass membrane protein 1 measurement" + "inferior temporal gyrus volume measurement"@en "substrate type" "chronic gingivitis" "juvenile primary lateral sclerosis" @@ -49121,11 +49121,11 @@ "cathepsin E measurement" "spermatogenic failure 66" "obsolete_infantile epileptic-dyskinetic encephalopathy" - "diffuse lipomatosis" "multiple acyl-CoA dehydrogenase deficiency" "disorder of visual system" "reading and spelling ability" "vaginal yolk sac tumor" + "diffuse lipomatosis" "Shukla-Vernon syndrome" "obsolete_rectal carcinoma" "miTRAP" @@ -49220,8 +49220,8 @@ "Malformation syndrome with skin/mucosae involvement" "obsolete_cap myopathy" "X-12126 measurement" - "TOX high mobility group box family member 3 measurement" "SJSA1" + "TOX high mobility group box family member 3 measurement" "eccrine sweat gland cancer" "natural killer cell" "Bethlem myopathy 1A" @@ -49358,15 +49358,15 @@ "palsy" "metabotropic glutamate receptor 4" "mitomycin C" - "free cholesterol to total lipids in large HDL percentage " "ocular cancer" + "free cholesterol to total lipids in large HDL percentage " "level of oxysterol-binding protein 1 in blood serum" "obsolete_medullary sponge kidney" "dihomo-linoleate 20:2n6 measurement" "level of killer cell lectin-like receptor subfamily B member 1 in blood serum" + "iPS DF 19.11" "HT-29" "West Nile virus" - "iPS DF 19.11" "obsolete_Hirschsprung disease" "nucleus accumbens" "embryonal carcinoma" @@ -49385,8 +49385,8 @@ "level of mediator of RNA polymerase II transcription subunit 20 in blood serum" "auriculocondylar syndrome" "peroxisome biogenesis disorder due to PEX16 defect" - "SCLC-22H" "Barrett adenocarcinoma" + "SCLC-22H" "obsolete_isolated scaphocephaly" "DNA fragmentation factor subunit alpha" "glucosamine 6-phosphate N-acetyltransferase measurement" @@ -49518,8 +49518,8 @@ "CAL51" "level of ELAV-like protein 2 in blood serum" "Cardiac Rhabdomyoma" - "obsolete_symptomatic form of Coffin-Lowry syndrome in female carriers" "Charcot-Marie-Tooth disease dominant intermediate C" + "obsolete_symptomatic form of Coffin-Lowry syndrome in female carriers" "obsolete_Adult hypophosphatasia" "obsolete_glycogen storage disease due to liver phosphorylase kinase deficiency" "age at last pregnancy measurement" @@ -49532,8 +49532,8 @@ "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" "nuclear progesterone receptor binding" "obsolete_Hutchinson-Gilford progeria syndrome" - "Moniezia benedeni" "X-12462 measurement" + "Moniezia benedeni" "obsolete_syndromic retinitis pigmentosa" "thoracic aortic aneurysm" "Craniofacial dysplasia-osteopenia syndrome" @@ -49541,8 +49541,8 @@ "Nematoda" "Leber congenital amaurosis 8" "respiratory system venous blood vessel" - "Rothmund-Thomson syndrome type 2" "3-Indolepropionic acid to LysoPC 20:1 ratio" + "Rothmund-Thomson syndrome type 2" "kallikrein-11 measurement"@en "congenital absence of both forearm and hand" "Chronic diarrhea with hereditary sensory and autonomic neuropathy" @@ -49574,8 +49574,8 @@ "obsolete_genetic factor" "Ehlers-Danlos syndrome, cardiac valvular type" "triglycerides in large HDL measurement " - "agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome" "solitary median maxillary central incisor syndrome" + "agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome" "myoclonic dystonia 26" "pancreatic D cell" "partial deletion of the short arm of chromosome 10" @@ -49696,14 +49696,14 @@ "tyrosine-protein kinase lyn measurement" "level of malonyl-CoA decarboxylase, mitochondrial in blood serum" "level of islet amyloid polypeptide in blood serum" + "obsolete_autosomal recessive hyperinsulinism due to SUR1 deficiency" "chloride measurement" "arylsulfatase B measurement" - "obsolete_autosomal recessive hyperinsulinism due to SUR1 deficiency" - "neuroectodermal-endocrine syndrome" "obsolete_mammary-digital-nail syndrome" + "neuroectodermal-endocrine syndrome" "serine/threonine-protein kinase WNK1" - "choroideremia-hypopituitarism syndrome" "vertebral disorder" + "choroideremia-hypopituitarism syndrome" "uncharacterized protein C1orf115 measurement" "polyploidy" "obsolete_inguinal region" @@ -49741,8 +49741,8 @@ "autosomal dominant complex spastic paraplegia" "dipeptidyl peptidase 2 measurement" "inter-alpha-trypsin inhibitor heavy chain H2" - "small kidney" "Cornelia de Lange syndrome" + "small kidney" "urate-to-histidine ratio" "congenital mitral valve insufficiency and/or stenosis" "congenital communicating hydrocephalus" @@ -49751,9 +49751,9 @@ "pulmonary surfactant-associated protein d measurement" "454 GS 20 standard manufacturer's protocol" "anti-human herpes virus 7 antibody measurement"@en + "triacylglycerol 50:3 measurement"@en "typhasterol" "sphingomyelin 22:1 measurement"@en - "triacylglycerol 50:3 measurement"@en "GM17107" "developing seed stage" "early whole plant fruit ripening stage" @@ -49847,9 +49847,9 @@ "cyclin-dependent kinase 5:cyclin-dependent kinase 5 activator 1 complex measurement" "obsolete_lower motor neuron syndrome with late-adult onset" "GM10845" + "acidic leucine-rich nuclear phosphoprotein 32 family member b measurement" "obsolete_tracheal primordium" "autoimmune thyroid disease, susceptibility to" - "acidic leucine-rich nuclear phosphoprotein 32 family member b measurement" "3-Indolepropionic acid to Uridine ratio" "obsolete_49,XXXYY syndrome" "obsolete_orofaciodigital syndrome type 13" @@ -49913,18 +49913,18 @@ "FiT-Seq" "obsolete_adult Krabbe disease" "Clear Cell Papillary Cystadenoma" - "Kit-low, CD34-positive eosinophil progenitor cell" "X-17185 measurement" + "Kit-low, CD34-positive eosinophil progenitor cell" "obsolete syndactyly type 2" "obsolete_X-linked cone dysfunction syndrome with myopia" "pharyngeal pouch 1" "Huntington disease-like 3" "salivary duct carcinoma" "neuronal growth regulator 1 measurement" - "autosomal recessive spinocerebellar ataxia 12" "obsolete_T+ B+ severe combined immunodeficiency" - "heart valve prosthesis" "single nucleus RNA sequencing" + "autosomal recessive spinocerebellar ataxia 12" + "heart valve prosthesis" "Charcot-Marie-Tooth disease type 4A" "feather" "pterin-4-alpha-carbinolamine dehydratase" @@ -49944,8 +49944,8 @@ "level of ubiquitin carboxyl-terminal hydrolase 19 in blood serum" "carbohydrate transport" "T-Cell Prolymphocytic Leukemia" - "level of secretoglobin family 3A member 2 in blood serum" "X-12094 measurement" + "level of secretoglobin family 3A member 2 in blood serum" "Smart-seq" "Joubert syndrome 36" "embryonic stem cell" @@ -50117,8 +50117,8 @@ "level of GTP cyclohydrolase 1 in blood serum" "cone dystrophy" "level of mediator of RNA polymerase II transcription subunit 28 in blood serum" - "Epinephelus tauvina" "Gaucher disease" + "Epinephelus tauvina" "myristoleate" "mosaic trisomy 20" "Allergy" @@ -50197,8 +50197,8 @@ "obsolete plastid part" "cranial ganglion" "hyper-IgE recurrent infection syndrome 1, autosomal dominant" - "enzymatic dissociation" "splenic white pulp macrophage" + "enzymatic dissociation" "disseminated" "split foot, unilateral" "C9 carnitine measurement" @@ -50262,11 +50262,11 @@ "obsolete_partial duplication of chromosome 3" "obsolete_pericardium" "gastric neuroendocrine tumor, well differentiated, low or intermediate grade" + "Intermediate osteopetrosis" "tyrosine-protein phosphatase non-receptor type 13" "Sotos syndrome" - "Intermediate osteopetrosis" - "CAL851" "Cavernous Hemangioma" + "CAL851" "tachypnea" "mitogen-activated protein kinase kinase kinase kinase 5" "sialidosis type I" @@ -50311,9 +50311,9 @@ "low-grade astrocytoma" "lung adenocarcinoma" "beta-2-microglobulin measurement" - "obsolete_severe early-onset axonal neuropathy due to MFN2 deficiency" "obsolete_L428 cell" "CD63 antigen measurement" + "obsolete_severe early-onset axonal neuropathy due to MFN2 deficiency" "interleukin-13 (Mus musculus)" "level of iron-sulfur cluster co-chaperone protein HscB in blood serum" "chronic perichondritis of pinna" @@ -50335,8 +50335,8 @@ "obsolete_Farber lipogranulomatosis" "IGF-1 measurement" "linoleate (18:2n6) measurement" - "indole-3-acetic-acid-O-glucuronide measurement" "SLAM family member 1" + "indole-3-acetic-acid-O-glucuronide measurement" "level of CCR4-NOT transcription complex subunit 1 in blood serum" "regulation of sensory perception of pain" "obsolete_non-syndromic male infertility due to sperm motility disorder" @@ -50479,14 +50479,14 @@ "osteogenesis imperfecta type 4" "self-healing collodion baby" "myeloperoxidase (MPO)-DNA complex measurement"@en + "Peroxisome biogenesis disorder-Zellweger syndrome spectrum" "obsolete_nucleus of terminal stria" "hereditary sensory and autonomic neuropathy type 1" - "Peroxisome biogenesis disorder-Zellweger syndrome spectrum" - "iatrogenic Kaposi's sarcoma" "obsolete_combined deficiency of factor V and factor VIII" + "iatrogenic Kaposi's sarcoma" "1-stearoyl-GPC (18:0) measurement" - "secretagogin" "tsA-201" + "secretagogin" "partial deletion of the long arm of chromosome 2" "Chest pain" "143B" @@ -50496,8 +50496,8 @@ "level of GH3 domain-containing protein in blood serum" "interferon omega-1 measurement" "glycoprotein hormone alpha-2" - "Abnormal male internal genitalia morphology" "Abnormal renal physiology" + "Abnormal male internal genitalia morphology" "obsolete_autosomal dominant optic atrophy plus syndrome" "4C" "Physarum polycephalum" @@ -50524,8 +50524,8 @@ "Macrothrombocytopenia" "paired immunoglobulin-like type 2 receptor beta" "level of 5alpha-pregnane-3beta,20alpha-diol disulfate in blood" - "obsolete_mitochondrial DNA maintenance syndrome" "growth factor receptor-bound protein 14 measurement" + "obsolete_mitochondrial DNA maintenance syndrome" "Leishmania chagasi" "growth differentiation factor 15 measurement" "obsolete_anterior endoderm anlage" @@ -50572,9 +50572,9 @@ "3-aminobenzamide" "X-24811 measurement" "cystatin-F measurement" + "obsolete_childhood disintegrative disorder" "immunoglobulin lambda-like polypeptide 1" "nevus" - "obsolete_childhood disintegrative disorder" "UPF0235 protein C15orf40" "positive regulation of saliva secretion" "ear inflorescence" @@ -50710,17 +50710,17 @@ "obsolete_cervicothoracic spina bifida aperta" "stuttering, familial persistent, 1" "bilateral renal agenesis" - "partial duplication of chromosome 11" "obsolete_congenital vitamin K-dependent coagulation factors deficiency" + "partial duplication of chromosome 11" "trait in response to bupropion" "Mental deterioration" "Dent disease type 2" "femtogram" "Abnormality of the bladder" "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" + "kin of IRRE-like protein 2 measurement" "calpain-3 measurement" "obsolete_inflammation" - "kin of IRRE-like protein 2 measurement" "obsolete_complex hereditary spastic paraplegia" "gallbladder rhabdomyosarcoma" "obsolete_masseter muscle" @@ -50854,9 +50854,9 @@ "coenzyme Q10 deficiency" "obsolete congenital myopathy with cores" "response to topoisomerase inhibitor" - "causalgia" "anal canal cancer" "mandibulofacial dysostosis with mental deficiency" + "causalgia" "ovary rhabdomyosarcoma" "colorectal cancer, susceptibility to, 3" "level of myosin light chain 4 in blood serum" @@ -50864,9 +50864,9 @@ "DnaJ homolog subfamily B member 9 measurement" "type IV hypersensitivity disease" "1-stearoyl-2-linoleoyl-GPI (18:0/18:2) measurement" - "iPS-18b" "MCF-7" "LRP2-binding protein" + "iPS-18b" "osteoarthritis" "level of fatty acid-binding protein 12 in blood serum" "X-linked sideroblastic anemia with ataxia" @@ -50921,8 +50921,8 @@ "Kin-S49" "congenital laryngeal web" "level of heparan-sulfate 6-O-sulfotransferase 3 in blood serum" - "obsolete cranial malformation" "obsolete_isolated focal cortical dysplasia type II" + "obsolete cranial malformation" "Lowe-Kohn-Cohen syndrome" "oculomotor nuclear complex" "splenic tingible body macrophage" @@ -50941,8 +50941,8 @@ "response to tenofovir" "Abnormality of the urinary system" "obsolete_pericardial and diaphragmatic defect" - "pars opercularis volume measurement"@en "blood osmolality measurement" + "pars opercularis volume measurement"@en "progressive retinal dystrophy due to retinol transport defect" "Charcot-Marie-Tooth disease dominant intermediate B" "placental smooth muscle cell"@en @@ -50971,9 +50971,9 @@ "Esophagitis" "upper aerodigestive tract neoplasm" "digestive system neoplasm" + "Microcephaly - digital anomalies - intellectual disability" "anxiety" "Influenza A virus (A/Texas/36/1991(H1N1))" - "Microcephaly - digital anomalies - intellectual disability" "histone deacetylase 8 measurement" "diffuse palmoplantar keratoderma - acrocyanosis syndrome" "breast cancer anti-estrogen resistance protein 3 measurement" @@ -51051,12 +51051,12 @@ "level of specifically androgen-regulated gene protein in blood serum" "brain-lung-thyroid syndrome" "Geospiza difficilis" - "calcineurin B homologous protein 1 measurement" - "alopecia, isolated" "steroid hormone" + "alopecia, isolated" "level of 11-beta-hydroxysteroid dehydrogenase 1 in blood serum" - "obsolete_sepal" + "calcineurin B homologous protein 1 measurement" "Abnormality of the digestive system" + "obsolete_sepal" "mechanical dissociation" "cutaneous fibrous histiocytoma" "Pleural effusion" @@ -51100,15 +51100,15 @@ "PIH1 domain-containing protein 2" "endometrium adenocarcinoma" "single cell information" - "chromosome 1q21.1 duplication syndrome" "obsolete_response to triptolide" + "chromosome 1q21.1 duplication syndrome" "smad1" "infantile epilepsy syndrome" "stomatal complex" "U1 small nuclear ribonucleoprotein A measurement" "CS57908" - "COV413A" "X-21845 measurement" + "COV413A" "pulmonary alveolar type 2 cell" "obsolete_acrocephalosyndactylia" "obsolete_endocardium" @@ -51137,10 +51137,10 @@ "obsolete_distal 17p13.1 microdeletion syndrome" "X-11786--methylcysteine measurement" "disseminated candidiasis" - "congenital anomaly of the great arteries" "Safe-SeqS" - "spinal muscular atrophy, type IV" + "congenital anomaly of the great arteries" "obsolete_primary neuron hindbrain" + "spinal muscular atrophy, type IV" "long QT syndrome 13" "blood N-carbamoylalanine measurement" "neuropathy, hereditary motor and sensory, type 6A" @@ -51192,8 +51192,8 @@ "CYP3A4 activity" "autosomal recessive spinocerebellar ataxia 13" "SK-N-AS" - "obsolete_glycoproteinosis" "genochondromatosis type 1" + "obsolete_glycoproteinosis" "acute myeloid leukemia, t(5;11)(q35;p15)" "Abnormal urine output" "excreta" @@ -51207,8 +51207,8 @@ "epididymal-specific lipocalin-8" "obsolete_partial duplication of chromosome 2" "partial deletion of the long arm of chromosome 3" - "endocrine tuberculosis" "501A" + "endocrine tuberculosis" "level of Phosphatidylcholine (14:0_18:1) in blood serum" "glomerular parietal epithelium" "level of AP-1 complex-associated regulatory protein in blood serum" @@ -51395,8 +51395,8 @@ "obsolete_infantile systemic hyalinosis" "partial trisomy/tetrasomy of the short arm of chromosome 12" "trait in response to buspirone" - "degree celsius" "obsolete_autosomal dominant hypohidrotic ectodermal dysplasia" + "degree celsius" "kinesin-like protein KIF1C measurement" "hormone secretion" "signal-regulatory protein gamma" @@ -51430,8 +51430,8 @@ "level of leukocyte-specific transcript 1 protein in blood serum" "level of protein enabled in blood serum" "obsolete_seq instrument model flag" - "obsolete_proximal symphalangism" "biomaterial provider" + "obsolete_proximal symphalangism" "TH-1" "level of 39S ribosomal protein L1, mitochondrial in blood serum" "ventricular septal defect" @@ -51578,9 +51578,9 @@ "Goniodysgenesis" "level of Phosphatidylcholine (18:0_20:3) in blood serum" "sodium/potassium-transporting ATPase subunit gamma" + "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" "level of Tax1-binding protein 1 in blood serum" "spindle" - "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" "obsolete_qualitative or quantitative defects of alpha-sarcoglycan" "cell barcode read" "imidazolium cation" @@ -51598,15 +51598,15 @@ "severe Canavan disease" "plexin-A4" "UDP-glucuronosyltransferase 1-6 measurement" - "t-cell receptor-associated transmembrane adapter 1 measurement" - "dysplastic oral keratinocyte" "obsolete_embryonic labial sensory complex" + "t-cell receptor-associated transmembrane adapter 1 measurement" "level of oxysterol-binding protein-related protein 9 in blood serum" "threonine" + "dysplastic oral keratinocyte" "mRNA turnover protein 4" - "iPS-11a" "Impaired epinephrine-induced platelet aggregation" "eye" + "iPS-11a" "tooth agenesis, selective, 4" "SK-N-DZ" "ADP-ribosylation factor-like protein 3 measurement" @@ -51728,8 +51728,8 @@ "thermal burn"@en "congenital hypotrichosis with juvenile macular dystrophy" "cataract 33" - "McCune-Albright syndrome" "lauroylcarnitine measurement" + "McCune-Albright syndrome" "level of brorin in blood serum" "deoxynucleoside triphosphate triphosphohydrolase SAMHD1" "Toxic Nodular Goiter" @@ -51752,8 +51752,8 @@ "retinal cone cell" "calcineurin B homologous protein 3 measurement" "choroid neoplasm" - "ventricular fibrillation" "CD5 measurement" + "ventricular fibrillation" "GM17209" "Emiliania huxleyi CCMP1516" "Abdominal pain" @@ -51779,22 +51779,22 @@ "polyglucosan body myopathy 1 with or without immunodeficiency" "level of ankyrin repeat and MYND domain-containing protein 2 in blood serum" "Enterococcus faecalis OG1RF" - "obsolete_anotia" "obsolete_familial isolated hyperparathyroidism" + "obsolete_anotia" "lissencephaly 9 with complex brainstem malformation" "5-hydroxytryptamine receptor 6" "obsolete_X-linked intellectual disability, Armfield type" "obsolete_genetic macular dystrophy" + "single cell library information" "Cerebrorenodigital syndrome" "dilated cardiomyopathy 1E" "ketoconazole" "alpha-actinin-4" - "single cell library information" "idiopathic CD4 lymphocytopenia" "level of procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 in blood serum" "V-set and transmembrane domain-containing protein 1" - "liver fibrosis measurement"@en "injury design" + "liver fibrosis measurement"@en "childhood aggressive behaviour measurement" "obsolete_isolated congenital digital clubbing" "ceroid lipofuscinosis, neuronal, 6B (Kufs type)" @@ -51830,8 +51830,8 @@ "X-11787 measurement" "obsolete_rhombomere 2" "blood N(1)-acetylspermidine measurement" - "lymphatic malformation 5" "Testicular Sclerosing Sertoli Cell Tumor" + "lymphatic malformation 5" "octadecanoids measurement" "Clostridium sporogenes" "congenital heart defects, multiple types, 7" @@ -51848,9 +51848,9 @@ "obsolete_Progressive myoclonic epilepsy type 5" "familial hypercholesterolemia" "sensorineural hearing loss-early graying-essential tremor syndrome" - "obsolete_beta-thalassemia and related diseases" "acute myeloid leukemia, t(7;12)(q36;p13)" "Locusta migratoria manilensis" + "obsolete_beta-thalassemia and related diseases" "fibroepithelial polyp of the anus" "level of segment polarity protein dishevelled homolog DVL-2 in blood serum" "P-Selectin measurement" @@ -51940,8 +51940,8 @@ "kidney hemangiopericytoma" "Methylmalonic acidemia without homocystinuria" "obsolete_ring chromosome 10" - "X-04499--3,4-dihydroxybutyrate measurement" "erlin-1" + "X-04499--3,4-dihydroxybutyrate measurement" "OVCA433" "nicotine" "level of solute carrier family 35 member G2 in blood serum" @@ -51951,8 +51951,8 @@ "obsolete_orofacial clefting syndrome" "maturity-onset diabetes of the young type 4" "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome" - "glyoxylate reductase/hydroxypyruvate reductase" "obsolete_late infantile neuronal ceroid lipofuscinosis" + "glyoxylate reductase/hydroxypyruvate reductase" "SNB19" "cholestasis, progressive familial intrahepatic, 9" "KYSE-270" @@ -51993,9 +51993,9 @@ "level of neurensin-1 in blood serum" "Kapur-Toriello syndrome" "obsolete_Muir-Torre syndrome" - "mercury poisoning" "obsolete_meningioma" "prostate cancer" + "mercury poisoning" "pilodental dysplasia-refractive errors syndrome" "carcinoembryonic antigen-related cell adhesion molecule 19" "allergic sensitization measurement" @@ -52012,8 +52012,8 @@ "cardiac troponin I measurement" "isolated anhidrosis with normal sweat glands" "semaphorin-6D" - "PL45" "Colon Inflammatory Polyp" + "PL45" "pathological complete response" "Capture-HiC" "UCSF4" @@ -52090,8 +52090,8 @@ "obsolete_Biemond syndrome type 2" "Abnormal circulating serine concentration" "Abnormal subcutaneous fat tissue distribution" - "inborn disorder of phenylalanine and tyrosine metabolism" "obsolete_severe intellectual disability-progressive spastic diplegia syndrome" + "inborn disorder of phenylalanine and tyrosine metabolism" "AN1-type zinc finger protein 5" "partial deletion of the short arm of chromosome 19" "hypomagnesemia, seizures, and intellectual disability 2" @@ -52162,8 +52162,8 @@ "complex I intermediate-associated protein 30, mitochondrial" "congenital secretory chloride diarrhea 1" "Slurred speech" - "obsolete_46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" "Gray matter heterotopia" + "obsolete_46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" "obsolete_arachnoid cyst" "Anhidrosis" "merkel cell virus seropositivity"@en @@ -52207,9 +52207,9 @@ "malignant pleural solitary fibrous tumor" "central neurocytoma" "Osteopetrosis" + "Calvarial doughnut lesions - bone fragility" "isolated noncompaction of the ventricular myocardium" "DnaJ homolog subfamily C member 30 measurement" - "Calvarial doughnut lesions - bone fragility" "complement factor H-related protein 5 measurement" "level of protein-tyrosine sulfotransferase 2 in blood serum" "prostate derived cell line" @@ -52282,8 +52282,8 @@ "thyroid cancer, nonmedullary, 1" "lupus erythematosus" "histone-lysine N-methyltransferase EZH2" - "Lactobacillus panis" "obsolete_isolated brachycephaly" + "Lactobacillus panis" "Retinal hemorrhage" "obsolete_subepithelial mucinous corneal dystrophy" "African iron overload" @@ -52313,19 +52313,19 @@ "level of protein Jumonji in blood serum" "bronchial disease" "CD244 measurement" - "obsolete_unknown leukodystrophy" - "hand dermatosis" "level of beta-1,4-galactosyltransferase 2 in blood serum" + "hand dermatosis" + "obsolete_unknown leukodystrophy" "level of glutamate--cysteine ligase regulatory subunit in blood serum" "Hypocrea virens" "hyaluronan and proteoglycan link protein 4" "level of gem-associated protein 7 in blood serum" "3-Indolepropionic acid to Phenylpyruvic acid ratio" - "Syndromic developmental defect of the eye" "Methanobrevibacter smithii ATCC 35061" "neuroligin-1" - "H157" + "Syndromic developmental defect of the eye" "isovaleric acidemia" + "H157" "methylation profiling" "type III endosome membrane protein TEMP" "5-methyluridine (ribothymidine) measurement"@en @@ -52423,8 +52423,8 @@ "mesomelic dysplasia, Kantaputra type" "licoagrodin measurement" "level of tryptophan--tRNA ligase, cytoplasmic in blood serum" - "asphyxia" "Visium Spatial Gene Expression" + "asphyxia" "sphingomyelin 24:0" "sorting and assembly machinery component 50" "X-13435 measurement" @@ -52478,8 +52478,8 @@ "acne inversa, familial, 3" "oxidized low-density lipoprotein receptor 1 measurement" "Hypofibrinogenemia" - "mucopolysaccharidosis type 6" "peritoneal neoplasm" + "mucopolysaccharidosis type 6" "CREB-binding protein" "obsolete_Sanfilippo syndrome type B" "level of NIF3-like protein 1 in blood serum" @@ -52519,27 +52519,27 @@ "obsolete Okamoto syndrome" "GM17733" "level of exosome complex component RRP40 in blood serum" - "Central polydactyly of toes, bilateral" "cryptomicrotia-brachydactyly-excess fingertip arch syndrome" - "beta-tocopherol measurement" - "behavioural inhibitory control measurement" + "Central polydactyly of toes, bilateral" "N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase" "mediastinal mesenchymal tumor" "pre-mRNA-processing factor 19" "embryonic day 13.5" + "behavioural inhibitory control measurement" "obsolete congenital cornea plana" "presumptive neural plate" - "ATP synthase subunit O; mitochondrial measurement" + "beta-tocopherol measurement" "tumor necrosis factor receptor superfamily member 1B measurement"@en "Microsporum distortum" "obsolete_lateral ethmoid" + "ATP synthase subunit O; mitochondrial measurement" "CCL15 measurement" "meristematic apical cell" "mitochondrial-processing peptidase subunit alpha" "Bacteroides fragilis NCTC 9343" "severe combined immunodeficiency due to DCLRE1C deficiency" - "calcium-binding protein 8 measurement" "3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia" + "calcium-binding protein 8 measurement" "congenital factor XIII deficiency" "lung endothelial cell" "obsolete_tall stature-intellectual disability-facial dysmorphism syndrome" @@ -52585,8 +52585,8 @@ "Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities" "ectrodactyly and ectodermal dysplasia without cleft lip/palate" "level of semaphorin-3B in blood serum" - "EF-hand domain-containing protein D1" "Familial partial lipodystrophy due to AKT2 mutations" + "EF-hand domain-containing protein D1" "acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive" "Prolonged PR interval" "level of transcription factor SOX-6 in blood serum" @@ -52606,8 +52606,8 @@ "trait in response to escitalopram" "choroid epithelioid cell melanoma" "age of onset of essential hypertension" - "level of chromodomain-helicase-DNA-binding protein 1-like in blood serum" "collective leaf structure" + "level of chromodomain-helicase-DNA-binding protein 1-like in blood serum" "level of neural cell adhesion molecule 1 in blood serum" "pVAC-Seq" "fungal infectious disease" @@ -52628,8 +52628,8 @@ "ejection fraction measurement" "level of transaldolase in blood serum" "renal artery" - "obsolete_hereditary cryohydrocytosis with reduced stomatin" "Pediculus humanus corporis infestation" + "obsolete_hereditary cryohydrocytosis with reduced stomatin" "obsolete_17q23.1q23.2 microdeletion syndrome" "mannonate measurement" "fibrosarcomatous osteosarcoma" @@ -52666,7 +52666,6 @@ "anorectal malformation" "aldo-keto reductase family 1 member A1" "extravillous trophoblast" - "obsolete_muscle-eye-brain disease" "obsolete_dermatofibrosarcoma protuberans" "WI38" "maturity-onset diabetes of the young type 6" @@ -52678,6 +52677,7 @@ "obsolete_polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" "translational bias design" "monosomy 7 myelodysplasia and leukemia syndrome 2" + "obsolete_muscle-eye-brain disease" "X-11792 measurement" "SC3-seq" "Vesicular stomatitis Indiana virus" @@ -52698,8 +52698,8 @@ "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12" "129P1/ReJ" "level of PR domain zinc finger protein 4 in blood serum" - "dicrocoeliasis" "triacylglycerol 52:2 measurement"@en + "dicrocoeliasis" "diastolic blood pressure change measurement" "obsolete_optic disc" "pleckstrin homology domain-containing family A member 7" @@ -52712,18 +52712,18 @@ "N-acetyl-L-aspartate(2-)" "amelia of upper limb, unilateral" "Ptosis - upper ocular movement limitation - absence of lacrimal punctum" - "obsolete_T-B+ severe combined immunodeficiency due to CD45 deficiency" "small ubiquitin-related modifier 2" "carcinoembryonic antigen-related cell adhesion molecule 20" "Rabson-Mendenhall syndrome" "Hemoglobin SC Disease" + "obsolete_T-B+ severe combined immunodeficiency due to CD45 deficiency" "Monteggia's fracture" "dynactin-associated protein measurement" + "toothache" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" "level of protocadherin gamma-A12 in blood serum" "acute myeloid leukemia, t(11;15)(p15;q35)" - "toothache" "hereditary spastic paraplegia 48" "protein mago nashi" "isolated aniridia" @@ -52737,8 +52737,8 @@ "CaptureSeq" "obsolete_Adams-Oliver syndrome" "cyclophosphamide" - "CS57646" "7-methylxanthine" + "CS57646" "superior parietal cortex volume measurement"@en "Oomycetes" "bilateral generalized polymicrogyria" @@ -52783,10 +52783,10 @@ "obsolete_common variable immunodeficiency" "scalp dermatosis" "severe hemophilia B" - "level of integrator complex subunit 3 in blood serum" "encephalopathy, acute, infection-induced" "obsolete_pericardial cell primordium" "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features" + "level of integrator complex subunit 3 in blood serum" "PC12h" "autonomic nervous system neoplasm" "bubonic plague" @@ -52946,8 +52946,8 @@ "obsolete_disorder of glycolysis" "drug" "obsolete_FGFR3-related chondrodysplasia" - "NCI-H2795" "level of PDZ and LIM domain protein 1 in blood serum" + "NCI-H2795" "Progressive distal muscular atrophy" "Saccharomyces bayanus x Saccharomyces cerevisiae" "protein S100-A2 measurement" @@ -52979,9 +52979,9 @@ "UDP-N-acetylhexosamine pyrophosphorylase measurement" "neonatal Marfan syndrome" "t-cell surface glycoprotein CD3 gamma chain measurement" + "EFM-192A" "level of UPF0606 protein KIAA1549L (human) in blood serum" "level of osteoclast-stimulating factor 1 in blood serum" - "EFM-192A" "acquired ataxia" "X-23276 measurement" "gallbladder melanoma" @@ -53087,8 +53087,8 @@ "submandibular adenitis" "obsolete_partial deletion of chromosome 19" "obsolete_Cronkhite-Canada syndrome" - "Trilogy of Fallot" "protein sprouty homolog 1 measurement" + "Trilogy of Fallot" "urine specific gravity measurement" "bacillus seropositivity" "great vessel cancer" @@ -53220,8 +53220,8 @@ "addictive behaviour" "obsolete congenital absence/hypoplasia of fingers excluding thumb" "obsolete_autosomal recessive complex spastic paraplegia" - "phospholipids in medium VLDL measurement" "lens placode" + "phospholipids in medium VLDL measurement" "combined immunodeficiency due to STIM1 deficiency" "developmental and epileptic encephalopathy, 43" "carotid artery mean blood pressure measurement" @@ -53238,8 +53238,8 @@ "clear cell chondrosarcoma" "prenylcysteine oxidase 1" "gastric teratoma" - "midregional pro atrial natriuretic peptide measurement" "embryonic day 14.5" + "midregional pro atrial natriuretic peptide measurement" "hyaline body myopathy" "presumptive paraxial mesoderm" "ascorbic acid 2-sulfate measurement" @@ -53252,8 +53252,8 @@ "circadian rhythm" "extra-ocular muscle" "congenital analbuminemia" - "neuroendocrine disorder" "glycoprotein" + "neuroendocrine disorder" "immature reticulocyte measurement" "crystal arthropathy" "SLAM family member 9" @@ -53315,9 +53315,9 @@ "congenital factor XII deficiency" "level of speriolin-like protein in blood serum" "obsolete_hereditary coproporphyria" + "level of urotensin-2 in blood serum" "obsolete_hyperprolinemia type 1" "interleukin-6 receptor subunit alpha measurement" - "level of urotensin-2 in blood serum" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2" "T-box transcription factor TBX3" "obsolete_embryonic gastric caecum" @@ -53419,8 +53419,8 @@ "level of Phosphatidylcholine (15:0_18:2) in blood serum" "L-Aspartic acid measurement" "immunoproliferative small intestinal disease" - "EF-hand domain-containing protein D2" "apolipoprotein A 1 change measurement" + "EF-hand domain-containing protein D2" "level of protocadherin gamma-A2 in blood serum" "C1Q deficiency" "carcinosarcoma of the corpus uteri" @@ -53469,8 +53469,8 @@ "Macaca nemestrina" "protein KTI12" "Second degree atrioventricular block" - "urinary tract obstruction" "obsolete_Ehlers-Danlos syndrome, hypermobility type" + "urinary tract obstruction" "Hypotrichosis with juvenile macular degeneration" "scleredema adultorum" "moderately severe hemophilia B" @@ -53481,8 +53481,8 @@ "pyruvate carboxylase deficiency, infantile form" "kidney cancer" "obsolete_antecubital pterygium syndrome" - "OVKATE" "level of SAM domain-containing protein SAMSN-1 in blood serum" + "OVKATE" "Acromicric dysplasia" "chromosome 18 mosaic monosomy" "Familial progressive cardiac conduction defect" @@ -53500,6 +53500,7 @@ "level of CWF19-like protein 1 in blood serum" "autism, susceptibility to, 20" "level of sorbitol dehydrogenase in blood serum" + "diffuse midline glioma, H3 K27M-mutant" "obsolete_ischio-vertebral syndrome" "obsolete_androgen insensitivity syndrome" "heme oxygenase 1" @@ -53515,9 +53516,9 @@ "disorder of mineral absorption and transport" "LAPC-4" "programmed cell death protein 4" - "obsolete_vitamin B12-unresponsive methylmalonic acidemia type mut-" "level of Rab GDP dissociation inhibitor alpha in blood serum" "body height" + "obsolete_vitamin B12-unresponsive methylmalonic acidemia type mut-" "obsolete_CHIME syndrome" "insect ventral epidermis primordium" "growth delay due to insulin-like growth factor type 1 deficiency" @@ -53584,10 +53585,10 @@ "Geospiza fortis" "Proximal lower limb amyotrophy" "alive in complete remission" - "moesin measurement" + "obsolete_hemoglobinopathy Toms River" "CDK5 and ABL1 enzyme substrate 2" "T-helper 1 cell" - "obsolete_hemoglobinopathy Toms River" + "moesin measurement" "trait in response to platinum" "Pro-Ala" "obsolete_partial monosomy of the short arm of chromosome 20" @@ -53650,8 +53651,8 @@ "coenzyme q10 deficiency, primary, 9" "Polycystic Kidney Disease" "ADP-ribosylation factor-like protein 3" - "obsolete_Frank-Ter Haar syndrome" "EFM-192B" + "obsolete_Frank-Ter Haar syndrome" "X-23583 measurement" "Neurogenic arthrogryposis multiplex congenita" "hereditary spastic paraplegia 18" @@ -53704,8 +53705,8 @@ "SHC-transforming protein 2" "blood 3,4-dihydroxybutyrate measurement" "GM17817" - "pristane" "calcitriol measurement" + "pristane" "3M syndrome" "obsolete_Fabry disease" "probable methyltransferase-like protein 24" @@ -53781,9 +53782,9 @@ "level of Phosphatidylcholine (18:0_22:5) in blood serum" "level of TBC1 domain family member 20 in blood serum" "ribose-5-phosphate isomerase" + "Genetic epidermal disorder" "assay"@en "assay" - "Genetic epidermal disorder" "level of agrin in blood serum" "level of sperm-associated antigen 7 in blood serum" "gremlin-2" @@ -53807,10 +53808,10 @@ "hTERT-HM" "immature platelet count" "level of cysteine-rich protein 2 in blood serum" + "obsolete_ring chromosome 7" "sulfide:quinone oxidoreductase activity" "chronic maxillary sinusitis" "brachydactyly of toes, bilateral" - "obsolete_ring chromosome 7" "transcription elongation factor A protein-like 1" "epithelial cell of pancreas" "keratocan" @@ -53891,9 +53892,9 @@ "level of V-set and immunoglobulin domain-containing protein 2 in blood serum" "obsolete_Heinz body anemia" "delusional disorder" + "primary parathyroid hyperplasia" "level of exosome complex component RRP43 in blood serum" "Abnormality of urine homeostasis" - "primary parathyroid hyperplasia" "F1" "endophthalmitis" "cholesterol in chylomicrons and extremely large VLDL measurement " @@ -53916,8 +53917,8 @@ "BICD family-like cargo adapter 1" "cutaneous melanoma" "intraocular pressure measurement" - "obsolete_Primary myoclonus" "level of importin subunit alpha-5 in blood serum" + "obsolete_Primary myoclonus" "obsolete_Banki syndrome" "obsolete_autosomal recessive pure spastic paraplegia" "level of valacyclovir hydrolase in blood serum" @@ -53933,8 +53934,8 @@ "obsolete_hypochord" "erythrose measurement" "obsolete_Rothmund-Thomson syndrome" - "obsolete_Melhem-Fahl syndrome" "taurolithocholic acid sulfate" + "obsolete_Melhem-Fahl syndrome" "electrocardiogram repolarisation abnormality"@en "obsolete familial mesial temporal lobe epilepsy with febrile seizures" "head mesenchyme" @@ -53946,8 +53947,8 @@ "lissencephaly type 1 due to doublecortin gene mutation" "obsolete_developmental and speech delay due to SOX5 deficiency" "isochromosomy Yp" - "hereditary thrombocytopenia with normal platelets" "Ovarian Serous Adenofibroma" + "hereditary thrombocytopenia with normal platelets" "Prader-Willi-like syndrome due to point mutation" "Vogt-Koyanagi-Harada disease" "protein FAM171A1" @@ -53974,9 +53975,9 @@ "sex-determining region Y protein" "obsolete hair defect-photosensitivity-intellectual disability syndrome" "melleolide M measurement" - "interleukin-6 receptor subunit beta measurement" "bathocuproine disulfonic acid" "Brachycephaly" + "interleukin-6 receptor subunit beta measurement" "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3" "histone deacetylase complex subunit SAP18" "Endocardial fibrosis" @@ -53999,33 +54000,33 @@ "transcription factor ATOH1" "type 1 diabetes mellitus 20" "hyperthyroxinemia" - "RNA-seq of non coding RNA from single cells" "complement C1q and tumor necrosis factor-related protein 9A measurement" - "paracetamol sulfate" + "RNA-seq of non coding RNA from single cells" "colorectal tubulovillous adenoma" + "paracetamol sulfate" "Cervical hypertrichosis - peripheral neuropathy" "level of zinc finger protein with KRAB and SCAN domains 7 in blood serum" "Central Nervous System Anaplastic Large Cell Lymphoma" "parathyroid hormone-related protein measurement" - "level of Phosphatidylcholine (O-18:2_20:4) in blood serum" "suppurative otitis media" + "level of Phosphatidylcholine (O-18:2_20:4) in blood serum" "leukocyte immunoglobulin-like receptor subfamily B member 4" "level of transcriptional enhancer factor TEF-3 in blood serum" "level of urotensin-2B in blood serum" "GM17795" "Intellectual disability - obesity - brain malformations - facial dysmorphism" - "level of ubiquitin-conjugating enzyme E2 J1 in blood serum" "obsolete_autosomal dominant popliteal pterygium syndrome" + "level of ubiquitin-conjugating enzyme E2 J1 in blood serum" "aldo-keto reductase family 1 member B10" "obsolete_Neu-Laxova syndrome" "CE(14:1(9Z))" "Daudi" "benign neoplasm of minor salivary gland" "obsolete_autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" - "Autosomal recessive spastic paraplegia type 75" "ethylmalonic encephalopathy" "EBC-1" "SNU182" + "Autosomal recessive spastic paraplegia type 75" "ankyrin repeat domain-containing protein 27 measurement" "glypican-1" "familial isolated arrhythmogenic ventricular dysplasia, right dominant form" @@ -54065,12 +54066,12 @@ "Lethal arthrogryposis - anterior horn cell disease" "dyskeratosis congenita, autosomal dominant 2" "obsolete_metabolite" - "B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio" "G0/G1 switch protein 2" "malignant teratoma" "espin" "embryonic day 15.5" "Ziegler-Huang syndrome" + "B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio" "Geobacter sulfurreducens PCA" "Hyperphenylalaninemia" "placenta growth factor measurement"@en @@ -54103,8 +54104,8 @@ "fasting C-peptide measurement" "ITV" "level of dynein light chain roadblock-type 2 in blood serum" - "neurofilament light polypeptide" "lignoceroylcarnitine (C24) measurement" + "neurofilament light polypeptide" "field study" "obsolete_childhood-onset epilepsy syndrome" "Nicotiana benthamiana" @@ -54125,19 +54126,19 @@ "carbohydrate sulfotransferase 14" "atenolol" "obsolete_inherited ichthyosis" - "benign basal cell neoplasm" "optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome" + "benign basal cell neoplasm" "level of semaphorin-3G in blood serum" "hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities" "low-level copy number gain" - "level of DnaJ homolog subfamily B member 3 in blood serum" "obsolete_autosomal dominant trichoodontoonychodysplasia-syndactyly" + "level of DnaJ homolog subfamily B member 3 in blood serum" "stanniocalcin-2 measurement" "peroxidasin" "peptidyl-prolyl cis-trans isomerase NIMA-interacting 4" - "right ventricular function"@en "platelet larger cell ratio" "renal agenesis, unilateral" + "right ventricular function"@en "acute endophthalmitis" "obsolete_congenital muscular dystrophy with intellectual disability and severe epilepsy" "negative regulation of wound healing" @@ -54282,11 +54283,11 @@ "level of ADP-ribosylation factor-like protein 11 in blood serum" "obsolete_parotid gland" "obsolete_Naegeli-Franceschetti-Jadassohn syndrome" - "pappalysin‐1 measurement"@en "carbohydrate sulfotransferase 14 measurement" + "pappalysin‐1 measurement"@en "secreted frizzled-related protein 1 measurement" - "scrotal carcinoma" "obsolete_response to high-dose melphalan" + "scrotal carcinoma" "basal endosperm transfer layer" "cobalamin transport" "Macaca radiata" @@ -54321,9 +54322,9 @@ "brachial nerve plexus" "blood phosphate measurement" "Usmani-Riazuddin syndrome, autosomal dominant" - "obsolete_type 11 collagen-related bone disorder" "level of CYFIP-related Rac1 interactor A in blood serum" "X-14056 measurement" + "obsolete_type 11 collagen-related bone disorder" "neuroaspergillosis" "obsolete_partial duplication of the short arm of chromosome 16" "adenovirus renal infection" @@ -54398,10 +54399,10 @@ "2q33.1 microdeletion syndrome" "level of hematopoietic lineage cell-specific protein in blood serum" "bactericidal permeability-increasing protein measurement" - "obsolete_microcephalic primordial dwarfism due to ZNF335 deficiency" "lysophosphatidylcholine acyl C16:0 measurement" "level of basic leucine zipper transcriptional factor ATF-like 3 in blood serum" "acne inversa, familial, 1" + "obsolete_microcephalic primordial dwarfism due to ZNF335 deficiency" "hemimegalencephaly" "injury" "Fusion-seq" @@ -54449,11 +54450,11 @@ "Hemoglobin A2 to Total Hemoglobin Ratio Measurement" "Ocular Melanoma" "Bifidobacterium longum" - "childhood brainstem astrocytoma" "bacteroidales seropositivity" - "Abnormality of the dentition" - "Kn-0" "protein transport protein Sec61 subunit gamma measurement" + "childhood brainstem astrocytoma" + "Kn-0" + "Abnormality of the dentition" "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" "leukocyte esterase measurement" "partial deletion of the long arm of chromosome X" @@ -54467,8 +54468,8 @@ "obsolete_Oligodontia" "level of sperm protein associated with the nucleus on the X chromosome A in blood serum" "obsolete_carbohydrate metabolic disorder" - "SCC-3" "ubiquitin carboxyl-terminal hydrolase 8" + "SCC-3" "obsolete_familial expansile osteolysis" "persian gulf syndrome" "level of 5'(3')-deoxyribonucleotidase, cytosolic type in blood serum" @@ -54513,10 +54514,10 @@ "integrin alpha-I: beta-1 complex measurement" "hemihyperplasia-multiple lipomatosis syndrome" "obsolete_autosomal recessive lymphoproliferative disease" + "syphilitic aortitis" "GM17738" "anti-SARS-CoV-2 IgG measurement"@en "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" - "syphilitic aortitis" "Hepatic necrosis" "vitamin D" "Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type" @@ -54548,16 +54549,16 @@ "zebra body myopathy" "proline-rich AKT1 substrate 1" "obsolete_Megacystis-microcolon-intestinal hypoperistalsis syndrome" - "Hypomyelination neuropathy - arthrogryposis" "X-linked Mendelian susceptibility to mycobacterial diseases" "pemphigoid gestationis" + "Hypomyelination neuropathy - arthrogryposis" "4-acetamidobutanoate-to-X-03056--N-[3-(2-Oxopyrrolidin-1-yl)propyl]acetamide ratio" "mixed sex population" "craniosynostosis syndrome, autosomal recessive" "NKG2-F type II integral membrane protein" - "obsolete_hypomyelination with brain stem and spinal cord involvement and leg spasticity" "obsolete_partial duplication of the long arm of chromosome 1" "fallopian tube adenocarcinoma" + "obsolete_hypomyelination with brain stem and spinal cord involvement and leg spasticity" "Bardet-Biedl syndrome 9" "CB4857" "NOD.B10" @@ -54579,8 +54580,8 @@ "Abnormality of the adrenal glands" "pulmonary subvalvular stenosis" "pseudohypoaldosteronism type 2" - "Enterobacteriaceae Infections" "BAC1.2F5" + "Enterobacteriaceae Infections" "level of dorsal root ganglia homeobox protein in blood serum" "PALB2-related cancer predisposition" "level of muscleblind-like protein 2 in blood serum" @@ -54631,8 +54632,8 @@ "X-linked intellectual disability-acromegaly-hyperactivity syndrome" "array control buffer" "Blindness-scoliosis-arachnodactyly syndrome" - "monocyte measurement" "muscleblind-like protein 1" + "monocyte measurement" "acute endometritis" "Komagataella pastoris" "level of G protein-coupled receptor kinase 5 in blood serum" @@ -54710,14 +54711,14 @@ "mulibrey nanism" "cyclin-dependent kinase 4 inhibitor B" "leukocyte immunoglobulin-like receptor subfamily B member 5" + "intersectin-1 measurement" + "fibula fracture" "cyclazosin hydrochloride" "Onthophagus nigriventris" - "intersectin-1 measurement" "level of cytoglobin in blood serum" "benign neoplasm of spleen" - "fibula fracture" - "ovarian hyperstimulation syndrome" "Chlamydia pneumoniae seropositivity" + "ovarian hyperstimulation syndrome" "caspase-5" "syntaxin-2" "obsolete_pigmented paravenous retinochoroidal atrophy" @@ -54769,10 +54770,10 @@ "testosterone 17-beta-dehydrogenase (NADP+) activity" "Noonan syndrome and Noonan-related syndrome" "Non-Functioning Adrenal Cortex Adenoma" - "Therapy-Related Myeloid Neoplasm" "gastrula shield" "Bannayan-Riley-Ruvalcaba syndrome" "paraoxonase-1 measurement"@en + "Therapy-Related Myeloid Neoplasm" "hearing loss, autosomal dominant 76" "Fanconi anemia complementation group C" "GM11994" @@ -54813,8 +54814,8 @@ "cadherin-15 measurement" "Diminished ability to concentrate" "level of lysyl oxidase homolog 2 in blood serum" - "olecranon bursitis" "obsolete_autosomal recessive distal osteolysis syndrome" + "olecranon bursitis" "chronic endophthalmitis" "eosinophil peroxidase deficiency" "hypoplastic left heart syndrome" @@ -54824,16 +54825,16 @@ "obsolete_nerve cell" "obsolete cerebellar malformation" "age at initiation of smoking"@en - "perineum" "level of E3 ubiquitin-protein ligase pellino homolog 2 in blood serum" + "perineum" "protocadherin beta-1 measurement" "ciliary dyskinesia, primary, 39" "obsolete_bipartite talus" "seqFISH" "Biphasic Mesothelioma" "X-10458 measurement" - "obsolete_low anorectal malformation" "cysteine-rich protein 2" + "obsolete_low anorectal malformation" "lens cortex" "3-fold embryo Ce" "obsolete_iris" @@ -54844,8 +54845,8 @@ "corpus callosum central volume measurement"@en "skull base meningioma" "Lactococcus lactis subsp. lactis Il1403" - "ATP-dependent 6-phosphofructokinase, muscle type" "obsolete_mosaic trisomy 1" + "ATP-dependent 6-phosphofructokinase, muscle type" "Ishikawa" "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation" "cardiovascular system" @@ -54878,8 +54879,8 @@ "fish eye disease" "T-box transcription factor TBX5" "Nystagmus" - "level of protein Smaug homolog 2 in blood serum" "X-06126 measurement" + "level of protein Smaug homolog 2 in blood serum" "free cholesterol in small LDL measurement " "GABAergic neuron" "level of synembryn-A in blood serum" @@ -54944,9 +54945,9 @@ "short-chain dehydrogenase/reductase 3" "Cyclo(pro-val) measurement" "RPMI 2650" - "succinate dehydrogenase assembly factor 2, mitochondrial measurement" "BRCA1 mutation carier status" "age of onset of childhood onset asthma" + "succinate dehydrogenase assembly factor 2, mitochondrial measurement" "CATCH-seq" "intellectual disability, autosomal dominant 29" "obsolete_adrenomyodystrophy" @@ -54962,17 +54963,17 @@ "scrapie" "thiopurine immunosuppressant-induced pancreatitis" "Saccharomyces bayanus" - "secretin measurement" "obsolete_syndromic lymphedema" + "secretin measurement" "START domain-containing protein 10" "PFAPA syndrome" "Abnormal cornea morphology" "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1" + "protocadherin-15 measurement" "1-eicosadienoylglycerophosphocholine measurement" "interleukin-26 (Homo sapiens)" "branched-chain-amino-acid aminotransferase, mitochondrial" "metastatic neoplasm" - "protocadherin-15 measurement" "level of Phosphatidylcholine (16:0_16:0) in blood serum" "limited phosphate treatment" "alkaline phosphatase, tissue-nonspecific isozyme" @@ -54990,12 +54991,12 @@ "fatty acid change measurement" "ICR/HaJ" "Abnormal urine sodium concentration" - "Parotid Gland Carcinoma" "hypoxia up-regulated protein 1" + "Parotid Gland Carcinoma" "obsolete_congenital absence/hypoplasia of thumb, unilateral" "unilateral focal polymicrogyria" - "Theiler stage 20" "obsolete_deafness-craniofacial syndrome" + "Theiler stage 20" "probable oxidoreductase PXDNL" "Geospiza magnirostris" "phosphate ion homeostasis" @@ -55039,8 +55040,8 @@ "NOZ"@en "biological sex" "trinucleotide repeat-containing gene 6B protein" - "level of polyphosphoinositide phosphatase in blood serum" "X-14057 measurement" + "level of polyphosphoinositide phosphatase in blood serum" "obsolete_Charcot-Marie-Tooth disease type 1E" "focal segmental glomerulosclerosis and neurodevelopmental syndrome" "trigonocephaly 2" @@ -55079,8 +55080,8 @@ "ephrin type-a receptor 10 measurement" "atelosteogenesis type II" "obsolete_formiminoglutamic aciduria" - "Pathologic fracture" "X-linked distal arthrogryposis multiplex congenita" + "Pathologic fracture" "retroperitoneal sarcoma" "MOB kinase activator 1A measurement" "Vasovagal syncope" @@ -55114,8 +55115,8 @@ "disorder of iron metabolism and transport" "aortic aneurysm, familial thoracic 7" "Distal ulnar hypoplasia" - "lymphedema-atrial septal defects-facial changes syndrome" "neuronopathy, distal hereditary motor, type 2A" + "lymphedema-atrial septal defects-facial changes syndrome" "obsolete_L-2-hydroxyglutaric aciduria" "Glycogen Storage Disease Type 2b" "level of vacuolar protein sorting-associated protein 4B in blood serum" @@ -55225,9 +55226,9 @@ "membrane-enclosed lumen" "level of gamma-glutamylcyclotransferase in blood serum" "pseudokinase FAM20A" - "uridine diphosphate galactose measurement"@en "uncultured organism" "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome" + "uridine diphosphate galactose measurement"@en "glycerophospholipid measurement" "(S)-a-amino-omega-caprolactam measurement" "Exotropia" @@ -55241,8 +55242,8 @@ "peeling skin syndrome 6" "level of calcitonin receptor in blood serum" "orofaciodigital syndrome type 12" - "macular coloboma-cleft palate-hallux valgus syndrome" "g-protein coupled receptor 26 measurement" + "macular coloboma-cleft palate-hallux valgus syndrome" "Citrobacter koseri" "femtomolar" "p-hydroxyphenylacetate measurement" @@ -55288,8 +55289,8 @@ "C57BL/6NCrl" "Crimean-Congo hemorrhagic fever virus" "phagocyte bactericidal dysfunction" - "level of calcipressin-3 in blood serum" "Hair-pulling" + "level of calcipressin-3 in blood serum" "Gollop-Wolfgang complex" "level of lysophospholipase D GDPD1 in blood serum" "immunoglobulin heavy constant gamma 4 measurement" @@ -55314,10 +55315,10 @@ "Bromus secalinus" "infantile-onset epilepsy" "protein turtle homolog A measurement" - "nitrite measurement" "Drosophila teissieri" "transmembrane protein 87B" "level of Lys-Leu in blood" + "nitrite measurement" "pseudohypoaldosteronism" "IgM short lived plasma cell" "bacteroides seropositivity" @@ -55354,10 +55355,10 @@ "level of metabotropic glutamate receptor 4 in blood serum" "CXCL10 measurement" "obsolete_intersegmental vessel" - "quinate measurement" "7q11.23 microduplication syndrome" - "RIP-Chip by array" + "quinate measurement" "intercostal muscle" + "RIP-Chip by array" "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" "ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome" "corneal endothelium" @@ -58191,13 +58192,13 @@ "arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities" "arthrogryposis multiplex congenita, distal, type 2B" "oxylipins" - "RUIJS-Aalfs syndrome" - "RJALS" "4-HPB" "Betuligenol" "Rhododendrol" "amyotrophy, thenar, of carpal origin" "CTS" + "RUIJS-Aalfs syndrome" + "RJALS" "Bet" "acidol" "Trimethylammonioacetate" @@ -58633,7 +58634,6 @@ "HFS" "hyalinosis, systemic" "infantile systemic hyalinosis (former subtype)" - "empty sella turcica" "Neurocaine" "l-Cocain" "l-cocaine" @@ -58648,6 +58648,7 @@ "beta-Cocain" "Cocain" "methyl [1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate" + "empty sella turcica" "Hopp syndrome" "DEDSM" "disorder of vestibular system" @@ -65236,10 +65237,10 @@ "cardiomyopathy, dilated, 1FF" "MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)" "MTDPS16" - "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum" "SM(18:0)" "sphingomyelin(18:0)" "SM 18:0" + "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum" "EA8" "episodic ataxia, type 8" "episodic ataxia with slurred speech" @@ -65907,8 +65908,8 @@ "[N2-[(S)-1-CARBOXY-3-PHENYLPROPYL]-L-LYSYL-L-PROLINE" "(S)-1-(N(2)-(1-carboxy-3-phenylpropyl)-L-lysyl)-L-proline" "lisinopril anhydrous" - "LIDLS" "adenoid cystic carcinoma of ethmoid sinus" + "LIDLS" "N-(L-Arginino)succinate" "N(omega)-(L-Arginino)succinate" "N-(L-arginino) succinate" @@ -66868,6 +66869,7 @@ "rare ataxia" "ataxias, cerebellar" "ataxia, cerebellar" + "globozoospermia" "N-{[(3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-isochromen-7-yl]carbonyl}-L-phenylalanine" "(R)-N-((5-chloro-3,4-dihydro-8-hydroxy-3-methyl-1-oxo-1H-2-benzopyran-7-yl)carbonyl)phenylalanine" "OTA" @@ -66875,7 +66877,6 @@ "N-(((3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-7-isochromanyl)carbonyl)-3-phenyl-L-alanine" "(2S)-2-{[(3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-2-benzopyran-7-carbonyl]amino}-3-phenylpropanoic acid" "(-)-N-((5-chloro-8-hydroxy-3-methyl-1-oxo-7-isochromanyl)carbonyl)-3-phenylalanine" - "globozoospermia" "ketoaciduria - intellectual disability - ataxia - deafness" "RICHARDS-RUNDLE syndrome" "familial ataxia-hypogonadism syndrome" @@ -69213,14 +69214,6 @@ "susceptibility to acute lymphoblastic leukaemia 3" "ALL3" "susceptibility to acute lymphoblastic leukemia 3" - "granular and lattice corneal dystrophies" - "corneal dystrophy, AVELLINO type" - "CDA" - "combined granular-lattice corneal dystrophies" - "granular corneal dystrophy, type 2" - "ACD" - "corneal dystrophy Avellino type" - "granular-lattice (Avellino) corneal dystrophy" "Kochsalz" "natrii chloridum" "Natriumchlorid" @@ -69232,6 +69225,14 @@ "NaCl" "chlorure de sodium" "table salt" + "granular and lattice corneal dystrophies" + "corneal dystrophy, AVELLINO type" + "CDA" + "combined granular-lattice corneal dystrophies" + "granular corneal dystrophy, type 2" + "ACD" + "corneal dystrophy Avellino type" + "granular-lattice (Avellino) corneal dystrophy" "androgens" "androgenes" "Androgene" @@ -77495,8 +77496,8 @@ "fetal placenta" "villous chorion" "placental villus" - "chorionic villus" "placental villi" + "chorionic villus" "chorionic villous" "villous of placenta" "embryonic placenta" @@ -79557,10 +79558,10 @@ "spastic paraplegia 31" "spastic paraplegia 31, autosomal dominant" "Cervical Intraepithelial Neoplasia" + "Intraepithelial Neoplasm, Cervical" "Intraepithelial Neoplasia of the Cervix" "Intraepithelial Neoplasia of Cervix" "Cervical Dysplasia" - "Intraepithelial Neoplasm, Cervical" "Intraepithelial Neoplasia of Cervix Uteri" "Intraepithelial Neoplasms, Cervical" "Uterine Cervix Intraepithelial Neoplasia" @@ -80588,15 +80589,15 @@ "glycosuria, renal" "GLYS" "RTPS2" + "MDDGC12" + "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" + "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" "dystrophia myotonica 2" "myotonic dystrophy 2" "myotonic myopathy, proximal" "PROMM" "dystrophia myotonica type 2" "DM2" - "MDDGC12" - "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" - "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" "sulfanylpurines" "mercaptopurines" "thiopurines" @@ -82338,13 +82339,13 @@ "primary coenzyme Q10 deficiency 7" "cochleosaccular degeneration" "late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration" + "Blood coagulation disorder" "hyperglycinemia, transient neonatal" "hyperglycinemia, Nonketotic" "GCE" "hyperglycinemia nonketotic" "Glycine synthase deficiency" "GLYCINE encephalopathy" - "Blood coagulation disorder" "Transverse Myelopathy Syndrome" "Transverse Myelitis" "Myelitis, Transverse" @@ -83711,10 +83712,10 @@ "diabetes mellitus, transient neonatal" "diabetes mellitus, 6q24-related transient neonatal" "chromosome 6-associated transient diabetes mellitus" - "maxillary cancer" - "upper jaw bone cancer" "anes" "alopecia, neurologic defects, and endocrinopathy syndrome" + "maxillary cancer" + "upper jaw bone cancer" "xeroderma pigmentosum, complementation group E" "XPe" "xeroderma pigmentosum 5" @@ -84005,16 +84006,16 @@ "end bud" "tail bud mesenchyme" "Cerebrovascular accidents" - "adaptation reaction" - "disorder, reactive" - "disorders, adjustment" - "disorder, adjustment" - "disorders, reactive" "ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia" "hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia" "hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia" "hypohidrotic ectodermal dysplasia with hypothyroidism" "ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia" + "adaptation reaction" + "disorder, reactive" + "disorders, adjustment" + "disorder, adjustment" + "disorders, reactive" "Tricho-odonto-onychodysplasia with syndactyly" "ectodermal dysplasia with corkscrew hairs" "Trueb Burg Bottani syndrome" @@ -84528,13 +84529,13 @@ "Guadalajara camptodactyly syndrome type II" "diabetes mellitus, insulin-dependent, 10" "diabetes, mellitus, insulin-dependent, susceptibility to, 10" + "BNAH2" "hypocalciuric hypercalcemia, familial, type II" "hypercalcemia, familial benign type 2" "familial benign hypercalcemia, type 2" "hypocalciuric hypercalcemia, familial, type 2" "FBH2" "hypercalcemia, familial benign, type 2" - "BNAH2" "Charcot-Marie-Tooth neuropathy, dominant Intermediate D" "MPZ-related intermediate Charcot-Marie-Tooth neuropathy" "Charcot Marie Tooth disease dominant intermediate 3" @@ -86077,13 +86078,13 @@ "amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism" "amelogenesis imperfecta, type IV" "Hypoplasia of columella" + "dwarfism thanatophoric" "PNGase A" "PNGase F" "N-linked-glycopeptide-(N-acetyl-beta-D-glucosaminyl)-L-asparagine amidohydrolase activity" "N-glycanase activity" "N-oligosaccharide glycopeptidase activity" "peptide:N-glycanase" - "dwarfism thanatophoric" "Valproate sodium" "Epilim" "valproic acid sodium salt" @@ -86389,8 +86390,8 @@ "polyneuropathy intellectual disability acromicria premature menopause" "Gastrointestinal hamartomatous polyps" "COGIS" - "glomerular capillary system" "glomerular capillaries" + "glomerular capillary system" "nucleus proprius stria terminalis (bed nucleus)" "nucleus interstitialis striae terminalis" "nucleus of the stria terminalis" @@ -86932,9 +86933,9 @@ "dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome" "Endocrine system disease" "Open mouth appearance" - "thrombocyte aggregation" "IDDSFTA" "INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities" + "thrombocyte aggregation" "HIHGHH" "hypoinsulinemic hypoglycemia with hemihypertrophy" "whirler, mouse, homolog of" @@ -87321,13 +87322,13 @@ "EDSCV" "Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome" "Cardiac valvular form of Ehlers-Danlos syndrome" - "agammaglobulinemia, microcephaly, and severe dermatitis" "SMMCI syndrome" "Fused incisors" "single central maxillary incisor" "incisors fused" "incisors, Fused" "solitary MEDIAN maxillary central incisor" + "agammaglobulinemia, microcephaly, and severe dermatitis" "dystonia 26, myoclonic" "DYT26" "osteogenesis imperfecta congenita perinatal lethal form" @@ -89162,8 +89163,8 @@ "Mitchap60 disease" "leukodystrophy, hypomyelinating, 4" "susceptibility to severe influenza" - "lobuli hepatis" "lobules of liver" + "lobuli hepatis" "pronephric primordium" "pronephric mesenchyme" "pronephric bulge" @@ -90220,8 +90221,8 @@ "yolk sac tumour" "endodermal sinus tumor of the testis" "yolk sac tumor" - "yolk Sac tumour of the testis" "endodermal sinus neoplasm of testis" + "yolk Sac tumour of the testis" "yolk Sac neoplasm of testis" "yolk Sac tumor of testis" "endodermal sinus tumour of testis" @@ -90666,8 +90667,6 @@ "17beta-hydroxysteroid:NADP+ 17-oxidoreductase activity" "NADP-dependent testosterone-17beta-oxidoreductase activity" "testosterone 17beta-dehydrogenase (NADP+)" - "therapy-related myeloid neoplasms" - "TMN" "RMSS" "Riley-Smith syndrome" "Ruvalcaba-Myhre-Smith syndrome" @@ -90677,6 +90676,8 @@ "macrocephaly pseudopapilledema and multiple hemangiomas" "macrocephaly, pseudopapilledema, and multiple hemangiomata" "macrocephaly, multiple lipomas, and hemangiomata" + "therapy-related myeloid neoplasms" + "TMN" "Fanconi anemia, complementation group C" "Fanconi pancytopenia, type 3" "facc" @@ -90915,17 +90916,17 @@ "alpha-(4-methyl-1-piperazinyl)-3'-((4-(3-pyridyl)-2-pyrimidinyl)amino)-p-toluidide" "aortic dissection, familial, with or without aortic aneurysm" "AAT7" - "lymphedema, CARDIAC septal defects, and characteristic facies" - "lymphedema, atrial septal defect, and characteristic facial changes" - "autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes" - "lymphedema, atrial septal defect, and characteristic facies" - "Irons Bhan syndrome" "neuropathy, distal hereditary motor, type 2A" "spinal muscular atrophy, distal, adult, autosomal dominant, 2A" "neuronopathy, distal hereditary motor, type IIA" "HMN 2A" "HMN2A" "Charcot-Marie-Tooth disease, spinal, 2A" + "lymphedema, CARDIAC septal defects, and characteristic facies" + "lymphedema, atrial septal defect, and characteristic facial changes" + "autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes" + "lymphedema, atrial septal defect, and characteristic facies" + "Irons Bhan syndrome" "pseudoglycogenosis 2" "glycogen storage disease limited to the heart" "Antopol disease" @@ -92132,8 +92133,8 @@ "piedra, black" "black Piedras" "White piedra" - "Piedras, black" "steroid-modified tinea infection" + "Piedras, black" "piedra, White" "White Piedras" "Piedras, White" @@ -93456,8 +93457,8 @@ "trachea cancer" "cancer of trachea" "tumor of thorax" - "thorax neoplasm" "thoracic tumour" + "thorax neoplasm" "thoracic tumor" "tumour of thorax" "retinal tumor" @@ -94923,9 +94924,9 @@ "blood serum phosphoserine phosphatase amount" "Proximal 11p deletion syndrome" "11p11.2 deletion" + "brachycephaly, trichomegaly, and developmental delay" "Hyperuricaemia" "High blood uric acid level" - "brachycephaly, trichomegaly, and developmental delay" "blood serum dynein light chain Tctex-type 3 amount" "blood serum max-interacting protein 1 amount" "neurological disorder" @@ -95037,8 +95038,8 @@ "female organism reproductive organ" "female organism sex organ" "female organism reproductive structure" - "female reproductive gland/organ" "female reproductive system organ" + "female reproductive gland/organ" "female organism reproductive system organ" "reproductive system organ of female organism" "female sex organ" @@ -96360,8 +96361,8 @@ "emphysema, pulmonary" "Rapid breathing" "Pascual-Castroviejo syndrome type 2" - "O'Donnell-Pappas syndrome" "H157" + "O'Donnell-Pappas syndrome" "GM17831 cell" "Interleukin-18 levels" "IL-18 levels" @@ -96398,9 +96399,9 @@ "Dirofilaria disease or disorder" "infection by Dirofilaria" "Dirofilaria infectious disease" + "blood serum Phosphatidylethanolamine (18:0_0:0) amount" "CBA/Ca" "CBA Carter J" - "blood serum Phosphatidylethanolamine (18:0_0:0) amount" "Crane-Heise syndrome" "DC.pDC.8+" "blood serum tensin-2 amount" @@ -96701,13 +96702,13 @@ "macrophage polarization" "Congenital hypogonadotropic hypogonadism with anosmia" "Olfacto-genital pathological sequence" - "Infantile dysmorphic sialidosis" - "Sialidosis type 2" "GM17116 cell" "hypoceruloplasminemia, hereditary" "hereditary ceruloplasmin deficiency" "aceruloplasminemia" "split-pool ligation-based transcriptome sequencing" + "Infantile dysmorphic sialidosis" + "Sialidosis type 2" "TREX1 chilblain lupus" "chilblain lupus type 1" "chilblain lupus caused by mutation in TREX1" @@ -96730,8 +96731,6 @@ "cerebral creatine deficiency syndrome 2" "GAMT deficiency" "disorder of guanidinoacetate N-methyltransferase activity" - "orthopaedic nursing" - "orthopaedic care" "adenocarcinoma of penis" "Paget disease of the penis" "penis mammary Paget's disease" @@ -96742,6 +96741,8 @@ "penis Paget disease" "H929" "anterodorsal lateral line ganglion" + "orthopaedic nursing" + "orthopaedic care" "spastic ataxia type 7" "SPAX7" "autosomal dominant spastic ataxia type 7" @@ -96869,8 +96870,8 @@ "nephrotic syndrome, IIa 26" "pericardium disease or disorder" "disease or disorder of pericardium" - "pericardium disease" "disease of pericardium" + "pericardium disease" "disorder of pericardium" "blood serum alpha-(1,3)-fucosyltransferase 7 amount" "non-invasive verrucous carcinoma of the penis" @@ -96960,15 +96961,15 @@ "subarachnoid space of neuraxis" "intellectual disability, Mietens-Weber type" "congenital cataracts" - "nucleic acid library preparation" - "nucleic acid library construction" - "library construction" "MHC class II expression deficiency" "immunodeficiency by defective expression of HLA class type 2" "HLA class 2-negative SCID" "HLA class 2-negative severe combined immunodeficiency" "major histocompatibility complex class II expression deficiency" "SCID due to absent class II HLA antigens" + "nucleic acid library preparation" + "nucleic acid library construction" + "library construction" "Devic's syndrome" "Neuromyelitis Optica Spectrum Disorder" "Devic disease" @@ -97483,8 +97484,8 @@ "Neuropsychologic Tests" "Test, Aphasia" "Tests, Neuropsychological" - "Test, Neuropsychologic" "Aphasia Tests" + "Test, Neuropsychologic" "Memory for Designs Test" "tumour of femur" "femur tumour" @@ -97601,12 +97602,12 @@ "CTSC-related disorder" "blood indole-3-butyric acid amount" "blood serum calcineurin B homologous protein 3 amount" - "Monosomy 20p13" - "20p subtelomeric deletion syndrome" - "Del(20)(p13)" "Kocher-Debré-Semelaigne syndrome" "Hoffman syndrome" "blood serum platelet factor 4 variant amount" + "Monosomy 20p13" + "20p subtelomeric deletion syndrome" + "Del(20)(p13)" "Infective Endocarditis" "Endocarditides" "endocardium inflammation" @@ -97807,12 +97808,12 @@ "uterus disease" "disease of uterus" "disease or disorder of uterus" + "complement activation, lectin pathway disease" + "disorder of complement activation, lectin pathway" "NIH/3T3" "NIH-3T3" "3T3" "NIH 3T3" - "complement activation, lectin pathway disease" - "disorder of complement activation, lectin pathway" "blood serum aldo-keto reductase family 1 member C3 amount" "CardMesP2" "CardMes" @@ -98262,12 +98263,12 @@ "Luys' body" "nucleus subthalamicus" "apoplast" - "Red palms disease" - "Lane disease" "uvula palatina" "uvula of palate" "uvula" "palatine uvula" + "Red palms disease" + "Lane disease" "AIMAH2" "primary macronodular adrenal hyperplasia" "Joubert syndrome 37" @@ -98372,13 +98373,6 @@ "Pediatric Acute Megakaryoblastic Leukemia" "M7 Childhood Acute Megakaryocytic Leukemia" "Childhood Acute Megakaryocytic Leukemia" - "cardiomyopathy, hypertrophic, 17" - "cardiomyopathy, familial hypertrophic, type 17" - "hypertrophic cardiomyopathy type 17" - "JPH2 hypertrophic cardiomyopathy" - "cardiomyopathy familial hypertrophic 17" - "hypertrophic cardiomyopathy caused by mutation in JPH2" - "CMH17" "Bubalis bubalis" "Bubalus arnee" "river buffalo" @@ -98387,6 +98381,13 @@ "Bubalus arnee bubalis" "domestic water buffalo" "Bubalus bubalus" + "cardiomyopathy, hypertrophic, 17" + "cardiomyopathy, familial hypertrophic, type 17" + "hypertrophic cardiomyopathy type 17" + "JPH2 hypertrophic cardiomyopathy" + "cardiomyopathy familial hypertrophic 17" + "hypertrophic cardiomyopathy caused by mutation in JPH2" + "CMH17" "acid-labile subunit, deficiency of" "gaseous pericholecystitis" "Emphysematous Cholecystitis" @@ -98750,13 +98751,13 @@ "DES familial isolated dilated cardiomyopathy" "cardiomyopathy, dilated, type 1I" "New Zealand Obese" - "Lactobacillus plantarum strain WCFS1" - "Lactobacillus plantarum str. WCFS1" "Trouble sleeping" "Sleep disturbance" "Difficulty sleeping" "Sleep dysfunction" "Sleep disturbances" + "Lactobacillus plantarum strain WCFS1" + "Lactobacillus plantarum str. WCFS1" "end-stage liver disease" "ESLD" "end stage liver disease (decompensated liver disease)" @@ -99123,9 +99124,9 @@ "age bipolar disorder symptoms begin" "age at onset of bipolar disorder" "acne, adult" + "Anomalie du développement des yeux d'origine génétique" "Hypoplastic acetabula" "Acetabular hypoplasia" - "Anomalie du développement des yeux d'origine génétique" "Penile carcinoma" "(2S)-3,4-dihydro-2H-pyrrole-2-carboxylate" "(S)-1-pyrroline-5-carboxylate" @@ -99140,9 +99141,9 @@ "blood serum aldo-keto reductase family 1 member C4 amount" "MTDPS16B" "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)" - "blood serum syntaxin-2 amount" "tubular aggregate myopathy" "myopathy, tubular aggregate, type 1" + "blood serum syntaxin-2 amount" "Enlarged cornea" "Anterior megalophthalmos" "Increased corneal diameter" @@ -99215,8 +99216,8 @@ "extramammary Paget's disease" "zone of skin Paget disease" "cutaneous Paget's disease" - "chromosome number anomaly" "postpartum haemorrhage" + "chromosome number anomaly" "giant cell chondrodysplasia" "atelosteogenesis type 1" "AOI" @@ -99634,6 +99635,13 @@ "Bacteroides nodosus (Beveridge 1941) Mraz 1963 (Approved Lists 1980)" "chondrodysplasia lethal recessive" "Maroteaux-Stanescu-Cousin syndrome" + "pharyngeal lymphatic ring" + "Waldeyer's tonsillar ring" + "anulus lymphoideus pharyngis" + "pharyngeal lymphoid ring" + "Waldeyer's ring" + "oropharyngeal lymphoid tissue" + "Blood clot in vein" "Childhood Acute Differentiated Monocytic Leukemia (M5b)" "M5b Pediatric Acute Differentiated Monocytic Leukemia" "M5b Childhood Acute Differentiated Monocytic Leukemia" @@ -99642,17 +99650,8 @@ "Childhood Acute Monocytic Leukemia with Differentiation" "Pediatric Acute Differentiated Monocytic Leukemia" "Pediatric Acute Monocytic Leukemia with Differentiation" - "pharyngeal lymphatic ring" - "Waldeyer's tonsillar ring" - "anulus lymphoideus pharyngis" - "pharyngeal lymphoid ring" - "Waldeyer's ring" - "oropharyngeal lymphoid tissue" - "Blood clot in vein" "blood serum immunoglobulin heavy constant gamma 4 amount" "blood serum Axin-2 amount" - "2,6-dioxo-1,2,3,6-tetrahydropyrimidine-4-carboxylate" - "orotate" "Laterality, Behavioral" "Writings, Mirror" "Laterality of Motor Control" @@ -99664,6 +99663,8 @@ "Motor Control Laterality" "Writing, Mirror" "Mirror Writing" + "2,6-dioxo-1,2,3,6-tetrahydropyrimidine-4-carboxylate" + "orotate" "Larval:Days 21-29" "blood serum ribosomal protein S6 kinase alpha-6 amount" "X-linked syndromic intellectual disability caused by mutation in MED12" @@ -99788,7 +99789,6 @@ "left liver lobe" "lobus hepaticus sinister" "blood serum folate receptor gamma amount" - "neoplasm of the hair follicle" "neoplasm of hair follicle" "hair follicle neoplasm" "hair follicle tumor" @@ -99796,6 +99796,8 @@ "tumour of hair follicle" "hair follicle neoplasm (disease)" "tumor of hair follicle" + "neoplasm of the hair follicle" + "lethal hydrocephalus-cardiac malformation-dense bones syndrome" "Disorder, Blood Coagulation" "disorders, blood coagulation" "Disorders, Blood Coagulation" @@ -99817,7 +99819,6 @@ "disorder, blood coagulation" "coagulation disorder" "blood coagulation disorder" - "lethal hydrocephalus-cardiac malformation-dense bones syndrome" "ARSACS" "PathogenTest" "peripheral cells" @@ -99918,6 +99919,7 @@ "Abnormal skin structure" "Abnormal skin morphology" "Cubital region" + "Hepatolenticular degeneration" "Congenital disorder of glycosylation type 1k" "CDG-Ik" "Mannosyltransferase 1 deficiency" @@ -99928,7 +99930,6 @@ "Del(19)(p13.13)" "monosomy 19p13.13" "chromosome 19p13.13 deletion syndrome" - "Hepatolenticular degeneration" "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 amount" "response to stimulant ADHD agent therapy" "blood serum intraflagellar transport protein 20 amount" @@ -100219,6 +100220,11 @@ "neoplasm of the germ cell" "germ cell neoplasm" "blood serum methyl-CpG-binding protein 2 amount" + "basal nucleus\\]" + "Basal ganglia" + "Set of basal nuclei" + "Set of basal ganglia" + "Basal ganglia set" "T cell adult ALL" "T Acute Lymphoblastic Leukemia" "T-cell adult ALL" @@ -100239,11 +100245,6 @@ "adult precursor T lymphoblastic leukemia" "adult T-cell acute lymphoblastic leukaemia" "adult acute lymphoblastic leukaemia of T cell" - "basal nucleus\\]" - "Basal ganglia" - "Set of basal nuclei" - "Set of basal ganglia" - "Basal ganglia set" "lissencephaly type 1" "Squint" "Squint eyes" @@ -100400,8 +100401,8 @@ "Abnormality of the thumbs" "GATA2 deficiency with susceptibility to MDS/AML" "GATA2 deficiency" - "dyskeratosis congenita and related telomere biology disorder" "blood serum defensin beta 136 amount" + "dyskeratosis congenita and related telomere biology disorder" "hyperplasia, thymus" "(2R)-2-hydroxyoctadecanoate" "(R)-2-hydroxyoctadecanoate" @@ -101646,9 +101647,9 @@ "blood serum transcription factor HES-1 amount" "blood serum inositol-trisphosphate 3-kinase C amount" "Restrictive ophthalmoplegia" + "blood serum N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 amount" "WAS" "Eczema-thrombocytopenia-immunodeficiency syndrome" - "blood serum N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 amount" "PPD2" "polydactyly, preaxial type II" "triphalangeal thumb, type i" @@ -101679,8 +101680,8 @@ "ALD" "polycythemia (disease)" "erythrocythemia" - "Erythrocythemia" "polycythemia" + "Erythrocythemia" "enteropathy-associated T-cell lymphoma of small intestine" "small intestinal enteropathy-associated T-cell lymphoma" "small intestine enteropathy-associated T-cell lymphoma" @@ -101865,10 +101866,6 @@ "Macular Leprosies" "Leprosy, Tuberculoid" "Tuberculoid leprosy [type T]" - "Fukuhara syndrome" - "myoclonic epilepsy- ragged red fibers" - "Myoclonus epilepsy associated with ragged-red fibers" - "MERRF syndrome" "adenosarcoma of the body of uterus" "adenosarcoma of uterine body" "uterine corpus Mullerian adenosarcoma" @@ -101885,6 +101882,10 @@ "Isolated mitochondrial respiratory chain complex IV deficiency" "Isolated COX deficiency" "Contractures" + "Fukuhara syndrome" + "myoclonic epilepsy- ragged red fibers" + "Myoclonus epilepsy associated with ragged-red fibers" + "MERRF syndrome" "hereditary renal oncocytoma" "hereditary kidney oncocytoma" "familial renal oncocytoma" @@ -102359,8 +102360,8 @@ "blood serum TNF receptor-associated factor 4 amount" "NEDMISB" "urological diseases" - "urinary system disorder" "diseases, urologic" + "urinary system disorder" "disorder of renal system" "urinary system disease" "disease, urological" @@ -102392,11 +102393,11 @@ "Freeman-Sheldon syndrome variant" "arthrogryposis, distal, type 2B" "distal arthrogryposis type 2B" - "Ruijs-Aalfs syndrome" "median nerve entrapment" "carpal tunnel median neuropathy" "CTS - carpal tunnel syndrome" "carpal tunnel syndrome" + "Ruijs-Aalfs syndrome" "MKN-28 cell" "MKN28 cell" "MKN-28" @@ -102679,8 +102680,8 @@ "Congestive cardiac failure" "cardiac failure, congestive" "Decompensation, Heart" - "congestive heart disease" "Heart Decompensation" + "congestive heart disease" "CHF - Congestive heart failure" "Myocardial Failure" "Cardiac Failure" @@ -102976,10 +102977,10 @@ "agranular CD4+ CD56+ hematodermic neoplasm/tumor" "blastic plasmacytoid Dendritic cell neoplasm" "lymphoblastoid variant of NK-cell lymphoma" + "DEE97" "glioblastoma with a sarcomatous component" "gliosarcoma" "glioblastoma with sarcomatous component" - "DEE97" "nonsyndromic limb reduction defect" "non-syndromic limb hypoplasia" "blood serum neutrophil defensin 3 (human) amount" @@ -103455,11 +103456,11 @@ "Bardet-Biedl syndrome 15" "Bardet-Biedl syndrome caused by mutation in WDPCP" "BBS15" - "deficiency of (R)-20-hydroxysteroid dehydrogenase" "CORTRD" "11-beta-hydroxysteroid dehydrogenase deficiency type 1" "deficiency of cortisone reductase" "hyperandrogenism due to cortisone reductase deficiency" + "deficiency of (R)-20-hydroxysteroid dehydrogenase" "PCCA" "PDL1" "rare genetic myoclonus" @@ -103567,8 +103568,8 @@ "mitochondrial DNA depletion syndrome caused by mutation in FBXL4" "FBXL4 mitochondrial DNA depletion syndrome" "mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" - "regulation of mitosis" "blood serum serine protease inhibitor Kazal-type 5 amount" + "regulation of mitosis" "fracture of lower limb" "Stye of eyelid" "bladder fistula" @@ -103692,6 +103693,12 @@ "Acro-fronto-facio-nasal syndrome type 2" "Acro-fronto-facio-nasal dysostosis type 2" "Naguib-Richieri-Costa syndrome" + "ADMERF" + "Hereditary inclusion body myopathy with early respiratory failure" + "Myofibrillar myopathy with early respiratory failure" + "HMERF" + "HIBM-ERF" + "Edström Myopathy" "osteoclast-poor osteopetrosis" "mild autosomal recessive form osteopetrosis" "autosomal recessive osteopetrosis type 2" @@ -103701,12 +103708,6 @@ "OPTB2" "TNFSF11 autosomal recessive osteopetrosis" "autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11" - "ADMERF" - "Hereditary inclusion body myopathy with early respiratory failure" - "Myofibrillar myopathy with early respiratory failure" - "HMERF" - "HIBM-ERF" - "Edström Myopathy" "blood serum polyadenylate-binding protein 5 amount" "mental retardation, autosomal dominant type 8" "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1" @@ -103717,8 +103718,8 @@ "autosomal dominant mental retardation 8" "GRIN1 autosomal dominant non-syndromic intellectual disability" "HCC33" - "CME W1" "Autosomal Dominant Interstitial Kidney Disease" + "CME W1" "blood serum a disintegrin and metalloproteinase with thrombospondin motifs 6 amount" "prion disease pathway" "prion induced disorder" @@ -103822,16 +103823,16 @@ "Cleft lower jaw" "Mandibular cleft" "SPG19" - "empty sella syndrome" - "Empty Sella Syndrome" - "Empty sella syndrome" - "Empty sella syndrome (disorder)" - "empty sella" "Cocaine" "COCAINE" "(1R,2R,3S,5S)-2-(methoxycarbonyl)tropan-3-yl benzoate" "methyl (1R,2R,3S,5S)-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate" "blood serum cyclin-dependent kinase 2 amount" + "empty sella syndrome" + "Empty Sella Syndrome" + "Empty sella syndrome" + "Empty sella syndrome (disorder)" + "empty sella" "hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome" "hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome" "HOPP syndrome" @@ -103942,8 +103943,8 @@ "PDA" "Persistent arterial duct" "Thermoanaerobacter ethanolicus X514" - "blood serum hepatocyte growth factor-regulated tyrosine kinase substrate amount" "(3R,5R)-3,5-dihydroxy-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-{[(2S)-2-methylbutanoyl]oxy}-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]heptanoic acid" + "blood serum hepatocyte growth factor-regulated tyrosine kinase substrate amount" "blood serum BolA-like protein 2 amount" "blood serum cytochrome b-245 chaperone 1 amount" "blood serum insulin-like 3 amount" @@ -104009,7 +104010,6 @@ "chromoblastomycosis" "mossy foot disease" "Chromomycosis" - "L-phenylalanylglycine" "T-cell childhood acute lymphocytic leukemia" "T-cell paediatric acute lymphoblastic leukaemia" "childhood T-cell acute lymphoblastic leukemia" @@ -104027,6 +104027,7 @@ "T-cell childhood acute lymphoblastic leukemia" "childhood T-ALL" "T-cell childhood ALL" + "L-phenylalanylglycine" "HHV-8-related disorder" "arthrogryposis, impaired intellectual development, and seizures" "SLC35A3-CDG" @@ -104093,13 +104094,13 @@ "blood serum death-inducer obliterator 1 amount" "blood serum phosphoglycerate kinase 2 amount" "microcephaly-micromelia syndrome" - "blood serum (5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol amount" "thyroid gland spindle cell tumor with thymus-like differentiation" "settle" "settle tumor" "settle tumour" "spindle epithelial tumour with thymus-like differentiation tumour" "spindle epithelial tumor with thymus-like differentiation tumor" + "blood serum (5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol amount" "CD8-alpha-alpha-positive, alpha-beta intraepithelial T-lymphocyte" "CD8-alpha-alpha-positive, alpha-beta intraepithelial T lymphocyte" "CD8-alpha-alpha-positive, alpha-beta intraepithelial T-cell" @@ -104380,13 +104381,13 @@ "observed copy number variation" "muscular dystrophy-dystroglycanopathy" "CMD due to dystroglycanopathy" + "TAG 56:8" "invasive ductal carcinoma cell" "breast infiltrating ductal carcinoma cell" "IDC cell" "Stage R1 Open flower at any node on the main stem" "Arabidopsis Growth Stage 6.10" "Arabidopsis Growth Stage 5.10" - "TAG 56:8" "BBS" "Chemokine (C-C motif) ligand 4 level" "Chemokine (C-C motif) ligand 4 measurement" @@ -104459,6 +104460,9 @@ "blood serum semaphorin-4B amount" "COLO-849" "Burkholderia pseudomallei-like species" + "Ectromelia, Infectious" + "Mousepox (disorder)" + "infectious ectromelia" "Liver Fibrosis" "CL - Cirrhosis of liver" "Liver Fibroses" @@ -104480,9 +104484,6 @@ "Cirrhosis of liver NOS" "Cirrhoses, Liver" "Cirrhoses, Hepatic" - "Ectromelia, Infectious" - "Mousepox (disorder)" - "infectious ectromelia" "blood serum MORF4 family-associated protein 1-like 1 amount" "thrombocytopenia, X-linked, X-linked recessive" "thrombocytopenia, X-linked, intermittent, X-linked recessive" @@ -104815,12 +104816,12 @@ "eccrine tumors-ectodermal dysplasia" "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome" "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome" - "multiple fractures" - "fractures involving multiple body regions" "Absent/underdeveloped thighbone" "Hypoplastic to absent femora" "Absent/small thighbone" "Hypoplastic/aplastic femora" + "multiple fractures" + "fractures involving multiple body regions" "blood serum serine protease inhibitor Kazal-type 13 amount" "FPLCA" "hereditary primary cutaneous amyloidosis" @@ -105153,11 +105154,11 @@ "early-onset primary dystonia" "blood serum cilia- and flagella-associated protein 300 amount" "blood serum acyl-coenzyme A thioesterase THEM4 amount" - "Ayazi syndrome" "Ornithine aminotransferase deficiency" "Hyperornithinemia - gyrate atrophy of choroid and retina" "HOGA" "Hyperornithinemia" + "Ayazi syndrome" "GM17145 cell" "glycogenosis type IV, progressive hepatic form" "GSDIV, progressive hepatic form" @@ -105214,11 +105215,11 @@ "autosomal dominant cerebellar ataxia caused by mutation in MME" "SMARCA2-related blepharophimosis-intellectual disability syndrome" "Abnormality of tear production" - "blood serum protein Red amount" "T-cell childhood lymphoblastic lymphoma" "T lymphoblastic lymphoma" "childhood precursor T-lymphoblastic lymphoma" "childhood T lymphoblastic lymphoma" + "blood serum protein Red amount" "greasy cutworm moth" "Agrotis ipsolon" "dark sword grass moth" @@ -105470,6 +105471,7 @@ "sensory subsystem" "sense organs" "sense organ subsystem" + "DYT31" "hypereosinophilic disease" "Idiopathic Hypereosinophilic Syndrome" "Loeffler Endocarditis" @@ -105478,7 +105480,6 @@ "eosinophilic leukocytosis" "hypereosinophilic syndrome" "hypereosinophilic disorder" - "DYT31" "2-aminoadipic 2-oxoadipic aciduria" "alpha-aminoadipic and alpha-ketoadipic aciduria" "alpha-aminoadipic aciduria" @@ -105564,8 +105565,8 @@ "HSD10 deficiency" "Karpas 620" "KARPAS-620" - "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 amount" "blood serum actin-related protein 2/3 complex subunit 3 amount" + "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 amount" "level of PI(18:0_18:1) in blood serum" "blood serum PI(18:0_18:1) amount" "Trichostrongylus infectious disease" @@ -105961,13 +105962,13 @@ "medulla spinalis" "blood serum syntaxin-8 amount" "SPGF46" + "body of uterus primitive neuroectodermal tumor" "malignant peripheral neuroectodermal tumor of the corpus uteri" "malignant peripheral neuroectodermal tumour of the corpus uteri" "body of uterus primitive neuroectodermal tumour" "primitive neuroectodermal tumour of body of uterus" "peripheral neuroectodermal cancer of the corpus uteri" "primitive neuroectodermal tumor of body of uterus" - "body of uterus primitive neuroectodermal tumor" "gastric (stomach) squamous cell cancer" "stomach squamous cell carcinoma" "gastric squamous cell carcinoma" @@ -106015,10 +106016,10 @@ "AML, GF-1 Gene Mutation" "AML, GATA1 gene mutation" "AML, NF-E1 Gene Mutation" - "self reported health" "cAIHA" "cAHA" "cold AIHA" + "self reported health" "blood serum sulfotransferase 2A1 amount" "generalised lipodystrophy-progeroid features-severe intellectual disability syndrome" "generalized lipodystrophy-progeroid features-severe intellectual disability syndrome" @@ -106160,6 +106161,10 @@ "Dwarfism, Pituitary" "Lorain - Levi dwarfism" "neuroblastic tumor" + "Glycogenosis due to LAMP-2 deficiency" + "Lysosomal glycogen storage disease with normal acid maltase activity" + "Danon disease" + "GSD due to LAMP-2 deficiency" "blood serum alpha-galactosidase A amount" "Crohn's disease of colon" "Crohn's disease of large bowel" @@ -106182,10 +106187,6 @@ "Enteritis, Granulomatous" "Crohn's associated gastritis" "Ileitis, Regional" - "Glycogenosis due to LAMP-2 deficiency" - "Lysosomal glycogen storage disease with normal acid maltase activity" - "Danon disease" - "GSD due to LAMP-2 deficiency" "Diabetic Foot Ulcer" "Diabetic Feet" "memory IgM B cell" @@ -106933,12 +106934,12 @@ "up regulation of sensory perception of pain" "phenols" "Lubani-Al Saleh-Teebi syndrome" + "TAG 58:10" "chlamydia pneumonia" "Chlamydia pneumonia" "chlamydial pneumonia" "Chlamydia caused pneumonia" "viral pericarditis" - "TAG 58:10" "blood serum actin-related protein 2/3 complex subunit 5 amount" "blood serum Phosphatidylinositol (18:0_18:2) amount" "Trichuriasis (disorder)" @@ -107033,11 +107034,11 @@ "Erucic acid" "lung aspergillosis" "pulmonary aspergilloma" + "SCAR3" "pediatric medulloblastoma" "medulloblastoma of childhood" "paediatric medulloblastoma" "childhood medulloblastoma" - "SCAR3" "SK4" "SK-GT-4" "blood serum campesterol 3-beta-D-glucoside amount" @@ -107202,9 +107203,9 @@ "Tietz albinism-deafness syndrome" "Tietz syndrome" "albinism-deafness of Tietz" + "thecal cell layers" "oxygen tension" "PaO2" - "thecal cell layers" "blood serum phospholipid transfer protein amount" "inflammation of larynx" "laryngeal Inflammation" @@ -107308,11 +107309,11 @@ "blood serum semaphorin-4F amount" "HRPTTN" "hyperparathyroidism, transient neonatal" - "isolated gastroduodenal malformation" - "nonsyndromic gastroduodenal malformation" "CD8-positive, alpha-beta memory T-cell" "CD8-positive, alpha-beta memory T lymphocyte" "CD8-positive, alpha-beta memory T-lymphocyte" + "isolated gastroduodenal malformation" + "nonsyndromic gastroduodenal malformation" "rectum leiomyosarcoma" "leiomyosarcoma of rectum" "rectal leiomyosarcoma" @@ -107414,12 +107415,12 @@ "pituitary hormone deficiency, combined, type 4" "uterine ligament adenocarcinoma" "blood plasma 9-HODE amount" - "blood serum prolyl hydroxylase EGLN3 amount" "disease of upper respiratory tract" - "upper respiratory tract disease or disorder" "disease or disorder of upper respiratory tract" + "upper respiratory tract disease or disorder" "upper respiratory tract disease" "disorder of upper respiratory tract" + "blood serum prolyl hydroxylase EGLN3 amount" "LQT5" "long QT syndrome type 5" "long QT syndrome 5" @@ -107552,13 +107553,13 @@ "bladder signet ring cell adenocarcinoma" "urinary bladder signet Ring adenocarcinoma" "urinary bladder signet ring cell carcinoma" + "Cystic medial necrosis of aorta" + "Annuloaortic ectasia" + "Erdheim disease" "PTEN malignant glioma" "malignant glioma caused by mutation in PTEN" "glioma susceptibility 2" "glioma susceptibility type 2" - "Cystic medial necrosis of aorta" - "Annuloaortic ectasia" - "Erdheim disease" "spermatogenic failure 51" "SPGF51" "PMLD1" @@ -107873,11 +107874,11 @@ "Cestoda disease or disorder" "cestode infection" "perennial ryegrass" - "Langerhans cell sarcoma" - "sarcoma of Langerhans cell" "Alsin-related motor neuron disease" "Republic of Korea"@en "Republic of Korea" + "Langerhans cell sarcoma" + "sarcoma of Langerhans cell" "blood serum protein FAM163B amount" "blood serum selenoprotein M amount" "physiological sexual dysfunction" @@ -107990,8 +107991,8 @@ "neoplasm of the thorax" "tumour of the thorax" "thoracic neoplasm" - "thoracic segment of trunk tumour" "tumor of thorax" + "thoracic segment of trunk tumour" "thoracic tumour" "Juvenile GM2 gangliosidosis 0 variant" "Hexosaminidases A and B deficiency, juvenile form" @@ -108059,17 +108060,17 @@ "haemangiopericytic meningioma" "hemangiopericytoma" "haemangiopericytic meningioma [obs]" - "tricuspid stenosis" - "Tricuspid stenosis" - "Tricuspid valve stenosis (disorder)" - "tricuspid valve stenosis" - "Tricuspid Valve Stenosis" "blood serum cAMP-regulated phosphoprotein 21 amount" "level of PI(18:0_20:3) in blood serum" "blood serum PI(18:0_20:3) amount" "MM" "Miyoshi muscular dystrophy" "Miyoshi distal myopathy" + "tricuspid stenosis" + "Tricuspid stenosis" + "Tricuspid valve stenosis (disorder)" + "tricuspid valve stenosis" + "Tricuspid Valve Stenosis" "vesica urinaria" "blood serum vitamin D3 receptor amount" "anatomical duct" @@ -108691,10 +108692,10 @@ "malignant heart tumour" "malignant tumor of heart" "malignant Cardiac tumor" - "malignant tumour of the heart" "Cardiac neoplasm, malignant" "malignant tumour of heart" "malignant neoplasm of heart" + "malignant tumour of the heart" "blood serum von Willebrand factor A domain-containing protein 2 amount" "syncytial trophoblast" "syntrophoblast layer" @@ -108716,12 +108717,12 @@ "malignant adipose tissue neoplasm" "malignant lipomatous tumor" "malignant lipomatous neoplasm" - "X-linked non-specific intellectual disability" "hereditary spastic paraplegia type 72" "autosomal spastic paraplegia type 72" "pure hereditary spastic paraplegia caused by mutation in REEP2" "SPG72" "REEP2 pure hereditary spastic paraplegia" + "X-linked non-specific intellectual disability" "Dizzy spell" "Fusarium solan" "memory IgA B cell" @@ -109242,8 +109243,8 @@ "tumor of ileum" "ileum tumour" "ileal neoplasm" - "neoplasm of the ileum" "ileum neoplasm" + "neoplasm of the ileum" "tumour of ileum" "ileal tumour" "tumour of the ileum" @@ -109363,8 +109364,8 @@ "epileptic encephalopathy, early infantile, 46; EIEE46" "developmental and epileptic encephalopathy 46" "epileptic encephalopathy, early infantile, type 46" - "HCHWA, Piedmont type" "Xq25 duplication syndrome" + "HCHWA, Piedmont type" "blood serum beta-arrestin-1 amount" "level of PI(18:0_20:4) in blood serum" "blood serum PI(18:0_20:4) amount" @@ -109659,8 +109660,8 @@ "infantile liver failure syndrome 1" "infantile liver failure caused by mutation in Lars" "infantile liver failure syndrome type 1" - "blood serum BRICHOS domain-containing protein 5 (human) amount" "CMD1LL" + "blood serum BRICHOS domain-containing protein 5 (human) amount" "hyperopia, high" "tgd.vg5+.IEL" "NPC/HK1" @@ -109966,8 +109967,6 @@ "Caffey disease" "cortical congenital hyperostosis" "infantile cortical hyperostosis" - "46,XY partial testicular dysgenesis" - "46,XY PGD" "isolated complex I deficiency" "isolated NADH-ubiquinone reductase deficiency" "NADH coenzyme Q reductase deficiency" @@ -109975,6 +109974,8 @@ "isolated NADH-coenzyme Q reductase deficiency" "complex 1 mitochondrial respiratory chain deficiency" "isolated NADH-CoQ reductase deficiency" + "46,XY partial testicular dysgenesis" + "46,XY PGD" "blood serum transmembrane protein 106A amount" "trisomy 17q12" "chromosome 17q12 duplication syndrome" @@ -110570,11 +110571,11 @@ "Bacterium fluorescen" "Partial agenesis of the pancreas" "Congenital pancreatic agenesis" + "dup(X)(q12-q13.3)" "adenoid cystic carcinoma of trachea" "trachea adenoid cystic carcinoma" "adenoid cystic carcinoma of the trachea" "tracheal adenoid cystic carcinoma" - "dup(X)(q12-q13.3)" "dementia" "dementia (disease)" "AL" @@ -110798,8 +110799,8 @@ "Tropical spastic paralysis" "blood serum progonadoliberin-2 amount" "blood serum tether containing UBX domain for GLUT4 amount" - "blood serum nucleolysin TIAR amount" "blood serum transcription cofactor vestigial-like protein 4 amount" + "blood serum nucleolysin TIAR amount" "cornea epidermoid carcinoma" "corneal squamous cell carcinoma" "epidermoid carcinoma of cornea" @@ -111645,9 +111646,9 @@ "vascular tissue tumor" "tumour of vascular tissue" "tumor of vascular tissue" + "vascular system tumor" "vascular system neoplasm" "tumors, vascular" - "vascular system tumor" "vascular neoplasm" "vascular tissue neoplasm" "acheiropodia" @@ -111675,23 +111676,22 @@ "(2S)-2,3,3-trideuterio-2-(dideuterioamino)-3-(2,3,4-trideuteriophenyl)propanoic acid" "syndromic urogenital tract malformation" "syndrome associated with urogenital tract malformation" - "HCHWA, Italian type" "CFND" "Craniofrontonasal syndrome" "CFNS" "blood serum C-X-C motif chemokine 17 amount" + "HCHWA, Italian type" + "sooty mangabey" + "Cercocebus torquatus atys" "PLSIMCE" "Immature Plasma Cells" + "KTZSL" "splenomegaly-neutropenia-rheumatoid arthritis syndrome" "Felty Syndrome" "Felty syndrome" "Felty's syndrome" "rheumatoid arthritis with splenoadenomegaly and leukopenia" "Rheumatoid arthritis with splenoadenomegaly and leukopenia" - "sooty mangabey" - "Cercocebus torquatus atys" - "KTZSL" - "blood serum indoleamine 2,3-dioxygenase 1 amount" "Richner-Hanhart syndrome" "tyrosinemia due to TAT deficiency" "tyrosinemia due to tyrosine aminotransferase deficiency" @@ -111713,6 +111713,7 @@ "great vessels transposition" "transposition of the great vessels" "transposition of great vessels" + "blood serum indoleamine 2,3-dioxygenase 1 amount" "1-[2-(dimethylamino)-1-(4-methoxyphenyl)ethyl]cyclohexanol" "Venlafaxine" "PHTS" @@ -112060,8 +112061,8 @@ "malignant thoracic segment of trunk neoplasm" "malignant neoplasm of thorax" "malignant thoracic tumor" - "malignant neoplasm of thoracic segment of trunk" "malignant tumour of thorax" + "malignant neoplasm of thoracic segment of trunk" "thorax cancer" "malignant tumor of thorax" "malignant tumor of the thorax" @@ -112219,9 +112220,9 @@ "Gaucher disease type 3C" "Cardiovascular Gaucher disease" "Gaucher-like disease" + "brachial plexus neuropathy" "brachial plexus disorder" "brachial nerve plexus peripheral neuropathy" - "brachial plexus neuropathy" "brachial plexopathy" "Brachial plexus disorder" "Brachial Plexus Neuropathies" @@ -112346,11 +112347,11 @@ "Chronic Post-Traumatic Stress Disorder" "Stress Disorders, Posttraumatic" "Posttraumatic stress disorder (disorder)" + "blood serum arsenite methyltransferase amount" "Beckwith-Wiedemann syndrome" "Wiedemann-Beckwith syndrome" "exomphalos-macroglossia-gigantism syndrome" "BWS" - "blood serum arsenite methyltransferase amount" "blood serum golgin subfamily A member 7 amount" "blood serum Rho guanine nucleotide exchange factor TIAM1 amount" "Ray-Peterson-Scott syndrome" @@ -112655,8 +112656,8 @@ "tumor of the epicardium" "epicardial tumor" "epicardial neoplasm" - "epicardium tumor" "neoplasm of epicardium" + "epicardium tumor" "epicardium neoplasm" "tumor of epicardium" "epicardial tumour" @@ -112923,9 +112924,9 @@ "syndactyly of fingers 4 and 5" "SD3" "non-syndromic syndactyly caused by mutation in GJA1" + "blood serum protein lin-28 homolog B amount" "N-(3alpha,7alpha-dihydroxy-5beta-cholan-24-oyl)glycinate" "glycochenodeoxycholate" - "blood serum protein lin-28 homolog B amount" "blood serum EH domain-containing protein 3 amount" "injury to kidney" "blood serum Sterol ester (27:1/16:0) amount" @@ -113049,6 +113050,8 @@ "blood serum follistatin-related protein 5 amount" "ductus choledochus (biliaris)" "Mosaic trisomy type 14" + "sudden cardiac death" + "death, sudden, cardiac" "pneumoconiosis from coal dust" "Melanoedema" "Coal workers' pneumoconiosis" @@ -113062,8 +113065,6 @@ "Coal Miner's Pneumoconiosis" "coal workers' lung" "melanoedema" - "sudden cardiac death" - "death, sudden, cardiac" "Coxiellosis" "Q fever" "Coxiella burnetii caused disease or disorder" @@ -113308,11 +113309,11 @@ "8-[(E)-2-(3-chlorophenyl)ethenyl]-1,3,7-trimethyl-3,7-dihydro-1H-purine-2,6-dione" "human mesenchymal stem cell from adipose tissue" "hMSC-AT" + "blood serum peripheral plasma membrane protein CASK amount" "Pelizaeus-Merzbacher brain sclerosis" "PMD" "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type" "Diffuse familial brain sclerosis" - "blood serum peripheral plasma membrane protein CASK amount" "AML, Monosomy 7" "Meckel syndrome, type 3" "Meckel syndrome caused by mutation in TMEM67" @@ -113446,11 +113447,11 @@ "ocular pemphigus" "ocular pemphigoid" "mucosal pemphigoid" - "non-hereditary retinoblastoma" "goober" "peanut" "Arachis hypogea" "ground-nut" + "non-hereditary retinoblastoma" "acute suppurative otitis media" "suppurative otitis media, acute" "Psychosine" @@ -113889,8 +113890,8 @@ "neoplasm of small bowel" "tumour of small intestine" "neoplasm of the small intestine" - "small intestine neoplasm (disease)" "small bowel tumour" + "small intestine neoplasm (disease)" "tumour of the small bowel" "small bowel neoplasm" "Total Plasma Cells" @@ -114120,8 +114121,8 @@ "Venereal Diseases, Bacterial" "bacterial sexually transmitted disease" "Bacterial Venereal Disease" - "BACT SEX TRANSM DIS" "Disease, Bacterial Venereal" + "BACT SEX TRANSM DIS" "Diseases, Bacterial Venereal" "Sexually Transmitted Diseases, Bacterial" "Alagille-Watson syndrome" @@ -114533,15 +114534,15 @@ "Harrod syndrome" "cranio-facio-digito-genital syndrome" "blood serum secretoglobin family 3A member 1 amount" - "partial monosomy of the short arm of chromosome 5" - "partial deletion of the short arm of chromosome type 5" - "partial deletion of chromosome 5p" - "partial monosomy of chromosome 5p" "sympathetic nervous system disease or disorder" "disease of sympathetic nervous system" "sympathetic nervous system disease" "disease or disorder of sympathetic nervous system" "disorder of sympathetic nervous system" + "partial monosomy of the short arm of chromosome 5" + "partial deletion of the short arm of chromosome type 5" + "partial deletion of chromosome 5p" + "partial monosomy of chromosome 5p" "blood serum NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 amount" "HSAN3" "Hereditary sensory and autonomic neuropathy type 3" @@ -114561,17 +114562,17 @@ "blood serum interleukin-1 alpha amount" "Synspondylism" "blood Thr-Phe amount" - "AML, Monosomy 5" "Müllerian duct failure" "Aplasia of the Müllerian ducts" + "AML, Monosomy 5" + "LPE 18:0" + "blood serum epididymal secretory protein E3-beta amount" "adult Bartter syndrome" "BARTS3" "classic Bartter syndrome" "Bartter syndrome type 3" "Bartter syndrome type III" "Bartter disease type 3" - "LPE 18:0" - "blood serum epididymal secretory protein E3-beta amount" "susceptibility to varicella zoster virus infection measurement" "tibial longitudinal meromelia, bilateral" "achondroplasia-severe combined immunodeficiency syndrome" @@ -114770,8 +114771,8 @@ "down-regulation of mitosis" "downregulation of mitosis" "blood serum synaptosomal-associated protein 29 amount" - "Constitutional hemolytic anemia due to acanthocytic disorder" "concentration" + "Constitutional hemolytic anemia due to acanthocytic disorder" "blood serum nucleotide triphosphate diphosphatase amount" "blood serum Golgi phosphoprotein 3 amount" "O'Donnell-Pappas syndrome" @@ -114790,13 +114791,13 @@ "pyropoikilocytosis" "pyropoikilocytosis, hereditary" "Alport deafness-nephropathy" + "adenoid cystic carcinoma of submandibular gland" + "adenoid cystic carcinoma of the submandibular gland" + "submandibular gland adenoid cystic carcinoma" "RP93" "retinitis pigmentosa 93" "field mustard" "Brassica rapa L." - "adenoid cystic carcinoma of submandibular gland" - "adenoid cystic carcinoma of the submandibular gland" - "submandibular gland adenoid cystic carcinoma" "ovarian clear cell malignant adenofibroma" "ovarian clear cell adenocarcinofibroma" "blood serum proteasome subunit alpha type-3 amount" @@ -115023,10 +115024,10 @@ "keratoderma" "keratosis" "blood serum methyltransferase-like protein 11A amount" + "blood serum protein S100-A8 amount" "Precursor Plasma Cells" "Plasmablast" "PLSPCE" - "blood serum protein S100-A8 amount" "CASP8" "non-infectious iridocyclitis" "Bacteroides gingivalis" @@ -115859,10 +115860,10 @@ "Kleefstra syndrome due to del(9)(q34)" "9qSTDS" "Kleefstra syndrome due to monosomy 9q34" - "N(5)-(N,N'-dimethylcarbamimidoyl)-L-ornithine" "HSV encephalitis" "Herpes simplex neuroinvasion" "Herpes simplex encephalitis" + "N(5)-(N,N'-dimethylcarbamimidoyl)-L-ornithine" "blood serum coenzyme Q-binding protein COQ10 homolog A, mitochondrial amount" "Young-Hugues syndrome" "GM17203 cell" @@ -115926,11 +115927,11 @@ "Macrogyria" "Cerebral pachygyria" "LGMD1D" - "primary diffuse large B-cell gastric lymphoma" "primary diffuse large B-cell lymphoma of the stomach" "primary gastric diffuse large B-cell lymphoma" "gastric diffuse large B-cell lymphoma" "primary diffuse large B-cell lymphoma of stomach" + "primary diffuse large B-cell gastric lymphoma" "Meige syndrome" "Meige dystonia" "Meige Syndrome" @@ -116078,8 +116079,8 @@ "Bacillus anthracis (strain Sterne)" "Salmonella muenster" "Salmonella enteritidis serotype muenster" - "Postaxial polydactyly - intellectual disability" "blood serum Ras-related protein R-Ras2 amount" + "Postaxial polydactyly - intellectual disability" "primary thrombocytopenic purpura" "thrombocytopenic purpura, autoimmune" "Purpura, Thrombocytopenic, Idiopathic" @@ -116107,8 +116108,8 @@ "autoimmune haemolytic anemia" "MPPH syndrome" "Brainstem infarction NOS" - "Brainstem infarction NOS (disorder)" "brain stem infarction" + "Brainstem infarction NOS (disorder)" "brain stem infarction (disorder)" "brainstem infarction" "brain infarction of brainstem" @@ -116566,10 +116567,10 @@ "giant cell tumour NOS (morphologic abnormality)" "giant cell tumor NOS (morphologic abnormality)" "GM17267 cell" - "blood serum serum paraoxonase/arylesterase 1 amount" - "blood serum phosphatidylcholine-sterol acyltransferase amount" "1,2-dibromoethane" "1,2-Dibromoethane" + "blood serum serum paraoxonase/arylesterase 1 amount" + "blood serum phosphatidylcholine-sterol acyltransferase amount" "malignant reproductive organ neoplasm" "malignant neoplasm of reproductive system" "malignant neoplasm of reproductive organ" @@ -116667,8 +116668,8 @@ "iPSC" "TPP" "X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features" - "tacrolimus hydrate measurement" "Inherited macrothrombocytopenia" + "tacrolimus hydrate measurement" "disorder of the autonomic nervous system" "autonomic nervous system disease" "autonomic nervous system disorder" @@ -116687,8 +116688,8 @@ "Global run-on sequencing" "Genomic run-on sequencing" "guttate psoriasis" - "GM17801 cell" "CSF clusterin measurement" + "GM17801 cell" "blood serum high mobility group protein B3 amount" "disease or disorder of ventral horn of spinal cord" "disease of ventral horn of spinal cord" @@ -117168,15 +117169,15 @@ "taurocyamine phosphate, N(omega)-phosphotaurocyamine" "Avulavirus infectious disease" "Avulavirus Infections" + "Recurrent infections-bone marrow fibrosis-nephromegaly syndrome" + "Congenital neutropenia-myelofibrosis-nephromegaly syndrome" + "Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" "ES" "epithelioid cell sarcoma" "epithelioid sarcoma" "Blepharophimosis-intellectual disability syndrome type V" "BMRS, Verloes type" "BMRS type V" - "Recurrent infections-bone marrow fibrosis-nephromegaly syndrome" - "Congenital neutropenia-myelofibrosis-nephromegaly syndrome" - "Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" "blood serum transcription factor MafG amount" "blood serum ephrin type-A receptor 8 amount" "protoporphyria, erythropoietic, 2" @@ -117508,12 +117509,12 @@ "glucocorticoid therapy, response to" "Delta granule disease" "secondary hypertension" - "disorder of aortic valve" "aortic valve disease or disorder" "aortic valve disorder" "disease of aortic valve" "aortic valve disease" "disease or disorder of aortic valve" + "disorder of aortic valve" "Lowry syndrome" "Kimura's disorder" "Kimura disease" @@ -117535,12 +117536,12 @@ "lipoma of large bowel" "lipoma of the large intestine" "Carnevale-Hernández-del Castillo syndrome" + "Asn HyPh" "LGMD2Q" "muscular dystrophy, limb-girdle, type 2Q" "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency" "muscular dystrophy, limb-girdle, autosomal recessive 17" "blood serum potassium channel regulatory protein amount" - "Asn HyPh" "blood serum lithostathine-1-alpha amount" "HLD22" "Galactose Mutarotase Deficiency" @@ -118304,8 +118305,8 @@ "early onset hypertension" "hereditary sensory and autonomic neuropathy, autosomal dominant" "blood serum adhesion G protein-coupled receptor B1 amount" - "OODD" "macrodactyly of hand, bilateral" + "OODD" "blood serum E3 ubiquitin-protein ligase TRIM21 amount" "tuberculosis disease" "blood serum amyloid beta precursor like protein 1 amount" @@ -118421,7 +118422,6 @@ "myofibrillar myopathy 8" "myopathy, myofibrillar, 8" "myopathy, myofibrillar, type 8" - "aniseikonia" "Brachymetacarpalia" "Metacarpal hypoplasia" "Shortening of metacarpals" @@ -118430,6 +118430,7 @@ "Shortened metacarpals" "Hypoplastic metacarpal" "Short metacarpals" + "aniseikonia" "cellular nitrogen compound metabolism" "blood serum myelin-associated glycoprotein amount" "blood serum ephrin type-B receptor 1 amount" @@ -118468,6 +118469,8 @@ "lymph node adenoid cystic carcinoma" "blood serum acyl-coenzyme A thioesterase 8 amount" "terminal portion of intestine" + "cranial ganglia" + "head ganglion" "Mumps virus infectious disease" "epidemic parotitis" "Rubulavirus infectious disease" @@ -118476,8 +118479,6 @@ "Mumps virus disease or disorder" "Mumps virus caused disease or disorder" "Rubulavirus Infections" - "cranial ganglia" - "head ganglion" "vitreous humor disease or disorder" "disease or disorder of vitreous humour" "disease of vitreous humor" @@ -118491,11 +118492,6 @@ "blood serum sulfite oxidase, mitochondrial amount" "neurofaciodigitorenal syndrome" "Freire Maia-Pinheiro-Opitz syndrome" - "inborn porphyrin-containing compound metabolic process disorder" - "inborn disorder of porphyrin and haem metabolism" - "inborn error of porphyrin-containing compound metabolic process" - "rare inborn error of porphyrin-containing compound metabolic process" - "inherited disorder of porphyrin metabolism" "Syringadenoma papilliferum" "papillary Syringadenoma" "Syringadenoma" @@ -118506,6 +118502,11 @@ "fistulous vegetative verrucous hydradenoma" "papillary Syringadenoma (syringocystadenoma papilliferum)" "papillary syringocystadenoma" + "inborn porphyrin-containing compound metabolic process disorder" + "inborn disorder of porphyrin and haem metabolism" + "inborn error of porphyrin-containing compound metabolic process" + "rare inborn error of porphyrin-containing compound metabolic process" + "inherited disorder of porphyrin metabolism" "3alpha,6alpha,7alpha-trihydroxy-5beta-cholan-24-oic acid" "Hyocholic acid" "superior palpebral coloboma" @@ -118747,23 +118748,23 @@ "Itchy skin" "Itching" "Skin itching" + "Tetralogy of Fallot with absent pulmonary valve syndrome" "Bm5 B-lymphocyte" "Bm5 B-cell" "Bm5 B lymphocyte" - "Tetralogy of Fallot with absent pulmonary valve syndrome" "blood serum putative protein-lysine deacylase ABHD14B amount" "GEXSCOPE" "synovial sarcoma, biphasic" "synovial sarcoma, biphasic (morphologic abnormality)" "biphasic sarcoma of synovium" "biphasic sarcoma of the synovium" - "presumptive epidermis" "pulmonary diffusing capacity" "carbon monoxide diffusing capacity" "transfer factor of the lung for carbon monoxide" + "presumptive epidermis" "CFS" - "myalgic encephalomeyelitis/chronic fatigue syndrome" "myalgic encephalitis" + "myalgic encephalomeyelitis/chronic fatigue syndrome" "myalgic encephalomyelitis" "Myalgic Encephalomyelitis" "systemic exertion intolerance disease" @@ -118879,10 +118880,10 @@ "indole-3-carboxylic acid" "infection by Pasteurella multocida" "blood serum lithostathine-1-beta amount" - "Passwell-Goodman-Siprkowski syndrome" "10x 5' v3 sequencing" "10X 5' v3 sequencing" "10X 5' v3" + "Passwell-Goodman-Siprkowski syndrome" "BTHS" "3-Methylglutaconicaciduria type 2" "MGA type 2" @@ -118895,6 +118896,7 @@ "X-linked cardioskeletal myopathy and neutropenia" "cardioskeletal myopathy-neutropenia syndrome" "MGA type II" + "spastic paraplegia, intellectual disability, nystagmus, and obesity" "MITOCHONDRIAL ELECTRON TRANSPORT CHAIN DEFIC" "mitochondrial disease/disorder" "hyperglycaemia" @@ -118921,7 +118923,6 @@ "Mitochondrial Diseases" "Deficiencies, Oxidative Phosphorylation" "Respiratory Chain Deficiency" - "spastic paraplegia, intellectual disability, nystagmus, and obesity" "FH" "acute secretory otitis media" "non-suppurative otitis media, acute" @@ -119032,10 +119033,10 @@ "multiple eruptive juvenile xanthogranuloma" "Naevoxanthoendothelioma" "JXG" - "LyH49H-positive" "129 Sv/Ev" "129/SvEv" "129S6/SvEv" + "LyH49H-positive" "familial lupus anticoagulant" "antiphospholipid syndrome" "antiphospholipid antibody syndrome" @@ -119051,9 +119052,9 @@ "lung cancer, protection against, autosomal dominant, somatic mutation" "malignant tumor of lung" "malignant tumour of lung" - "lung cancer, susceptibility to, autosomal dominant, somatic mutation" - "malignant lung tumor" "lung cancer" + "malignant lung tumor" + "lung cancer, susceptibility to, autosomal dominant, somatic mutation" "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation" "cancer of lung" "malignant neoplasm of the lung" @@ -119754,7 +119755,6 @@ "LHON plus disease" "blood serum amyloid beta precursor like protein 2 amount" "benzenemethanesulfonyl fluoride" - "blood serum melanoma-associated antigen 10 amount" "congenital mitral regurgitation" "congenital insufficiency of mitral valve" "congenital mitral insufficiency" @@ -119762,6 +119762,7 @@ "mitral insufficiency" "insufficiency, mitral" "mitral regurgitation" + "blood serum melanoma-associated antigen 10 amount" "F7 deficiency" "deficiency, stable" "factor VII deficiency" @@ -120113,8 +120114,8 @@ "mucinous adenofibroma of ovary" "blood serum BTB/POZ domain-containing protein KCTD5 amount" "blood serum regenerating islet-derived protein 3-alpha amount" - "blood serum sulfotransferase 1E1 amount" "Male infertility due to impaired sperm transport of genetic origin" + "blood serum sulfotransferase 1E1 amount" "Mesomelic dwarfism, Langer type" "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities" "intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome" @@ -120241,9 +120242,9 @@ "hemangioma of peripheral nerve" "hemangioma of nerve" "nerve hemangioma" - "FRACtionation and high throughput RNA SEQuencing" "viviparous blenny" "Blennius viviparus" + "FRACtionation and high throughput RNA SEQuencing" "impulse-control disorder" "ICD" "pachyonychia congenita, Jadassohn-Lewandowsky type" @@ -120514,10 +120515,10 @@ "malignant mandible neoplasm" "blood serum ubiquitin-conjugating enzyme E2 Q2 amount" "PCCA" + "NK.49D-.Sp" "Fv1^b" "FVB/N" "Friend Virus B" - "NK.49D-.Sp" "telencephalic ventricle" "lateral ventricle" "lateral ventricles" @@ -120593,12 +120594,12 @@ "purine-nucleoside phosphorylase deficiency" "vascular insufficiency" "ATRUS syndrome" - "hepatic perisinusoidal cell" - "Ito cell" - "perisinusoidal cell" "Syndromic microphthalmia type 10" "MCOPS10" "MOBA syndrome" + "hepatic perisinusoidal cell" + "Ito cell" + "perisinusoidal cell" "Streptomyces venezuelensis" "GM17794 cell" "gastroenteritis" @@ -120717,11 +120718,11 @@ "genomic copy number assessment" "copy number variation analysis" "hyperlipoproteinemia" + "testosterone level" + "testosterone levels" "C4b-binding protein measurement" "C4b binding protein levels" "C4b-binding protein levels" - "testosterone level" - "testosterone levels" "GM02783 cell" "leukocyte adhesion deficiency caused by mutation in ITGB2" "leukocyte adhesion deficiency type I" @@ -120754,13 +120755,6 @@ "retinal arterial tortuosity" "mixed oligodendroglial and astrocytic tumor" "mixed oligodendroglial and astrocytic tumour" - "AOSD" - "Still's Disease, Adult-Onset" - "Wissler-Fanconi syndrome" - "adult-onset Still's disease" - "adult onset Still's disease" - "Adult-Onset Still's Disease" - "adult-onset Still disease" "autosomal recessive mental retardation" "autosomal recessive non-syndromic intellectual disability" "autosomal recessive non-syndromic mental retardation" @@ -120770,6 +120764,13 @@ "mental retardation, autosomal recessive" "autosomal recessive intellectual disability" "intellectual disability, autosomal recessive" + "AOSD" + "Still's Disease, Adult-Onset" + "Wissler-Fanconi syndrome" + "adult-onset Still's disease" + "adult onset Still's disease" + "Adult-Onset Still's Disease" + "adult-onset Still disease" "blood serum WAP four-disulfide core domain protein 3 amount" "Sveinsson chorioretinal atrophy" "SCRA" @@ -121380,8 +121381,8 @@ "benign neoplasm of the neck" "benign neck tumour" "benign tumor of the neck" - "neck benign neoplasm" "benign tumour of the neck" + "neck benign neoplasm" "benign tumor of neck" "benign tumour of neck" "benign neck tumor" @@ -121476,8 +121477,8 @@ "aortic valve calcification" "blood serum sex-determining region Y protein amount" "SADDAN" - "Chromatin Immunoprecipitation" "High Throughput Sequencing Kinetics" + "Chromatin Immunoprecipitation" "bromo(chloro)acetic acid" "HMNDYT2" "SLC39A14 hypermanganesemia with dystonia" @@ -122349,11 +122350,11 @@ "Long toes" "Increased length of toes" "Long toe" + "craniomicromelic syndrome" "TEN" "toxic epidermal necrolysis" "SJS-TEN" "toxic epidermolysis" - "craniomicromelic syndrome" "episodic ataxia type 8" "Double uterus and obstructed hemivagina syndrome" "Wunderlich syndrome" @@ -122769,6 +122770,7 @@ "Autosomal dominant cystoid macular edema" "wash_station" "nabothian cyst" + "N-acetylaspartate deficiency" "Monosomy 11qter" "Jacobsen Distal 11q Deletion Syndrome" "Distal monosomy 11q" @@ -122777,7 +122779,6 @@ "Telomeric deletion 11q" "Distal deletion 11q" "Partial deletion 11q" - "N-acetylaspartate deficiency" "Stone man syndrome" "progressive myositis ossificans" "fop" @@ -123046,9 +123047,6 @@ "Primary Craniosynostosis" "blood serum N-sulphoglucosamine sulphohydrolase amount" "Oci-Ly-3 cell" - "familial CD8 deficiency" - "susceptibility to respiratory infections associated with CD8alpha chain mutation" - "pharyngeal pouches 3" "intervertebral disc degenerative disorder of cervical region of vertebral column" "degeneration of cervical intervertebral disc" "cervical region of vertebral column intervertebral disk degenerative disorder" @@ -123059,6 +123057,9 @@ "cervical Disc degenerative disease" "degeneration of cervical intervertebral disk" "cervical Disc degenerative disorder" + "familial CD8 deficiency" + "susceptibility to respiratory infections associated with CD8alpha chain mutation" + "pharyngeal pouches 3" "ankyloglossia" "FUSED to floor of mouth" "tongue-tie" @@ -123299,10 +123300,10 @@ "F442A cell" "F442A" "blood serum PRKC apoptosis WT1 regulator protein amount" - "EBS-migr" "Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency" "Mitochondrial encephalo-cardio-myopathy due to mitochondrial respiratory chain complex V deficiency" "Mitochondrial encephalo-cardio-myopathy due to ATP synthase deficiency" + "EBS-migr" "maxillary sinus inverted papilloma" "inverted papilloma of maxillary sinus" "inverted papilloma of the maxillary sinus" @@ -123372,11 +123373,11 @@ "autosomal recessive complicated spastic paraplegia" "autosomal recessive complex HSP" "autosomal recessive complex SPG" - "T cell of small intestine Peyer's patch" - "T cell of Peyer's patch of small intestine" "ZARD" "ZC4H2-associated rare disorders" "ZC4H2-associated disorder" + "T cell of small intestine Peyer's patch" + "T cell of Peyer's patch of small intestine" "skin infection" "Kabuki make up syndrome" "KMS" @@ -124337,11 +124338,11 @@ "sarcomatoid transitional cell carcinoma" "Occipital region" "Occipital cortex" + "ethmoid sinus adenoid cystic carcinoma" + "adenoid cystic carcinoma of the ethmoid sinus" "Liddle syndrome" "pseudoaldosteronism" "Liddle's syndrome" - "ethmoid sinus adenoid cystic carcinoma" - "adenoid cystic carcinoma of the ethmoid sinus" "2-(N(omega)-L-arginino)butanedioic acid" "vitamin B9 intake measurement" "blood serum peroxisomal coenzyme A diphosphatase NUDT7 amount" @@ -124492,8 +124493,8 @@ "VMC" "mesenchymal hamartoma of the liver" "MHL" - "Von Meyenburg complexes disease" "liver MH" + "Von Meyenburg complexes disease" "g/L" "connatal PMD" "Pelizaeus-Merzbacher disease type II" @@ -124714,11 +124715,11 @@ "Pectobacterium disease or disorder" "Erwinia carotovora infection" "Pectobacterium caused disease or disorder" - "AG10941 cell" "eosinophilic gastroenteritis" "eosinophilic enteritis" "EGE" "eosinophilic gastroenterocolitis" + "AG10941 cell" "GM09585 cell" "Intrauterine death" "Death before birth" @@ -124762,8 +124763,8 @@ "Familial Hibernian fever" "TRAPS syndrome" "HCC-1954" - "blood serum coiled-coil domain-containing protein 69 amount" "Novak syndrome" + "blood serum coiled-coil domain-containing protein 69 amount" "ISS" "Transverse earlobe creases" "Earlobe crease" @@ -124946,10 +124947,10 @@ "periventricular nodular heterotopia" "malignant mixed neoplasm of the lacrimal gland" "lacrimal gland malignant mixed neoplasm" - "malignant mixed tumour of the lacrimal gland" "malignant mixed tumor of lacrimal gland" "malignant mixed tumor of the lacrimal gland" "lacrimal gland malignant mixed tumour" + "malignant mixed tumour of the lacrimal gland" "carcinoma Ex pleomorphic adenoma of the lacrimal gland" "carcinoma ex pleomorphic adenoma of the lacrimal gland" "lacrimal gland malignant mixed tumor" @@ -124971,13 +124972,13 @@ "X-linked ataxia-dementia syndrome" "spinocerebellar ataxia, X-linked type 4" "SCAX4" + "GM2-gangliosidosis, B, B1 variant" + "Hexosaminidase A deficiency" "Seckel syndrome type 8" "DNA2 Seckel syndrome" "Seckel syndrome 8" "SCKL8" "Seckel syndrome caused by mutation in DNA2" - "GM2-gangliosidosis, B, B1 variant" - "Hexosaminidase A deficiency" "distal HMN V" "distal hereditary motor neuropathy type V" "distal spinal muscular atrophy type 5" @@ -125074,18 +125075,18 @@ "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome" "Fibrofolliculomas" "blood serum heat shock 70 kDa protein 13 amount" - "southern house mosquito" - "Culex quinquifasciatus" - "Culex quinquifasiatus" - "Culex pipiens quiquefasciatus" - "Culex pipiens quinquefasciatus" - "Culex quiquefasciatus" "nicotinic acetylcholine-activated cation-selective channel activity" "acetylcholine-gated cation channel activity" "nAChR" "acetylcholine-activated cation-selective channel activity" "ionotropic acetylcholine receptor activity" "nicotinergic acetylcholine receptor activity" + "southern house mosquito" + "Culex quinquifasciatus" + "Culex quinquifasiatus" + "Culex pipiens quiquefasciatus" + "Culex pipiens quinquefasciatus" + "Culex quiquefasciatus" "HMC18" "alcohol withdrawal syndrome" "alcohol withdrawal" @@ -125125,10 +125126,10 @@ "bronchioalveolar adenocarcinoma of the lung" "nonsyndromic esophageal malformation" "isolated esophageal malformation" + "blood serum zinc finger protein 843 amount" "scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome" "cardiomyopathy, dilated, 2G" "CMD2G" - "blood serum zinc finger protein 843 amount" "rostral lateral line nerve" "nepovirus arabis mosaic virus ArMV" "AMV" @@ -125693,6 +125694,8 @@ "blood serum major prion protein amount" "Curatolo-Cilio-Pessagno syndrome" "visceral myopathy-familial external ophthalmoplegia syndrome" + "hepatitis B virus-related hepatocellular carcinoma" + "hepatitis B virus related hepatocellular carcinoma" "Peritonsillar Abscess" "Peritonsillar abscess" "peritonsillar abscess" @@ -125703,8 +125706,6 @@ "telencephalon septum" "septum (NN)" "septal area" - "hepatitis B virus-related hepatocellular carcinoma" - "hepatitis B virus related hepatocellular carcinoma" "Schinzel Giedion Syndrome" "Schinzel-Giedion syndrome" "SGS" @@ -126068,6 +126069,9 @@ "grade III meningioma" "WHO grade III meningioma" "grade 3 meningioma" + "chondroblastoma" + "chondroblastoma (disease)" + "chondroblastoma of bone" "malignant anal tumor" "malignant tumor of anus" "malignant anal neoplasm" @@ -126080,9 +126084,6 @@ "malignant anus neoplasm" "malignant tumor of the anus" "malignant tumour of the anus" - "chondroblastoma" - "chondroblastoma (disease)" - "chondroblastoma of bone" "BBGD" "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)" "thiamine-responsive encephalopathy" @@ -126140,10 +126141,10 @@ "autosomal dominant mental retardation 35" "mental retardation, autosomal dominant type 35" "blood serum Ras-related protein Rab-17 amount" + "pancreatic gastrinoma" "liposarcoma of mammalian vulva" "vulvar liposarcoma" "mammalian vulva liposarcoma" - "pancreatic gastrinoma" "Selective cobalamin malabsorption with proteinuria" "Familial megaloblastic anemia" "NANA measurement" @@ -126836,6 +126837,8 @@ "Mental retardation, nonspecific" "Mental retardation" "Median cleft of the upper lip - corpus callosum lipoma - cutaneous polyps" + "rhinopharynx" + "nasal part of pharynx" "malignant germ cell tumor of the ovary" "malignant ovarian germ cell tumour" "ovary malignant germ cell tumour" @@ -126848,8 +126851,6 @@ "malignant germ cell neoplasm of the ovary" "ovary malignant germ cell tumor" "malignant germ cell tumour of the ovary" - "rhinopharynx" - "nasal part of pharynx" "Laryngotracheal cleft" "Laryngotracheoesophageal cleft i" "Burkholderia cepacia complex genomovar VII" @@ -127088,12 +127089,12 @@ "autosomal recessive intermediate Charcot-Marie-Tooth disease" "RI-CMT" "intermediate Charcot-Marie-Tooth disease, autosomal recessive" - "N-{[(3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-2-benzopyran-7-yl]carbonyl}-L-phenylalanine" - "Ochratoxin A" "male infertility due to round-headed spermatozoa" "male infertility due to globozoospermia" "round-headed sperm syndrome" "Male infertility due to round-headed spermatozoa" + "N-{[(3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-2-benzopyran-7-yl]carbonyl}-L-phenylalanine" + "Ochratoxin A" "blood serum SH2 domain-containing protein 1B amount" "SCN4A-related channelopathy" "Richards-Rundle syndrome" @@ -127343,7 +127344,6 @@ "large cell carcinoma of the lung" "large cell undifferentiated lung carcinoma" "large cell lung carcinoma" - "boil of eyelid" "blepharitis of eyelid gland" "furuncle of eyelid" "Boil of eyelid" @@ -127352,6 +127352,7 @@ "Furuncle of eyelid" "eyelid gland blepharitis" "Hordeolum" + "boil of eyelid" "occupation-related stress disorder" "AG11513 cell" "homeostasis model assessment insulin resistance" @@ -127421,8 +127422,8 @@ "malignant tumour of choroid" "malignant neoplasm of optic choroid" "malignant optic choroid neoplasm" - "blood serum trem-like transcript 2 protein amount" "CRYAB-related myofobrillar myopathy" + "blood serum trem-like transcript 2 protein amount" "blood serum glutaredoxin-related protein 5 amount" "(6R)-2-amino-6-[(1R,2S)-1,2-dihydroxypropyl]-5,6,7,8-tetrahydropteridin-4(3H)-one" "plant germ" @@ -127476,8 +127477,8 @@ "disease of leukocyte" "disease or disorder of leukocyte" "leukocyte disorder" - "disorder of leukocyte" "disorder, leukocyte" + "disorder of leukocyte" "leukocyte disease" "adult mixed germ cell tumor of central nervous system" "mixed germ cell tumour of central nervous system of adults" @@ -127528,9 +127529,9 @@ "anthrax" "Bacillus cereus var. anthracis" "Bacteridium anthracis" - "blood serum kinetochore protein Spc25 amount" "ectodermal dysplasia and immunodeficiency 1, X-linked recessive" "EDAID1" + "blood serum kinetochore protein Spc25 amount" "CHLORPROPAMIDE" "Cockayne syndrome type 2" "Cockayne syndrome type B" @@ -127857,10 +127858,10 @@ "Vitamin B12-unresponsive methylmalonic aciduria" "A-172MG" "A-172 MG" + "haemorrhagic stroke" "hereditary myoclonus-progressive distal muscular atrophy syndrome" "Jankovic-Rivera syndrome" "acquired mineral metabolism disease" - "haemorrhagic stroke" "blood serum protein WFDC11 amount" "GM14479 cell" "ethmoid bone sinusitis" @@ -128139,11 +128140,11 @@ "partial deletion of chromosome 16q" "partial monosomy of the long arm of chromosome 16" "adenocarcinoma in situ" - "mandibular hypoplasia-hearing loss-progeroid syndrome" - "MDP syndrome" "non-distal deletion 12q" "non-telomeric monosomy 12q" "non-distal monosomy type 12q" + "mandibular hypoplasia-hearing loss-progeroid syndrome" + "MDP syndrome" "inner ear" "auris interna" "internal ear" @@ -128828,11 +128829,11 @@ "bovine respiratory disease complex" "substance induced mood disorders" "substance-related disorder" - "GM17242 cell" "Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora" "GCM syndrome" "Craniofacial dysostosis - genital, dental, cardiac anomalies" "Dental and eye anomalies-patent ductus arteriosus-normal intelligence" + "GM17242 cell" "blood serum serine protease HTRA1 amount" "blood serum aspartyl/asparaginyl beta-hydroxylase amount" "PKDYS" @@ -128848,12 +128849,12 @@ "ADCL" "blood serum three prime repair exonuclease 2 amount" "blood serum glutaminase kidney isoform, mitochondrial amount" - "secondary AVN" "embryonal rhabdomyosarcoma (disease)" "rhabdomyosarcoma, somatic" "ERMS" "embryonal rhabdomyosarcoma" "rhabdomyosarcoma, embryonal, type 1" + "secondary AVN" "benign testicular tumor" "testis benign neoplasm" "benign tumor of testis" @@ -129557,7 +129558,6 @@ "Atypical HUS with complement gene abnormality" "aHUS with complement gene abnormality" "Casamassima-Morton-Nance syndrome" - "COXPD51" "monosomy 3qter" "chromosome 3q29 microdeletion syndrome, isolated cases" "3q29 microdeletion syndrome" @@ -129565,6 +129565,7 @@ "Del(3)(q29)" "3qter deletion" "monosomy 3q29" + "COXPD51" "malignant thymoma type B3" "well differentiated thymic carcinoma" "atypical thymoma" @@ -129650,8 +129651,8 @@ "NGLY1 deficiency" "symptomatic heart failure" "ACC Stage C" - "vulva tumour" "tumor of vulva" + "vulva tumour" "neoplasm of vulva" "vulva neoplasm" "vulvar tumour" @@ -129729,6 +129730,7 @@ "infantile gigantism due to pituitary hyperplasia" "X-LAG (X-linked acrogigantism)" "blood serum cyclic AMP-dependent transcription factor ATF-1 amount" + "blood serum secretogranin-3 amount" "ferroportin disease" "SLC40A1 hereditary hemochromatosis" "autosomal dominant hereditary hemochromatosis" @@ -129736,7 +129738,6 @@ "Ferroportin Disease" "HFE4" "hereditary hemochromatosis caused by mutation in SLC40A1" - "blood serum secretogranin-3 amount" "sphenoid sinusitis, acute" "acute sphenoid sinusitis" "sphenoidal sinus -acute" @@ -129790,13 +129791,13 @@ "Familial cutaneous amyloidosis" "XLPDR" "blood serum 5-hydroxytryptamine receptor 6 amount" + "inflammation of lymph node" "lymph node inflammation" "lymphadenitis (disease)" "adenitis" "lymph nodeitis" "Inflammation of lymph node" "lymphadenitis" - "inflammation of lymph node" "Deafness - dystonia - optic neuronopathy syndrome" "DDON syndrome" "LPC 20:4" @@ -129849,6 +129850,7 @@ "nail disorder, nonsyndromic congenital, type 8" "familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form" "congenital primary megalo-ureter" + "TGP measurement" "hand-foot-genital syndrome" "HFGS" "hand-foot-uterus syndrome" @@ -129881,7 +129883,6 @@ "zeugopod of forelimb" "lower arm" "blood serum phosphatidylinositol 5-phosphate 4-kinase type-2 beta amount" - "TGP measurement" "non-small cell lung cancer" "non-small cell lung carcinoma (disease)" "non-small cell cancer of lung" @@ -129989,6 +129990,7 @@ "classic lattice corneal dystrophy" "LCDI" "lattice corneal dystrophy type 1" + "ovarian primitive germ cell tumor" "Kwashiorkor" "kwashiorkor" "nutritional edema with dyspigmentation of skin and hair" @@ -129998,7 +130000,6 @@ "Kwashiokor" "nutritional edema with dyspigmentation of skin and/or hair" "nutritional oedema with dyspigmentation of skin and/or hair" - "ovarian primitive germ cell tumor" "distal monosomy type 1q" "monosomy 1qter" "telomeric deletion 1q" @@ -130544,12 +130545,12 @@ "Leri pleonosteosis" "chondroid chordoma (morphologic abnormality)" "chondroid chordoma" - "leiomyoma of mammalian vulva" - "vulvar leiomyoma" - "mammalian vulva leiomyoma" "K deficiency" "potassium deficiency" "Potassium Deficiency" + "leiomyoma of mammalian vulva" + "vulvar leiomyoma" + "mammalian vulva leiomyoma" "malignant neoplasm of skeletal element" "malignant bone neoplasm" "skeletal element cancer" @@ -130727,8 +130728,8 @@ "CARBON DIOXIDE" "methanedione" "carbon dioxide" - "blood serum oxytocin-neurophysin 1 amount" "Sequencing of psoralen crosslinked, ligated, and selected hybrids" + "blood serum oxytocin-neurophysin 1 amount" "Wide toe" "Broad toe" "Corpus callosum agenesis - polysyndactyly" @@ -130779,6 +130780,8 @@ "X-linked hypophosphatemic rickets" "blood serum aldo-keto reductase family 1 member B10 amount" "phosphatidylcholine O-42:4" + "Lipid" + "lipids" "paediatric embryonal carcinoma of testis" "pediatric testicular embryonal carcinoma" "childhood embryonal carcinoma of the testis" @@ -130789,8 +130792,6 @@ "pediatric embryonal carcinoma of testis" "testicular embryonal carcinoma of childhood" "childhood testicular embryonal carcinoma" - "Lipid" - "lipids" "diazoxide-resistant hyperinsulinemic hypoglycemia" "fallopian tube papilloma" "fallopian tube serous papilloma" @@ -130815,13 +130816,6 @@ "X-linked cerebral adrenoleukodystrophy" "blood serum nuclear inhibitor of protein phosphatase 1 amount" "Kawashima-Tsuji syndrome" - "preauricular sinus and fistula" - "disorder of external ear" - "disease of external ear" - "external ear disorder" - "disease or disorder of external ear" - "external ear disease" - "external ear disease or disorder" "Diagnostic Findings" "Signs and Symptoms" "DESC" @@ -130840,6 +130834,13 @@ "cystoma serosum simplex" "simple cystoma of ovary" "ovarian cystadenoma" + "preauricular sinus and fistula" + "disorder of external ear" + "disease of external ear" + "external ear disorder" + "disease or disorder of external ear" + "external ear disease" + "external ear disease or disorder" "Digitalization of thumb" "Digitalization of thumbs" "Complete duplication of thumb bones" @@ -130907,11 +130908,11 @@ "development stage" "developmental_stage" "life cycle stage" + "mild heart failure" + "NYHA class II" "blood serum glycylpeptide N-tetradecanoyltransferase 2 amount" "brain calcification, Rajab type" "neurodevelopmental disorder with brain, liver, and lung abnormalities" - "mild heart failure" - "NYHA class II" "cardia of stomach cancer" "Ca cardia - stomach" "malignant cardia of stomach neoplasm" @@ -131037,6 +131038,8 @@ "inborn error of sterol metabolic process" "rare inborn error of sterol metabolic process" "inborn sterol metabolic process disorder" + "Pelger-Huet anomaly" + "Pelger-Huet Anomaly" "malignant soft tissue tumor of CNS" "malignant soft tissue neoplasm of CNS" "malignant central nervous system soft tissue tumour" @@ -131063,8 +131066,6 @@ "malignant central nervous system soft tissue neoplasm" "central nervous system mesenchymal non-meningothelial tumor, malignant" "malignant CNS soft tissue neoplasm" - "Pelger-Huet anomaly" - "Pelger-Huet Anomaly" "scleroatonic muscular dystrophy" "UCMD" "Ullrich scleroatonic muscular dystrophy" @@ -131244,16 +131245,16 @@ "camptosynpolydactyly, complex" "EDS, classic-like type" "Ehlers-Danlos syndrome, classic-like type" - "afferent glomerular arteriole" - "arteriola glomerularis afferens renis" - "afferent glomerular arteriole of kidney" - "kidney afferent arteriole" - "afferent arteriole" "CD4-negative, CD8-negative type I NKT cell secreting interleukin-4" "CD4-negative, CD8-negative type I NK T-lymphocyte secreting interleukin-4" "CD4-negative, CD8-negative type I NK T-cell secreting interleukin-4" "CD4-negative, CD8-negative type I NK T lymphocyte secreting interleukin-4" "CD4-negative, CD8-negative type I NK T cell secreting IL-4" + "afferent glomerular arteriole" + "arteriola glomerularis afferens renis" + "afferent glomerular arteriole of kidney" + "kidney afferent arteriole" + "afferent arteriole" "leukodystrophy due to alkaline ceramidase 3 deficiency" "ACER3-related early childhood-onset progressive leukodystrophy" "blood serum SHC-transforming protein 4 amount" @@ -131594,12 +131595,12 @@ "blood serum molybdenum cofactor sulfurase amount" "hereditary clubfoot due to 5q31 microdeletion" "familial BAV" - "heart ventricle" - "ventricle of heart" - "lower chamber of heart" "PIK3R1 autosomal agammaglobulinemia" "agammaglobulinemia 7, autosomal recessive" "autosomal agammaglobulinemia caused by mutation in PIK3R1" + "heart ventricle" + "ventricle of heart" + "lower chamber of heart" "black spruce" "blood serum ribonuclease-like protein 10 amount" "Change of Life, Female" @@ -131792,7 +131793,6 @@ "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" "molybdenum cofactor deficiency, complementation group type a" "blood serum ephrin type-A receptor 4 amount" - "blood serum neuropilin and tolloid-like protein 2 amount" "large intestine leiomyoma" "leiomyoma of large intestine" "colorectal leiomyoma" @@ -131801,6 +131801,7 @@ "leiomyoma of the large intestine" "leiomyoma of large bowel" "colorectum leiomyoma" + "blood serum neuropilin and tolloid-like protein 2 amount" "oligodendroglioma of adults" "grade II adult oligodendroglial tumour" "adult oligodendroglioma" @@ -131855,6 +131856,8 @@ "aminoacylase 2 deficiency" "aspartoacylase deficiency" "spongy degeneration of central nervous system" + "Del(14)(q11.2)" + "Monosomy 14q11.2" "hyperinsulinemia hypoglycemia" "Nesidioblastosis" "hyperinsulinemic hypoglycemia" @@ -131866,8 +131869,6 @@ "process resulting in protein modification" "cellular protein modification process" "protein modification" - "Del(14)(q11.2)" - "Monosomy 14q11.2" "Cayman cerebellar ataxia" "ataxia, cerebellar, Cayman type" "Cayman type cerebellar ataxia" @@ -131998,8 +131999,8 @@ "SU8686" "SU86.86" "SU86-86" - "SU-86-86" "Su-86-86" + "SU-86-86" "ARCL2" "cutis laxa with joint laxity and developmental delay" "inborn error of glucose transport" @@ -132348,12 +132349,12 @@ "oculopharyngeal muscular dystrophy" "OPMD" "muscular dystrophy, oculopharyngeal" + "muscular dystrophy, adult-onset, with leukoencephalopathy" "Torovirus infectious disease" "Torovirus caused disease or disorder" "Torovirus disease or disorder" "Torovirus Infections" "torovirus infectious disease" - "muscular dystrophy, adult-onset, with leukoencephalopathy" "blood serum transferrin receptor protein 2 amount" "progressive foveal dystrophy" "North Carolina macular dystrophy" @@ -132504,11 +132505,11 @@ "mucoepidermoid carcinoma of the breast" "breast mucoepidermoid carcinoma" "mucoepidermoid breast carcinoma" + "carcinoma of the salivary gland" "saliva-secreting gland carcinoma" "salivary gland carcinoma" "carcinoma of saliva-secreting gland" "carcinoma of salivary gland" - "carcinoma of the salivary gland" "pacemaker" "artificial pacemaker" "blood serum Phosphatidylcholine (16:0_20:5) amount" @@ -132567,8 +132568,6 @@ "Papio hamadryas subsp." "Abnormality of lung veins" "inflammatory response" - "Skin Diseases, Vesiculobullous" - "vesiculobullous skin disease" "tunica mucosa intestini crassi" "mucosa of organ of large intestine" "large intestinal mucosa" @@ -132578,6 +132577,8 @@ "large intestine mucosa of organ" "mucous membrane of large intestine" "large intestine mucous membrane" + "Skin Diseases, Vesiculobullous" + "vesiculobullous skin disease" "nuclear localization signal" "cystic teratoma" "blood serum ATP-dependent 6-phosphofructokinase, muscle type amount" @@ -132728,9 +132729,9 @@ "COBALAMIN" "Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-cobamide" "cobalamin" - "epidermoid carcinoma of the conjunctiva" "epidermoid carcinoma of conjunctiva" "conjunctival squamous cell cancer" + "epidermoid carcinoma of the conjunctiva" "invasive squamous cell carcinoma of the conjunctiva" "conjunctiva epidermoid carcinoma" "ocular surface squamous neoplasia" @@ -132828,13 +132829,13 @@ "late infantile NCL" "oligosaccharide metabolism" "Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria" + "Monosomy 2q24" + "Del(2)(q24)" "oligodendroglioma of the brain" "oligodendroglioma of brain" "brain oligodendroglioma" "chronic acute hepatic porphyria" "acute hepatic porphyria, chronic" - "Monosomy 2q24" - "Del(2)(q24)" "blood serum pre-mRNA-splicing regulator WTAP amount" "blood serum sorting nexin-27 amount" "spindle cell nevus" @@ -133038,10 +133039,10 @@ "Bronchiolitis exudativa" "Obliterative bronchiolitis" "constrictive bronchiolitis" + "Chondrodysplasia, Grebe type" "sympathetic chain" "sympathetic part of autonomic division of nervous system" "PNS - sympathetic" - "Chondrodysplasia, Grebe type" "non-steroid anti-inflammatory drug use measurement" "inborn error of glycerol metabolic process" "rare inborn error of glycerol metabolic process" @@ -133215,12 +133216,12 @@ "Follicular stimulating hormone-resistant ovaries" "46,XX ovarian dysgenesis" "XX female gonadal dysgenesis" - "Pharyngula:Prim-5" "neonatal lupus" "neonatal lupus syndrome" "Neonatal Lupus Erythematosus" "Neonatal Lupus" "neonatal lupus erythematosus" + "Pharyngula:Prim-5" "level of phosphatidylcholine O-16:0_20:4 in blood serum" "blood serum phosphatidylcholine O-16:0_20:4 amount" "Inflammatory Bowel Diseases" @@ -133511,14 +133512,15 @@ "benign tumor of the adrenal gland" "benign adrenal gland tumor" "benign tumour of the adrenal gland" + "Hereditary vascular retinopathy - Raynaud phenomenon - migraine" + "HVR" "PAX5 precursor B-cell acute lymphoblastic leukaemia" "precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5" "leukemia, acute lymphoblastic, susceptibility to, 3" "precursor B-cell acute lymphoblastic leukaemia caused by mutation in PAX5" "leukemia, acute lymphoblastic, susceptibility to, type 3" "PAX5 precursor B-cell acute lymphoblastic leukemia" - "Hereditary vascular retinopathy - Raynaud phenomenon - migraine" - "HVR" + "sodium chloride" "granular-lattice corneal dystrophy" "CGD2" "combined granular-lattice corneal dystrophy" @@ -133527,7 +133529,6 @@ "avellino corneal dystrophy" "granular corneal dystrophy type 2" "GCDII" - "sodium chloride" "blood serum BRCA1-associated ATM activator 1 amount" "Stuttering" "Stammering" @@ -133960,8 +133961,8 @@ "immunodeficiency 31B" "STAT1 deficiency" "Familial infantile hypercalcemia with suppressed intact parathyroid hormone" - "blood serum transcriptional adapter 1-like protein amount" "GM14408 cell" + "blood serum transcriptional adapter 1-like protein amount" "SHFM" "Split hand foot malformation" "Ectrodactyly" @@ -136356,8 +136357,8 @@ "pulmonary artery syncytioma" "choriocarcinoma of pulmonary artery" "chorioepithelioma of pulmonary artery" - "blood serum small ribosomal subunit protein RACK1 amount" "MDS.Gr1hi" + "blood serum small ribosomal subunit protein RACK1 amount" "blood serum homeobox protein TGIF2LY amount" "COFS" "Pena-Shokeir syndrome type 2" @@ -136500,15 +136501,15 @@ "DENT DECAY" "blood serum lamina-associated polypeptide 2 amount" "blood serum transcriptional adapter 3 amount" + "herpes simplex encephalitis caused by mutation in TICAM1" + "Herpes simplex encephalitis, susceptibility to, type 4" + "herpes simplex encephalitis, susceptibility to, 4" + "TICAM1 herpes simplex encephalitis" "ALK-negative anaplastic large cell lymphoma" "anaplastic large cell lymphoma, ALK-negative" "ALK- ALCL" "ALK- anaplastic large cell lymphoma" "ALCL, ALK-" - "herpes simplex encephalitis caused by mutation in TICAM1" - "Herpes simplex encephalitis, susceptibility to, type 4" - "herpes simplex encephalitis, susceptibility to, 4" - "TICAM1 herpes simplex encephalitis" "steroid-modified tinea infection" "stratum corneum of epidermis fungal infectious disease" "paediatric kidney cancer" @@ -136792,7 +136793,6 @@ "Dysdiadochokinesia" "Difficulty performing quick and alternating movements" "telfer-Sugar-Jaeger syndrome" - "TGF-beta1" "genetic MCA" "hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability" "genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)" @@ -136802,6 +136802,7 @@ "bile duct signet ring cell carcinoma" "bile duct signet Ring cell carcinoma" "extrahepatic bile duct signet Ring cell carcinoma" + "TGF-beta1" "ethmoid plate" "alcoholic fatty liver" "alcoholic Steatohepatitis" @@ -136935,22 +136936,21 @@ "Anterior bulging of the globe of eye" "Eyeballs bulging out" "Bulging eye" + "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" + "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" + "46,XY disorder of sex development due to LHB deficiency" + "46,XY DSD due to luteinizing hormone subunit beta deficiency" + "46,XY DSD due to LHB deficiency" "blood serum chloride intracellular channel protein 4 amount" "Elevated diastolic BP" "vnc" "larval ventral ganglion" "ventral cord" "subesophageal + T1 + T2 + T3 + A1 + A2 + A3 + A4 + A5 + A6 + A7 + A8 ganglia" - "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" - "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" - "46,XY disorder of sex development due to LHB deficiency" - "46,XY DSD due to luteinizing hormone subunit beta deficiency" - "46,XY DSD due to LHB deficiency" "(2E,4R,5S,6E)-3,5-dimethoxy-4-methyl-7-{2'-[(2S,3E,5E)-7-methylocta-3,5-dien-2-yl][2,4'-bi-1,3-thiazol]-4-yl}hepta-2,6-dienamide" "Bm3 B-lymphocyte" "Bm3 B-cell" "Bm3 B lymphocyte" - "Seghers syndrome" "fleck retina, familial benign" "testicular tumor, childhood" "pediatric testicular neoplasm" @@ -136969,6 +136969,7 @@ "sleep related bruxism" "bruxism" "grinding teeth" + "Seghers syndrome" "thymus neuroendocrine carcinoma" "neuroendocrine carcinoma of thymus" "thymic neuroendocrine carcinoma" @@ -137280,8 +137281,8 @@ "Light-chain amyloidosis" "primary amyloidosis" "endometrial squamous cell carcinoma" - "squamous cell carcinoma of endometrium" "squamous cell carcinoma of the endometrium" + "squamous cell carcinoma of endometrium" "endometrium squamous cell carcinoma" "Clostridium argentinense Suen et al. 1988" "polydactyly, postaxial, type A8" @@ -137346,8 +137347,6 @@ "fibromyxoma" "fibromyxoma, benign" "XPF" - "desmin-related cardiomyopathy" - "CRYAB-related myofobrillar myopathy" "PJP" "Pneumonia, Pneumocystis" "Pneumocystis" @@ -137365,6 +137364,8 @@ "GPR143-related foveal hypoplasia with or without albinism" "Epidermal hamartoma syndrome" "blood serum phytanoyl-CoA dioxygenase, peroxisomal amount" + "desmin-related cardiomyopathy" + "CRYAB-related myofobrillar myopathy" "synthetic dextrose minimal medium" "synthetic defined medium" "synthetic dextrose" @@ -137392,14 +137393,14 @@ "Actinomycosis, Cervicofacial" "blood serum divergent protein kinase domain 1C amount" "mesenchyme cell" + "osmotic response" + "osmotic stress response" "inborn error of glutathione metabolic process" "inborn glutathione metabolic process disorder" "inborn error of glutathione metabolism" "glutathione metabolism disorder, inherited" "rare inborn error of glutathione metabolic process" "disorder of glutathione metabolism" - "osmotic response" - "osmotic stress response" "Tremors" "Tremors" "Tremor" @@ -137610,10 +137611,10 @@ "Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant" "Fibrinogen A alpha-chain amyloidosis" "Familial amyloid nephropathy due to fibrinogen A alpha-chain variant" - "blood serum collagen alpha-2(XI) chain amount" "male reproductive system tuberculosis" "Tuberculosis, Male Genital" "male genital tuberculosis" + "blood serum collagen alpha-2(XI) chain amount" "non-communicating hydrocephalus" "fibrofolliculomas with trichodiscomas and acrochordons" "BHD" @@ -137916,8 +137917,8 @@ "branched-chain 2-ketoacid dehydrogenase deficiency" "MSUD" "branched chain ketoaciduria" - "mediastinal node" "5-hydroxylysine" + "mediastinal node" "vps45 deficiency" "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" "osteo-onychodysplasia" @@ -138149,14 +138150,13 @@ "blood serum apolipoprotein A-V amount" "hereditary schizencephaly" "familial schizencephaly" + "Pseudomonas aeruginosa PA14 infection" "sickle cell-beta-thalassemia disease syndrome" "sickle cell-Beta-thalassemia" "S-Beta thalassemia" "HbS-beta-thalassemia syndrome" "Hb S-Beta thalassemia" "sickle cell-Beta thalassemia" - "Pseudomonas aeruginosa PA14 infection" - "SANDO" "atrial fibrillation, familial, type 12" "familial atrial fibrillation caused by mutation in ABCC9" "atrial fibrillation, familial, 12" @@ -138165,6 +138165,7 @@ "tectum" "neuraxis tectum" "tectum mesencephali" + "SANDO" "GM23245" "UKE-1" "ALI" @@ -138174,10 +138175,10 @@ "narcolepsy with or without cataplexy" "(2R)-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-3,4-dihydro-2H-chromen-6-ol" "(R,R,R)-alpha-tocopherol" - "Female infertility due to fecundation defect" "scrotum varicose disease" "varicose disease of scrotum" "scrotal varices" + "Female infertility due to fecundation defect" "white whale" "beluga whale" "beluga" @@ -138195,8 +138196,6 @@ "blood serum C1GALT1-specific chaperone 1 amount" "Neuropathy - ataxia - retinitis pigmentosa" "Neurogenic muscle weakness - ataxia - retinitis pigmentosa" - "AG07307 cell" - "blood serum Sterol ester (27:1/20:2) amount" "Meningeal Neoplasms" "Neoplasm, Intracranial Meningeal" "tumor of meningeal cluster" @@ -138268,6 +138267,8 @@ "Neoplasms, Meningeal" "Neoplasm, Meningeal" "Meningeal Neoplasm, Intracranial" + "AG07307 cell" + "blood serum Sterol ester (27:1/20:2) amount" "blood serum myeloid zinc finger 1 amount" "familial cold autoinflammatory syndrome type 3" "FACU" @@ -138327,8 +138328,8 @@ "WHO grade II meningioma" "grade 2 meningioma" "grade II meningioma" - "blood serum mRNA-capping enzyme amount" "respiratory portion of lung" + "blood serum mRNA-capping enzyme amount" "blood serum forkhead box protein P1 amount" "Valvular aortic stenosis" "Aortic stenosis" @@ -138639,8 +138640,8 @@ "blood serum homogentisate 1,2-dioxygenase amount" "SPG26" "GM2 synthase deficiency" - "lung sarcomatoid carcinoma" "Loss of ability to walk" + "lung sarcomatoid carcinoma" "blood serum guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 amount" "Mo.6C+II-" "blood serum protein-glutamine gamma-glutamyltransferase 2 amount" @@ -138836,11 +138837,11 @@ "disease remission" "N-[(2E)-3-phenylprop-2-enoyl]glycine" "Chickenpox" + "chickenpox" "chicken pox" "Varicella" "chicken pox infection" "varicella" - "chickenpox" "blood serum ubiquitin thioesterase otulin amount" "ulnar hypoplasia-lobster-claw deformity of feet syndrome" "Van den Berghe-Dequecker syndrome" @@ -139063,11 +139064,11 @@ "Mixed hyperlipoproteinemia" "Acrodysplasia scoliosis" "Brachydactyly - scoliosis - carpal fusion" + "ZMYM2-related neurodevelopmental disorder with multiple anomalies" "Bloom-Torre-Machacek syndrome" "Bloom syndrome" "BSyn" "congenital telangiectatic erythema syndrome" - "ZMYM2-related neurodevelopmental disorder with multiple anomalies" "Limited gross motor development" "Delayed gross motor skills" "Delayed motor skills" @@ -140004,11 +140005,11 @@ "blood serum leukotriene B4 receptor 1 amount" "ectodermal dysplasia-skin fragility syndrome" "McGrath syndrome" - "TAG 56:6" "lymphoma of eyeball of camera-type eye" "eyeball of camera-type eye lymphoma" "eye lymphoma" "primary eye lymphoma" + "TAG 56:6" "level of phosphatidylinositol 16:0_18:1 in blood serum" "blood serum phosphatidylinositol 16:0_18:1 amount" "Del(2)(q31.1)" @@ -140082,13 +140083,12 @@ "benign colonic tumor" "benign tumor of colon" "colonic Mass" - "benign tumor of the colon" "benign colonic neoplasm" + "benign tumor of the colon" "benign colon neoplasm" "benign tumour of the colon" "colon benign neoplasm" "benign colonic tumour" - "blood serum kallikrein-15 amount" "intervertebral Disc degenerative disease" "intervertebral disc disease" "intervertebral disc degeneration" @@ -140107,6 +140107,7 @@ "IDD" "intervertebral disk disease" "intervertebral Disc Degeneration" + "blood serum kallikrein-15 amount" "Wieacker-Wolff syndrome" "Foot contractures - muscle atrophy - oculomotor apraxia" "placoda otica" @@ -140317,10 +140318,10 @@ "blood serum methionine-R-sulfoxide reductase B1 amount" "Bleeding below the skin" "Subcutaneous haemorrhage" - "Accelerated skeletal maturation - peculiar facies - failure to thrive" "CHO/IR" "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" "squamous cell carcinoma of liver and IBT" + "Accelerated skeletal maturation - peculiar facies - failure to thrive" "HS" "hidradenitis suppurativa" "ectopic acne" @@ -140341,9 +140342,9 @@ "Arnold-Chiari malformation" "(Arnold) Chiari malformation" "Chiari malformation" + "blood serum retinoic acid receptor RXR-alpha amount" "Del(6)(p22)" "Monosomy 6p22" - "blood serum retinoic acid receptor RXR-alpha amount" "purine base metabolism" "purine base metabolic process" "blood serum platelet-activating factor acetylhydrolase IB subunit alpha1 amount" @@ -140360,8 +140361,8 @@ "Ritscher-Schinzel syndrome 1" "Ritscher-Schinzel syndrome type 1" "blood serum transmembrane protein 132A amount" - "academic attainment" "PFIC7" + "academic attainment" "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive" "NEDMILG, AR" "glucagon-like-peptide-1-stimulated insulin response" @@ -140678,16 +140679,16 @@ "sham therapy" "placebo therapy" "PLCB" + "sessile serrated polyp/adenoma" + "serrated adenoma type I" + "sessile serrated adenoma/polyp" + "serrated polyp with abnormal proliferation" "Decreased aldosterone" "Mineralocorticoid insufficiency" "Decreased serum aldosterone" "Decreased aldosterone production" "Low blood aldosterone level" "Hypoaldosteronism" - "sessile serrated polyp/adenoma" - "serrated adenoma type I" - "sessile serrated adenoma/polyp" - "serrated polyp with abnormal proliferation" "blood serum disks large homolog 4 amount" "congenital folate malabsorption" "primary hyperparathyroidism (disorder)" @@ -140769,14 +140770,14 @@ "Proctosigmoiditis (disorder)" "Proctocolitis" "ulcerative (chronic) proctosigmoiditis" + "Angiomyoma" + "vascular leiomyoma" + "Angiomyoma (morphologic abnormality)" "autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL" "LGMD1G" "muscular dystrophy limb-girdle type 1G" "HNRNPDL autosomal dominant limb-girdle muscular dystrophy" "muscular dystrophy, limb-girdle, autosomal dominant 3" - "Angiomyoma" - "vascular leiomyoma" - "Angiomyoma (morphologic abnormality)" "maxillary sinusitis, acute" "acute antritis" "Neonatal-Onset Multisystem Inflammatory Disease" @@ -140991,6 +140992,7 @@ "autosomal dominant Charcot-Marie-Tooth disease type 2Q" "CMT2Q" "Charcot-Marie-Tooth neuropathy type 2Q" + "6-chloro-3,4-dihydro-2H-1,2,4-benzothiadiazine-7-sulfonamide 1,1-dioxide" "intellectual disability, X-linked, syndromic type 33" "mental retardation, X-linked, syndromic type 33" "intellectual disability, X-linked, syndromic 33" @@ -140999,7 +141001,6 @@ "MRXS33" "TAF1 X-linked syndromic intellectual disability" "X-linked syndromic intellectual disability caused by mutation in TAF1" - "6-chloro-3,4-dihydro-2H-1,2,4-benzothiadiazine-7-sulfonamide 1,1-dioxide" "ILC2" "nuocyte" "natural helper cell" @@ -141100,8 +141101,6 @@ "Absent/underdeveloped thumb" "Hypoplastic to aplastic thumbs" "Absent or hypoplastic thumbs" - "non poly adenylated RNA" - "blood serum heat shock protein beta-6 amount" "Early Childhood, Myoclonic Epilepsy" "Epilepsy, Early Childhood, Myoclonic" "Epilepsy, Myoclonic, Infantile, Benign" @@ -141129,16 +141128,12 @@ "Severe Myoclonic Epilepsy, Infantile" "Myoclonic Epilepsy, Infantile, Benign" "Benign Infantile Myoclonic Epilepsy" + "non poly adenylated RNA" + "blood serum heat shock protein beta-6 amount" "cystic renal cell carcinoma" "Car2" "CAII" "CA-II" - "islet cell adenomatosis" - "rhabdomyosarcoma with mixed embryonal and alveolar features" - "mixed type alveolar rhabdomyosarcoma" - "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" - "mixed type rhabdomyosarcoma" - "mixed alveolar rhabdomyosarcoma" "acute generalised peritonitis" "acute generalized peritonitis" "peritoneum inflammation" @@ -141146,6 +141141,12 @@ "peritonitis" "primary bacterial peritonitis" "inflammation of peritoneum" + "islet cell adenomatosis" + "rhabdomyosarcoma with mixed embryonal and alveolar features" + "mixed type alveolar rhabdomyosarcoma" + "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" + "mixed type rhabdomyosarcoma" + "mixed alveolar rhabdomyosarcoma" "blood serum coiled-coil domain-containing protein 149 amount" "blood serum trafficking protein particle complex subunit 5 amount" "Abnormality of female external genitalia" @@ -141191,6 +141192,10 @@ "WS4 plus" "PCWH" "Peripheral demyelinating neuropathy - central dysmyelinating leukodystrophy - Waardenburg syndrome - Hirschsprung disease" + "Vitreoretinal degeneration, Wagner type" + "Wagner syndrome" + "VCAN-related vitreoretinopathy" + "Dominant hyaloideoretinal dystrophy of Wagner" "anterior uveal tract" "tunica vasculosa bulbosa" "anterior vascular layer of the eyeball" @@ -141199,10 +141204,6 @@ "anterior vascular tunic of the eye" "anterior part of uveal tract" "water-West syndrome" - "Vitreoretinal degeneration, Wagner type" - "Wagner syndrome" - "VCAN-related vitreoretinopathy" - "Dominant hyaloideoretinal dystrophy of Wagner" "L-gamma-glutamyl-L-glutamic acid" "malignant vulvar neoplasm" "cancer of mammalian vulva" @@ -141342,7 +141343,6 @@ "OA1" "Ocular albinism type 1" "Ocular albinism, Nettleship-Falls type" - "blood serum MARCKS-related protein amount" "SGBS" "Simpson-Golabi-Behmel syndrome type 1" "Golabi-Rosen syndrome" @@ -141351,6 +141351,7 @@ "DGSX" "Simpson dysmorphia syndrome" "SDYS" + "blood serum MARCKS-related protein amount" "peroxisome biogenesis disorder 3A (Zellweger)" "infant intestinal toxin-mediated botulism" "infantile onset botulism" @@ -141913,8 +141914,8 @@ "Rise in pressure inside skull" "Intracranial pressure elevation" "malignancy in giant cell tumor of the bone" - "giant cell bone sarcoma" "OSTEOCLASTOMA, malignant" + "giant cell bone sarcoma" "Dedifferentiated giant cell tumor" "giant cell sarcoma of the bone" "Dedifferentiated giant cell tumour" @@ -142233,10 +142234,10 @@ "exostoses, multiple caused by mutation in EXT2" "exostoses, multiple, type 2" "exostoses (Multiple) 2 Gene" + "chalice cell" "familial medullary thyroid cancer" "Hereditary Thyroid Gland Medullary Cancer" "Familial Thyroid Gland Medullary Carcinoma" - "chalice cell" "isoleucine" "PARKINSON DIS" "PARKINSONS DIS LEWY BODY" @@ -142571,11 +142572,11 @@ "unspecified mitochondrial disorder" "monosomy type X" "intellectual developmental disorder with short stature, facial anomalies, and speech defects" + "Stratton-Parker syndrome" "anti-neutrophil antibody associated vasculitis" "acute glomerulonephritis with lesion of proliferative glomerulonephritis" "proliferative glomerulonephritis, acute" "post-streptococcal glomerulonephritis" - "Stratton-Parker syndrome" "lipoma of the CNS" "central nervous system lipoma" "CNS lipoma" @@ -143043,6 +143044,8 @@ "DMD" "Infantile malignant osteopetrosis" "GM17844 cell" + "p-null phenotype" + "Tj[a-]" "Staphylococcus aureus subsp. aureus strain USA300" "Staphylococcus aureus subsp. aureus str. USA300" "distal spinal muscular atrophy" @@ -143050,8 +143053,6 @@ "neuronopathy, distal hereditary motor" "dSMA" "classically activated macrophage" - "p-null phenotype" - "Tj[a-]" "blood serum interferon regulatory factor 8 amount" "tibiofibular terminal transverse meromelia, unilateral" "disease with focal palmoplantar hyperkeratosis as a major feature" @@ -143143,14 +143144,14 @@ "Developmental Delay, Epilepsy, and Neonatal Diabetes 1" "diabetes, permanent neonatal 2, with or without neurologic features" "PNDM2" + "Comèl-Netherton syndrome" + "NS" + "Bamboo hair syndrome" "legionellosis" "Legionella infection" "Legionellosis" "Legionnaires disease" "Legionella infection (disorder)" - "Comèl-Netherton syndrome" - "NS" - "Bamboo hair syndrome" "Xanthomonas oryzae pv. oryzae strain PXO99A" "Xanthomonas oryzae pv. oryzae str. PXO99A" "Xanthomonas oryzae pv. oryzae PX099A" @@ -143386,11 +143387,11 @@ "SCID with leukopenia" "reticular dysgenesis" "congenital aleukocytosis" - "blood serum serine/threonine-protein kinase Pim-2 amount" "CACNA1F-related retinopathy" "blood serum fragile X messenger ribonucleoprotein 1 amount" "spinal cord lipoma" "lipoma of spinal cord" + "blood serum serine/threonine-protein kinase Pim-2 amount" "hairy elbows syndrome" "MacDermot-Patton-Williams syndrome" "hairy elbows" @@ -143652,11 +143653,11 @@ "mitral valve rheumatologic disorder" "rheumatologic disorder of mitral valve" "blood serum beta-adducin amount" + "blood serum 5-hydroperoxy-7-[3,5-epidioxy-2-(2-octenyl)-cyclopentyl]-6-heptenoic acid amount" "Binder syndrome" "Maxillonasal dysostosis" "binder type maxillonasal dysplasia" "binder syndrome" - "blood serum 5-hydroperoxy-7-[3,5-epidioxy-2-(2-octenyl)-cyclopentyl]-6-heptenoic acid amount" "Pima" "sarcoidosis of heart" "heart sarcoidosis" @@ -143859,10 +143860,6 @@ "appendix lymphoma" "vermiform appendix lymphoma" "lymphoma of vermiform appendix" - "TGW-nu" - "TGW-nu-1" - "TGW-I-nu" - "TOG" "external Ear tumour" "tumor of the external Ear" "neoplasm of external ear" @@ -143878,6 +143875,10 @@ "tumour of the external Ear" "tumor of external Ear" "fetal Vgamma2-positive" + "TGW-nu" + "TGW-nu-1" + "TGW-I-nu" + "TOG" "cobalamin metabolism" "vitamin B12 metabolic process" "vitamin B12 metabolism" @@ -144000,8 +144001,8 @@ "azelaate" "ring dermoid of cornea" "Ring dermoid syndrome" - "ectopic ACTH secretion syndrome" "blood serum YjeF N-terminal domain-containing protein 3 amount" + "ectopic ACTH secretion syndrome" "autosomal recessive spastic paraplegia type 49" "hereditary spastic paraplegia 49" "autosomal recessive spastic paraplegia 49" @@ -144431,13 +144432,13 @@ "Lycopersicum esculentum" "polymorphic light eruption" "polymorphous light eruption" + "Oculopharyngeal distal myopathy" + "OPDM" "congenital pulmonary alveolar proteinosis" "congenital PAP" "inborn error of pulmonary surfactant metabolism" "inborn error of surfactant metabolism" "hereditary pulmonary alveolar proteinosis" - "Oculopharyngeal distal myopathy" - "OPDM" "rheumatic disease" "rheumatism" "rheumatic disorder" @@ -144533,11 +144534,11 @@ "IDDCA" "Leishmania tropica major" "Leishmania (Leishmania) major" + "blood serum beta-defensin 119 amount" "UREMIA OF renal ORIGIN" "Uremia" "uremia of renal origin" "uremia" - "blood serum beta-defensin 119 amount" "blood serum lipoprotein lipase amount" "blood serum eukaryotic translation initiation factor 4E type 2 amount" "SSS" @@ -144866,9 +144867,9 @@ "Salix viminalis L." "UPD(13)pat" "paternal uniparental disomy of chromosome type 13" + "plateletcrit (PCT)" "plateletcrit" "PCT" - "plateletcrit (PCT)" "platelet crit (PCT)" "viral esophagitis" "Viruses caused esophagitis (disease)" @@ -144954,8 +144955,8 @@ "NRAS Noonan syndrome" "benign neoplasm of cauda equina" "colloidal adenocarcinoma of the colon" - "colloid adenocarcinoma of colon" "colloid colon adenocarcinoma" + "colloid adenocarcinoma of colon" "colloid adenocarcinoma of the colon" "colon colloidal adenocarcinoma" "colonic colloidal adenocarcinoma" @@ -145422,9 +145423,9 @@ "digestive system melanoma" "gastrointestinal melanoma" "GM17846 cell" - "marginal papular palmoplantar hyperkeratosis" "Camero-Lituania-Cohen syndrome" "Genoa syndrome" + "marginal papular palmoplantar hyperkeratosis" "melon necrotic spot virus MNSV" "MNSV" "Tuberculosis, Female Genital" @@ -145505,8 +145506,8 @@ "lung mucoepidermoid cancer" "lung mucoepidermoid carcinoma" "Boil" - "GM17779 cell" "Autosomal dominant pseudohypoaldosteronism type 1" + "GM17779 cell" "x-linked spermatogenic failture type 1" "Germinal cell aplasia" "DEL CASTILLO syndrome" @@ -145702,12 +145703,12 @@ "Segment of cortex of frontal lobe" "PTSD symptom measurement" "thymic undifferentiated carcinoma" + "DeliveryMethod" "growth hormone insensitivity due to postreceptor defect" "Laron syndrome due to postreceptor defect" "short stature due to STAT5b deficiency" "Laron syndrome with immunodeficiency" "Laron-like syndrome" - "DeliveryMethod" "benign struma ovarii" "struma ovarii, benign" "twenty-four hour rhythm" @@ -145956,6 +145957,7 @@ "mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques" "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques" "palmoplantar and periorificial keratoderma" + "salivary gland small cell carcinoma" "salivary gland neuroendocrine carcinoma" "salivary gland anaplastic small cell carcinoma" "neuroendocrine carcinoma of salivary gland" @@ -145965,7 +145967,6 @@ "saliva-secreting gland small cell carcinoma" "anaplastic small cell carcinoma of the salivary gland" "anaplastic small cell carcinoma of salivary gland" - "salivary gland small cell carcinoma" "Long eyelashes" "Unusually long eyelashes" "Increased length of eyelashes" @@ -146673,8 +146674,8 @@ "2,3-dihydroxypropyl (9Z)-octadec-9-enoate" "1-oleoylglycerol" "Non-cerebral juvenile Gaucher disease" - "GM17776 cell" "Primary blepharospasm" + "GM17776 cell" "Crohn's ileitis" "kuru, susceptibility to" "combined 17-hydroxylase/17,20-lyase deficiency" @@ -146738,7 +146739,6 @@ "malignant neoplasm of the large bowel" "malignant tumor of the large bowel" "malignant colorectal tumour" - "PARK9" "refractory coeliac diease" "refractory CD" "refractory celiac disease" @@ -146748,6 +146748,7 @@ "intractable celiac sprue" "refractory sprue" "blood serum inter-alpha-trypsin inhibitor heavy chain H1 amount" + "PARK9" "blood serum tripartite motif-containing protein 3 amount" "Meng-1" "membrane-enclosed organelle" @@ -146797,8 +146798,6 @@ "malignant neoplasm of parametrium" "cancer of parametrium" "malignant parametrium neoplasm" - "LM3" - "MHCC-LM3" "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14" "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related" "muscular dystrophy limb-girdle type 2T" @@ -146807,6 +146806,8 @@ "LGMD2T" "LGMD-GMPPB related" "MDDGC14" + "LM3" + "MHCC-LM3" "blood serum opiorphin prepropeptide amount" "Martuba-0" "neurogenic placodes" @@ -146995,9 +146996,9 @@ "amyloidosis, MERETOJA type" "familial amyloidosis, Finnish type" "familial amyloid polyneuropathy type IV" + "GAMOS10" "typical endometrial hyperplasia" "endometrial hyperplasia without atypia" - "GAMOS10" "GM17262 cell" "peripheral demyelinating neuropathy" "Mesangiocapillary glomerulonephritis type 2" @@ -147051,10 +147052,10 @@ "Abnormal circulating LDH concentration" "Abnormal LDH level" "delay discounting measurement" - "Cerebroretinal microangiopathy with calcifications and cysts" - "CRMCC" "endometrioid neoplasm" "endometrioid tumor (morphologic abnormality)" + "Cerebroretinal microangiopathy with calcifications and cysts" + "CRMCC" "partial trisomy of chromosome 16p" "partial duplication of chromosome 16p" "partial duplication of the short arm of chromosome type 16" @@ -147295,8 +147296,8 @@ "Porphyromonas gingivalis str. ATCC 33277" "6-chloro-1-(4-hydroxyphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol" "eye(s), dry" - "KCS" "Dry Eye Syndrome" + "KCS" "tear film insufficiency" "Tear film insufficiency" "sicca, keratoconjunctivitis" @@ -147420,8 +147421,8 @@ "SCAE" "mitochondrial spinocerebellar ataxia with epilepsy" "blood serum ataxin-3 amount" - "SPG7" "Abnormality of prenatal development or birth" + "SPG7" "haemorrhagic fever" "CFNDS" "Microphthalmia - anophthalmia - coloboma" @@ -147462,7 +147463,6 @@ "ACS1" "type I Acrocephalosyndactyly" "blood serum nuclear receptor 2C2-associated protein amount" - "Neutrophilic urticaria" "renal system disease" "Kidney Disorder" "disease or disorder of kidney" @@ -147475,6 +147475,7 @@ "kidney diseases" "kidney disorder" "kidney disease or disorder" + "Neutrophilic urticaria" "Pityriasis linguae" "Glossitis, Benign Migratory" "benign migratory glossitis" @@ -147649,7 +147650,6 @@ "Wiedemann-Steiner syndrome" "partial trisomy of chromosome 2" "partial duplication of chromosome type 2" - "blood serum cerberus amount" "hemolytic disease of the foetus or newborn" "(Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn)" "erythroblastosis fetalis" @@ -147663,6 +147663,7 @@ "rhesus isoimmunisation of the newborn" "hemolytic disease of the fetus or newborn" "haemolytic disease due to rhesus isoimmunisation" + "blood serum cerberus amount" "malignant tumor of the uterine cervix" "malignant tumour of uterine cervix" "malignant tumor of the cervix uteri" @@ -148520,6 +148521,7 @@ "trichotillomania" "trichotillomania, multifactorial" "blood serum R-spondin-1 amount" + "notochord tumor" "cancer of notochord" "notochordal neoplasm" "notochord neoplasm" @@ -148531,7 +148533,6 @@ "notochordal tumor" "notochord cancer" "malignant neoplasm of notochord" - "notochord tumor" "neoplasm of the duodenum" "benign neoplasm of the duodenum" "benign tumour of duodenum" @@ -148543,15 +148544,15 @@ "benign duodenal tumor" "benign tumor of the duodenum" "benign duodenal tumour" + "Ahn-Lerman-Sagie syndrome" "osteopetrosis (disease) caused by mutation in LRP5" "osteopetrosis, autosomal dominant type 1" "LRP5 osteopetrosis (disease)" "autosomal dominant osteopetrosis type 1" "OPTA1" - "Ahn-Lerman-Sagie syndrome" "blood serum cAMP-dependent protein kinase type II-beta regulatory subunit amount" - "Achondrogenesis, Langer-Saldino type" "bile duct squamous cell carcinoma" + "Achondrogenesis, Langer-Saldino type" "disintegrin and metalloproteinase with thrombospondin motifs 13 activity measurement" "DNA_sequencer" "Fitzsimmons-McLachlan-Gilbert syndrome" @@ -148611,8 +148612,8 @@ "Asthma with status asthmaticus" "mesothelioma" "epidemic neurolabyrinthitis" - "vestibular neuritis" "Vestibular neuritis" + "vestibular neuritis" "Epidemic neurolabyrinthitis" "Vestibular Neuronitis" "vestibular neuronitis" @@ -148680,7 +148681,6 @@ "SPG38" "autosomal dominant spastic paraplegia type 38" "hereditary spastic paraplegia type 38" - "Estrogen excess" "brachydactyly (disease)" "brachydactyly" "testicular seminomatous germ cell tumour" @@ -148694,6 +148694,7 @@ "testicular seminomatous germ cell tumor" "testicular seminoma (disease)" "testis seminoma" + "Estrogen excess" "gastroduodenitis" "blood serum sorting nexin-15 amount" "Narrow nasal base" @@ -148749,8 +148750,6 @@ "iron-refractory iron deficiency anemia" "IRIDA syndrome" "iron-refractory iron deficiency anaemia" - "I-cell disease" - "N-acetylglucosamine 1-phosphotransferase deficiency" "hyperphenylalaninemia, BH4-deficient C" "hyperphenylalaninemia due to dihydropteridine reductase deficiency" "disorder of 6,7-dihydropteridine reductase activity" @@ -148759,6 +148758,8 @@ "PKU type 2" "phenylketonuria type 2" "hyperphenylalaninemia, Bh4-deficient, type C" + "I-cell disease" + "N-acetylglucosamine 1-phosphotransferase deficiency" "Reticulum cell sarcoma" "reticulosarcoma" "reticulum cell sarcoma" @@ -148809,6 +148810,7 @@ "truncus encephalicus" "Brainstem" "(6E,8Z,11Z,14Z)-5-oxoicosa-6,8,11,14-tetraenoic acid" + "MFS1" "Common Variable Hypogammaglobulinemias" "Deficiencies, Late-Onset Immunoglobulin" "Variable Hypogammaglobulinemias, Common" @@ -148844,7 +148846,6 @@ "Late-Onset Immunoglobulin Deficiency" "Common variable agammaglobulinemia" "Hypogammaglobulinemia, Common Variable" - "MFS1" "blood serum isochorismatase domain-containing protein 1 amount" "congenital pseudarthrosis of the ulna" "Anomaly of mouth shape" @@ -149023,12 +149024,12 @@ "PLA2G6-related dystonia-parkinsonism" "PARK14" "blood serum Myb/SANT-like DNA-binding domain-containing protein 2 amount" + "Mo.6c+II" "LRP4 sclerosteosis" "sclerosteosis type 2" "SOST2" "sclerosteosis 2" "sclerosteosis caused by mutation in LRP4" - "Mo.6c+II" "ductus ejaculatorius" "chromogranin B cleavage product measurement" "quadrate bone" @@ -149308,7 +149309,6 @@ "facial VII" "facial nerve tree" "seventh cranial nerve" - "AG08904 cell" "retinopathy-encephalopathy-deafness associated with microangiopathy" "Susac syndrome" "small infarctions of cochlear, retinal and encephalic tissue" @@ -149317,6 +149317,7 @@ "Susac's syndrome" "Retinocochleocerebral Vasculopathy" "SICRET syndrome" + "AG08904 cell" "volume percentage" "% (v/v)" "BG02" @@ -149472,8 +149473,8 @@ "blood serum ethanolamine kinase 1 amount" "cardiovascular system tumor" "cardiovascular system neoplasm" - "cardiovascular system tumour" "cardiovascular tumour" + "cardiovascular system tumour" "tumor of cardiovascular system" "cardiovascular tumor" "neoplasm of cardiovascular system" @@ -149783,7 +149784,6 @@ "acrocephalosyndactylia type V" "type V Acrocephalosyndactyly" "acrocephalosyndactyly type V" - "growth hormone producing tumour of the pituitary gland" "pituitary gland somatotropinoma" "growth hormone producing neoplasm of the pituitary gland" "growth hormone secreting neoplasm of the pituitary" @@ -149834,6 +149834,7 @@ "growth hormone secreting tumour of pituitary" "Growth hormone-producing pituitary gland tumour" "somatotropinoma of pituitary gland" + "growth hormone producing tumour of the pituitary gland" "blood serum KH domain-containing RNA-binding protein QKI amount" "early menopause" "premature menopause" @@ -149844,8 +149845,6 @@ "premature ovarian failure" "POF" "Lung Adenocarcinoma" - "cryptosporidiosis-chronic cholangitis-liver disease syndrome" - "High frontal hairline" "chronic osteomyelitis involving multiple sites" "Osteomyelitis of shoulder region (disorder)" "Unspecified osteomyelitis of the ankle and foot (disorder)" @@ -149909,6 +149908,8 @@ "Osteomyelitis of upper arm (disorder)" "acute osteomyelitis involving shoulder region" "bone infection NOS, of the hand (disorder)" + "High frontal hairline" + "cryptosporidiosis-chronic cholangitis-liver disease syndrome" "1-{[(5-nitro-2-furyl)methylene]amino}imidazolidine-2,4-dione" "Abnormality of the skull" "Desulfovibrio halophilus Caumette et al. 1991" @@ -149946,8 +149947,8 @@ "locus ceruleus" "locus cinereus" "blood serum pyridoxal phosphate phosphatase PHOSPHO2 amount" - "XLSA" "blood serum RNA polymerase-associated protein RTF1 amount" + "XLSA" "MIH" "qualitative or quantitative defects of protein POMGNT1" "6-pyruvoyl tetrahydropterin synthase deficiency" @@ -150165,9 +150166,9 @@ "Bacterium sonnei" "spondyloperipheral dysplasia" "spondyloperipheral dysplasia-short ulna syndrome" - "coloboma of the eyelid" "EKG" "electrocardiogram" + "coloboma of the eyelid" "Obesity grade 3" "Dysarthric speech" "Difficulty articulating speech" @@ -151142,8 +151143,8 @@ "mixed germ cell tumour of the ovary" "ovarian mixed germ cell tumour" "mixed germ cell tumour of ovary" - "blood serum low-density lipoprotein receptor class A domain-containing protein 3 amount" "trehalose measurement" + "blood serum low-density lipoprotein receptor class A domain-containing protein 3 amount" "X-linked Ohdo syndrome" "BMRS, Maat-Kievit-Brunner type" "Ohdo syndrome, X-linked, X-linked recessive" @@ -151371,11 +151372,11 @@ "COXPD25" "(2S,3R,4S)-4-[(2S,5R,7S,8R,9S)-2-{(2S,2'R,3'S,5R,5'R)-2-ethyl-5'-[(2S,3S,5R,6R)-6-hydroxy-6-(hydroxymethyl)-3,5-dimethyltetrahydro-2H-pyran-2-yl]-3'-methyloctahydro-2,2'-bifuran-5-yl}-9-hydroxy-2,8-dimethyl-1,6-dioxaspiro[4.5]dec-7-yl]-3-methoxy-2-methylpentanoic acid" "Monensin A" + "(2S)-2-amino-4-(hydroxyphosphinyl)butanoic acid" "Orofaciodigital syndrome, Edwards type" "Oral-facial-digital syndrome type 8" "OFD8" "Oral-facial-digital syndrome, Edwards type" - "(2S)-2-amino-4-(hydroxyphosphinyl)butanoic acid" "acromesomelic dysplasia 2B" "fibular hypoplasia and complex brachydactyly" "Du Pan syndrome" @@ -151678,10 +151679,10 @@ "Abnormality of subcortical white matter" "White matter abnormalities" "Cerebral white matter abnormalities" - "blood serum TNFAIP3-interacting protein 1 amount" "sedoheptulokinase deficiency" "SHPKD" "isolated SHPK deficiency" + "blood serum TNFAIP3-interacting protein 1 amount" "C-X-C motif chemokine 6" "GCP-5 measurement" "granulocyte chemotactic protein 2 measurement" @@ -152096,8 +152097,8 @@ "gonadal primordium" "Pseudoaldosteronism" "Pseudohyperaldosteronism type 1" - "fully-elongated embryo" "Alazami syndrome" + "fully-elongated embryo" "Abnormality of the GI tract" "Abnormality of the gastrointestinal tract" "blood serum MAP6 domain-containing protein 1 amount" @@ -152115,6 +152116,8 @@ "tubulus contortus distalis" "distal convoluted renal tubule" "Tarlov cyst" + "Del(9)(q31.1q31.3)" + "monosomy 9q31.1q31.3" "undifferentiated gallbladder carcinoma" "anaplastic gallbladder carcinoma" "undifferentiated carcinoma of the gallbladder" @@ -152124,19 +152127,17 @@ "gall bladder undifferentiated carcinoma" "undifferentiated carcinoma of gallbladder" "anaplastic carcinoma of the gallbladder" - "Del(9)(q31.1q31.3)" - "monosomy 9q31.1q31.3" "aortic arch 4" "fourth branchial arch artery" "4th arch artery" "fourth aortic arch" "AA4" + "Teebi-Kaurah syndrome" "Del(14)(q11.2)" "chromosome 14q11-q22 deletion syndrome, isolated cases" "monosomy 14q11.2" "14q11.2 microdeletion syndrome" "chromosome 14q11-q22 deletion syndrome" - "Teebi-Kaurah syndrome" "Albright hereditary osteodystrophy-like syndrome" "monosomy 2q37-qter" "brachydactyly intellectual disability syndrome" @@ -152762,6 +152763,10 @@ "encephalopathy, progressive, with amyotrophy and optic atrophy" "blood serum flavin-containing monooxygenase 3 amount" "blood serum leucine-rich repeat transmembrane neuronal protein 2 amount" + "Roberts-SC phocomelia syndrome" + "SC pseudothalidomide syndrome" + "Pseudothalidomide syndrome" + "SC phocomelia" "Descemet membrane" "posterior limiting lamina of cornea" "lamina limitans posterior" @@ -152769,10 +152774,6 @@ "lamina limitans posterior corneae" "posterior limiting membrane" "Descemet's posterior elastic lamina" - "Roberts-SC phocomelia syndrome" - "SC pseudothalidomide syndrome" - "Pseudothalidomide syndrome" - "SC phocomelia" "immature gamma-delta T lymphocyte" "immature gamma-delta T-cell" "immature gamma-delta T-lymphocyte" @@ -153547,11 +153548,11 @@ "RCC_7860" "blood serum vesicle-trafficking protein SEC22a amount" "consortium_member" + "blood serum leukocyte cell-derived chemotaxin-2 amount" "nasal canal" "olfactory cavity" "nasal pit" "nasal cavity" - "blood serum leukocyte cell-derived chemotaxin-2 amount" "Abortion, Incomplete" "regulation of leucocyte activation" "regulation of immune cell activation" @@ -153582,8 +153583,8 @@ "MSLHP" "Geniculate nucleus (body structure)" "rachischisis" - "spina bifida (disease)" "spinal myelomeningocele" + "spina bifida (disease)" "spinal myelocele" "spina bifida" "spinal meningocele" @@ -153682,8 +153683,8 @@ "Index, Toe Brachial" "Ankle-Brachial Index" "Ankle-Brachial Indices" - "Indices, Toe-Brachial" "Toe Brachial Indices" + "Indices, Toe-Brachial" "ABPI" "Brachial Index, Ankle" "Index, Ankle Brachial" @@ -153702,12 +153703,12 @@ "hyperprostaglandin E syndrome" "Bartter syndrome, furosemide type" "Bartter syndrome, furosemide-amiloride type" - "X-linked intellectual disability - seizures - short stature - midface hypoplasia" - "CRTR-D" "Secondary olfactory cortex" "Entorhinal area" "Secondary olfactory cortical area (Carpenter)" "Area 28 of Brodmann (Crosby)" + "X-linked intellectual disability - seizures - short stature - midface hypoplasia" + "CRTR-D" "Retinal vein occlusion" "retinal vein occlusion" "Occlusion, of retinal vein" @@ -154267,8 +154268,8 @@ "Keratosis palmoplantaris varians of Wachters" "Striate palmoplantar keratoderma" "Keratosis palmoplantaris striata et areata" - "disorder of parotid gland" "parotid gland disease" + "disorder of parotid gland" "disease or disorder of parotid gland" "parotid disorder" "disease of parotid gland" @@ -154318,7 +154319,6 @@ "malignant supraglottis neoplasm" "Ca larynx - supraglottis" "malignant neoplasm of the supraglottis" - "Bainbridge-Roppers syndrome" "RosaC/-Dorfman-Destombes disease" "Destombes-Rosaï-Dorfman disease" "SHML" @@ -154328,6 +154328,7 @@ "Rosaï-Dorfman-Destombes disease" "RDD" "Rosai-Dorfman disease" + "Bainbridge-Roppers syndrome" "Game-Friedman-Paradice syndrome" "Headaches" "Headache" @@ -154397,10 +154398,10 @@ "UPD(20)mat" "maternal uniparental disomy of chromosome type 20" "maternal UPD(20)" + "blood serum growth factor receptor-bound protein 10 amount" "Hall-Hittner syndrome" "CHARGE association" "Coloboma - heart defects - atresia choanae - retardation of growth and development - genitourinary problems - ear abnormalities" - "blood serum growth factor receptor-bound protein 10 amount" "elongating embryo" "blood serum mitogen-activated protein kinase 6 amount" "intellectual disability-short stature-hand contractures-genital anomalies syndrome" @@ -155269,9 +155270,9 @@ "Västerbotten dystrophy" "Vasterbotten dystrophy" "Bothnia retinal dystrophy" - "blood serum glucose-6-phosphate 1-dehydrogenase amount" "rubriblast" "colon transversum" + "blood serum glucose-6-phosphate 1-dehydrogenase amount" "N-methyl-N-nitrosomethanamine" "N-Nitrosodimethylamine" "atypical Chediak-Higashi syndrome" @@ -155560,8 +155561,8 @@ "cranial nerve II astrocytoma (excluding glioblastoma)" "astrocytoma of the optic nerve" "optic nerve astrocytoma" - "transcriptional profiling" "blood serum general transcription factor IIE subunit 1 amount" + "transcriptional profiling" "craniosynostosis type 4" "craniosynostosis 4" "ERF craniosynostosis" @@ -155873,9 +155874,9 @@ "xanthinuria, type 1" "xanthinuria type 1" "XAN1" - "Congenital NCL" "dentinal dysplasia" "DD" + "Congenital NCL" "Baller-Gerold syndrome" "ND02579 cell" "phosphatidylcholine O-38:3" @@ -156073,12 +156074,12 @@ "keratosis palmoplantaris-esophageal carcinoma syndrome" "Bennion-Patterson syndrome" "Howell-Evans syndrome" - "Canton S" "Cryptococcus neoformans caused infectious meningitis" "Cryptococcal meningitis" "Cryptococcal meningitis (disorder)" "Cryptococcus neoformans infectious meningitis" "Meningitis, Cryptococcal" + "Canton S" "blood serum tRNA 2'-phosphotransferase 1 amount" "SCA10" "spinocerebellar ataxia type 10" @@ -156694,10 +156695,10 @@ "sterol metabolism" "tumor of mesonephric duct" "neoplasm of mesonephric duct" - "mesonephric duct neoplasm" "mesonephric tumor" - "Wolffian duct tumour" + "mesonephric duct neoplasm" "mesonephric duct tumour" + "Wolffian duct tumour" "tumour of mesonephric duct" "mesonephric neoplasm" "mesonephric tumour" @@ -156746,8 +156747,8 @@ "Gait instability" "8-{(1S,5S)-4-oxo-5-[(2Z)-pent-2-en-1-yl]cyclopent-2-en-1-yl}octanoic acid" "(15Z)-12-Oxophyto-10,15-dienoic acid" - "dihydropteridine reductase activity" "blood Arg-Phe amount" + "dihydropteridine reductase activity" "vortex_mixer" "esophagus disease" "esophagus disease or disorder" @@ -157553,8 +157554,8 @@ "cardiac tuberculosis" "cardiovascular tuberculosis" "benign choroid plexus tumour" - "benign tumour of the choroid plexus" "benign choroid plexus neoplasm" + "benign tumour of the choroid plexus" "benign choroid plexus tumours" "benign tumor of the choroid plexus" "benign choroid plexus tumors" @@ -157597,6 +157598,12 @@ "Holmes-Collins syndrome" "forefin skeleton" "MEPCA" + "vitreous body disease" + "vitreous body disease or disorder" + "vitreous body disorder" + "disorder of vitreous body" + "disease of vitreous body" + "disease or disorder of vitreous body" "Arterial Diseases, External Carotid" "Arterial Diseases, Common Carotid" "carotid artery disorder" @@ -157631,12 +157638,6 @@ "Arterial Disease, Carotid" "Disorders, Carotid Artery" "INTERNAL CAROTID ARTERY DIS" - "vitreous body disease" - "vitreous body disease or disorder" - "vitreous body disorder" - "disorder of vitreous body" - "disease of vitreous body" - "disease or disorder of vitreous body" "blood serum StAR-related lipid transfer protein 5 amount" "caudate putamen" "caudateputamen" @@ -158035,11 +158036,11 @@ "blood vessel of trachea" "Lateral geniculate body" "Lateral geniculate complex" + "foliage leaf, leaf, vascular, vascular leaves" "type II NKT cell" "type II NK T-lymphocyte" "type II NK T-cell" "type II NK T lymphocyte" - "foliage leaf, leaf, vascular, vascular leaves" "BJ-ELR, BJ ELR" "blood serum zinc finger protein 175 amount" "Pancreatic and cerebellar agenesis" @@ -158540,10 +158541,10 @@ "precursor lymphoblastic leukaemia" "precursor cell lymphoblastic leukemia" "precursor Lymphoblasic leukemia" - "infection due to Corynebacterium minutissimum" "Emesis" "Throwing up" "Vomiting" + "infection due to Corynebacterium minutissimum" "GM17292 cell" "acetic acid" "ACETIC ACID" @@ -158687,7 +158688,6 @@ "Hypoplastic scapula" "Scapular hypoplasia" "blood serum zymogen granule membrane protein 16 amount" - "LDS6" "carcinoma of endometrium" "endometrial carcinoma (disease)" "endometrial carcinoma" @@ -158695,6 +158695,7 @@ "carcinoma, endometrial, malignant" "endometrial cancer" "carcinoma of the endometrium" + "LDS6" "Immunodeficiency, severe combined" "blood serum glycogenin-2 amount" "multiple exostosis syndromes" @@ -158721,7 +158722,6 @@ "Skin hyperpigmentation" "Cutaneous hyperpigmentation" "blood serum cancer/testis antigen family 45 member A1 amount" - "benign tumor of appendix" "benign tumor of the appendix" "vermiform appendix benign neoplasm" "benign appendix tumor" @@ -158730,6 +158730,7 @@ "benign tumour of the appendix" "benign appendix neoplasm" "benign neoplasm of the appendix" + "benign tumor of appendix" "cancer of paranasal sinus" "accessory sinus cancer" "carcinoma of the paranasal sinus" @@ -159051,12 +159052,12 @@ "Salmonella enterica VI" "psoriatic arthritis, susceptibility" "psoriatic arthritis, susceptibility to" + "blood serum immunoglobulin superfamily DCC subclass member 4 amount" "pseudo-Morquio disease type I" "DMC disease" "Dyggve-Melchior-Clausen syndrome" "Dyggve Melchior Clausen syndrome" "Dyggve-Melchior-Clausen disease" - "blood serum immunoglobulin superfamily DCC subclass member 4 amount" "Dubin Johnson syndrome" "chronic idiopathic jaundice" "Hyperbilirubinemia type 2" @@ -159671,9 +159672,9 @@ "Congenital erythrocytosis due to erythropoietin receptor mutation" "Familial erythrocytosis" "Primary congenital erythrocytosis" + "blood serum glycine N-acyltransferase-like protein 2 amount" "Norman-Landing disease" "Infantile GM1 gangliosidosis" - "blood serum glycine N-acyltransferase-like protein 2 amount" "hypomagnesemia, seizures, and intellectual disability" "hypomagnesemia, seizures, and mental retardation" "disaccharide intolerance with minimal starch tolerance" @@ -159793,20 +159794,20 @@ "Lactococcus lactis cremoris" "Lactococcus cremoris" "Streptococcus lactis B" - "MRGH" "Bos syndrome" "Bohring-Opitz syndrome" "Oberklaid-Danks syndrome" "Bohring syndrome" "C-like syndrome" "Opitz trigonocephaly-like syndrome" - "Vermian atrophy" - "Atrophy of the cerebellar vermis" - "Atrophy of cerebellar vermis" + "MRGH" "Del(12)(q14)" "Deletion 12q14" "Monosomy 12q14" "Osteopoikilosis - short stature - intellectual disability" + "Vermian atrophy" + "Atrophy of the cerebellar vermis" + "Atrophy of cerebellar vermis" "mental retardation, X-linked, syndromic 9" "intellectual disability, X-linked, syndromic 9" "MRXS9" @@ -159987,9 +159988,9 @@ "cementum" "cementum of tooth" "cement" - "femoral intercalary meromelia, bilateral" "segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome" "SOLAMEN syndrome" + "femoral intercalary meromelia, bilateral" "embryonic ectoderm" "disorder of gastric function" "disorder of function of stomach" @@ -160318,11 +160319,6 @@ "Brown-Squard syndrome" "Brown-Sequard syndrome" "X-linked MSMD" - "Vitreous Fluid, Blood In" - "Blood In Vitreous Fluid," - "Blood In Vitreous" - "vitreous body hemorrhage" - "Vitreous Hemorrhage Fluid" "MUCI-related ADTKD" "MUC1-related autosomal dominant medullary cystic kidney disease" "medullary cystic kidney disease 1" @@ -160332,6 +160328,11 @@ "ADTKD-MUC1" "medullary cystic kidney disease, autosomal dominant" "autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1" + "Vitreous Fluid, Blood In" + "Blood In Vitreous Fluid," + "Blood In Vitreous" + "vitreous body hemorrhage" + "Vitreous Hemorrhage Fluid" "cranio-lenticulo-sutural dysplasia, CLSD" "Boyadjiev-Jabs syndrome" "craniolenticulosutural dysplasia" @@ -160659,8 +160660,8 @@ "Bartter syndrome type III" "Bartter syndrome type 3" "Adult Bartter syndrome" - "Extreme thirst" "blood serum copine-7 amount" + "Extreme thirst" "blood serum neurexophilin-2 amount" "Premature coronary artery disease" "Mongolian Macula" @@ -160741,11 +160742,11 @@ "orofaciodigital syndrome IX" "OFD9" "orofaciodigital syndrome type IX" - "MRKH syndrome" - "Rokitansky syndrome" "KMS12" "KMS-12" "blood serum GDP-L-fucose synthetase amount" + "MRKH syndrome" + "Rokitansky syndrome" "LGMD1E" "blood serum ADP-ribosylation factor 1 amount" "serum AAT measurement" @@ -161074,12 +161075,12 @@ "malnourished" "blood serum B-cell linker protein amount" "TAG 54:2" + "SPG48" "liver fibrosarcoma (disease)" "liver fibrosarcoma" "fibrosarcoma of liver" "hepatic fibrosarcoma" "fibrosarcoma of the liver" - "SPG48" "blood serum DNA (cytosine-5)-methyltransferase 3-like amount" "blood serum prostaglandin-H2 D-isomerase amount" "bile duct neoplasm" @@ -161088,8 +161089,8 @@ "bile duct neoplasm (disease)" "neoplasm of bile duct" "intrahepatic and extrahepatic bile duct neoplasm" - "intrahepatic and extrahepatic bile duct tumor" "bile duct tumor" + "intrahepatic and extrahepatic bile duct tumor" "intrahepatic and extrahepatic bile duct tumour" "bile duct tumour" "congenital dopamine beta-hydroxylase deficiency" @@ -161368,16 +161369,16 @@ "distal anoctaminopathy" "Miyoshi muscular dystrophy type 3" "MMD3" - "colorectal diffuse large B-cell lymphoma" "diffuse large B-cell lymphoma of colorectum" + "colorectal diffuse large B-cell lymphoma" "colorectum diffuse large B-cell lymphoma" "colorectal DLBCL" - "pre-natal developmental toxicity" "UACC.62" "mammalian vulva squamous cell neoplasm" "vulvar squamous neoplasm" "vulvar squamous tumor" "vulvar squamous tumour" + "pre-natal developmental toxicity" "Nievergelt syndrome" "calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia" "familial doughnut lesions of skull" @@ -161624,14 +161625,14 @@ "blood serum probable E3 ubiquitin-protein ligase TRIML1 amount" "Spastic quadriplegic cerebral palsy" "Inherited congenital spastic quadriplegia" - "childhood adrenal gland pheochromocytoma" - "malignant childhood adrenal gland pheochromocytoma" "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness" "EDS, kyphoscoliotic and hearing loss type" "EDS with progressive kyphoscoliosis, myopathy, and deafness" "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" "EDS with progressive kyphoscoliosis, myopathy, and hearing loss" + "childhood adrenal gland pheochromocytoma" + "malignant childhood adrenal gland pheochromocytoma" "L-seryl-L-tyrosyl-L-seryl-L-methionyl-L-alpha-glutamyl-L-histidyl-L-phenylalanyl-L-arginyl-L-tryptophylglycyl-L-lysyl-L-prolyl-L-valylglycyl-L-lysyl-L-lysyl-L-arginyl-L-arginyl-L-prolyl-L-valyl-L-lysyl-L-valyl-L-tyrosyl-L-prolyl-L-alpha-aspartylglycyl-L-alanyl-L-alpha-glutamyl-L-alpha-aspartyl-L-alpha-glutamyl-L-seryl-L-alanyl-L-alpha-glutamyl-L-alanyl-L-phenylalanyl-L-prolyl-L-leucyl-L-alpha-glutamyl-L-phenylalanine" "Corticotropin" "blood serum adhesion G-protein coupled receptor D1 amount" @@ -162568,8 +162569,8 @@ "benign epicardial tumor" "benign neoplasm of the epicardium" "benign epicardial tumour" - "benign epicardial neoplasm" "benign tumor of epicardium" + "benign epicardial neoplasm" "extragonadal seminoma" "extragonadal primary seminoma" "primary extragonadal seminoma" @@ -162659,14 +162660,14 @@ "neoplasm of retroperitoneal space" "retroperitoneal space neoplasm" "tumour of retroperitoneal space" - "phosphatidylcholine 36:0" - "blood serum betaine--homocysteine S-methyltransferase 2 amount" "subcutis" "inflammation of subcutaneous adipose tissue" "Subcutaneous tissue" "subcutaneous adipose tissue inflammation" "Subcutaneous adipose tissue" "panniculitis" + "phosphatidylcholine 36:0" + "blood serum betaine--homocysteine S-methyltransferase 2 amount" "blood serum GDP-mannose 4,6 dehydratase amount" "circulatory system" "Systems, Cardiovascular" @@ -162806,16 +162807,16 @@ "X-linked cone-rod dystrophy type 1" "cone-rod dystrophy, X-linked, 1, X-linked recessive" "cone-rod dystrophy, X-linked, type 1" - "VCAM1 measurement" - "sVCAM-1 measurement" - "soluble vascular cell adhesion molecule-1 measurement" - "VCAM-1 measurement" "leafy spurge" "wolf's milk" "Delay in head control" "Infant head lag" "Poor head control" "Delay in head righting" + "VCAM1 measurement" + "sVCAM-1 measurement" + "soluble vascular cell adhesion molecule-1 measurement" + "VCAM-1 measurement" "Del(15)(q24)" "Monosomy 15q24" "extrahepatic bile duct in situ carcinoma" @@ -162834,7 +162835,6 @@ "CORL-23" "chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis" "rapidly progressive glomerulonephritis, chronic" - "blood serum centrosomal protein of 41 kDa amount" "Glycogenosis type Ib" "G6P translocase deficiency" "Glycogenosis due to glucose-6-phosphatase transport defect" @@ -162848,6 +162848,7 @@ "GSD due to G6P deficiency type b" "Glycogenosis due to glucose-6-phosphatase deficiency type b" "GSD type 1b" + "blood serum centrosomal protein of 41 kDa amount" "legionnaire disease, susceptibility to" "hydrogen pyridine-2,3-dicarboxylate" "combined lung cancer" @@ -163208,8 +163209,8 @@ "Ascaridia caused disease or disorder" "Ascaridia infectious disease" "infection by Ascaridia" - "ascaridiasis" "Ascaridia disease or disorder" + "ascaridiasis" "Ascaridiasis" "PMsA" "nail disorder, nonsyndromic congenital" @@ -163221,13 +163222,13 @@ "benign reproductive system neoplasm" "blood serum perilipin-3 amount" "PAPB" + "Monosomy 9p13" + "Del(9)(p13)" "pancreatic adenocarcinoma" "adenocarcinoma - pancreas" "pancreas adenocarcinoma" "adenocarcinoma of pancreas" "adenocarcinoma of the pancreas" - "Monosomy 9p13" - "Del(9)(p13)" "blood serum large ribosomal subunit protein mL52 amount" "pilocytic astrocytoma of the cerebellum" "cerebellum pilocytic astrocytoma" @@ -163362,10 +163363,10 @@ "inherited disorder of thyroid metabolism" "rare inborn error of thyroid hormone metabolic process" "inborn thyroid hormone metabolic process disorder" + "necrobiosis lipoidica" "blood serum Bcl-2-like protein 10 amount" "aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome" "aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome" - "necrobiosis lipoidica" "Indian" "Hindu" "Asian Indians" @@ -163376,17 +163377,17 @@ "Crystalline stromal dystrophy" "Schnyder crystalline corneal dystrophy" "lateral cord surface glia" + "ML DmD16 c3" + "DmD16_c3" + "D16-c3" + "DmD16-c3" + "ML_DmD16_c3" "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome" "Cernunnos XLFD" "NHEJ1 deficiency" "Cernunnos-XLF deficiency" "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome" "Cernunnos deficiency" - "ML DmD16 c3" - "DmD16_c3" - "D16-c3" - "DmD16-c3" - "ML_DmD16_c3" "GVHDS" "adult visceral muscle" "JEB2B" @@ -163823,11 +163824,11 @@ "epidermolysis bullosa hereditaria" "RGC6" "RCB2854" - "IDMDC" "Rash acneiform" "acneiform eruptions" "acneiform eruption" "acneiform dermatitis" + "IDMDC" "peripheral nerve lesion of ulnar nerve" "ulnar nerve peripheral nerve lesion" "lesion of ulnar nerve" @@ -164065,8 +164066,8 @@ "radiation-induced gastrointestinal syndrome" "radiation-induced gastrointestinal injury" "radiotherapy-induced gut toxicity (RIGT)" - "radiotherapy-induced gut toxicity" "radiation-mediated gastrointestinal (GI) toxicity" + "radiotherapy-induced gut toxicity" "radiation-induced intestinal injury" "ionising-radiation-induced gastrointestinal syndrome" "EasySep live/dead separation" @@ -164137,7 +164138,6 @@ "SURF1-related severe demyelinating Charcot-Marie-Tooth disease" "blood serum translin amount" "blood serum Ras-related protein Rab-2A amount" - "common hematopoietic tumor" "CMTMA1" "malignant melanoma of retina" "malignant retinal melanoma" @@ -164148,6 +164148,7 @@ "melanoma of retina" "malignant melanoma of the retina" "retina melanoma (disease)" + "common hematopoietic tumor" "phosphatidylcholine 36:3" "genetic epidermal appendage anomaly" "XLTT" @@ -164253,8 +164254,8 @@ "colorectal carcinoid tumor" "grade 1 neuroendocrine neoplasm of colorectum" "colorectum neuroendocrine tumor, well differentiated, low grade" - "colorectal neuroendocrine tumor G1" "colorectum NET G1" + "colorectal neuroendocrine tumor G1" "tertiary bronchus" "nodule" "MRD26" @@ -164314,10 +164315,11 @@ "hepatopancreatic ampulla adenosquamous carcinoma" "NCI-H322" "H322T" - "Agnosia" - "T.DP69+.Th" "Friend Virus B NIH" "FVB/N-Pde6b^rd1" + "Agnosia" + "T.DP69+.Th" + "LGMD due to POMK deficiency" "myotonic dystrophy caused by mutation in CNBP" "ricker syndrome" "proximal myotonic dystrophy" @@ -164325,7 +164327,6 @@ "ricker disease" "proximal myotonic myopathy" "myotonic dystrophy type 2" - "LGMD due to POMK deficiency" "blood serum UDP-glucuronosyltransferase 1-6 amount" "psychogenic amnesia" "Cafe au lait spots" @@ -164757,11 +164758,11 @@ "PTORCH3" "PSEUDO-TORCH SYNDROME 3" "blood serum hepatocyte nuclear factor 4-alpha amount" - "Hemoglobin G Coushatta/Total Hemoglobin" - "HBGCHTHB" "Acrocephalosyndactyly type 3" "ACS3" "SCS" + "Hemoglobin G Coushatta/Total Hemoglobin" + "HBGCHTHB" "avocado" "Persea americanum" "anti-ANO2 antibody" @@ -165062,9 +165063,9 @@ "congenital aphakia" "congenital absence of lens" "aphakia, congenital primary" + "phosphatidylcholine 42:6" "stromal corneal pigmentation" "stromal corneal pigmentations" - "phosphatidylcholine 42:6" "3-sulfanyl-D-valine" "(2S)-2-amino-3-methyl-3-sulfanylbutanoic acid" "blood serum single Ig IL-1-related receptor amount" @@ -165169,9 +165170,9 @@ "Diaphragmatic Eventration" "diaphragmatic eventration (disease)" "diaphragmatic eventration" - "chromatin interaction analysis by paired-end tag sequencing" "blood serum peptidyl-prolyl cis-trans isomerase FKBP5 amount" "asbestos" + "chromatin interaction analysis by paired-end tag sequencing" "Del(2)(q32)" "chromosome 2q32-q33 deletion syndrome" "Del(2)(q32q33)" @@ -165420,7 +165421,6 @@ "blood serum polypeptide N-acetylgalactosaminyltransferase 11 amount" "blood serum lipocalin-1 amount" "blood serum carbonic anhydrase 5B, mitochondrial amount" - "SPOAN" "intellectual developmental disorder, autosomal recessive 57" "intellectual disability, autosomal recessive type 57" "autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7" @@ -165429,11 +165429,12 @@ "mental retardation, autosomal recessive type 57" "MBOAT7 autosomal recessive non-syndromic intellectual disability" "mental retardation, autosomal recessive 57" - "Digital RNA Sequencing" + "SPOAN" "oculocutaneous albinism, type VIII" "OCA8" "oculocutaneous albinism, type 8" "CD7-positive lymphoid precursor" + "Digital RNA Sequencing" "CD38- naive B-lymphocyte" "CD38-negative naive B-cell" "CD38- naive B cell" @@ -165560,6 +165561,8 @@ "Netherton syndrome" "blood serum netrin-G1 amount" "A2008" + "brachydactyly-joint dysplasia syndrome" + "Liebenberg syndrome" "disease of supporting structures of teeth" "disease or disorder of periodontium" "periodontal disorder" @@ -165569,18 +165572,16 @@ "periodontal disease" "periodontium disease" "disorder of periodontium" - "brachydactyly-joint dysplasia syndrome" - "Liebenberg syndrome" "melanoma, cutaneous malignant, susceptibility to, 3" "melanoma, cutaneous malignant, susceptibility to, type 3" "melanoma, cutaneous malignant, 3" - "nerve plexus disorder" "disease or disorder of nerve plexus" "disease of nerve plexus" "nerve plexus disease" "disorder of nerve plexus" "plexopathy" "nerve plexus disease or disorder" + "nerve plexus disorder" "blood serum ADP-ribosylation factor-like protein 1 amount" "mitral valve prolapse, myxomatous 2" "MMVP2" @@ -167042,8 +167043,8 @@ "Human immunodeficiency virus infection" "[X]Unspecified human immunodeficiency virus [HIV] disease" "Unspecified human immunodeficiency virus [HIV] disease (disorder)" - "HIV infectious disease" "HTLV III LAV Infections" + "HIV infectious disease" "HTLV-III-LAV Infection" "[X]Unspecified human immunodeficiency virus [HIV] disease (disorder)" "[X]Human immunodeficiency virus disease (disorder)" @@ -167091,13 +167092,13 @@ "hyperlipidemia (disease)" "Abnormality of the toenails" "Abnormality of the toenail" + "response to Opdivo" "Occidental" "Caucasians" "White" "Whites" "European" "Caucasoid" - "response to Opdivo" "spinocerebellar ataxia 42" "SCA42" "spinocerebellar ataxia type 42" @@ -167368,7 +167369,6 @@ "B2 B cell" "B2 B lymphocyte" "blood serum cadherin-17 amount" - "neoplasm of the dermis" "dermis tumor" "dermis neoplasm" "dermis neoplasm (disease)" @@ -167380,6 +167380,7 @@ "tumour of dermis" "tumour of the dermis" "dermal tumor" + "neoplasm of the dermis" "tumour of the iris" "tumor of the iris" "neoplasm of iris" @@ -167534,12 +167535,6 @@ "Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia" "ARCMT2-NM" "ARAN-NM" - "Carnitine transporter defect" - "CUD" - "PCD" - "Carnitine uptake deficiency" - "Primary systemic carnitine deficiency" - "Deficiency of plasma-membrane carnitine transporter" "invasive carcinoma of the breast" "invasive carcinoma of breast" "infiltrating carcinoma of breast" @@ -167552,6 +167547,12 @@ "Sleep apnoea" "Pauses in breathing while sleeping" "Sleep apnea" + "Carnitine transporter defect" + "CUD" + "PCD" + "Carnitine uptake deficiency" + "Primary systemic carnitine deficiency" + "Deficiency of plasma-membrane carnitine transporter" "zeta-associated-protein 70 deficiency" "hereditary spastic paraplegia type 35" "SPG35" @@ -167642,6 +167643,7 @@ "distal duplication 4p" "trisomy 4pter" "telomeric duplication 4p" + "TAR syndrome" "blood serum small integral membrane protein 13 amount" "medullary carcinoma of thyroid gland" "C cell carcinoma" @@ -167663,7 +167665,6 @@ "medullary thyroid carcinoma" "medullary carcinoma" "GM17251 cell" - "TAR syndrome" "5-C" "CMT2HH" "age colorectal cancer symptoms begin" @@ -168366,8 +168367,8 @@ "acquired immune deficiency" "Acquired immunodeficiency syndrome, NOS" "IMMUNOL DEFIC SYNDROME ACQUIRED" - "ACQUIRED IMMUNO DEFIC SYNDROME" "AIDS, ACQUIRED IMMUNODEFICIENCY SYNDROME" + "ACQUIRED IMMUNO DEFIC SYNDROME" "AIDS (disorder)" "AIDS" "Immunologic Deficiency Syndrome, Acquired" @@ -168504,8 +168505,8 @@ "placenta disease or disorder" "placenta diseases" "disease or disorder of placenta" - "disorder of placenta" "disease of placenta" + "disorder of placenta" "placenta disorder" "placenta disease" "Coffin-Siris syndrome caused by mutation in SMARCA4" @@ -168645,14 +168646,14 @@ "posterior polymorphous dystrophy" "Ring chromosome type 10" "blood serum DCN1-like protein 2 amount" - "Monosomy 10q22.3q23.3" - "Deletion 10q22.3q23.3" - "Del(10)(q22.3q23.3)" "mammalian vulva polyp" "vulvar polyp" "polyp of the vulva" "vulva polyp" "tympanitis, chronic" + "Monosomy 10q22.3q23.3" + "Deletion 10q22.3q23.3" + "Del(10)(q22.3q23.3)" "uveal tumour" "uvea tumour" "neoplasm of uvea" @@ -168946,9 +168947,9 @@ "decreased anxiety" "reduced anxiety" "blood serum G-protein coupled receptor 135 amount" + "blood serum PRA1 family protein 3 amount" "mitochondrial" "Mitochondrial" - "blood serum PRA1 family protein 3 amount" "blood serum Phosphatidylethanolamine (O-18:1_18:2) amount" "Pachycladon Hook.f." "phenyl hydrogen sulfate" @@ -168959,6 +168960,8 @@ "congenital pulmonary lymphangiectasis" "Diffuse Pulmonary Lymphangiomatosis" "pulmonary lymphangiomatosis" + "papillary cystadenoma" + "cystadenoma, papillary, benign" "Incorrect relation between upper and lower dental arches" "Misalignment of upper and lower dental arches" "Malocclusion of teeth" @@ -168968,8 +168971,6 @@ "Malalignment of upper and lower dental arches" "Bilateral crossbite" "Malocclusion" - "papillary cystadenoma" - "cystadenoma, papillary, benign" "(1->3)-beta-D-glucopyranan" "blood serum 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 amount" "genochondromatosis" @@ -169161,15 +169162,15 @@ "blood serum homer protein homolog 2 amount" "Chromium Single Cell Multiome ATAC + Gene Expression" "TAG 56:10" + "Haemorrhagic disorders" + "Coagulation abnormality" + "Coagulation abnormalities" + "Abnormal blood coagulation studies" "glycine encephalopathy" "NKA" "Nonketotic Hyperglycinemia" "non-ketotic hyperglycinemia" "nonketotic hyperglycinemia" - "Haemorrhagic disorders" - "Coagulation abnormality" - "Coagulation abnormalities" - "Abnormal blood coagulation studies" "blood serum cytosolic Fe-S cluster assembly factor NUBP1 amount" "blood serum beta-defensin 104 amount" "transverse myelopathy syndrome" @@ -169511,12 +169512,12 @@ "idiopathic and/or familial pulmonary arterial hypertension" "pulmonary hypertension, primary, type 1" "IFPAH" + "Monosomy 15q11.2" + "Del(15)(q11.2)" "blood serum tryptophan--tRNA ligase, mitochondrial amount" "occlusion and stenosis of carotid artery" "carotid artery segment occlusion precerebral artery" "occlusion precerebral artery of carotid artery segment" - "Monosomy 15q11.2" - "Del(15)(q11.2)" "U3118" "dental disorder" "calcareous tooth disease" @@ -169558,10 +169559,6 @@ "vision loss" "visual impairment" "vision impairment" - "ovary embryonal carcinoma" - "embryonal carcinoma of ovary" - "embryonal carcinoma of the ovary" - "ovarian embryonal carcinoma" "tumour of the pituitary" "tumour of pituitary" "pituitary tumor" @@ -169579,6 +169576,10 @@ "neoplasm of pituitary" "neoplasm of the pituitary gland" "neoplasm of pituitary gland" + "ovary embryonal carcinoma" + "embryonal carcinoma of ovary" + "embryonal carcinoma of the ovary" + "ovarian embryonal carcinoma" "ureter transitional cell carcinoma" "ureteral transitional cell carcinoma" "ureter urothelial cancer" @@ -169859,6 +169860,8 @@ "HARDEROPORPHYRIA" "geographic atrophy" "dry macular degeneration" + "age major depressive disorder symptoms begin" + "age at onset of major depressive disorder" "oesophagus squamous papilloma" "esophagus squamous cell papilloma" "squamous cell papilloma of the esophagus" @@ -169867,8 +169870,6 @@ "esophagus squamous papilloma" "squamous cell papilloma of oesophagus" "squamous cell papilloma of the oesophagus" - "age major depressive disorder symptoms begin" - "age at onset of major depressive disorder" "blood serum alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C amount" "blood serum interleukin-27 receptor subunit alpha amount" "Mosaic variegated aneuploidy syndrome 1" @@ -170399,20 +170400,20 @@ "benign neoplasm of the synovium" "benign tumor of synovium" "benign tumour of the synovium" + "AS syndrome" + "antisynthetase syndrome" + "Anti-Jo1 syndrome" + "Anti-Synthetase Syndrome" + "anti-Jo1 syndrome" "immunodeficiency 106, susceptibility to viral infections" "IFNAR1 deficiency" "IMD106" "three spined stickleback" "three-spined stickleback" "Gasterosteus aculeatus Linnaeus, 1758" - "AS syndrome" - "antisynthetase syndrome" - "Anti-Jo1 syndrome" - "Anti-Synthetase Syndrome" - "anti-Jo1 syndrome" + "TAG 56:2" "partial duplication/triplication of chromosome 18" "partial trisomy/tetrasomy of chromosome type 18" - "TAG 56:2" "5-HTT brain serotonin transporter levels" "penis sarcoma" "sarcoma of the penis" @@ -170855,6 +170856,7 @@ "Tricho-hepato-enteric syndrome" "Syndromatic diarrhea" "SD/THE" + "Cryptophthalmos-syndactyly syndrome" "smoldering plasma cell myeloma" "smouldering multiple myeloma" "asymptomatic myeloma" @@ -170864,7 +170866,6 @@ "smouldering Multiple myeloma/plasma cell myeloma" "smouldering myeloma" "asymptomatic plasma cell myeloma" - "Cryptophthalmos-syndactyly syndrome" "Toriello syndrome" "Lassa fever" "LF" @@ -171445,9 +171446,9 @@ "neurilemmoma of trigeminal nerve" "trigeminal neurilemmoma" "schwannoma of trigeminal nerve" + "trigeminal schwannoma" "schwannoma of the trigeminal nerve" "fifth cranial nerve schwannoma" - "trigeminal schwannoma" "neurilemmoma of the fifth cranial nerve" "mother's milk" "breast milk" @@ -171487,11 +171488,6 @@ "compound_treatment_design" "4-{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino}benzoic acid" "blood serum Rab11 family-interacting protein 3 amount" - "hemopericardium" - "Pericardial Effusion" - "haemopericardium" - "hemopericardium (disease)" - "Haemopericardium" "epileptic encephalopathy, early infantile, type 41" "early infantile epileptic encephalopathy caused by mutation in SLC1A2" "developmental and epileptic encephalopathy 41" @@ -171502,6 +171498,11 @@ "EIEE41" "SLC1A2 early infantile epileptic encephalopathy" "High stepping" + "hemopericardium" + "Pericardial Effusion" + "haemopericardium" + "hemopericardium (disease)" + "Haemopericardium" "dilated cardiomyopathy type 1JJ" "LAMA4 familial isolated dilated cardiomyopathy" "familial isolated dilated cardiomyopathy caused by mutation in LAMA4" @@ -171547,6 +171548,7 @@ "LAPC9" "HCC-15" "inherited cardiac arrthythmia" + "Braddock-Carey syndrome" "GM17256 cell" "congenital bile acid synthesis defect type 5" "bile acid synthesis defect, congenital, type 5" @@ -171555,7 +171557,6 @@ "CBAS5" "ABCD3 congenital bile acid synthesis defect" "fracture-related traits" - "Braddock-Carey syndrome" "blood serum Jun dimerization protein 2 amount" "blood serum apolipoprotein L2 amount" "Francisella tularensis subsp. holarctica strain LVS" @@ -171724,11 +171725,11 @@ "BCA-1 measurement" "blood serum 26S proteasome non-ATPase regulatory subunit 4 amount" "Bologna-0" - "blood serum ecto-NOX disulfide-thiol exchanger 2 amount" "malignant neoplasm of respiratory system" "respiratory system cancer" "cancer of respiratory system" "malignant respiratory system neoplasm" + "blood serum ecto-NOX disulfide-thiol exchanger 2 amount" "blood serum CD34 molecule amount" "dodecanedioate" "GM17852 cell" @@ -172243,10 +172244,10 @@ "vulvar leiomyosarcoma" "mammalian vulva leiomyosarcoma" "blood serum DNA-binding protein SATB1 amount" - "phosphatidylcholine O-38:0" "Extreme sensitivity of the eyes to light" "Photodysphoria" "Light hypersensitivity" + "phosphatidylcholine O-38:0" "blood serum myocardial zonula adherens protein amount" "maternal uniparental disomy of chromosome type 14" "UPD(14)mat" @@ -173168,6 +173169,8 @@ "TNDM" "transient neonatal diabetes mellitus (disease)" "transient neonatal diabetes mellitus" + "alopecia-progressive neurological defect-endocrinopathy syndrome" + "ANE syndrome" "bone of upper jaw tumor" "neoplasm of bone of upper jaw" "tumour of bone of upper jaw" @@ -173176,8 +173179,6 @@ "tumor of bone of upper jaw" "maxillary neoplasm" "bone of upper jaw neoplasm" - "alopecia-progressive neurological defect-endocrinopathy syndrome" - "ANE syndrome" "XPE" "xeroderma pigmentosum, complementation group type E" "xeroderma pigmentosum V" @@ -173472,8 +173473,8 @@ "cardiac germ cell tumor" "heart germ cell tumour" "heart germ cell tumor" - "Balikova-Vermeesch syndrome" "nitrogen" + "Balikova-Vermeesch syndrome" "blood serum thrombospondin type-1 domain-containing protein 1 amount" "GM13883 cell" "dye_swap_design" @@ -173745,8 +173746,8 @@ "mammary gland size" "Testicular degeneration" "blood serum DNA-binding protein SATB2 amount" - "rhinopharynx epithelium" "epithelial tissue of rhinopharynx" + "rhinopharynx epithelium" "nasal part of pharynx epithelium" "nasal part of pharynx epithelial tissue" "nasopharynx epithelial tissue" @@ -174077,11 +174078,11 @@ "Stroke" "Cerebral vascular events" "Cerebrovascular accident" + "HEDH syndrome" + "another syndrome" "adjustment disease" "adjustment disorder" "adjustment reaction" - "HEDH syndrome" - "another syndrome" "4-(acetyloxy)-2-aminobutanoic acid" "O-Acetylhomoserine" "trunk muscle" @@ -174127,8 +174128,8 @@ "tumor of major vestibular gland" "Bartholin gland neoplasm" "tumour of major vestibular gland" - "major vestibular gland tumor" "tumour of Bartholin's gland" + "major vestibular gland tumor" "major vestibular gland neoplasm (disease)" "Bartholin's gland tumor" "tumour of the Bartholin's gland" @@ -174748,9 +174749,6 @@ "Helicobacter Infections" "Helicobacter Pylori Infection" "Helicobacter pylori infectious disease" - "kidney inflammation" - "nephritis" - "inflammation of kidney" "focal epilepsy-intellectual disability-dysarthria-ataxia syndrome" "Sphingomonas wittichii strain RW1" "Sphingomonas wittichii DSM 6014" @@ -174758,6 +174756,9 @@ "Sphingomonas sp. RW1" "Degos genodermatosis \"en cocardes\"" "Degos genodermatosis" + "kidney inflammation" + "nephritis" + "inflammation of kidney" "dSMA4" "autosomal recessive distal spinal muscular atrophy type 4" "distal spinal muscular atrophy type 4" @@ -175350,12 +175351,12 @@ "statoacoustic ganglion" "statoacoustic (VIII) ganglion" "auditory ganglion" - "acrorenal syndrome" "ovarian Wilms' tumor" "ovarian Wilms tumor" "ovarian Wilms' tumour" "ovary Wilms tumor" "ovary Wilms tumour" + "acrorenal syndrome" "Iran (Islamic Republic of)"@en "Iran (Islamic Republic of)" "chromosome Xq28 duplication syndrome" @@ -175411,9 +175412,9 @@ "hereditary crystalline stromal dystrophy of Schnyder" "SCD" "SCCD" + "Verheij syndrome" "PXE" "Gronblad-Strandberg-Touraine syndrome" - "Verheij syndrome" "blood serum serpin B4 amount" "blood serum V(D)J recombination-activating protein 1 amount" "nodular heterotopia" @@ -175444,15 +175445,15 @@ "SSPCS" "sessile serrated polyposis cancer syndrome; SSPCS" "sessile serrated polyposis cancer syndrome" + "isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF" + "breasts and/or nipples, aplasia or hypoplasia of, type 2" + "breasts and/or nipples, aplasia or hypoplasia of, 2" + "PTPRF isolated congenital breast hypoplasia/aplasia" "familial hypocalciuric hypercalcemia type 2" "hypocalciuric hypercalcemia type II" "hpocalciuric hypercalcemia, type II" "HHC2" "FHH type 2" - "isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF" - "breasts and/or nipples, aplasia or hypoplasia of, type 2" - "breasts and/or nipples, aplasia or hypoplasia of, 2" - "PTPRF isolated congenital breast hypoplasia/aplasia" "blood serum histone deacetylase 6 amount" "blood serum josephin-1 amount" "alpha-beta T-cell" @@ -175736,7 +175737,6 @@ "Blind loop syndrome" "bacterial overgrowth syndrome" "stasis syndrome" - "blood serum methionine aminopeptidase 1D, mitochondrial amount" "epithelio-lymphoid tissue" "MALT" "mucosa associated lymphatic tissue" @@ -175744,6 +175744,7 @@ "mucosa-associated lymphoid tissue" "mucosal-associated lymphatic tissue" "mucosa associated lymphoid tissue" + "blood serum methionine aminopeptidase 1D, mitochondrial amount" "blood serum nucleoplasmin-2 amount" "hemolytic-uremic syndrome without diarrhoea with DGKE deficiency" "aHUS with DGKE deficiency" @@ -175756,8 +175757,8 @@ "Bartonella koehlerae Droz et al. 2000" "proximal free limb segment" "stylopodial limb segment" - "stylopodium" "propodium" + "stylopodium" "PRTH" "acinar prostate adenocarcinoma, foamy gland variant" "manganese poisoning" @@ -176115,10 +176116,10 @@ "acral lentiginous melanoma" "acral lentiginous melanoma, malignant (morphologic abnormality)" "acral lentiginous melanoma (disease)" + "intra cranial volume measurement" "neurodevelopmental disorder with severe motor impairment and absent language" "neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome" "blood serum integrin-linked kinase-associated serine/threonine phosphatase 2C amount" - "intra cranial volume measurement" "EOCA" "Harding ataxia" "EOCARR" @@ -176341,13 +176342,13 @@ "Johnson syndrome" "blood serum dual specificity tyrosine-phosphorylation-regulated kinase 2 amount" "iatrogenic disorder" - "interventricular septum of heart" - "interventriculare cordis" - "ventricular septum" "floor of mouth mucoepidermoid carcinoma" "mouth floor mucoepidermoid carcinoma" "mucoepidermoid carcinoma of the floor of mouth" "mucoepidermoid carcinoma of floor of mouth" + "interventricular septum of heart" + "interventriculare cordis" + "ventricular septum" "uterine ligament clear cell adenocarcinoma" "PEX5 related Zellweger spectrum disorder" "peroxisome biogenesis disorder due to PEX5 defect" @@ -177092,14 +177093,14 @@ "choreatic disease" "choreia" "benign familial chorea" + "cardiac tamponade" + "pericardial tamponade" + "rose's tamponade" "undifferentiated esophageal carcinoma" "oesophagus undifferentiated carcinoma" "esophagus undifferentiated carcinoma" "undifferentiated esophageal cancer" "esophageal undifferentiated carcinoma" - "cardiac tamponade" - "pericardial tamponade" - "rose's tamponade" "cystinosis" "cystine storage disease" "Protein defect of cystin transport" @@ -177147,12 +177148,12 @@ "Lumbago" "Lower back pain" "LBP" + "blood serum protein SCO2, mitochondrial amount" "Cyanothece sp. BH68" "Cyanothece sp. BH68K" "Cyanothece (strain ATCC 51142)" "Cyanothece ATCC51142" "Cyanothece 51142" - "blood serum protein SCO2, mitochondrial amount" "blood serum keratin, type II cytoskeletal 1 amount" "ICE syndrome" "MOTOR NEURON DIS AMYOTROPHIC LATERAL SCLEROSIS" @@ -177243,8 +177244,8 @@ "TIIAC" "blood serum transcriptional activator protein Pur-beta amount" "CNS disorder" - "disorder of central nervous system" "central nervous system disorder" + "disorder of central nervous system" "central nervous system disease or disorder" "disease or disorder of central nervous system" "disease of the central nervous system" @@ -177394,11 +177395,11 @@ "ARMD11" "TKT deficiency" "short stature-developmental delay-congenital heart defect syndrome" - "TAG 58:9" "MRD72" "autosomal dominant intellectual developmental disorder-72" "SRRM2-related neurodevelopmental disorder" "developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome" + "TAG 58:9" "dengue virus, susceptibility to" "4-hydroxy-3-methoxybenzoate" "vanillate" @@ -177416,9 +177417,9 @@ "Nystagmus, Congenital" "congenital idiopathic nystagmus" "congenital pathologic nystagmus" - "Cone rod dystrophy - amelogenesis imperfecta" "mitochondrial myopathy with lactic acidosis" "mitochondrial myopathy-lactic acidosis-hearing loss syndrome" + "Cone rod dystrophy - amelogenesis imperfecta" "cerebral amyloid angiopathy" "hereditary cerebral hemorrhage with amyloidosis - Dutch type" "HCHWA" @@ -177749,9 +177750,9 @@ "adenocarcinoma of the vagina" "vagina adenocarcinoma" "blood serum transmembrane protease serine 11A amount" + "Calver-0" "10X 5' v1" "10x 5' v1" - "Calver-0" "GM17162 cell" "P1 dorTra" "embryonic dorsal trunk" @@ -177775,8 +177776,8 @@ "malignant neoplasm of the urethra" "urethra cancer" "malignant urethra neoplasm" - "malignant neoplasm of urethra" "malignant tumour of urethra" + "malignant neoplasm of urethra" "malignant urethral tumour" "cancer of urethra" "Familial keratoconus with cataract" @@ -177827,11 +177828,11 @@ "METHANOL" "Methanol" "methanol" + "Anatomical Therapeutic Chemical Classification System" "BDPLT19" "PRKACG isolated hereditary giant platelet disorder" "severe autosomal recessive macrothrombocytopenia" "isolated hereditary giant platelet disorder caused by mutation in PRKACG" - "Anatomical Therapeutic Chemical Classification System" "melanocytic neoplasm of the central nervous system" "central nervous system melanocytic neoplasms" "melanocytic neoplasm of CNS" @@ -177931,11 +177932,11 @@ "Paroxysmal Sleep" "narcolepsy type 2" "Sleep, Paroxysmal" - "glucuronate" "Viruses caused labyrinthitis" "Viruses labyrinthitis" "epidemic vertigo (finding)" "epidemic vertigo" + "glucuronate" "K" "blood serum complement C4-B amount" "blood serum pregnancy-specific beta-1-glycoprotein 1 amount" @@ -178001,8 +178002,8 @@ "ES derived NSC" "syndrome associated with lymphedema" "syndromic lymphedema" - "MM1" "IgR-37" + "MM1" "blood serum bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial amount" "Pfeiffer-Mayer syndrome" "MHBD deficiency, neonatal type" @@ -178209,8 +178210,8 @@ "colonic mucous membrane" "colon mucosa" "fallopian tube serous adenocarcinoma" - "laryngeal diphtheria" "Iron-refractory iron deficiency anemia" + "laryngeal diphtheria" "Ehlers-Danlos syndrome, spondylodysplastic type, 2" "Beta3GalT6-deficient EDS" "Ehlers-Danlos syndrome, progeroid type, 2" @@ -178642,20 +178643,20 @@ "8-methoxy-6-nitro-2H-phenanthro[3,4-d][1,3]dioxole-5-carboxylic acid" "blood serum retina-specific copper amine oxidase amount" "Ladda-Zonana-Ramer syndrome" - "vascular brain injury" "C-beta-thalassemia" "HBC-beta-thalassemia syndrome" "Zaire Ebola virus" "ZEBOV" + "vascular brain injury" "combined defect in adenosylcobalamin and methylcobalamin synthesis" "methylmalonic aciduria with homocystinuria" "Gerlach's tubal tonsil" "eustachian amygdala" "auditory tube lymph gland" "Gerlach's tonsil" - "Caco2" "blood serum ubiquitin carboxyl-terminal hydrolase 11 amount" "gestation" + "Caco2" "corticosterone methyloxidase deficiency type I" "aldosterone synthase deficiency" "18-hydroxylase deficiency" @@ -178890,10 +178891,10 @@ "MAP" "dHMN7" "distal spinal muscular atrophy with vocal cord paralysis" + "radio-ulnar fusion, bilateral" "2-amino-3-phenylpropanoic acid" "phenylalanine" "Phenylalanine" - "radio-ulnar fusion, bilateral" "ventriculoarterial and atrioventricular discordance" "levo-transposition of the great arteries" "L-transposition of the great arteries" @@ -179199,15 +179200,15 @@ "blood serum leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 amount" "Halal syndrome" "blood serum pregnancy zone protein amount" - "myopathy, tubular aggregate, 2" - "tubular aggregate myopathy caused by mutation in ORAI1" - "myopathy, tubular aggregate, type 2" - "ORAI1 tubular aggregate myopathy" "arthritides" "skeletal joint inflammation" "inflammation of skeletal joint" "arthritis" "arthritic joint disease" + "myopathy, tubular aggregate, 2" + "tubular aggregate myopathy caused by mutation in ORAI1" + "myopathy, tubular aggregate, type 2" + "ORAI1 tubular aggregate myopathy" "2,3-bis(acyloxy)propyl 2-(trimethylammonio)ethyl phosphate" "HPV-related penile squamous cell carcinoma" "human papillomavirus-related penile squamous cell carcinoma" @@ -179285,11 +179286,11 @@ "Salmonella enterica subsp. enterica serovar Typhimurium strain LT2-LTL2" "Salmonella enterica subsp. enterica serovar Typhimurium strain LT2" "Salmonella typhimurium LT2" + "blood serum uroporphyrinogen decarboxylase amount" "phenylketonuric embryopathy" "maternal PKU" "maternal hyperphenylalaninemia" "hyperphenylalaninemic embryopathy" - "blood serum uroporphyrinogen decarboxylase amount" "HMG-CoA lyase deficiency" "deficiency of hydroxymethylglutaryl-CoA lyase" "3-OH 3-Methyl glutaric aciduria" @@ -179360,15 +179361,15 @@ "ovarian small cell carcinoma" "ovarian small cell NEC" "insulin disposition index measurement" + "8-chloro-11-(4-methylpiperazin-1-yl)-5H-dibenzo[b,e][1,4]diazepine" + "Clozapine" + "4-hydroxybenzoate" + "blood serum carbonic anhydrase 5A, mitochondrial amount" "eosinophil count as percentage of total white blood cells" "eosinophil percentage" "eosinophil percentage of white cells" "blood eosinophil count to total leukocyte count ratio" "eosinophil count to total WBC count ratio" - "8-chloro-11-(4-methylpiperazin-1-yl)-5H-dibenzo[b,e][1,4]diazepine" - "Clozapine" - "4-hydroxybenzoate" - "blood serum carbonic anhydrase 5A, mitochondrial amount" "blood serum junctophilin-4 amount" "Hypopigmentation" "Patchy lightened skin" @@ -179389,6 +179390,7 @@ "carcinoma of the eyelid" "HIBM4" "blood serum procollagen galactosyltransferase 1 amount" + "Christian-Rosenberg syndrome" "ALT" "well-differentiated liposarcoma" "well differentiated liposarcoma of deep soft tissue" @@ -179396,7 +179398,6 @@ "well differentiated liposarcoma" "atypical lipoma" "atypical lipomatous tumor" - "Christian-Rosenberg syndrome" "neurocranial trabeculae" "trabecula" "trabecular cartilage" @@ -179636,9 +179637,9 @@ "thymoma malignant invasive" "large pre-BII cell" "GM17825 cell" - "PNGase" "thanatophoric dwarfism" "Td" + "PNGase" "Detroit 562" "D562" "Det562" @@ -179921,12 +179922,12 @@ "terminal hepatic venule" "vena centralis (hepar)" "terminal branch of hepatic vein" + "MIDD" + "mitochondrial diabetes" "mitral valve atresia" "congenital mitral valve atresia" "congenital atresia of mitral valve" "mitral atresia" - "MIDD" - "mitochondrial diabetes" "SPG35" "catecholaminergic polymorphic ventricular tachycardia type 1" "ARVD2" @@ -180545,15 +180546,15 @@ "renal-hepatic-pancreatic dysplasia 1" "renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3" "renal-hepatic-pancreatic dysplasia type 1" + "meristematic tissue" + "meristem" + "Increased blood lactate" + "Increased serum lactate" "disorder of hypothalamus" "disease or disorder of hypothalamus" "hypothalamus disease" "disease of hypothalamus" "hypothalamus disease or disorder" - "meristematic tissue" - "meristem" - "Increased blood lactate" - "Increased serum lactate" "EBS-AR KRT14" "blood serum protein EOLA1 (human) amount" "blood serum cyclic nucleotide-gated cation channel beta-1 amount" @@ -180597,28 +180598,28 @@ "aneurysm of coronary vessels" "extracellular space of host" "interbranchial IV" + "BTI-TN-5B1-4" + "Tn 5B1-4" "blood serum EMI domain-containing protein 1 amount" "panniculus adiposus telae subcutaneae" "panniculus adiposus (tela subcutanea)" "subcutaneous fat layer" "fatty layer of subcutaneous tissue" "hypodermis fat layer" - "BTI-TN-5B1-4" - "Tn 5B1-4" + "nervus terminalis" "myopathy caused by mutation in FKRP" "FKRP-related myopathy" "FKRP myopathy" - "nervus terminalis" "fibroma" "fibroma, benign" "PSA measurement" "PSA levels" "prostate specific antigen levels" + "blood serum group IIC secretory phospholipase A2 amount" "Partial facial palsy with urinary abnormalities" "Inverted smile - neurogenic bladder" "Urofacial syndrome" "Hydronephrosis - inverted smile" - "blood serum group IIC secretory phospholipase A2 amount" "carcinoma of the extrahepatic bile duct" "extrahepatic bile duct cancer" "carcinoma of extrahepatic bile duct" @@ -180824,8 +180825,8 @@ "acute leukaemia (disease)" "stem cell leukemia (disease)" "acute leukemia (disease)" - 92.1 "leukemoid reaction" + 92.1 "AxD type II" "secretory otitis Media" "Otitis media with effusion" @@ -181117,10 +181118,10 @@ "Venous ectasia" "blood serum mitochondrial import inner membrane translocase subunit Tim13 amount" "SM 18:1" + "GM17105 cell" "Herva disease" "Multiple contracture syndrome, Finnish type" "LCCS1" - "GM17105 cell" "matrix metalloproteinase (MMP)-degraded type I collagen (C1M) measurement" "MMP-mediated type I collagen degradation measurement" "type I collagen metabolite measurement" @@ -181240,6 +181241,7 @@ "blood serum leucine-rich single-pass membrane protein 1 amount" "macular dystrophy, retinal, type 2" "MCDR2" + "benign brain tumor" "benign tumor of brain" "benign brain neoplasm" "benign tumour of brain" @@ -181250,7 +181252,6 @@ "brain benign neoplasm" "benign tumour of the brain" "benign neoplasm of brain" - "benign brain tumor" "Aortic arch hypoplasia" "Underdeveloped aortic arch" "Asian unspecified" @@ -181540,9 +181541,9 @@ "RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions" "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B" "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5" + "blood serum actin filament-associated protein 1-like 2 amount" "bluefin tuna" "northern bluefin tuna" - "blood serum actin filament-associated protein 1-like 2 amount" "blood serum glypican-1 amount" "AG11726 cell" "BPNST" @@ -181550,9 +181551,9 @@ "blood serum neuron-specific vesicular protein calcyon amount" "bile duct intrahepatic part" "10X 3' v3" - "blood serum origin recognition complex subunit 6 amount" "embryo Ce" "Caenorhabditis elegans embryo stage" + "blood serum origin recognition complex subunit 6 amount" "blood serum interleukin-1 receptor-like 1 amount" "fibroepithelial tumour" "fibroepithelial tumor" @@ -181641,11 +181642,11 @@ "BSCL" "generalised congenital lipodystrophy" "GM15242 cell" + "response to ICI" "blood serum Fc receptor-like B amount" "XFE progeroid syndrome" "XPF-ERCC1 progeroid syndrome" "XFEPS" - "response to ICI" "PKDYS1" "Parkinsonism-dystonia, infantile, 1" "classic DTDS" @@ -181930,11 +181931,11 @@ "malignant skeletal muscle tumor" "Coronary Stenosis" "Coronary artery stenosis (disorder)" + "BCL11B-related BAFopathy" + "intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities" "blood platelet aggregation" "intracellular region of host" "host intracellular" - "BCL11B-related BAFopathy" - "intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities" "nasal cavity and paranasal sinus carcinoma" "nasal cavity and paranasal sinus cancer" "sinonasal carcinoma" @@ -182231,7 +182232,6 @@ "fracture of neck of femur" "spermatogenic failure 66" "SPGF66" - "diffuse lipomatosis" "glutaric acidemia type 2" "Glutaric Aciduria Type II" "glutaric aciduria, type 2" @@ -182255,6 +182255,7 @@ "vaginal yolk Sac neoplasm" "vaginal endodermal sinus tumour" "vaginal yolk Sac tumour" + "diffuse lipomatosis" "blood serum forkhead box protein L2 amount" "blood Clots" "clot, blood" @@ -182362,8 +182363,8 @@ "hemoglobin A1 levels" "HbA1 levels" "inflammation of vein" - "phlebitis" "vein inflammation" + "phlebitis" "Small for gestational age" "Low birth weight" "Birth weight less than 10th percentile" @@ -183226,12 +183227,12 @@ "Cl measurement" "chloride levels" "Oerter-Friedman-Anderson syndrome" - "CHM-hypopituitarism syndrome" "vertebra disease" "disease or disorder of vertebra" "disorder of vertebra" "disease of vertebra" "vertebra disease or disorder" + "CHM-hypopituitarism syndrome" "hypoplasminogenemia" "plasminogen deficiency, type 1" "plasminogen deficiency type 1" @@ -183296,10 +183297,10 @@ "carbonyl dichloride" "portion of blood plasma" "blood plasm" + "TAG 50:3" "typhasterol" "(3alpha,5alpha,22R,23R,24S)-3,22,23-trihydroxyergostan-6-one" "SM 22:1" - "TAG 50:3" "GM17107 cell" "uterine smooth muscle" "Human Herpes Virus 8 Infection" @@ -183471,8 +183472,8 @@ "hyper-IgE recurrent infection syndrome 5, autosomal recessive" "HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE" "Tuberculosis, Hepatic" - "tuberculosis of liver" "hepatic tuberculosis" + "tuberculosis of liver" "Tuberculosis of liver (disorder)" "Hydrophthalmos" "Arabian cotton" @@ -183568,6 +183569,7 @@ "duct of salivary gland carcinoma" "high grade salivary duct carcinoma" "carcinoma of duct of salivary gland" + "snRNA-seq" "autosomal recessive spinocerebellar ataxia type 12" "SCAR12" "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX" @@ -183589,7 +183591,6 @@ "Implantation, Heart Valve Prosthesis" "Heart Valve Prostheses" "Valve Prostheses, Cardiac" - "snRNA-seq" "Charcot-Marie-Tooth neuropathy type 4A" "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A" "Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1" @@ -183713,6 +183714,7 @@ "Recessive congenital methemoglobinemia type 2" "NADH-cytochrome b5reductase deficiency type 2" "NADH-diaphorase deficiency type 2" + "symptomatic parkinsonism" "Parkinson Disease, Secondary" "secondary parkinsonism (disorder) [Ambiguous]" "disorder presenting primarily with parkinsonism" @@ -183723,7 +183725,6 @@ "secondary parkinsonism, unspecified" "secondary parkinsonism (disorder)" "Symptomatic parkinsonism (disorder)" - "symptomatic parkinsonism" "Xanthomonas oryzae pv. oryzae strain KACC10331" "Xanthomonas oryzae pv. oryzae str. KACC10331" "partial trisomy of chromosome 10" @@ -183902,8 +183903,6 @@ "blood serum GTP cyclohydrolase 1 amount" "cone dystrophy" "blood serum mediator of RNA polymerase II transcription subunit 28 amount" - "greasy grouper" - "Epinephelus tauvina (Forsskal, 1775)" "lipoid histiocytosis (kerasin type)" "Gaucher syndrome" "Gaucher's disease" @@ -183915,6 +183914,8 @@ "glucocerebrosidase deficiency" "glocucerebrosidase deficiency" "glucosylceramide beta-glucosidase deficiency" + "greasy grouper" + "Epinephelus tauvina (Forsskal, 1775)" "(9Z)-tetradec-9-enoate" "Mosaic trisomy type 20" "Mosaic trisomy chromosome 20" @@ -184147,6 +184148,7 @@ "gastric NET G1/2" "gastric well differentiated endocrine tumor/carcinoma" "gastric well differentiated endocrine tumour" + "Autosomal recessive intermediate osteopetrosis" "cerebral gigantism syndrome" "Sotos syndrome type 1" "cerebral gigantism" @@ -184156,13 +184158,12 @@ "chromosome 5q35 deletion syndrome" "Sotos' syndrome" "Sotos syndrome caused by mutation in NSD1" - "Autosomal recessive intermediate osteopetrosis" - "CAL-85-1" "cavernous angioma" "cavernoma" "cavernous hemangioma" "cavernous hemangioma (morphologic abnormality)" "cavernous haemangioma" + "CAL-85-1" "Rate Of Respiration, Increased" "Fast Breathing" "Respiratory Rate, Increased" @@ -184498,6 +184499,9 @@ "self-improving congenital ichthyosis" "SICI" "MPO-DNA complex" + "PBD-ZSS" + "PBD-ZSD" + "PBD-Zellweger spectrum disorder" "Bed nucleus of stria terminalis" "Nucleus of stria terminalis" "Nuclei of stria terminalis" @@ -184506,9 +184510,6 @@ "hereditary sensory and autonomic neuropathy type I" "Hereditary Sensory Neuropathy Type I" "HSAN1" - "PBD-ZSS" - "PBD-ZSD" - "PBD-Zellweger spectrum disorder" "iatrogenic Kaposi sarcoma" "iatrogenic Kaposi's sarcoma" "partial monosomy of the long arm of chromosome 2" @@ -184742,15 +184743,15 @@ "Vein Thromboses, Deep" "Deep Venous Thromboses" "Deep-Venous Thrombosis" - "Thrombosis, Deep Venous" "Thrombosis, Deep Vein" + "Thrombosis, Deep Venous" "Deep-Venous Thromboses" "Thromboses, Deep Vein" "Venous Thromboses, Deep" "Deep-Vein Thrombosis" "Venous Thrombosis, Deep" - "DVT" "Thrombosis, Deep-Venous" + "DVT" "Vein Thrombosis, Deep" "Thromboses, Deep-Vein" "blood serum atypical kinase COQ8B, mitochondrial amount" @@ -185158,6 +185159,11 @@ "CoQ10 deficiency" "coenzyme Q10 deficiency disease" "coenzyme Q10 deficiency, primary" + "cancer of anal canal" + "anal canal cancer" + "malignant anal canal neoplasm" + "malignant neoplasm of anal canal" + "mandibulofacial dysostosis with mental deficiency" "causalgia" "Complex regional pain syndrome, type II" "Causalgia (disorder)" @@ -185167,11 +185173,6 @@ "CRPS II" "Complex regional pain syndrome II" "complex regional pain syndrome type 2" - "cancer of anal canal" - "anal canal cancer" - "malignant anal canal neoplasm" - "malignant neoplasm of anal canal" - "mandibulofacial dysostosis with mental deficiency" "rhabdomyosarcoma (disease) of ovary" "ovary rhabdomyosarcoma (disease)" "rhabdomyosarcoma of the ovary" @@ -185294,8 +185295,8 @@ "allergic disease from wheat based food product" "Aspergillus fennelliae" "Populus yunnanensis Dode" - "glottis carcinoma" "glottic carcinoma" + "glottis carcinoma" "carcinoma of glottis" "carcinoma of the glottis" "left ventricular-to-right atrial communication" @@ -185402,8 +185403,8 @@ "neoplasm of gastrointestinal system" "tumor of digestive system" "GI system neoplasm" - "Influenza A virus (A/Texas/36/91(H1N1))" "Kelly-Kirson-Wyatt syndrome" + "Influenza A virus (A/Texas/36/91(H1N1))" "diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome" "cutaneous hemangioma with muscle or bone atrophy" "congenital absence of hand" @@ -185819,17 +185820,17 @@ "partial monosomy of chromosome 3q" "partial deletion of the long arm of chromosome type 3" "partial deletion of chromosome 3q" + "mel501a" "endocrine tuberculosis" "Tuberculosis, Endocrine" - "mel501a" "level of PC(14:0_18:1) in blood serum" "blood serum PC(14:0_18:1) amount" "parietal epithelial layer" "Bowman's parietal epithelium" "renal glomerular capsule epithelium" "parietal layer of glomerular capsule" - "outer layer of glomerular capsule" "parietal capsular epithelium" + "outer layer of glomerular capsule" "glomerular capsule parietal layer" "parietal epithelium of Bowman's capsule" "parietal layer of Bowman capsule" @@ -186136,8 +186137,8 @@ "nipple tumour" "nipple tumor" "neoplasm of nipple" - "tumour of nipple" "nipple neoplasm" + "tumour of nipple" "tumor of the nipple" "tumour of the nipple" "neoplasm of the nipple" @@ -186509,8 +186510,8 @@ "cardiac anomalies - developmental delay - facial dysmorphism syndrome" "mental retardation and distinctive Facial features with or without Cardiac defects" "blood serum Phosphatidylcholine (18:0_20:3) amount" - "blood serum Tax1-binding protein 1 amount" "CMT due to MARS mutation" + "blood serum Tax1-binding protein 1 amount" "1H-imidazol-3-ium" "CAHMR syndrome" "blood serum Arf-GAP domain and FG repeat-containing protein 1 amount" @@ -186532,12 +186533,12 @@ "ethmoid" "neonatal Canavan disease" "infantile Canavan disease" + "blood serum oxysterol-binding protein-related protein 9 amount" + "threonine" "oral epithelial dysplasia" "oral cavity dysplasia" "premalignant oral lesion" "premalignant oral lesions" - "blood serum oxysterol-binding protein-related protein 9 amount" - "threonine" "tooth agenesis, selective, type 4" "WNT10A tooth agenesis" "tooth agenesis, selective, 4" @@ -186684,12 +186685,12 @@ "cervical keratinizing squamous cell carcinoma" "tumour of trachea" "tumor of trachea" - "neoplasm of the trachea" "trachea neoplasm" + "neoplasm of the trachea" "tumour of the trachea" "tracheal neoplasm" - "tracheal tumor" "trachea tumor" + "tracheal tumor" "trachea tumour" "neoplasm of trachea" "tumor of the trachea" @@ -187225,12 +187226,6 @@ "cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome" "multiple keratoacanthoma, Muir-Torre type" "Muir-Torre syndrome" - "mercurialism" - "Mercury Poisoning, Nervous System" - "mercury poisoning" - "hydrargyria" - "Mercury intoxication" - "nervous system mercury poisoning" "meningioma, benign, no ICD-O subtype (morphologic abnormality)" "meningioma NOS" "meningioma NOS (morphologic abnormality)" @@ -187250,6 +187245,12 @@ "malignant tumor of prostate" "malignant tumour of the prostate" "NGP - new growth of prostate" + "mercurialism" + "Mercury Poisoning, Nervous System" + "mercury poisoning" + "hydrargyria" + "Mercury intoxication" + "nervous system mercury poisoning" "Kopysc-Barczyk-Krol syndrome" "Euhidrotic ectodermal dysplasia" "secreted_protein_identification_design" @@ -187495,16 +187496,16 @@ "congenital secretory chloride diarrhoea type 1" "SLC26A3 secretory diarrhoea" "Slurred speech" - "17-ketosteroidreductase deficiency" - "17-beta-hydroxysteroid dehydrogenase 3 deficiency" - "17-ketoreductase deficiency" - "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" "Heterotopias" "Grey matter heterotopias" "Gray matter heterotopias" "Heterotopia" "Neuronal heterotopia" "Grey matter heterotopia" + "17-ketosteroidreductase deficiency" + "17-beta-hydroxysteroid dehydrogenase 3 deficiency" + "17-ketoreductase deficiency" + "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" "Anhydrosis" "Sweating dysfunction" "Sudomotor dysfunction" @@ -187554,8 +187555,8 @@ "Neurolipocytoma" "Neurocytoma" "Harder, denser, fracture-prone bones" - "Isolated Noncompaction of the Ventricular Myocardium" "Familial doughnut lesions of skull" + "Isolated Noncompaction of the Ventricular Myocardium" "blood serum protein-tyrosine sulfotransferase 2 amount" "complex neurodevelopmental disorder" "proximal part of limb" @@ -187758,19 +187759,19 @@ "bronchospasm" "disorder of bronchus" "bronchus disease" - "hand dermatosis" "blood serum beta-1,4-galactosyltransferase 2 amount" + "hand dermatosis" "blood serum glutamate--cysteine ligase regulatory subunit amount" "Gliocladium flavofuscum" "Trichoderma flavofuscum" "Trichoderma virens" "Gliocladium virens" "blood serum gem-associated protein 7 amount" - "Anomalie syndromique du développement des yeux" "Methanobrevibacter smithii PS" "Methanobrevibacter smithii strain ATCC 35061" "Methanobrevibacter smithii DSM 861" "Methanobrevibacter smithii str. ATCC 35061" + "Anomalie syndromique du développement des yeux" "isovaleric aciduria" "isovaleric acidemia" "Isovalericacidemia" @@ -188005,6 +188006,14 @@ "PSEN1 familial acne inversa" "Low fibrinogen activity" "Low fibrinogen level" + "peritoneum neoplasm" + "tumour of peritoneum" + "peritoneal neoplasm" + "tumor of peritoneum" + "peritoneum neoplasm (disease)" + "peritoneum tumour" + "neoplasm of peritoneum" + "peritoneum tumor" "arylsulfatase B deficiency" "deficiency of N-acetylgalactosamine-4-sulfatase" "Maroteaux-Lamy syndrome" @@ -188019,14 +188028,6 @@ "ARSB deficiency" "N-acetylgalactosamine 4-sulfatase deficiency" "Maroteaux - Lamy syndrome" - "peritoneum neoplasm" - "tumour of peritoneum" - "peritoneal neoplasm" - "tumor of peritoneum" - "peritoneum neoplasm (disease)" - "peritoneum tumour" - "neoplasm of peritoneum" - "peritoneum tumor" "Mucopolysaccharidosis type IIIB" "N-acetyl-alpha-glucosaminidase deficiency" "Mucopolysaccharidosis type 3B" @@ -188084,11 +188085,10 @@ "exercise-induced delayed-onset myotonia" "GM17733 cell" "blood serum exosome complex component RRP40 amount" - "Mirror foot, bilateral" - "Mesoaxial polydactyly of toes, bilateral" "Cryptomicrotia-brachydactyly syndrome" "Tonoki-Ohura-Niikawa syndrome" - "inhibitory control measurement" + "Mirror foot, bilateral" + "Mesoaxial polydactyly of toes, bilateral" "soft tissue tumor of the mediastinum" "soft tissue neoplasm of the mediastinum" "mediastinal soft tissue neoplasm" @@ -188098,6 +188098,7 @@ "mediastinal soft tissue tumour" "soft tissue tumour of the mediastinum" "soft tissue tumor of mediastinum" + "inhibitory control measurement" "prospective neuroectoderm" "prospective vegetal ectoderm" "MIP1D measurement" @@ -188286,9 +188287,9 @@ "epithelioid cell melanoma of optic choroid" "age essential hypertension symptoms begin" "age at onset of essential hypertension" - "blood serum chromodomain-helicase-DNA-binding protein 1-like amount" "rosette" "leaf whorl" + "blood serum chromodomain-helicase-DNA-binding protein 1-like amount" "blood serum neural cell adhesion molecule 1 amount" "Fungi disease or disorder" "mycosis" @@ -188467,6 +188468,7 @@ "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK" "POMK muscular dystrophy-dystroglycanopathy, type A" "blood serum PR domain zinc finger protein 4 amount" + "TAG 52:2" "dicrocoeliasis" "Dicrocoelium infectious disease" "disease due to Dicrocoeliidae (disorder)" @@ -188475,7 +188477,6 @@ "Dicrocoelium disease or disorder" "Dicrocoeliasis" "disease due to Dicrocoeliidae" - "TAG 52:2" "Optic Nerve Head" "Optic Disk" "Optic Papilla" @@ -188493,9 +188494,10 @@ "corpora allata" "corpus allatum primordium" "(2S)-2-acetamidobutanedioate" - "T-B+ SCID due to CD45 deficiency" "Rabson-Mendenhall syndrome" + "T-B+ SCID due to CD45 deficiency" "Monteggia's fracture of ulna" + "dental pain" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" "immunodeficiency 27B, mycobacteriosis, AD" "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" @@ -188509,7 +188511,6 @@ "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" "blood serum protocadherin gamma-A12 amount" "AML, t(11;15)(p15;q35)" - "dental pain" "hereditary spastic paraplegia type 48" "SPG48" "hereditary spastic paraplegia caused by mutation in AP5Z1" @@ -188574,8 +188575,8 @@ "severe factor IX deficiency" "severe haemophilia type B" "severe hemophilia type B" - "blood serum integrator complex subunit 3 amount" "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features" + "blood serum integrator complex subunit 3 amount" "tumour of the autonomic nervous system" "autonomic nervous system tumor" "tumour of autonomic nervous system" @@ -189350,9 +189351,9 @@ "extraocular musculature" "extraocular skeletal muscle" "extrinsic eye muscle" - "neuroendocrine system disease" "Glycoprotein" "glycoproteins" + "neuroendocrine system disease" "crystal arthropathy" "inborn error of lipid storage" "inborn lipid storage disorder" @@ -189707,15 +189708,15 @@ "pigtail monkey" "pigtail macaque" "pig-tailed macaque" - "urinary obstruction" - "urinary tract obstruction" - "obstructive uropathy" "HT-EDS" "Ehlers-Danlos syndrome, hypermobile type" "BJHS" "Ehlers-Danlos syndrome type 3" "Benign joint hypermobility syndrome" "EDS III" + "urinary obstruction" + "urinary tract obstruction" + "obstructive uropathy" "HJMD" "Hypotrichosis with juvenile macular dystrophy" "scleredema" @@ -190089,10 +190090,10 @@ "epidemic hemorrhagic fever virus" "Seoul hantavirus" "blood serum beta-1,4-galactosyltransferase 5 amount" + "biliary tree inflammation" "biliary tract infection" "cholangitis" "inflammation of biliary tree" - "biliary tree inflammation" "Aagenaes syndrome" "cholestasis-edema syndrome, Norwegian type" "blood serum glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 amount" @@ -190113,9 +190114,9 @@ "HCT-FET" "HCT FET" "GM17817 cell" - "2,6,10,14-tetramethylpentadecane" "1,25(OH)2-D3" "1,25-dihydroxycholecalciferol" + "2,6,10,14-tetramethylpentadecane" "Le Merrer syndrome" "Yakut short stature syndrome" "Gloomy face syndrome" @@ -190372,10 +190373,10 @@ "Stomatitis-Pneumoenteritis Syndrome" "Pseudorinderpest" "blood serum V-set and immunoglobulin domain-containing protein 2 amount" + "familial parathyroids hyperplasia" "blood serum exosome complex component RRP43 amount" "Pee issues" "Urine issues" - "familial parathyroids hyperplasia" "F1 medium" "inflammation of endometrium" "uterine infection" @@ -190530,11 +190531,11 @@ "diabetes mellitus, insulin-dependent, type 20" "IDDM20" "hyperthyroxinemia" - "4-acetamidophenyl hydrogen sulfate" "large bowel tubulovillous adenoma" "colorectal tubulovillous adenoma" "tubulovillous adenoma of the large bowel" "tubulovillous adenoma of large bowel" + "4-acetamidophenyl hydrogen sulfate" "blood serum zinc finger protein with KRAB and SCAN domains 7 amount" "anaplastic large cell lymphoma of the central nervous system" "anaplastic central nervous system large cell lymphoma" @@ -190545,7 +190546,6 @@ "central nervous system anaplastic large cell lymphoma" "anaplastic CNS large cell lymphoma" "primary CNS anaplastic large cell lymphoma" - "blood serum Phosphatidylcholine (O-18:2_20:4) amount" "otitis media with effusion - purulent" "Suppurative otitis media &/or ([left] or [right]) &/or purulent otitis media" "Suppurative otitis media" @@ -190560,6 +190560,7 @@ "Suppurative otitis med." "Otitis Media, Suppurative" "Unspecified suppurative otitis media" + "blood serum Phosphatidylcholine (O-18:2_20:4) amount" "blood serum transcriptional enhancer factor TEF-3 amount" "blood serum urotensin-2B amount" "GM17795 cell" @@ -190648,8 +190649,8 @@ "dyskeratosis congenita, autosomal dominant 2" "DKCA2" "dyskeratosis congenita, autosomal dominant type 2" - "BNP:NT-proBNP ratio" "teratoma, malignant" + "BNP:NT-proBNP ratio" "Geobacter sulfurreducens strain PCA" "Geobacter sulfurreducens str. PCA" "Non-phenylketonuric hyperphenylalaninemia" @@ -191441,13 +191442,13 @@ "blood serum ADP-ribosylation factor-binding protein GGA3 amount" "blood serum TBC1 domain family member 22B amount" "HHML" - "GM17738 cell" - "autosomal recessive intellectual disability due to TRAPPC9 deficiency" - "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" "Syphilis, Cardiovascular" "syphilitic aortitis" "Syphilitic aortitis (disorder)" "Syphilitic aortitis" + "GM17738 cell" + "autosomal recessive intellectual disability due to TRAPPC9 deficiency" + "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" "primary cutaneous diffuse large B-cell lymphoma, Leg type" "PCDLBCL,LT" "genetic peripheral neuropathy" @@ -191506,7 +191507,6 @@ "Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome" "MMIHS" "Berdon syndrome" - "Boylan-Dew syndrome" "X-linked MSMD" "mendelian susceptibility to mycobacterial diseases, X-linked" "Gestational herpes" @@ -191518,6 +191518,7 @@ "gestational pemphigoid" "Herpes gestationis" "Herpes gestationis NOS (disorder)" + "Boylan-Dew syndrome" "craniosynostosis syndrome, autosomal recessive" "autosomal recessive craniosynostosis" "craniosynostosis, autosomal recessive" @@ -191851,11 +191852,6 @@ "adrenal cortical incidentaloma" "adrenal cortex non-functioning endocrine neoplasm" "non-functioning adrenal cortex adenoma" - "therapy-related acute myeloid leukemia and myelodysplastic syndrome" - "acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related" - "therapy-related acute myeloid leukaemia and myelodysplastic syndrome" - "therapy-related AML and MDS" - "therapy-related myeloid neoplasm" "Gastrula:Shield" "BRRS" "Bannayan syndrome" @@ -191866,6 +191862,11 @@ "macrocephaly with multiple lipomas and hemangiomas" "Ruvalcaba-MYHRE-SMITH syndrome" "PON1 measurement" + "therapy-related acute myeloid leukemia and myelodysplastic syndrome" + "acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related" + "therapy-related acute myeloid leukaemia and myelodysplastic syndrome" + "therapy-related AML and MDS" + "therapy-related myeloid neoplasm" "Fanconi anemia complementation group type C" "FA3" "FANCC" @@ -191954,9 +191955,9 @@ "HLHS" "Familial epilepsy and mental retardation limited to females" "EFMR" + "blood serum E3 ubiquitin-protein ligase pellino homolog 2 amount" "perineal region" "regio perinealis" - "blood serum E3 ubiquitin-protein ligase pellino homolog 2 amount" "sequential fluorescence in situ hybridization" "malignant biphasic mesothelioma, malignant" "biphasic mesothelioma" @@ -192251,8 +192252,8 @@ "anal Paget disease" "CancerSite" "Lactobacillus alimentarius (ex Reuter 1970) Reuter 1983" - "bronchiole epithelium" "bronchiolar epithelium" + "bronchiole epithelium" "bronchiole epithelial tissue" "epithelial tissue of bronchiole" "nonsyndromic intestinal malformation" @@ -192365,11 +192366,11 @@ "atelosteogenesis type II" "AOII" "atelosteogenesis type 2" - "Spontaneous fracture" "X-linked spinal muscular atrophy type 2" "Spinal muscular atrophy with arthrogryposis" "SMAX2" "X-linked infantile spinal muscular atrophy" + "Spontaneous fracture" "retroperitoneal space sarcoma" "sarcoma of retroperitoneal space" "retroperitoneal sarcoma" @@ -192445,10 +192446,10 @@ "aortic aneurysm, familial thoracic type 7" "Hypoplastic distal ulna" "Distal shortening of ulna" - "Irons-Bianchi syndrome" - "Irons-Bhan syndrome" "neuronopathy, distal hereditary motor caused by mutation in HSPB8" "HSPB8 neuronopathy, distal hereditary motor" + "Irons-Bianchi syndrome" + "Irons-Bhan syndrome" "L-2-hydroxyglutaric acidemia" "L-2-HGA" "Danon disease" @@ -192475,8 +192476,8 @@ "well-differentiated follicular adenocarcinoma" "follicular thyroid gland carcinoma" "follicular adenocarcinoma, well differentiated (morphologic abnormality)" - "carcinoma, follicular cell, malignant" "carcinoma of thyroid follicle" + "carcinoma, follicular cell, malignant" "follicular cancer of the thyroid" "follicular adenocarcinoma (morphologic abnormality)" "follicular adenocarcinoma" @@ -192726,8 +192727,8 @@ "phagocyte bactericidal dysfunction" "phagocytic dysfunction" "Phagocyte Bactericidal Dysfunction" - "blood serum calcipressin-3 amount" "Trichotillomania" + "blood serum calcipressin-3 amount" "bifid femur-monodactylous ectrodactyly syndrome" "Gollop-Wolfgang complex" "blood serum lysophospholipase D GDPD1 amount" @@ -192936,8 +192937,8 @@ "tumour of the optic nerve" "neoplasm of cranial nerve II" "neoplasms, optic nerve" - "neoplasm of optic nerve (disorder)" "optic nerve tumor" + "neoplasm of optic nerve (disorder)" "cranial nerve II neoplasm (disease)" "neoplasm of the second cranial nerve" "tumor of Second Cranial nerve" diff --git a/src/ontology/reports/xrefs.tsv b/src/ontology/reports/xrefs.tsv index da27cc70..bd1e5b98 100644 --- a/src/ontology/reports/xrefs.tsv +++ b/src/ontology/reports/xrefs.tsv @@ -123,12 +123,12 @@ "UMLS:C1832588" "OMIM:601224" "MeSH:C538356" - "UMLS:C0740394" - "SNOMEDCT_US:35885006" "DOID:0070415" "OMIM:617412" "UMLS:C4479431" "MEDGEN:1374289" + "UMLS:C0740394" + "SNOMEDCT_US:35885006" "MEDGEN:14336" "SCTID:118940003" "ICD10CM:G00-G99" @@ -361,7 +361,6 @@ "PMID:28240269" "PMID:28240269" "ICD10:Q43.1" - "PMID:29875488" "UMLS:C0266579" "MedDRA:10014923" "MEDGEN:540011" @@ -381,6 +380,7 @@ "MESH:D005356" "UMLS:C0016053" "ICD10CM:M79.7" + "PMID:29875488" "MedDRA:10062759" "OMIMPS:127550" "NCIT:C111802" @@ -2048,9 +2048,9 @@ "SCTID:733115009" "GARD:12405" "PMID:32641083" + "PMID:24816252" "SNOMEDCT:370135005" "SNOMEDCT:308489006" - "PMID:24816252" "UMLS:C0796430" "DOID:3542" "MEDGEN:163268" @@ -2303,10 +2303,10 @@ "Orphanet:2879" "MESH:C535612" "OMIM:276820" - "PMID:28369058" - "OMIM:308100" "SNOMEDCT:38311000" "MeSH:D046913" + "PMID:28369058" + "OMIM:308100" "ZFA:0000255" "PMID:30134952" "SCTID:128239009" @@ -2490,8 +2490,6 @@ "BTO:0002588" "CLO:0008082" "PMID:20671299" - "OMIM:608545" - "ICD10:Q74.8" "DOID:5062" "ICD9:305.90" "UMLS:C0031391" @@ -2507,6 +2505,8 @@ "UMLS:C0085762" "ICD9:305.00" "MESH:D000437" + "OMIM:608545" + "ICD10:Q74.8" "ICD10CM:Q56" "UMLS:C1290455" "SCTID:268229003" @@ -2893,8 +2893,8 @@ "NCIT:C35126" "MEDGEN:12103" "MESH:D014786" - "SCTID:95677002" "UMLS:C0042790" + "SCTID:95677002" "MedDRA:10047518" "GARD:10823" "Orphanet:71526" @@ -2951,7 +2951,6 @@ "Reactome:R-HSA-499981" "PMID:29875488" "PMID:28240269" - "RRID:CVCL_1819" "DOID:0111668" "MEDGEN:98036" "Orphanet:1946" @@ -2960,6 +2959,7 @@ "UMLS:C0406740" "GARD:3128" "SCTID:109478007" + "RRID:CVCL_1819" "UMLS:C5551484" "OMIM:215150" "MEDGEN:1790497" @@ -3015,11 +3015,6 @@ "MEDGEN:930909" "Orphanet:261144" "UMLS:C4305240" - "MeSH:D047688" - "ICD10:N63" - "DOID:10350" - "NCIt:C5315" - "MedDRA:10006220" "UMLS:C1853919" "MEDGEN:343009" "Orphanet:168632" @@ -3027,6 +3022,11 @@ "GARD:17042" "MESH:C565284" "SCTID:766928004" + "MeSH:D047688" + "ICD10:N63" + "DOID:10350" + "NCIt:C5315" + "MedDRA:10006220" "PMID:28240269" "MedDRA:10062941" "UMLS:C0342773" @@ -3271,9 +3271,6 @@ "OMIM:618841" "OMIM:615270" "OMIM:614838" - "ICD10:E77.1" - "OMIM:256550" - "OMIM:256150" "ICD9:277.6" "UMLS:C0878682" "MEDGEN:168057" @@ -3286,6 +3283,9 @@ "DOID:0050711" "NANDO:1200540" "PMID:29545511" + "ICD10:E77.1" + "OMIM:256550" + "OMIM:256150" "MEDGEN:9822" "OMIM:610448" "GARD:18493" @@ -3351,8 +3351,6 @@ "NANDO:1201034" "UMLS:C0574080" "Orphanet:382" - "NCIt:C20875" - "ICD10:Z47" "DOID:3448" "NCIT:C27817" "Orphanet:398053" @@ -3369,6 +3367,8 @@ "EFO:0002471" "FMA:271593" "ZFA:0001312" + "NCIt:C20875" + "ICD10:Z47" "SCTID:763669001" "MESH:C566247" "Orphanet:1182" @@ -3746,6 +3746,7 @@ "DOID:0050882" "SNOMEDCT:1161001" "PMID:24816252" + "PMID:28240269" "galen:ProstateGland" "UMLS:C0033572" "CALOHA:TS-0828" @@ -3763,7 +3764,6 @@ "EV:0100104" "VHOG:0001261" "EMAPA:19287" - "PMID:28240269" "MEDGEN:1648439" "DOID:0111403" "OMIM:618273" @@ -4041,7 +4041,6 @@ "EFO:1001942" "UMLS:C0007121" "MESH:D002283" - "PMID:35347128" "CAS:58-08-2" "PMID:9218278" "PMID:11209966" @@ -4127,7 +4126,9 @@ "PMID:8332255" "PMID:10510174" "HMDB:HMDB0001847" + "PMID:35347128" "ZFS:0000038" + "NCIt:C74949" "MESH:D020391" "NCIT:C84704" "NANDO:1200491" @@ -4142,7 +4143,6 @@ "OMIMPS:158900" "DOID:11727" "Orphanet:269" - "NCIt:C74949" "PMID:29875488" "DOID:4377" "MeSH:D021181" @@ -4212,8 +4212,8 @@ "PMID:27193062" "NCIT:C40130" "MEDGEN:274487" - "UMLS:C1517114" "DOID:5324" + "UMLS:C1517114" "GARD:2523" "MESH:C564214" "SCTID:716024001" @@ -4547,13 +4547,13 @@ "NCIT:C6633" "DOID:6868" "MEDGEN:235311" + "OMIM:204500" + "ICD10:E75.4" "UMLS:C5394548" "MEDGEN:1718769" "OMIM:618940" "GARD:16397" "DOID:0081298" - "OMIM:204500" - "ICD10:E75.4" "ICD10:Q87.8" "EC:4.2.1.93" "RHEA:19017" @@ -4701,6 +4701,7 @@ "PDBeChem:CSU" "PMID:23430915" "PMID:37164013" + "PMID:28878392" "DOID:12721" "icd11.foundation:2009123831" "NORD:1468" @@ -4715,7 +4716,6 @@ "MEDGEN:6461" "ICD10CM:Q77.3" "JAX:004460" - "PMID:28878392" "MEDGEN:482413" "UMLS:C3280783" "OMIM:614431" @@ -4963,8 +4963,8 @@ "MEDGEN:816730" "OMIM:615744" "PMID:37253714" - "ICD10:Q93.5" "ICD10:E03.1" + "ICD10:Q93.5" "MedDRA:10014688" "SNOMEDCT:56819008" "MONDO:0005025" @@ -5082,9 +5082,9 @@ "MESH:C563665" "Orphanet:91130" "GARD:16795" - "PMID:26068415" "SNOMEDCT_US:95500008" "UMLS:C0344541" + "PMID:26068415" "ICD10:Q87.8" "OMIM:231080" "UMLS:C4020778" @@ -5103,8 +5103,8 @@ "MEDGEN:2735" "UMLS:C0006264" "HP:0030077" - "NANDO:2200081" "MedDRA:10052245" + "NANDO:2200081" "MeSH:D001984" "SCTID:126705004" "MO:914" @@ -5209,8 +5209,8 @@ "MEDGEN:1647391" "Orphanet:59135" "OMIM:160500" - "PMID:29875488" "PMID:35347128" + "PMID:29875488" "MEDGEN:414541" "Orphanet:217023" "GARD:18556" @@ -5317,6 +5317,8 @@ "Orphanet:98638" "GARD:19524" "PMID:35347128" + "NCIt:C114130" + "ICD10:O73" "ICD9:621.8" "NCIT:C26907" "MEDGEN:22590" @@ -5325,15 +5327,13 @@ "MESH:D014591" "ICD9:621.9" "DOID:345" - "NCIt:C114130" - "ICD10:O73" + "OMIMPS:614372" "CLO:0009227" "RRID:CVCL_0594" "BTO:0005065" "CLO:0008172" "CLO:0050548" "BTO:0000944" - "OMIMPS:614372" "FBbt:00005541" "SNOMEDCT:360387000" "PMID:19609351" @@ -5661,7 +5661,6 @@ "BTO:0003723" "RRID:CVCL_1783" "PMID:29875488" - "MA:0001453" "FMA:11946" "NCIT:C32138" "EFO:0003618" @@ -5672,6 +5671,7 @@ "TAO:0001066" "UMLS:C0223076" "VHOG:0001670" + "MA:0001453" "DOID:7514" "MEDGEN:275635" "UMLS:C1520159" @@ -5749,6 +5749,7 @@ "UMLS:C0014866" "SNOMEDCT_US:63305008" "PMID:28240269" + "PMID:33634981" "GARD:3348" "UMLS:C0796094" "ICD9:525.8" @@ -5762,11 +5763,6 @@ "ONCOTREE:VPSCC" "MEDGEN:234477" "UMLS:C1336955" - "PMID:33634981" - "UMLS:C5681616" - "MEDGEN:1842708" - "Orphanet:93945" - "GARD:19239" "MESH:D014126" "SCTID:416481006" "MONDO:0005879" @@ -5776,6 +5772,10 @@ "MedDRA:10067246" "DOID:13343" "UMLS:C0040561" + "UMLS:C5681616" + "MEDGEN:1842708" + "Orphanet:93945" + "GARD:19239" "ICD9:727.49" "MEDGEN:578881" "DOID:9754" @@ -5799,12 +5799,12 @@ "UMLS:C0153998" "SCTID:92021007" "NCIT:C3608" + "PMID:34128465" "MEDGEN:1740270" "OMIM:618969" "UMLS:C5436501" "DOID:0112005" "PMID:36168886" - "PMID:34128465" "SCTID:237963003" "icd11.foundation:1462194012" "Orphanet:308467" @@ -5970,9 +5970,6 @@ "BTO:0002252" "NCIt:C12454" "MAT:0000348" - "OMIM:133000" - "ICD10:L59.8" - "PMID:24816252" "GAID:1285" "EFO:0001386" "SCTID:362082005" @@ -5982,6 +5979,8 @@ "Wikipedia:Palatine_uvula" "FMA:55022" "BTO:0002204" + "OMIM:133000" + "ICD10:L59.8" "UMLS:C4014803" "OMIM:615954" "MONDO:0014416" @@ -5989,6 +5988,7 @@ "UMLS:C5543064" "OMIM:619185" "GARD:16434" + "PMID:24816252" "NCIT:C6180" "MEDGEN:231045" "UMLS:C1332219" @@ -6054,11 +6054,11 @@ "NCIT:C5619" "MEDGEN:277574" "PMID:24816252" - "PMID:29875488" "UM-BBD_reactionID:r0209" "EC:1.8.3.4" "RHEA:11812" "MetaCyc:METHANETHIOL-OXIDASE-RXN" + "PMID:29875488" "PMID:24816252" "GARD:20994" "Orphanet:269215" @@ -6066,8 +6066,8 @@ "UMLS:C5680778" "Wikipedia:Putamen" "PMID:28927378" - "FBbt:00000441" "PMID:23823483" + "FBbt:00000441" "NCIt:C81183" "ZFA:0001299" "BTO:0001445" @@ -6089,11 +6089,11 @@ "NCIT:C5490" "Orphanet:423994" "NCIt:C7972" + "SNOMEDCT:28692007" "OMIM:613873" "UMLS:C3151264" "DOID:0110323" "MEDGEN:462614" - "SNOMEDCT:28692007" "MEDGEN:859716" "SCTID:721074002" "OMIM:615961" @@ -6798,7 +6798,6 @@ "Orphanet:279911" "GARD:21064" "NCIT:C7185" - "PMID:35347128" "UMLS:C0220697" "OMIMPS:174200" "MEDGEN:67394" @@ -6822,6 +6821,7 @@ "NANDO:2200628" "GARD:7514" "NCIt:C69148" + "PMID:35347128" "PMID:37253714" "UMLS:C4025652" "SNOMEDCT_US:197941005" @@ -7125,9 +7125,9 @@ "Reactome:R-HSA-174394" "Reactome:R-HSA-5602901" "UMLS:C1846442" + "PMID:29875488" "DOID:3449" "NCIt:C9061" - "PMID:29875488" "KEGG:C03912" "HMDB:HMDB0001301" "PMID:8301021" @@ -7268,7 +7268,6 @@ "ICD9:239.5" "SCTID:123844007" "MESH:D016889" - "PMID:36168886" "icd11.foundation:1144812971" "SCTID:397016004" "NCIT:C9235" @@ -7279,6 +7278,7 @@ "ONCOTREE:SM" "DOID:349" "MedDRA:10042949" + "PMID:36168886" "MEDGEN:98153" "NANDO:2200990" "UMLS:C0432306" @@ -7331,8 +7331,8 @@ "Wikipedia:Penis" "BTO:0000405" "GAID:389" - "CALOHA:TS-0758" "EV:0100107" + "CALOHA:TS-0758" "EHDAA2:0001433" "VHOG:0000727" "UMLS:C0030851" @@ -7347,18 +7347,18 @@ "galen:Penis" "FMA:9707" "SCTID:265793009" - "UMLS:C0342690" - "ICD10:E72.4" "NCIT:C3302" "DOID:3450" "MESH:D010145" + "UMLS:C0342690" + "ICD10:E72.4" + "ICD10:O72" + "MedDRA:10036418" + "NCIt:C92853" "MESH:D000782" "NCIT:C2873" "UMLS:C0002938" "MEDGEN:294" - "ICD10:O72" - "MedDRA:10036418" - "NCIt:C92853" "GARD:9287" "SCTID:725141006" "MESH:C535396" @@ -7398,12 +7398,12 @@ "birn_anat:birnlex_1204" "MA:0000952" "PMID:23823483" + "DOID:0050292" "MedDRA:10027789" "OMIM:157900" "NCIt:C84893" "MeSH:D020331" "DOID:13501" - "DOID:0050292" "OMIM:611755" "ICD10CM:H35.5" "MEDGEN:346672" @@ -7588,9 +7588,6 @@ "SCTID:609618002" "PMID:34128465" "PMID:28240269" - "NCIt:C41009" - "NCIT:C41009" - "MONDO:0021125" "BTO:0000671" "UMLS:C0022646" "MIAA:0000119" @@ -7599,9 +7596,12 @@ "MESH:D007668" "CALOHA:TS-0510" "Wikipedia:Kidney" - "MAT:0000119" "GAID:423" + "MAT:0000119" "AAO:0000250" + "NCIt:C41009" + "NCIT:C41009" + "MONDO:0021125" "PMID:35347128" "SNOMEDCT_US:22253000" "UMLS:C0030193" @@ -8028,7 +8028,6 @@ "UMLS:C4304745" "MEDGEN:930414" "NIF_Subcellular:sao1784069613" - "NCIt:C9163" "FMA:55070" "NCIT:C73468" "MA:0000752" @@ -8045,13 +8044,14 @@ "OMIM:188050" "SNOMEDCT_US:111293003" "OMIM:188055" - "Gmelin:464718" - "Beilstein:3651747" - "CAS:73-97-2" + "NCIt:C9163" "OMIM:139900" "MeSH:D007839" "MedDRA:10075305" "SNOMEDCT:57427004" + "Gmelin:464718" + "Beilstein:3651747" + "CAS:73-97-2" "ZFS:0000041" "PMID:28240269" "PMID:24816252" @@ -8246,13 +8246,13 @@ "UMLS:C0238104" "NCIT:C102820" "SCTID:63922003" - "PMID:29875488" "GARD:19612" "ICD10CM:H35.5" "Orphanet:99003" "SCTID:723408004" "MEDGEN:1376850" "UMLS:C4509881" + "PMID:29875488" "SCTID:402599005" "UMLS:C0000889" "ICD10:L83" @@ -8272,8 +8272,8 @@ "AAO:0010551" "XAO:0000164" "MESH:D000311" - "UMLS:C0001625" "MAT:0000071" + "UMLS:C0001625" "Wikipedia:Adrenal_gland" "EV:0100135" "BTO:0000047" @@ -8302,6 +8302,13 @@ "DOID:5375" "OMIM:216800" "ICD10:Q87.8" + "GARD:846" + "Orphanet:1237" + "UMLS:C1859526" + "SCTID:717859007" + "OMIM:209970" + "MESH:C537668" + "MEDGEN:347174" "ICD9:287.8" "ICD10:D68" "SCTID:64779008" @@ -8315,13 +8322,6 @@ "DOID:1247" "NCIt:C2902" "ICD9:286.9" - "GARD:846" - "Orphanet:1237" - "UMLS:C1859526" - "SCTID:717859007" - "OMIM:209970" - "MESH:C537668" - "MEDGEN:347174" "PMID:35347128" "UMLS:C1849140" "OMIM:270550" @@ -8489,6 +8489,11 @@ "PMID:19386619" "FMA:24901" "FMA:83517" + "UMLS:C0019202" + "ICD10:E83.0" + "MeSH:D006527" + "MedDRA:10019819" + "OMIM:277900" "ICD10:E77.8" "OMIM:608540" "PMID:29875488" @@ -8500,11 +8505,6 @@ "MEDGEN:462244" "SCTID:764440006" "Orphanet:357001" - "UMLS:C0019202" - "ICD10:E83.0" - "MeSH:D006527" - "MedDRA:10019819" - "OMIM:277900" "BTO:0005773" "CLO:0009988" "RRID:CVCL_2956" @@ -8920,12 +8920,6 @@ "UMLS:C0205851" "MONDO:0005040" "NCIT:C3708" - "DOID:5602" - "NCIT:C9142" - "MONDO:0003539" - "MEDGEN:79009" - "EFO:1001936" - "UMLS:C0279592" "UMLS:C0025289" "SNOMEDCT_US:7180009" "MAT:0000450" @@ -8936,6 +8930,12 @@ "SNOMEDCT_US:271607001" "UMLS:C0020555" "SNOMEDCT_US:29966009" + "DOID:5602" + "NCIT:C9142" + "MONDO:0003539" + "MEDGEN:79009" + "EFO:1001936" + "UMLS:C0279592" "UMLS:C0431375" "MEDGEN:98463" "NANDO:1201068" @@ -9528,8 +9528,8 @@ "MeSH:C536643" "ICD10:G11.4" "PMID:35347128" - "PMID:29875488" "PMID:35668104" + "PMID:29875488" "PMID:29875488" "MEDGEN:83352" "Orphanet:3315" @@ -9859,6 +9859,8 @@ "Orphanet:504523" "GARD:17938" "DOID:0111983" + "OMIM:309580" + "ICD10:Q87.0" "MESH:D007340" "DOID:3892" "MedDRA:10022498" @@ -9872,8 +9874,6 @@ "MBA:174" "EFO:0003478" "ZFA:0000059" - "OMIM:309580" - "ICD10:Q87.0" "PMID:28240269" "CAS:123-91-1" "KEGG:C14440" @@ -10283,11 +10283,11 @@ "OMIM:608203" "MEDGEN:374920" "MESH:C564275" - "PMID:33634981" "GARD:19241" "Orphanet:93947" "MEDGEN:1842639" "UMLS:C5681614" + "PMID:33634981" "MEDGEN:1383455" "GARD:21141" "Orphanet:289513" @@ -10662,8 +10662,8 @@ "OMIM:611907" "UMLS:C3814534" "ICDO:9187/3" - "UMLS:C1266163" "NCIT:C6474" + "UMLS:C1266163" "EFO:1000327" "MONDO:0006271" "MEDGEN:818980" @@ -11539,14 +11539,6 @@ "MEDGEN:6050" "MONDO:0005126" "SNOMEDCT:70143003" - "MeSH:D017243" - "ICD10:E88.42" - "DOID:310" - "ICD10:G71.3" - "NCIt:C84889" - "UMLS:C0162672" - "MedDRA:10069825" - "OMIM:545000" "MEDGEN:237042" "NCIT:C6336" "GARD:20473" @@ -11561,6 +11553,14 @@ "MeSH:D003286" "MedDRA:10061785" "SNOMEDCT:57048009" + "MeSH:D017243" + "ICD10:E88.42" + "DOID:310" + "ICD10:G71.3" + "NCIt:C84889" + "UMLS:C0162672" + "MedDRA:10069825" + "OMIM:545000" "DOID:6244" "UMLS:C0879606" "MEDGEN:209307" @@ -12227,8 +12227,8 @@ "UMLS:C0023078" "EHDAA2:0004063" "galen:Larynx" - "XAO:0003081" "AAO:0000268" + "XAO:0003081" "EV:0100039" "EMAPA:18333" "VHOG:0001279" @@ -12698,12 +12698,6 @@ "UMLS:C0270733" "MESH:D020955" "DOID:4751" - "Orphanet:435953" - "DOID:0111264" - "GARD:17722" - "UMLS:C4015461" - "MEDGEN:863898" - "OMIM:616200" "KEGG:C17690" "SNOMEDCT:57406009" "MEDGEN:2856" @@ -12724,6 +12718,12 @@ "MESH:D002349" "NCIt:C34450" "ICD10:S54" + "Orphanet:435953" + "DOID:0111264" + "GARD:17722" + "UMLS:C4015461" + "MEDGEN:863898" + "OMIM:616200" "CLO:0037142" "BTO:0002381" "RRID:CVCL_1416" @@ -12976,9 +12976,9 @@ "MP:0002411" "OMIM:181430" "UMLS:C0026848" - "OMIM:300695" "NCIt:C101216" "MedDRA:10028649" + "OMIM:300695" "MEDGEN:10135" "ICD9:728.3" "DOID:423" @@ -13548,8 +13548,8 @@ "SCTID:40055000" "ICD9:473.9" "UMLS:C0149516" - "MEDGEN:101751" "MONDO:0006031" + "MEDGEN:101751" "NCIT:C35151" "ICD9:473.8" "PMID:25838086" @@ -13606,6 +13606,10 @@ "GARD:10556" "ICDO:9727/3" "icd11.foundation:783045723" + "OMIM:619561" + "UMLS:C5561999" + "MEDGEN:1794209" + "DOID:0070383" "MEDGEN:64638" "ICD10:G71.9" "Orphanet:251576" @@ -13620,10 +13624,6 @@ "UMLS:C0206726" "MESH:D018316" "MedDRA:10018340" - "OMIM:619561" - "UMLS:C5561999" - "MEDGEN:1794209" - "DOID:0070383" "NCIt:C7218" "ICD10:C82" "UMLS:C5680277" @@ -13977,9 +13977,9 @@ "Gmelin:25753" "MetaCyc:BUTANOL" "DrugBank:DB02145" - "PMID:29875488" "birn_anat:nlx_anat_20090307" "FMA:77387" + "PMID:29875488" "PMID:23823483" "SCTID:307597000" "MEDGEN:87221" @@ -14205,8 +14205,8 @@ "neuronames:1566" "EMAPA:17612" "MESH:D019147" - "Wikipedia:Vomeronasal_organ" "EHDAA2:0002211" + "Wikipedia:Vomeronasal_organ" "AAO:0000997" "FMA:77280" "GAID:354" @@ -14237,8 +14237,8 @@ "Wikipedia:Ligament" "EFO:0001966" "MESH:D008022" - "galen:Ligament" "FMA:21496" + "galen:Ligament" "CALOHA:TS-2145" "XAO:0004031" "TAO:0001682" @@ -14297,6 +14297,7 @@ "UMLS:C3150127" "PMID:29875488" "PMID:29875488" + "PMID:36168886" "UMLS:C1291245" "Orphanet:168588" "MEDGEN:266223" @@ -14308,7 +14309,6 @@ "OMIMPS:604931" "Orphanet:247198" "GARD:17187" - "PMID:36168886" "PMID:32641083" "Orphanet:307061" "Orphanet:307064" @@ -14358,8 +14358,8 @@ "OMIM:601631" "ICD10:Q13.8" "MedDRA:10058653" - "HMDB:0029239" "ZFA:0005029" + "HMDB:0029239" "SNOMEDCT:76608007" "SCTID:67254002" "MEDGEN:52357" @@ -14629,6 +14629,8 @@ "ICD10:Q87.8" "UMLS:C1855904" "OMIM:239710" + "ICD10:G71.0" + "OMIM:603689" "OMIM:235255" "GARD:4157" "DOID:0110943" @@ -14636,20 +14638,18 @@ "MESH:C536059" "UMLS:C1850126" "MEDGEN:342420" - "ICD10:G71.0" - "OMIM:603689" "PMID:29875488" "UMLS:C3280282" "GARD:13686" "MEDGEN:481912" "DOID:0070038" "OMIM:614254" + "UMLS:C4054549" + "NCIt:C123171" "PMID:25262759" "http://flybase.org/reports/FBtc0000151.html" "FBtc:FBtc0000151" "PMID:21177962" - "UMLS:C4054549" - "NCIt:C123171" "ICD9:302.89" "ICD9:302.9" "SCTID:56627002" @@ -14814,18 +14814,6 @@ "OMIM:607152" "MeSH:C536856" "ICD10:G11.4" - "MEDGEN:41766" - "ICD9:253.8" - "SNOMEDCT:237722004" - "SCTID:237722004" - "NCIT:C84686" - "MESH:D004652" - "UMLS:C0014008" - "DOID:3642" - "MONDO:0006740" - "NCIt:C84686" - "MeSH:D004652" - "MedDRA:10014567" "KNApSAcK:C00002285" "PMID:25303034" "PMID:11416615" @@ -14852,6 +14840,18 @@ "PMID:11853120" "PDBeChem:COC" "PMID:17551070" + "MEDGEN:41766" + "ICD9:253.8" + "SNOMEDCT:237722004" + "SCTID:237722004" + "NCIT:C84686" + "MESH:D004652" + "UMLS:C0014008" + "DOID:3642" + "MONDO:0006740" + "NCIt:C84686" + "MeSH:D004652" + "MedDRA:10014567" "UMLS:C1843285" "GARD:17384" "MESH:C564357" @@ -14878,7 +14878,6 @@ "UMLS:C0024591" "SNOMEDCT_US:405501007" "SNOMEDCT_US:213026003" - "PMID:33634981" "MESH:D015837" "ICD10:H81" "UMLS:C0042594" @@ -14905,6 +14904,7 @@ "EHDAA2:0003454" "FMA:73748" "EMAPA:35501" + "PMID:33634981" "Orphanet:289527" "MeSH:D014665" "SNOMEDCT:372787008" @@ -14945,13 +14945,13 @@ "Beilstein:3905193" "Reaxys:3905193" "MetaCyc:CPD-205" - "PMID:29875488" "EFO:0000595" "DOID:5495" "NCIT:C6534" "MEDGEN:233719" "UMLS:C1334801" "MONDO:0005067" + "PMID:29875488" "PMID:36006120" "PMID:34128465" "UMLS:C3888924" @@ -15153,15 +15153,15 @@ "MedDRA:10008803" "ICD9:117.2" "Orphanet:182" - "CAS:721-90-4" - "Reaxys:2218143" - "HMDB:HMDB0028995" "DOID:0080145" "MEDGEN:75996" "MONDO:0000871" "NCIT:C7953" "EFO:1001947" "UMLS:C0279583" + "CAS:721-90-4" + "Reaxys:2218143" + "HMDB:HMDB0028995" "GARD:9519" "DOID:0080767" "MEDGEN:299070" @@ -15521,8 +15521,8 @@ "PMID:1817037" "MetaCyc:CPD-13612" "PMID:29875488" - "UMLS:C1142533" "PMID:30992453" + "UMLS:C1142533" "ICD10:R71" "UMLS:C4020862" "SNOMEDCT_US:12222001" @@ -15807,6 +15807,10 @@ "CAS:11116-31-7" "Gmelin:1667354" "SNOMEDCT:113678002" + "DOID:3296" + "MeSH:D004482" + "MESH:D004482" + "MONDO:0005809" "NANDO:2200937" "NCIt:C2951" "ICD9:571.5" @@ -15823,10 +15827,6 @@ "MONDO:0005155" "MedDRA:10009213" "SCTID:19943007" - "MeSH:D004482" - "DOID:3296" - "MESH:D004482" - "MONDO:0005809" "UMLS:C0406659" "MEDGEN:590585" "ICD9:701.8" @@ -15868,8 +15868,8 @@ "ZFA:0001434" "EHDAA2:0001256" "EHDAA:2871" - "EHDAA:910" "TAO:0001434" + "EHDAA:910" "VHOG:0000300" "EFO:0003688" "EMAPA:16165" @@ -16330,11 +16330,11 @@ "SCTID:700062000" "MEDGEN:347366" "ICD9:758.89" + "UMLS:C1851310" "NCIt:C26778" "MedDRA:10028200" "ICD10:T02" "MedDRA:10017087" - "UMLS:C1851310" "GARD:17533" "ICD10EXP:L99.0*" "MESH:C562643" @@ -16611,8 +16611,8 @@ "SNOMEDCT:8455004" "FMA:59155" "MESH:D001050" - "SCTID:399916008" "EMAPA:37426" + "SCTID:399916008" "Wikipedia:Apocrine_sweat_gland" "BTO:0001458" "UMLS:C0930083" @@ -16771,11 +16771,11 @@ "CL:0000100" "PMID:29875488" "PMID:23241746" - "OMIM:303110" "UMLS:C0599035" "MeSH:C537132" "ICD10:E72.4" "OMIM:258870" + "OMIM:303110" "Orphanet:308621" "UMLS:C5679972" "NANDO:2201159" @@ -16798,12 +16798,12 @@ "CAS:2140-67-2" "Beilstein:47545" "PMID:22770225" - "SNOMEDCT_US:44574006" - "UMLS:C0151861" "SNOMEDCT_US:195021004" "SNOMEDCT_US:399020009" "UMLS:C0007193" "Fyler:1843" + "SNOMEDCT_US:44574006" + "UMLS:C0151861" "MEDGEN:355573" "MESH:C535860" "UMLS:C1865871" @@ -17270,6 +17270,10 @@ "MA:0002442" "MeSH:D010937" "SNOMEDCT:67036009" + "DOID:0060938" + "MEDGEN:1794211" + "OMIM:619565" + "UMLS:C5562001" "NCIT:C27038" "MedDRA:10048643" "ORDO:Orphanet_168956" @@ -17287,10 +17291,6 @@ "MONDO:0015691" "DOID:999" "UMLS:C1540912" - "DOID:0060938" - "MEDGEN:1794211" - "OMIM:619565" - "UMLS:C5562001" "Orphanet:79154" "MEDGEN:395350" "DOID:0111453" @@ -17330,8 +17330,8 @@ "NCIt:C34481" "NANDO:1200264" "PMID:35347128" - "PMID:24816252" "UMLS:C0038015" + "PMID:24816252" "OMIM:601451" "OMIM:117550" "MeSH:D058495" @@ -17346,10 +17346,10 @@ "MEDGEN:337494" "UMLS:C1846044" "SCTID:763311001" + "PMID:35347128" "SNOMEDCT:54000004" "NCIt:C74488" "FBbt:00005619" - "PMID:35347128" "ICD10:E72.8" "OMIM:300438" "MONDO:0005995" @@ -17484,10 +17484,10 @@ "OMIM:619112" "GARD:18268" "BTO:0004721" - "PMID:35347128" "BTO:0002419" "RRID:CVCL_0033" "CLO:0037295" + "PMID:35347128" "MONDO:0005641" "SCTID:62251004" "MeSH:D000453" @@ -17514,6 +17514,7 @@ "NCIt:C74718" "SNOMEDCT:117173006" "MedDRA:10044089" + "PMID:35050183" "NCIT:C4777" "MEDGEN:181751" "DOID:0060087" @@ -17525,7 +17526,6 @@ "SCTID:725166005" "Orphanet:93329" "OMIM:258315" - "PMID:35050183" "UMLS:C1867446" "UMLS:C1837260" "PMID:35995766" @@ -17829,8 +17829,8 @@ "PDBeChem:2ZE" "PMID:21812410" "PMID:23221037" - "CiteXplore:21917855" "CiteXplore:22339690" + "CiteXplore:21917855" "PMID:25429975" "PMID:31448675" "PMID:27265376" @@ -18104,11 +18104,11 @@ "NCIt:C26976" "OMIM:238320" "ICD10:Q56.1" + "PMID:29875488" "PMID:33430342" "SNOMEDCT_US:87065009" "MEDDRA:10028698" "UMLS:C0221260" - "PMID:29875488" "UMLS:C1857068" "OMIM:224800" "MESH:C565606" @@ -18199,6 +18199,8 @@ "MONDO:0006316" "NCIT:C6963" "UMLS:C1334953" + "ICD10:E74.0" + "OMIM:300257" "PMID:28526231" "Wikipedia:Endocrine_disruptor" "PMID:28356401" @@ -18223,8 +18225,6 @@ "DOID:8778" "SCTID:7620006" "ICD10:K50" - "ICD10:E74.0" - "OMIM:300257" "NCIt:C17651" "MeSH:D049629" "MedDRA:10060734" @@ -18618,12 +18618,12 @@ "UMLS:C5680918" "Orphanet:231120" "MEDGEN:1826157" + "PMID:35773277" "SCTID:388604008" "SNOMEDCT:388604008" "MEDGEN:693918" "MONDO:0005250" "UMLS:C1270169" - "PMID:35773277" "PMID:19213877" "Wikipedia:Ribosome_profiling" "CLO:0007129" @@ -19326,18 +19326,18 @@ "Wikipedia:Phenols" "UMLS:C2931402" "OMIM:219721" + "PMID:35347128" + "PMID:23823483" "MEDGEN:452440" "ICD9:483.1" "DOID:0040083" "UMLS:C0339959" "MESH:D061387" "SCTID:233609002" - "PMID:35347128" "NCIT:C128405" "UMLS:C0276139" "SCTID:70189005" "MEDGEN:547113" - "PMID:23823483" "Germplasm:4640315" "UMLS:C5551334" "ICD9:127.3" @@ -19447,14 +19447,14 @@ "MONDO:0000266" "MeSH:D055732" "PMID:29875488" + "OMIM:271250" + "ICD10:G11.1" "GARD:9350" "MEDGEN:75829" "NCIT:C3997" "UMLS:C0278510" "NANDO:2200090" "DOID:3869" - "OMIM:271250" - "ICD10:G11.1" "PMID:34503513" "PMID:25326703" "RRID:CVCL_2195" @@ -19600,11 +19600,11 @@ "Orphanet:139444" "DOID:0060088" "Orphanet:295205" + "PMID:29875488" "PMID:28240269" "UMLS:C1853383" "UMLS:C1839767" "UMLS:C1850072" - "PMID:29875488" "OMIMPS:601678" "Orphanet:112" "ICD9:255.13" @@ -19752,8 +19752,8 @@ "ICD9:270.2" "DOID:0090002" "PMID:29875488" - "PMID:33441150" "ZFA:0001113" + "PMID:33441150" "NCIt:C117131" "PMID:22355448" "MEDGEN:7273" @@ -19917,8 +19917,8 @@ "MEDGEN:233391" "NCIT:C5549" "UMLS:C1335683" - "CLO:0003650" "RRID:CVCL_1261" + "CLO:0003650" "FMA:84664" "SNOMEDCT:337915000" "NCIt:C14366" @@ -20285,11 +20285,11 @@ "NCIT:C6163" "UMLS:C1332563" "DOID:6481" + "ICD10:I71.0" + "OMIM:607086" "OMIM:613028" "UMLS:C2751642" "MEDGEN:414431" - "ICD10:I71.0" - "OMIM:607086" "PMID:37164013" "OMIM:619177" "DOID:0112273" @@ -20797,6 +20797,7 @@ "SNOMEDCT:8033002" "NCIt:C72366" "DOID:0050702" + "GAZ:00002802" "NANDO:2200036" "EFO:0007336" "SCTID:724649000" @@ -20813,7 +20814,6 @@ "MEDGEN:266041" "icd11.foundation:588958190" "Orphanet:86897" - "GAZ:00002802" "PMID:28024297" "DOID:1876" "UMLS:C0237873" @@ -20982,10 +20982,10 @@ "ICD9:239.89" "UMLS:C0039981" "SCTID:255058005" + "PMID:29875488" "OMIM:268800" "ICD10:E75.0" "UMLS:C0751491" - "PMID:29875488" "Orphanet:98562" "icd11.foundation:740223582" "SCTID:400951005" @@ -21085,6 +21085,15 @@ "MESH:D006393" "UMLS:C0018922" "MEDGEN:5478" + "Orphanet:45448" + "NANDO:1200217" + "DOID:0070198" + "MESH:C537480" + "OMIMPS:254130" + "GARD:9676" + "UMLS:C5553104" + "MEDGEN:1790866" + "NCIT:C118846" "NCIT:C50783" "MESH:D014264" "MEDGEN:21678" @@ -21096,15 +21105,6 @@ "DOID:4078" "UMLS:C0040963" "NANDO:2200300" - "Orphanet:45448" - "NANDO:1200217" - "DOID:0070198" - "MESH:C537480" - "OMIMPS:254130" - "GARD:9676" - "UMLS:C5553104" - "MEDGEN:1790866" - "NCIT:C118846" "PMID:28240269" "EV:0100098" "GAID:0000004" @@ -21149,7 +21149,6 @@ "MEDGEN:82704" "NANDO:2201367" "GARD:4612" - "https://orcid.org/0000-0002-9903-4248" "NORD:1430" "MedDRA:10060908" "OMIM:309350" @@ -21160,6 +21159,7 @@ "DOID:0111788" "Orphanet:2484" "SCTID:13449007" + "https://orcid.org/0000-0002-9903-4248" "CALOHA:TS-1040" "FMA:72208" "UMLS:C0206701" @@ -21351,10 +21351,10 @@ "UMLS:C0238518" "EFO:1000620" "PMID:34503513" + "PMID:23129659" "BTO:0000661" "RRID:CVCL_0065" "CLO:0007043" - "PMID:23129659" "DOID:0060294" "Orphanet:157820" "OMIMPS:272430" @@ -21570,6 +21570,7 @@ "MESH:D010468" "UMLS:C0030975" "PMID:33441150" + "Wikipedia:Pollination" "GARD:0006969" "NCIT:C4337" "icd11.foundation:1804127841" @@ -21589,7 +21590,6 @@ "SCTID:443487006" "Orphanet:52416" "ICD9:200.40" - "Wikipedia:Pollination" "UMLS:C1850268" "OMIM:258840" "GARD:8432" @@ -22198,6 +22198,12 @@ "PMID:28240269" "PMID:29875488" "PMID:29875488" + "UMLS:C3810160" + "Orphanet:401849" + "DOID:0110817" + "MEDGEN:816490" + "GARD:17660" + "OMIM:615625" "OMIM:300978" "OMIM:300419" "OMIM:300851" @@ -22245,12 +22251,6 @@ "OMIM:300923" "OMIM:300957" "OMIM:300355" - "UMLS:C3810160" - "Orphanet:401849" - "DOID:0110817" - "MEDGEN:816490" - "GARD:17660" - "OMIM:615625" "SNOMEDCT_US:399090003" "SNOMEDCT_US:271789005" "SNOMEDCT_US:399153001" @@ -22808,13 +22808,13 @@ "MEDGEN:4122" "GARD:8194" "MedDRA:10011775" - "PMID:23823483" "SCTID:78999002" "UMLS:C0029119" "ICD9:118" "ICD9:117.9" "MEDGEN:508004" "DOID:2473" + "PMID:23823483" "MEDGEN:1381843" "SCTID:733091002" "UMLS:C4518577" @@ -22831,9 +22831,9 @@ "MedDRA:10084239" "UMLS:C0796110" "OMIM:311450" + "PMID:35668104" "PMID:28369058" "PMID:27182965" - "PMID:35668104" "MEDGEN:41610" "MESH:D004198" "UMLS:C0012655" @@ -22855,14 +22855,14 @@ "UMLS:C5543038" "MEDGEN:1782465" "OMIM:619178" - "MEDGEN:1794248" - "OMIM:619651" - "UMLS:C5562038" "MedDRA:10008909" "MedDRA:10008915" "UMLS:C0019189" "NCIt:C82978" "SNOMEDCT:76783007" + "MEDGEN:1794248" + "OMIM:619651" + "UMLS:C5562038" "KEGG:C06894" "PMID:11322179" "PMID:19069618" @@ -23312,17 +23312,17 @@ "UMLS:C4310687" "DOID:0080456" "GARD:16205" - "ICD10:D64.0" "PMID:29875488" - "OMIM:605714" - "ICD10:I68.0*" - "ICD10:E85.4+" + "ICD10:D64.0" "UMLS:C4311049" "OMIM:300979" "GARD:17955" "MEDGEN:935016" "NCIT:C177544" "Orphanet:521258" + "OMIM:605714" + "ICD10:I68.0*" + "ICD10:E85.4+" "MONDO:0005998" "DOID:8399" "MeSH:D014323" @@ -23497,10 +23497,10 @@ "DOID:0060272" "GARD:10708" "SCTID:718609003" - "PMID:26324409" "OMIM:618825" "UMLS:C5394205" "MEDGEN:1716581" + "PMID:26324409" "PMID:34610981" "Beilstein:3600218" "CAS:115-09-3" @@ -23900,7 +23900,6 @@ "MeSH:C536085" "UMLS:C1839988" "OMIM:308205" - "PMID:29875488" "GARD:16450" "OMIM:158350" "RRID:CVCL_5137" @@ -23908,6 +23907,7 @@ "CLO:0009221" "RRID:CVCL_0547" "BTO:0000675" + "PMID:29875488" "OMIM:615438" "Orphanet:370088" "MEDGEN:815852" @@ -24082,8 +24082,8 @@ "CALOHA:TS-1098" "UMLS:C0227829" "Wikipedia:Vaginal_portion_of_cervix" - "MAT:0000478" "PMID:29875488" + "MAT:0000478" "NCIt:C16033" "ICD10:Z48" "ICD10:Z42" @@ -24335,11 +24335,6 @@ "NCIT:C118423" "GARD:1051" "OMIM:114000" - "SCTID:725045004" - "MEDGEN:1388250" - "Orphanet:251510" - "GARD:17211" - "UMLS:C4510744" "UMLS:C1838979" "MEDGEN:374101" "DOID:0060536" @@ -24347,6 +24342,11 @@ "NANDO:1200180" "GARD:3908" "MESH:C537475" + "SCTID:725045004" + "MEDGEN:1388250" + "Orphanet:251510" + "GARD:17211" + "UMLS:C4510744" "SCTID:764435003" "MEDGEN:482767" "OMIM:614526" @@ -24423,11 +24423,11 @@ "GARD:18747" "Orphanet:1772" "PMID:28240269" + "PMID:21085120" "Orphanet:397695" "UMLS:C4749427" "MEDGEN:1651953" "GARD:21633" - "PMID:21085120" "ICD10CM:I86.2" "DOID:9742" "MEDGEN:510082" @@ -24455,10 +24455,10 @@ "GARD:18445" "OMIM:300854" "PMID:29875488" - "PMID:29875488" "UMLS:C3508773" "Orphanet:99875" "MEDGEN:854083" + "PMID:29875488" "PMID:35347128" "SCTID:19242006" "MEDGEN:11026" @@ -24628,8 +24628,8 @@ "UMLS:C4749650" "Orphanet:3074" "GARD:3514" - "NCIt:C16149" "PMID:35995766" + "NCIt:C16149" "ZFS:0000020" "MEDGEN:1648365" "UMLS:C4749028" @@ -24852,9 +24852,9 @@ "MeSH:D005335" "ICD10:R50" "NCIt:C4720" + "PMID:29875488" "UMLS:C4025357" "UMLS:C0878621" - "PMID:29875488" "UMLS:C0410648" "SNOMEDCT_US:240220009" "UMLS:C1332875" @@ -25012,6 +25012,8 @@ "GARD:20718" "UMLS:C4329632" "Orphanet:251870" + "OMIM:607080" + "ICD10:Q56.1" "Orphanet:98991" "MedDRA:10057735" "UMLS:C5681644" @@ -25028,8 +25030,6 @@ "ICD9:082.49" "UMLS:C0483368" "DOID:0050025" - "OMIM:607080" - "ICD10:Q56.1" "MEDGEN:543189" "DOID:12571" "SCTID:392300000" @@ -25412,6 +25412,11 @@ "OMIM:260370" "OMIM:167755" "ICD10:Q45.0" + "MEDGEN:1648034" + "UMLS:C4707094" + "Orphanet:314389" + "GARD:21369" + "SCTID:764711007" "MEDGEN:91058" "DOID:4875" "EFO:1000598" @@ -25419,11 +25424,6 @@ "NCIT:C6051" "MONDO:0006471" "SCTID:254619006" - "MEDGEN:1648034" - "UMLS:C4707094" - "Orphanet:314389" - "GARD:21369" - "SCTID:764711007" "MESH:D003704" "MEDGEN:99229" "DOID:1307" @@ -26008,6 +26008,8 @@ "DOID:11885" "MESH:D014516" "MEDGEN:102303" + "OMIM:614199" + "ICD10:N04" "NCIT:C84353" "MEDGEN:140795" "SCTID:237091009" @@ -26018,8 +26020,6 @@ "NCIT:C4397" "BTO:0002875" "RRID:CVCL_3871" - "OMIM:614199" - "ICD10:N04" "PMID:10702418" "UMLS:C0685409" "SNOMEDCT_US:29271008" @@ -26369,14 +26369,14 @@ "PMID:28240269" "PMID:29875488" "FBdv:00005330" + "GARD:16872" + "Orphanet:98915" "SNOMEDCT:51253001" "SCTID:764690001" "GARD:12480" "UMLS:C4707057" "Orphanet:96055" "MEDGEN:1640242" - "GARD:16872" - "Orphanet:98915" "OMIM:300855" "DOID:0050781" "Orphanet:276432" @@ -26731,8 +26731,8 @@ "NLXANAT:090902" "TAO:0005250" "ZFA:0005250" - "ZFA:0005004" "PMID:24816252" + "ZFA:0005004" "SNOMEDCT:432195008" "SNOMEDCT:3583002" "NCIt:C73851" @@ -27035,21 +27035,25 @@ "Chemspider:65998789" "GARD:20064" "Orphanet:165707" + "OMIM:304110" + "MeSH:C536456" + "UMLS:C0220767" + "ICD10:Q87.1" + "PMID:31530798" "OMIM:605714" "ICD10:I68.0*" "ICD10:E85.4+" "UMLS:C1849811" "OMIM:261990" "MeSH:C537398" - "OMIM:304110" - "MeSH:C536456" - "UMLS:C0220767" - "ICD10:Q87.1" "PMID:28240269" - "PMID:31530798" + "MeSH:D016665" "PMID:23823483" "UMLS:C3272957" "NCIt:C96679" + "MEDGEN:1781649" + "OMIM:619229" + "UMLS:C5543202" "MESH:D005258" "Orphanet:47612" "MEDGEN:4674" @@ -27064,10 +27068,6 @@ "GARD:8234" "NORD:1135" "SCTID:57160007" - "MeSH:D016665" - "MEDGEN:1781649" - "OMIM:619229" - "UMLS:C5543202" "NANDO:2200469" "Orphanet:28378" "GARD:3105" @@ -27498,8 +27498,8 @@ "DOID:4617" "UMLS:C0031029" "MeSH:D010484" - "SCTID:81407003" "MEDGEN:45395" + "SCTID:81407003" "FMA:22988" "FMA:23000" "UMLS:C0222166" @@ -28357,12 +28357,12 @@ "MEDGEN:351246" "DOID:0070214" "MESH:C538376" + "FBdv:00005332" "GARD:19300" "UMLS:C4272018" "MEDGEN:1637768" "Orphanet:96059" "SCTID:764628000" - "FBdv:00005332" "PMID:28240269" "UMLS:C1855465" "ICD10CM:H35.5" @@ -28469,7 +28469,6 @@ "UMLS:C0752130" "MONDO:0020688" "MeSH:D020760" - "PMID:28240269" "TAO:0009167" "ZFA:0009167" "SAEL:3" @@ -28483,6 +28482,7 @@ "EMAPA:18426" "MA:0000116" "FMA:69262" + "PMID:28240269" "PMID:29875488" "ICD10:N46" "PMID:29875488" @@ -29226,6 +29226,14 @@ "NCIT:C116319" "UMLS:C2930917" "GARD:1327" + "PMID:29875488" + "OMIM:115080" + "NCIt:C50911" + "OMIM:617222" + "MeSH:D016757" + "OMIM:617223" + "MedDRA:10049418" + "SNOMEDCT:95281009" "SCTID:29422001" "NCIt:C34390" "MeSH:D055008" @@ -29239,14 +29247,6 @@ "ICD9:500" "ICD10:J60" "MEDGEN:8107" - "PMID:29875488" - "OMIM:115080" - "NCIt:C50911" - "OMIM:617222" - "MeSH:D016757" - "OMIM:617223" - "MedDRA:10049418" - "SNOMEDCT:95281009" "MEDGEN:48290" "MESH:D011778" "SCTID:186788009" @@ -29526,7 +29526,6 @@ "MEDGEN:102342" "ICD10CM:J37.0" "OMIM:262020" - "PMID:35347128" "icd11.foundation:2029519782" "SCTID:410056006" "MEDGEN:75688" @@ -29548,6 +29547,7 @@ "UMLS:C4707449" "WBls:0000003" "NCIt:C28147" + "PMID:35347128" "NCIt:C74661" "UMLS:C2698029" "PMID:27846195" @@ -29615,24 +29615,24 @@ "DOID:6067" "MEDGEN:235419" "PMID:29875488" + "PMID:35347128" "MESH:D011557" "MONDO:0005932" "UMLS:C0033839" "MeSH:D011557" "DOID:3902" "MEDGEN:18730" - "PMID:35347128" "CAS:147700-11-6" "Beilstein:8153842" "MeSH:C081320" + "UMLS:C0242422" + "SNOMEDCT_US:32798002" "OMIM:312080" "UMLS:C0205711" "MeSH:D020371" "MedDRA:10067610" "OMIM:213900" "ICD10:E75.2" - "UMLS:C0242422" - "SNOMEDCT_US:32798002" "UMLS:C1846357" "DOID:0070117" "GARD:8744" @@ -29669,8 +29669,8 @@ "ICDO:8520/3" "SCTID:278054005" "MEDGEN:64634" - "Orphanet:295077" "PMID:28240269" + "Orphanet:295077" "PMID:25101718" "GARD:19067" "UMLS:C4305255" @@ -29937,6 +29937,9 @@ "UMLS:C0030804" "NANDO:1200634" "DOID:11656" + "MeSH:D010367" + "NCIt:C72071" + "SNOMEDCT:75413007" "MONDO:0018161" "Orphanet:357034" "GARD:17545" @@ -29945,9 +29948,6 @@ "UMLS:CN204600" "UMLS:C5680987" "MEDGEN:1842255" - "MeSH:D010367" - "NCIt:C72071" - "SNOMEDCT:75413007" "PMID:35347128" "DOID:10435" "MEDGEN:543338" @@ -30838,8 +30838,8 @@ "OMIMPS:260370" "SCTID:719044008" "GARD:4203" - "NCIT:C2919" "OMIM:176807" + "NCIT:C2919" "DOID:2526" "MONDO:0005082" "SCTID:399490008" @@ -31106,15 +31106,15 @@ "OMIM:612934" "ICD10:E74.0" "PMID:29875488" + "UMLS:C5394674" + "Orphanet:329173" + "GARD:17494" + "MEDGEN:1720168" "UMLS:C0175692" "MeSH:C535880" "MedDRA:10074947" "OMIM:243800" "ICD10:Q87.8" - "UMLS:C5394674" - "Orphanet:329173" - "GARD:17494" - "MEDGEN:1720168" "PMID:29875488" "DOID:5624" "MEDGEN:163666" @@ -31384,8 +31384,8 @@ "NANDO:1200230" "ORDO:Orphanet_79481" "UMLS:C0563211" - "SCTID:285310000" "MESH:C563020" + "SCTID:285310000" "Orphanet:424013" "NCIT:C7489" "OMIM:105580" @@ -31574,6 +31574,11 @@ "MONDO:0000536" "DOID:0050921" "OMIM:300886" + "ZFA:0009017" + "NCIt:C13014" + "CALOHA:TS-1195" + "SNOMEDCT:53945006" + "FMA:83553" "ICD9:774.4" "MEDGEN:510683" "MONDO:0006595" @@ -31581,12 +31586,6 @@ "SCTID:10877007" "DOID:11452" "MedDRA:10034513" - "ZFA:0009017" - "NCIt:C13014" - "CALOHA:TS-1195" - "SNOMEDCT:53945006" - "FMA:83553" - "PMID:35347128" "PMID:28240269" "http://orcid.org/0000-0001-9043-693X" "GARD:17724" @@ -31631,6 +31630,7 @@ "MESH:C538022" "FMA:13354" "NCIt:C32824" + "PMID:35347128" "MEDGEN:1634304" "UMLS:C4693347" "DOID:0111555" @@ -31665,12 +31665,12 @@ "UMLS:C1832423" "PMID:29875488" "PMID:29875488" - "Orphanet:261893" - "icd11.foundation:1109271336" - "GARD:20809" "SCTID:50330009" "UMLS:C0750946" "MEDGEN:148206" + "Orphanet:261893" + "icd11.foundation:1109271336" + "GARD:20809" "UMLS:C0013364" "OMIM:223900" "MeSH:D004402" @@ -31730,6 +31730,7 @@ "MESH:C536840" "UMLS:C0431637" "MeSH:C537371" + "PMID:23823483" "MEDGEN:335399" "SCTID:700111000" "OMIM:607364" @@ -31737,7 +31738,6 @@ "DOID:0110144" "UMLS:C1846343" "GARD:9659" - "PMID:23823483" "PMID:28928442" "PMID:29875488" "Orphanet:295079" @@ -32112,18 +32112,18 @@ "UMLS:C1519651" "NCIT:C37866" "GARD:7060" - "MEDGEN:1810905" - "OMIM:619845" - "UMLS:C5676970" - "NCIt:C74475" - "MeSH:D029741" - "SNOMEDCT:86147000" "UMLS:C1336522" "MONDO:0006436" "EFO:1000555" "NCIT:C5935" "MEDGEN:277773" "SCTID:423189008" + "MEDGEN:1810905" + "OMIM:619845" + "UMLS:C5676970" + "NCIt:C74475" + "MeSH:D029741" + "SNOMEDCT:86147000" "PMID:31396565" "DOID:6554" "ICDO:8313/3" @@ -32153,6 +32153,7 @@ "MEDGEN:1613956" "DOID:0060191" "UMLS:C4544979" + "NCIT:C3469" "EFO:1000438" "UMLS:C4085370" "SCTID:274142002" @@ -32162,7 +32163,6 @@ "MESH:D004387" "EFO:0004229" "SCTID:203045001" - "NCIT:C3469" "ICD9:282.40" "GARD:7756" "ICD10CM:D56" @@ -32313,8 +32313,6 @@ "Wikipedia:Amitriptyline" "KEGG:C06824" "HMDB:HMDB0014466" - "OMIM:607161" - "ICD10:Q87.8" "NCIT:C4984" "MEDGEN:181539" "UMLS:C0919267" @@ -32328,6 +32326,8 @@ "UMLS:C0742906" "UMLS:C4023452" "PMID:29875488" + "OMIM:607161" + "ICD10:Q87.8" "PMID:25729734" "PMID:15465040" "PMID:25125396" @@ -32739,13 +32739,13 @@ "ICD10CM:D07.0" "ICD9:233.2" "MEDGEN:87545" + "icd11.foundation:565435388" "SCTID:205306000" "MEDGEN:539335" "UMLS:C0265570" "HP:0009812" "GARD:21190" "Orphanet:294967" - "icd11.foundation:565435388" "MESH:C537940" "Orphanet:96061" "UMLS:C1096527" @@ -32838,8 +32838,8 @@ "UMLS:C4318747" "MEDGEN:1389203" "NCIT:C131526" - "Orphanet:261559" "PMID:28240269" + "Orphanet:261559" "OMIM:606056" "SCTID:725028009" "MEDGEN:342954" @@ -33053,8 +33053,8 @@ "MEDGEN:1826141" "GARD:21403" "Orphanet:316240" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02798&Product=CC" "SNOMEDCT:438470009" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02798&Product=CC" "OMIM:608571" "ICD10:Q73.8" "Orphanet:220386" @@ -33777,6 +33777,14 @@ "SCTID:717772000" "ICD10:Q87.8" "PMID:28240269" + "OMIM:613002" + "OMIM:614849" + "ICD10:B00.4+" + "OMIM:617900" + "OMIM:616532" + "ICD10:G05.1*" + "OMIM:614850" + "OMIM:610551" "CAS:30344-00-4" "PMID:15827267" "PMID:16380646" @@ -33800,14 +33808,6 @@ "PMID:21278301" "PMID:11437716" "PMID:21303648" - "OMIM:613002" - "OMIM:614849" - "ICD10:B00.4+" - "OMIM:617900" - "OMIM:616532" - "ICD10:G05.1*" - "OMIM:614850" - "OMIM:610551" "UMLS:C0232180" "SNOMEDCT_US:442119001" "SNOMEDCT_US:253175003" @@ -33958,7 +33958,6 @@ "Orphanet:247582" "NANDO:1200978" "PMID:29875488" - "MeSH:D065851" "KEGG DRUG:D00715 \"KEGG DRUG\"" "Reaxys:8173227 \"Reaxys Registry Number\"" "DrugBank:DB00462" @@ -33980,6 +33979,7 @@ "MEDGEN:235339" "NCIT:C7070" "UMLS:C1334811" + "MeSH:D065851" "TAO:0000671" "EFO:0003555" "ZFA:0000671" @@ -34095,21 +34095,21 @@ "MTH:217" "DOID:6543" "NCIT:C27195" - "OMIM:269860" - "ICD10:Q77.2" "SNOMEDCT:73427004" "KEGG:C02530" "MeSH:D002788" "PMID:2474544" - "UMLS:C0271695" - "ICD10:E13" - "MeSH:D056731" - "OMIM:262190" + "OMIM:269860" + "ICD10:Q77.2" "Orphanet:440731" "OMIM:615604" "GARD:17748" "UMLS:C3810090" "MEDGEN:816420" + "UMLS:C0271695" + "ICD10:E13" + "MeSH:D056731" + "OMIM:262190" "SNOMEDCT:68916009" "OMIM:258200" "ICD10:Q87.2" @@ -35171,9 +35171,9 @@ "SNOMEDCT:14420006" "MeSH:D009620" "FMA:6230" + "ICD10:D69.1" "PMID:29875488" "PMID:29160300" - "ICD10:D69.1" "DOID:11465" "MESH:D001342" "SCTID:128123007" @@ -35302,12 +35302,6 @@ "CLO:0001654" "RRID:CVCL_1067" "BTO:0003846" - "PMID:26068415" - "UMLS:C1852372" - "GARD:8295" - "Orphanet:1460" - "DOID:0111139" - "MEDGEN:377658" "OMIM:617253" "OMIM:606744" "OMIM:616777" @@ -35322,6 +35316,12 @@ "OMIM:614728" "OMIM:616171" "OMIM:600546" + "PMID:26068415" + "UMLS:C1852372" + "GARD:8295" + "Orphanet:1460" + "DOID:0111139" + "MEDGEN:377658" "MedDRA:10061137" "OMIM:613076" "ICD10:G71.3" @@ -35380,8 +35380,8 @@ "MEDGEN:1674241" "GARD:21486" "Orphanet:329249" - "PMID:35347128" "Fyler:4013" + "PMID:35347128" "PMID:24816252" "Orphanet:261911" "GARD:1346" @@ -35660,11 +35660,11 @@ "MEDGEN:1823965" "PMID:24816252" "PMID:28240269" - "PMID:35347128" "MEDGEN:1785711" "GARD:18273" "UMLS:C5543280" "OMIM:619271" + "PMID:35347128" "MESH:C564200" "MEDGEN:333882" "GARD:17995" @@ -35841,7 +35841,6 @@ "ICD9:356.2" "NCIT:C125386" "DOID:0050548" - "PMID:34814699" "UMLS:C0009207" "SCTID:21086008" "MedDRA:10009835" @@ -35855,6 +35854,7 @@ "ICD9:759.89" "Orphanet:191" "GARD:6122" + "PMID:34814699" "GARD:21227" "UMLS:C5679987" "MEDGEN:1843434" @@ -35992,6 +35992,7 @@ "DOID:2930" "MONDO:0005660" "MeSH:D045463" + "OMIM:615285" "OMIM:300607" "OMIM:300423" "OMIM:300088" @@ -36017,7 +36018,6 @@ "UMLS:C0870082" "OMIM:604314" "MeSH:D017541" - "OMIM:615285" "MEDGEN:1645733" "OMIM:618015" "UMLS:C4693947" @@ -36621,11 +36621,11 @@ "UMLS:C4310806" "SCTID:722457005" "OMIM:612018" + "RRID:CVCL_D7EM" + "PMID:30241395" "UMLS:C3280689" "MEDGEN:482319" "OMIM:614400" - "RRID:CVCL_D7EM" - "PMID:30241395" "UMLS:C1291230" "ICD10:E71.3" "Orphanet:98456" @@ -36715,13 +36715,13 @@ "MeSH:C536564" "ICD10:Q74.8" "PMID:32641083" + "FBbt:00016000" "DOID:0110285" "Orphanet:254361" "MEDGEN:462339" "GARD:12542" "UMLS:C3150989" "OMIM:613723" - "FBbt:00016000" "PMID:29875488" "MEDGEN:1787833" "UMLS:C5543406" @@ -37182,8 +37182,8 @@ "UMLS:C5676951" "NCIt:C12762" "FMA:54879" - "Wikipedia:Accessory_nail_of_the_fifth_toe" "PMID:24816252" + "Wikipedia:Accessory_nail_of_the_fifth_toe" "SCTID:128598002" "DOID:16" "MEDGEN:712400" @@ -37834,6 +37834,10 @@ "Orphanet:140474" "PMID:35050183" "PMID:34814699" + "UMLS:C5437813" + "MEDGEN:1730289" + "GARD:21228" + "Orphanet:295241" "SCTID:403762003" "OMIM:257980" "MESH:C537742" @@ -37841,10 +37845,6 @@ "GARD:4054" "Orphanet:2721" "MEDGEN:208666" - "UMLS:C5437813" - "MEDGEN:1730289" - "GARD:21228" - "Orphanet:295241" "PMID:35995766" "PMID:28240269" "ICD9:017.96" @@ -38036,6 +38036,7 @@ "OMIM:617258" "UMLS:C4310645" "DOID:0080308" + "UMLS:C1837084" "ICD9:367.32" "ICD10CM:H52.32" "SCTID:16059006" @@ -38049,7 +38050,6 @@ "MEDGEN:1943" "DOID:0050304" "MESH:D000839" - "UMLS:C1837084" "NCIT:C3674" "UMLS:C0178830" "MONDO:0006054" @@ -38111,6 +38111,8 @@ "XAO:0000238" "MIAA:0000050" "NCIT:C12390" + "PMID:36848389" + "BTO:0000106" "MESH:D009107" "ICD9:072" "SCTID:36989005" @@ -38123,8 +38125,6 @@ "UMLS:C0026780" "DOID:10304" "DOID:10264" - "BTO:0000106" - "PMID:36848389" "ICD9:379.24" "UMLS:C0700141" "MEDGEN:1843447" @@ -38136,10 +38136,6 @@ "UMLS:C0796088" "SCTID:725908007" "OMIM:256690" - "Orphanet:309813" - "GARD:21346" - "ICD10CM:E80.4" - "SCTID:403832004" "GARD:5100" "GARD:0005100" "MedDRA:10042926" @@ -38153,6 +38149,10 @@ "MONDO:0019392" "UMLS:C0406803" "Orphanet:840" + "Orphanet:309813" + "GARD:21346" + "ICD10CM:E80.4" + "SCTID:403832004" "PMID:24212143" "PMID:22525741" "PMID:10370651" @@ -38361,12 +38361,12 @@ "MESH:D011843" "PMID:29875488" "MCC:0000105" - "OMIM:610532" - "ICD10:G37.8" "MEDGEN:124526" "NCIT:C9091" "DOID:4813" "UMLS:C0278873" + "OMIM:610532" + "ICD10:G37.8" " CLO:0051042" " CLO:0051043" "RRID:CVCL_0119" @@ -38507,8 +38507,8 @@ "DOID:1852" "MEDGEN:3042" "SCTID:235888006" - "ZFA:0001376" "PMID:30049742" + "ZFA:0001376" "ICD9:780.79" "NCIt:C3037" "Wikipedia:Chronic_fatigue_syndrome" @@ -38692,6 +38692,7 @@ "PMID:29875488" "ICD10:G60.0" "PMID:29875488" + "PMID:35347128" "SCTID:297231002" "NCIT:C84585" "Orphanet:111" @@ -38705,14 +38706,13 @@ "OMIM:302060" "NANDO:2200751" "GARD:5890" - "MeSH:D028361" - "DOID:700" - "PMID:35347128" "MEDGEN:924883" "Orphanet:521390" "GARD:17957" "OMIM:617296" "UMLS:C4284592" + "MeSH:D028361" + "DOID:700" "ICD10:E26.0" "OMIM:617027" "PMID:29875488" @@ -39349,8 +39349,8 @@ "ENVO:02000032" "MA:0001286" "ZFA:0005561" - "FMA:58822" "MESH:D014822" + "FMA:58822" "NCIT:C13323" "EV:0100344" "VHOG:0000795" @@ -39643,6 +39643,7 @@ "MA:0003192" "TAO:0000996" "NCIt:C121331" + "FBbt:00005614" "MESH:C563463" "MEDGEN:318896" "GARD:17151" @@ -39650,7 +39651,6 @@ "Orphanet:228308" "UMLS:C1833518" "OMIM:608836" - "FBbt:00005614" "SNOMEDCT_US:302215000" "MeSH:D013921" "UMLS:C0040034" @@ -40468,6 +40468,7 @@ "MESH:D009808" "MEDGEN:10426" "NCIT:C3286" + "PMID:36848389" "XAO:0000428" "TAO:0000295" "EV:0100491" @@ -40486,7 +40487,6 @@ "DOID:4045" "SCTID:363495004" "ICD10:C49" - "PMID:36848389" "OMIM:614326" "ICD10:Q87.8" "PMID:25079324" @@ -40554,11 +40554,11 @@ "UMLS:C3553617" "PMID:33669428" "PMID:29875488" - "PMID:29875488" "NCIT:C7646" "DOID:8140" "MEDGEN:231355" "UMLS:C1332176" + "PMID:29875488" "PMID:24816252" "PMID:29875488" "PMID:31530798" @@ -40635,13 +40635,13 @@ "PMID:22002881" "OMIM:607671" "ICD10:G24.1" + "PMID:37164013" "GARD:22389" "Orphanet:596008" "MEDGEN:422448" "DOID:0081290" "OMIM:207410" "UMLS:C2936791" - "PMID:37164013" "SNOMEDCT:243430004" "Orphanet:247623" "GARD:17191" @@ -40794,8 +40794,8 @@ "VHOG:0000101" "TAO:0001238" "XAO:0000185" - "MESH:D007498" "GAID:917" + "MESH:D007498" "AAO:0010347" "EMAPA:19154" "FMA:58235" @@ -41084,7 +41084,6 @@ "GARD:16760" "MEDGEN:390802" "PMID:29875488" - "PMID:34814699" "MEDGEN:64439" "UMLS:C0205770" "MESH:D020288" @@ -41098,6 +41097,7 @@ "MedDRA:10008777" "GARD:4214" "NANDO:2200093" + "PMID:34814699" "NANDO:2200602" "SCTID:398036000" "MEDGEN:152875" @@ -41698,6 +41698,7 @@ "GARD:8240" "UMLS:C1840386" "MEDGEN:326724" + "PMID:35347128" "PMID:24816252" "PMID:28092691" "MESH:D002181" @@ -41714,7 +41715,6 @@ "MEDGEN:760584" "UMLS:C3267032" "NCIT:C104003" - "PMID:35347128" "OMIM:609340" "ICD10:G11.4" "PMID:29875488" @@ -41759,6 +41759,8 @@ "BFO:function" "SNOMEDCT:246464006" "SNOMEDCT:277064003" + "ICD10:Q11.2" + "OMIM:611222" "CALOHA:TS-0452" "NCIt:C32734" "FMA:67763" @@ -41767,8 +41769,6 @@ "UMLS:C5830516" "MEDGEN:1841152" "OMIM:620374" - "ICD10:Q11.2" - "OMIM:611222" "SNOMEDCT:66591004" "MONDO:0002269" "ICD10:K52" @@ -41995,6 +41995,15 @@ "GARD:16693" "Orphanet:251651" "UMLS:CN201945" + "MEDGEN:1826073" + "GARD:18643" + "UMLS:C5680181" + "Orphanet:88616" + "DOID:0060308" + "OMIMPS:249500" + "RRID:CVCL_0504" + "BTO:0001890" + "CLO:0008825" "UMLS:C0085253" "DOID:14256" "NANDO:1200282" @@ -42013,15 +42022,6 @@ "MeSH:D016706" "ICD9:714.2" "ICD9:759.89" - "MEDGEN:1826073" - "GARD:18643" - "UMLS:C5680181" - "Orphanet:88616" - "DOID:0060308" - "OMIMPS:249500" - "RRID:CVCL_0504" - "BTO:0001890" - "CLO:0008825" "UMLS:C1862382" "SCTID:724384008" "MESH:C566236" @@ -42684,6 +42684,8 @@ "NCIt:C54575" "SNOMEDCT:264337003" "PMID:29875488" + "RRID:CVCL_0839" + "BTO:0002260" "Orphanet:247638" "GARD:20662" "ICD10CM:E83.3" @@ -42692,8 +42694,6 @@ "MEDGEN:87254" "ICDO:9020/0" "PMID:24816252" - "RRID:CVCL_0839" - "BTO:0002260" "CAS:7440-43-9" "WebElements:Cd" "SNOMEDCT:66586000" @@ -42764,8 +42764,8 @@ "MeSH:D020144" "UMLS:C0751739" "MEDGEN:148381" - "MONDO:0006505" "DOID:10991" + "MONDO:0006505" "MESH:D020144" "PMID:35347128" "DOID:11503" @@ -42798,9 +42798,9 @@ "UMLS:C0432268" "MESH:C536053" "OMIM:300373" - "PMID:37164013" "OMIM:248190" "UMLS:C2931121" + "PMID:37164013" "UMLS:C0877024" "MedDRA:10048699" "OMIM:242900" @@ -43163,9 +43163,9 @@ "OMIM:187600" "ICD10:Q77.4" "PMID:36168886" + "PMID:24056935" "NCIt:C106048" "MeSH:D047369" - "PMID:24056935" "CiteXplore:15686870" "PMID:19340096" "KEGG COMPOUND:C19212" @@ -43198,8 +43198,8 @@ "SNOMEDCT_US:398309008" "UMLS:C1301937" "UMLS:C3552713" - "OMIM:620762" "OMIM:309510" + "OMIM:620762" "NCIt:C3970" "UMLS:C1879362" "SNOMEDCT_US:56595005" @@ -43507,8 +43507,8 @@ "ICD9:253.4" "SCTID:51742006" "ICD9:253.9" - "MEDGEN:148306" "UMLS:C0751437" + "MEDGEN:148306" "NCIT:C6650" "MEDGEN:231054" "EFO:0008490" @@ -44471,6 +44471,13 @@ "UMLS:C0600066" "NCIT:C4275" "UMLS:C3150613" + "GARD:1583" + "OMIM:602558" + "UMLS:C1865184" + "MEDGEN:355396" + "MESH:C566522" + "SCTID:725098001" + "Orphanet:1524" "icd11.foundation:195467267" "NCIt:C79777" "MEDGEN:4501" @@ -44485,13 +44492,6 @@ "Orphanet:95455" "MedDRA:10043221" "GARD:7743" - "GARD:1583" - "OMIM:602558" - "UMLS:C1865184" - "MEDGEN:355396" - "MESH:C566522" - "SCTID:725098001" - "Orphanet:1524" "Orphanet:401953" "UMLS:C4015108" "DOID:0050996" @@ -44561,7 +44561,6 @@ "UMLS:C4275151" "Orphanet:1084" "SCTID:715406003" - "PMID:35347128" "FMA:85521" "http://evolution.berkeley.edu/evolibrary/images/history/notochords.jpg" "Wikipedia:Notochord" @@ -44584,6 +44583,7 @@ "TAO:0000135" "EMAPA:16191" "ZFA:0000135" + "PMID:35347128" "PMID:28108659" "OMIM:262600" "OMIM:182230" @@ -44680,11 +44680,11 @@ "BTO:0002135" "NCIt:C12473" "MeSH:D013583" - "NCIt:C61551" "UMLS:CN206810" "ICD10:Q87.3" "Orphanet:96076" "PMID:26068415" + "NCIt:C61551" "PMID:11985490" "PMID:29017833" "PMID:19625514" @@ -44942,10 +44942,10 @@ "MAT:0000494" "MA:0000118" "EMAPA:18427" + "PMID:29875488" "UMLS:C1261128" "OMIM:176690" "MeSH:C536422" - "PMID:29875488" "GARD:21349" "UMLS:C5681033" "Orphanet:309824" @@ -45032,8 +45032,6 @@ "DOID:11387" "UMLS:C0270629" "MONDO:0005752" - "MeSH:D045826" - "DOID:50364" "KEGG COMPOUND:C19458" "MEDGEN:354548" "UMLS:C1720956" @@ -45047,6 +45045,8 @@ "GARD:21580" "UMLS:C5191050" "MEDGEN:1680592" + "MeSH:D045826" + "DOID:50364" "PMID:28240269" "UMLS:C0344622" "ICD-10:Q20.4" @@ -45087,8 +45087,8 @@ "EFO:0003054" "UMLS:C0040184" "NCIT:C12800" - "EMAPA:19142" "Wikipedia:Tibia" + "EMAPA:19142" "FMA:24476" "BTO:0001252" "GAID:204" @@ -45200,8 +45200,8 @@ "OMIM:617917" "OMIM:608673" "ICD10:G60.0" - "PMID:28240269" "PMID:36168886" + "PMID:28240269" "SCTID:719166003" "GARD:10611" "Orphanet:156728" @@ -45246,14 +45246,14 @@ "GARD:16624" "Orphanet:3231" "PMID:35668104" + "MEDGEN:481346" + "UMLS:C3279716" + "OMIM:614063" "UMLS:C0795841" "MeSH:D054868" "NCIt:C75457" "OMIM:147791" "ICD10:Q93.5" - "MEDGEN:481346" - "UMLS:C3279716" - "OMIM:614063" "NORD:1143" "MedDRA:10068715" "SCTID:82725007" @@ -45427,9 +45427,9 @@ "MEDGEN:18377" "ICD10:I31" "UMLS:C0031046" + "MONDO:0005904" "ICD10:I30" "DOID:1787" - "MONDO:0005904" "SCTID:3238004" "NCIT:C34915" "Orphanet:58208" @@ -45483,9 +45483,9 @@ "NCIT:C123330" "DOID:4448" "MONDO:0003004" + "MedDRA:10025409" "MESH:D008268" "MEDGEN:7434" - "MedDRA:10025409" "SCTID:422338006" "GARD:2088" "Orphanet:287" @@ -45561,8 +45561,8 @@ "UMLS:C1854150" "PMID:35347128" "CMO:0000268" - "BTO:0004812" "PMID:24816252" + "BTO:0004812" "PMID:31015401" "UMLS:C0028064" "NCIt:C61269" @@ -45736,6 +45736,14 @@ "PMID:29875488" "PMID:35347128" "PMID:11807979" + "MEDGEN:96081" + "ICD10:M50" + "SCTID:69195002" + "MONDO:0044343" + "NCIt:C27156" + "NCIT:C27156" + "UMLS:C0410606" + "UMLS:C0158262" "SCTID:766983005" "OMIM:608957" "MESH:C563824" @@ -45745,14 +45753,6 @@ "NANDO:2200699" "MEDGEN:323058" "ZFA:0001131" - "MEDGEN:96081" - "ICD10:M50" - "SCTID:69195002" - "MONDO:0044343" - "NCIt:C27156" - "NCIT:C27156" - "UMLS:C0410606" - "UMLS:C0158262" "ICD9:750.0" "SCTID:67787004" "ICD10CM:Q38.1" @@ -45991,9 +45991,9 @@ "NCIT:C8181" "MEDGEN:76094" "Orphanet:500478" + "UMLS:C0280313" "ONCOTREE:OPHSC" "GARD:17928" - "UMLS:C0280313" "icd11.foundation:839740136" "FBbt:00005066" "MeSH:D005216" @@ -46076,11 +46076,11 @@ "PMID:21610164" "RRID:CVCL_0122" "BTO:0001169" - "OMIM:609352" - "ICD10:Q81.0" "ICD10:G71.3" "OMIM:614052" "PMID:24816252" + "OMIM:609352" + "ICD10:Q81.0" "NCIT:C6840" "MEDGEN:277347" "DOID:7868" @@ -46195,8 +46195,8 @@ "UMLS:C1263887" "UMLS:CN228909" "Orphanet:100981" - "http://orcid.org/0000-0003-4183-8865" "OMIMPS:314580" + "http://orcid.org/0000-0003-4183-8865" "RRID:CVCL_0590" "MEDGEN:52365" "NCIT:C35025" @@ -46385,8 +46385,8 @@ "PMID:6716399" "Reaxys:233363" "PMID:8691481" - "PMID:3950916" "PMID:15324906" + "PMID:3950916" "PMID:1681105" "PMID:10891117" "PMID:1495012" @@ -46764,12 +46764,12 @@ "PMID:29875488" "PMID:35347128" "PMID:29875488" + "PMID:28240269" "ZFA:0000422" "OMIM:194300" "MEDGEN:348571" "DOID:0111573" "UMLS:C1860238" - "PMID:28240269" "UMLS:C0272085" "ICD10:D57.2" "OMIM:620152" @@ -47228,12 +47228,12 @@ "ICD9:282.49" "UMLS:C0272005" "OMIM:618158" + "PMID:35347128" "UMLS:C0270958" "SCTID:716338001" "GARD:8270" "Orphanet:2349" "MEDGEN:82860" - "PMID:35347128" "MEDGEN:233442" "NCIT:C7074" "UMLS:C1335951" @@ -47672,8 +47672,8 @@ "Drug_Central:1587" "Beilstein:4276619" "LINCS:LSM-5756" - "DrugBank:DB00722" "CAS:76547-98-3" + "DrugBank:DB00722" "UMLS:C0334271" "ICDO:8122/3" "MEDGEN:83120" @@ -47683,6 +47683,12 @@ "BTO:0000293" "FMA:67325" "EV:0100170" + "NCIT:C6238" + "MONDO:0006201" + "UMLS:C1333473" + "EFO:1000246" + "DOID:2764" + "MEDGEN:232471" "MEDGEN:67439" "DOID:0050477" "NORD:2034" @@ -47697,12 +47703,6 @@ "Orphanet:526" "SCTID:707747007" "MedDRA:10052313" - "NCIT:C6238" - "MONDO:0006201" - "UMLS:C1333473" - "EFO:1000246" - "DOID:2764" - "MEDGEN:232471" "KNApSAcK:C00019688" "KEGG:C03406" "CAS:2387-71-5" @@ -47842,7 +47842,6 @@ "UMLS:C0851693" "DOID:5716" "MEDGEN:163414" - "NCIT:C33038" "BTO:0000752" "MAT:0000443" "CALOHA:TS-2102" @@ -47857,6 +47856,7 @@ "AAO:0011005" "MESH:D042601" "UMLS:C0229889" + "NCIT:C33038" "PMID:35050183" "PMID:35347128" "SNOMEDCT_US:197270009" @@ -48388,9 +48388,9 @@ "CLO:0003647" "MeSH:C537851" "UMLS:C1859083" + "PMID:34610981" "PMID:23852452" "UMLS:C1851897" - "PMID:34610981" "PMID:31015401" "MeSH:D013298" "NCIt:C86806" @@ -48560,13 +48560,13 @@ "DOID:3491" "icd11.foundation:1987089698" "ICD10:F23" - "PMID:28240269" "MIAA:0000210" "MESH:D003335" "MAT:0000210" "EFO:0000379" "FBbt:00005800" "BTO:0000291" + "PMID:28240269" "Orphanet:209056" "GARD:20431" "UMLS:C5680842" @@ -48667,17 +48667,17 @@ "GARD:9980" "DOID:0111832" "MEDGEN:337122" - "MEDGEN:856014" - "OMIM:615807" - "GARD:16013" - "DOID:0070009" - "UMLS:C3891452" "MeSH:D013661" "UMLS:C1848922" "UMLS:C0039373" "ICD10:E75.0" "OMIM:272800" "MedDRA:10043147" + "MEDGEN:856014" + "OMIM:615807" + "GARD:16013" + "DOID:0070009" + "UMLS:C3891452" "UMLS:C4023342" "UMLS:C4020748" "Orphanet:139536" @@ -49039,13 +49039,13 @@ "ICD10EXP:E72.0+" "ICD10EXP:N16.3*" "PMID:28240269" + "MP:0002975" "SCTID:92027006" "DOID:0060094" "UMLS:C0684516" "NCIT:C4880" "ICD9:213.9" "MEDGEN:146337" - "MP:0002975" "EFO:0003577" "TAO:0000815" "ZFA:0000815" @@ -49342,8 +49342,8 @@ "GARD:12356" "DOID:0070236" "UMLS:C3810012" - "MEDGEN:816342" "OMIM:615582" + "MEDGEN:816342" "MONDO:0014262" "MEDGEN:232156" "NCIT:C7032" @@ -49756,6 +49756,8 @@ "PMID:35995766" "Orphanet:485382" "OMIM:618723" + "UMLS:C1333977" + "NCIt:C27687" "ICD10CM:J36" "SCTID:15033003" "UMLS:C0031157" @@ -49780,8 +49782,6 @@ "EMAPA:32837" "BAMS:SA" "BM:Tel-Spt" - "UMLS:C1333977" - "NCIt:C27687" "GARD:117" "UMLS:C0265227" "ICD9:759.89" @@ -49855,19 +49855,19 @@ "DOID:2135" "SCTID:363468009" "ICD10CM:C71.2" + "PMID:31015401" "NCIT:C6187" "MEDGEN:277591" "DOID:6118" "UMLS:C1335751" "UMLS:C3279222" - "PMID:31015401" + "PMID:26417704" "DOID:0081431" "MEDGEN:1613834" "Orphanet:572773" "OMIM:617604" "GARD:18655" "UMLS:C4539873" - "PMID:26417704" "MeSH:D016158" "MEDGEN:1748867" "GARD:18570" @@ -50018,13 +50018,13 @@ "PMID:29875488" "ICD10:E85.0" "MedDRA:10070594" + "PMID:33634981" "OMIM:190360" "MESH:C566032" "MEDGEN:349898" "GARD:5261" "UMLS:C1860822" "Orphanet:3361" - "PMID:33634981" "PMID:28240269" "UMLS:C0278110" "MEDGEN:124456" @@ -50370,17 +50370,10 @@ "MEDGEN:333014" "DOID:0050600" "OMIM:600501" - "SNOMEDCT:445559002" "MEDGEN:79186" "UMLS:C0280801" "NCIT:C38938" - "MEDGEN:56303" - "NCIT:C7379" - "ICD9:154.2" - "DOID:14110" - "ICD9:154.3" - "UMLS:C0153446" - "SCTID:363352004" + "SNOMEDCT:445559002" "UMLS:C0008441" "ICDO:9230/0" "GARD:0006047" @@ -50394,6 +50387,13 @@ "ONCOTREE:CHBL" "NCIT:C2945" "DOID:2649" + "MEDGEN:56303" + "NCIT:C7379" + "ICD9:154.2" + "DOID:14110" + "ICD9:154.3" + "UMLS:C0153446" + "SCTID:363352004" "Orphanet:199348" "OMIM:607483" "SCTID:723557004" @@ -50485,11 +50485,11 @@ "MEDGEN:1830493" "DOID:0070065" "OMIM:616355" + "NCIT:C95596" "MEDGEN:412161" "DOID:5711" "NCIT:C40321" "UMLS:C2184082" - "NCIT:C95596" "OMIM:261100" "ICD10:D51.1" "PMID:1525488" @@ -50998,6 +50998,7 @@ "PMID:17279692" "Gmelin:346191" "MetaCyc:ARACHIDIC_ACID" + "PMID:33634981" "Patent:US2581868" "CAS:91-80-5" "Reaxys:220729" @@ -51013,7 +51014,6 @@ "MeSH:D008701" "PMID:11137066" "Drug_Central:1738" - "PMID:33634981" "SCTID:205130008" "MEDGEN:609220" "GARD:21200" @@ -51587,13 +51587,6 @@ "ICD10:Q87.8" "OMIM:155145" "UMLS:C1835087" - "GARD:9330" - "MEDGEN:87544" - "UMLS:C0346180" - "SCTID:254869000" - "DOID:2155" - "NCIT:C4514" - "Orphanet:35807" "Wikipedia:Nasopharynx" "NCIT:C12423" "EMAPA:17670" @@ -51610,6 +51603,13 @@ "UMLS:C0027442" "MESH:D009305" "FMA:54878" + "GARD:9330" + "MEDGEN:87544" + "UMLS:C0346180" + "SCTID:254869000" + "DOID:2155" + "NCIT:C4514" + "Orphanet:35807" "UMLS:C1840311" "SNOMEDCT_US:232461002" "SNOMEDCT:416467009" @@ -51944,6 +51944,11 @@ "GARD:12452" "Orphanet:268337" "MEDGEN:1843095" + "UMLS:C5679591" + "DOID:0112312" + "MEDGEN:1826006" + "GARD:12502" + "Orphanet:171709" "PMID:33078253" "PMID:16781114" "PMID:16293235" @@ -51982,11 +51987,6 @@ "PMID:23369011" "PMID:8956233" "KNApSAcK:C00003008" - "UMLS:C5679591" - "DOID:0112312" - "MEDGEN:1826006" - "GARD:12502" - "Orphanet:171709" "OMIM:245100" "UMLS:C0796136" "Orphanet:1399" @@ -53063,8 +53063,8 @@ "MeSH:D058165" "UMLS:C0795907" "UMLS:C2936346" - "PMID:28453389" "DOID:3156" + "PMID:28453389" "OMIM:615182" "GARD:17540" "SCTID:713401006" @@ -53369,6 +53369,7 @@ "RRID:CVCL_0131" "BTO:0000016" "CLO:0001560" + "MedDRA:10019016" "UMLS:C1834569" "GARD:3875" "ICD9:345.10" @@ -53379,7 +53380,6 @@ "MESH:C537563" "SCTID:703524005" "DOID:0050032" - "MedDRA:10019016" "HMDB:0061051" "PMID:28417999" "PMID:35347128" @@ -53787,16 +53787,16 @@ "ICDO:8140/2" "MEDGEN:87203" "DOID:4943" + "Orphanet:96160" + "UMLS:C5190525" + "MEDGEN:1679764" + "GARD:19330" "GARD:10989" "MEDGEN:811623" "OMIM:615381" "UMLS:C3715192" "Orphanet:363649" "ZFA:0009256" - "Orphanet:96160" - "UMLS:C5190525" - "MEDGEN:1679764" - "GARD:19330" "MIAA:0000145" "BTO:0000630" "MeSH:D058506" @@ -53840,8 +53840,8 @@ "MEDGEN:48263" "Orphanet:79224" "DOID:653" - "MedDRA:10037546" "ICD9:277.2" + "MedDRA:10037546" "MESH:D011686" "UMLS:C0034139" "GARD:18980" @@ -53994,7 +53994,6 @@ "FMA:32521" "UMLS:C0224234" "AAO:0010716" - "PMID:34814699" "ICD9:276.2" "MedDRA:10000486" "MONDO:0006022" @@ -54005,6 +54004,7 @@ "NCIt:C83504" "SCTID:51387008" "MEDGEN:1296" + "PMID:34814699" "GARD:18404" "OMIM:617593" "MEDGEN:1621256" @@ -54768,6 +54768,7 @@ "MEDGEN:338875" "MESH:C565010" "CALOHA:TS-0732" + "FMA:18245" "EMAPA:35660" "Wikipedia:Fallopian_tube" "EV:0100112" @@ -54779,7 +54780,6 @@ "SCTID:181463001" "EHDAA2:0000504" "UMLS:C0015560" - "FMA:18245" "MEDGEN:1750188" "OMIM:619044" "DOID:0112109" @@ -54869,10 +54869,6 @@ "UMLS:C0268350" "MESH:C562627" "DOID:0070142" - "MEDGEN:1842971" - "UMLS:C5680036" - "Orphanet:399169" - "GARD:21659" "NCIT:C8971" "ONCOTREE:ERMS" "MedDRA:10065868" @@ -54890,6 +54886,10 @@ "MONDO:0009993" "GARD:4702" "UMLS:C0206656" + "MEDGEN:1842971" + "UMLS:C5680036" + "Orphanet:399169" + "GARD:21659" "ICD9:222.0" "MEDGEN:57576" "NCIT:C3612" @@ -55145,8 +55145,6 @@ "BTO:0003709" "RRID:CVCL_3791" "CLO:0008905" - "OMIM:611597" - "ICD10:Q12.0" "OMIM:616721" "OMIM:617395" "DOID:0050571" @@ -55159,6 +55157,8 @@ "OMIM:616829" "MESH:C535747" "MONDO:0005501" + "OMIM:611597" + "ICD10:Q12.0" "BTO:0002045" "NCIt:C12685" "SCTID:26682008" @@ -55468,7 +55468,6 @@ "RRID:CVCL_6910" "BTO:0002524" "PMID:29093028" - "PMID:35347128" "MESH:C567126" "UMLS:C2673642" "DOID:0111473" @@ -55477,6 +55476,7 @@ "SCTID:724279004" "GARD:16950" "OMIM:611719" + "PMID:35347128" "PMID:35668104" "MONDO:0016367" "NCIt:C26744" @@ -55613,7 +55613,6 @@ "Orphanet:99846" "MEDGEN:320384" "MESH:C563546" - "HMDB:0032740" "NCIT:C6542" "MEDGEN:272471" "DOID:6161" @@ -55622,6 +55621,7 @@ "UMLS:C0205650" "DOID:3172" "MEDGEN:59999" + "HMDB:0032740" "MEDGEN:52426" "ICD9:123.5" "MONDO:0005963" @@ -55860,10 +55860,6 @@ "UMLS:C1849069" "MEDGEN:341373" "PMID:28240269" - "OMIM:619057" - "DOID:0112137" - "MEDGEN:1757992" - "UMLS:C5436703" "MEDGEN:393265" "SCTID:716456000" "MESH:C567184" @@ -55873,6 +55869,10 @@ "GARD:11974" "DOID:0060419" "Orphanet:65286" + "OMIM:619057" + "DOID:0112137" + "MEDGEN:1757992" + "UMLS:C5436703" "ICDO:8585/3" "MONDO:0006458" "ICDO:8585/1" @@ -56150,7 +56150,6 @@ "MESH:C562626" "NIF_Subcellular:sao1881364067" "Wikipedia:Endoplasmic_reticulum#Rough_endoplasmic_reticulum" - "PMID:35347128" "PMID:30959515" "PMID:16708394" " CLO:0008750" @@ -56159,6 +56158,7 @@ "CLO:0008749" "SNOMEDCT_US:79890006" "UMLS:C0003123" + "PMID:35347128" "UMLS:C0016242" "SNOMEDCT_US:15013002" "UMLS:C1720491" @@ -56225,7 +56225,6 @@ "OMIM:612713" "ICD10:E77.8" "OMIM:612379" - "PMID:29875488" "Gmelin:279043" "PMID:22770225" "Reaxys:1723525" @@ -56234,7 +56233,7 @@ "Beilstein:1723525" "PMID:22264337" "Wikipedia:Asparagine" - "PMID:35347128" + "PMID:29875488" "OMIM:312170" "MEDGEN:326486" "Orphanet:79243" @@ -56243,6 +56242,7 @@ "GARD:4620" "MESH:C564071" "SCTID:124593001" + "PMID:35347128" "UMLS:C0018024" "SNOMEDCT:66392007" "MONDO:0006986" @@ -56540,6 +56540,10 @@ "Orphanet:98964" "OMIM:122200" "GARD:9678" + "DOID:5351" + "MEDGEN:275291" + "UMLS:C1518727" + "NCIT:C39986" "ICD10:E40" "MONDO:0006826" "DOID:13579" @@ -56552,10 +56556,6 @@ "SNOMEDCT:58262005" "MeSH:D007732" "MEDGEN:7233" - "DOID:5351" - "MEDGEN:275291" - "UMLS:C1518727" - "NCIT:C39986" "PMID:28924203" "MEDGEN:900126" "GARD:16640" @@ -56620,6 +56620,10 @@ "GARD:21764" "UMLS:C1710111" "Orphanet:423968" + "GARD:21368" + "UMLS:C5190606" + "MEDGEN:1684094" + "Orphanet:314041" "UMLS:C0009442" "EFO:1000876" "SCTID:126857009" @@ -56627,10 +56631,6 @@ "MONDO:0006709" "MESH:D003138" "MEDGEN:3178" - "GARD:21368" - "UMLS:C5190606" - "MEDGEN:1684094" - "Orphanet:314041" "SNOMEDCT:3676004" "PMID:30368896" "MONDO:0015529" @@ -56899,6 +56899,8 @@ "SCTID:54411001" "OMIM:175200" "CMO:0000374" + "MeSH:D001809" + "SNOMEDCT:85015001" "MA:0000073" "GAID:555" "SCTID:261405004" @@ -56920,8 +56922,6 @@ "EHDAA:1265" "NCIT:C12728" "CALOHA:TS-0437" - "MeSH:D001809" - "SNOMEDCT:85015001" "EC:1.1.1.153" "MetaCyc:SEPIAPTERIN-REDUCTASE-RXN" "Reactome:R-HSA-1475414" @@ -57403,6 +57403,13 @@ "ICDO:9371/3" "EFO:1000174" "PMID:29875488" + "DOID:13582" + "MedDRA:10036445" + "MESH:D011191" + "MeSH:D011191" + "MEDGEN:10874" + "MONDO:0006919" + "UMLS:C0032827" "DOID:5142" "MEDGEN:274417" "NCIT:C40326" @@ -57413,13 +57420,6 @@ "SCTID:268232000" "MEDGEN:609099" "UMLS:C0431692" - "DOID:13582" - "MedDRA:10036445" - "MESH:D011191" - "MeSH:D011191" - "MEDGEN:10874" - "MONDO:0006919" - "UMLS:C0032827" "NCIt:C4016" "CSP:2019-1041" "MEDGEN:79002" @@ -57454,11 +57454,11 @@ "OMIM:612968" "ICD10:Q12.0" "OMIM:605387" + "PMID:24816252" "MESH:C563624" "OMIM:151620" "UMLS:C1835402" "MEDGEN:372036" - "PMID:24816252" "PMID:27060140" "MEDGEN:371361" "UMLS:C1832586" @@ -57656,6 +57656,7 @@ "OMIM:616052" "ICD10:G71.0" "OMIM:617232" + "PMID:29875488" "CAS:124-38-9" "PMID:19259576" "PMID:8482095" @@ -57694,7 +57695,6 @@ "PMID:9730350" "Beilstein:1900390" "KEGG:D00004" - "PMID:29875488" "PMID:27184079" "UMLS:C1865038" "OMIM:601707" @@ -57740,22 +57740,22 @@ "DOID:0070454" "OMIM:620323" "PMID:26068415" - "DOID:6162" - "MEDGEN:272470" - "NCIT:C6545" - "UMLS:C1333007" "SNOMEDCT:70106000" "NCIt:C616" "KEGG:C01356" "MeSH:D008055" + "DOID:6162" + "MEDGEN:272470" + "NCIT:C6545" + "UMLS:C1333007" "GARD:21055" "UMLS:C5679778" "Orphanet:276585" "MEDGEN:1842507" "NCIT:C40112" "DOID:3173" - "MEDGEN:275874" "UMLS:C1517123" + "MEDGEN:275874" "ChEMBL:646764" "Reaxys:5198936" "MONDO:0005964" @@ -57818,17 +57818,6 @@ "ICD10:Q87.8" "PMID:29875488" "MO:996" - "SCTID:49130001" - "ICD9:380" - "ICD9:744.47" - "ICD10CM:H60-H62" - "DOID:379" - "ICD9:380.9" - "MEDGEN:57606" - "ICD10:H61" - "UMLS:C0155388" - "MONDO:0002776" - "NCIT:C26972" "MeSH:D012816" "NCIt:C100104" "NCIt:C3367" @@ -57841,6 +57830,17 @@ "MEDGEN:138041" "NCIT:C4060" "ICD9:620.2" + "SCTID:49130001" + "ICD9:380" + "ICD9:744.47" + "ICD10CM:H60-H62" + "DOID:379" + "ICD9:380.9" + "MEDGEN:57606" + "ICD10:H61" + "UMLS:C0155388" + "MONDO:0002776" + "NCIT:C26972" "UMLS:C3554724" "NCIt:C34569" "MESH:D004604" @@ -58012,6 +58012,8 @@ "EFO:1000584" "NCIt:C43531" "MO:878" + "MONDO:0005255" + "Wikipedia:New_York_Heart_Association_Functional_Classification" "GARD:18297" "SCTID:720576001" "Orphanet:178506" @@ -58019,8 +58021,6 @@ "OMIM:618007" "OMIM:613658" "MEDGEN:1750003" - "MONDO:0005255" - "Wikipedia:New_York_Heart_Association_Functional_Classification" "SCTID:187732006" "DOID:10548" "MEDGEN:509280" @@ -58174,9 +58174,6 @@ "GARD:18981" "Orphanet:79226" "MEDGEN:1842986" - "MEDGEN:233147" - "UMLS:C1334571" - "NCIT:C6758" "NCIT:C85002" "MEDGEN:10617" "MESH:D010381" @@ -58189,6 +58186,9 @@ "OMIM:169400" "NCIt:C85002" "MedDRA:10029377" + "MEDGEN:233147" + "UMLS:C1334571" + "NCIT:C6758" "GARD:4769" "UMLS:C4551860" "NCIT:C123438" @@ -58283,12 +58283,12 @@ "NCIT:C6906" "DOID:2129" "PMID:35347128" + "SCTID:735082004" + "NCIT:C7752" "BTO:0000358" " CLO:0007595" "RRID:CVCL_0444" "CLO:0007594" - "SCTID:735082004" - "NCIT:C7752" "PMID:24373199" "UMLS:C4330050" "NCIT:C132505" @@ -58377,12 +58377,12 @@ "Orphanet:320396" "SNOMEDCT:35805009" "MeSH:D001236" - "OMIM:165200" - "OMIM:500001" - "ICD10:H47.2" "ICD10:D69.1" "NIFSTD:birnlex_934" "NCIt:C52713" + "OMIM:165200" + "OMIM:500001" + "ICD10:H47.2" "OMIM:607539" "MEDGEN:375276" "UMLS:C1843758" @@ -58950,13 +58950,13 @@ "PMID:24816252" "RRID:CVCL_1100" "CLO:0050930" - "CLO:0002201" "ATCC:CRL-1550" + "CLO:0002201" "CLO:0002165" "BTO:0003109" "UMLS:C1837108" - "PMID:28878392" "PMID:29875488" + "PMID:28878392" "PMID:35347128" "VHOG:0000286" "UMLS:C0042066" @@ -59002,6 +59002,11 @@ "OMIMPS:109730" "DOID:0080332" "MEDGEN:1670287" + "GARD:15918" + "OMIM:615214" + "MEDGEN:767603" + "UMLS:C3554689" + "DOID:0081139" "XAO:0003193" "ZFA:0000009" "FMA:7100" @@ -59024,11 +59029,6 @@ "AAO:0010249" "MAT:0000497" "Wikipedia:Ventricle_(heart)" - "GARD:15918" - "OMIM:615214" - "MEDGEN:767603" - "UMLS:C3554689" - "DOID:0081139" "MedDRA:10027308" "ICD10:N95" "NCIt:C3231" @@ -59292,11 +59292,11 @@ "OMIM:101850" "UMLS:C0545044" "HMDB:0037285" - "PMID:35347128" "GARD:18537" "OMIM:619125" "UMLS:C5436856" "MEDGEN:1725501" + "PMID:35347128" "HMDB:0035701" "RRID:CVCL_D755" "MESH:D005926" @@ -59484,6 +59484,8 @@ "MEDGEN:61565" "NANDO:1200948" "MESH:D017825" + "ICD10:Q93.5" + "OMIM:613457" "NCIT:C4375" "NANDO:2200399" "SCTID:42681006" @@ -59498,8 +59500,6 @@ "UMLS:C1864903" "MONDO:0005803" "HP:0000825" - "ICD10:Q93.5" - "OMIM:613457" "SCTID:717332007" "OMIM:601238" "Orphanet:94122" @@ -60359,16 +60359,16 @@ "GARD:7245" "UMLS:C0270952" "Orphanet:270" + "OMIM:253590" + "UMLS:C1854646" + "MESH:C565361" + "MEDGEN:340269" "MeSH:D018176" "MEDGEN:104897" "MESH:D018176" "UMLS:C0206607" "DOID:4088" "MONDO:0005986" - "OMIM:253590" - "UMLS:C1854646" - "MESH:C565361" - "MEDGEN:340269" "OMIM:136550" "GARD:9179" "UMLS:C0730294" @@ -60854,6 +60854,12 @@ "MEDGEN:1843430" "UMLS:C5704669" "Orphanet:226310" + "CALOHA:TS-2106" + "FMA:14969" + "UMLS:C0734203" + "NCIT:C32926" + "MA:0002688" + "EMAPA:35467" "DOID:2731" "Wikipedia:Vesiculobullous_disease" "MEDGEN:20778" @@ -60861,12 +60867,6 @@ "MeSH:D012872" "MONDO:0006617" "MESH:D012872" - "CALOHA:TS-2106" - "FMA:14969" - "UMLS:C0734203" - "NCIT:C32926" - "MA:0002688" - "EMAPA:35467" "MESH:D007713" "ICD9:758.81" "MEDGEN:75573" @@ -60957,10 +60957,10 @@ "NANDO:2200749" "GARD:4085" "MEDGEN:388129" - "PMID:29875488" "BTO:0000231" - "PMID:35347128" "PMID:28878392" + "PMID:29875488" + "PMID:35347128" "SNOMEDCT:430749000" "NCIt:C102259" "Orphanet:99413" @@ -61244,6 +61244,9 @@ "ICD10CM:D53.0" "Orphanet:98415" "MEDGEN:1842832" + "ICD10:Q93.5" + "MeSH:C538316" + "UMLS:C2931816" "PMID:29875488" "DOID:3187" "NCIT:C9377" @@ -61253,15 +61256,12 @@ "RRID:CVCL_3712" "CLO:0003772" "Orphanet:95161" - "ICD10:Q93.5" - "MeSH:C538316" - "UMLS:C2931816" + "PMID:33283231" "ICD10:K10" "NCIT:C66758" "UMLS:C0206738" "MEDGEN:60220" "SCTID:253038006" - "PMID:33283231" "MESH:D064419" "PMID:29875488" "PMID:24816252" @@ -61377,7 +61377,6 @@ "icd11.foundation:1411011731" "SCTID:128206006" "Orphanet:64752" - "PMID:34814699" "UMLS:C0014804" "MESH:D004916" "ICD9:443.82" @@ -61388,6 +61387,7 @@ "SCTID:37151006" "Orphanet:1956" "MedDRA:10015284" + "PMID:34814699" "TAO:0001249" "MA:0002415" "Wikipedia:Exocrine_component_of_pancreas" @@ -61605,6 +61605,9 @@ "Orphanet:209196" "MEDGEN:1842345" "GARD:20437" + "UMLS:C0265260" + "OMIM:200700" + "ICD10:Q78.8" "FMA:9906" "EV:0100374" "ZFA:0000142" @@ -61615,9 +61618,6 @@ "BTO:0001832" "MAT:0000100" "EHDAA:3769" - "UMLS:C0265260" - "OMIM:200700" - "ICD10:Q78.8" "PMID:29875488" "Orphanet:79179" "GARD:18958" @@ -61948,7 +61948,6 @@ "OMIM:617690" "OMIM:616185" "UMLS:C0685837" - "ZFS:0000029" "GARD:21647" "NCIT:C99236" "MEDGEN:98372" @@ -61961,6 +61960,7 @@ "NORD:1495" "MONDO:0018360" "NCIt:C99236" + "ZFS:0000029" "MedDRA:10021184" "MESH:D015212" "OMIM:618077" @@ -62362,20 +62362,11 @@ "UMLS:C0154040" "MEDGEN:56330" "NCIT:C3629" + "OMIM:192315" "UMLS:C3809874" "OMIM:615545" "MEDGEN:816204" - "OMIM:192315" "https://catalog.coriell.org" - "Orphanet:98963" - "MESH:C535474" - "DOID:0060444" - "OMIM:607541" - "SCTID:397568004" - "UMLS:C1275685" - "MEDGEN:220900" - "ICD9:371.56" - "GARD:9278" "SNOMEDCT:387390002" "NCIt:C29974" "SNOMEDCT:70379000" @@ -62392,6 +62383,15 @@ "MetaCyc:NACL" "Reaxys:3534976" "PPDB:595" + "Orphanet:98963" + "MESH:C535474" + "DOID:0060444" + "OMIM:607541" + "SCTID:397568004" + "UMLS:C1275685" + "MEDGEN:220900" + "ICD9:371.56" + "GARD:9278" "PMID:35347128" "MeSH:D017285" "Wikipedia:Polymyositis" @@ -62647,8 +62647,8 @@ "UMLS:C4287868" "NCIT:C8384" "MEDGEN:925400" - "PMID:35347128" "PMID:24816252" + "PMID:35347128" "Orphanet:28" "GARD:12623" "MEDGEN:575193" @@ -62708,12 +62708,12 @@ "NCIT:C13074" "EMAPA:25135" "PMID:29875488" - "Orphanet:206970" "GARD:20372" "MEDGEN:107510" "MESH:D020967" "MedDRA:10028658" "UMLS:C0553604" + "Orphanet:206970" "UMLS:C1837014" "OMIM:607554" "MESH:C563817" @@ -62806,6 +62806,7 @@ "icd11.foundation:830907514" "MEDGEN:1842651" "UMLS:C5681090" + "MONDO:0006026" "ICD9:596.9" "NCIt:C2900" "MEDGEN:2278" @@ -62816,7 +62817,6 @@ "ICD9:596.8" "NCIT:C2900" "SCTID:42643001" - "MONDO:0006026" "MeSH:D006958" "OMIM:114000" "DOID:4257" @@ -62857,9 +62857,9 @@ "NCIT:C27093" "Medgen:CN239479" "PMID:29875488" + "PMID:29875488" "PMID:33634981" "RRID:CVCL_2206" - "PMID:29875488" "UMLS:C4747658" "MEDGEN:1662086" "UMLS:C4747517" @@ -62936,10 +62936,10 @@ "MEDGEN:468529" "UMLS:C1300227" "PMID:26068415" - "ICD10:H47.2" "KEGG COMPOUND:C17996" - "PMID:31991592" "PMID:25713168" + "ICD10:H47.2" + "PMID:31991592" "PMID:35347128" "DOID:10326" "UMLS:C0006915" @@ -62949,6 +62949,7 @@ "MESH:D002205" "SCTID:398640008" "MedDRA:10065917" + "PMID:29875488" "EV:0200009" "ncithesaurus:Beta_Cell" "Wikipedia:Pancreatic_b_cell" @@ -62959,7 +62960,6 @@ "BTO:0000783" "FMA:70586" "NCIt:C32199" - "PMID:29875488" "UMLS:C0031117" "SNOMEDCT_US:42658009" "SNOMEDCT_US:302226006" @@ -63007,12 +63007,12 @@ "UMLS:C0032231" "PMID:31189108" "BFO:0000020" - "UMLS:C0268251" - "OMIM:231000" - "ICD10:E75.2" "SNOMEDCT:255561001" "NCIt:C25232" "MAT:0000490" + "UMLS:C0268251" + "OMIM:231000" + "ICD10:E75.2" "PMID:29875488" "PMID:29875488" "KNApSAcK:C00000853" @@ -63788,13 +63788,13 @@ "OMIM:156700" "MeSH:C537552" "ICD10:Q15.8" - "PMID:29875488" "Orphanet:2215" "MESH:C565679" "UMLS:C1857576" "OMIM:217150" "MEDGEN:347490" "GARD:3361" + "PMID:29875488" "MeSH:D016974" "SNOMEDCT:430612001" "SNOMEDCT:421225004" @@ -64162,9 +64162,9 @@ "Orphanet:98631" "OMIM:270750" "ICD10:G11.4" + "ICD10:Q82.8" "PMID:34814699" "PMID:28240269" - "ICD10:Q82.8" "UMLS:C4274968" "GARD:17129" "Orphanet:217656" @@ -64249,8 +64249,8 @@ "DOID:0070492" "OMIM:619046" "MONDO:0006462" - "UMLS:C1336749" "NCIT:C6046" + "UMLS:C1336749" "MEDGEN:234429" "EFO:1000587" "UMLS:C0346017" @@ -64258,10 +64258,6 @@ "SCTID:254711000" "DOID:4871" "MEDGEN:91071" - "OMIM:608812" - "UMLS:C1837315" - "MEDGEN:324734" - "FBbt:00005610" "ICD10:S75" "ICD10:T13" "ICD10:S80" @@ -64274,6 +64270,10 @@ "MedDRA:10054965" "ICD10:S84" "ICD10:S79" + "OMIM:608812" + "UMLS:C1837315" + "MEDGEN:324734" + "FBbt:00005610" "UMLS:C0524662" "MESH:D009293" "MONDO:0005530" @@ -64404,6 +64404,7 @@ "NCIT:C12833" "UMLS:C0149603" "ICD10:E85.0" + "NCIt:C6890" "MESH:C567466" "Orphanet:163937" "UMLS:C2677903" @@ -64411,7 +64412,6 @@ "MEDGEN:437070" "DOID:0060807" "OMIM:300749" - "NCIt:C6890" "MESH:D017074" "MedDRA:10021449" "NCIT:C26725" @@ -64463,10 +64463,10 @@ "UMLS:C5444223" "OMIM:619345" "PMID:24816252" - "FMA:45658" "NCIT:C61107" "galen:UpperUrinaryTract" "SCTID:181413006" + "FMA:45658" "NCIt:C944" "SNOMEDCT:87708000" "Wikipedia:Vitamin" @@ -64563,8 +64563,8 @@ "Orphanet:52056" "MEDGEN:324890" "SCTID:719843001" - "Orphanet:98718" "UMLS:C1859391" + "Orphanet:98718" "CSP:2049-9000" "DOID:0060054" "NCIT:C27033" @@ -64642,6 +64642,7 @@ "DOID:0080539" "GARD:4264" "UMLS:C1850055" + "PMID:35773277" "MEDGEN:266040" "ICD10:C96.4" "MESH:D054739" @@ -64655,7 +64656,6 @@ "EFO:0007329" "MONDO:0005813" "UMLS:C1260326" - "PMID:35773277" "PMID:22043864" "DOID:5534" "NCIT:C7732" @@ -64905,12 +64905,12 @@ "Orphanet:238468" "HP:0007607" "ICD10:E85.1" - "NCIt:C27273" - "MeSH:D057091" "MEDGEN:766782" "UMLS:C3553868" "OMIM:614849" "NCIt:C4051" + "NCIt:C27273" + "MeSH:D057091" "SCTID:715820004" "MEDGEN:900624" "UMLS:C4274992" @@ -64982,7 +64982,6 @@ "NCIt:C125664" "MONDO:0000675" "PMID:24816252" - "PMID:25695952" "OMIM:607323" "Orphanet:959" "Orphanet:93293" @@ -64993,6 +64992,7 @@ "DOID:0060747" "MEDGEN:301647" "SCTID:720415006" + "PMID:25695952" "SCTID:450956008" "MEDGEN:396324" "GARD:22348" @@ -65044,6 +65044,7 @@ "GARD:17855" "OMIM:618564" "PMID:29875488" + "PMID:24816252" "MedDRA:10018209" "MEDGEN:38815" "UMLS:C0085207" @@ -65055,7 +65056,6 @@ "SCTID:11687002" "NCIt:C34942" "SNOMEDCT:11687002" - "PMID:24816252" "UM-BBD_pathwayID:tyr" "Wikipedia:Tyrosine" "GOC:mah" @@ -65896,6 +65896,9 @@ "OMIM:213002" "MeSH:C535353" "ICD10:Q87.8" + "UMLS:C0413235" + "SCTID:241954008" + "MEDGEN:595022" "NORD:877" "ICD9:023.9" "SCTID:75702008" @@ -65913,9 +65916,6 @@ "MESH:D002006" "MedDRA:10006501" "GARD:5966" - "UMLS:C0413235" - "SCTID:241954008" - "MEDGEN:595022" "MeSH:D008078" "SNOMEDCT:102739008" "MeSH:D008077" @@ -66350,6 +66350,10 @@ "EMAPA:16640" "Wikipedia:Prosencephalon" "EHDAA:2643" + "UMLS:C2936859" + "ICD10:Q87.8" + "MeSH:C536108" + "OMIM:310465" "PMID:22177955" "PMID:22174792" "CAS:74772-77-3" @@ -66392,10 +66396,6 @@ "PMID:21354099" "SNOMEDCT:63369000" "FMA:84198" - "UMLS:C2936859" - "ICD10:Q87.8" - "MeSH:C536108" - "OMIM:310465" "OMIM:607584" "ICD10:G11.4" "PMID:35347128" @@ -66979,6 +66979,7 @@ "GARD:19683" "MEDGEN:1672480" "PMID:26068415" + "SNOMEDCT:363888004" "MO:60" "MeSH:D008027" "NCIt:C64650" @@ -66991,7 +66992,6 @@ "DOID:5547" "MEDGEN:233371" "NCIT:C5381" - "SNOMEDCT:363888004" "NORD:913" "MEDGEN:1762238" "Orphanet:1466" @@ -67227,6 +67227,9 @@ "UMLS:C0002447" "MedDRA:10001926" "ICD10:Q73.0" + "OMIM:614850" + "UMLS:C3553869" + "MEDGEN:766783" "ICDO:9702/3" "GARD:21252" "MONDO:0017603" @@ -67236,9 +67239,6 @@ "UMLS:C1332078" "ICD10:C84.7" "MEDGEN:272266" - "OMIM:614850" - "UMLS:C3553869" - "MEDGEN:766783" "ICD9:117.9" "DOID:0050133" "MEDGEN:755998" @@ -67349,8 +67349,8 @@ "GAID:381" "MA:0000394" "VHOG:0001138" - "EFO:0000976" "EMAPA:18986" + "EFO:0000976" "EV:0100117" "MIAA:0000128" "NCIT:C12407" @@ -67709,13 +67709,13 @@ "GARD:5133" "OMIM:172850" "MEDGEN:358177" - "PMID:32641083" "GARD:21507" "Orphanet:330206" "UMLS:C0861859" "DOID:3494" "MEDGEN:163667" "NCIT:C5776" + "PMID:32641083" "ZFA:0001405" "MESH:D005235" "ICD9:571.0" @@ -67990,13 +67990,13 @@ "UMLS:C1848490" "SNOMEDCT_US:18265008" "UMLS:C0015300" + "ICD10:Q56.1" "GARD:19871" "Orphanet:109009" "UMLS:C1840375" "FBbt:00001102" "MAT:0000339" "BTO:0002328" - "ICD10:Q56.1" "PMID:2846049" "PMID:29402945" "PMID:7247372" @@ -68533,9 +68533,9 @@ "NCIt:C3372" "Orphanet:399994" "GARD:21687" + "SNOMEDCT:16208003" "PMID:29875488" "PMID:31046077" - "SNOMEDCT:16208003" "UMLS:C0496874" "NCIT:C8612" "DOID:0060117" @@ -68734,8 +68734,6 @@ "SNOMEDCT:76479006" "OMIM:278760" "ICD10:Q82.1" - "PMID:37164013" - "Orphanet:98910" "DOID:11339" "ICD9:136.3" "ICD10CM:B59" @@ -68757,6 +68755,8 @@ "SCTID:239112008" "MedDRA:10014985" "Orphanet:35125" + "PMID:37164013" + "Orphanet:98910" "ICD9:402.9" "MEDGEN:508889" "SCTID:64715009" @@ -69257,8 +69257,8 @@ "NCIT:C32486" "MA:0001586" "GAID:939" - "BTO:0005115" "SCTID:181238004" + "BTO:0005115" "FMA:59908" "MESH:D018987" "GARD:16794" @@ -69606,6 +69606,7 @@ "MEDGEN:6217" "Orphanet:511" "OMIMPS:248600" + "MetaCyc:CPD-7689" "EFO:0001670" "MA:0002877" "Wikipedia:Lymph_node#Lymph_nodes_of_the_thorax" @@ -69614,7 +69615,6 @@ "EMAPA:35555" "SCTID:181760002" "FMA:12774" - "MetaCyc:CPD-7689" "MEDGEN:815361" "OMIM:615285" "DOID:0112132" @@ -69684,8 +69684,8 @@ "CALOHA:TS-2385" "UMLS:C0222613" "SCTID:361719004" - "NCIT:C32910" "MA:0000791" + "NCIT:C32910" "EMAPA:35538" "BTO:0002845" "Wikipedia:Lactiferous_duct" @@ -70019,20 +70019,15 @@ "Orphanet:481986" "UMLS:C2931870" "PMID:35347128" + "MONDO:0005143" "GARD:10333" "MedDRA:10040655" "SCTID:127041004" "NCIT:C95539" "MedDRA:10055579" "Orphanet:251359" - "MONDO:0005143" "PMID:24816252" "PMID:29875488" - "OMIM:500010" - "OMIM:607459" - "MeSH:C537583" - "UMLS:C1843851" - "ICD10:G71.3" "GARD:15748" "UMLS:C3279695" "MEDGEN:481325" @@ -70057,6 +70052,11 @@ "NCIT:C12460" "TAO:0001353" "SCTID:362394008" + "OMIM:500010" + "OMIM:607459" + "MeSH:C537583" + "UMLS:C1843851" + "ICD10:G71.3" "RRID:CVCL_0104" "BTO:0004765" "SCTID:315345002" @@ -70098,8 +70098,8 @@ "PMID:17031012" "PMID:19389964" "PMID:33197771" - "PDBeChem:VIV" "PMID:21591326" + "PDBeChem:VIV" "PMID:17310859" "PMID:11427352" "DrugBank:DB00163" @@ -70111,9 +70111,6 @@ "PMID:12899840" "Beilstein:5300493" "MeSH:D014810" - "OMIM:617743" - "OMIM:616780" - "ICD10:N97.8" "SCTID:46871008" "MESH:D014646" "UMLS:C0042341" @@ -70121,6 +70118,9 @@ "ICD10CM:I86.1" "MEDGEN:22619" "ICD9:456.4" + "OMIM:617743" + "OMIM:616780" + "ICD10:N97.8" "SNOMEDCT:72567007" "MeSH:D050643" "SCTID:765191009" @@ -70153,8 +70153,6 @@ "OMIM:551500" "ICD10:G31.8" "UMLS:C1328349" - "SCTID:272668006" - "NCIT:C61360" "NCIT:C3229" "MEDGEN:44353" "Orphanet:252025" @@ -70169,6 +70167,8 @@ "MONDO:0016743" "NCIt:C3229" "SNOMEDCT:409659004" + "SCTID:272668006" + "NCIT:C61360" "UMLS:C5543621" "OMIM:619406" "MEDGEN:1785163" @@ -70270,7 +70270,6 @@ "ICD10:G73.1" "MedDRA:10067685" "UMLS:C0022972" - "PMID:35050183" "PMID:24816252" "PMID:37057071" "NANDO:1200225" @@ -70308,6 +70307,7 @@ "SCTID:235917005" "DOID:14268" "MONDO:0018646" + "PMID:35050183" "PMID:20495556" "MO:791" "SNOMEDCT:246508008" @@ -70477,8 +70477,8 @@ "EFO:1001000" "MEDGEN:60197" "ONCOTREE:PAOS" - "Wikipedia:Stress-related_disorders" "SNOMEDCT:437787005" + "Wikipedia:Stress-related_disorders" "PMID:22609625" "SCTID:718679004" "UMLS:C3150946" @@ -70486,8 +70486,8 @@ "OMIM:613689" "MEDGEN:462296" "GARD:17180" - "PMID:33907307" "FBbt:00005519" + "PMID:33907307" "PMID:23823483" "OMIM:260540" "ICD10:G23.1" @@ -70742,7 +70742,7 @@ "MeSH:C536862" "ICD10:G11.4" "PMID:29875488" - "DOID:0080777" + "UMLS:C1836843" "EFO:1000336" "NCIT:C45540" "ICD9:162.9" @@ -70751,7 +70751,7 @@ "UMLS:C1708781" "MONDO:0006279" "SCTID:707460002" - "UMLS:C1836843" + "DOID:0080777" "SCTID:38993008" "OMIM:190320" "MESH:C536549" @@ -70789,8 +70789,8 @@ "GARD:19218" "Orphanet:93547" "MeSH:D007627" - "NCIt:C3145" "MEDGEN:7197" + "NCIt:C3145" "MedDRA:10023329" "ICD9:701.4" "MONDO:0005348" @@ -70887,8 +70887,8 @@ "UMLS:C0276226" "BTO:0001250" "MEDGEN:56315" - "SCTID:127004000" "UMLS:C0153627" + "SCTID:127004000" "NCIT:C3563" "ICD9:239.89" "DOID:294" @@ -71004,11 +71004,11 @@ "SNOMEDCT:356624006" "NCIt:C48154" "ICD10:E66.8" - "Orphanet:98914" "SNOMEDCT_US:190882007" "UMLS:C0347959" "UMLS:C0001125" "SNOMEDCT_US:91273001" + "Orphanet:98914" "MEDGEN:234943" "DOID:4062" "UMLS:C1336727" @@ -71025,9 +71025,9 @@ "SCTID:38907003" "MEDGEN:2995" "MeSH:D002644" + "MedDRA:10008505" "ICD9:052.9" "MESH:D002644" - "MedDRA:10008505" "NCIT:C97132" "ICD10:B01" "DOID:8659" @@ -71498,6 +71498,9 @@ "UMLS:C2931761" "MeSH:C538180" "MeSH:C538277" + "OMIM:619522" + "MEDGEN:1794194" + "UMLS:C5561984" "ICD9:757.39" "ICD10CM:Q82.2" "MESH:D001816" @@ -71512,9 +71515,6 @@ "NANDO:1200333" "NORD:863" "UMLS:C0005859" - "OMIM:619522" - "MEDGEN:1794194" - "UMLS:C5561984" "PMID:29875488" "SNOMEDCT_US:430099007" "UMLS:C1837658" @@ -71654,10 +71654,6 @@ "ICD10:J90" "RRID:CVCL_M912" "PMID:7433105" - "UMLS:C0265235" - "OMIM:154780" - "MeSH:C536025" - "ICD10:Q87.0" "TGMA:0000005" "MAT:0000297" "BTO:0000420" @@ -71669,10 +71665,14 @@ "OMIM:619184" "MEDGEN:1782253" "DOID:0112358" - "NIFSTD:birnlex_577" + "UMLS:C0265235" + "OMIM:154780" + "MeSH:C536025" + "ICD10:Q87.0" "MEDGEN:1824055" "OMIM:620185" "UMLS:C5774282" + "NIFSTD:birnlex_577" "MedDRA:10071719" "NORD:1768" "ICD9:759.89" @@ -72820,13 +72820,13 @@ "NCIT:C3328" "MedDRA:10020907" "HP:0002149" - "PMID:24816252" "GARD:15490" "SCTID:609581006" "UMLS:C1864623" "MESH:C566432" "OMIM:610582" "MEDGEN:351177" + "PMID:24816252" "CALOHA:TS-2080" "BTO:0004685" "AAO:0011078" @@ -73011,11 +73011,11 @@ "Wikipedia:Docosapentaenoic_acid" "PMID:17547694" "NCIt:C68347" - "PMID:23823483" "DOID:6903" "NCIT:C35690" "MEDGEN:1788822" "UMLS:C0730306" + "PMID:23823483" "ICD10:Q93.5" "SNOMEDCT:21327008" "UMLS:C4280642" @@ -73095,8 +73095,8 @@ "SCTID:205260006" "MEDGEN:673840" "UMLS:C0687154" - "RRID:CVCL_6284" "PMID:33634981" + "RRID:CVCL_6284" "MEDGEN:525" "ICD9:211.3" "UMLS:C0004991" @@ -73196,13 +73196,13 @@ "MedDRA:10008095" "MONDO:0006694" "MedDRA:1008095" - "PMID:33634981" "GARD:16682" "MESH:C566278" "Orphanet:69125" "UMLS:C1862844" "OMIM:106750" "MEDGEN:400144" + "PMID:33634981" "PMID:35347128" "NCIT:C114666" "SCTID:87696004" @@ -73594,8 +73594,8 @@ "UMLS:C0006271" "DOID:2942" "PMID:30098192" - "PMID:29875488" "PMID:23823483" + "PMID:29875488" "DOID:5977" "ICD9:239.5" "MEDGEN:138049" @@ -73664,10 +73664,6 @@ "GO:0005623\n" "KUPO:0000002" "UMLS:C0854107" - "OMIM:602535" - "ICD10:Q87.3" - "MeSH:C536026" - "UMLS:C0265211" "RRID:CVCL_R864" "OMIM:617393" "UMLS:C4479333" @@ -73678,6 +73674,10 @@ "MEDGEN:1668494" "UMLS:C4749400" "GARD:21789" + "OMIM:602535" + "ICD10:Q87.3" + "MeSH:C536026" + "UMLS:C0265211" "SCTID:59393003" "Orphanet:387" "ICD10CM:L73.2" @@ -73725,10 +73725,10 @@ "OMIM:220210" "PMID:34610981" "PMID:35697867" - "PMID:33594131" "UMLS:C5562043" "MEDGEN:1794253" "OMIM:619658" + "PMID:33594131" "PMID:35347128" "SNOMEDCT:37188009" "GARD:18534" @@ -73737,8 +73737,8 @@ "OMIM:619091" "PMID:29293525" "PMID:29875488" - "PMID:28240269" "PMID:29875488" + "PMID:28240269" "Orphanet:294996" "OMIM:620029" "MEDGEN:1823986" @@ -74321,6 +74321,9 @@ "MedDRA:10038262" "MeSH:D005764" "NCIT:C26781" + "UMLS:C2751683" + "MeSH:C538119" + "ICD10:Q43.1" "GARD:369" "OMIM:303110" "MESH:C537793" @@ -74329,16 +74332,13 @@ "SCTID:717761005" "MEDGEN:763933" "NCIt:C753" - "UMLS:C2751683" - "MeSH:C538119" - "ICD10:Q43.1" + "SNOMEDCT:443157008" + "NCIt:C96414" + "UMLS:C2732618" "UMLS:C0020595" "SNOMEDCT_US:60086000" "UMLS:C1846226" "UMLS:C0857899" - "SNOMEDCT:443157008" - "NCIt:C96414" - "UMLS:C2732618" "Orphanet:183592" "UMLS:C5680544" "GARD:20306" @@ -74464,6 +74464,10 @@ "UMLS:C0267390" "SCTID:52506002" "ICD9:556.3" + "NCIt:C3747" + "DOID:4265" + "SNOMEDCT:86959002" + "MeSH:D018229" "MESH:C563794" "DOID:0110306" "GARD:12531" @@ -74472,10 +74476,6 @@ "Orphanet:55596" "SCTID:719990003" "MEDGEN:322993" - "NCIt:C3747" - "DOID:4265" - "SNOMEDCT:86959002" - "MeSH:D018229" "PMID:33937362" "DOID:2050" "UMLS:C0155804" @@ -74755,9 +74755,6 @@ "UMLS:C3554366" "Orphanet:329258" "SNOMEDCT:445561006" - "UMLS:C4225418" - "MEDGEN:895979" - "OMIM:300966" "KEGG:D00340" "CAS:58-93-5" "PMID:24657333" @@ -74775,6 +74772,9 @@ "UMLS:C0035304" "SNOMEDCT_US:95695004" "SNOMEDCT_US:405722004" + "UMLS:C4225418" + "MEDGEN:895979" + "OMIM:300966" "UMLS:C0338614" "MedDRA:10009018" "icd11.foundation:2073226578" @@ -74868,6 +74868,7 @@ "ICD9:277.86" "DOID:906" "ICD9:277.89" + "PMID:24816252" "Reaxys:3903069" "CAS:7784-34-1" "NIST Chemistry WebBook:7784-34-1" @@ -74893,7 +74894,6 @@ "Orphanet:417" "OMIM:239200" "GARD:2838" - "PMID:24816252" "OMIM:618912" "DOID:0081427" "UMLS:C5394466" @@ -74913,23 +74913,12 @@ "MeSH:D004831" "OMIM:618074" "OMIM:618075" + "UMLS:CN207246" + "Orphanet:98990" "EFO:0006388" "MONDO:0005597" "PMID:3739121" - "UMLS:CN207246" - "Orphanet:98990" "Wikipedia:Carbonic_anhydrase_II" - "NCIT:C4375" - "MEDGEN:293643" - "UMLS:C1578917" - "OMIM:147630" - "SCTID:274944000" - "MESH:C563258" - "MEDGEN:313444" - "UMLS:C1709053" - "DOID:4065" - "ICDO:8902/3" - "NCIT:C4259" "NCIt:C26849" "ICD9:567.8" "NCIT:C26849" @@ -74946,6 +74935,17 @@ "ICD10:K65" "UMLS:C0031154" "MEDGEN:14697" + "NCIT:C4375" + "MEDGEN:293643" + "UMLS:C1578917" + "OMIM:147630" + "SCTID:274944000" + "MESH:C563258" + "MEDGEN:313444" + "UMLS:C1709053" + "DOID:4065" + "ICDO:8902/3" + "NCIT:C4259" "UMLS:C4021822" "MAT:0000152" "FBbt:00005177" @@ -74985,6 +74985,12 @@ "MEDGEN:90228" "ICD10:E75.2" "OMIM:609136" + "UMLS:C1840452" + "OMIM:143200" + "MedDRA:10063383" + "ICD10:H35.5" + "UMLS:C0339540" + "MeSH:C536075" "SCTID:280656002" "EMAPA:37417" "MEDGEN:333019" @@ -74993,12 +74999,6 @@ "OMIM:600461" "Orphanet:1046" "GARD:2642" - "UMLS:C1840452" - "OMIM:143200" - "MedDRA:10063383" - "ICD10:H35.5" - "UMLS:C0339540" - "MeSH:C536075" "PMID:2419390" "HMDB:HMDB0011737" "KEGG:C05282" @@ -75237,11 +75237,11 @@ "Wikipedia:Carbuncle" "MedDRA:10007247" "DOID:2176" - "DOID:0080655" - "OMIMPS:612286" "OMIM:312870" "ICD10:Q87.3" "MeSH:C537340" + "DOID:0080655" + "OMIMPS:612286" "UMLS:C3553929" "NCIT:C155752" "OMIM:614859" @@ -75523,8 +75523,8 @@ "SCTID:181185000" "EV:0100357" "VHOG:0000312" - "EHDAA2:0001181" "EHDAA:5693" + "EHDAA2:0001181" "BTO:0002099" "CALOHA:TS-2233" "NCIT:C12274" @@ -75824,6 +75824,7 @@ "SNOMEDCT_US:48522003" "PMID:35347128" "RRID:CVCL_Z705" + "PMID:28240269" "MeSH:D011164" "SNOMEDCT:29094004" "SNOMEDCT:371628009" @@ -75831,7 +75832,6 @@ "DOID:13268" "ICD9:277.1" "PMID:29212900" - "PMID:28240269" "UMLS:C2112129" "UMLS:C4020865" "NCIt:C112934" @@ -76173,15 +76173,15 @@ "SCTID:55821006" "NORD:738" "ICD10:Q87.8" - "PMID:29875488" "UMLS:C1868773" "MEDGEN:1806599" "DOID:0050850" - "PMID:33634981" + "PMID:29875488" "DOID:0070021" "MEDGEN:462794" "UMLS:C3151444" "Wikipedia:Hearing_(sense)" + "PMID:33634981" "UMLS:C2700007" "Orphanet:289661" "icd11.foundation:407807101" @@ -76549,11 +76549,11 @@ "UMLS:C1851413" "OMIM:133701" "NCIT:C18252" - "NCIt:C46099" "http://en.wikipedia.org/wiki/Goblet_cell" "FMA:13148" "BTO:0001540" "ZFA:0009094" + "NCIt:C46099" "PMID:17190852" "CAS:443-79-8" "Beilstein:1721790" @@ -76734,9 +76734,9 @@ "MEDGEN:322520" "UMLS:C1834880" "OMIM:157151" - "PMID:29875488" "UMLS:C0497327" "SNOMEDCT_US:52448006" + "PMID:29875488" "Wikipedia:Steroid_metabolisms#Steroid_biosynthesis" "Orphanet:68378" "UM-BBD_pathwayID:met" @@ -76983,6 +76983,8 @@ "MESH:C565248" "MEDGEN:342897" "UMLS:C1853507" + "OMIM:185120" + "ICD10:Q87.1" "MONDO:0005435" "UMLS:C0341692" "ICD9:580.0" @@ -76990,8 +76992,6 @@ "NCIT:C35443" "SCTID:197579006" "DOID:13138" - "OMIM:185120" - "ICD10:Q87.1" "DOID:6293" "NCIT:C5451" "MEDGEN:272443" @@ -77346,13 +77346,13 @@ "icd11.foundation:1521808255" "SCTID:717705004" "PMID:29875488" + "KEGG COMPOUND:C01262" + "HMDB:0000194" "UMLS:C0432130" "UMLS:C0265240" "MeSH:D006053" "ICD10:Q87.0" "OMIM:164210" - "KEGG COMPOUND:C01262" - "HMDB:0000194" "MeSH:D045162" "Orphanet:284180" "MEDGEN:1684472" @@ -77574,6 +77574,7 @@ "Reactome:R-HSA-548831" "RHEA:19181" "EC:1.3.8.9" + "PMID:24816252" "NCIT:C36410" "Orphanet:316244" "UMLS:C0795844" @@ -77581,7 +77582,6 @@ "MESH:C538301" "MEDGEN:208640" "GARD:21404" - "PMID:24816252" "PMID:31626034" "UMLS:C1850553" "OMIM:256120" @@ -77923,7 +77923,6 @@ "UMLS:C0234533" "RRID:CVCL_D690" "BTO:0005066" - "PMID:29535761" "MESH:D006975" "SNOMEDCT:34742003" "NCIt:C3119" @@ -77938,8 +77937,9 @@ "MONDO:0005080" "SCTID:34742003" "MEDGEN:9375" - "ZFA:0000212" + "PMID:29535761" "UMLS:C1836195" + "ZFA:0000212" "MEDGEN:394835" "UMLS:C2678482" "GARD:10300" @@ -78012,6 +78012,9 @@ "MEDGEN:1713823" "UMLS:C5394296" "GARD:16388" + "OMIM:256500" + "MedDRA:10062909" + "ICD10:Q80.3" "MEDGEN:7292" "SCTID:26726000" "MedDRA:10035718" @@ -78027,9 +78030,6 @@ "Orphanet:549" "icd11.foundation:424434722" "MedDRA:10061266" - "OMIM:256500" - "MedDRA:10062909" - "ICD10:Q80.3" "UMLS:C5190839" "Orphanet:646139" "MEDGEN:1683894" @@ -78046,13 +78046,13 @@ "DOID:11126" "ICD9:287.4" "MEDGEN:509570" - "UMLS:C1839410" - "OMIM:312190" - "MeSH:C535281" "DOID:0070385" "UMLS:C5562018" "OMIM:619606" "MEDGEN:1794228" + "UMLS:C1839410" + "OMIM:312190" + "MeSH:C535281" "FBbt:00004482" "UMLS:C0279765" "NCIT:C8028" @@ -78213,12 +78213,12 @@ "DOID:0080311" "MESH:C537456" "PMID:29875488" - "OMIM:618608" "MEDGEN:569650" "UMLS:C0334346" "ICDO:8401/3" "NCIT:C4169" "DOID:4933" + "OMIM:618608" "UMLS:C1514430" "DOID:4011" "NCIT:C39898" @@ -79155,8 +79155,6 @@ "MEDGEN:231078" "NCIT:C5513" "PMID:29875488" - "CLO:0009830" - "RRID:CVCL_1771" "UMLS:C0349575" "NCIT:C4652" "SCTID:277155005" @@ -79166,6 +79164,8 @@ "Orphanet:209053" "UMLS:C5680843" "MEDGEN:1843244" + "CLO:0009830" + "RRID:CVCL_1771" "PMID:33634981" "PMID:29875488" "EFO:0003336" @@ -79315,8 +79315,8 @@ "UMLS:C5394477" "NCIt:C3285" "SCTID:4210003" - "MedDRA:10030043" "MESH:D009798" + "MedDRA:10030043" "DOID:9282" "MONDO:0006875" "UMLS:C0028840" @@ -79870,9 +79870,9 @@ "SCTID:448401007" "DOID:2024" "PMID:24816252" + "GC_ID:1" "MedDRA:10040115" "MeSH:D016868" - "GC_ID:1" "DOID:0110178" "UMLS:C5569050" "MEDGEN:1800473" @@ -80338,6 +80338,8 @@ "MEDGEN:508043" "SCTID:238525001" "UMLS:C0031736" + "OMIM:164310" + "ICD10:G71.0" "GARD:4582" "NANDO:1200750" "NANDO:1200746" @@ -80350,8 +80352,6 @@ "OMIMPS:265120" "SNOMEDCT:75777003" "NCIt:C20464" - "OMIM:164310" - "ICD10:G71.0" "MONDO:0005554" "UMLS:C0009326" "MESH:D012216" @@ -80449,9 +80449,9 @@ "Orphanet:262101" "MESH:C535449" "UMLS:C0265451" - "PMID:24816252" "UMLS:C0410192" "SNOMEDCT_US:240074006" + "PMID:24816252" "UMLS:C0268410" "OMIM:200950" "ICD10:E83.3" @@ -81502,7 +81502,6 @@ "VHOG:0000369" "EMAPA:17315" "BTO:0001702" - "PMID:29875488" "MEDGEN:414346" "OMIM:613094" "DOID:0060836" @@ -81512,6 +81511,7 @@ "FBbt:00004482" "EFO:0001927" "BTO:0004711" + "PMID:29875488" "NANDO:2200251" "OMIM:605067" "icd11.foundation:845891723" @@ -81684,9 +81684,9 @@ "TAO:0000453" "NCIT:C12812" "Wikipedia:Animal" - "PMID:24816252" "Orphanet:156168" "GARD:19988" + "PMID:24816252" "GARD:4977" "MEDGEN:376504" "Orphanet:93303" @@ -81850,18 +81850,18 @@ "OMIM:311300" "OMIM:304120" "ICD10:Q87.0" - "PMID:30475886" "NCIT:C7091" "UMLS:C1333798" "MEDGEN:234305" + "PMID:30475886" "PMID:29875488" + "OMIM:601370" + "UMLS:C1832424" + "ICD10:Q04.2" "PMID:36168886" "PMID:28011148" "Orphanet:307995" "GARD:21298" - "OMIM:601370" - "UMLS:C1832424" - "ICD10:Q04.2" "NCIt:C139267" "MONDO:0006758" "MESH:D014384" @@ -82148,8 +82148,6 @@ "MEDGEN:883982" "DOID:0060025" "Wikipedia:Selective_immunoglobulin_A_deficiency" - "UMLS:C0428870" - "SNOMEDCT_US:66130006" "GARD:12385" "UMLS:C0403812" "MEDGEN:98020" @@ -82158,6 +82156,8 @@ "DOID:0070183" "Orphanet:137893" "SCTID:236806004" + "UMLS:C0428870" + "SNOMEDCT_US:66130006" "RRID:CVCL_HL93" "MedDRA:10021531" "MeSH:D007169" @@ -82263,6 +82263,7 @@ "MONDO:0006455" "UMLS:C1336865" "PMID:29875488" + "MO:223" "MEDGEN:1734133" "MESH:C537871" "NANDO:2200737" @@ -82272,7 +82273,6 @@ "DOID:0080836" "OMIM:245590" "SCTID:724179008" - "MO:223" "DOID:5209" "NCIT:C40012" "SNOMEDCT:30920001" @@ -82331,7 +82331,6 @@ "BTO:0000039" "PO:0020123" "SNOMEDCT:444372005" - "NCIT:C17888" "EFO:0003449" "ZFA:0001211" "TAO:0001211" @@ -82367,9 +82366,11 @@ "MeSH:D014438" "ICD10:A75.0" "MedDRA:10061393" + "NCIT:C17888" "OMIM:618681" "Orphanet:295101" "PMID:35577822" + "PMID:35995766" "DOID:0050855" "SNOMEDCT:197660000" "HP:0030760" @@ -82379,7 +82380,6 @@ "MP:0003985" "PMID:16408108" "UMLS:C0151650" - "PMID:35995766" "PMID:28240269" "Orphanet:476113" "DOID:0111948" @@ -82677,10 +82677,10 @@ "SCTID:31541009" "Orphanet:797" "NCIT:C34995" + "PMID:25056547" "OMIM:602477" "MEDGEN:1794141" "UMLS:C5561931" - "PMID:25056547" "PMID:34814699" "MESH:D006957" "GARD:8593" @@ -83767,8 +83767,8 @@ "ICD10:H71" "ICD10CM:H71" "SCTID:194339007" - "MedDRA:10008645" "ICD9:385.32" + "MedDRA:10008645" "UMLS:C0155490" "ICD9:385.3" "MEDGEN:57836" @@ -84001,9 +84001,6 @@ "SCTID:363510005" "NCIT:C4978" "OMIM:114500" - "ICD10:G23.0" - "OMIM:606693" - "UMLS:C1847640" "Orphanet:398063" "UMLS:C4749333" "MONDO:0018353" @@ -84011,6 +84008,9 @@ "GARD:21640" "NORD:1653" "MEDGEN:1670595" + "ICD10:G23.0" + "OMIM:606693" + "UMLS:C1847640" "PMID:29875488" "RRID:CVCL_6782" "NIF_Subcellular:sao414196390" @@ -84106,14 +84106,14 @@ "SCTID:448674007" "MEDGEN:509332" "ICD9:183.4" - "BTO:0004469" - "RRID:CVCL_6832" "Orphanet:363623" "OMIM:615352" "GARD:12544" "MEDGEN:1377325" "DOID:0110294" "UMLS:C4518000" + "BTO:0004469" + "RRID:CVCL_6832" "PMID:33067605" "TAO:0001309" "Wikipedia:Neurogenic_placodes" @@ -84291,11 +84291,11 @@ "RRID:CVCL_9720" "BTO:0005736" "PMID:29266176" + "PMID:35383711" "UMLS:C0685394" "MEDGEN:672347" "Orphanet:295103" "SCTID:371189003" - "PMID:35383711" "SCTID:85866007" "GARD:6577" "ICD10:T56" @@ -84508,6 +84508,9 @@ "DOID:0050637" "Orphanet:85448" "OMIM:105120" + "OMIM:619609" + "UMLS:C5562020" + "MEDGEN:1794230" "NCIt:C40157" "ICD9:621.34" "UMLS:C1516855" @@ -84515,9 +84518,6 @@ "MONDO:0006193" "NCIT:C40157" "SCTID:134031000119108" - "OMIM:619609" - "UMLS:C5562020" - "MEDGEN:1794230" "SCTID:23414001" "MEDGEN:82859" "NCIT:C27062" @@ -84582,13 +84582,13 @@ "PMID:29875488" "UMLS:C4073168" "PMID:29230059" - "ICD10:H35.0" - "OMIM:617341" - "OMIM:612199" "DOID:3001" "MONDO:0002480" "UMLS:C0474809" "OMIM:618635" + "ICD10:H35.0" + "OMIM:617341" + "OMIM:612199" "Orphanet:262794" "icd11.foundation:325064766" "MEDGEN:208643" @@ -85001,11 +85001,11 @@ "ICD10:E75.0" "OMIM:268800" "UMLS:C0036161" - "SNOMEDCT:5197002" - "MeSH:D048668" "MEDGEN:1831005" "DOID:0081359" "UMLS:C5781877" + "SNOMEDCT:5197002" + "MeSH:D048668" "KEGG:C14383" "CAS:566-75-6" "HMDB:HMDB0000406" @@ -85205,10 +85205,10 @@ "MEDGEN:334510" "GARD:17229" "Orphanet:254881" + "UMLS:C4025797" "OMIM:607259" "OMIM:600146" "ICD10:G11.4" - "UMLS:C4025797" "MeSH:D013128" "PMID:29875488" "NCIT:C36169" @@ -85279,10 +85279,6 @@ "UMLS:C0001193" "PMID:35347128" "PMID:28240269" - "MedDRA:10064569" - "UMLS:C0268390" - "ICD10:E85.0" - "OMIM:191900" "MedDRA:10051051" "MONDO:0005240" "NCIT:C3149" @@ -85298,6 +85294,10 @@ "MEDGEN:9635" "MeSH:D007674" "DOID:557" + "MedDRA:10064569" + "UMLS:C0268390" + "ICD10:E85.0" + "OMIM:191900" "OMIM:608389" "OMIM:602588" "OMIM:120502" @@ -85359,9 +85359,9 @@ "UMLS:C5774255" "OMIM:620125" "PMID:34814699" - "PMID:35501403" "GARD:4859" "Orphanet:1940" + "PMID:35501403" "MEDDRA:10001926" "SNOMEDCT_US:62588002" "UMLS:C0002447" @@ -86221,14 +86221,14 @@ "UMLS:C0206633" "ICDO:8860/0" "GARD:12024" + "OMIM:620236" + "MEDGEN:1824081" + "UMLS:C5774308" "NCIt:C34627" "MedDRA:10017382" "MESH:D005627" "ICD10:T95" "ICD10:T35" - "OMIM:620236" - "MEDGEN:1824081" - "UMLS:C5774308" "MEDGEN:463217" "UMLS:C3151867" "Wikipedia:Proton_pump_inhibitor" @@ -86831,8 +86831,8 @@ "TAO:0001410" "BTO:0004687" "ZFA:0001410" - "FMA:53074" "galen:Orbit" + "FMA:53074" "Wikipedia:Orbit_(anatomy)" "MESH:D009915" "NCIT:C12347" @@ -86935,6 +86935,7 @@ "NCIT:C4775" "MEDGEN:96924" "EFO:1000907" + "ICD10:Q87.8" "MESH:C536056" "GARD:4151" "UMLS:C1843330" @@ -86942,15 +86943,14 @@ "DOID:0110937" "Orphanet:2783" "MEDGEN:335932" - "ICD10:Q87.8" - "MeSH:C536017" - "UMLS:C0220685" - "OMIM:200610" - "ICD10:Q77.0" "UMLS:C0861861" "DOID:5537" "NCIT:C5777" "MEDGEN:209017" + "MeSH:C536017" + "UMLS:C0220685" + "OMIM:200610" + "ICD10:Q77.0" "PMID:25934476" "MO:676" "MEDGEN:411554" @@ -87243,8 +87243,6 @@ "MESH:C567349" "UMLS:C2676732" "GARD:17065" - "MedDRA:10020624" - "DOID:14336" "HP:0001156" "MESH:D059327" "UMLS:C0221357" @@ -87263,6 +87261,8 @@ "NCIT:C7328" "SCTID:255107005" "ICD9:186.9" + "MedDRA:10020624" + "DOID:14336" "UMLS:C0264162" "SNOMEDCT_US:13534001" "UMLS:C0267166" @@ -87381,12 +87381,6 @@ "MESH:C562385" "UMLS:C0085576" "OMIM:206200" - "UMLS:C2931894" - "OMIM:252500" - "ICD10:E77.0" - "MedDRA:10072928" - "MeSH:C538602" - "UMLS:C0020725" "Orphanet:226" "OMIM:261630" "UMLS:C0268465" @@ -87395,6 +87389,12 @@ "NCIT:C138173" "GARD:4319" "SCTID:58256000" + "UMLS:C2931894" + "OMIM:252500" + "ICD10:E77.0" + "MedDRA:10072928" + "MeSH:C538602" + "UMLS:C0020725" "EFO:0005287" "MESH:D008228" "UMLS:C0024302" @@ -87455,6 +87455,7 @@ "RRID:CVCL_0179" "CLO:0002042" "BTO:0001932" + "PMID:34814699" "Orphanet:1942" "NANDO:1200590" "ICD9:345.10" @@ -87463,13 +87464,11 @@ "icd11.foundation:951920505" "UMLS:C0393702" "MEDGEN:98284" - "PMID:34814699" "UMLS:C4275100" "Orphanet:3004" "GARD:18784" "MEDGEN:904039" "PMID:29875488" - "PMID:36168886" "HP:0100817" "NCIt:C85044" "DOID:1591" @@ -87484,6 +87483,7 @@ "NANDO:2100016" "MONDO:0006947" "ICD9:405.91" + "PMID:36168886" "SCTID:726724005" "MEDGEN:401073" "UMLS:C1866745" @@ -87508,15 +87508,15 @@ "PMID:3599023" "PMID:16159627" "PMID:29875488" + "OMIM:604308" + "OMIM:154700" + "ICD10:Q87.4" "SNOMEDCT:23238000" "MeSH:D017074" "DOID:12177" "NCIt:C26725" "ICD9:279.06" "OMIM:607594" - "OMIM:604308" - "OMIM:154700" - "ICD10:Q87.4" "PMID:21343387" "KEGG COMPOUND:C02652" "Orphanet:295026" @@ -88059,11 +88059,11 @@ "ICD9:365.13" "ZFA:0000080" "PMID:29875488" + "FBbt:00005512" "CLO:0037061" "RRID:CVCL_0539" "BTO:0006462" "ATCC:CRL-2957" - "FBbt:00005512" "Orphanet:213782" "GARD:20490" "ICD10CM:C53.0" @@ -88163,9 +88163,9 @@ "EV:0100188" "MESH:D005917" "PMID:35264221" + "PMID:35347128" "ICD10:G71.0" "OMIM:159001" - "PMID:35347128" "PMID:28240269" "GARD:20122" "UMLS:C4511483" @@ -88356,14 +88356,14 @@ "Orphanet:1272" "SCTID:720955004" "UMLS:C0795941" - "FMA:23466" "SCTID:181948009" + "FMA:23466" "VSAO:0005013" "UMLS:C0041600" - "MESH:D014457" "GAID:188" "AAO:0000789" "EMAPA:19104" + "MESH:D014457" "Wikipedia:Ulna" "MA:0001358" "galen:Ulna" @@ -88419,8 +88419,8 @@ "PMID:35347128" "PMID:31530798" "PMID:29875488" - "ICD10:E77.8" "PMID:35995766" + "ICD10:E77.8" "UMLS:C1855033" "MeSH:C537476" "OMIM:251950" @@ -88976,14 +88976,14 @@ "MedDRA:10013830" "DOID:3558" "MeSH:D004380" + "SNOMEDCT:10546003" + "NCIt:C37901" "UMLS:C0154025" "NCIT:C3622" "NCIt:C3622" "SCTID:92068002" "MEDGEN:56328" "MONDO:0006105" - "SNOMEDCT:10546003" - "NCIt:C37901" "UMLS:C1832354" "SCTID:715529009" "Orphanet:3235" @@ -89265,8 +89265,8 @@ "MEDGEN:215295" "NCIt:C53652" "SCTID:394659003" - "MedDRA:10051592" "NCIT:C53652" + "MedDRA:10051592" "Orphanet:98549" "GARD:19492" "MEDGEN:338376" @@ -89339,24 +89339,17 @@ "UMLS:C0025322" "MedDRA:10036601" "MESH:D008594" + "UBERON:0001083" + "SNOMEDCT:56246009" + "NCIt:C3124" + "MedDRA:10020880" + "MeSH:D006984" "NCIt:C3512" "DOID:3910" "GARD:4775" "Orphanet:915" "MedDRA:10067148" "DOID:0111824" - "UBERON:0001083" - "SNOMEDCT:56246009" - "NCIt:C3124" - "MedDRA:10020880" - "MeSH:D006984" - "OMIM:615207" - "GARD:17550" - "DOID:0111982" - "UMLS:C3554687" - "MEDGEN:767601" - "Orphanet:357329" - "UMLS:C3276036" "GARD:7286" "MedDRA:10031252" "ICD9:730.0" @@ -89384,6 +89377,13 @@ "DOID:1019" "ICD9:730.10" "NCIT:C27577" + "UMLS:C3276036" + "OMIM:615207" + "GARD:17550" + "DOID:0111982" + "UMLS:C3554687" + "MEDGEN:767601" + "Orphanet:357329" "PMID:23823483" "Patent:US2898335" "Wikipedia:Nitrofurantoin" @@ -89429,8 +89429,8 @@ "UMLS:C5190690" "MedDRA:10076851" "Wikipedia:Neointimal_hyperplasia" - "RRID:CVCL_3985" "BTO:0003856" + "RRID:CVCL_3985" "PMID:29875488" "MEDGEN:87561" "NCIT:C4567" @@ -89466,10 +89466,10 @@ "MONDO:0005718" "PMID:23823483" "BTO:0001408" + "PMID:29875488" "ICD10:D64.0" "OMIM:300751" "MeSH:C536761" - "PMID:29875488" "ICD10:Q99.8" "GARD:20421" "Orphanet:209024" @@ -89862,13 +89862,6 @@ "MESH:C535799" "MEDGEN:163223" "DOID:0112195" - "GARD:19605" - "Orphanet:98946" - "SCTID:95202004" - "UMLS:C0521573" - "MEDGEN:141737" - "icd11.foundation:684436925" - "NCIT:C98878" "NCIt:C38053" "ICD9:89.52" "MeSH:D004562" @@ -89876,6 +89869,13 @@ "Orphanet:96076" "UMLS:C5681581" "MEDGEN:1826126" + "GARD:19605" + "Orphanet:98946" + "SCTID:95202004" + "UMLS:C0521573" + "MEDGEN:141737" + "icd11.foundation:684436925" + "NCIT:C98878" "NCIt:C12869" "BTO:0001702" "KEGG COMPOUND:C08677" @@ -90115,13 +90115,14 @@ "MedDRA:10048251" "ATCC:CRL-5926" "PMID:29875488" + "MeSH:D018724" + "NCIt:C72012" + "SNOMEDCT:256329006" "ICD10:Q87.8" "UMLS:C1856095" "MeSH:C535327" "OMIM:236110" - "MeSH:D018724" - "NCIt:C72012" - "SNOMEDCT:256329006" + "NCIt:C121821" "MA:0000775" "BTO:0004714" "Wikipedia:Palatine_tonsil" @@ -90136,7 +90137,6 @@ "FMA:9610" "UMLS:C0040421" "SCTID:265787001" - "NCIt:C121821" "ZFA:0000712" "MESH:D005611" "MeSH:D005611" @@ -90292,8 +90292,8 @@ "ZFA:0000904" "PMID:29875488" "ZFS:0000030" - "PMID:35347128" "NCIt:C61015" + "PMID:35347128" "OMIM:615360" "DOID:0110217" "GARD:15950" @@ -90586,11 +90586,11 @@ "NCIt:C35062" "icd11.foundation:1327645131" "MedDRA:10043097" + "PMID:29875488" "ONCOTREE:URCC" "EFO:1000603" "NCIT:C27892" "UMLS:C1336853" - "PMID:29875488" "PMID:9573679" "MEDGEN:777988" "MESH:C580174" @@ -90916,8 +90916,8 @@ "DOID:0090129" "MEDGEN:316820" "NORD:894" - "PMID:35347128" "PMID:35347128" + "PMID:35347128" "UMLS:C0520578" "SNOMEDCT_US:21779006" "OMIM:106400" @@ -91018,11 +91018,11 @@ "UMLS:C4082197" "SCTID:715795005" "Orphanet:64749" - "PMID:35050183" "MEDGEN:858066" "NCIT:C114940" "DOID:176" "UMLS:C3898472" + "PMID:35050183" "MESH:C563575" "MEDGEN:1686757" "GARD:16486" @@ -91030,8 +91030,8 @@ "Orphanet:254892" "DrugBank:DB00197" "Drug_Central:2767" - "MetaCyc:CPD-11439" "Patent:US4572912" + "MetaCyc:CPD-11439" "Beilstein:4338399" "SNOMEDCT:109085002" "NCIt:C1522" @@ -91174,6 +91174,7 @@ "BTO:0003807" "CLO:0001980" "PMID:29875488" + "PMID:29875488" "OMIM:611369" "DOID:0060653" "SCTID:715420005" @@ -91190,7 +91191,6 @@ "ICD9:759.89" "OMIM:604168" "MEDGEN:346973" - "PMID:29875488" "GARD:15763" "UMLS:C3279992" "MEDGEN:481622" @@ -91504,6 +91504,9 @@ "UMLS:C0280135" "DOID:5936" "PMID:35347128" + "PMID:33634981" + "HMDB:HMDB0000975" + "KEGG COMPOUND:C01083" "PMID:19829295" "MEDGEN:347327" "MESH:C536383" @@ -91511,9 +91514,6 @@ "GARD:2216" "OMIM:227210" "UMLS:C1856896" - "PMID:33634981" - "HMDB:HMDB0000975" - "KEGG COMPOUND:C01083" "PMID:35347128" "GARD:17341" "SCTID:699297004" @@ -91841,8 +91841,8 @@ "MedDRA:10029542" "GARD:10793" "Orphanet:100070" - "SCTID:716281000" "MESH:D057178" + "SCTID:716281000" "MEDGEN:148373" "UMLS:C0751706" "DOID:0081390" @@ -92030,10 +92030,10 @@ "CAS:17090-79-8" "LINCS:LSM-5659" "KEGG:C06693" + "KEGG COMPOUND:C17962" "ICD10:Q87.0" "OMIM:300484" "UMLS:C0796101" - "KEGG COMPOUND:C17962" "SCTID:715474004" "OMIM:228900" "GARD:9879" @@ -92459,6 +92459,7 @@ "UMLS:C5680029" "GARD:17626" "PMID:35347128" + "PMID:33634981" "MEDGEN:383079" "SCTID:711482008" "Orphanet:313838" @@ -92467,7 +92468,6 @@ "ICD9:348.89" "OMIMPS:612199" "MESH:C567401" - "PMID:33634981" "GARD:21431" "Orphanet:320346" "PMID:29875488" @@ -92662,8 +92662,8 @@ "GARD:18652" "MEDGEN:713680" "PMID:30134952" - "PMID:31530798" "PMID:29875488" + "PMID:31530798" "PMID:35347128" "MEDGEN:337124" "Orphanet:85297" @@ -92817,10 +92817,10 @@ "UMLS:C0345630" "MEDGEN:138023" "ZFA:0001073" - "ICD10:Q93.5" "MEDGEN:1636547" "UMLS:C4693563" "OMIM:617912" + "ICD10:Q93.5" "MEDGEN:510249" "UMLS:C0156345" "SCTID:198251001" @@ -92864,8 +92864,8 @@ "ICD10CM:D02.1" "NCIT:C3639" "UMLS:C0154070" - "MEDGEN:57816" "ICD9:231.1" + "MEDGEN:57816" "SCTID:92772005" "DOID:8802" "SNOMEDCT:80268001" @@ -93027,8 +93027,6 @@ "ICD10:D69.8" "UMLS:C0796149" "PMID:29875488" - "MEDGEN:66020" - "UMLS:C0240991" "DOID:3055" "MedDRA:10033975" "ICD9:002.3" @@ -93046,6 +93044,8 @@ "UMLS:C0030528" "MONDO:0018626" "ICD9:002.9" + "MEDGEN:66020" + "UMLS:C0240991" "MEDGEN:57598" "DOID:7736" "ICD9:362.15" @@ -93258,8 +93258,8 @@ "MedDRA:10065555" "UMLS:C0751587" "MeSH:D046589" - "PMID:24816252" "ZFA:0001262" + "PMID:24816252" "OMIM:270850" "MEDGEN:340297" "UMLS:C1849332" @@ -93267,6 +93267,7 @@ "Orphanet:1806" "MESH:C535865" "GARD:2045" + "PMID:28355232" "MedDRA:10052313" "ICD10:I15.1" "MeSH:D056929" @@ -93274,13 +93275,12 @@ "MedDRA:10037113" "UMLS:C0221043" "OMIM:618126" - "PMID:28355232" - "WBls:0000021" "MEDGEN:767353" "UMLS:C3554439" "GARD:17468" "Orphanet:319671" "OMIM:615071" + "WBls:0000021" "SNOMEDCT_US:53619000" "UMLS:C0012242" "UMLS:C0017178" @@ -93300,7 +93300,6 @@ "OMIM:619725" "UMLS:C4023476" "PMID:35668104" - "OMIM:607823" "SNOMEDCT:442143003" "EMAPA:28393" "Wikipedia:Distal_convoluted_tubule" @@ -93310,16 +93309,17 @@ "NCIT:C32469" "EV:0100389" "UMLS:C0022676" + "OMIM:607823" "MeSH:D052958" + "GARD:21705" + "Orphanet:401923" + "UMLS:C4750910" + "MEDGEN:1665719" "EFO:1000604" "MEDGEN:76010" "UMLS:C0279653" "MONDO:0006476" "NCIT:C9167" - "GARD:21705" - "Orphanet:401923" - "UMLS:C4750910" - "MEDGEN:1665719" "GARD:22643" "UMLS:C2829265" "OMIM:614617" @@ -93338,6 +93338,10 @@ "GARD:17261" "MEDGEN:453209" "PMID:29875488" + "UMLS:C2931373" + "OMIM:607214" + "MeSH:C536948" + "ICD10:Q87.8" "Orphanet:261120" "OMIM:613457" "SCTID:719047001" @@ -93345,10 +93349,6 @@ "GARD:17241" "UMLS:C3150707" "DOID:0060392" - "UMLS:C2931373" - "OMIM:607214" - "MeSH:C536948" - "ICD10:Q87.8" "DECIPHER:44" "UMLS:C2931817" "MESH:C538317" @@ -93542,8 +93542,8 @@ "SNOMEDCT:415604001" "UMLS:C4020874" "UMLS:C1854301" - "PMID:29875488" "PMID:37164013" + "PMID:29875488" "UMLS:C1333097" "Orphanet:100080" "GARD:19755" @@ -93883,11 +93883,11 @@ "ICD10:C92.3" "UMLS:C2930954" "ICD10:Q87.8" + "PMID:25387704" "SCTID:449156009" "UMLS:C3164417" "MEDGEN:756825" "NCIT:C9319" - "PMID:25387704" "ZFA:0000250" "PMID:35347128" "OMIM:614279" @@ -94317,6 +94317,12 @@ "MeSH:D008591" "SNOMEDCT:414667000" "Orphanet:93220" + "ICD10:Q73.8" + "MeSH:C535687" + "MedDRA:10084326" + "OMIM:268300" + "UMLS:C0392475" + "OMIM:269000" "TAO:0002157" "FMA:58309" "MA:0001246" @@ -94328,12 +94334,6 @@ "MESH:D003886" "GAID:894" "UMLS:C0011665" - "ICD10:Q73.8" - "MeSH:C535687" - "MedDRA:10084326" - "OMIM:268300" - "UMLS:C0392475" - "OMIM:269000" "ZFA:0009337" "ICD10:Q87.8" "MeSH:C537279" @@ -94515,13 +94515,13 @@ "UMLS:C0699790" "Orphanet:102284" "PMID:29875488" + "PMID:31294817" "MeSH:D048089" "DOID:13274" "SNOMEDCT_US:128334002" "ICD10:K07" "UMLS:C0026633" "OMIM:620569" - "PMID:31294817" "GARD:12568" "OMIM:612953" "MEDGEN:414488" @@ -94984,6 +94984,7 @@ "PMID:35347128" "Chemspider:24823001" "LIPID_MAPS_instance:LMGP01050003" + "MONDO:0005301" "NCIT:C3453" "MONDO:0019610" "SCTID:53132006" @@ -95005,7 +95006,6 @@ "SCTID:302824004" "icd11.foundation:375645550" "GARD:0007918" - "MONDO:0005301" "NANDO:1200671" "MESH:D011038" "GARD:4392" @@ -95199,15 +95199,15 @@ "DOID:13419" "SCTID:425671009" "PMID:28240269" + "MEDGEN:541400" + "UMLS:C0268669" + "DOID:0070317" "DOID:0070053" "MEDGEN:816736" "OMIM:615761" "GARD:17673" "UMLS:C3810406" "Orphanet:404440" - "MEDGEN:541400" - "UMLS:C0268669" - "DOID:0070317" "Orphanet:181425" "SCTID:733473000" "Orphanet:96078" @@ -95501,8 +95501,8 @@ "DOID:14151" "NCIT:C5158" "PMID:29875488" - "Wikipedia:Collagen_type_II" "PMID:35347128" + "Wikipedia:Collagen_type_II" "PMID:37253714" "PMID:29875488" "PMID:12832487" @@ -95792,7 +95792,6 @@ "Orphanet:98555" "GARD:19493" "ICD10:E34.8" - "PMID:37164013" "UMLS:C0153601" "ICD9:187.3" "Orphanet:398043" @@ -95802,6 +95801,7 @@ "DOID:11615" "SCTID:363516004" "GARD:9366" + "PMID:37164013" "DOID:4119" "NCIT:C5695" "UMLS:C1334231" @@ -95890,10 +95890,10 @@ "UMLS:C0426970" "Orphanet:93604" "PMID:29875488" - "ICD10:E72.8" - "OMIM:300352" "FMA:72356" "MeSH:D018728" + "ICD10:E72.8" + "OMIM:300352" "PMID:29875488" "UMLS:C1840457" "RRID:CVCL_1K15" @@ -95994,8 +95994,8 @@ "SCTID:267601009" "ICD9:357.9" "UMLS:C1864365" - "PMID:26068415" "NCIt:C22552" + "PMID:26068415" "PMID:28447399" "MedDRA:10078164" "UMLS:C1562894" @@ -96531,11 +96531,11 @@ "NCIT:C4868" "UMLS:C0677608" "SCTID:237268002" - "NCIt:C5716" "UMLS:C1837015" "OMIM:608984" "DOID:0111170" "MEDGEN:332346" + "NCIt:C5716" "Wikipedia:Erythropoiesis" "DOID:1965" "MEDGEN:274488" @@ -96838,7 +96838,6 @@ "SCTID:187842004" "UMLS:C0153484" "NCIT:C3545" - "OMIM:615485" "MEDGEN:330749" "Orphanet:2085" "OMIM:137763" @@ -96860,6 +96859,7 @@ "UMLS:C0302809" "SNOMEDCT_US:427044009" "PMID:29875488" + "OMIM:615485" "OMIM:236640" "OMIMPS:607631" "SNOMEDCT_US:25064002" @@ -97380,6 +97380,7 @@ "DOID:7463" "PMID:32341457" "Wikipedia:Single_cell_sequencing" + "PMID:35995766" "AAO:0000686" "ZFA:0000170" "EFO:0003503" @@ -97393,7 +97394,6 @@ "UMLS:C1257958" "DOID:4194" "ICD9:271.8" - "PMID:35995766" "UMLS:C5190524" "Orphanet:96188" "GARD:19338" @@ -98370,7 +98370,6 @@ "NCIT:C14158" "SCTID:720814001" "Orphanet:1535" - "PMID:20714644" "SCTID:715647007" "OMIM:607475" "UMLS:C1843816" @@ -98380,6 +98379,7 @@ "MEDGEN:334499" "Orphanet:85128" "GARD:16734" + "PMID:20714644" "NCIt:C13129" "SNOMEDCT:16671004" "FMA:83518" @@ -98469,16 +98469,16 @@ "NANDO:2100235" "NANDO:2200876" "ICD9:759.89" - "Wikipedia:Ribulose_5-phosphate" "OMIM:603457" "ICD10:Q87.0" + "Wikipedia:Ribulose_5-phosphate" + "PMID:36006120" "PMID:23897579" "OMIM:613576" "GARD:17199" "Orphanet:247827" "UMLS:C3150809" "MEDGEN:462159" - "PMID:36006120" "PMID:19347970" "PMID:21930197" "Reaxys:85302" @@ -99256,11 +99256,11 @@ "UMLS:C0009766" "MONDO:0005642" "ZFA:0001076" - "PMID:2784066" "Orphanet:207119" "GARD:20403" "UMLS:C5680827" "MEDGEN:1842706" + "PMID:2784066" "OMIM:109200" "UMLS:C4049090" "MEDGEN:886756" @@ -99449,8 +99449,6 @@ "SCTID:72682008" "Orphanet:248401" "GARD:20680" - "OMIM:610127" - "ICD10:E75.4" "Orphanet:1653" "ICD9:520.5" "icd11.foundation:1262020657" @@ -99460,6 +99458,8 @@ "MESH:D003805" "UMLS:C0011430" "GARD:16575" + "OMIM:610127" + "ICD10:E75.4" "PMID:29875488" "SCTID:68659002" "ICD10CM:H10.5" @@ -99641,13 +99641,13 @@ "NIF_Subcellular:sao1702920020" "Wikipedia:Cell_nucleus" "ICD10:E88.2" - "PMID:29875488" "DOID:0070048" "UMLS:C3554448" "GARD:12815" "OMIM:615074" "MEDGEN:767362" "Orphanet:363686" + "PMID:29875488" "OMIM:610127" "ICD10:E75.4" "PMID:29875488" @@ -99745,8 +99745,8 @@ "DOID:2962" "NCIt:C9460" "MeSH:D003057" - "PMID:23823483" "OMIM:604320" + "PMID:23823483" "MO:213" "NCIt:C20134" "MeSH:D012907" @@ -99920,6 +99920,9 @@ "MESH:D047808" "UMLS:C0302280" "ICD9:255.2" + "UMLS:C1841989" + "OMIM:137940" + "MeSH:C536825" " CLO:0050249" "RRID:CVCL_3155" "CLO:0008820" @@ -99935,9 +99938,6 @@ "XAO:0003030" "EMAPA:17412" "BTO:0001729" - "UMLS:C1841989" - "OMIM:137940" - "MeSH:C536825" "MeSH:D020203" "MEDGEN:60009" "NCIT:C27004" @@ -100585,8 +100585,8 @@ "PMID:12681244" "WBbt:0006797" "MESH:D009865" - "ZFA:0009008" "ZFA:0001109" + "ZFA:0009008" "FMA:18644" "FBbt:00004886" "BTO:0000964" @@ -100794,13 +100794,6 @@ "Orphanet:46724" "DOID:0060688" "icd11.foundation:153256729" - "OMIM:615095" - "Orphanet:329228" - "SCTID:724141003" - "MEDGEN:767413" - "DOID:0070294" - "GARD:17498" - "UMLS:C3554499" "SCTID:88151007" "MESH:D007637" "ICD9:370.49" @@ -100812,6 +100805,13 @@ "DOID:9368" "NCIT:C34744" "ICD9:370.40" + "OMIM:615095" + "Orphanet:329228" + "SCTID:724141003" + "MEDGEN:767413" + "DOID:0070294" + "GARD:17498" + "UMLS:C3554499" "SCTID:70794004" "Orphanet:66630" "UMLS:C0265565" @@ -101135,17 +101135,17 @@ "UMLS:C0231686" "SNOMEDCT_US:394616008" "SNOMEDCT_US:22631008" + "PMID:29875488" "MeSH:C025999" "KEGG:C01226" "CAS:67204-66-4" "Beilstein:4354678" "NCIt:C30176" "KNApSAcK:C00000365" - "PMID:29875488" + "PMID:37253714" "EC:1.5.1.34" "MetaCyc:1.5.1.34-RXN" "Reactome:R-HSA-71130" - "PMID:37253714" "PMID:31190057" "MO:983" "UMLS:C0014852" @@ -101740,9 +101740,9 @@ "ICD10:K00.5" "PMID:29875488" "PMID:29875488" - "WBls:0000024" "UMLS:C0221259" "SNOMEDCT_US:60332004" + "WBls:0000024" "ICD10CM:G11.4" "UMLS:C3554449" "Orphanet:404473" @@ -102631,6 +102631,15 @@ "MEDGEN:1759100" "UMLS:C5436652" "OMIM:619036" + "ICD9:379.29" + "ICD10:H43" + "NCIT:C45256" + "MONDO:0044137" + "UMLS:C0155365" + "ICD10:H45" + "MEDGEN:56361" + "NCIt:C45256" + "SCTID:76682005" "SNOMEDCT:300920004" "SCTID:371160000" "MONDO:0005269" @@ -102643,15 +102652,6 @@ "ICD9:447.9" "MeSH:D002340" "NCIt:C84476" - "ICD9:379.29" - "ICD10:H43" - "NCIT:C45256" - "MONDO:0044137" - "UMLS:C0155365" - "ICD10:H45" - "MEDGEN:56361" - "NCIt:C45256" - "SCTID:76682005" "PMID:34610981" "BM:Tel-C-Pu" "BAMS:CPu" @@ -102716,10 +102716,10 @@ "GARD:19517" "Orphanet:98623" "PMID:35347128" + "PMID:24816252" "RRID:CVCL_0620" "CLO:0007636" "BTO:0001569" - "PMID:24816252" "EFO:0000304" "MEDGEN:167809" "NCIT:C5214" @@ -102814,13 +102814,13 @@ "DOID:3687" "OMIM:540000" "PMID:28240269" + "BTO:0004471" + "RRID:CVCL_0405" "MedDRA:10068349" "UMLS:C2363744" "Orphanet:289644" "GARD:21147" "MEDGEN:797800" - "BTO:0004471" - "RRID:CVCL_0405" "MESH:D005330" "SCTID:13404009" "DOID:13576" @@ -103252,6 +103252,7 @@ "UMLS:C0205710" "ICD10:G31.8" "MeSH:D002549" + "PMID:29875488" "Orphanet:1578" "DOID:0081131" "SCTID:124646004" @@ -103261,7 +103262,6 @@ "OMIM:264070" "ICD9:277.6" "MEDGEN:337890" - "PMID:29875488" "NCIt:C67015" "NCIT:C5969" "DOID:4206" @@ -103903,8 +103903,8 @@ "MEDGEN:1843079" "icd11.foundation:2097520643" "PMID:26068415" - "PMID:35347128" "PMID:34503513" + "PMID:35347128" "MEDGEN:1823998" "UMLS:C5774225" "OMIM:620066" @@ -104020,12 +104020,12 @@ "GARD:0009953" "DOID:3181" "UMLS:C0028945" - "GARD:19423" - "Orphanet:98152" "MEDGEN:1655593" "Orphanet:314575" "UMLS:C4751073" "GARD:21379" + "GARD:19423" + "Orphanet:98152" "RRID:CVCL_2909" "PMID:35383335" "PMID:29875488" @@ -104095,6 +104095,8 @@ "BTO:0005476" "PMID:10718481" "PMID:10604729" + "KEGG COMPOUND:C00544" + "HMDB:0000130" "ICD9:126.8" "ICD9:126.9" "UMLS:C0002831" @@ -104110,8 +104112,6 @@ "NCIT:C35805" "MEDGEN:1522" "Orphanet:78" - "KEGG COMPOUND:C00544" - "HMDB:0000130" "Orphanet:16" "OMIM:303700" "DOID:0050679" @@ -104143,8 +104143,8 @@ "MAT:0000137" "AAO:0010140" "CALOHA:TS-1060" - "MESH:D014132" "EV:0100040" + "MESH:D014132" "SCTID:181213009" "GAID:361" "UMLS:C0040578" @@ -104411,14 +104411,14 @@ "ICD9:204.9" "ICDO:9835/3" "MEDGEN:7317" - "Wikipedia:Erythrasma" - "MedDRA:10015248" - "DOID:4131" "SNOMEDCT_US:422400008" "SNOMEDCT_US:300359004" "UMLS:C0042963" "SNOMEDCT_US:249497008" "MEDDRA:10047700" + "Wikipedia:Erythrasma" + "MedDRA:10015248" + "DOID:4131" "PMID:28240269" "MeSH:D019342" "PMID:16774200" @@ -104462,6 +104462,7 @@ "UMLS:C0272394" "NCIT:C35346" "MEDGEN:78802" + "CALOHA:TS-1057" "SCTID:362113009" "EMAPA:35303" "UMLS:C0011350" @@ -104473,7 +104474,6 @@ "BTO:0001844" "FMA:55629" "NCIT:C32505" - "CALOHA:TS-1057" "UMLS:C0265407" "MEDGEN:75571" "NORD:1671" @@ -104708,11 +104708,6 @@ "OMIM:158170" "UMLS:C1846434" "UMLS:C4023701" - "MEDGEN:1794251" - "DOID:0060964" - "OMIM:619656" - "UMLS:C5562041" - "PMID:26192317" "DOID:2871" "ONCOTREE:UCEC" "SCTID:254878006" @@ -104721,6 +104716,11 @@ "MONDO:0002447" "NCIT:C7558" "MEDGEN:96903" + "MEDGEN:1794251" + "DOID:0060964" + "OMIM:619656" + "UMLS:C5562041" + "PMID:26192317" "UMLS:C0085110" "SNOMEDCT_US:31323000" "PMID:29875488" @@ -105108,13 +105108,13 @@ "SCTID:26484003" "UMLS:C0006015" "PMID:29875488" + "PMID:24816252" "UMLS:C1853116" "GARD:12234" "OMIM:610743" "MEDGEN:343973" "DOID:0111618" "Orphanet:88644" - "PMID:24816252" "MESH:C563037" "UMLS:C0748473" "OMIM:108100" @@ -105272,8 +105272,6 @@ "ICD9:594.1" "SCTID:70650003" "NCIt:C26707" - "RRID:CVCL_C836" - "BTO:0005717" "UMLS:C0877024" "NCIT:C135087" "DOID:0060490" @@ -105287,9 +105285,11 @@ "NANDO:1200337" "Orphanet:1830" "NANDO:2200711" + "RRID:CVCL_C836" + "BTO:0005717" "PMID:29875488" - "PMID:35501403" "PMID:28240269" + "PMID:35501403" "Orphanet:413" "DOID:1172" "ICD9:272.1" @@ -105389,8 +105389,8 @@ "CiteXplore:20451398" "CiteXplore:19509219" "MeSH:D008711" - "CAS:17692-51-2" "NCIt:C91039" + "CAS:17692-51-2" "PMID:19509219" "Reaxys:5362415" "CiteXplore:19632276" @@ -106255,6 +106255,11 @@ "OMIM:618829" "MEDGEN:1714169" "UMLS:C5394221" + "OMIM:602482" + "ICD10:Q13.8" + "OMIM:137600" + "MedDRA:10059198" + "OMIM:601631" "NANDO:2100180" "NORD:819" "OMIM:209300" @@ -106267,11 +106272,6 @@ "SCTID:111571009" "MESH:C538259" "Orphanet:1195" - "OMIM:602482" - "ICD10:Q13.8" - "OMIM:137600" - "MedDRA:10059198" - "OMIM:601631" "PMID:35347128" "MONDO:0003493" "EFO:1000579" @@ -106399,8 +106399,6 @@ "ICD10:Q87.8" "PMID:19347970" "SNOMEDCT:81454004" - "ICD10:E23.0" - "OMIM:300123" "NCIT:C131533" "GARD:10140" "SCTID:720565000" @@ -106410,9 +106408,11 @@ "NORD:1981" "MESH:C537419" "MEDGEN:208678" + "ICD10:E23.0" + "OMIM:300123" + "ICD10:Q93.5" "PMID:33283231" "UMLS:C0742028" - "ICD10:Q93.5" "GARD:16751" "Orphanet:85324" "MESH:C567474" @@ -106476,11 +106476,6 @@ "MONDO:0005484" "DOID:0050860" "UMLS:C1302401" - "MedDRA:10061976" - "DOID:1234" - "UMLS:C0017250" - "NCIt:C94362" - "ICD10:F64" "EMAPA:18256" "BTO:0001978" "NCIT:C12375" @@ -106501,6 +106496,11 @@ "MESH:C535780" "ICD9:758.89" "OMIM:272460" + "MedDRA:10061976" + "DOID:1234" + "UMLS:C0017250" + "NCIt:C94362" + "ICD10:F64" "MEDGEN:3623" "NCIT:C35505" "ICD9:414.00" @@ -106834,13 +106834,13 @@ "FMA:55630" "UMLS:C1858695" "OMIM:604213" + "Orphanet:137608" + "UMLS:CN199243" + "SCTID:763867001" "PMID:35446786" "Orphanet:331244" "GARD:21514" "Orphanet:295067" - "Orphanet:137608" - "UMLS:CN199243" - "SCTID:763867001" "FBbt:00000111" "EFO:0000414" "MAT:0000173" @@ -107159,9 +107159,9 @@ "MedDRA:10064572" "OMIM:608156" "ICD10:Q93.5" + "PMID:29875488" "PMID:33634981" "OMIMPS:275200" - "PMID:29875488" "NCIt:C86544" "MeSH:D009166" "SNOMEDCT:58242002" @@ -107260,9 +107260,9 @@ "Orphanet:101988" "icd11.foundation:551037838" "GARD:19810" - "Wikipedia:Oligomycin" "OMIM:300299" "ICD10:D70" + "Wikipedia:Oligomycin" "PMID:28928442" "UMLS:C0003564" "SNOMEDCT_US:44564008" @@ -107317,18 +107317,18 @@ "OMIM:300645" "OMIM:300584" "ICD10:D84.8" - "MP:0006202" - "ICD10:H43.1" - "HP:0007902" - "MedDRA:10047656" - "NCIt:C50469" - "MeSH:D014823" "OMIM:174000" "Orphanet:88949" "MEDGEN:358137" "GARD:7002" "NCIT:C123171" "UMLS:C1868139" + "MP:0006202" + "ICD10:H43.1" + "HP:0007902" + "MedDRA:10047656" + "NCIt:C50469" + "MeSH:D014823" "UMLS:C1843042" "MESH:C564332" "OMIM:607812" @@ -107971,7 +107971,6 @@ "MA:0000171" "FMA:62001" "PMID:35347128" - "PMID:24816252" "UMLS:C0030442" "MONDO:0008890" "SNOMEDCT:54304004" @@ -107987,6 +107986,7 @@ "NCIt:C85026" "GARD:10928" "MESH:D010244" + "PMID:24816252" "ICD10:E26.8" "OMIM:601198" "Wikipedia:Protein_metabolism" @@ -108042,11 +108042,11 @@ "PMID:35347128" "PMID:35347128" "NCIt:C117184" - "PMID:21177962" - "PMID:25262759" "OMIM:177650" "MEDGEN:864692" "UMLS:C4016255" + "PMID:21177962" + "PMID:25262759" "HMDB:0036583" "EV:0100089" "XAO:0000133" @@ -108270,13 +108270,13 @@ "GARD:10520" "DOID:0060382" "PMID:33634981" + "BTO:0006459" + "RRID:CVCL_1334" "ICD10:Q51.8" "OMIM:601076" "OMIM:277000" "OMIM:158330" "MedDRA:10065148" - "BTO:0006459" - "RRID:CVCL_1334" "OMIM:615225" "Orphanet:34517" "UMLS:C4304301" @@ -108753,8 +108753,8 @@ "NCIT:C8113" "PMID:29875488" "NCIt:C40036" - "GARD:10923" "PMID:28240269" + "GARD:10923" "UMLS:C4225332" "MEDGEN:904191" "DOID:0060788" @@ -108846,12 +108846,12 @@ "PMID:35347128" "PMID:23823483" "OMIMPS:616263" + "OMIM:613647" + "ICD10:G11.4" "UMLS:C1333966" "MEDGEN:232274" "DOID:8022" "NCIT:C5832" - "OMIM:613647" - "ICD10:G11.4" "PMID:24816252" "UMLS:C0005396" "NCIT:C2898" @@ -108915,10 +108915,10 @@ "MEDGEN:1658540" "UMLS:C0035528" "SNOMEDCT_US:20307000" + "PMID:29875488" "OMIM:181400" "ICD10:G12.1" "OMIM:181405" - "PMID:29875488" "PMID:35347128" "OMIM:109500" "Orphanet:2285" @@ -109304,7 +109304,6 @@ "Orphanet:213741" "OMIM:226750" "ICD10:G40.8" - "MeSH:D017733" "SCTID:361364000" "EMAPA:32682" "GAID:349" @@ -109316,6 +109315,7 @@ "Wikipedia:Pulmonary_alveolus" "MESH:D011650" "EFO:0001985" + "MeSH:D017733" "DOID:0070201" "UMLS:C2750076" "MEDGEN:413750" @@ -109328,12 +109328,12 @@ "EFO:1000191" "MEDGEN:474460" "NCIT:C96503" - "MedDRA:10043275" "NCIt:C117192" "DOID:2072" "NCIT:C40283" "MEDGEN:276998" "UMLS:C1520097" + "MedDRA:10043275" "SCTID:33979003" "Orphanet:2633" "OMIM:163400" @@ -109658,13 +109658,13 @@ "OMIM:612900" "OMIM:603513" "MedDRA:10074398" + "ICD10:Q79.6" + "OMIM:614557" "MEDGEN:859271" "DOID:0070325" "GTR:AN0102113" "NCIT:C118822" "UMLS:C3899677" - "ICD10:Q79.6" - "OMIM:614557" "CAS:9002-60-2" "KEGG:C02017" "KEGG:D00146" @@ -109813,8 +109813,8 @@ "UMLS:C0162670" "GARD:20371" "icd11.foundation:601991549" - "NCIT:C101328" "Orphanet:206966" + "NCIT:C101328" "DOID:699" "MESH:D017240" "MedDRA:10027710" @@ -110219,8 +110219,8 @@ "NANDO:2200100" "NCIT:C49274" "CALOHA:TS-1262" - "TAO:0001287" "FMA:15627" + "TAO:0001287" "EMAPA:27782" "UMLS:C0022674" "EV:0100387" @@ -111004,11 +111004,11 @@ "DOID:2150" "SNOMEDCT:18284006" "NCIt:C96623" - "PMID:29875488" "NCIT:C6531" "DOID:2706" "UMLS:C1334624" "MEDGEN:277340" + "PMID:29875488" "RRID:CVCL_C0HY" "PMID:23823483" "UMLS:C5543301" @@ -111133,10 +111133,6 @@ "OMIM:613675" "ICD10:Q85.0" "MeSH:D041881" - "BTO:0001205" - "CLO:0008893" - "RRID:CVCL_4006" - "PMID:35331647" "MedDRA:10021906" "NCIT:C78359" "MEDGEN:75798" @@ -111146,6 +111142,10 @@ "SCTID:39341005" "NCIt:C78359" "UMLS:C0277524" + "BTO:0001205" + "CLO:0008893" + "RRID:CVCL_4006" + "PMID:35331647" "UMLS:C5191004" "MEDGEN:1679887" "GARD:10948" @@ -111236,7 +111236,6 @@ "NCIT:C3357" "MEDGEN:48439" "UMLS:C0035358" - "PMID:26068415" "ICD9:729.3" "MEDGEN:45301" "DOID:1526" @@ -111251,6 +111250,7 @@ "UMLS:C0030326" "ICD9:729.30" "SCTID:22125009" + "PMID:26068415" "PMID:29875488" "EHDAA:394" "ZFA:0000010" @@ -111467,12 +111467,12 @@ "UMLS:C1844776" "GARD:10652" "PMID:29875488" - "Wikipedia:VCAM-1" - "PMID:31217265" "SNOMEDCT:30482000" "UMLS:C1836038" "NCIt:C247" "Wikipedia:ACE_inhibitor" + "Wikipedia:VCAM-1" + "PMID:31217265" "PMID:29875488" "PMID:33283231" "ICD10:Q93.5" @@ -111493,12 +111493,12 @@ "Orphanet:279919" "icd11.foundation:1722408748" "MEDGEN:1701702" - "PMID:35995766" - "ICD10:G11.1" - "PMID:28240269" "OMIM:232240" "ICD10:E74.0" "OMIM:232220" + "PMID:35995766" + "ICD10:G11.1" + "PMID:28240269" "MEDGEN:325276" "UMLS:C1837872" "OMIM:608556" @@ -112084,6 +112084,7 @@ "UMLS:C1868120" "GARD:16818" "PMID:35501403" + "ICD10:Q93.5" "SCTID:700423003" "MONDO:0006047" "EFO:1000044" @@ -112092,7 +112093,7 @@ "NCIT:C8294" "UMLS:C0281361" "DOID:4074" - "ICD10:Q93.5" + "PMID:30367910" "MEDGEN:91158" "SCTID:277507004" "UMLS:C0349620" @@ -112106,7 +112107,6 @@ "MEDGEN:909011" "NCIt:C60702" "SNOMEDCT:255226008" - "PMID:30367910" "SCTID:50143004" "DOID:2382" "MESH:D007647" @@ -112296,10 +112296,6 @@ "ICD9:246.8" "UMLS:C0271824" "SCTID:36985004" - "UMLS:C4751006" - "MEDGEN:1651057" - "Orphanet:324540" - "GARD:21443" "MONDO:0006583" "MESH:D009335" "MedDRA:10028847" @@ -112312,6 +112308,10 @@ "MEDGEN:45021" "GARD:13040" "NCIT:C34840" + "UMLS:C4751006" + "MEDGEN:1651057" + "Orphanet:324540" + "GARD:21443" "UMLS:C4706553" "Orphanet:1665" "GARD:18734" @@ -112331,6 +112331,8 @@ "ICD10:H18.5" "VFB:FBbt_00005824" "FBbt:00005824" + "PMID:21177962" + "PMID:25262759" "MEDGEN:369590" "SCTID:720853005" "GARD:17045" @@ -112338,8 +112340,6 @@ "OMIM:611291" "MESH:C566970" "UMLS:C1969799" - "PMID:21177962" - "PMID:25262759" "UMLS:C3280677" "MEDGEN:482307" "OMIM:614395" @@ -112820,8 +112820,8 @@ "UMLS:C5190802" "GARD:17433" "NCIt:C117189" - "MCC:0000426" "RRID:CVCL_0526" + "MCC:0000426" "CLO:0009043" "BTO:0002131" "CLO:0004291" @@ -113050,10 +113050,6 @@ " CLO:0051387" "RRID:CVCL_0194" "PMID:35148957" - "UMLS:C4749580" - "MEDGEN:1659846" - "GARD:21083" - "Orphanet:280384" "MedDRA:10012432" "UMLS:C0234894" "NCIt:C35277" @@ -113064,6 +113060,10 @@ "MONDO:0006521" "MedDRA:10000520" "SNOMEDCT:402644006" + "UMLS:C4749580" + "MEDGEN:1659846" + "GARD:21083" + "Orphanet:280384" "MEDGEN:710723" "DOID:12168" "UMLS:C1288279" @@ -113224,6 +113224,7 @@ "MeSH:D056486" "UMLS:C0860207" "HMDB:0059784" + "PMID:25910207" "SCTID:277857004" "SCTID:277855007" "MA:0002650" @@ -113239,7 +113240,6 @@ "NCIT:C3513" "Orphanet:70482" "SCTID:372138000" - "PMID:25910207" "OMIM:614815" "MEDGEN:766672" "UMLS:C3553758" @@ -113541,8 +113541,6 @@ "OMIM:616684" "ICD10:G60.0" "PMID:28240269" - "NCIt:C7588" - "ICD10:D47" "MEDGEN:1731194" "UMLS:C5435765" "OMIM:500013" @@ -113551,6 +113549,8 @@ "UMLS:C0853394" "SCTID:423673009" "DOID:8427" + "NCIt:C7588" + "ICD10:D47" "PMID:26068415" "UMLS:C5680583" "Orphanet:183447" @@ -113717,8 +113717,8 @@ "MA:0000439" "EMAPA:37739" "Wikipedia:Segmental_bronchus" - "VHOG:0001446" "UMLS:C0444439" + "VHOG:0001446" "FMA:7407" "EHDAA:7064" "EHDAA:7043" @@ -113845,11 +113845,17 @@ "PMID:29875488" "ZFA:0000648" "PMID:35050183" - "SNOMEDCT_US:42341009" - "UMLS:C0001816" "MGI:2160001" "TGEMO:00042" + "SNOMEDCT_US:42341009" + "UMLS:C0001816" "PMID:33634981" + "UMLS:C4015184" + "MEDGEN:863621" + "Orphanet:445110" + "OMIM:616094" + "GARD:17769" + "DOID:0112381" "NCIT:C122789" "DOID:0050759" "OMIM:602668" @@ -113861,12 +113867,6 @@ "GARD:9728" "Orphanet:606" "MEDGEN:419137" - "UMLS:C4015184" - "MEDGEN:863621" - "Orphanet:445110" - "OMIM:616094" - "GARD:17769" - "DOID:0112381" "PMID:33634981" "SCTID:84209002" "ICD10CM:F44.0" @@ -114202,14 +114202,14 @@ "Orphanet:231537" "ICD10CM:E70.3" "GARD:18337" - "UMLS:C2677792" - "Orphanet:420741" - "OMIM:611943" "SCTID:47903000" "UMLS:C0042850" "MEDGEN:22669" "NCIT:C35129" "MESH:D014804" + "UMLS:C2677792" + "Orphanet:420741" + "OMIM:611943" "MeSH:D013277" "BTO:0001570" "CLO:0007641" @@ -114296,8 +114296,8 @@ "MEDGEN:1632060" "icd11.foundation:1325415519" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM25256&Product=CC" - "PMID:28240269" "ICD10:N46" + "PMID:28240269" "PMID:33634981" "FMA:75639" "EMAPA:17593" @@ -114351,7 +114351,6 @@ "Orphanet:391665" "ATCC:TIB-152" "PMID:35320353" - "PMID:23823483" "EV:0100055" "VHOG:0000120" "galen:Spleen" @@ -114373,6 +114372,7 @@ "BTO:0001281" "UMLS:C0037993" "EMAPA:18767" + "PMID:23823483" "GARD:10999" "Orphanet:280763" "MEDGEN:272542" @@ -114650,11 +114650,11 @@ "MEDGEN:1708513" "UMLS:C5394391" "OMIM:618886" - "NCIt:C147356" "OMIM:180750" "UMLS:C0175699" "OMIM:101400" "ICD10:Q87.0" + "NCIt:C147356" "NCIt:C71988" "SNOMEDCT:28140004" "PMID:31375628" @@ -114891,11 +114891,11 @@ "UMLS:C0748226" "MEDGEN:148185" "MESH:D020425" + "OMIM:612109" + "ICD10:Q87.8" "UMLS:C2677897" "OMIM:300750" "ICD10:G11.4" - "OMIM:612109" - "ICD10:Q87.8" "UMLS:C4023721" "PMID:30678657" "MEDGEN:1787923" @@ -114926,8 +114926,8 @@ "FMA:35175" "EFO:0001957" "ZFA:0000279" - "VHOG:0000559" "TAO:0000279" + "VHOG:0000559" "XAO:0000057" "AAO:0011086" "EMAPA:16752" @@ -114940,8 +114940,8 @@ "GARD:18693" "SCTID:716774008" "Orphanet:493" - "UMLS:C3275959" "MEDGEN:477590" + "UMLS:C3275959" "PMID:24816252" "SCTID:26135000" "MEDGEN:509177" @@ -115233,13 +115233,13 @@ "icd11.foundation:885383581" "Orphanet:83461" "ICD9:743.35" + "PMID:26068415" "MEDGEN:509791" "DOID:12311" "SCTID:55031000" "ICD9:371.12" "UMLS:C0155105" "MONDO:0006613" - "PMID:26068415" "PDBeChem:LEI" "PMID:22683336" "SNOMEDCT:387235007" @@ -115542,12 +115542,12 @@ "NCIt:C98912" "NCIT:C98912" "MONDO:0006726" - "PMID:20181287" "MeSH:D001194" "KEGG:C16442" "SNOMEDCT:16369005" "NCIt:C284" "CAS:1332-21-4" + "PMID:20181287" "Orphanet:576283" "OMIM:612313" "MEDGEN:436765" @@ -115855,8 +115855,6 @@ "ICD10:M62" "PMID:25353621" "PMID:35347128" - "OMIM:609541" - "ICD10:G11.4" "PMID:29875488" "PMID:29875488" "MeSH:D020945" @@ -115865,8 +115863,8 @@ "GARD:22575" "MEDGEN:934640" "OMIM:617188" - "PMID:24816252" - "PMID:22232676" + "OMIM:609541" + "ICD10:G11.4" "GARD:18017" "MEDGEN:1754121" "Orphanet:597733" @@ -115875,6 +115873,8 @@ "OMIM:619491" "MEDGEN:1794179" "UMLS:C5561969" + "PMID:24816252" + "PMID:22232676" "PMID:29875488" "PMID:35264221" "DOID:0070296" @@ -116014,13 +116014,6 @@ "PMID:29875488" "BTO:0003792" "RRID:CVCL_0473" - "MEDGEN:10658" - "ICD9:523.8" - "SCTID:2556008" - "MESH:D010510" - "NCIT:C63743" - "DOID:3388" - "UMLS:C0031090" "SCTID:764437006" "MEDGEN:396103" "Orphanet:1275" @@ -116028,12 +116021,19 @@ "MESH:C566090" "GARD:966" "UMLS:C1861313" + "MEDGEN:10658" + "ICD9:523.8" + "SCTID:2556008" + "MESH:D010510" + "NCIT:C63743" + "DOID:3388" + "UMLS:C0031090" "UMLS:C1836892" "MEDGEN:373202" "OMIM:609048" "NCIT:C27744" - "UMLS:C0270891" "DOID:3688" + "UMLS:C0270891" "ICD10:G54" "UMLS:C1335437" "MONDO:0024432" @@ -116315,8 +116315,8 @@ "NCIt:C377" "KEGG:D02132" "MeSH:D002981" - "SNOMEDCT:372786004" "Wikipedia:Clindamycin" + "SNOMEDCT:372786004" "PMID:18695329" "CAS:18323-44-9" "SNOMEDCT:58883005" @@ -116379,8 +116379,6 @@ "PMID:29875488" "PMID:29875488" "PMID:35322040" - "NCIT:C15330" - "ICD10:Z90.4" "Orphanet:93383" "SCTID:389168002" "MEDGEN:722046" @@ -116409,6 +116407,8 @@ "FMA:7197" "NCIT:C12392" "MA:0000358" + "NCIT:C15330" + "ICD10:Z90.4" "OMIM:164745" "GARD:3643" "MESH:C567664" @@ -116425,13 +116425,13 @@ "MEDGEN:277495" "MONDO:0006049" "SCTID:707411007" + "PMID:36168886" "UMLS:C4552294" "DOID:0080939" "Orphanet:528623" "MEDGEN:1812520" "OMIM:106100" "GARD:22194" - "PMID:36168886" "DOID:1703" "MEDGEN:91159" "SCTID:277550009" @@ -117517,8 +117517,8 @@ "UMLS:C1860616" "CLO:0026603" "FMA:23878" - "EMAPA:35150" "VSAO:0000181" + "EMAPA:35150" "MA:0003007" "SCTID:361827000" "ICD10:Q93.5" @@ -117573,8 +117573,8 @@ "PMID:34503513" "PMID:21963238" "PMID:35347128" - "EHDAA:8171" "EHDAA:8199" + "EHDAA:8171" "Wikipedia:Bronchiole" "MESH:D055745" "SCTID:278982001" @@ -117692,6 +117692,7 @@ "MEDGEN:1732975" "GARD:15350" "OMIM:602722" + "PMID:33634981" "SNOMEDCT:272784002" "SNOMEDCT:46293006" "KEGG:D00780" @@ -117699,7 +117700,6 @@ "Beilstein:6048116" "NCIt:C51181" "CAS:22260-51-1" - "PMID:33634981" "Orphanet:294927" "GARD:21180" "MEDGEN:1809253" @@ -117867,6 +117867,7 @@ "NCIt:C16342" "NCIT:C3360" "MESH:D012303" + "PMID:29875488" "UMLS:C1863225" "GARD:548" "OMIM:102800" @@ -117880,7 +117881,6 @@ "DOID:0070123" "Orphanet:90674" "GARD:10129" - "PMID:29875488" "NCIT:C36263" "MEDGEN:422475" "UMLS:C2939419" @@ -118705,8 +118705,8 @@ "UMLS:C0346181" "EFO:1000413" "SCTID:254870004" - "NCIT:C4515" "DOID:5550" + "NCIT:C4515" "MEDGEN:91089" "MONDO:0003507" "NCIt:C6041" @@ -118809,6 +118809,8 @@ "UMLS:C1838161" "MESH:C563942" "OMIM:600384" + "NCIt:C35021" + "MedDRA:10049128" "DOID:7061" "SCTID:277571004" "MONDO:0004947" @@ -118817,8 +118819,6 @@ "DOID:0080630" "UMLS:C1292769" "NCIT:C8936" - "NCIt:C35021" - "MedDRA:10049128" "EFO:0004251" "EFO:0002428" "SCTID:425333006" @@ -119240,8 +119240,6 @@ "MeSH:C538346" "OMIM:137200" "ICD10:G60.0" - "OMIM:212140" - "ICD10:E71.3" "SCTID:713609000" "MONDO:0006256" "NCIT:C9245" @@ -119251,6 +119249,8 @@ "MEDGEN:163435" "UMLS:C0037315" "SNOMEDCT_US:73430006" + "OMIM:212140" + "ICD10:E71.3" "TGEMO:00115" "MGI:2164899" "PMID:24816252" @@ -119425,6 +119425,10 @@ "Orphanet:96072" "UMLS:C0431691" "ICD10:Q60.3" + "UMLS:C0175703" + "OMIM:274000" + "MedDRA:10071719" + "ICD10:Q87.2" "icd11.foundation:578519098" "GARD:7004" "ONCOTREE:THME" @@ -119437,10 +119441,6 @@ "HP:0002865" "Orphanet:1332" "DOID:3973" - "UMLS:C0175703" - "OMIM:274000" - "MedDRA:10071719" - "ICD10:Q87.2" "PMID:29875488" "PMID:35995766" "UMLS:C5562003" @@ -119573,6 +119573,11 @@ "MeSH:C537409" "ICD10:D80.0" "OMIM:300310" + "MeSH:C537115" + "OMIM:151050" + "ICD10:Q87.1" + "UMLS:C0432269" + "PMID:29875488" "UMLS:C2936915" "MeSH:D006010" "MedDRA:10053250" @@ -119580,11 +119585,6 @@ "OMIM:232400" "UMLS:C0017922" "ICD10:E74.0" - "MeSH:C537115" - "OMIM:151050" - "ICD10:Q87.1" - "UMLS:C0432269" - "PMID:29875488" "CLO:0009834" "RRID:CVCL_2022" "NANDO:1200075" @@ -119740,13 +119740,13 @@ "ICD10:Q87.0" "UMLS:C1836450" "UMLS:C1857953" + "OMIM:618270" + "OMIM:610805" "SNOMEDCT:7093002" "ICD10:N23" "NCIt:C78593" "MeSH:D056844" "MedDRA:10038419" - "OMIM:618270" - "OMIM:610805" "ICD10:C03" "MEDGEN:57549" "MONDO:0005507" @@ -119801,12 +119801,12 @@ "MEDGEN:167105" "NORD:882" "DOID:0111581" + "PMID:28092692" "MedDRA:10068196" "ICD9:337.3" "ICD10:G90.4" "SNOMEDCT:129618003" "MeSH:D020211" - "PMID:28092692" "MEDGEN:1810214" "SCTID:764860006" "GARD:17767" @@ -119893,10 +119893,10 @@ "MEDGEN:934710" "Orphanet:497906" "UMLS:C4310743" - "PMID:35995766" "SNOMEDCT_US:16652001" "SNOMEDCT_US:124464003" "UMLS:C0002986" + "PMID:35995766" "UMLS:C0266456" "NCIT:C124517" "SCTID:52330001" @@ -120301,15 +120301,15 @@ "MEDGEN:685787" "OMIMPS:192500" "SCTID:442917000" - "NCIt:C35448" - "SNOMEDCT:45177002" - "MedDRA:10015967" "Orphanet:1000" "GARD:592" "OMIM:300650" "UMLS:C1845069" "MEDGEN:337149" "SCTID:722054007" + "NCIt:C35448" + "SNOMEDCT:45177002" + "MedDRA:10015967" "MONDO:0005972" "MESH:D011018" "SCTID:233607000" @@ -120536,6 +120536,7 @@ "GARD:17174" "Orphanet:238505" "NANDO:2200735" + "PMID:35347128" "NANDO:1200235" "NANDO:2201375" "DOID:4644" @@ -120551,7 +120552,6 @@ "ICD10CM:Q81.0" "NANDO:2201341" "UMLS:C0079298" - "PMID:35347128" "MESH:D007107" "UMLS:C0020962" "NCIT:C12735" @@ -120964,7 +120964,6 @@ "MedDRA:10026958" "PMID:29095316" "PMID:34315907" - "ICD10:Q93.5" "ICD9:624.6" "MEDGEN:124351" "NCIT:C3978" @@ -120976,6 +120975,7 @@ "ICD9:384.1" "MEDGEN:583089" "DOID:11217" + "ICD10:Q93.5" "UMLS:C0042162" "MEDGEN:52960" "NCIT:C3436" @@ -121414,16 +121414,16 @@ "UMLS:C1849554" "SCTID:45142002" "GARD:9900" - "UMLS:C4280613" - "SNOMEDCT_US:707598004" - "UMLS:C0024636" - "UMLS:C4280614" - "SNOMEDCT_US:47944004" "ICDO:8450/0" "MEDGEN:41386" "MESH:D018292" "UMLS:C0010636" "NCIT:C2974" + "UMLS:C4280613" + "SNOMEDCT_US:707598004" + "UMLS:C0024636" + "UMLS:C4280614" + "SNOMEDCT_US:47944004" "DOID:13575" "MEDGEN:845321" "ICD9:252.02" @@ -121783,13 +121783,18 @@ "PMID:35347128" "PMID:35995766" "PMID:35347128" - "PMID:23823483" "RGD:1359002" + "PMID:23823483" "MEDGEN:350942" "OMIM:603622" "DOID:0110548" "GARD:9726" "UMLS:C1863659" + "UMLS:C1846821" + "UMLS:C0005779" + "SNOMEDCT_US:64779008" + "UMLS:C0019087" + "SNOMEDCT_US:362970003" "DOID:9268" "NANDO:1200984" "OMIMPS:605899" @@ -121803,11 +121808,6 @@ "NCIT:C84937" "NANDO:2200476" "GARD:7219" - "UMLS:C1846821" - "UMLS:C0005779" - "SNOMEDCT_US:64779008" - "UMLS:C0019087" - "SNOMEDCT_US:362970003" "PMID:35347128" "MedDRA:10028527" "SCTID:16631009" @@ -121837,17 +121837,17 @@ "NANDO:1200519" "Chemspider:113376658" "LIPID_MAPS_instance:LMGP03020093" - "PMID:29875488" - "PMID:26038577" "UMLS:C1332193" "DOID:6018" "MEDGEN:231036" "NCIT:C27401" - "SNOMEDCT:76819007" - "NCIt:C81280" + "PMID:29875488" "RRID:CVCL_9631" "CLO:0022856" "PO:0004006" + "PMID:26038577" + "SNOMEDCT:76819007" + "NCIt:C81280" "UMLS:C2749864" "OMIM:612073" "Orphanet:1933" @@ -122169,10 +122169,10 @@ "OMIM:618853" "DOID:0080963" "UMLS:C5394289" - "PMID:29875488" "BTO:0000670" "RRID:CVCL_0374" "CLO:0007093" + "PMID:29875488" "UMLS:C1835813" "OMIM:610842" "SCTID:717941005" @@ -122384,14 +122384,14 @@ "PMID:29875488" "GARD:16531" "Orphanet:422" + "UMLS:C3180937" + "OMIM:615656" + "ICD10:Q93.5" "UMLS:C0265101" "ICD9:433.10" "SCTID:266254007" "MEDGEN:539079" "DOID:807" - "UMLS:C3180937" - "OMIM:615656" - "ICD10:Q93.5" "PMID: 26629530" "RRID:CVCL_IS01" "UMLS:C0040435" @@ -122459,6 +122459,13 @@ "ICD10CM:H54" "DOID:1432" "MESH:D001766" + "SCTID:127024001" + "MEDGEN:19326" + "GARD:21253" + "Orphanet:304055" + "ICD9:239.7" + "NCIT:C3330" + "UMLS:C0032019" "MEDGEN:91090" "SCTID:254872007" "UMLS:C0346183" @@ -122467,13 +122474,6 @@ "MONDO:0003581" "EFO:1000415" "NCIT:C8108" - "SCTID:127024001" - "MEDGEN:19326" - "GARD:21253" - "Orphanet:304055" - "ICD9:239.7" - "NCIT:C3330" - "UMLS:C0032019" "DOID:6888" "UMLS:C0577692" "NCIT:C4830" @@ -122585,8 +122585,6 @@ "EHDAA2:0000337" "EMAPA:16070" "EHDAA:218" - "NCIt:C35349" - "MedDRA:10054854" "SCTID:269476000" "UMLS:C1334633" "NCIT:C3457" @@ -122597,6 +122595,8 @@ "NCIT:C27910" "ICD9:202.0" "MONDO:0004949" + "NCIt:C35349" + "MedDRA:10054854" "UMLS:C1862170" "DOID:0111247" "OMIM:112410" @@ -122753,6 +122753,7 @@ "ICD9:286.3" "UMLS:C0398626" "ICD10:M89.2" + "PMID:29875488" "HP:0001704" "MESH:D014263" "MEDGEN:11912" @@ -122763,7 +122764,6 @@ "Orphanet:95458" "MONDO:0007001" "MeSH:D014263" - "PMID:29875488" "OMIM:614613" "MEDGEN:766164" "GARD:15823" @@ -122975,6 +122975,10 @@ "Orphanet:1136" "MEDGEN:108222" "SCTID:373587001" + "UMLS:C0268335" + "OMIM:130000" + "MeSH:C536194" + "ICD10:Q79.6" "RRID:CVCL_1624" "HAO:0000886" "MESH:D011679" @@ -122982,10 +122986,6 @@ "FBbt:00002953" "Wikipedia:Pupa" "EFO:0002684" - "UMLS:C0268335" - "OMIM:130000" - "MeSH:C536194" - "ICD10:Q79.6" "NCIT:C9019" "FMA:59790" "UMLS:C0030580" @@ -123456,14 +123456,14 @@ "ICD9:443.21" "SCTID:720626009" "OMIM:268130" + "NCIt:C1967" + "Wikipedia:Tyrosine-kinase_inhibitor" + "PMID:33634981" "OMIM:148050" "ICD10:Q87.8" "UMLS:C0220687" "MeSH:C537015" "MedDRA:10084411" - "NCIt:C1967" - "Wikipedia:Tyrosine-kinase_inhibitor" - "PMID:33634981" "MedDRA:10041552" "MeSH:D013119" "MedGen:893651" @@ -123560,8 +123560,8 @@ "SCTID:362029003" "EFO:0003491" "EMAPA:35186" - "ZFA:0000099" "FMA:242007" + "ZFA:0000099" "TAO:0000099" "VHOG:0001559" "CALOHA:TS-0122" @@ -123801,10 +123801,6 @@ "MEDGEN:113161" "UMLS:C0221289" "NCIT:C3829" - "MEDGEN:1804672" - "OMIM:619935" - "UMLS:C5677009" - "SNOMEDCT:17370001" "SCTID:445187004" "NORD:1926" "ORDO:81" @@ -123819,12 +123815,16 @@ "UMLS:C2609059" "MedDRA:10068801" "PMID:35347128" + "MEDGEN:1804672" + "OMIM:619935" + "UMLS:C5677009" + "SNOMEDCT:17370001" + "PMID:23823483" "GARD:20856" "MEDGEN:1841544" "UMLS:C5816684" "Orphanet:262682" "RGD:1578695" - "PMID:23823483" "MEDGEN:65960" "UMLS:C0238352" "NCIT:C7730" @@ -123869,11 +123869,11 @@ "PMID:34610981" "PMID:35888748" "PMID:30134952" - "PMID:29875488" "MEDGEN:754440" "UMLS:C2939445" "SCTID:92557009" "DOID:0050614" + "PMID:29875488" "DOID:11266" "MedDRA:10075020" "MeSH:D006480" @@ -124427,6 +124427,12 @@ "PMID:35347128" "OMIM:222470" "OMIM:614602" + "MeSH:D058497" + "ICD10:Q87.0" + "MedDRA:10080219" + "OMIM:617666" + "OMIM:617667" + "OMIM:219000" "SCTID:440422002" "NCIT:C7149" "MONDO:0005235" @@ -124434,12 +124440,10 @@ "UMLS:C1531608" "EFO:0003073" "DOID:9551" - "MeSH:D058497" - "ICD10:Q87.0" - "MedDRA:10080219" - "OMIM:617666" - "OMIM:617667" - "OMIM:219000" + "UMLS:C0796182" + "OMIM:603671" + "MeSH:C535657" + "ICD10:Q75.8" "PMID:33634981" "AAO:0000545" "UMLS:C0035561" @@ -124458,10 +124462,6 @@ "ZFA:0000538" "EMAPA:18010" "Wikipedia:Rib" - "UMLS:C0796182" - "OMIM:603671" - "MeSH:C535657" - "ICD10:Q75.8" "ICD9:078.89" "NCIT:C128418" "MESH:D007835" @@ -124501,7 +124501,6 @@ "SCTID:713277006" "Orphanet:447777" "UMLS:C1328407" - "PMID:29875488" "ICD9:350.1" "icd11.foundation:1803581281" "MedDRA:10044652" @@ -124519,6 +124518,7 @@ "MESH:D014277" "SCTID:31681005" "ICD10CM:G50.0" + "PMID:29875488" "ICD10:Q92.3" "MeSH:D014183" "MeSH:D064593" @@ -124670,12 +124670,12 @@ "ICD9:562.01" "UMLS:C0267502" "DOID:11223" + "PMID:29875488" + "PMID:28240269" "NCIT:C40305" "MEDGEN:384495" "UMLS:C2202743" "DOID:6339" - "PMID:29875488" - "PMID:28240269" "NCIt:C147359" "PMID:32321835" "NANDO:1200236" @@ -124791,7 +124791,6 @@ "OMIM:208000" "RRID:CVCL_M137" "NCIT:C36055" - "PMID:35347128" "VHOG:0000363" "MA:0001588" "BTO:0001315" @@ -124811,6 +124810,7 @@ "GARD:3530" "MEDGEN:336345" "MESH:C537448" + "PMID:35347128" "PMID:35347128" "PMID:29875488" "MESH:D011658" @@ -124925,8 +124925,8 @@ "HP:0001114" "MONDO:0005236" "NCIT:C4071" - "MO:565" "PMID:35347128" + "MO:565" "UMLS:C4021655" "Orphanet:98267" "GARD:19439" @@ -125638,6 +125638,13 @@ "Beilstein:3565084" "CiteXplore:18271925" "LINCS:LSM-2132" + "MEDGEN:934684" + "DOID:0080442" + "OMIM:617105" + "GARD:16190" + "UMLS:C4310717" + "UMLS:C0427149" + "SNOMEDCT_US:27253007" "MEDGEN:6795" "SCTID:23412002" "ICD9:423.0" @@ -125647,13 +125654,6 @@ "UMLS:C0019064" "HP:0011851" "MeSH:D010490" - "MEDGEN:934684" - "DOID:0080442" - "OMIM:617105" - "GARD:16190" - "UMLS:C4310717" - "UMLS:C0427149" - "SNOMEDCT_US:27253007" "OMIM:615235" "UMLS:C3808935" "DOID:0110438" @@ -125713,12 +125713,12 @@ "PMID:31367044" "MESH:D011387" "NCIt:C22729" + "UMLS:C2931364" + "MeSH:C536898" "MEDGEN:904751" "OMIM:616278" "DOID:0111066" "UMLS:C4225390" - "UMLS:C2931364" - "MeSH:C536898" "PMID:29875488" "DOID:10627" "MEDGEN:509897" @@ -125733,7 +125733,6 @@ "icd11.foundation:592246939" "GARD:20142" "PMID:35347128" - "PMID:24816252" "EHDAA2_RETIRED:0003154" "EFO:0000807" "SCTID:361692004" @@ -125759,6 +125758,7 @@ "XAO:0000176" "MESH:D034582" "MIAA:0000033" + "PMID:24816252" "Wikipedia:Color_blindness" "Orphanet:319691" "SNOMEDCT:51445007" @@ -125864,12 +125864,12 @@ "SCTID:726358004" "Orphanet:262687" "ICD10:Q93.5" + "PMID:28240269" "SCTID:363451005" "MEDGEN:509337" "UMLS:C0153599" "DOID:11839" "ICD9:187.2" - "PMID:28240269" "CAS:627-77-0" "PMID:18989563" "PMID:16082501" @@ -125899,9 +125899,9 @@ "MESH:D019337" "UMLS:CN242171" "Orphanet:466729" + "PMID:28194004" "UMLS:C0023316" "SNOMEDCT_US:65814009" - "PMID:28194004" "MeSH:D048373" "SNOMEDCT:4099006" "UMLS:C0432322" @@ -126597,6 +126597,7 @@ "UMLS:C1859305" "OMIM:212840" "MESH:C565870" + "FMA:24138" "EHDAA2:0000238" "EMAPA:17215" "BTO:0004148" @@ -126606,7 +126607,6 @@ "AAO:0000092" "SCTID:260488005" "UMLS:C0728985" - "FMA:24138" "DOID:60006" "MEDGEN:195779" "UMLS:C0685121" @@ -126666,6 +126666,7 @@ "AAO:0010372" "EFO:0003684" "XAO:0003179" + "PMID:29875488" "Reaxys:1727945" "PMID:23989918" "DrugBank:DB01727" @@ -126693,7 +126694,6 @@ "UMLS:C4755274" "GARD:17175" "MEDGEN:1668791" - "PMID:29875488" "Orphanet:3050" "NCIt:C76204" "SNOMEDCT:57522007" @@ -126704,13 +126704,13 @@ "MEDGEN:378348" "NCIT:C40318" "DOID:5286" - "PMID:29875488" - "PMID:26068415" "UMLS:C4020887" "UMLS:C0085636" "SNOMEDCT_US:246622003" "SNOMEDCT_US:409668002" "ZFA:0000692" + "PMID:26068415" + "PMID:29875488" "MEDGEN:1841563" "UMLS:C5680248" "Orphanet:96184" @@ -127753,9 +127753,9 @@ "MEDGEN:1615364" "ATCC:CRL-5891" "ICD10:Q93.5" + "PMID:24816252" "ICD10:D84.8" "OMIM:615387" - "PMID:24816252" "ZFA:0005010" "MeSH:D003004" "SNOMEDCT:36559008" @@ -128168,13 +128168,6 @@ "UMLS:C0342273" "HP:0008255" "MEDGEN:449530" - "EFO:0007360" - "SCTID:126550004" - "MESH:D008441" - "MEDGEN:44312" - "DOID:4618" - "UMLS:C0024954" - "MONDO:0005841" "UMLS:C2677535" "MESH:C567425" "Orphanet:157954" @@ -128182,6 +128175,13 @@ "GARD:16987" "MEDGEN:394313" "DOID:0112244" + "EFO:0007360" + "SCTID:126550004" + "MESH:D008441" + "MEDGEN:44312" + "DOID:4618" + "UMLS:C0024954" + "MONDO:0005841" "MESH:C564732" "DOID:0110846" "OMIM:278740" @@ -128206,15 +128206,15 @@ "KEGG COMPOUND:C11761" "OMIM:277000" "ICD10:Q51.8" - "MedDRA:10074473" - "MeSH:D019121" - "DOID:50377" "SCTID:231824001" "MEDGEN:137911" "NCIT:C4354" "UMLS:C0339107" - "PMID:35347128" + "MedDRA:10074473" + "MeSH:D019121" + "DOID:50377" "ZFA:0000726" + "PMID:35347128" "MEDGEN:1681582" "OMIM:618477" "UMLS:C4760647" @@ -128253,6 +128253,7 @@ "MEDGEN:1648355" "OMIM:618284" "PMID:29875488" + "PMID:35347128" "BTO:0003925" "SCTID:362214007" "Wikipedia:Renal_papilla" @@ -128263,7 +128264,6 @@ "MESH:D007679" "NCIT:C33460" "MA:0002730" - "PMID:35347128" "PMID:35347128" "Wikipedia:Photic_sneeze_reflex" "MeSH:C535300" @@ -128665,14 +128665,14 @@ "NCIT:C147005" "UMLS:C4687640" "MEDGEN:1633290" - "OMIM:611863" - "ICD10:Q15.8" "NCIt:C61863" "SNOMEDCT:257992007" "MeSH:D009584" "SNOMEDCT:36012007" "SNOMEDCT:257970008" "WebElements:N" + "OMIM:611863" + "ICD10:Q15.8" "OMIMPS:301108" "NCIt:C12803" "MeSH:D014129" @@ -128836,6 +128836,7 @@ "MESH:C538160" "Orphanet:2001" "MEDGEN:444135" + "PMID:36210801" "OMIM:261000" "GARD:3024" "MedDRA:10070440" @@ -128847,7 +128848,6 @@ "DOID:0050734" "UMLS:C1394891" "SCTID:34925000" - "PMID:36210801" "SNOMEDCT:5595000" "MeSH:D012485" "http://purl.obolibrary.org/obo/NCIT_C103446" @@ -128943,11 +128943,11 @@ "UMLS:C0013336" "MeSH:C022203" "PMID:28240269" - "PMID:34503513" "UMLS:C0745176" "MedDRA:10049705" "MEDGEN:1843489" "MONDO:0005174" + "PMID:34503513" "PMID:31791255" "MedDRA:10052986" "SNOMEDCT:37538009" @@ -129051,12 +129051,12 @@ "UMLS:C0156312" "SNOMEDCT_US:17585008" "VHOG:0001038" - "CALOHA:TS-0662" "EMAPA:17672" + "CALOHA:TS-0662" "BTO:0004480" "MA:0001865" - "NCIT:C49263" "EHDAA2:0001241" + "NCIT:C49263" "UMLS:C1179157" "FMA:62452" "EHDAA:7090" @@ -129541,6 +129541,13 @@ "SNOMEDCT_US:230690007" "UMLS:C0038454" "PMID:29875488" + "MEDGEN:384046" + "SCTID:239050000" + "GARD:2049" + "MESH:C565604" + "UMLS:C1857052" + "OMIM:225050" + "Orphanet:1882" "ICD9:309.89" "SCTID:17226007" "ICD9:309.9" @@ -129550,13 +129557,6 @@ "MEDGEN:1338" "MESH:D000275" "UMLS:C0001546" - "MEDGEN:384046" - "SCTID:239050000" - "GARD:2049" - "MESH:C565604" - "UMLS:C1857052" - "OMIM:225050" - "Orphanet:1882" "HMDB:HMDB0029423" "Reaxys:1724343" "FooDB:FDB000523" @@ -129916,14 +129916,14 @@ "UMLS:C0149978" "DOID:1996" "NCIT:C9383" + "MedDRA:10002545" + "ICD10:S93" + "ICD10:S91" "GARD:17882" "MEDGEN:1798941" "UMLS:C5567518" "Orphanet:486811" "OMIMPS:616866" - "MedDRA:10002545" - "ICD10:S93" - "ICD10:S91" "MEDGEN:317974" "UMLS:C1709308" "MONDO:0006327" @@ -130086,14 +130086,14 @@ "MEDGEN:324846" "OMIM:608641" "UMLS:C1837640" - "UMLS:C0796254" - "OMIM:304340" - "ICD10:Q23.8" "ICD9:353.1" "MEDGEN:509637" "DOID:13913" "UMLS:C0154735" "SCTID:4062006" + "UMLS:C0796254" + "OMIM:304340" + "ICD10:Q23.8" "SCTID:36118008" "DOID:1673" "MESH:D011030" @@ -130534,6 +130534,15 @@ "MESH:D007636" "NCIT:C3146" "ICDO:8071/1" + "PMID:33357513" + "GARD:21522" + "UMLS:C4707306" + "Orphanet:352587" + "MEDGEN:1640999" + "ICD9:447.8" + "Orphanet:315" + "GARD:1722" + "SCTID:239062001" "MedDRA:10029117" "MESH:D009393" "ICD9:583.7" @@ -130548,15 +130557,6 @@ "ICD10:N05" "ICD9:583.89" "ICD10:N12" - "PMID:33357513" - "GARD:21522" - "UMLS:C4707306" - "Orphanet:352587" - "MEDGEN:1640999" - "ICD9:447.8" - "Orphanet:315" - "GARD:1722" - "SCTID:239062001" "GARD:17101" "UMLS:C1970211" "MEDGEN:369682" @@ -131193,6 +131193,7 @@ "WebElements:Ca" "NCIt:C331" "PMID:33634981" + "PMID:29875488" "NCIt:C85545" "MeSH:D009163" "SNOMEDCT:27142009" @@ -131208,7 +131209,6 @@ "CAS:106-46-7" "PMID:23899931" "UM-BBD_compID:c0593" - "PMID:29875488" "PMID:29875488" "ICD10:Q87.8" "UMLS:C0265249" @@ -131464,11 +131464,11 @@ "RRID:CVCL_4056" "BTO:0002864" "CLO:0050113" - "UMLS:C0393541" - "ICD10:G12.1" "doi:10.1101/2021.11.19.21266436" "SNOMEDCT:80146002" "NCIT:C51687" + "UMLS:C0393541" + "ICD10:G12.1" "MeSH:D009855" "ICD9:125.3" "MESH:D009855" @@ -131633,10 +131633,12 @@ "Orphanet:391411" "GARD:17621" "MEDGEN:1380105" + "PMID:35347128" "NCIT:C53555" "MEDGEN:770986" "DOID:0080674" "UMLS:C3642346" + "PMID:33634981" "EMAPA:16982" "BIRNLEX:2564" "EFO:0003543" @@ -131651,8 +131653,10 @@ "EHDAA:6653" "TAO:0000588" "EHDAA2:0002196" - "PMID:35347128" - "PMID:33634981" + "MEDGEN:275296" + "DOID:2153" + "UMLS:C1518746" + "NCIT:C40443" "UMLS:C3495490" "MEDGEN:501193" "GARD:514" @@ -131661,10 +131665,6 @@ "OMIM:102520" "DOID:0060347" "MESH:C563159" - "MEDGEN:275296" - "DOID:2153" - "UMLS:C1518746" - "NCIT:C40443" "GAZ:00004474" "UMLS:C2749007" "GARD:15266" @@ -131747,17 +131747,17 @@ "DOID:0060456" "Orphanet:98967" "GARD:9277" + "OMIM:615583" + "GARD:12814" + "MEDGEN:816353" + "Orphanet:508488" + "UMLS:C3810023" "MedDRA:10037150" "UMLS:C0033847" "ICD10:Q82.8" "OMIM:177850" "OMIM:264800" "MeSH:D011561" - "OMIM:615583" - "GARD:12814" - "MEDGEN:816353" - "Orphanet:508488" - "UMLS:C3810023" "PMID:29875488" "PMID:31367044" "Orphanet:2149" @@ -131798,6 +131798,10 @@ "OMIM:617108" "MEDGEN:934681" "UMLS:C4310714" + "MEDGEN:863355" + "GARD:16044" + "OMIM:616001" + "UMLS:C4014918" "UMLS:C1840347" "OMIM:145981" "DOID:0060701" @@ -131805,10 +131809,6 @@ "GARD:9758" "Orphanet:101049" "MEDGEN:374447" - "MEDGEN:863355" - "GARD:16044" - "OMIM:616001" - "UMLS:C4014918" "PMID:29875488" "ZFA:0009335" "UMLS:C0795902" @@ -132337,6 +132337,7 @@ "NCIt:C62578" "MEDGEN:137987" "MONDO:0001956" + "PMID:35347128" "UMLS:C4025043" "MedDRA:10005166" "NCIT:C34431" @@ -132348,7 +132349,6 @@ "MEDGEN:600" "MeSH:D001765" "UMLS:C0005750" - "PMID:35347128" "NCIT:C12910" "Wikipedia:Mucosa-associated_lymphoid_tissue" "FMA:62819" @@ -132550,8 +132550,8 @@ "OMIM:616004" "HMDB:HMDB0008006" "LIPID_MAPS_instance:LMGP01010690" - "PMID:31530798" "SNOMEDCT:4983002" + "PMID:31530798" "Wikipedia:Virchow-Robin_space" "NCIT:C83196" "UMLS:C0225983" @@ -132726,8 +132726,8 @@ "NCIT:C34500" "MONDO:0005709" "MEDGEN:3179" - "PMID:29875488" "RRID:CVCL_S893" + "PMID:29875488" "DOID:3320" "NANDO:1200071" "NCIT:C85184" @@ -132860,7 +132860,6 @@ "MESH:C563324" "GARD:10352" "PMID:31659325" - "PMID:31600487" "MEDGEN:137784" "UMLS:C0334579" "NANDO:2200086" @@ -132879,6 +132878,7 @@ "MedDRA:10002224" "SNOMEDCT_US:161891005" "UMLS:C0004604" + "PMID:31600487" "UMLS:C1846170" "Orphanet:85274" "OMIM:300218" @@ -132964,6 +132964,7 @@ "DOID:9165" "ICD9:698.4" "SCTID:402736003" + "PMID:28240269" "NCIT:C4022" "ONCOTREE:ACRM" "DOID:6367" @@ -132972,7 +132973,6 @@ "HP:0012060" "MEDGEN:87530" "SCTID:254732008" - "PMID:28240269" "OMIM:617804" "UMLS:C4540496" "MEDGEN:1622162" @@ -133051,10 +133051,10 @@ "UMLS:C1969623" "OMIM:115080" "MeSH:C562490" - "PMID:35347128" "SNOMEDCT:45707005" "MeSH:D007779" "NCIt:C86474" + "PMID:35347128" "DOID:0060063" "SCTID:62677000" "OMIM:300751" @@ -133095,8 +133095,8 @@ "MESH:C566516" "OMIM:602596" "MEDGEN:355383" - "NCIt:C116204" "PMID:29875488" + "NCIt:C116204" "MEDGEN:1644708" "SCTID:766767001" "GARD:21698" @@ -133307,13 +133307,13 @@ "ICD9:799.9" "ICD10CM:T80-T88" "MESH:D007049" - "FMA:7133" - "BTO:0002483" "NCIT:C8178" "MEDGEN:124718" "EFO:1000260" "UMLS:C0280310" "MONDO:0006213" + "FMA:7133" + "BTO:0002483" "DOID:5302" "NCIT:C40139" "SNOMEDCT:396163008" @@ -133551,9 +133551,6 @@ "DOID:0050534" "OMIMPS:310500" "MESH:C536122" - "BTO:0001884" - "CLO:0007735" - "RRID:CVCL_0436" "UMLS:C1848873" "MESH:D001117" "ICD9:078.89" @@ -133561,6 +133558,9 @@ "MeSH:D001117" "SCTID:3303004" "MONDO:0005650" + "BTO:0001884" + "CLO:0007735" + "RRID:CVCL_0436" "PMID:33634981" "PMID:28738859" "UMLS:C4310656" @@ -134032,10 +134032,10 @@ "UMLS:C2673630" "GARD:15165" "PMID:29875488" - "PMID:35347128" "UMLS:C1263858" "ICD10:G71.2" "OMIM:607855" + "PMID:35347128" "SNOMEDCT_US:25762009" "UMLS:C0234502" "Orphanet:99810" @@ -134706,11 +134706,6 @@ "NCIt:C84633" "UMLS:C0008489" "PMID:28240269" - "MEDGEN:412163" - "GARD:21742" - "Orphanet:418951" - "UMLS:C2188058" - "NCIT:C27422" "MeSH:D002305" "ICD9:423.3" "MONDO:0001297" @@ -134725,6 +134720,11 @@ "ICD10CM:I31.4" "ICD10:I31.4" "MedDRA:10007610" + "MEDGEN:412163" + "GARD:21742" + "Orphanet:418951" + "UMLS:C2188058" + "NCIT:C27422" "NCIT:C2976" "SCTID:190681003" "GARD:6236" @@ -134797,8 +134797,8 @@ "EHDAA:8293" "Wikipedia:Gastrocnemius_muscle" "FMA:22541" - "EFO:0001413" "NCIT:C32666" + "EFO:0001413" "EHDAA2:0000701" "galen:Gastrocnemius" "VHOG:0001193" @@ -134949,9 +134949,6 @@ "Orphanet:98983" "MESH:C538285" "UMLS:C1861833" - "UMLS:C0268364" - "OMIM:248770" - "ICD10:Q87.8" "DOID:0050977" "SCTID:715824008" "Orphanet:101109" @@ -134960,6 +134957,9 @@ "UMLS:C1853249" "GARD:9951" "MESH:C537205" + "UMLS:C0268364" + "OMIM:248770" + "ICD10:Q87.8" "MedDRA:10002216" "SCTID:35001004" "PMID:28240269" @@ -135117,6 +135117,7 @@ "UMLS:C0553730" "ICD9:712.1" "PMID:37164013" + "PMID:29875488" "GARD:20109" "Orphanet:168966" "UMLS:C0545080" @@ -135132,7 +135133,6 @@ "UMLS:C0022658" "UMLS:C1408258" "MedDRA:10083870" - "PMID:29875488" "FMA:14582" "galen:WallOfStomach" "MA:0002692" @@ -135246,6 +135246,11 @@ "EC:3.2.1.35" "Reactome:R-HSA-2160892" "Reactome:R-HSA-1793209" + "UMLS:C0220686" + "OMIM:147800" + "MedDRA:10063429" + "ICD10:Q87.8" + "MeSH:C535332" "ICD9:788.1" "SNOMEDCT:49650001" "MedDRA:10013990" @@ -135253,11 +135258,6 @@ "NCIt:C2999" "MeSH:D053159" "PMID:36006120" - "UMLS:C0220686" - "OMIM:147800" - "MedDRA:10063429" - "ICD10:Q87.8" - "MeSH:C535332" "MeSH:D012553" "SCTID:236706006" "DOID:1394" @@ -135355,7 +135355,6 @@ "Orphanet:98569" "RRID:CVCL_D587" "ZFA:0001187" - "PMID:35347128" "GARD:12382" "Orphanet:168593" "MESH:C563856" @@ -135388,11 +135387,12 @@ "Orphanet:488618" "OMIM:617044" "GARD:17894" - "PMID:23823483" + "PMID:35347128" "OMIM:620439" "Orphanet:652487" "MEDGEN:1841248" "UMLS:C5830612" + "PMID:23823483" "OMIM:614371" "UMLS:C3280582" "MEDGEN:482212" @@ -135440,15 +135440,15 @@ "HP:0000639" "OMIMPS:310700" "ICD10CM:H55.01" - "OMIM:217080" - "UMLS:C2931074" - "ICD10:H35.5" "GARD:3682" "MEDGEN:343245" "UMLS:C1855033" "MESH:C537476" "Orphanet:2597" "OMIM:251950" + "OMIM:217080" + "UMLS:C2931074" + "ICD10:H35.5" "Orphanet:85458" "GARD:10266" "NCIT:C84625" @@ -135662,7 +135662,6 @@ "MEDGEN:90148" "UMLS:C0302327" "DOID:7614" - "PMID:36006120" "UMLS:C5436466" "OMIM:618952" "MEDGEN:1752252" @@ -135695,6 +135694,7 @@ "SCTID:362244005" "MESH:D001472" "NCIt:C35869" + "PMID:36006120" "PMID:34814699" "PMID:31530798" "UMLS:C5679984" @@ -135735,7 +135735,6 @@ "UMLS:C0152459" "SNOMEDCT_US:201066002" "MEDDRA:10040925" - "ICD10:N04.0" "HMDB:HMDB0000197" "DrugBank:DB07950" "Beilstein:143358" @@ -135757,6 +135756,7 @@ "SNOMEDCT:71532005" "NIST Chemistry WebBook:87-51-4" "ChEMBL:234915" + "ICD10:N04.0" "NCIT:C3200" "UMLS:C0024121" "MEDGEN:7400" @@ -136015,13 +136015,13 @@ "ICD10CM:C68.0" "DOID:734" "OMIM:614303" + "DOID:8481" "NCIT:C35202" "MEDGEN:56370" "UMLS:C0155557" "ICD9:391.9" "SCTID:195136004" "ICD9:398.0" - "DOID:8481" "PMID:23364568" "MEDGEN:C0002768" "PMID:92193" @@ -136473,9 +136473,9 @@ "PMID:30053915" "PMID:28204635" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03175&Product=CC" - "UMLS:C0855323" - "PMID:34982741" "PMID:29875488" + "PMID:34982741" + "UMLS:C0855323" "ICD10:E77.8" "OMIM:212065" "PMID:23823483" @@ -136526,13 +136526,13 @@ "Wikipedia:Precentral_gyrus" "NCIt:C74895" "SNOMEDCT:76609004" + "T3DB:T3D0966" "ICD9:170.9" "UMLS:C0855052" "DOID:3357" "NCIT:C8810" "SCTID:404077005" "MEDGEN:163186" - "T3DB:T3D0966" "MO:792" "PMID:1737356" "PMID:24816252" @@ -136626,13 +136626,13 @@ "MEDGEN:274490" "NCIT:C40099" "DOID:5598" + "ICD10:D50.8" + "OMIM:206200" "MEDGEN:4336" "NCIT:C34546" "ICD9:032.3" "SCTID:50215002" "UMLS:C0012557" - "ICD10:D50.8" - "OMIM:206200" "Orphanet:536467" "GARD:15947" "UMLS:C3809210" @@ -136684,7 +136684,6 @@ "EFO:0003425" "ZFA:0000086" "TAO:0000086" - "PMID:35050183" "MeSH:D016808" "SCTID:26132002" "MEDGEN:82814" @@ -136695,6 +136694,7 @@ "UMLS:C0268525" "GARD:5681" "Orphanet:33572" + "PMID:35050183" "PMID:28240269" "UMLS:C4025276" "Orphanet:352636" @@ -136741,6 +136741,8 @@ "NCIT:C4935" "EFO:1000300" "UMLS:C0745216" + "TGEMO:00050" + "MGI:2160604" "OMIM:301030" "MEDGEN:930741" "DOID:0111840" @@ -136750,8 +136752,6 @@ "UMLS:C4305072" "SNOMEDCT:115015008" "NCIt:C86632" - "TGEMO:00050" - "MGI:2160604" "MeSH:C001803" "PMID:29875488" "MEDGEN:338570" @@ -137069,6 +137069,7 @@ "SCTID:26468004" "ICD10CM:H35.82" "PMID:28240269" + "PMID:30659259" "UMLS:C0041178" "CALOHA:TS-1070" "Wikipedia:Trophoblast" @@ -137079,7 +137080,6 @@ "NCIT:C93292" "BTO:0001079" "EV:0100120" - "PMID:30659259" "MESH:D010899" "Orphanet:95613" "SNOMEDCT:237701005" @@ -137257,12 +137257,12 @@ "MeSH:C538135" "ICD10:Q87.8" "OMIM:301815" - "MONDO:0005621" - "MESH:D020214" "Orphanet:231242" "MEDGEN:526128" "UMLS:C0221020" "GARD:20608" + "MONDO:0005621" + "MESH:D020214" "OMIMPS:277400" "GARD:3579" "Orphanet:26" @@ -137270,10 +137270,10 @@ "FMA:54975" "Wikipedia:Tubal_tonsil" "SCTID:143319002" + "Wikipedia:Gestation" "RRID:CVCL_0025" "CLO:0002172" "BTO:0000195" - "Wikipedia:Gestation" "NANDO:2200365" "Orphanet:99763" "MEDGEN:332019" @@ -137518,6 +137518,10 @@ "DOID:0111199" "MEDGEN:1662655" "PMID:34814699" + "MEDGEN:1842685" + "GARD:21222" + "Orphanet:295219" + "UMLS:C5679985" "Beilstein:1910407" "PMID:22264337" "Reaxys:1910407" @@ -137533,10 +137537,6 @@ "NIST Chemistry WebBook:150-30-1" "KEGG:C02057" "Gmelin:50836" - "MEDGEN:1842685" - "GARD:21222" - "Orphanet:295219" - "UMLS:C5679985" "UMLS:C0344616" "NANDO:2200259" "NANDO:1200699" @@ -137629,7 +137629,6 @@ "PMID:29875488" "SNOMEDCT_US:80825009" "UMLS:C0265783" - "ICD10:N04.3" "DOID:11285" "SCTID:74225001" "MedDRA:10077336" @@ -137648,6 +137647,7 @@ "PMID:24186868" "KEGG:C00338" "PMID:24506665" + "ICD10:N04.3" "DOID:217" "ICD9:521.01" "MEDGEN:540214" @@ -137919,13 +137919,13 @@ "GARD:19325" "Orphanet:96126" "MEDGEN:1683031" + "SNOMEDCT:260782005" "UMLS:C0279651" "NCIT:C9166" "EFO:1000262" "DOID:3500" "MEDGEN:76009" "MONDO:0006215" - "SNOMEDCT:260782005" "SNOMEDCT:13182002" "CALOHA:TS-2341" "FMA:18252" @@ -138106,11 +138106,6 @@ "UMLS:C2930954" "PMID:35347128" "PMID:35347128" - "UMLS:C4014557" - "OMIM:615883" - "GARD:16026" - "DOID:0080686" - "MEDGEN:862994" "UMLS:C0003864" "MONDO:0005578" "DOID:848" @@ -138124,6 +138119,11 @@ "NCIt:C2883" "Wikipedia:Arthritis" "MeSH:D001168" + "UMLS:C4014557" + "OMIM:615883" + "GARD:16026" + "DOID:0080686" + "MEDGEN:862994" "PMID:29875488" "PMID:2474544" "NCIT:C27682" @@ -138373,7 +138373,6 @@ "EFO:1000431" "ONCOTREE:SCCO" "UMLS:C2212006" - "CMO:0000369" "KEGG DRUG:D00283" "PMID:18766167" "Beilstein:0764984" @@ -138413,6 +138412,7 @@ "PMID:35585492" "Beilstein:3589159" "MetaCyc:4-hydroxybenzoate" + "CMO:0000369" "ATC_code:B" "Orphanet:171860" "NCIt:C66774" @@ -138459,6 +138459,7 @@ "UMLS:C2936741" "MeSH:D007713" "ICD10:Q98.8" + "ICD10:D82.8" "UMLS:C1370889" "EFO:0000736" "ICDO:8851/3" @@ -138469,8 +138470,6 @@ "NCIT:C4250" "ONCOTREE:WDLS" "GARD:19721" - "ICD10:D82.8" - "OMIM:200170" "ZFA:0001321" "OMIM:620186" "MEDGEN:1824056" @@ -138484,17 +138483,18 @@ "NCIT:C3296" "UMLS:C0029440" "MONDO:0005166" + "OMIM:200170" "NCIT:C5964" "UMLS:C1334556" "MONDO:0006069" "DOID:6276" "MEDGEN:233657" "EFO:1000067" - "PMID:35347128" "UMLS:C0023221" "SNOMEDCT_US:45939007" "SNOMEDCT:250346004" "NCIt:C64606" + "PMID:35347128" "NCIT:C8196" "ICD10:M31.2" "MeSH:D006103" @@ -138581,8 +138581,8 @@ "PMID:8622117" "PMID:25296102" "MeSH:D000583" - "KEGG:C06820" "PMID:20195673" + "KEGG:C06820" "PMID:25630642" "Beilstein:5915117" "DrugBank:DB00479" @@ -138687,12 +138687,12 @@ "MEDGEN:98047" "SCTID:240063002" "NCIT:C126691" - "PMID:29875488" "PMID:31530798" "MEDGEN:349821" "UMLS:C1860446" "GARD:21218" "Orphanet:295203" + "PMID:29875488" "UMLS:C0334540" "ICDO:9142/0" "DOID:470" @@ -138755,9 +138755,6 @@ "MEDGEN:78892" "PMID:35050183" "PMID:28240269" - "EC:3.5.1.52" - "MetaCyc:3.5.1.52-RXN" - "Reactome:R-HSA-8850594" "NANDO:1200874" "DOID:13481" "UMLS:C0039743" @@ -138770,6 +138767,9 @@ "SCTID:29352008" "GARD:85" "ICD9:259.4" + "EC:3.5.1.52" + "MetaCyc:3.5.1.52-RXN" + "Reactome:R-HSA-8850594" "PMID:23823483" "BTO:0000834" "RRID:CVCL_1171" @@ -139228,28 +139228,17 @@ "BTO:0005964" "PMID:29875488" "ZFA:0005168" + "SCTID:272023004" "NCIT:C32281" "FMA:17544" - "SCTID:272023004" "Wikipedia:Central_veins_of_liver" "TAO:0005168" - "OMIM:614023" - "ICD10:E72.8" "MESH:C563321" "MEDGEN:318614" "OMIM:601412" "UMLS:C1832379" "DOID:0110591" "GARD:18106" - "UMLS:C0344760" - "ICD10CM:Q23.2" - "Orphanet:1205" - "HP:0011560" - "MEDGEN:91035" - "GARD:3685" - "icd11.foundation:6462604" - "NCIT:C98992" - "SCTID:23063005" "OMIM:520000" "UMLS:C0342289" "SCTID:237619009" @@ -139259,6 +139248,17 @@ "MESH:C536246" "GARD:4003" "Orphanet:225" + "OMIM:614023" + "ICD10:E72.8" + "UMLS:C0344760" + "ICD10CM:Q23.2" + "Orphanet:1205" + "HP:0011560" + "MEDGEN:91035" + "GARD:3685" + "icd11.foundation:6462604" + "NCIT:C98992" + "SCTID:23063005" "GARD:16820" "MEDGEN:1374044" "Orphanet:93398" @@ -139575,7 +139575,6 @@ "GARD:18912" "OMIM:607371" "ICD10:Q87.8" - "PMID:29875488" "OMIM:602613" "MESH:C566514" "MEDGEN:400685" @@ -139585,6 +139584,7 @@ "DOID:270" "MEDGEN:87522" "NCIT:C4437" + "PMID:29875488" "HMDB:HMDB0012102" "Reaxys:25968936" "LIPID_MAPS_instance:LMSP03010005" @@ -140141,11 +140141,11 @@ "Orphanet:391497" "GARD:21624" "UMLS:C5680023" - "PMID:35347128" "GARD:16235" "OMIM:617561" "UMLS:C4479654" "MEDGEN:1386939" + "PMID:35347128" "MEDGEN:510253" "DOID:1284" "ICD9:618.8" @@ -140385,17 +140385,17 @@ "UMLS:C3715199" "MEDGEN:811626" "GARD:18431" + "MAT:0000006" + "PO:0009013" + "BTO:0000852" + "MeSH:D018519" + "UMLS:C1836440" "UMLS:C0020655" "DOID:1931" "MEDGEN:6988" "SCTID:399100005" "MESH:D007027" "ICD9:253.9" - "MAT:0000006" - "PO:0009013" - "BTO:0000852" - "MeSH:D018519" - "UMLS:C1836440" "OMIM:615425" "OMIM:601001" "ICD10:Q81.0" @@ -140483,14 +140483,14 @@ "UMLS:C0010051" "ZFA:0001244" "PMID:29875488" + "BTO:0003619" + "RRID:CVCL_C190" + "CLO:0009378" "MESH:D015434" "FMA:74315" "MA:0000473" "EMAPA:35829" "BTO:0004042" - "BTO:0003619" - "RRID:CVCL_C190" - "CLO:0009378" "ZFA:0001356" "UMLS:C0016045" "MESH:D005350" @@ -140866,7 +140866,6 @@ "OMIM:308960" "ICD9:208.0" "MEDGEN:43225" - "RRID:CVCL_8607" "ICD10CM:D72.823" "MedDRA:10024373" "ICD10:D72.823" @@ -140879,6 +140878,7 @@ "SCTID:56478004" "MONDO:0006829" "ICD9:288.62" + "RRID:CVCL_8607" "MEDGEN:1842714" "UMLS:C5679914" "GARD:17573" @@ -140949,6 +140949,7 @@ "BTO:0002976" "Reaxys:4383181" "Beilstein:4383181" + "HMDB:0039133" "GARD:3957" "Orphanet:35069" "DOID:0110735" @@ -140960,8 +140961,6 @@ "NCIT:C84927" "ICD9:330.8" "MEDGEN:82852" - "HMDB:0039133" - "PMID:26212336" "MEDGEN:137837" "UMLS:C0338113" "EFO:0002914" @@ -140975,6 +140974,7 @@ "MONDO:0005210" "DOID:5165" "GARD:20476" + "PMID:26212336" "EHDAA:127" "EHDAA:152" "VHOG:0000683" @@ -141228,8 +141228,8 @@ "SCTID:422833009" "UMLS:C0279751" "NCIT:C8026" - "PMID:28240269" "PMID:24816252" + "PMID:28240269" "UMLS:C4025279" "UMLS:C0935626" "AEO:0000094" @@ -141465,10 +141465,10 @@ "NANDO:2200501" "Orphanet:25" "DOID:0111254" - "PMID:29875488" "UMLS:C1839783" "UMLS:C4280583" "UMLS:C4280584" + "PMID:29875488" "KEGG COMPOUND:C00666" "HMDB:0001370" "OMIM:612292" @@ -141586,7 +141586,6 @@ "SCTID:702448007" "Orphanet:98806" "DOID:0090039" - "UMLS:C1514580" "ZFA:0005290" "EMAPA:28287" "TAO:0005290" @@ -141597,6 +141596,7 @@ "MA:0001669" "NCIT:C33417" "FMA:17693" + "UMLS:C1514580" "UMLS:C0334499" "NCIT:C8978" "DOID:2700" @@ -142114,7 +142114,6 @@ "GARD:4694" "MEDGEN:440664" "PMID:35347128" - "PMID:34850884" "Wikipedia:Cleavage_(embryo)" "BilaDO:0000006" "ZFS:0000046" @@ -142127,6 +142126,7 @@ "MmusDv:0000004" "EFO:0001290" "FBdv:00000054" + "PMID:34850884" "MedDRA:10066254" "ICDO:9381/3" "NCIT:C4318" @@ -142147,13 +142147,13 @@ "BTO:0001885" "CLO:0007736" "RRID:CVCL_1418" + "PMID:33409738" "MEDGEN:410064" "MESH:C567043" "OMIM:610965" "DOID:0060590" "NCIT:C173111" "UMLS:C1970416" - "PMID:33409738" "Wikipedia:Explosive_material" "SCTID:722763000" "MEDGEN:1814585" @@ -142586,12 +142586,12 @@ "MEDGEN:1810936" "Orphanet:79085" "RRID:CVCL_6230" + "PMID:35347128" "MEDGEN:766913" "UMLS:C3553999" "GARD:15873" "OMIM:614882" "DOID:0080484" - "PMID:35347128" "RRID:CVCL_D316" "DOID:10488" "NORD:1299" @@ -142603,6 +142603,7 @@ "UMLS:C0003466" "SCTID:204731006" "NCIT:C84784" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03342&Product=CC" "GTR:AN0543890" "SCTID:80660001" "MEDGEN:526123" @@ -142610,7 +142611,6 @@ "ICD9:258.1" "UMLS:C0221005" "GTR:AN0543843" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03342&Product=CC" "PMID:29875488" "PMID:29875488" "UMLS:C0014130" @@ -142646,11 +142646,11 @@ "MeSH:D023921" "NCIt:C80427" "SNOMEDCT:251030009" - "SNOMEDCT:60649002" - "MeSH:D010974" "MEDGEN:1648327" "OMIM:618092" "UMLS:C4748152" + "SNOMEDCT:60649002" + "MeSH:D010974" "UMLS:C3278384" "DOID:0112263" "MEDGEN:480014" @@ -142660,11 +142660,11 @@ "MEDGEN:328032" "UMLS:C1710095" "NCIT:C54293" + "MEDGEN:138064" "DOID:6438" "SCTID:255021005" "UMLS:C0346388" "NCIT:C4561" - "MEDGEN:138064" "PMID:37253714" "PMID:29875488" "PMID:35347128" @@ -142678,8 +142678,8 @@ "MedDRA:10084711" "NCIt:C4726" "PMID:35347128" - "UMLS:C0022782" "MedDRA:10024394" + "UMLS:C0022782" "ICD10:N48.0" "ICD9:607.0" "MeSH:D052798" @@ -142705,10 +142705,10 @@ "ICD10CM:C25.4" "UMLS:C4022908" "UMLS:C4020727" + "PMID:36168886" "OMIM:618973" "UMLS:C5436520" "MEDGEN:1771692" - "PMID:36168886" "DOID:0060136" "MEDGEN:91072" "SCTID:254713002" @@ -142812,12 +142812,12 @@ "SCTID:763792009" "MESH:C535889" "GARD:9759" - "MONDO:0006389" "UMLS:C1335518" "MEDGEN:233356" "EFO:1000498" "NCIT:C5522" "DOID:3252" + "MONDO:0006389" "NCIt:C12717" "BTO:0001284" "MESH:C535849" @@ -142868,8 +142868,8 @@ "UMLS:C5436934" "OMIM:619167" "GARD:16430" - "PMID:31530798" "PMID:29875488" + "PMID:31530798" "NCIT:C34474" "ICD9:523.10" "UMLS:C0008684" @@ -142934,8 +142934,8 @@ "CAS:50-76-0" "Drug_Central:774" "Beilstein:4173766" - "KEGG:D00214" "LINCS:LSM-5783" + "KEGG:D00214" "UMLS:C4020861" "UMLS:C1839797" "PMID:24816252" @@ -143136,11 +143136,6 @@ "MEDGEN:1806298" "UMLS:C5676945" "OMIM:619799" - "MEDGEN:272546" - "DOID:3923" - "NCIT:C6504" - "UMLS:C1333298" - "MONDO:0006539" "UMLS:C0268596" "Orphanet:26791" "GARD:6523" @@ -143157,6 +143152,11 @@ "ONCOTREE:VYST" "DOID:1910" "MEDGEN:234985" + "MEDGEN:272546" + "DOID:3923" + "NCIT:C6504" + "UMLS:C1333298" + "MONDO:0006539" "OMIM:301029" "PMID:24510096" "NCIT:C26891" @@ -143330,10 +143330,10 @@ "UMLS:C1333456" "ICD10:Q82" "PMID:35347128" - "PMID:29875488" "RRID:CVCL_1697" "BTO:0004216" "CLO:0009031" + "PMID:29875488" "DOID:4921" "UMLS:C1334577" "MONDO:0005506" @@ -143825,13 +143825,13 @@ "ICD9:190.8" "UMLS:C0496836" "PMID:24816252" + "PMID:19325077" "CLO:0004283" "BTO:0000182" "RRID:CVCL_0320" "NCIt:C71877" "MeSH:D014902" "SNOMEDCT:57311007" - "PMID:19325077" "OMIM:608462" "OMIM:142623" "OMIM:600156" @@ -144271,8 +144271,8 @@ "MedDRA:10036794" "MeSH:D011371" "ICD10:E34.8" - "SNOMEDCT:42236003" "PMID:35347128" + "SNOMEDCT:42236003" "SCTID:433068007" "MONDO:0005396" "NCIt:C27001" @@ -144293,13 +144293,13 @@ "MA:0001809" "EMAPA:37584" "MA:0001810" + "PMID:33634981" "UMLS:C5203410" "Orphanet:221016" "GARD:17135" "OMIM:268400" "NCIT:C178827" "MEDGEN:1684753" - "PMID:33634981" "PMID:25147954" "UMLS:C1306663" "MEDGEN:727129" @@ -144361,13 +144361,6 @@ "OMIM:225320" "MEDGEN:929458" "GARD:12613" - "Orphanet:83617" - "UMLS:C1864848" - "OMIM:610483" - "MEDGEN:351236" - "SCTID:722281001" - "MESH:C538055" - "GARD:10011" "UMLS:C1840235" "MESH:C537342" "MEDGEN:326686" @@ -144375,6 +144368,13 @@ "GARD:4877" "Orphanet:2286" "OMIM:147250" + "Orphanet:83617" + "UMLS:C1864848" + "OMIM:610483" + "MEDGEN:351236" + "SCTID:722281001" + "MESH:C538055" + "GARD:10011" "UMLS:C4225341" "GARD:16103" "MEDGEN:904244" @@ -144773,12 +144773,12 @@ "SCTID:724090001" "GARD:3959" "Orphanet:2676" - "UMLS:C4275146" - "Orphanet:1434" - "MEDGEN:896081" "MEDGEN:747221" "UMLS:C2316319" "SCTID:430886005" + "UMLS:C4275146" + "Orphanet:1434" + "MEDGEN:896081" "PMID:29875488" "Orphanet:96321" "SCTID:72991005" @@ -144873,10 +144873,6 @@ "MEDGEN:1842369" "Orphanet:100979" "PMID:28240269" - "MedDRA:10041137" - "MedDRA:10041135" - "MP:0002989" - "ICD10:N27" "NORD:1009" "NCIT:C75016" "OMIMPS:122470" @@ -144888,6 +144884,10 @@ "MEDGEN:78752" "DOID:11725" "NANDO:2200958" + "MedDRA:10041137" + "MedDRA:10041135" + "MP:0002989" + "ICD10:N27" "PMID:24816252" "GARD:19266" "ICD10CM:Q23" @@ -144919,6 +144919,7 @@ "MA:0002501" "PMID:28240269" "PMID:33204752" + "PMID:23823483" "PMID:25092597" "Reaxys:3629989" "KNApSAcK:C00000185" @@ -144931,7 +144932,6 @@ "PMID:25700090" "HMDB:HMDB0034423" "PMID:23823483" - "PMID:23823483" "NCIt:C12314" "BTO:0000907" "MedDRA:10066435" @@ -145297,17 +145297,17 @@ "ONCOTREE:SDCA" "MEDGEN:220969" "PMID:36168886" + "ICD10:D81.2" + "PMID:24248345" + "PMID:30586455" "GARD:17313" "DOID:0080060" "MEDGEN:482082" "UMLS:C3280452" "OMIM:614322" "Orphanet:284282" - "ICD10:D81.2" "SNOMEDCT:25510005" "MeSH:D006350" - "PMID:24248345" - "PMID:30586455" "UMLS:C1859198" "Orphanet:99948" "MESH:C535419" @@ -145773,11 +145773,11 @@ "Beilstein:1098492" "Gmelin:25997" "Orphanet:98657" - "UMLS:C1710112" "MONDO:0006421" "EFO:1000538" "MEDGEN:328036" "NCIT:C43552" + "UMLS:C1710112" "GARD:17372" "OMIM:614495" "MEDGEN:483335" @@ -146063,8 +146063,8 @@ "EMAPA:17963" "MA:0001711" "FMA:18629" - "SCTID:258308007" "EHDAA:8126" + "SCTID:258308007" "UMLS:C0227875" "BTO:0004483" "Wikipedia:Germinal_epithelium_(female)" @@ -146248,6 +146248,9 @@ "UMLS:C3272399" "MEDGEN:474032" "ONCOTREE:SWDNET" + "UMLS:C0432261" + "OMIM:611497" + "ICD10:Q78.2" "DECIPHER:17" "MESH:D058495" "NANDO:2200953" @@ -146264,9 +146267,6 @@ "NCIT:C75019" "NORD:1727" "GARD:10091" - "UMLS:C0432261" - "OMIM:611497" - "ICD10:Q78.2" "MONDO:0003155" "UMLS:C0018920" "ICDO:9121/0" @@ -146860,6 +146860,8 @@ "SCTID:718632004" "PMID:31172493" "PMID:33717105" + "MeSH:C536664" + "UMLS:C1832200" "MA:0000925" "FMA:61884" "PMID:18348718" @@ -146871,8 +146873,6 @@ "DOID:0070162" "NORD:1237" "MEDGEN:5645" - "MeSH:C536664" - "UMLS:C1832200" "EFO:0002613" "NCIT:C35873" "MEDGEN:235203" @@ -146903,12 +146903,12 @@ "MeSH:D018347" "DOID:5497" "PMID:29875488" - "ICD10:R86" - "UMLS:C4025899" - "ICD10:Q55" "UMLS:C0151746" "UMLS:C1848822" "SNOMEDCT_US:39539005" + "ICD10:R86" + "UMLS:C4025899" + "ICD10:Q55" "MeSH:D016839" "MESH:C537719" "GARD:6951" @@ -147422,9 +147422,9 @@ "OMIM:615418" "NCIT:C129977" "DOID:0080335" + "PMID:29875488" "PMID:29875488" "MeSH:D007249" - "PMID:29875488" "MEDGEN:234294" "UMLS:C1333756" "DOID:4057" @@ -147756,6 +147756,15 @@ "DOID:0050730" "GARD:20134" "Orphanet:172976" + "SCTID:363352004" + "ICD9:154.2" + "UMLS:C0153445" + "DOID:0050688" + "MEDGEN:509296" + "UMLS:C4692584" + "OMIM:248400" + "MEDGEN:1632207" + "MESH:C565420" "MEDGEN:2918" "GARD:19727" "MESH:D002422" @@ -147768,15 +147777,6 @@ "MONDO:0020572" "NCIT:C121572" "MeSH:D002422" - "SCTID:363352004" - "ICD9:154.2" - "UMLS:C0153445" - "DOID:0050688" - "MEDGEN:509296" - "UMLS:C4692584" - "OMIM:248400" - "MEDGEN:1632207" - "MESH:C565420" "DOID:4059" "NCIT:C5236" "UMLS:C1335176" @@ -147981,8 +147981,8 @@ "UMLS:C0158698 (URINARY TRACT ANOMALY)" "UMLS:C4021821" "ICD10:R39" - "PMID:31530798" "PMID:28360221" + "PMID:31530798" "MEDGEN:767507" "OMIM:615147" "GARD:17529" @@ -148105,11 +148105,11 @@ "MONDO:0021223" "MESH:D005770" "NCIT:C3052" + "ICD10:Q87.8" "SNOMEDCT:48694002" "MeSH:D001007" "MedDRA:10002855" "NCIt:C26696" - "ICD10:Q87.8" "PMID:28240269" "GARD:19089" "UMLS:C4303588" @@ -148292,17 +148292,17 @@ "MESH:C567034" "UMLS:C1970269" "icd11.foundation:809856670" - "PMID:29875488" - "OMIMPS:203655" "SNOMEDCT:112113009" "NCIt:C2289" "MeSH:D012739" + "OMIMPS:203655" + "PMID:29875488" + "ICD10:R19" + "ICD10:Q45" "BTO:0001547" "PO:0009031" "NCIt:C79669" "MAT:0000355" - "ICD10:R19" - "ICD10:Q45" "SCTID:448015002" "UMLS:C0346049" "ONCOTREE:DF" @@ -148416,6 +148416,7 @@ "DOID:2870" "EFO:0005232" "UMLS:C1153706" + "PMID:26121980" "MESH:C567290" "Orphanet:250994" "DECIPHER:67" @@ -148424,7 +148425,6 @@ "MEDGEN:382715" "UMLS:C2675891" "GARD:10591" - "PMID:26121980" "Orphanet:98258" "UMLS:C5681523" "MEDGEN:1826124" @@ -148508,12 +148508,12 @@ "NCIT:C116812" "SCTID:70572005" "UMLS:C0153252" + "PMID:21586637" "GARD:19556" "MedDRA:10061080" "Orphanet:98724" "MEDGEN:798768" "UMLS:C0948632" - "PMID:21586637" "icd11.foundation:443229384" "ICD9:335.19" "Orphanet:83420" @@ -148785,9 +148785,9 @@ "DOID:14041" "MESH:D014383" "UMLS:C0041310" + "MeSH:D014383" "MONDO:0006743" "MEDGEN:52884" - "MeSH:D014383" "TAO:0005253" "ZFA:0005253" "FMA:74272" @@ -149900,9 +149900,9 @@ "UMLS:C4225208" "NCIt:C51812" "UMLS:C0311237" - "Wikipedia:Spindle_apparatus" "OMIM:616280" "ICD10:G60.0" + "Wikipedia:Spindle_apparatus" "Beilstein:3536580" "PDBeChem:IMD" "Gmelin:122674" @@ -150164,8 +150164,8 @@ "CAS:58-39-9" "KEGG COMPOUND:58-39-9" "Beilstein:54730" - "KEGG COMPOUND:C07427" "NIST Chemistry WebBook:58-39-9" + "KEGG COMPOUND:C07427" "Reaxys:54730" "KEGG:D00503" "PMID:26660173" @@ -150292,6 +150292,7 @@ "Orphanet:217046" "UMLS:C3808107" "MESH:C566955" + "HMDB:0002250" "UMLS:C0242292" "MEDGEN:69164" "NORD:1413" @@ -150304,7 +150305,6 @@ "MESH:D005359" "DOID:1858" "Orphanet:562" - "HMDB:0002250" "MedDRA:10063526" "MONDO:0001252" "SCTID:57777000" @@ -150362,6 +150362,7 @@ "UMLS:C0008523" "MEDGEN:3059" "NCIT:C2949" + "PMID:32641083" "SCTID:71908006" "NANDO:2200227" "MeSH:D014693" @@ -150376,7 +150377,6 @@ "UMLS:C0042510" "NCIt:C50799" "MEDGEN:21844" - "PMID:32641083" "UMLS:C0000737" "NCIt:C26682" "MEDDRA:10000081" @@ -150510,8 +150510,8 @@ "Orphanet:228000" "DOID:0111987" "GARD:12375" - "PMID:31832568" "MO:726" + "PMID:31832568" "PMID:26087016" "UMLS:C5561927" "MEDGEN:1794137" @@ -150586,6 +150586,7 @@ "ZFA:0000822" "PubChem:496" "KEGG COMPOUND:C01029" + "NCIt:C39945" "UMLS:C4746631" "GARD:3324" "MedDRA:10027138" @@ -150596,7 +150597,6 @@ "SCTID:230325003" "DOID:0070213" "OMIM:153200" - "NCIt:C39945" "PMID:34503513" "NCIt:C86294" "SNOMEDCT:41468005" @@ -150825,7 +150825,6 @@ "MeSH:C537558" "ICD10:Q78.0" "PMID:27111506" - "Patent:US3644355" "CAS:27314-13-2" "Patent:BE712832" "PPDB:486" @@ -150836,6 +150835,7 @@ "PDBeChem:NRF" "PMID:16659463" "PMID:26735720" + "Patent:US3644355" "PMID:32393786" "PMID:35347128" "UMLS:C4022906" @@ -151166,14 +151166,6 @@ "MedDRA:10063042" "Orphanet:587" "DOID:0050465" - "MedDRA:10063573" - "ICD9:985.0" - "Orphanet:330021" - "SCTID:85180002" - "MONDO:0018020" - "MESH:D008630" - "MeSH:D020262" - "GARD:7021" "MeSH:D008579" "DOID:3565" "MESH:D011471" @@ -151183,6 +151175,14 @@ "SCTID:399068003" "DOID:10283" "MEDGEN:138169" + "MedDRA:10063573" + "ICD9:985.0" + "Orphanet:330021" + "SCTID:85180002" + "MONDO:0018020" + "MESH:D008630" + "MeSH:D020262" + "GARD:7021" "MEDGEN:376661" "OMIM:262020" "GARD:277" @@ -151453,8 +151453,8 @@ "CAS:5154-02-9" "LINCS:LSM-6689" "ICD9CM:007.1" - "MeSH:D005873" "MONDO:0001103" + "MeSH:D005873" "DOID:10718" "SNOMEDCT:58265007" "SCTID:10679007" @@ -151588,13 +151588,13 @@ "MESH:C536210" "UMLS:C0234518" "SNOMEDCT_US:289195008" - "UMLS:C0268296" - "OMIM:264300" - "ICD10:E29.1" "UMLS:C0008519" "SNOMEDCT_US:417338002" "SNOMEDCT_US:416286003" "SNOMEDCT_US:128490007" + "UMLS:C0268296" + "OMIM:264300" + "ICD10:E29.1" "MEDDRA:10002512" "SNOMEDCT_US:14662005" "UMLS:C0003028" @@ -151689,10 +151689,10 @@ "UMLS:C0029454" "SNOMEDCT_US:1926006" "SNOMEDCT_US:367489004" - "MeSH:D056830" - "PMID:29875488" "OMIM:126550" "ICD10:M85.8" + "MeSH:D056830" + "PMID:29875488" "PMID:24816252" "UMLS:C5568766" "Orphanet:528084" @@ -152016,7 +152016,6 @@ "MONDO:0006556" "DOID:3158" "PMID:33634981" - "RRID:CVCL_2458" "DOID:14753" "Orphanet:33" "NORD:712" @@ -152030,6 +152029,7 @@ "OMIM:243500" "UMLS:C0268575" "GARD:465" + "RRID:CVCL_2458" "UMLS:C2677109" "MEDGEN:383026" "MESH:C567390" @@ -152080,8 +152080,8 @@ "TAO:0000279" "UMLS:C0227518" "Wikipedia:Lobules_of_liver" - "NCIT:C32732" "SCTID:362194004" + "NCIT:C32732" "MA:0002494" "EMAPA:35499" "FMA:14471" @@ -152370,6 +152370,14 @@ "PMID:28240269" "UMLS:C0553681" "SNOMEDCT_US:234457009" + "SCTID:126865007" + "EFO:1001100" + "MESH:D010534" + "MONDO:0006901" + "NCIT:C3322" + "UMLS:C0031149" + "MedDRA:10061344" + "MEDGEN:18392" "NANDO:1200110" "Orphanet:583" "MEDGEN:44514" @@ -152386,14 +152394,6 @@ "DOID:12800" "GARD:7095" "MESH:D009087" - "SCTID:126865007" - "EFO:1001100" - "MESH:D010534" - "MONDO:0006901" - "NCIT:C3322" - "UMLS:C0031149" - "MedDRA:10061344" - "MEDGEN:18392" "OMIM:252920" "ICD10:E76.2" "OMIM:614299" @@ -152508,7 +152508,6 @@ "UMLS:C0752355" "SCTID:715788001" "GARD:4064" - "ICD10:Q69.2" "Orphanet:1547" "MEDGEN:377678" "GARD:8174" @@ -152516,18 +152515,19 @@ "SCTID:725096002" "UMLS:C1852454" "OMIM:123560" - "PMID:35347128" - "PMID:29251981" + "ICD10:Q69.2" "NCIT:C6637" "DOID:5560" "UMLS:C1334669" "MEDGEN:233171" + "PMID:29251981" "GARD:16657" "EFO:0003424" "ZFA:0000063" "TAO:0000063" - "PMID:36168886" + "PMID:35347128" "PMID:28369058" + "PMID:36168886" "PMID:30134952" "DOID:0060006" "DOID:0090012" @@ -152537,8 +152537,8 @@ "OMIM:602450" "MEDGEN:355454" "SCTID:715982006" - "PMID:29875488" "DOID:0110003" + "PMID:29875488" "SCTID:50189006" "NCIT:C131633" "UMLS:C0015530" @@ -153027,6 +153027,7 @@ "DOID:0111235" "GARD:15927" "NIFSTD:birnlex_152" + "PMID:23823483" "ICD9:121.8" "MESH:D004011" "MedDRA:10080485" @@ -153036,7 +153037,6 @@ "SCTID:105668007" "UMLS:C0012102" "DOID:1219" - "PMID:23823483" "FMA:58634" "NCIt:C12760" "MeSH:D009898" @@ -153078,8 +153078,6 @@ "PMID:14645985" "Orphanet:295053" "ICD10:Q87.0" - "ICD10:D81.2" - "OMIM:608971" "SCTID:33559001" "MEDGEN:78783" "MESH:D056731" @@ -153092,10 +153090,13 @@ "OMIM:262190" "MedDRA:10055608" "MeSH:D006450" + "ICD10:D81.2" + "OMIM:608971" "SNOMEDCT:123973009" "MeSH:D009011" "ICD10:S52.27" "PMID:29875488" + "MedDRA:10044055" "DOID:0111956" "UMLS:C4014863" "Orphanet:319581" @@ -153106,7 +153107,6 @@ "MEDGEN:1798905" "UMLS:C5567482" "NCIT:C131504" - "MedDRA:10044055" "UMLS:C3150901" "SCTID:763367009" "GARD:17378" @@ -153506,7 +153506,6 @@ "OMIM:214800" "DOID:0050834" "MEDGEN:75567" - "EFO:0000799" "BTO:0001492" "VSAO:0000075" "FBbt:00007000" @@ -153524,6 +153523,7 @@ "BILA:0000018" "MAT:0000023" "CARO:0010003" + "EFO:0000799" "UMLS:C0241816" "UMLS:C0018179" "SNOMEDCT_US:45283008" @@ -154086,8 +154086,8 @@ "UMLS:C0282207" "MedDRA:10062907" "OMIM:175500" - "MeSH:D014286" "PMID:29875488" + "MeSH:D014286" "PMID:30476138" "CMO:0000257" "PMID:37164013" @@ -154530,13 +154530,13 @@ "MEDGEN:930922" "OMIM:616000" "GARD:13056" - "MEDGEN:1843486" - "UMLS:C0541403" "KEGG COMPOUND:C00326" "NCIt:C16642" "MeSH:D006023" "KEGG:C00326" "SNOMEDCT:59804006" + "MEDGEN:1843486" + "UMLS:C0541403" "PMID:37596262" "ICD9:712" "SCTID:18834007" @@ -155146,6 +155146,8 @@ "SNOMEDCT:53413005" "UMLS:C0264906" "SNOMEDCT_US:195042002" + "OMIM:130020" + "ICD10:Q79.6" "NANDO:2200178" "DOID:5200" "MONDO:0003330" @@ -155159,8 +155161,6 @@ "ICD9:599.6" "MEDGEN:64247" "ICD9:599.60" - "OMIM:130020" - "ICD10:Q79.6" "OMIM:601553" "UMLS:C1832162" "ICD10:Q84.0" @@ -155241,6 +155241,7 @@ "UMLS:C5394226" "OMIM:618830" "MEDGEN:1717195" + "DOID:0080684" "PMID:31367044" "ICD10:E88.1" "OMIM:613327" @@ -155516,9 +155517,9 @@ "Orphanet:268940" "MEDGEN:1647593" "UMLS:C1836767" - "PMID:28240269" "FMA:84382" "BTO:0001678" + "PMID:28240269" "HMDB:HMDB0029010" "Reaxys:5527167" "PMID:29875488" @@ -155871,6 +155872,8 @@ "PMID:33634981" "PubChem:150929" "CAS:51267-44-8" + "PMID:33441150" + "Wikipedia:Calcitriol" "MetaCyc:CPD-15252" "PMID:22917079" "PMID:22391806" @@ -155889,8 +155892,6 @@ "PMID:23450347" "PMID:22160928" "PMID:22076633" - "PMID:33441150" - "Wikipedia:Calcitriol" "UMLS:C1851996" "MedDRA:10081775" "OMIM:612921" @@ -156341,9 +156342,9 @@ "NCIT:C94379" "ICD10WHO:F22.0" "DOID:778" + "Orphanet:99878" "UMLS:C4025655" "ICD10:R82" - "Orphanet:99878" "icd11.foundation:1211141166" "MEDGEN:8633" "ICD9:360.19" @@ -156461,9 +156462,6 @@ "OMIM:268400" "MeSH:D011038" "ICD10:Q82.8" - "ICD10:Q76.4" - "MeSH:C537238" - "UMLS:C2931453" "PMID:8437507" "LIPID_MAPS_instance:LMST05020003" "HMDB:HMDB0002580" @@ -156474,6 +156472,9 @@ "Reaxys:9174999" "KEGG:C03642" "Beilstein:9174999" + "ICD10:Q76.4" + "MeSH:C537238" + "UMLS:C2931453" "MedDRA:10052464" "GARD:17011" "Orphanet:165805" @@ -156508,14 +156509,14 @@ "SCTID:766708008" "GARD:19579" "MEDGEN:1640451" - "UMLS:CN227073" - "Orphanet:268322" "UMLS:C1518729" "MEDGEN:309514" "NCIT:C40031" "DOID:5474" "MONDO:0006340" "EFO:1000428" + "UMLS:CN227073" + "Orphanet:268322" "ICD10:Q87.1" "ICD9:363.22" "NORD:1829" @@ -156573,7 +156574,6 @@ "ICD9:009.2" "MESH:D004403" "HMDB:0035068" - "PMID:29875488" "PMID:22077885" "CiteXplore:19551996" "PMID:19888908" @@ -156602,6 +156602,7 @@ "UMLS:C4072823" "UMLS:C0221356" "SNOMEDCT_US:13649004" + "PMID:29875488" "UMLS:C3150412" "MEDGEN:461762" "DOID:0112378" @@ -156673,14 +156674,14 @@ "DOID:2855" "OMIM:615999" "PMID:29875488" + "UMLS:C1333118" + "MEDGEN:234165" + "NCIT:C5675" "CAS:10066-90-7" "Reaxys:3331457" "PMID:12831506" "Beilstein:6457132" "PMID:24401842" - "UMLS:C1333118" - "MEDGEN:234165" - "NCIT:C5675" "UMLS:C2931676" "OMIM:239840" "MONDO:0006128" @@ -156714,8 +156715,6 @@ "ICD9:210.4" "NCIT:C4411" "MEDGEN:87508" - "Orphanet:459056" - "OMIM:616680" "OMIM:602473" "DOID:0060640" "MEDGEN:355966" @@ -156724,6 +156723,8 @@ "GARD:2198" "Orphanet:51188" "UMLS:C1865349" + "Orphanet:459056" + "OMIM:616680" "PMID:29875488" "GARD:17347" "Orphanet:293910" @@ -156833,7 +156834,6 @@ "MEDGEN:462793" "UMLS:C3151443" "NCIt:C61154" - "PMID:29237677" "NCIT:C4286" "MEDGEN:1652407" "DOID:5563" @@ -156841,6 +156841,7 @@ "NCIT:C4287" "NCIT:C8884" "OMIM:620501" + "PMID:29237677" "ICD10:E70.1" "OMIM:261640" "OMIM:264070" @@ -156958,8 +156959,8 @@ "MESH:D002759" "ICDO:8160/0" "SCTID:424091006" - "MEDGEN:918" "DOID:5381" + "MEDGEN:918" "EFO:1000123" "OMIM:617762" "MESH:C563209" @@ -156990,13 +156991,13 @@ "KEGG:D00235" "Gmelin:2179742" "Beilstein:2739235" - "UMLS:C0474802" - "NCIT:C4743" - "MEDGEN:96885" "GARD:22231" "Orphanet:543470" "MEDGEN:1807322" "UMLS:C5681321" + "UMLS:C0474802" + "NCIT:C4743" + "MEDGEN:96885" "UMLS:C5193124" "OMIM:618493" "MEDGEN:1672905" @@ -157338,8 +157339,8 @@ "KEGG:C02537" "Chemspider:61840" "CAS:57-91-0" - "HMDB:HMDB0000429" "PMID:15947006" + "HMDB:HMDB0000429" "PMID:20451236" "MetaCyc:CPD-351" "KEGG:D07121" @@ -157474,8 +157475,8 @@ "NCIt:C12427" "OMIM:161000" "ICD10:Q82.4" - "PMID:28369058" "PMID:29875488" + "PMID:28369058" "PMID:28240269" "NCIT:C6389" "DOID:3445" @@ -158025,15 +158026,15 @@ "GARD:0007236" "SNOMEDCT:19464000" "NCIt:C86199" + "PMID:37164013" + "PMID:29875488" "MEDGEN:234123" "DOID:6386" "NCIT:C6216" "UMLS:C1332950" - "PMID:37164013" "UMLS:C0262444" "SNOMEDCT_US:422775003" "UMLS:C0040427" - "PMID:29875488" "DOID:0070249" "MESH:C567831" "MEDGEN:414476" @@ -158221,11 +158222,6 @@ "MEDGEN:1651269" "Orphanet:276280" "UMLS:C4749904" - "PMID:36451823" - "Orphanet:352530" - "GARD:21521" - "UMLS:C4706414" - "MEDGEN:1644787" "ICD9:093.1" "MeSH:D013589" "SNOMEDCT:20735004" @@ -158237,6 +158233,11 @@ "ICD10:A52.02" "MONDO:0006992" "UMLS:C0003511" + "PMID:36451823" + "Orphanet:352530" + "GARD:21521" + "UMLS:C4706414" + "MEDGEN:1644787" "UMLS:C0151798" "SNOMEDCT_US:87248009" "Wikipedia:Vitamin_D" @@ -158468,9 +158469,9 @@ "MEDGEN:259599" "NANDO:2200369" "SCTID:15689008" + "RRID:CVCL_6771" "MeSH:D004756" "DOID:50360" - "RRID:CVCL_6771" "NCIt:C642" "SNOMEDCT:68887009" "Patent:US2512572" @@ -158876,15 +158877,15 @@ "DOID:0050436" "UMLS:C0524582" "ICD9:759.89" - "Reaxys:10227786" "PMID:29875488" + "NCIt:C26938" + "MedDRA:10016667" + "Reaxys:10227786" "UMLS:C0686615" "SCTID:92408009" "MEDGEN:146355" "NCIT:C4902" "ICD9:211.9" - "NCIt:C26938" - "MedDRA:10016667" "MedDRA:10033266" "MEDGEN:38966" "DOID:5425" @@ -159033,11 +159034,6 @@ "MONDO:0006321" "MEDGEN:313501" "UMLS:C1709240" - "ONCOTREE:TMN" - "EFO:1000575" - "ICDO:9920/3" - "MONDO:0006450" - "NCIT:C27912" "ZFS:0000019" "NORD:1684" "GARD:5887" @@ -159050,6 +159046,11 @@ "UMLS:C0265326" "MEDGEN:78554" "PMID:35264221" + "ONCOTREE:TMN" + "EFO:1000575" + "ICDO:9920/3" + "MONDO:0006450" + "NCIT:C27912" "OMIM:618787" "GARD:18154" "UMLS:C5394080" @@ -159555,8 +159556,8 @@ "PMID:35050183" "CLO:0008876" "RRID:CVCL_1664" - "PMID:29875488" "PMID:33597508" + "PMID:29875488" "PMID:27634217" "MEDGEN:863578" "UMLS:C4015141" @@ -159620,13 +159621,13 @@ "UMLS:C5829571" "MEDGEN:1840207" "OMIM:301108" + "PMID:29875488" "PMID:24816252" "MEDGEN:422476" "UMLS:C2939420" "ICDO:8000/6" "MONDO:0024883" "NCIT:C3261" - "PMID:29875488" "PMID:27376770" "HP:0011419" "ICD9:641.20" @@ -159855,13 +159856,13 @@ "ICD9:756.9" "Orphanet:56304" "ICD10CM:Q77.5" - "UMLS:C0016663" - "SNOMEDCT_US:268029009" - "SNOMEDCT_US:22640007" "MeSH:C535380" "ICD10:Q12.1" "OMIM:301830" "UMLS:C1844934" + "UMLS:C0016663" + "SNOMEDCT_US:268029009" + "SNOMEDCT_US:22640007" "MEDGEN:107937" "SCTID:307219002" "NCIT:C4832" @@ -160013,6 +160014,12 @@ "OMIM:613780" "GARD:15706" "UMLS:C1833145" + "MESH:C563561" + "OMIM:158590" + "MEDGEN:322471" + "DOID:0111208" + "UMLS:C1834692" + "GARD:18262" "OMIM:601927" "MEDGEN:383042" "SCTID:721978002" @@ -160021,12 +160028,6 @@ "MESH:C567398" "UMLS:C2677167" "Orphanet:86915" - "MESH:C563561" - "OMIM:158590" - "MEDGEN:322471" - "DOID:0111208" - "UMLS:C1834692" - "GARD:18262" "OMIM:236792" "ICD10:E72.8" "Orphanet:34587" @@ -160387,7 +160388,6 @@ "Wikipedia:Ventral_tegmental_area" "BIRNLEX:1415" "MESH:D017557" - "PMID:23823483" "UMLS:C1859690" "MESH:C537560" "Orphanet:2848" @@ -160397,6 +160397,7 @@ "MONDO:0008828" "GARD:306" "MedDRA:10083494" + "PMID:23823483" "PMID:35347128" "UMLS:C0015310" "SNOMEDCT_US:399054005" @@ -160459,6 +160460,7 @@ "UMLS:C2932679" "GARD:10693" "MESH:C548034" + "PMID:29875488" "MESH:C565686" "MEDGEN:341812" "OMIM:216800" @@ -160466,7 +160468,6 @@ "Orphanet:91494" "GARD:16802" "SCTID:722463001" - "PMID:29875488" "NCIt:C86267" "MeSH:D041041" "SNOMEDCT:114264004" @@ -160701,9 +160702,9 @@ "HMDB:HMDB0000244" "NCIt:C72267" "PMID:29875488" + "PMID:37253714" "PMID:30476138" "NCIt:C64810" - "PMID:37253714" "SCTID:77098009" "MESH:D011546" "GARD:21861" @@ -160804,7 +160805,6 @@ "NCIt:C67311" "PMID:37596262" "PMID:32641083" - "PMID:24816252" "SCTID:726707004" "DECIPHER:43" "MEDGEN:347562" @@ -160814,6 +160814,7 @@ "Orphanet:96121" "MESH:C565723" "OMIM:609757" + "PMID:24816252" "MA:0003165" "SCTID:181746004" "BTO:0005281"