format-version: 1.2 data-version: releases/2024-11-01/doid.obo date: 01:11:2024 13:07 saved-by: lschriml subsetdef: DO_AGR_slim "DO_AGR_slim" subsetdef: DO_cancer_slim "DO_cancer_slim" subsetdef: DO_CFDE_slim "DO_CFDE_slim" subsetdef: DO_childhood_cancer_slim "DO_childhood_cancer_slim" subsetdef: DO_FlyBase_slim "DO_FlyBase_slim" subsetdef: DO_GXD_slim "DO_GXD_slim" subsetdef: DO_IEDB_slim "DO_IEDB_slim" subsetdef: DO_infectious_disease_slim "DO_infectious_disease_slim" subsetdef: DO_MGI_slim "DO_MGI_slim" subsetdef: DO_RAD_slim "DO_RAD_slim" subsetdef: DO_rare_slim "DO_rare_slim" subsetdef: GOLD "GOLD" subsetdef: gram-negative_bacterial_infectious_disease "gram-negative_bacterial_infectious_disease" subsetdef: gram-positive_bacterial_infectious_disease "gram-positive_bacterial_infectious_disease" subsetdef: NCIthesaurus "NCIthesaurus" subsetdef: sexually_transmitted_infectious_disease "sexually_transmitted_infectious_disease" subsetdef: tick-borne_infectious_disease "tick-borne_infectious_disease" subsetdef: TopNodes_DOcancerslim "TopNodes_DOcancerslim" subsetdef: zoonotic_infectious_disease "zoonotic_infectious_disease" synonymtypedef: OMO:0003012 "acronym" default-namespace: disease_ontology remark: The Disease Ontology content is available via the Creative Commons Public Domain Dedication CC0 1.0 Universal license (https://creativecommons.org/publicdomain/zero/1.0/). ontology: doid property_value: http://purl.org/dc/elements/1.1/description "The Disease Ontology has been developed as a standardized ontology for human disease with the purpose of providing the biomedical community with consistent, reusable and sustainable descriptions of human disease terms, phenotype characteristics and related medical vocabulary disease concepts." xsd:string property_value: http://purl.org/dc/elements/1.1/title "Human Disease Ontology" xsd:string property_value: http://purl.org/dc/terms/license https://creativecommons.org/publicdomain/zero/1.0/ property_value: IAO:0000700 DOID:4 property_value: owl:versionInfo "2024-11-01" xsd:string [Term] id: DOID:0001816 name: angiosarcoma alt_id: DOID:267 alt_id: DOID:4508 def: "A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels." [url:http\://en.wikipedia.org/wiki/Hemangiosarcoma, url:https\://en.wikipedia.org/wiki/Angiosarcoma, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3088, url:https\://www.ncbi.nlm.nih.gov/pubmed/23327728] subset: DO_cancer_slim subset: NCIthesaurus synonym: "hemangiosarcoma" EXACT [] xref: ICDO:9120/3 xref: MESH:D006394 xref: NCI:C3088 xref: NCI:C9275 xref: SNOMEDCT_US_2023_03_01:39000009 xref: UMLS_CUI:C0018923 xref: UMLS_CUI:C0854893 is_a: DOID:175 ! vascular cancer [Term] id: DOID:0002116 name: pterygium def: "A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation." [url:https\://en.wikipedia.org/wiki/Pterygium_(conjunctiva)] synonym: "surfer's eye" EXACT [] xref: UMLS_CUI:C0033999 is_a: DOID:10124 ! corneal disease created_by: laronhughes creation_date: 2010-06-30T02:44:30Z [Term] id: DOID:0014667 name: disease of metabolism def: "A disease that involving errors in metabolic processes of building or degradation of molecules." [url:http\://www.ncbi.nlm.nih.gov/books/NBK22259/] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: NCIthesaurus synonym: "metabolic disease" EXACT [] xref: ICD10CM:E88.9 xref: ICD9CM:277.9 xref: MESH:D008659 xref: NCI:C3235 xref: SNOMEDCT_US_2023_03_01:75934005 xref: UMLS_CUI:C0025517 is_a: DOID:4 ! disease [Term] id: DOID:0040001 name: shrimp allergy def: "A crustacean allergy that has_allergic_trigger shrimp." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20471069] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:0060524 ! crustacean allergy [Term] id: DOID:0040002 name: aspirin allergy def: "A drug allergy that has_allergic_trigger acetylsalicylic acid." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2468301] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "acetylsalicylic acid allergy" EXACT [] synonym: "ASA allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:293586001 xref: UMLS_CUI:C0004058 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040003 name: benzylpenicillin allergy def: "A beta-lactam allergy that has_allergic_trigger benzylpenicillin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14483916] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "benzyl penicillin allergy" EXACT [] synonym: "penicillin G allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:294499007 xref: UMLS_CUI:C0571411 is_a: DOID:0060519 ! beta-lactam allergy [Term] id: DOID:0040004 name: amoxicillin allergy def: "A beta-lactam allergy that has_allergic_trigger amoxicillin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11746950] {comment="IEDB:RV"} subset: DO_IEDB_slim xref: SNOMEDCT_US_2023_03_01:294505008 xref: UMLS_CUI:C0571417 is_a: DOID:0060519 ! beta-lactam allergy [Term] id: DOID:0040005 name: ceftriaxone allergy def: "A cephalosporin allergy that has_allergic_trigger ceftriaxone." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12833570] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "rocephin allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:294551009 xref: UMLS_CUI:C0571463 is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040006 name: carbamazepine allergy def: "A drug allergy that has_allergic_trigger carbamazepine." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7602118] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "carbamazepen allergy" EXACT [] synonym: "Tegretol allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:293867002 xref: UMLS_CUI:C0570787 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040007 name: abacavir allergy def: "A drug allergy that has_allergic_trigger abacavir." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25674793] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "ABC allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040008 name: isoniazide allergy def: "A drug allergy that has_allergic_trigger isoniazide." [url:https\://www.ncbi.nlm.nih.gov/pubmed/445303] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "INH allergy" EXACT [] synonym: "isonicotinylhydrazide allergy" EXACT [] xref: ICD10CM:Z88.1 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040009 name: lidocaine allergy def: "A drug allergy that has_allergic_trigger lidocaine." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9013953] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Lidoderm allergy" EXACT [] synonym: "lignocaine allergy" EXACT [] synonym: "xylocaine allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:293722000 xref: UMLS_CUI:C0570646 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040010 name: mepivacaine allergy def: "A drug allergy that has_allergic_trigger mepivacaine." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9989796] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Carbocaine allergy" EXACT [] synonym: "Polocaine allergy" EXACT [] xref: ICD10CM:Z88.4 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040011 name: phenobarbital allergy def: "A drug allergy that has_allergic_trigger phenobarbital." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11994495] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Luminal allergy" EXACT [] synonym: "phenobarbitol allergy" EXACT [] synonym: "phenobarbitone allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:293865005 xref: UMLS_CUI:C0570785 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040012 name: phenytoin allergy def: "A drug allergy that has_allergic_trigger phenytoin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7602118] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Dilantin allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:293869004 xref: UMLS_CUI:C0570789 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040013 name: ranitidine allergy def: "A drug allergy that has_allergic_trigger ranitidine." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7782125] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Zantac allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:293653009 xref: UMLS_CUI:C0570577 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040014 name: corticosteroid allergy def: "A drug allergy that has_allergic_trigger corticosteroid." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2265088] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040015 name: sulfonamide allergy def: "A drug allergy that has_allergic_trigger sulfonamide." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2434548] {comment="IEDB:RV"} subset: DO_IEDB_slim xref: SNOMEDCT_US_2023_03_01:91939003 xref: UMLS_CUI:C0038757 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040016 name: sulfamethoxazole allergy def: "A drug allergy that has_allergic_trigger sulfamethoxazole." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7602118] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "SMX allergy" EXACT [] synonym: "SMZ allergy" EXACT [] synonym: "sulphamethoxazole allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040017 name: suprofen allergy def: "A drug allergy that has_allergic_trigger suprofen." [url:https\://www.ncbi.nlm.nih.gov/pubmed/509935] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Profenal allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040018 name: thiopental allergy def: "A drug allergy that has_allergic_trigger thiopental." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2215478] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "penthiobarbital allergy" EXACT [] synonym: "pentothiobarbital allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:293709008 xref: UMLS_CUI:C0570633 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040019 name: D-mannitol allergy def: "A drug allergy that has_allergic_trigger D-mannitol." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15479277] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "mannitol allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:295019008 xref: UMLS_CUI:C0571922 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040020 name: cefotaxime allergy def: "A cephalosporin allergy that has_allergic_trigger cefotaxime." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12833570] {comment="IEDB:RV"} subset: DO_IEDB_slim xref: SNOMEDCT_US_2023_03_01:294545004 xref: UMLS_CUI:C0571457 is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040021 name: cephalosporin allergy def: "A drug allergy that has_allergic_trigger cephalosporin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2083978] {comment="IEDB:RV"} subset: DO_IEDB_slim xref: SNOMEDCT_US_2023_03_01:294532003 xref: UMLS_CUI:C0571444 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040022 name: amodiaquine allergy def: "A drug allergy that has_allergic_trigger amodiaquine." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1959977] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Camoquin allergy" EXACT [] synonym: "Flavoquine allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:294390007 xref: UMLS_CUI:C0571303 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040023 name: cefaclor allergy def: "A cephalosporin allergy that has_allergic_trigger cefaclor." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12569987] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Ceclor allergy" EXACT [] synonym: "cephaclor allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:294541008 xref: UMLS_CUI:C0571453 is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040024 name: ceftazidime allergy def: "A cephalosporin allergy that has_allergic_trigger ceftazidime." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12833570] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Fortaz allergy" EXACT [] synonym: "Tazicef allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:294546003 xref: UMLS_CUI:C0571458 is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040025 name: cefuroxime allergy def: "A cephalosporin allergy that has_allergic_trigger cefuroxime." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12833570] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "cephuroxime allergy" EXACT [] synonym: "Zinacef allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:294542001 xref: UMLS_CUI:C0571454 is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040026 name: chlorhexidine allergy def: "A drug allergy that has_allergic_trigger chlorhexidine." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10848923] {comment="IEDB:RV"} subset: DO_IEDB_slim xref: SNOMEDCT_US_2023_03_01:294431008 xref: UMLS_CUI:C0571344 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040027 name: cyclophosphamide allergy def: "A drug allergy that has_allergic_trigger cyclophosphamide." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8024619] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "cytophosphane allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:293748008 xref: UMLS_CUI:C0570670 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040028 name: succinylcholine allergy def: "A drug allergy that has_allergic_trigger succinylcholine." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2410473] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "dicholine succinate allergy" EXACT [] synonym: "succinocholine allergy" EXACT [] synonym: "sux allergy" EXACT [] synonym: "suxamethonium allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:294224007 xref: UMLS_CUI:C0571140 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040029 name: trimethoprim allergy def: "A drug allergy that has_allergic_trigger trimethoprim." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3377143] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Primsol allergy" EXACT [] synonym: "proloprim allergy" EXACT [] synonym: "TMP allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:294477004 xref: UMLS_CUI:C0571390 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040030 name: cefixime allergy def: "A cephalosporin allergy that has_allergic_trigger cefixime." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16867046] {comment="IEDB:RV"} subset: DO_IEDB_slim xref: SNOMEDCT_US_2023_03_01:294548002 xref: UMLS_CUI:C0571460 is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040031 name: diclofenac allergy def: "A drug allergy that has_allergic_trigger diclofenac." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21060839] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Voltaren allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:293613006 xref: UMLS_CUI:C0570540 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040032 name: carbapenem allergy def: "A drug allergy that has_allergic_trigger carbapenems." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2457043] {comment="IEDB:RV"} subset: DO_IEDB_slim xref: SNOMEDCT_US_2023_03_01:294531005 xref: UMLS_CUI:C0571443 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040033 name: piperacillin allergy def: "A beta-lactam allergy that has_allergic_trigger piperacillin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21532862] {comment="IEDB:RV"} subset: DO_IEDB_slim xref: SNOMEDCT_US_2023_03_01:294515002 xref: UMLS_CUI:C0571427 is_a: DOID:0060519 ! beta-lactam allergy [Term] id: DOID:0040034 name: rocuronium allergy def: "A drug allergy that has_allergic_trigger rocuronium." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17667569] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Esmeron allergy" EXACT [] synonym: "Zemuron allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:294233009 xref: UMLS_CUI:C0571149 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040035 name: sulfasalazine allergy def: "A drug allergy that has_allergic_trigger sulfasalazine." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2434548] {comment="IEDB:RV"} subset: DO_IEDB_slim xref: SNOMEDCT_US_2023_03_01:293663001 xref: UMLS_CUI:C0570587 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040036 name: tubocurarine allergy def: "A drug allergy that has_allergic_trigger tubocurarine." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2215478] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "DTC allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:294231006 xref: UMLS_CUI:C0571147 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040037 name: aztreonam allergy def: "A beta-lactam allergy that has_allergic_trigger aztreonam." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1991925] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Azactam allergy" EXACT [] synonym: "Primbactam allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:294565006 xref: UMLS_CUI:C0571476 is_a: DOID:0060519 ! beta-lactam allergy [Term] id: DOID:0040038 name: meropenem allergy def: "An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23668298] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Merrem allergy" EXACT [] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040040 name: hexamethylene diisocyanate allergic asthma def: "An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8711735] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic asthma to HDI" EXACT [] synonym: "allergic asthma to HMDI" EXACT [] is_a: DOID:0040041 ! isocyanates allergic asthma [Term] id: DOID:0040041 name: isocyanates allergic asthma def: "An allergic asthma that has_allergic_trigger isocyanates." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3349596] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040042 name: diphenylmethane-4,4'-diisocyanate allergic asthma def: "An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8711735] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic asthma to MDI" EXACT [] is_a: DOID:0040041 ! isocyanates allergic asthma [Term] id: DOID:0040043 name: toluene meta-diisocyanate allergic asthma def: "An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11289402] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic asthma to TDI" EXACT [] is_a: DOID:0040041 ! isocyanates allergic asthma [Term] id: DOID:0040044 name: methyl isocyanate allergic asthma def: "An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3622432] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic asthma to MIC" EXACT [] is_a: DOID:0040041 ! isocyanates allergic asthma [Term] id: DOID:0040045 name: nickel allergic asthma def: "An allergic asthma that has_allergic_trigger nickel atom." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6691936] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic asthma to Ni" EXACT [] is_a: DOID:0060501 ! metal allergy is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040046 name: nickel allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger nickel atom." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7671317] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic contact dermatitis to Ni" EXACT [] xref: ICD10CM:L23.0 is_a: DOID:0060501 ! metal allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040047 name: trimellitic anhydride allergic asthma def: "An allergic asthma that has_allergic_trigger trimellitic anhydride." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6643876] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic asthma to TMA" EXACT [] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040048 name: phthalic anhydride allergic asthma def: "An allergic asthma that has_allergic_trigger phthalic anhydride." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3711550] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040049 name: maleic anhydride allergic asthma def: "An allergic asthma that has_allergic_trigger maleic anhydride." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3711550] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic asthma to MA" EXACT [] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040050 name: tetrachlorophthalic anhydride allergic asthma def: "An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3711550] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040051 name: hexahydrophthalic anhydride allergic asthma def: "An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride." [url:https\://www.ncbi.nlm.nih.gov/pubmed/4008795] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic asthma to HHPA" EXACT [] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040052 name: diphenylmethane-4,4'-diisocyanate allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6296214] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic contact dermatitis to MDI" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040053 name: cobalt allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger cobalt atom." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8566016] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic contact dermatitis to Co" EXACT [] is_a: DOID:0060501 ! metal allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040054 name: cobalt allergic asthma def: "An allergic asthma that has_allergic_trigger cobalt atom." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7444839] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Co allergic asthma" EXACT [] is_a: DOID:0060501 ! metal allergy is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040055 name: palladium allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger palladium." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25097477] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic contact dermatitis to Pd" EXACT [] is_a: DOID:0060501 ! metal allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040056 name: chromium allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger chromium atom." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1108802] {comment="IEDB:RV"} subset: DO_IEDB_slim xref: ICD10CM:L23.0 is_a: DOID:0060501 ! metal allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040057 name: benzoic acid allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger benzoic acid." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25097477] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic contact dermatitis to benzoate" EXACT [] xref: SNOMEDCT_US_2023_03_01:294186000 xref: UMLS_CUI:C0571102 is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040058 name: 1,4-phenylenediamine allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8400900] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic contact dermatitis to p-phenylenediamine" EXACT [] synonym: "allergic contact dermatitis to PPD" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040059 name: potassium dichromate allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger potassium dichromate." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15462465] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:0060501 ! metal allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040060 name: ketoprofen photoallergic dermatitis def: "A photoallergic dermatitis that has_allergic_trigger ketoprofen." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11169173] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "photoallergic dermatitis to Orudis" EXACT [] xref: SNOMEDCT_US_2023_03_01:293621000 xref: UMLS_CUI:C0570547 is_a: DOID:0060500 ! drug allergy is_a: DOID:3818 ! photoallergic dermatitis [Term] id: DOID:0040061 name: remazole black respiratory allergy def: "A respiratory allergy that has_allergic_trigger remazole black-GR." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2312995] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "respiratory allergy to Reactive Black 5" EXACT [] is_a: DOID:0060496 ! respiratory allergy is_a: DOID:0060501 ! metal allergy [Term] id: DOID:0040062 name: chloramine T respiratory allergy def: "A respiratory allergy that has_allergic_trigger chloramine T." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2758361] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "respiratory allergy to Chloraseptin" EXACT [] synonym: "respiratory allergy to Chlorazol" EXACT [] synonym: "respiratory allergy to Trichlorol" EXACT [] is_a: DOID:0060496 ! respiratory allergy is_a: DOID:0060501 ! metal allergy [Term] id: DOID:0040063 name: 4-vinylcyclohexene dioxide respiratory allergy def: "A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3356477] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "respiratory allergy to vinyl cyclohexene diepoxide" EXACT [] is_a: DOID:0060496 ! respiratory allergy [Term] id: DOID:0040064 name: carvone allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger (-)-carvone." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11380545] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic contact dermatitis to levo-carvone" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040065 name: quinidine allergy def: "A drug allergy that has_allergic_trigger quinidine." [url:https\://www.ncbi.nlm.nih.gov/pubmed/445303] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Kinidin allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:294978001 xref: UMLS_CUI:C0571881 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040066 name: melphalan allergy def: "A drug allergy that has_allergic_trigger melphalan." [url:https\://www.ncbi.nlm.nih.gov/pubmed/445303] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Alkeran allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:293751001 xref: UMLS_CUI:C0570673 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040067 name: neomycin sulfate allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger neomycin sulfate." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21616561] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic contact dermatitis to neomycin sulphate" EXACT [] xref: SNOMEDCT_US_2023_03_01:409640001 xref: UMLS_CUI:C1443961 is_a: DOID:0060500 ! drug allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040068 name: 4-tert-butylphenol allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8462290] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic contact dermatitis to butylphen" EXACT [] synonym: "allergic contact dermatitis to PTBP" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040069 name: 1-chloro-2,4-dinitrobenzene allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17008874] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic contact dermatitis to dinitrochlorobenzene" EXACT [] synonym: "allergic contact dermatitis to DNCB" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040070 name: co-trimoxazole allergy def: "A drug allergy that has_allergic_trigger co-trimoxazole." [url:https\://www.ncbi.nlm.nih.gov/pubmed/445303] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "Bactrim allergy" EXACT [] synonym: "cotrimoxazol allergy" EXACT [] synonym: "TMP/SMX allergy" EXACT [] synonym: "trimethoprim/sulfamethoxazole allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:294594004 xref: UMLS_CUI:C0571504 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040071 name: sodium aurothiomalate allergy def: "A drug allergy that has_allergic_trigger sodium aurothiomalate." [url:https\://www.ncbi.nlm.nih.gov/pubmed/445303] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "gold sodium thiomalate allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:294239008 xref: UMLS_CUI:C0571155 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040072 name: parthenolide allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger parthenolide." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17986299] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic contact dermatitis to feverfew" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040073 name: disodium cromoglycate allergy def: "A drug allergy that has_allergic_trigger disodium cromoglycate." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3128591] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "DSCG allergy" EXACT [] is_a: DOID:0060500 ! drug allergy is_a: DOID:0060501 ! metal allergy [Term] id: DOID:0040074 name: formaldehyde allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger formaldehyde." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7902023] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic contact dermatitis to formalin" EXACT [] xref: SNOMEDCT_US_2023_03_01:294426006 xref: UMLS_CUI:C0571339 is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040075 name: benzo[d]isothiazol-3-one allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6446435] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic contact dermatitis to benzisothiazolone" EXACT [] synonym: "allergic contact dermatitis to BIT" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040076 name: phthalyl group allergy def: "A drug allergy that has_allergic_trigger phthalyl group." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7400667] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "phthalyl allergy" EXACT [] xref: SNOMEDCT_US_2023_03_01:294571000 xref: UMLS_CUI:C0571482 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040077 name: alcuronium bromide allergy def: "A drug allergy that has_allergic_trigger alcuronium bromide." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2215478] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040078 name: gallamine allergy def: "A drug allergy that has_allergic_trigger gallamine." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2215478] {comment="IEDB:RV"} subset: DO_IEDB_slim xref: SNOMEDCT_US_2023_03_01:294229002 xref: UMLS_CUI:C0571145 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040079 name: 2,4-dinitrophenyl allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17008874] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "allergic contact dermatitis to DNP" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040080 name: patent blue V allergy def: "A drug allergy that has_allergic_trigger patent blue V." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19804438] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040081 name: acid anhydride respiratory allergy def: "A respiratory allergy that has_allergic_trigger acid anhydride." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6643876] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:0060496 ! respiratory allergy [Term] id: DOID:0040082 name: oxirane allergy def: "A drug allergy that has_allergic_trigger oxirane." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3932500] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "ethylene oxide allergy" EXACT [] synonym: "ETO allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040083 name: Chlamydia pneumonia def: "A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16831205] {comment="IEDB:RV"} subset: DO_IEDB_slim subset: DO_infectious_disease_slim xref: ICD10CM:J16.0 xref: ICD9CM:483.1 is_a: DOID:874 ! bacterial pneumonia [Term] id: DOID:0040084 name: Streptococcus pneumonia def: "A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26396191] {comment="IEDB:RV"} subset: DO_IEDB_slim subset: DO_infectious_disease_slim xref: ICD10CM:J13 xref: ICD9CM:481 is_a: DOID:874 ! bacterial pneumonia [Term] id: DOID:0040085 name: bacterial sepsis def: "A bacterial infectious disease has_material_basis_in Bacteria." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20421654] {comment="IEDB:RV"} subset: DO_IEDB_slim subset: DO_infectious_disease_slim xref: ICD9CM:995.91 xref: SNOMEDCT_US_2021_09_01:10001005 is_a: DOID:104 ! bacterial infectious disease [Term] id: DOID:0040086 name: Polyomavirus-associated nephropathy def: "A viral infectious disease has_material_basis_in BK polyomavirus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16537617] {comment="IEDB:RV"} subset: DO_IEDB_slim subset: DO_infectious_disease_slim synonym: "polyomavirus associated nephropathy" EXACT [] synonym: "PVAN" EXACT OMO:0003012 [] xref: SNOMEDCT_US_2023_03_01:713886006 xref: UMLS_CUI:C1697878 is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome [Term] id: DOID:0040087 name: autoimmune peripheral neuropathy def: "An autoimmune disease of peripheral nervous system that results in peripheral neuropathy." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7693874] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system [Term] id: DOID:0040088 name: autoimmune uveitis def: "An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12938234] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:0060030 ! autoimmune disease of eyes, ear, nose and throat is_a: DOID:3480 ! uveal disease [Term] id: DOID:0040089 name: autoimmune optic neuritis def: "An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7516573] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system [Term] id: DOID:0040090 name: autoimmune gastritis def: "An autoimmune disease of gastrointestinal tract that is located_in the stomach." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12645953] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract is_a: DOID:76 ! stomach disease [Term] id: DOID:0040091 name: autoimmune pancreatitis def: "An autoimmune disease of endocrine system that is located_in the pancreas." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19940298] {comment="IEDB:RV"} subset: DO_IEDB_slim xref: MESH:D000081012 xref: SNOMEDCT_US_2023_03_01:448542008 xref: UMLS_CUI:C2609129 is_a: DOID:0060005 ! autoimmune disease of endocrine system is_a: DOID:26 ! pancreas disease property_value: exactMatch "MESH:D000081012" xsd:string [Term] id: DOID:0040092 name: juvenile ankylosing spondylitis def: "An ankylosing spondylitis with onset during childhood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7541736] {comment="IEDB:RV"} subset: DO_IEDB_slim xref: ICD10CM:M08.1 xref: SNOMEDCT_US_2023_03_01:201802002 xref: UMLS_CUI:C0409675 is_a: DOID:7147 ! ankylosing spondylitis [Term] id: DOID:0040093 name: drug-induced lupus erythematosus def: "A lupus erythematosus caused by chronic use of certain drugs." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1378852] {comment="IEDB:RV"} subset: DO_IEDB_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "DIL" EXACT OMO:0003012 [] synonym: "DILE" EXACT OMO:0003012 [] xref: ICD10CM:M32.0 xref: NCI:C114354 xref: ORDO:231111 xref: SNOMEDCT_US_2023_03_01:80258006 xref: UMLS_CUI:C0263591 is_a: DOID:8857 ! lupus erythematosus [Term] id: DOID:0040094 name: autoimmune glomerulonephritis alt_id: DOID:0050146 def: "An autoimmune disease of urogenital tract that is located_in the renal glomerulus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8809141] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:0060049 ! autoimmune disease of urogenital tract [Term] id: DOID:0040095 name: autoimmune cardiomyopathy def: "An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10762456] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:114 ! heart disease [Term] id: DOID:0040096 name: autoimmune atherosclerosis def: "An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17097662] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:0060051 ! autoimmune disease of cardiovascular system [Term] id: DOID:0040097 name: autoimmune vasculitis def: "An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23549081] {comment="IEDB:RV"} subset: DO_IEDB_slim xref: SNOMEDCT_US_2023_03_01:427213005 xref: UMLS_CUI:C1328843 is_a: DOID:0060051 ! autoimmune disease of cardiovascular system [Term] id: DOID:0040098 name: pemphigus gestationis def: "A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16552711] {comment="IEDB:RV"} subset: DO_IEDB_slim xref: ICD10CM:O26.4 is_a: DOID:9182 ! pemphigus [Term] id: DOID:0040099 name: livedoid vasculitis def: "A vasculitis with purpuric ulcers." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10925314] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "livedoid vasculopathy" EXACT [] xref: ICD10CM:L95.0 xref: ICD9CM:709.1 is_a: DOID:865 ! vasculitis [Term] id: DOID:0040100 name: Hirata disease def: "An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10445096] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "insulin autoimmune syndrome" EXACT [] xref: SNOMEDCT_US_2023_03_01:408539000 xref: UMLS_CUI:C0854359 is_a: DOID:0060005 ! autoimmune disease of endocrine system [Term] id: DOID:0040101 name: N,N'-diphenylthiourea allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28295200] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "neoprene allergy" RELATED [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040102 name: N,N'-diethylthiourea allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28295200] {comment="IEDB:RV"} subset: DO_IEDB_slim synonym: "neoprene allergy" RELATED [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040103 name: cefotiam allergy def: "A cephalosporin allergy that has_allergic_trigger cefotiam." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28543395] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040104 name: toluene 2,4-diisocyanate allergic asthma def: "A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194110/] {comment="IEDB:RV"} subset: DO_IEDB_slim is_a: DOID:0040043 ! toluene meta-diisocyanate allergic asthma [Term] id: DOID:0050001 name: obsolete Actinomadura madurae infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050002 name: obsolete Actinomadura pelletieri infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050003 name: obsolete Streptomyces somaliensis infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050004 name: seminal vesicle acute gonorrhea def: "A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection." [url:https\://en.wikipedia.org/wiki/Seminal_vesicle#Inflammation] subset: DO_infectious_disease_slim xref: SNOMEDCT_US_2023_03_01:301990003 xref: UMLS_CUI:C0578661 is_a: DOID:10400 ! gonococcal seminal vesiculitis [Term] id: DOID:0050007 name: obsolete cutaneous strongyloidiasis def: "A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas." [] is_obsolete: true [Term] id: DOID:0050009 name: obsolete intestinal strongyloidiasis def: "A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Strongyloidiasis.htm, url:http\://www.merck.com/mmpe/sec14/ch182/ch182i.html?qt=strongyloidiasis&alt=sh] is_obsolete: true [Term] id: DOID:0050010 name: obsolete Mansonella perstans infectious disease def: "A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm] is_obsolete: true [Term] id: DOID:0050011 name: obsolete Mansonella streptocerca infectious disease def: "A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050012 name: chikungunya def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash." [url:http\://en.wikipedia.org/wiki/Chikungunya_virus] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: zoonotic_infectious_disease synonym: "Chikungunya fever" EXACT [] xref: GARD:6038 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050013 name: obsolete carbohydrate metabolism disease def: "An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism." [url:http\://www.nlm.nih.gov/medlineplus/metabolicdisorders.html] is_obsolete: true [Term] id: DOID:0050014 name: obsolete epizootic hemorrhagic disease def: "A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/epizootic_hemorrhagic_disease.pdf] synonym: "EHD" RELATED [] is_obsolete: true [Term] id: DOID:0050015 name: obsolete Rocio virus encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome." [url:http\://books.google.com/books?id=5O0somr0w18C&pg=RA1-PA1198&lpg=RA1-PA1198&dq#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/17622628, url:http\://www.scielo.br/pdf/rsp/v20n3/01.pdf] is_obsolete: true [Term] id: DOID:0050024 name: obsolete Ehrlichia ewingii ehrlichiosis subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050025 name: human granulocytic anaplasmosis alt_id: DOID:0050021 alt_id: DOID:0050022 def: "An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25999228] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease synonym: "HGE" RELATED OMO:0003012 [] synonym: "human granulocytic ehrlichiosis" EXACT [] is_a: DOID:10242 ! ehrlichiosis [Term] id: DOID:0050026 name: human monocytic ehrlichiosis alt_id: DOID:14091 def: "An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash." [url:https\://rarediseases.org/rare-diseases/human-monocytic-ehrlichiosis-hme/] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease synonym: "Ehrlichiosis chafeensis" RELATED [] xref: GARD:72 is_a: DOID:10242 ! ehrlichiosis [Term] id: DOID:0050032 name: mineral metabolism disease def: "An acquired metabolic disease that is characterized by abnormal mineral metabolism." [url:http\://www.nlm.nih.gov/medlineplus/metabolicdisorders.html] is_a: DOID:0060158 ! acquired metabolic disease [Term] id: DOID:0050035 name: African tick-bite fever alt_id: DOID:0050034 alt_id: DOID:0050036 def: "A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash." [url:http\://jcm.asm.org/cgi/reprint/42/2/816, url:http\://www.cdc.gov/otherspottedfever/index.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "Rickettsia africae spotted fever" EXACT [] synonym: "south african tick-bite fever" EXACT [] is_a: DOID:11104 ! spotted fever [Term] id: DOID:0050041 name: Astrakhan spotted fever def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." [url:http\://books.google.com/books?id=dKlUARLKT9IC&pg=PA306&lpg=PA306&dq#v=onepage&q&f=false, url:http\://www.cdc.gov/otherspottedfever/index.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease is_a: DOID:11104 ! spotted fever [Term] id: DOID:0050042 name: Indian tick typhus def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities." [url:http\://www.biomedcentral.com/1471-2180/5/11, url:http\://www.cdc.gov/otherspottedfever/index.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease is_a: DOID:11104 ! spotted fever [Term] id: DOID:0050043 name: Israeli tick typhus def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities." [url:http\://www.biomedcentral.com/1471-2180/5/11, url:http\://www.cdc.gov/otherspottedfever/index.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "Israeli spotted fever" RELATED [] is_a: DOID:11104 ! spotted fever [Term] id: DOID:0050046 name: Far Eastern spotted fever def: "A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy." [url:http\://www.cdc.gov/eid/content/16/8/pdfs/1306.pdf, url:http\://www.cdc.gov/otherspottedfever/index.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "Rickettsia heilongjiangensis spotted fever" EXACT [] is_a: DOID:11104 ! spotted fever [Term] id: DOID:0050047 name: Flinders Island spotted fever alt_id: DOID:0050048 def: "A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy." [url:https\://www.cdc.gov/otherspottedfever/imported/index.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease synonym: "FISF" RELATED OMO:0003012 [] synonym: "Thai tick typhus" EXACT [] is_a: DOID:11104 ! spotted fever [Term] id: DOID:0050050 name: Japanese spotted fever alt_id: DOID:0050049 def: "A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities." [url:http\://www.cdc.gov/otherspottedfever/index.html, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "oriental spotted fever" EXACT [] synonym: "Rickettsia japonica spotted fever" EXACT [] is_a: DOID:11104 ! spotted fever [Term] id: DOID:0050051 name: Rickettsia parkeri spotted fever def: "A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash." [url:http\://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri, url:http\://www.cdc.gov/otherspottedfever/index.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "maculatum infection" EXACT [] is_a: DOID:11104 ! spotted fever [Term] id: DOID:0050052 name: Rocky Mountain spotted fever alt_id: DOID:0050056 alt_id: DOID:1708 def: "A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash." [url:http\://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29, url:http\://www.cdc.gov/otherspottedfever/index.html] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "Brazilian spotted" RELATED [] synonym: "Choix" RELATED [] synonym: "Exanthematic typhus of Sao Paulo" RELATED [] synonym: "Fiebre maculosa" RELATED [] synonym: "Fiebre manchada" RELATED [] synonym: "Sao Paulo typhus" RELATED [] synonym: "So Paulo fever" RELATED [] synonym: "Tick typhus" EXACT [] synonym: "Tobia fever" RELATED [] xref: GARD:7585 xref: MESH:D012373 is_a: DOID:11104 ! spotted fever [Term] id: DOID:0050053 name: obsolete Rickettsia honei spotted fever subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease is_obsolete: true [Term] id: DOID:0050059 name: oropharyngeal anthrax def: "A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3934300] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: zoonotic_infectious_disease is_a: DOID:13386 ! gastrointestinal anthrax [Term] id: DOID:0050061 name: erysipeloid def: "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin." [url:https\://en.wikipedia.org/wiki/Erysipeloid] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: zoonotic_infectious_disease xref: MESH:D004887 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:0050063 name: obsolete abortive plague subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050065 name: obsolete cutaneous listeriosis subset: gram-positive_bacterial_infectious_disease subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050066 name: obsolete Listeria meningoencephalitis subset: gram-positive_bacterial_infectious_disease subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050067 name: obsolete Listeria septicaemia subset: gram-positive_bacterial_infectious_disease subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050068 name: obsolete pestis minor def: "A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration." [] is_obsolete: true [Term] id: DOID:0050069 name: obsolete Yersinia pestis infectious disease subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050070 name: obsolete plague meningitis subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050072 name: adiaspiromycosis def: "A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens." [url:http\://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract] subset: DO_infectious_disease_slim xref: MESH:C000656784 is_a: DOID:0050292 ! primary systemic mycosis [Term] id: DOID:0050073 name: invasive aspergillosis def: "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage." [url:http\://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001326.htm] subset: DO_infectious_disease_slim is_a: DOID:13564 ! aspergillosis is_a: DOID:850 ! lung disease [Term] id: DOID:0050074 name: obsolete tonsillar aspergillosis def: "An aspergillosis that involves fungal infection of the tonsils by Aspergillus species." [url:https\://www.ncbi.nlm.nih.gov/pubmed/792373] is_obsolete: true [Term] id: DOID:0050075 name: obsolete pulmonary blastomycosis alt_id: DOID:0050076 alt_id: DOID:0050077 def: "A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules." [] is_obsolete: true [Term] id: DOID:0050078 name: obsolete cervix tuberculosis subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050079 name: obsolete niacin deficiency is_obsolete: true [Term] id: DOID:0050080 name: obsolete iodine deficiency is_obsolete: true [Term] id: DOID:0050082 name: obsolete hepatic Torque teno virus infectious disease alt_id: DOID:0050081 def: "A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion." [] synonym: "human circovirus infectious disease" RELATED [] synonym: "Transfussion-transmitted virus liver infection" EXACT [] synonym: "TT virus liver infection" EXACT [] is_obsolete: true [Term] id: DOID:0050083 name: Keshan disease def: "A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency." [url:https\://en.wikipedia.org/wiki/Keshan_disease] subset: DO_rare_slim xref: GARD:8761 xref: MESH:C536166 is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:0050084 name: obsolete rhinotracheitis def: "An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinotracheitis] comment: Not a human disease. synonym: "feline coryza" EXACT [] synonym: "feline influenza" EXACT [] synonym: "Feline viral rhinotracheitis" EXACT [] is_obsolete: true [Term] id: DOID:0050085 name: obsolete entomophthoromycosis def: "A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales." [url:http\://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm] is_obsolete: true [Term] id: DOID:0050086 name: obsolete cutaneous mucormycosis def: "An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle." [url:http\://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/, url:http\://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm, url:http\://www.springerlink.com/content/c7286n02m8327567/fulltext.pdf] is_obsolete: true [Term] id: DOID:0050088 name: obsolete gastrointestinal mucormycosis def: "A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16020690] is_obsolete: true [Term] id: DOID:0050089 name: obsolete pulmonary mucormycosis def: "An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis." [url:http\://archinte.ama-assn.org/cgi/reprint/159/12/1301.pdf, url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4] is_obsolete: true [Term] id: DOID:0050090 name: obsolete rhinocerebral mucormycosis def: "An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures." [url:http\://www.merck.com/mmhe/sec17/ch197/ch197h.html] is_obsolete: true [Term] id: DOID:0050091 name: obsolete disseminated paracoccidioidomycosis def: "A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis." [url:http\://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/] is_obsolete: true [Term] id: DOID:0050092 name: obsolete pulmonary paracoccidioidomycosis def: "A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss." [url:http\://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/] is_obsolete: true [Term] id: DOID:0050093 name: obsolete disseminated sporotrichosis def: "A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus." [url:http\://en.wikipedia.org/wiki/Sporotrichosis] is_obsolete: true [Term] id: DOID:0050094 name: obsolete lymphocutaneous sporotrichosis def: "A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate." [url:http\://emedicine.medscape.com/article/228723-overview, url:http\://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/] is_obsolete: true [Term] id: DOID:0050095 name: obsolete pulmonary sporotrichosis def: "A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes." [url:http\://en.wikipedia.org/wiki/Sporotrichosis] is_obsolete: true [Term] id: DOID:0050096 name: tinea barbae def: "A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules." [url:https\://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-barbae] subset: DO_infectious_disease_slim synonym: "dermatophytosis of beard" EXACT [] xref: MESH:C000656825 is_a: DOID:37 ! skin disease is_a: DOID:8913 ! dermatophytosis [Term] id: DOID:0050097 name: ectothrix infectious disease def: "A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft." [url:https\://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-capitis] subset: DO_infectious_disease_slim is_a: DOID:421 ! hair disease is_a: DOID:4337 ! tinea capitis [Term] id: DOID:0050098 name: obsolete Microsporum audouinii tinea capitis def: "An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_audouinii.html] is_obsolete: true [Term] id: DOID:0050099 name: obsolete Microsporum canis tinea capitis def: "An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_canis.html] is_obsolete: true [Term] id: DOID:0050100 name: obsolete Microsporum distortum tinea capitis def: "An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_distortum.html] is_obsolete: true [Term] id: DOID:0050101 name: obsolete Microsporum ferrugineum tinea capitis def: "An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_ferrugineum.html] is_obsolete: true [Term] id: DOID:0050102 name: obsolete Microsporum gypseum tinea capitis def: "An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions." [url:http\://archderm.highwire.org/cgi/reprint/64/3/309.pdf, url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_gypseum.html, url:http\://www.springerlink.com/content/q856g32375864654/fulltext.pdf] is_obsolete: true [Term] id: DOID:0050103 name: obsolete Microsporum nanum tinea capitis def: "An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans." [url:http\://www.jstor.org/stable/pdfplus/3756652.pdf, url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_nanum.html] is_obsolete: true [Term] id: DOID:0050104 name: obsolete Trichophyton verrucosum tinea capitis def: "An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/verrucosum.html] is_obsolete: true [Term] id: DOID:0050105 name: endothrix infectious disease def: "A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only." [url:http\://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/] subset: DO_infectious_disease_slim is_a: DOID:421 ! hair disease is_a: DOID:4337 ! tinea capitis [Term] id: DOID:0050106 name: obsolete Trichophyton soudanense tinea capitis def: "An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/soudanense.html] is_obsolete: true [Term] id: DOID:0050107 name: obsolete Trichophyton tonsurans tinea capitis def: "An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/tonsurans.html] is_obsolete: true [Term] id: DOID:0050108 name: obsolete Trichophyton violaceum tinea capitis def: "An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like black dots." [url:http\://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm, url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/violaceum.html] is_obsolete: true [Term] id: DOID:0050110 name: obsolete Trichophyton schoenleinii tinea capitis def: "A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/schoenlenii.html] is_obsolete: true [Term] id: DOID:0050111 name: obsolete Microsporum fulvum tinea capitis def: "An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_fulvum.html] is_obsolete: true [Term] id: DOID:0050112 name: obsolete Trichophyton megninii tinea capitis def: "An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii." [url:http\://emedicine.medscape.com/article/787217-overview, url:http\://www.provlab.ab.ca/mycol/tutorials/derm/tmegn.htm] is_obsolete: true [Term] id: DOID:0050113 name: obsolete Trichophyton equinum tinea capitis def: "An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum." [url:http\://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/equinum.html] is_obsolete: true [Term] id: DOID:0050115 name: obsolete Trichophyton yaoundei tinea capitis def: "An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions." [url:http\://en.wikipedia.org/wiki/Trichophyton, url:http\://www.nature.com/jid/journal/v41/n1/pdf/jid19636a.pdf] is_obsolete: true [Term] id: DOID:0050116 name: tinea imbricata def: "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition." [url:https\://www.sciencedirect.com/topics/medicine-and-dentistry/tinea-imbricata] subset: DO_infectious_disease_slim is_a: DOID:12179 ! tinea corporis [Term] id: DOID:0050117 name: disease by infectious agent alt_id: DOID:10115 alt_id: DOID:11078 alt_id: DOID:1304 alt_id: DOID:1321 alt_id: DOID:2040 alt_id: DOID:2288 alt_id: DOID:3099 alt_id: DOID:4120 alt_id: DOID:4620 alt_id: DOID:5256 alt_id: DOID:945 alt_id: DOID:95 alt_id: DOID:9532 alt_id: DOID:9696 def: "A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26726] comment: DO:wk subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_infectious_disease_slim subset: DO_MGI_slim synonym: "infectious disease" EXACT [] xref: ICD9CM:079.0 xref: UMLS_CUI:C0001485 is_a: DOID:4 ! disease property_value: OBI:9991118 "infectious disease" xsd:string [Term] id: DOID:0050118 name: La Crosse encephalitis alt_id: DOID:10840 def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease synonym: "California Encephalitis" EXACT [] synonym: "California virus encephalitis" EXACT [] synonym: "Neuroinvasive California encephalitis virus infection" EXACT [] xref: ICD10CM:A83.5 xref: ICD9CM:062.5 xref: MESH:D004670 xref: SNOMEDCT_US_2023_03_01:69627004 xref: UMLS_CUI:C0014053 is_a: DOID:934 ! viral infectious disease is_a: DOID:936 ! brain disease [Term] id: DOID:0050119 name: obsolete West Nile virus neurological syndrome def: "A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder." [url:http\://www.phac-aspc.gc.ca/wnv-vwn/hmncasedef-eng.php] subset: zoonotic_infectious_disease synonym: "West nile neuroinvasive disease" EXACT [] synonym: "WNND" EXACT [] synonym: "WNNS" EXACT [] is_obsolete: true [Term] id: DOID:0050120 name: hemophagocytic lymphohistiocytosis alt_id: DOID:6453 def: "A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages." [url:http\://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis, url:http\://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso] comment: Xref MGI.\nMESH:C537250 added from NeuroDevNet [WAK]. subset: DO_rare_slim subset: NCIthesaurus synonym: "haemophagocytic syndrome" EXACT [] xref: GARD:6589 xref: ICD10CM:D76.1 xref: MESH:D051359 xref: MIM:PS267700 xref: NCI:C34792 xref: ORDO:540 xref: SNOMEDCT_US_2023_03_01:190958003 xref: UMLS_CUI:C0024291 is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:0050123 name: obsolete tuberculous encephalitis subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050125 name: dengue shock syndrome def: "A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth." [url:http\://en.wikipedia.org/wiki/Dengue_shock_syndrome] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease synonym: "DSS" EXACT OMO:0003012 [] is_a: DOID:12205 ! dengue disease [Term] id: DOID:0050126 name: obsolete Tahyna virus encephalitis def: "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures." [url:http\://www.cdc.gov/eid/content/15/2/306.htm, url:http\://www.springerlink.com/content/u67424r731431362/] subset: zoonotic_infectious_disease synonym: "Tahyna virus infection" RELATED [] synonym: "valtice fever" EXACT [] is_obsolete: true [Term] id: DOID:0050127 name: sinusitis alt_id: DOID:2052 alt_id: DOID:9564 def: "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip." [url:http\://en.wikipedia.org/wiki/sinusitis] subset: NCIthesaurus xref: ICD10CM:J01 xref: ICD9CM:461 xref: NCI:C128411 xref: SNOMEDCT_US_2023_03_01:195649005 xref: UMLS_CUI:C0149512 is_a: DOID:1352 ! paranasal sinus disease [Term] id: DOID:0050129 name: secretory diarrhea def: "A diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea] is_a: DOID:13250 ! diarrhea [Term] id: DOID:0050130 name: osmotic diarrhea def: "A dirrhea that occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea] is_a: DOID:13250 ! diarrhea [Term] id: DOID:0050131 name: motility-related diarrhea def: "A diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea] is_a: DOID:13250 ! diarrhea [Term] id: DOID:0050132 name: inflammatory diarrhea def: "A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea] is_a: DOID:13250 ! diarrhea [Term] id: DOID:0050133 name: superficial mycosis alt_id: DOID:13370 def: "A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host." [url:http\://en.wikipedia.org/wiki/Mycoses, url:http\://www.mycology.adelaide.edu.au/Mycoses/] comment: Adding a UMLS CUI for piedra C2980104. subset: DO_infectious_disease_slim synonym: "piedra" EXACT [] synonym: "Steroid-modified tinea infection" EXACT [] xref: ICD10CM:B36.9 xref: MESH:D010854 xref: SNOMEDCT_US_2023_03_01:266218008 xref: SNOMEDCT_US_2023_03_01:47382004 xref: UMLS_CUI:C0031898 xref: UMLS_CUI:C2980104 is_a: DOID:1564 ! fungal infectious disease [Term] id: DOID:0050134 name: cutaneous mycosis def: "A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions." [url:http\://en.wikipedia.org/wiki/Mycoses, url:http\://jama.ama-assn.org/cgi/reprint/61/6/407] subset: DO_infectious_disease_slim is_a: DOID:1564 ! fungal infectious disease [Term] id: DOID:0050135 name: subcutaneous mycosis def: "A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma." [url:https\://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses] subset: DO_infectious_disease_slim is_a: DOID:1564 ! fungal infectious disease [Term] id: DOID:0050136 name: systemic mycosis def: "A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs." [url:http\://dermnetnz.org/fungal/systemic-mycoses.html, url:http\://www.mycology.adelaide.edu.au/Mycoses/, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006] subset: DO_infectious_disease_slim is_a: DOID:1564 ! fungal infectious disease [Term] id: DOID:0050138 name: podoconiosis def: "An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits." [url:https\://en.wikipedia.org/wiki/Podoconiosis] xref: MESH:D004604 is_a: DOID:4976 ! elephantiasis [Term] id: DOID:0050139 name: obsolete Opisthorchis felineus infectious disease def: "A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage." [url:http\://en.wikipedia.org/wiki/Opisthorchis_felineus] is_obsolete: true [Term] id: DOID:0050140 name: acute diarrhea def: "A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide." [url:http\://en.wikipedia.org/wiki/Diarrhea] is_a: DOID:13250 ! diarrhea [Term] id: DOID:0050141 name: intestinal botulism def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins." [url:http\://www.who.int/mediacentre/factsheets/fs270/en/, url:https\://jnnp.bmj.com/content/75/suppl_3/iii35] subset: DO_infectious_disease_slim is_a: DOID:11976 ! botulism [Term] id: DOID:0050143 name: asymptomatic dengue def: "A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms." [url:https\://pubmed.ncbi.nlm.nih.gov/28107858/, url:https\://pubmed.ncbi.nlm.nih.gov/29111183/] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease is_a: DOID:12205 ! dengue disease [Term] id: DOID:0050144 name: Kartagener syndrome def: "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development." [url:http\://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome, url:http\://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1, url:https\://www.ncbi.nlm.nih.gov/pubmed/19529061, url:https\://www.ncbi.nlm.nih.gov/pubmed/23243352, url:https\://www.ncbi.nlm.nih.gov/pubmed/24019633, url:https\://www.ncbi.nlm.nih.gov/pubmed/25633235] subset: DO_rare_slim subset: NCIthesaurus synonym: "Kartagener's syndrome" EXACT [] xref: GARD:6815 xref: MESH:D007619 xref: NCI:C84797 xref: ORDO:98861 xref: SNOMEDCT_US_2021_09_01:42402006 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0050145 name: adenoiditis alt_id: DOID:13750 def: "An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing." [url:http\://books.google.com/books?id=6_BPQKPlYzcC&pg=PA96&lpg=PA96&dq#v=onepage&q=&f=false, url:http\://en.wikipedia.org/wiki/Adenoiditis] synonym: "chronic adenoiditis" EXACT [] xref: ICD10CM:J35.02 xref: ICD9CM:474.01 xref: SNOMEDCT_US_2023_03_01:195794009 xref: UMLS_CUI:C0396023 is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:0050147 name: otomycosis def: "An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans." [url:http\://en.wikipedia.org/wiki/Otomycosis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otomycosis] synonym: "Singapore ear" EXACT [] xref: MESH:D059249 is_a: DOID:9463 ! otitis externa [Term] id: DOID:0050148 name: laryngotracheitis alt_id: DOID:11795 alt_id: DOID:9390 def: "An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngotracheitis] xref: ICD10CM:J04 xref: ICD10CM:J37.1 xref: ICD9CM:464 xref: ICD9CM:476.1 xref: SNOMEDCT_US_2023_03_01:276443001 xref: SNOMEDCT_US_2023_03_01:83271005 xref: UMLS_CUI:C0155811 xref: UMLS_CUI:C0155837 is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:0050150 name: Pontiac fever def: "A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days." [url:http\://www.cdc.gov/legionella/patient_facts.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/623097] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease is_a: DOID:10458 ! legionellosis [Term] id: DOID:0050151 name: obsolete tracheobronchial tuberculosis def: "A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9122509] subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050152 name: aspiration pneumonia def: "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough." [url:https\://en.wikipedia.org/wiki/Aspiration_pneumonia] subset: DO_infectious_disease_slim xref: ICD10CM:J69.0 xref: MESH:D011015 xref: SNOMEDCT_US_2023_03_01:47839005 xref: UMLS_CUI:C0032290 is_a: DOID:874 ! bacterial pneumonia [Term] id: DOID:0050153 name: pulmonary aspergilloma def: "An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring." [url:http\://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001326.htm] subset: DO_infectious_disease_slim is_a: DOID:13564 ! aspergillosis is_a: DOID:850 ! lung disease [Term] id: DOID:0050154 name: obsolete mycoplasmal pneumonia def: "A bacterial pneumonia caused by the genus Mycoplasma." [url:http\://en.wikipedia.org/wiki/Mycoplasma] subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050155 name: sensory system disease def: "A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell)." [url:http\://en.wikipedia.org/wiki/Sensory_system] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_FlyBase_slim subset: DO_GXD_slim is_a: DOID:863 ! nervous system disease [Term] id: DOID:0050156 name: idiopathic pulmonary fibrosis def: "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe." [url:https\://pubmed.ncbi.nlm.nih.gov/32855221/, url:https\://www.ncbi.nlm.nih.gov/books/NBK448162/, url:https\://www.nhlbi.nih.gov/health/idiopathic-pulmonary-fibrosis, url:https\://www.pulmonaryfibrosis.org/life-with-pf/about-ipf] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "cryptogenic fibrosing alveolitis" EXACT [] synonym: "FIBROCYSTIC PULMONARY DYSPLASIA" EXACT [] synonym: "IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL" EXACT [] xref: EFO:0000768 xref: GARD:8609 xref: ICD10CM:J84.112 xref: ICD9CM:516.31 xref: MESH:D054990 xref: NCI:C35716 xref: SNOMEDCT_US_2023_03_01:28168000 xref: UMLS_CUI:C1800706 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3770 ! pulmonary fibrosis [Term] id: DOID:0050157 name: cryptogenic organizing pneumonia alt_id: DOID:2798 def: "An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope." [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh, url:https\://www.ncbi.nlm.nih.gov/pubmed/11790668] subset: DO_rare_slim subset: NCIthesaurus synonym: "BOOP" EXACT OMO:0003012 [] synonym: "bronchiolitis obliterans organising pneumonia" EXACT [] synonym: "bronchiolitis obliterans organizing pneumonia" EXACT [] synonym: "cryptogenic organising pneumonia" EXACT [] synonym: "Cryptogenic organising pneumonitis" EXACT [] synonym: "Cryptogenic organizing pneumonitis" EXACT [] synonym: "idiopathic bronchiolitis obliterans with organising pneumonia" EXACT [] synonym: "idiopathic bronchiolitis obliterans with organizing pneumonia" EXACT [] xref: GARD:1620 xref: ICD10CM:J84.116 xref: ICD9CM:516.36 xref: MESH:D018549 xref: NCI:C62586 xref: SNOMEDCT_US_2023_03_01:129458007 xref: UMLS_CUI:C0242770 is_a: DOID:2797 ! idiopathic interstitial pneumonia [Term] id: DOID:0050158 name: desquamative interstitial pneumonia alt_id: DOID:2796 def: "An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation." [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh, url:https\://www.ncbi.nlm.nih.gov/pubmed/11790668, url:https\://www.ncbi.nlm.nih.gov/pubmed/16142185, url:https\://www.ncbi.nlm.nih.gov/pubmed/16456642, url:https\://www.ncbi.nlm.nih.gov/pubmed/23001799] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "familial desquamative interstitial pneumonitis" EXACT [] synonym: "RBILD" EXACT OMO:0003012 [] synonym: "respiratory bronchiolitis-associated interstitial lung disease" EXACT [] xref: ICD10CM:J84.117 xref: ICD9CM:516.37 xref: MESH:C562470 xref: MIM:263000 xref: NCI:C35288 xref: SNOMEDCT_US_2023_03_01:8549006 xref: UMLS_CUI:C0238378 is_a: DOID:2797 ! idiopathic interstitial pneumonia [Term] id: DOID:0050159 name: lymphoid interstitial pneumonia def: "An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11790668] xref: MESH:C562489 is_a: DOID:2797 ! idiopathic interstitial pneumonia [Term] id: DOID:0050160 name: inhalation anthrax def: "An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches." [url:https\://medlineplus.gov/ency/article/001325.htm, url:https\://www.cdc.gov/anthrax/basics/types/index.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/11988441] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "pulmonary anthrax" EXACT [] synonym: "respiratory anthrax" EXACT [] synonym: "wool-sorters' disease" EXACT [] synonym: "woolsorters' disease" EXACT [] xref: MESH:C571912 is_a: DOID:7427 ! anthrax disease [Term] id: DOID:0050161 name: lower respiratory tract disease def: "A respiratory system disease which involves the lower respiratory tract." [url:http\://en.wikipedia.org/wiki/lower_respiratory_tract] subset: DO_RAD_slim xref: ICD9CM:478.19 xref: SNOMEDCT_US_2023_03_01:195823002 xref: UMLS_CUI:C0029581 is_a: DOID:1579 ! respiratory system disease [Term] id: DOID:0050162 name: obsolete influenza encephalopathy is_obsolete: true [Term] id: DOID:0050163 name: obsolete influenza myocarditis is_obsolete: true [Term] id: DOID:0050164 name: obsolete influenza myositis is_obsolete: true [Term] id: DOID:0050165 name: obsolete tuberculous mesenteric gland def: "A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain." [url:http\://books.google.com/books?id=130IVak1eCwC&pg=PA694&lpg=PA694&dq#v=onepage&q=&f=false] subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050166 name: tuberculous salpingitis def: "An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube." [url:http\://books.google.com/books?id=tuKGMxGRKa8C&pg=PA627&lpg=PA627&dq#v=onepage&q&f=false] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease xref: ICD10CM:A18.17 xref: ICD9CM:016.6 xref: SNOMEDCT_US_2023_03_01:186242002 xref: UMLS_CUI:C0152828 is_a: DOID:1962 ! fallopian tube disease is_a: DOID:2149 ! urogenital tuberculosis [Term] id: DOID:0050167 name: autoimmune polyendocrine syndrome type 1 def: "An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs." [url:https\://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyglandular-syndrome-type-1] {comment="sn:IEDB"} subset: DO_rare_slim synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" EXACT [] synonym: "Autoimmune Polyglandular Syndrome I" EXACT [] synonym: "Whitaker syndrome" EXACT [] xref: GARD:8466 xref: MIM:240300 is_a: DOID:14040 ! autoimmune polyendocrine syndrome [Term] id: DOID:0050168 name: autoimmune polyendocrine syndrome type 2 def: "An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene." [url:http\://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2] {comment="sn:IEDB"} subset: DO_rare_slim synonym: "Schmidt syndrome" EXACT [] xref: GARD:7611 xref: MIM:269200 is_a: DOID:14040 ! autoimmune polyendocrine syndrome [Term] id: DOID:0050169 name: cutaneous lupus erythematosus def: "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927537/] {comment="sn:IEDB"} subset: DO_rare_slim xref: GARD:6225 is_a: DOID:37 ! skin disease is_a: DOID:8857 ! lupus erythematosus [Term] id: DOID:0050170 name: obsolete Jamestown Canyon encephalitis def: "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arboguid.pdf, url:https\://www.ncbi.nlm.nih.gov/pubmed/10451169] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050171 name: obsolete snowshoe hare encephalitis def: "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures." [url:http\://www.phac-aspc.gc.ca/publicat/ccdr-rmtc/07vol33/dr3311c-eng.php] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050172 name: obsolete trivittatus encephalitis def: "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma." [url:http\://books.google.com/books?id=GcvRX19C3C8C&pg=PA235&lpg#v=onepage&q=&f=false, url:http\://www.epi.state.nc.us/epi/gcdc/manual/casedefs/ENCEPHALITIS\,ARBOVIRAL_CD.pdf, url:http\://www.health.state.ny.us/diseases/communicable/arboviral/fact_sheet.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/10025535] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050173 name: obsolete inkoo encephalitis def: "A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures." [url:http\://birdflubook.com/resources/0Kallio-Kokkoxxx.pdf, url:http\://en.wikipedia.org/wiki/California_encephalitis_virus, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/8760424, url:https\://www.ncbi.nlm.nih.gov/pubmed/10025535] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050174 name: Kunjin encephalitis def: "A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/2552010, url:https\://www.health.nsw.gov.au/Infectious/factsheets/Pages/kunjin_virus.aspx] subset: DO_infectious_disease_slim is_a: DOID:2365 ! West Nile encephalitis [Term] id: DOID:0050175 name: tick-borne encephalitis alt_id: DOID:0050176 alt_id: DOID:10251 alt_id: DOID:10252 def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis." [url:http\://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/TBE.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: tick-borne_infectious_disease synonym: "Central European encephalitis" EXACT [] synonym: "Far Eastern TBE" EXACT [] synonym: "Russian spring-summer encephalitis" EXACT [] synonym: "Siberian tick-borne encephalitis" EXACT [] synonym: "Taiga encephalitis" EXACT [] synonym: "west-Siberian encephalitis" EXACT [] synonym: "Western European tick-borne encephalitis" EXACT [] xref: GARD:5216 xref: ICD10CM:A84.1 xref: ICD9CM:063.2 xref: MESH:D004675 xref: SNOMEDCT_US_2023_03_01:16901001 xref: UMLS_CUI:C0014054 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050177 name: monogenic disease def: "A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive." [url:https\://www.genome.gov/For-Patients-and-Families/Genetic-Disorders] subset: DO_AGR_slim subset: DO_GXD_slim is_a: DOID:630 ! genetic disease [Term] id: DOID:0050178 name: obsolete complex genetic disease def: "A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele)." [DO:wk] is_obsolete: true [Term] id: DOID:0050179 name: Powassan encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma." [url:https\://www.ncbi.nlm.nih.gov/articles/PMC5732952/] subset: DO_infectious_disease_slim subset: tick-borne_infectious_disease is_a: DOID:0050175 ! tick-borne encephalitis [Term] id: DOID:0050180 name: obsolete Colorado tick fever encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/2838146, url:https\://www.ncbi.nlm.nih.gov/pubmed/13894744] subset: tick-borne_infectious_disease is_obsolete: true [Term] id: DOID:0050181 name: obsolete Herpes simplex virus encephalitis def: "A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations." [url:http\://www.ninds.nih.gov/disorders/encephalitis_meningitis/detail_encephalitis_meningitis.htm] is_obsolete: true [Term] id: DOID:0050182 name: obsolete Varicella-zoster virus encephalitis alt_id: DOID:8698 def: "A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias." [url:http\://journals.lww.com/infectdis/Fulltext/2007/07000/Herpes_Zoster_Encephalitis__2_Case_Reports_and.19.aspx, url:https\://www.ncbi.nlm.nih.gov/pubmed/6273449] synonym: "Herpes zoster encephalitis" EXACT [] synonym: "Postchickenpox encephalitis" EXACT [] synonym: "postvaricella encephalitis" EXACT [] synonym: "Varicella Zoster Encephalitis" EXACT [] is_obsolete: true [Term] id: DOID:0050183 name: obsolete Epstein-Barr virus encephalitis def: "An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia." [url:http\://www.aafp.org/afp/20000201/letters.html, url:http\://www.cdc.gov/ncidod/eid/vol9no2/02-0218.htm] is_obsolete: true [Term] id: DOID:0050184 name: obsolete Measles virus encephalitis alt_id: DOID:9127 def: "A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia." [url:http\://www.nature.com/nrneurol/journal/v5/n3/full/ncpneuro1043.html, url:http\://www.springerlink.com/content/2020124072032058/] synonym: "Post measles encephalitis (disorder)" EXACT [] synonym: "Post-measles encephalitis" EXACT [] synonym: "postmeasles encephalitis" EXACT [] is_obsolete: true [Term] id: DOID:0050185 name: erythema multiforme def: "A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000851.htm] subset: DO_rare_slim xref: GARD:6372 xref: MESH:D004892 is_a: DOID:1205 ! allergic disease is_a: DOID:37 ! skin disease [Term] id: DOID:0050186 name: obsolete Cytomegalovirus encephalitis def: "A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8815757] is_obsolete: true [Term] id: DOID:0050187 name: obsolete Rubella virus encephalitis alt_id: DOID:9231 def: "A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/13489263] is_obsolete: true [Term] id: DOID:0050188 name: obsolete coxsackievirus encephalitis def: "An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14464001] is_obsolete: true [Term] id: DOID:0050189 name: obsolete polioencephalitis def: "An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/13436875] is_obsolete: true [Term] id: DOID:0050190 name: obsolete adenovirus encephalitis def: "An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures." [url:http\://cid.oxfordjournals.org/content/31/3/830.full, url:http\://www.medscape.com/viewarticle/414625, url:https\://www.ncbi.nlm.nih.gov/pubmed/15560392] is_obsolete: true [Term] id: DOID:0050191 name: obsolete influenza virus encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/2053792] is_obsolete: true [Term] id: DOID:0050192 name: Nipah virus encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma." [url:https\://www.cdc.gov/vhf/nipah/index.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/19141846, url:https\://www.who.int/csr/disease/nipah/en/] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050193 name: obsolete Lymphocytic choriomeningitis virus encephalitis def: "A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050194 name: Argentine hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations." [url:http\://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever, url:http\://www.jstor.org/stable/30129873?seq=1] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050195 name: Bolivian hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus machupoense, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts." [url:http\://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050196 name: Venezuelan hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus guanaritoense, which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia." [url:https\://pubmed.ncbi.nlm.nih.gov/34917387/, url:https\://pubmed.ncbi.nlm.nih.gov/7840443/] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050197 name: Brazilian hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus brazilense, which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears." [url:http\://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/18421377, url:https\://www.ncbi.nlm.nih.gov/pubmed/7905555] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050198 name: Chapare hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus chapareense. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/18421377] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050199 name: Whitewater Arroyo hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus whitewaterense, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations." [url:http\://jama.ama-assn.org/cgi/content/full/284/10/1237, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/1799746] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050200 name: Korean hemorrhagic fever def: "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload." [url:http\://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false, url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/1349231] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome [Term] id: DOID:0050201 name: nephropathia epidemica def: "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Orthohantavirus puumalaense, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1349231, url:https\://www.ncbi.nlm.nih.gov/pubmed/2574903, url:https\://www.ncbi.nlm.nih.gov/pubmed/2902106] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome [Term] id: DOID:0050202 name: lujo hemorrhagic fever def: "A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/19478873] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050203 name: obsolete Cytomegalovirus hepatitis def: "A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood." [url:http\://en.wikipedia.org/wiki/Cytomegalovirus, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/11380800, url:https\://www.ncbi.nlm.nih.gov/pubmed/4300216] is_obsolete: true [Term] id: DOID:0050204 name: Epstein-Barr virus hepatitis def: "A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16711324, url:https\://www.ncbi.nlm.nih.gov/pubmed/17602362] subset: DO_FlyBase_slim subset: DO_infectious_disease_slim is_a: DOID:1884 ! viral hepatitis is_a: DOID:2938 ! Epstein-Barr virus infectious disease [Term] id: DOID:0050205 name: obsolete Herpes simplex virus hepatitis def: "A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions." [url:http\://jcp.bmj.com/content/46/10/968.full.pdf, url:http\://www.jstor.org/stable/20396832, url:https\://www.ncbi.nlm.nih.gov/pubmed/16597901, url:https\://www.ncbi.nlm.nih.gov/pubmed/7006542] is_obsolete: true [Term] id: DOID:0050206 name: obsolete adenovirus hepatitis def: "An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage." [] is_obsolete: true [Term] id: DOID:0050207 name: obsolete Rubella virus hepatitis def: "A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis." [url:http\://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=&f=false, url:https\://www.ncbi.nlm.nih.gov/pubmed/7550869] is_obsolete: true [Term] id: DOID:0050208 name: obsolete yellow fever hepatitis def: "A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations." [url:http\://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=rubulavirus&f=false] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050209 name: obsolete Measles virus hepatitis def: "A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice." [url:http\://books.google.com/books?id=739MM_WTJREC&pg=PA275&lpg#v=onepage&q=rubulavirus&f=false, url:https\://www.ncbi.nlm.nih.gov/pubmed/17068034, url:https\://www.ncbi.nlm.nih.gov/pubmed/3417236] is_obsolete: true [Term] id: DOID:0050210 name: obsolete Varicella-zoster virus hepatitis def: "A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16944014, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/8092915] is_obsolete: true [Term] id: DOID:0050211 name: swine influenza def: "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." [url:http\://www.cdc.gov/flu/swineflu/key_facts.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/9140195] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease is_a: DOID:8469 ! influenza [Term] id: DOID:0050212 name: obsolete Campylobacter jejuni gastroenteritis def: "A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17846438] subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Campylobacter Gastroenteritis" EXACT [] is_obsolete: true [Term] id: DOID:0050213 name: obsolete Vibrio gastroenteritis def: "A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea." [url:http\://www.fda.gov/Food/FoodSafety/FoodborneIllness/FoodborneIllnessFoodbornePathogensNaturalToxins/BadBugBook/ucm070419.htm, url:http\://www.jstor.org/stable/pdfplus/30113106.pdf, url:http\://www.merck.com/mmpe/sec02/ch016/ch016a.html] subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050214 name: Lambert-Eaton myasthenic syndrome def: "A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal." [url:http\://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome] subset: NCIthesaurus synonym: "Eaton-Lambert syndrome" EXACT [] synonym: "Lambert-Eaton syndrome" EXACT [] synonym: "LEMS" EXACT OMO:0003012 [] xref: ICD10CM:G70.80 xref: ICD9CM:358.3 xref: MESH:D015624 xref: NCI:C3155 xref: SNOMEDCT_US_2023_03_01:230688006 xref: UMLS_CUI:C0022972 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system is_a: DOID:439 ! neuromuscular junction disease [Term] id: DOID:0050215 name: obsolete Staphylococcus gastroenteritis def: "A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever." [url:http\://www.merck.com/mmhe/sec09/ch122/ch122c.html, url:http\://www.springerlink.com/content/pg45520138llh128/] subset: gram-positive_bacterial_infectious_disease synonym: "Staphylococcus Aureus Gastroenteritis" EXACT [] is_obsolete: true [Term] id: DOID:0050216 name: obsolete Bacillus cereus gastroenteritis def: "A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea." [url:http\://www.jstor.org/stable/pdfplus/30112755.pdf, url:https\://www.ncbi.nlm.nih.gov/pubmed/8501338] subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050217 name: obsolete Sapovirus gastroenteritis def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea." [url:http\://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm, url:http\://www0.nih.go.jp/JJID/61/438.pdf] is_obsolete: true [Term] id: DOID:0050218 name: polycystic echinococcosis def: "An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver." [url:http\://en.wikipedia.org/wiki/Echinococcosis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm] subset: DO_infectious_disease_slim synonym: "human polycystic hydatid disease" EXACT [] synonym: "neotropical echinococcosis" EXACT [] is_a: DOID:1496 ! echinococcosis is_a: DOID:409 ! liver disease [Term] id: DOID:0050219 name: obsolete Hepeviridae infectious disease def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses." [url:http\://en.wikipedia.org/wiki/Hepeviridae, url:http\://www.expasy.org/viralzone/all_by_species/41.html] is_obsolete: true [Term] id: DOID:0050220 name: obsolete Coxiella burnetii pneumonia def: "A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission." [url:http\://en.wikipedia.org/wiki/Q_fever, url:https\://www.ncbi.nlm.nih.gov/pubmed/15021054] subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Q fever pneumonia" EXACT [] is_obsolete: true [Term] id: DOID:0050221 name: obsolete Coxiella burnetii hepatitis def: "A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice." [url:http\://www.merck.com/mmpe/sec14/ch177/ch177i.html] subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Q fever hepatitis" EXACT [] is_obsolete: true [Term] id: DOID:0050222 name: selective IgM deficiency disease def: "A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies." [url:http\://en.wikipedia.org/wiki/IgM, url:http\://en.wikipedia.org/wiki/Isolated_primary_immunoglobulin_M_deficiency] is_a: DOID:11702 ! dysgammaglobulinemia [Term] id: DOID:0050223 name: obsolete candidal gastritis def: "A candidiasis that involves inflammation of the gastric mucosa caused by Candida albicans infection. The symptoms include dyspepsia, gastric ulcers, gastric perforations, nausea and vomiting." [] is_obsolete: true [Term] id: DOID:0050224 name: obsolete Helicobacter heilmannii infectious disease def: "A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731280/pdf/v054p00774.pdf, url:https\://www.ncbi.nlm.nih.gov/pubmed/10349993] subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050225 name: obsolete Histoplasma capsulatum gastritis def: "An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds." [url:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16377536] is_obsolete: true [Term] id: DOID:0050226 name: obsolete Morganella morganii intestinal infectious disease def: "An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/17180585] subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050227 name: obsolete Vibrio cholerae O139 cholera def: "A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain." [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent] subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050228 name: obsolete amebic dysentery def: "An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever." [url:http\://www.merck.com/mmpe/sec14/ch185/ch185b.html] synonym: "amebic dysentery" EXACT [] synonym: "amoebic dysentery" EXACT [] synonym: "Entamoeba histolytica dysentery" EXACT [] is_obsolete: true [Term] id: DOID:0050229 name: obsolete Escherichia coli dysentery def: "An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration." [url:http\://emedicine.medscape.com/article/217485-overview, url:http\://www.jstor.org/stable/pdfplus/30112505.pdf] subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050230 name: obsolete intestinal capillariasis def: "A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea." [url:http\://en.wikipedia.org/wiki/Intestinal_capillariasis, url:http\://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm] is_obsolete: true [Term] id: DOID:0050231 name: obsolete hepatic capillariasis def: "A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly." [url:http\://en.wikipedia.org/wiki/Capillaria_hepatica, url:http\://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm] is_obsolete: true [Term] id: DOID:0050232 name: obsolete pulmonary capillariasis def: "A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm] is_obsolete: true [Term] id: DOID:0050233 name: obsolete Balamuthia mandrillaris infectious disease def: "A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5728a2.htm] is_obsolete: true [Term] id: DOID:0050234 name: obsolete Acanthamoeba infectious disease alt_id: DOID:11334 def: "A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system." [url:http\://en.wikipedia.org/wiki/Acanthamoeba] synonym: "free-living ameba infectious disease" EXACT [] is_obsolete: true [Term] id: DOID:0050235 name: obsolete Alveolata infectious disease def: "A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes." [url:http\://en.wikipedia.org/wiki/Alveolata] is_obsolete: true [Term] id: DOID:0050236 name: obsolete Heterolobosea infectious disease def: "A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage." [url:http\://tolweb.org/Heterolobosea/96360] is_obsolete: true [Term] id: DOID:0050237 name: obsolete Euglenozoa infectious disease def: "A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates." [url:http\://en.wikipedia.org/wiki/Euglenozoa] is_obsolete: true [Term] id: DOID:0050238 name: obsolete Parabasalia infectious disease def: "A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans." [url:http\://en.wikipedia.org/wiki/Parabasalid] is_obsolete: true [Term] id: DOID:0050239 name: obsolete Fornicata infectious disease def: "A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell." [url:http\://tolweb.org/Fornicata/121182] is_obsolete: true [Term] id: DOID:0050240 name: obsolete Trichomonadida infectious disease def: "A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole." [url:http\://en.wikipedia.org/wiki/Trichomonad] is_obsolete: true [Term] id: DOID:0050241 name: obsolete Tritrichomonadida infectious disease def: "A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/20093080] is_obsolete: true [Term] id: DOID:0050242 name: primary amebic meningoencephalitis def: "A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma." [url:http\://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis, url:http\://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim synonym: "Naegleria fowleri infection" EXACT [] xref: GARD:9554 is_a: DOID:2789 ! parasitic protozoa infectious disease is_a: DOID:331 ! central nervous system disease [Term] id: DOID:0050243 name: obsolete Apicomplexa infectious disease def: "An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans." [url:http\://en.wikipedia.org/wiki/Apicomplexa] is_obsolete: true [Term] id: DOID:0050244 name: obsolete Coccidia infectious disease def: "An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans." [url:http\://en.wikipedia.org/wiki/Coccidia] is_obsolete: true [Term] id: DOID:0050245 name: obsolete Aconoidasida infectious disease def: "An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida." [url:http\://en.wikipedia.org/wiki/Aconoidasida] is_obsolete: true [Term] id: DOID:0050246 name: granulomatous amebic encephalitis def: "A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death." [url:http\://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim synonym: "Acanthamoeba encephalitis" EXACT [] synonym: "Acanthamoeba granulomatous encephalitis" EXACT [] synonym: "Granulomatous Amebic Encephalitis due to Acanthamoeba" EXACT [] synonym: "granulomatous amoebic encephalitis" EXACT [] xref: GARD:12651 is_a: DOID:0050242 ! primary amebic meningoencephalitis is_a: DOID:936 ! brain disease [Term] id: DOID:0050247 name: obsolete parasitic stramenopiles infectious disease def: "A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms." [url:http\://en.wikipedia.org/wiki/Stramenopiles] is_obsolete: true [Term] id: DOID:0050249 name: obsolete Brugia timori filariasis def: "A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema." [url:http\://en.wikipedia.org/wiki/Brugia_timori] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050250 name: philophthalmiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Philophthalmiasis.htm] subset: DO_infectious_disease_slim is_a: DOID:5614 ! eye disease is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:0050251 name: coenurosis def: "A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections." [url:https\://en.wikipedia.org/wiki/Coenurosis, url:https\://www.cdc.gov/dpdx/coenurosis/index.html] subset: DO_infectious_disease_slim is_a: DOID:331 ! central nervous system disease is_a: DOID:37 ! skin disease is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:0050252 name: obsolete Dipylidium caninum infectious disease def: "A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness." [url:http\://en.wikipedia.org/wiki/Dipylidium_caninum, url:http\://www.dpd.cdc.gov/dpdx/HTML/Dipylidium.htm] is_obsolete: true [Term] id: DOID:0050253 name: mesocestoidiasis def: "A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm] subset: DO_infectious_disease_slim is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:0050254 name: acanthocephaliasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools." [url:https\://www.cdc.gov/dpdx/acanthocephaliasis/index.html] subset: DO_infectious_disease_slim is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:0050255 name: obsolete Uncinaria stenocephala infectious disease def: "A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections." [url:http\://en.wikipedia.org/wiki/Uncinaria_stenocephala] is_obsolete: true [Term] id: DOID:0050256 name: angiostrongyliasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis." [url:https\://en.wikipedia.org/wiki/Angiostrongyliasis] subset: DO_infectious_disease_slim subset: DO_rare_slim xref: GARD:683 xref: MESH:C536369 is_a: DOID:331 ! central nervous system disease is_a: DOID:5295 ! intestinal disease is_a: DOID:5614 ! eye disease is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:0050257 name: obsolete Angiostrongylus cantonensis infectious disease def: "An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur." [] is_obsolete: true [Term] id: DOID:0050258 name: obsolete Angiostrongylus costaricensis infectious disease def: "An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/5527668] is_obsolete: true [Term] id: DOID:0050259 name: baylisascariasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death." [url:https\://en.wikipedia.org/wiki/Baylisascaris] subset: DO_infectious_disease_slim is_a: DOID:319 ! spinal cord disease is_a: DOID:5295 ! intestinal disease is_a: DOID:5614 ! eye disease is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:936 ! brain disease [Term] id: DOID:0050260 name: dioctophymiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm] subset: DO_infectious_disease_slim is_a: DOID:37 ! skin disease is_a: DOID:557 ! kidney disease is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:0050261 name: thelaziasis def: "A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm] subset: DO_infectious_disease_slim is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:0050262 name: obsolete Acoelomata infectious disease def: "A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity." [url:http\://en.wikipedia.org/wiki/Flatworm] is_obsolete: true [Term] id: DOID:0050263 name: obsolete Pseudocoelomata infectious disease def: "A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals." [url:http\://en.wikipedia.org/wiki/Body_cavity] is_obsolete: true [Term] id: DOID:0050264 name: obsolete Acanthocephala infectious disease def: "A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host." [url:http\://en.wikipedia.org/wiki/Acanthocephala] is_obsolete: true [Term] id: DOID:0050265 name: obsolete tick paralysis is_obsolete: true [Term] id: DOID:0050266 name: tungiasis def: "A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo." [url:http\://en.wikipedia.org/wiki/Tungiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim xref: GARD:393 xref: MESH:D058285 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease [Term] id: DOID:0050267 name: obsolete Ancylostoma caninum ancylostomiasis is_obsolete: true [Term] id: DOID:0050268 name: ophthalmomyiasis def: "A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain." [url:http\://en.wikipedia.org/wiki/Myiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm] subset: DO_infectious_disease_slim is_a: DOID:11080 ! myiasis is_a: DOID:5614 ! eye disease [Term] id: DOID:0050269 name: Trichomonas vaginalis trichomoniasis def: "A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge." [url:http\://en.wikipedia.org/wiki/Trichomoniasis] subset: DO_IEDB_slim subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "urogenital trichomonas" EXACT [] xref: ICD10CM:A59.00 xref: MESH:D014247 xref: NCI:C35083 is_a: DOID:121 ! vaginal disease is_a: DOID:1947 ! trichomoniasis is_a: DOID:2059 ! vulvar disease is_a: DOID:2253 ! cervix disease is_a: DOID:732 ! urethral disease [Term] id: DOID:0050270 name: Trichomonas tenax trichomoniasis def: "A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx." [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/20427914] subset: DO_IEDB_slim subset: DO_infectious_disease_slim is_a: DOID:1947 ! trichomoniasis is_a: DOID:403 ! mouth disease [Term] id: DOID:0050271 name: obsolete cutaneous ascomycota mycosis def: "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members." [url:http\://en.wikipedia.org/wiki/Ascomycota] is_obsolete: true [Term] id: DOID:0050272 name: obsolete cutaneous basidiomycota mycosis def: "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members." [url:http\://en.wikipedia.org/wiki/Basidiomycota] is_obsolete: true [Term] id: DOID:0050273 name: obsolete Neoscytalidium dimidiatum infectious disease def: "A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed." [url:http\://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/17641983] is_obsolete: true [Term] id: DOID:0050274 name: obsolete Scopulariopsis infectious disease def: "An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals." [url:http\://www.doctorfungus.org/thefungi/scopulariopsis.htm] is_obsolete: true [Term] id: DOID:0050275 name: obsolete onychomycosis def: "A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed." [url:http\://en.wikipedia.org/wiki/Onychomycosis, url:http\://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis] is_obsolete: true [Term] id: DOID:0050276 name: obsolete subcutaneous ascomycota mycosis def: "A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members." [url:http\://en.wikipedia.org/wiki/Ascomycota, url:http\://en.wikipedia.org/wiki/Mycosis] is_obsolete: true [Term] id: DOID:0050277 name: obsolete subcutaneous fungi incertae sedis mycosis def: "A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members." [url:http\://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Tree&id=112252&lvl=3&lin=f&keep=1&srchmode=1&unlock] is_obsolete: true [Term] id: DOID:0050278 name: basidiobolomycosis def: "A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated." [url:http\://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/] subset: DO_infectious_disease_slim is_a: DOID:0050135 ! subcutaneous mycosis [Term] id: DOID:0050279 name: conidiobolomycosis def: "An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions." [url:http\://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/] subset: DO_infectious_disease_slim is_a: DOID:0050135 ! subcutaneous mycosis [Term] id: DOID:0050280 name: obsolete superficial ascomycota mycosis def: "A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members." [url:http\://en.wikipedia.org/wiki/Ascomycota] is_obsolete: true [Term] id: DOID:0050281 name: obsolete superficial basidiomycota mycosis def: "A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members." [url:http\://en.wikipedia.org/wiki/Basidiomycota] is_obsolete: true [Term] id: DOID:0050282 name: obsolete primary systemic ascomycota mycosis def: "A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members." [url:http\://en.wikipedia.org/wiki/Ascomycota, url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/] is_obsolete: true [Term] id: DOID:0050283 name: obsolete Stachybotrys infectious disease def: "A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants." [url:http\://ntp.niehs.nih.gov/ntp/htdocs/Chem_Background/ExSumPdf/Stachybotrys.pdf, url:http\://www.doh.wa.gov/ehp/ts/iaq/mold-stachybotrys.pdf] is_obsolete: true [Term] id: DOID:0050284 name: obsolete opportunistic ascomycota mycosis def: "An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota." [url:http\://en.wikipedia.org/wiki/Ascomycota, url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/] is_obsolete: true [Term] id: DOID:0050285 name: obsolete opportunistic basidiomycota mycosis def: "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members." [url:http\://en.wikipedia.org/wiki/Basidiomycota, url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/] is_obsolete: true [Term] id: DOID:0050286 name: obsolete opportunistic fungi incertae sedis mycosis def: "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members." [url:http\://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Tree&id=112252&lvl=3&lin=f&keep=1&srchmode=1&unlock] is_obsolete: true [Term] id: DOID:0050287 name: obsolete opportunistic microsporidia mycosis def: "An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members." [url:http\://en.wikipedia.org/wiki/Microsporidia, url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/] is_obsolete: true [Term] id: DOID:0050288 name: penicilliosis def: "An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16418525] subset: DO_infectious_disease_slim is_a: DOID:2473 ! opportunistic mycosis [Term] id: DOID:0050289 name: fusariosis def: "An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14748803] subset: DO_infectious_disease_slim xref: MESH:D060585 is_a: DOID:2473 ! opportunistic mycosis [Term] id: DOID:0050290 name: trichosporonosis def: "An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body." [url:https\://en.wikipedia.org/wiki/Trichosporonosis] subset: DO_infectious_disease_slim xref: MESH:D060586 is_a: DOID:2473 ! opportunistic mycosis [Term] id: DOID:0050291 name: parasitic Ichthyosporea infectious disease def: "A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals." [url:http\://en.wikipedia.org/wiki/Mesomycetozoea] subset: DO_infectious_disease_slim is_a: DOID:1398 ! parasitic infectious disease [Term] id: DOID:0050292 name: primary systemic mycosis def: "A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract." [url:http\://mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/] subset: DO_infectious_disease_slim is_a: DOID:0050136 ! systemic mycosis [Term] id: DOID:0050293 name: obsolete Scopulariopsis brevicaulis infectious disease def: "An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed." [url:http\://www.doctorfungus.org/thefungi/Scopulariopsis_brevicaulis.htm] is_obsolete: true [Term] id: DOID:0050294 name: obsolete Scytalidium hyalinum infectious disease def: "A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface." [url:http\://archderm.ama-assn.org/cgi/reprint/127/7/1041.pdf, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/444431] is_obsolete: true [Term] id: DOID:0050295 name: obsolete cutaneous sporotrichosis def: "A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain." [url:http\://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/, url:http\://www.doctorfungus.org/mycoses/human/sporo/sporotrichosis.htm] synonym: "plaque sporotrichosis" EXACT [] is_obsolete: true [Term] id: DOID:0050296 name: obsolete Asfarviridae infectious disease def: "A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite." [url:http\://en.wikipedia.org/wiki/Asfarviridae] is_obsolete: true [Term] id: DOID:0050297 name: obsolete primary Francisellaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050298 name: obsolete adenovirus infectious disease alt_id: DOID:3123 alt_id: DOID:3124 def: "A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses." [url:http\://en.wikipedia.org/wiki/Adenoviridae] synonym: "Adenoviridae infectious disease" EXACT [] is_obsolete: true [Term] id: DOID:0050299 name: obsolete Simplexvirus infectious disease def: "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus." [url:http\://en.wikipedia.org/wiki/Simplexvirus] is_obsolete: true [Term] id: DOID:0050300 name: obsolete Deltavirus infectious disease def: "A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus." [url:http\://en.wikipedia.org/wiki/Deltavirus] is_obsolete: true [Term] id: DOID:0050301 name: obsolete Polyomaviridae infectious disease def: "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses." [url:http\://en.wikipedia.org/wiki/Papillomaviridae] is_obsolete: true [Term] id: DOID:0050302 name: obsolete Varicellovirus infectious disease def: "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus." [url:http\://en.wikipedia.org/wiki/Varicellovirus, url:http\://www.expasy.org/viralzone/all_by_species/179.html] is_obsolete: true [Term] id: DOID:0050303 name: obsolete Hepacivirus infectious disease def: "A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion." [url:http\://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf, url:http\://www.expasy.org/viralzone/all_by_species/37.html] is_obsolete: true [Term] id: DOID:0050304 name: aniseikonia def: "A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes." [url:https\://en.wikipedia.org/wiki/Aniseikonia] xref: MESH:D000839 is_a: DOID:9835 ! refractive error [Term] id: DOID:0050305 name: obsolete Arteriviridae infectious disease def: "A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses." [url:http\://www.expasy.org/viralzone/all_by_species/28.html] is_obsolete: true [Term] id: DOID:0050306 name: obsolete familial abdominal aortic aneurysm comment: OMIM mapping confirmed by DO. [SN]. is_obsolete: true [Term] id: DOID:0050307 name: obsolete Bornaviridae infectious disease def: "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses." [url:http\://en.wikipedia.org/wiki/Bornaviridae] is_obsolete: true [Term] id: DOID:0050308 name: Alkhurma hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever." [url:http\://en.wikipedia.org/wiki/Alkhurma_virus] subset: DO_infectious_disease_slim subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease is_a: DOID:11320 ! Kyasanur forest disease [Term] id: DOID:0050309 name: obsolete Measles virus infectious disease def: "A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person." [url:http\://en.wikipedia.org/wiki/Measles] is_obsolete: true [Term] id: DOID:0050310 name: obsolete primary Listeriaceae infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050311 name: obsolete primary Helicobacteraceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050312 name: obsolete primary Campylobacteraceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050313 name: obsolete primary Brucellaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050314 name: obsolete primary Erysipelotrichaceae infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050315 name: obsolete commensal Clostridiaceae infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050316 name: obsolete commensal Staphylococcaceae infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050317 name: obsolete commensal Streptococcaceae infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050318 name: obsolete primary Burkholderiaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050319 name: obsolete primary Legionellaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050320 name: obsolete commensal Alcaligenaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050321 name: obsolete opportunistic Pseudomonadaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050322 name: obsolete primary Vibrionaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050323 name: obsolete primary Coxiellaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050324 name: obsolete physical disorder OBSOLETED TERM def: "A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM)." [url:http\://en.wikipedia.org/wiki/Physical_disorder] is_obsolete: true [Term] id: DOID:0050325 name: obsolete genetic disorder def: "A medical disorder that is an illness caused by abnormalities in genes or chromosomes." [url:http\://en.wikipedia.org/wiki/Genetic_disorder, url:http\://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml] is_obsolete: true [Term] id: DOID:0050327 name: obsolete peripheral dysostosis comment: OMIM mapping confirmed by DO. [SN]. synonym: "Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation" EXACT [] is_obsolete: true [Term] id: DOID:0050328 name: congenital hypothyroidism alt_id: DOID:11631 alt_id: DOID:11632 def: "A hypothyroidism that is present at birth." [url:http\://en.wikipedia.org/wiki/Congenital_hypothyroidism, url:http\://ghr.nlm.nih.gov/condition/congenital-hypothyroidism] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:1487 xref: ICD10CM:E00.1 xref: ICD10CM:E03.1 xref: ICD9CM:243 xref: MESH:D003409 xref: MIM:PS275200 xref: NCI:C26734 xref: NCI:C98921 xref: SNOMEDCT_US_2023_03_01:217710005 xref: SNOMEDCT_US_2023_03_01:75065003 xref: UMLS_CUI:C0010308 xref: UMLS_CUI:C0342200 is_a: DOID:0080015 ! physical disorder is_a: DOID:1459 ! hypothyroidism [Term] id: DOID:0050329 name: obsolete mental disorder def: "A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture." [url:http\://en.wikipedia.org/wiki/Classification_of_mental_disorders, url:http\://en.wikipedia.org/wiki/Mental_disorder] is_obsolete: true [Term] id: DOID:0050331 name: lacrimoauriculodentodigital syndrome 1 def: "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." [url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome] comment: OMIM mapping confirmed by DO. [SN]. synonym: "Lacrimo-auriculo-dento-digital syndrome 1" EXACT [] synonym: "LEVY-HOLLISTER SYNDROME" EXACT [] xref: MIM:149730 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081370 ! LADD syndrome [Term] id: DOID:0050332 name: enlarged vestibular aqueduct def: "A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts." [url:https\://en.wikipedia.org/wiki/Enlarged_vestibular_aqueduct] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:8651 is_a: DOID:3426 ! vestibular disease [Term] id: DOID:0050333 name: obsolete congenital anosmia is_obsolete: true [Term] id: DOID:0050334 name: obsolete thiourea tasting synonym: "PHENYLTHIOCARBAMIDE TASTING, INCLUDED" EXACT [] synonym: "PROPYLTHIOURACIL TASTING, INCLUDED" EXACT [] is_obsolete: true [Term] id: DOID:0050335 name: bradyopsia def: "A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions." [url:https\://medlineplus.gov/genetics/condition/bradyopsia/, url:https\://www.ncbi.nlm.nih.gov/pubmed/17826834] subset: DO_rare_slim synonym: "prolonged electroretinal response suppression" EXACT [] xref: GARD:12299 xref: MESH:C564243 xref: MIM:PS608415 xref: ORDO:75374 xref: SNOMEDCT_US_2023_03_01:711163009 xref: UMLS_CUI:C1842073 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5679 ! retinal disease [Term] id: DOID:0050336 name: hypophosphatemia def: "A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis." [url:https\://en.wikipedia.org/wiki/Hypophosphatemia] xref: MESH:D017674 is_a: DOID:2485 ! phosphorus metabolism disease [Term] id: DOID:0050337 name: obsolete Burkholderia cepacia infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050338 name: primary bacterial infectious disease def: "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread." [url:http\://en.wikipedia.org/wiki/Infectious_disease] subset: DO_FlyBase_slim subset: DO_infectious_disease_slim is_a: DOID:104 ! bacterial infectious disease [Term] id: DOID:0050339 name: commensal bacterial infectious disease def: "A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder." [url:https\://www.microbiologyinpictures.com/introduction.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/24727150] subset: DO_infectious_disease_slim is_a: DOID:104 ! bacterial infectious disease [Term] id: DOID:0050340 name: opportunistic bacterial infectious disease def: "A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised." [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545] subset: DO_FlyBase_slim subset: DO_infectious_disease_slim is_a: DOID:104 ! bacterial infectious disease [Term] id: DOID:0050341 name: obsolete opportunistic Actinomycetales infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050342 name: obsolete commensal Actinomycetales infectious disease def: "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora." [url:http\://www.sovegastro.com/pdf/ACTINOMICOSIS%20ABDOMINAL.pdf] subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050343 name: obsolete Gardnerella vaginalis vaginosis is_obsolete: true [Term] id: DOID:0050344 name: obsolete commensal Bifidobacteriaceae infectious disease is_obsolete: true [Term] id: DOID:0050345 name: obsolete primary Thermomonosporaceae infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050346 name: obsolete primary Corynebacteriaceae infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050347 name: obsolete primary Mycobacteriaceae infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050348 name: obsolete primary Streptomycetaceae infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050349 name: obsolete opportunistic Nocardiaceae infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050350 name: obsolete primary Clostridiaceae infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050351 name: obsolete primary Clostridium infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050352 name: foodborne botulism def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis." [url:https\://www.southernnevadahealthdistrict.org/Health-Topics/foodborne-botulism/] subset: DO_infectious_disease_slim subset: GOLD subset: gram-positive_bacterial_infectious_disease is_a: DOID:11976 ! botulism [Term] id: DOID:0050353 name: wound botulism def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins." [url:http\://www.who.int/mediacentre/factsheets/fs270/en/] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease is_a: DOID:11976 ! botulism [Term] id: DOID:0050354 name: infant botulism def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness." [url:https\://www.aafp.org/afp/2002/0401/p1388.html] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease is_a: DOID:11976 ! botulism [Term] id: DOID:0050355 name: obsolete opportunistic Burkholderiaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050357 name: obsolete Burkholderia cenocepacia infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050358 name: obsolete commensal Chlamydiaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050359 name: obsolete Bilophila wadsworthia necrotizing fasciitis subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050360 name: obsolete commensal Enterobacteriaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050361 name: obsolete opportunistic Enterobacteriaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050362 name: obsolete Elizabethkingia meningoseptica infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050363 name: obsolete Capnocytophaga canimorsus infectious disease subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050364 name: obsolete opportunistic Flavobacteriaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050365 name: obsolete Chryseobacterium indologenes infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050366 name: obsolete Empedobacter brevis endophthalmitis subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050367 name: obsolete Myroides odoratus necrotizing fasciitis subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050368 name: obsolete commensal Fusobacteriaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050369 name: obsolete primary Mycoplasmataceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050370 name: obsolete commensal Neisseriaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050371 name: obsolete commensal Pasteurellaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050372 name: obsolete commensal Haemophilus infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050373 name: obsolete Leptospiraceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050374 name: obsolete Spirochaetaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050375 name: obsolete primary Spirillaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050376 name: obsolete anaplasmosis subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050377 name: obsolete Burkholderia cepacia complex infectious disease alt_id: DOID:0050356 is_obsolete: true [Term] id: DOID:0050378 name: obsolete opportunistic Campylobacteraceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050379 name: obsolete Campylobacter fetus infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050380 name: obsolete Campylobacter coli infectious disease subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050381 name: obsolete Chlamydia trachomatis epididymitis is_obsolete: true [Term] id: DOID:0050382 name: glandular tularemia def: "A tularemia that results_in swelling of regional lymph glands." [url:http\://www.cdc.gov/tularemia/signssymptoms/] subset: DO_infectious_disease_slim is_a: DOID:2123 ! tularemia [Term] id: DOID:0050383 name: typhoidal tularemia def: "A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29635071] subset: DO_infectious_disease_slim is_a: DOID:2123 ! tularemia [Term] id: DOID:0050384 name: obsolete commensal Helicobacteraceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050385 name: obsolete commensal Helicobacter infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050386 name: obsolete Acinetobacter baumannii pneumonia subset: GOLD subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050387 name: nonpapillary renal cell carcinoma def: "A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2921777, url:https\://www.ncbi.nlm.nih.gov/pubmed/8415591] comment: OMIM mapping confirmed by DO. [SN]. xref: MIM:144700 is_a: DOID:4455 ! hereditary renal cell carcinoma [Term] id: DOID:0050388 name: obsolete Bacteroides fragilis peritonitis subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050389 name: obsolete Capnocytophaga canimorsus meningitis subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050390 name: obsolete Capnocytophaga canimorsus endocarditis subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050391 name: obsolete Elizabethkingia meningoseptica meningitis subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050392 name: obsolete streptococcal necrotizing fasciitis subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050393 name: obsolete Chryseobacterium indologenes pneumonia subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050394 name: obsolete nocardial pneumonia is_obsolete: true [Term] id: DOID:0050395 name: obsolete nocardial cellulitis is_obsolete: true [Term] id: DOID:0050396 name: obsolete nocardial keratitis is_obsolete: true [Term] id: DOID:0050397 name: obsolete cerebral Bilophila wadsworthia infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050398 name: Carrion's disease def: "A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed." [url:http\://en.wikipedia.org/wiki/Carrion%27s_disease] subset: DO_infectious_disease_slim synonym: "Carrion disease" EXACT [] synonym: "Oroya fever" EXACT [] is_a: DOID:11102 ! bartonellosis [Term] id: DOID:0050399 name: obsolete Bordetella pertussis whooping cough subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050400 name: obsolete Pseudomonas urinary tract infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050401 name: obsolete Pseudomonas endocarditis subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050402 name: obsolete Pseudomonas keratitis subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050403 name: obsolete commensal Mycoplasmatales infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050404 name: obsolete commensal Mycoplasmataceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050405 name: obsolete Mycoplasma genitalium urethritis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease is_obsolete: true [Term] id: DOID:0050406 name: obsolete Yersinia pseudotuberculosis mesenteric lymphadenitis subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050407 name: obsolete commensal Mycoplasma infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050408 name: obsolete Staphylococcus aureus ecthyma is_obsolete: true [Term] id: DOID:0050409 name: obsolete Streptococcus pyogenes ecthyma subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050410 name: obsolete streptococcal erysipelas subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050411 name: obsolete Staphylococcus aureus erysipelas is_obsolete: true [Term] id: DOID:0050412 name: obsolete Streptococcus impetigo subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050413 name: obsolete Staphylococcus aureus impetigo is_obsolete: true [Term] id: DOID:0050414 name: obsolete Streptococcus lymphangitis subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050415 name: obsolete Staphylococcus aureus lymphangitis is_obsolete: true [Term] id: DOID:0050416 name: obsolete Streptococcus agalactiae meningitis subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050417 name: obsolete Streptococcus equisimilis meningitis subset: gram-positive_bacterial_infectious_disease synonym: "Streptococcus dysgalactiae subsp. equisimilis meningitis" EXACT [] is_obsolete: true [Term] id: DOID:0050418 name: obsolete Streptococcus zooepidemicus meningitis subset: gram-positive_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Streptococcus equi subsp. zooepidemicus meningitis" EXACT [] is_obsolete: true [Term] id: DOID:0050419 name: complement factor I deficiency def: "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency." [url:https\://www.omim.org/entry/610984] comment: OMIM mapping confirmed by DO. [SN]. synonym: "C3 INACTIVATOR DEFICIENCY" EXACT [] synonym: "COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY" EXACT [] xref: MESH:C572568 xref: MIM:610984 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0050420 name: obsolete primary Streptococcaceae infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050421 name: obsolete primary streptococcal infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050422 name: obsolete Yersinia pseudotuberculosis gastroenteritis subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050423 name: obsolete enteroaggregative Escherichia coli infectious disease synonym: "enteroaggregative E.coli infection" EXACT [] is_obsolete: true [Term] id: DOID:0050424 name: familial adenomatous polyposis def: "An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer." [url:http\://en.wikipedia.org/wiki/Familial_adenomatous_polyposis, url:http\://www.omim.org/entry/175100?search=adenomatous%20polyposis] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "adenomatous polyposis of the colon" EXACT [] xref: GARD:6408 xref: MESH:D011125 xref: MIM:PS175100 xref: NCI:C3339 xref: ORDO:733 xref: SNOMEDCT_US_2023_03_01:72900001 xref: UMLS_CUI:C0032580 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:5295 ! intestinal disease [Term] id: DOID:0050425 name: restless legs syndrome def: "A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them." [url:http\://en.wikipedia.org/wiki/Restless_legs_syndrome, url:http\://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "WED" EXACT OMO:0003012 [] synonym: "Willis-Ekbom disease" EXACT [] synonym: "Wittmaack-Ekbom syndrome" EXACT [] xref: EFO:0004270 xref: GARD:11926 xref: ICD10CM:G25.81 xref: ICD9CM:333.94 xref: MESH:D012148 xref: MIM:PS102300 xref: NCI:C84501 xref: SNOMEDCT_US_2023_03_01:32914008 xref: UMLS_CUI:C0035258 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:0050426 name: Stevens-Johnson syndrome def: "A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection." [url:https\://en.wikipedia.org/wiki/Stevens%E2%80%93Johnson_syndrome] subset: DO_rare_slim subset: NCIthesaurus xref: EFO:0004276 xref: GARD:7700 xref: ICD10CM:L51.1 xref: ICD9CM:695.13 xref: MESH:D013262 xref: NCI:C79484 xref: SNOMEDCT_US_2023_03_01:73442001 xref: UMLS_CUI:C0038325 is_a: DOID:37 ! skin disease property_value: exactMatch "MESH:D013262" xsd:string [Term] id: DOID:0050427 name: xeroderma pigmentosum def: "A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair." [url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7910 xref: ICD10CM:Q82.1 xref: MESH:D014983 xref: NCI:C3452 xref: ORDO:910 xref: SNOMEDCT_US_2023_03_01:44600005 xref: UMLS_CUI:C0043346 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050428 name: nonepidermolytic palmoplantar keratoderma def: "A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles." [url:http\://en.wikipedia.org/wiki/Palmoplantar_keratoderma] subset: DO_rare_slim synonym: "diffuse nonepidermolytic palmomplantar keratoderma" EXACT [] synonym: "NEPPK" EXACT OMO:0003012 [] synonym: "Thost-Unna Syndrome" EXACT [] synonym: "tylosis" EXACT [] synonym: "Unna-Thost Syndrome" EXACT [] xref: MESH:C563422 xref: UMLS_CUI:C1833030 is_a: DOID:3390 ! palmoplantar keratosis property_value: exactMatch "MESH:C563422" xsd:string property_value: exactMatch "UMLS_CUI:C1833030" xsd:string [Term] id: DOID:0050429 name: Hailey-Hailey disease def: "A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected." [url:https\://rarediseases.org/rare-diseases/hailey-hailey-disease/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "BENIGN CHRONIC PEMPHIGUS" EXACT [] synonym: "Pemphigus, Benign Familial" EXACT [] xref: GARD:6559 xref: ICD10CM:Q82.8 xref: MESH:D016506 xref: MIM:169600 xref: NCI:C82865 xref: SNOMEDCT_US_2023_03_01:79468000 xref: UMLS_CUI:C0085106 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9182 ! pemphigus [Term] id: DOID:0050430 name: multiple endocrine neoplasia type 2A def: "A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis." [url:http\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, url:http\://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/15965261, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "MEN2A" EXACT OMO:0003012 [] synonym: "multiple endocrine neoplasia II" EXACT [] synonym: "Sipple syndrome" EXACT [] xref: ICD10CM:E31.22 xref: ICD9CM:258.02 xref: MESH:D018813 xref: MIM:171400 xref: NCI:C3226 xref: ORDO:247698 xref: SNOMEDCT_US_2023_03_01:721188000 xref: UMLS_CUI:C0025268 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3125 ! multiple endocrine neoplasia [Term] id: DOID:0050431 name: arrhythmogenic right ventricular cardiomyopathy def: "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle." [url:http\://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia, url:http\://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy, url:http\://my.clevelandclinic.org/services/heart/disorders/arvd, url:http\://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html, url:https\://pubmed.ncbi.nlm.nih.gov/31637441/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "arrhythmogenic right ventricular dysplasia" EXACT [] synonym: "arrhythmogenic right ventricular dysplasia/cardiomyopathy" EXACT [] synonym: "ARVC" EXACT OMO:0003012 [] synonym: "ARVC cardiomyopathy" EXACT [] synonym: "ARVD" EXACT OMO:0003012 [] synonym: "right ventricular ACM" EXACT [] xref: MESH:D019571 xref: MIM:PS107970 xref: NCI:C84571 xref: ORDO:217656 xref: ORDO:247 xref: SNOMEDCT_US_2023_03_01:281170005 xref: UMLS_CUI:C0349788 is_a: DOID:0060036 ! intrinsic cardiomyopathy [Term] id: DOID:0050432 name: Asperger syndrome def: "An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development." [url:http\://en.wikipedia.org/wiki/Asperger_syndrome, url:http\://www.neurodevnet.ca] comment: Multiple OMIM IDs are susceptibility terms [LS] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5855 xref: ICD10CM:F84.5 xref: MESH:D020817 xref: MIM:608631 xref: MIM:608638 xref: MIM:608781 xref: MIM:609954 xref: MIM:PS608638 xref: NCI:C97159 xref: ORDO:1162 xref: SNOMEDCT_US_2023_03_01:154879004 xref: UMLS_CUI:C0236792 is_a: DOID:0060041 ! autism spectrum disorder [Term] id: DOID:0050433 name: fatal familial insomnia def: "A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain." [url:https\://en.wikipedia.org/wiki/Fatal_familial_insomnia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6429 xref: ICD10CM:A81.83 xref: ICD9CM:046.72 xref: MESH:D034062 xref: MIM:600072 xref: NCI:C84711 xref: SNOMEDCT_US_2023_03_01:83157008 xref: UMLS_CUI:C0206042 is_a: DOID:649 ! prion disease [Term] id: DOID:0050434 name: Andersen-Tawil syndrome def: "A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly." [url:http\://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome, url:http\://en.wikipedia.org/wiki/Long_QT_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS" EXACT [] synonym: "Andersen syndrome" EXACT [] synonym: "Long QT syndrome 7" EXACT [] synonym: "LQT7" EXACT OMO:0003012 [] synonym: "Potassium-Sensitive Cardiodysrhythmic Type" EXACT [] xref: GARD:9453 xref: MESH:D050030 xref: MIM:170390 xref: NCI:C84559 xref: ORDO:37553 xref: SNOMEDCT_US_2023_03_01:422348008 xref: UMLS_CUI:C1563715 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0050436 name: mulibrey nanism def: "A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene." [url:https\://rarediseases.org/rare-diseases/mulibrey-nanism/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "MUL" EXACT OMO:0003012 [] synonym: "Mulibrey growth disorder" EXACT [] synonym: "Muscle-Liver-Brain-Eye Nanism" EXACT [] synonym: "Perheentupa Syndrome" EXACT [] synonym: "PERICARDIAL CONSTRICTION AND GROWTH FAILURE" EXACT [] xref: GARD:95 xref: MESH:D050336 xref: MIM:253250 xref: NCI:C84906 xref: ORDO:2576 xref: SNOMEDCT_US_2023_03_01:81604003 xref: UMLS_CUI:C0524582 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050437 name: Danon disease def: "A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene." [url:https\://rarediseases.org/rare-diseases/danon-disease/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "ANTOPOL DISEASE" EXACT [] synonym: "PSEUDOGLYCOGENOSIS II" EXACT [] xref: GARD:9730 xref: MESH:D052120 xref: MIM:300257 xref: NCI:C84735 xref: SNOMEDCT_US_2023_03_01:419097006 xref: UMLS_CUI:C0878677 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:0050438 name: Frasier syndrome def: "A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene." [url:https\://ghr.nlm.nih.gov/condition/frasier-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:2375 xref: MESH:D052159 xref: MIM:136680 xref: NCI:C122805 xref: SNOMEDCT_US_2023_03_01:445431000 xref: UMLS_CUI:C0950122 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050439 name: Usher syndrome def: "A syndrome characterized by a combination of hearing loss and visual impairment." [url:http\://en.wikipedia.org/wiki/Usher_syndrome] comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7843 xref: MESH:D052245 xref: MIM:PS276900 xref: NCI:C85217 xref: ORDO:886 xref: SNOMEDCT_US_2023_03_01:57838006 xref: UMLS_CUI:C0271097 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050440 name: familial partial lipodystrophy def: "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." [url:http\://en.wikipedia.org/wiki/Familial_partial_lipodystrophy, url:http\://omim.org/entry/608600] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Dunnigan Syndrome" EXACT [] synonym: "Koberling-Dunnigan Syndrome" EXACT [] xref: GARD:11962 xref: MESH:D052496 xref: MIM:PS151660 xref: NCI:C165527 xref: NCI:C84708 xref: ORDO:98306 xref: SNOMEDCT_US_2023_03_01:1197745002 xref: SNOMEDCT_US_2023_03_01:49292002 xref: SNOMEDCT_US_2023_03_01:715439000 xref: SNOMEDCT_US_2023_03_01:725035001 xref: UMLS_CUI:C0271694 xref: UMLS_CUI:C1720859 xref: UMLS_CUI:C1720860 xref: UMLS_CUI:C1720861 is_a: DOID:0080299 ! partial lipodystrophy [Term] id: DOID:0050441 name: mucosulfatidosis def: "A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes." [url:https\://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "multiple sulfatase deficiency disease" EXACT [] synonym: "Sulfatidosis, Juvenile, Austin Type" EXACT [] xref: ICD10CM:E75.26 xref: MESH:D052517 xref: MIM:272200 xref: NCI:C84908 xref: SNOMEDCT_US_2023_03_01:254076009 xref: SNOMEDCT_US_2023_03_01:54898003 xref: UMLS_CUI:C0268263 xref: UMLS_CUI:C1720864 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1927 ! sphingolipidosis [Term] id: DOID:0050444 name: infantile Refsum disease def: "A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes." [url:https\://en.wikipedia.org/wiki/Infantile_Refsum_disease, url:https\://www.ncbi.nlm.nih.gov/books/NBK560618/] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "infantile phytanic acid storage disease" EXACT [] xref: ICD10CM:G60.1 xref: MESH:D052919 xref: NCI:C84789 xref: SNOMEDCT_US_2023_03_01:238062008 xref: UMLS_CUI:C0282527 is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0050445 name: X-linked dominant hypophosphatemic rickets def: "A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization." [url:http\://en.wikipedia.org/wiki/X-linked_hypophosphatemia, url:https\://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Hypophosphatemia, Vitamin D-Resistant Rickets" EXACT [] synonym: "hypophosphatemic rickets X-linked dominant" EXACT [] synonym: "Vitamin D-Resistant Rickets, X-Linked" EXACT [] synonym: "X-linked hypophosphatemia" EXACT [] xref: MESH:D053098 xref: MIM:307800 xref: NCI:C85234 xref: UMLS_CUI:C0733682 xref: UMLS_CUI:C1845168 xref: UMLS_CUI:C3540852 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:10609 ! rickets [Term] id: DOID:0050448 name: white sponge nevus def: "A skin disease characterized by a defect in the normal process of keratinization of the mucosa." [url:http\://en.wikipedia.org/wiki/White_sponge_nevus, url:https\://pubmed.ncbi.nlm.nih.gov/29034652/] comment: 2023 nomenclature update to white sponge nevus. subset: DO_rare_slim subset: NCIthesaurus synonym: "hereditary mucosal leukokeratosis" EXACT [] synonym: "white sponge nevus of Cannon" EXACT [] xref: GARD:8501 xref: MESH:D053529 xref: MIM:PS193900 xref: NCI:C84760 xref: ORDO:171723 xref: SNOMEDCT_US_2023_03_01:85388002 xref: UMLS_CUI:C1721005 is_a: DOID:37 ! skin disease [Term] id: DOID:0050449 name: pachyonychia congenita def: "A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin." [url:https\://ghr.nlm.nih.gov/condition/pachyonychia-congenita] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Jackson-Lawler Type Pachyonychia Congenita" EXACT [] synonym: "Jadassohn-Lewandowsky Syndrome" EXACT [] synonym: "Pachyonychia Congenita Type 1" EXACT [] synonym: "PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE" EXACT [] xref: GARD:10753 xref: MESH:D053549 xref: MIM:PS167200 xref: NCI:C84986 xref: ORDO:2309 xref: SNOMEDCT_US_2023_03_01:39427000 xref: UMLS_CUI:C0265334 xref: UMLS_CUI:C1706595 xref: UMLS_CUI:C1721007 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050450 name: Gitelman syndrome def: "A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting)." [url:https\://ghr.nlm.nih.gov/condition/gitelman-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA" EXACT [] xref: GARD:8547 xref: MESH:D053579 xref: MIM:263800 xref: NCI:C84730 xref: SNOMEDCT_US_2023_03_01:3188003 xref: UMLS_CUI:C0268450 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0050451 name: Brugada syndrome def: "A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death." [url:http\://en.wikipedia.org/wiki/Brugada_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Bangungut" EXACT [] synonym: "Brugada type idiopathic ventricular fibrillation" EXACT [] synonym: "Dream disease" EXACT [] synonym: "Pokkuri death syndrome" EXACT [] synonym: "sudden unexplained nocturnal death syndrome" EXACT [] synonym: "SUNDS" EXACT OMO:0003012 [] xref: GARD:1030 xref: ICD10CM:I49.8 xref: MESH:D053840 xref: MIM:PS601144 xref: NCI:C142891 xref: ORDO:130 xref: SNOMEDCT_US_2023_03_01:418818005 xref: UMLS_CUI:C1142166 xref: UMLS_CUI:C1721096 is_a: DOID:0050177 ! monogenic disease is_a: DOID:10273 ! heart conduction disease [Term] id: DOID:0050452 name: mevalonic aciduria def: "A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis." [url:https\://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Mevalonate Kinase Deficiency" EXACT [] xref: GARD:3588 xref: ICD10CM:M04.1 xref: MESH:D054078 xref: MIM:610377 xref: NCI:C84890 xref: ORDO:29 xref: SNOMEDCT_US_2023_03_01:124327008 xref: SNOMEDCT_US_2023_03_01:234538002 xref: UMLS_CUI:C0342731 xref: UMLS_CUI:C0398691 xref: UMLS_CUI:C1959626 is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0050453 name: lissencephaly def: "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation." [url:http\://en.wikipedia.org/wiki/Lissencephaly, url:http\://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:12291 xref: ICD10CM:Q04.3 xref: MESH:D054082 xref: MIM:PS607432 xref: NCI:C103921 xref: ORDO:102009 xref: SNOMEDCT_US_2023_03_01:204036008 xref: SNOMEDCT_US_2023_03_01:23024003 xref: UMLS_CUI:C0266463 xref: UMLS_CUI:C0266483 is_a: DOID:2490 ! congenital nervous system abnormality [Term] id: DOID:0050454 name: periventricular nodular heterotopia def: "A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain." [url:http\://ghr.nlm.nih.gov/condition/periventricular-heterotopia] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "periventricular heterotopia" EXACT [] xref: MESH:D054091 xref: MIM:300049 xref: MIM:608097 xref: MIM:608098 xref: MIM:612881 xref: MIM:615544 xref: ORDO:98892 xref: SNOMEDCT_US_2023_03_01:448227009 xref: SNOMEDCT_US_2023_03_01:816068000 xref: UMLS_CUI:C1848213 xref: UMLS_CUI:C1868720 is_a: DOID:2490 ! congenital nervous system abnormality [Term] id: DOID:0050455 name: obsolete arachnodactyly is_obsolete: true [Term] id: DOID:0050456 name: Buruli ulcer disease def: "A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin." [url:http\://en.wikipedia.org/wiki/Buruli_ulcer, url:http\://www.who.int/mediacentre/factsheets/fs199/en/] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Bairnsdale ulcer" EXACT [] synonym: "Daintree ulcer" EXACT [] synonym: "Mossman ulcer" EXACT [] synonym: "Searl ulcer" EXACT [] synonym: "Searle's ulcer" EXACT [] xref: GARD:9520 xref: ICD10CM:A31.1 xref: MESH:D054312 xref: NCI:C84604 xref: SNOMEDCT_US_2023_03_01:186343005 xref: UMLS_CUI:C0085568 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:0050457 name: Sertoli cell-only syndrome def: "A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development." [url:https\://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "DEL CASTILLO SYNDROME" EXACT [] synonym: "Germinal Cell Aplasia" EXACT [] xref: GARD:8406 xref: MESH:D054331 xref: NCI:C168988 xref: SNOMEDCT_US_2023_03_01:73465006 xref: UMLS_CUI:C1384583 is_a: DOID:12336 ! male infertility [Term] id: DOID:0050458 name: juvenile myelomonocytic leukemia def: "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes." [url:https\://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:9884 xref: ICD10CM:C93.3 xref: ICDO:9946/3 xref: MESH:D054429 xref: MIM:607785 xref: NCI:C9233 xref: SNOMEDCT_US_2023_03_01:445227008 xref: UMLS_CUI:C0349639 is_a: DOID:4972 ! myelodysplastic/myeloproliferative neoplasm [Term] id: DOID:0050459 name: hyperphosphatemia def: "A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene." [url:https\://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis] subset: NCIthesaurus xref: MESH:D054559 xref: NCI:C113750 xref: SNOMEDCT_US_2023_03_01:20165001 xref: UMLS_CUI:C0085681 is_a: DOID:2485 ! phosphorus metabolism disease [Term] id: DOID:0050460 name: Wolf-Hirschhorn syndrome alt_id: DOID:6684 def: "A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3." [url:https\://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "4p deletion syndrome" EXACT [] synonym: "chromosome 4p16.3 deletion syndrome" EXACT [] synonym: "PITT SYNDROME" EXACT [] synonym: "Pitt-Rogers-Danks Syndrome" EXACT [] xref: GARD:7896 xref: ICD10CM:Q93.3 xref: MESH:D054877 xref: MIM:194190 xref: NCI:C35528 xref: ORDO:280 xref: SNOMEDCT_US_2023_03_01:17122004 xref: UMLS_CUI:C0796117 xref: UMLS_CUI:C1956097 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0050461 name: aspartylglucosaminuria def: "A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins." [url:https\://ghr.nlm.nih.gov/condition/aspartylglucosaminuria] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "aspartylglucosaminidase deficiency" EXACT [] synonym: "aspartylglycosaminuria" EXACT [] synonym: "glycosylasparaginase deficiency" EXACT [] xref: GARD:5854 xref: ICD10CM:E77.1 xref: MESH:D054880 xref: MIM:208400 xref: NCI:C61273 xref: SNOMEDCT_US_2023_03_01:54954004 xref: UMLS_CUI:C0268225 is_a: DOID:3211 ! lysosomal storage disease property_value: exactMatch "MESH:D054880" xsd:string [Term] id: DOID:0050462 name: Antley-Bixler syndrome with disordered steroidogenesis def: "An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene." [url:http\://en.wikipedia.org/wiki/Antley-Bixler_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/35070845/] comment: OMIM mapping confirmed by DO. [SN]. synonym: "trapezoidocephaly-synostosis syndrome" EXACT [] xref: MIM:201750 xref: SNOMEDCT_US_2021_09_01:62964007 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081289 ! Antley-Bixler syndrome is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:D054882" xsd:string [Term] id: DOID:0050463 name: campomelic dysplasia def: "An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles." [url:http\://en.wikipedia.org/wiki/Campomelic_dysplasia, url:http\://ghr.nlm.nih.gov/condition/campomelic-dysplasia, url:http\://www.healthline.com/galecontent/campomelic-dysplasia-1] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Acampomelic Campomelic Dysplasia" EXACT [] xref: GARD:10027 xref: MESH:D055036 xref: MIM:114290 xref: NCI:C120205 xref: NCI:C84609 xref: ORDO:140 xref: UMLS_CUI:C1861922 xref: UMLS_CUI:C1861923 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0050464 name: Farber lipogranulomatosis def: "A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition." [url:https\://en.wikipedia.org/wiki/Farber_disease] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "acid ceramidase deficiency" EXACT [] synonym: "Farber disease" EXACT [] synonym: "N-laurylsphingosine deacylase deficiency" EXACT [] xref: GARD:6426 xref: MESH:D055577 xref: MIM:228000 xref: NCI:C84710 xref: SNOMEDCT_US_2023_03_01:79935000 xref: UMLS_CUI:C0268255 is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:0050465 name: Muir-Torre syndrome def: "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes." [url:https\://en.wikipedia.org/wiki/Muir%E2%80%93Torre_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6821 xref: MESH:D055653 xref: MIM:158320 xref: NCI:C84905 xref: SNOMEDCT_US_2023_03_01:403824007 xref: UMLS_CUI:C1321489 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0050466 name: Loeys-Dietz syndrome def: "A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects." [url:https\://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10788 xref: MESH:D055947 xref: NCI:C75006 xref: ORDO:60030 xref: SNOMEDCT_US_2023_03_01:446263001 xref: UMLS_CUI:C1836635 xref: UMLS_CUI:C2697932 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050467 name: erythrokeratodermia variabilis def: "A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis." [url:https\://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Erythrokeratodermia Figurata Variabilis" EXACT [] synonym: "Greither Disease" EXACT [] xref: MESH:D056266 xref: MIM:PS133200 xref: NCI:C84696 xref: ORDO:317 xref: SNOMEDCT_US_2023_03_01:70041004 xref: UMLS_CUI:C0265961 xref: UMLS_CUI:C1851480 is_a: DOID:0050177 ! monogenic disease is_a: DOID:37 ! skin disease property_value: exactMatch "MESH:D056266" xsd:string [Term] id: DOID:0050468 name: yellow nail syndrome def: "A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached." [url:http\://rarediseases.info.nih.gov/gard/184/yellow-nail-syndrome/resources/1, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/834/viewAbstract, url:https\://www.ncbi.nlm.nih.gov/pubmed/28241848] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:184 xref: ICD10CM:L60.5 xref: MESH:D056684 xref: MIM:153300 xref: NCI:C85238 xref: SNOMEDCT_US_2023_03_01:400211001 xref: UMLS_CUI:C0221348 is_a: DOID:225 ! syndrome is_a: DOID:37 ! skin disease is_a: DOID:4123 ! nail disease [Term] id: DOID:0050469 name: Costello syndrome def: "A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17250658, url:https\://www.ncbi.nlm.nih.gov/pubmed/907573] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Faciocutaneoskeletal Syndrome" EXACT [] synonym: "FCS SYNDROME" EXACT [] xref: GARD:1550 xref: MESH:D056685 xref: MIM:218040 xref: NCI:C84652 xref: SNOMEDCT_US_2023_03_01:205803001 xref: UMLS_CUI:C0587248 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy [Term] id: DOID:0050470 name: Donohue syndrome def: "A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor." [url:https\://en.wikipedia.org/wiki/Donohue_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Leprechaunism" EXACT [] xref: MESH:D056731 xref: MIM:246200 xref: NCI:C131000 xref: NCI:C84676 xref: ORDO:508 xref: SNOMEDCT_US_2023_03_01:111307005 xref: SNOMEDCT_US_2023_03_01:33559001 xref: UMLS_CUI:C0265344 xref: UMLS_CUI:C0271695 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050471 name: Carney complex def: "A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity." [url:http\://en.wikipedia.org/wiki/Carney_complex, url:http\://ghr.nlm.nih.gov/condition/carney-complex] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Carney complex variant" EXACT [] synonym: "Carney Complex, Type 1" EXACT [] synonym: "Carney Complex, Type 2" EXACT [] synonym: "Carney Syndrome" EXACT [] synonym: "LAMB Syndrome" EXACT [] synonym: "NAME Syndrome" EXACT [] xref: GARD:1119 xref: MESH:D056733 xref: MIM:160980 xref: MIM:605244 xref: MIM:608837 xref: NCI:C4705 xref: ORDO:1359 xref: SNOMEDCT_US_2023_03_01:733491005 xref: UMLS_CUI:C0406810 xref: UMLS_CUI:C1854540 xref: UMLS_CUI:C2607929 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050472 name: monilethrix def: "A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins." [url:https\://ghr.nlm.nih.gov/condition/monilethrix] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:93 xref: ICD10CM:Q84.1 xref: MESH:D056734 xref: MIM:158000 xref: NCI:C84894 xref: SNOMEDCT_US_2023_03_01:69488000 xref: UMLS_CUI:C0546966 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:421 ! hair disease [Term] id: DOID:0050473 name: Alstrom syndrome def: "A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene." [url:http\://en.wikipedia.org/wiki/Alstrom_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus xref: MESH:D056769 xref: MIM:203800 xref: NCI:C84549 xref: SNOMEDCT_US_2023_03_01:63702009 xref: UMLS_CUI:C0268425 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:D056769" xsd:string [Term] id: DOID:0050474 name: Netherton syndrome def: "A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin." [url:https\://ghr.nlm.nih.gov/condition/netherton-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:7182 xref: MIM:256500 xref: ORDO:634 xref: SNOMEDCT_US_2023_03_01:312514006 xref: UMLS_CUI:C0265962 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:37 ! skin disease [Term] id: DOID:0050475 name: Weill-Marchesani syndrome def: "A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities." [url:http\://en.wikipedia.org/wiki/Weill-Marchesani_syndrome, url:http\://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome] comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "congenital mesodermal dystrophy" EXACT [] synonym: "GEMSS syndrome" EXACT [] synonym: "Marchesani-Weill Syndrome" EXACT [] synonym: "Mesodermal Dysmorphodystrophy, Congenital" EXACT [] synonym: "Spherophakia Brachymorphia Syndrome" EXACT [] xref: GARD:4936 xref: MESH:D056846 xref: MIM:277600 xref: MIM:608328 xref: MIM:613195 xref: MIM:614819 xref: MIM:PS277600 xref: NCI:C85226 xref: ORDO:3449 xref: SNOMEDCT_US_2023_03_01:205801004 xref: UMLS_CUI:C0265313 xref: UMLS_CUI:C1869114 xref: UMLS_CUI:C1869115 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050476 name: Barth syndrome def: "A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin." [url:http\://en.wikipedia.org/wiki/Barth_syndrome, url:http\://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1, url:http\://www.ninds.nih.gov/disorders/barth/barth.htm, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "3-methylglutaconicaciduria type 2" EXACT [] synonym: "3-methylglutaconicaciduria type II" EXACT [] synonym: "MGA Type 2" EXACT [] synonym: "MGA type II" EXACT [] xref: GARD:5890 xref: ICD10CM:E78.71 xref: MESH:D056889 xref: MIM:302060 xref: NCI:C84585 xref: SNOMEDCT_US_2023_03_01:297231002 xref: UMLS_CUI:C0574083 is_a: DOID:0060336 ! 3-methylglutaconic aciduria is_a: DOID:0080012 ! X-linked recessive disease property_value: exactMatch "MESH:D056889" xsd:string [Term] id: DOID:0050477 name: Liddle syndrome def: "A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel." [url:https\://en.wikipedia.org/wiki/Liddle%27s_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Liddle's syndrome" EXACT [] synonym: "Pseudoaldosteronism" EXACT [] xref: GARD:7381 xref: MESH:D056929 xref: MIM:177200 xref: NCI:C84827 xref: SNOMEDCT_US_2023_03_01:707749005 xref: UMLS_CUI:C0221043 is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0050478 name: obsolete primary Escherichia coli infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:0050479 name: obsolete commensal Klebsiella infectious disease subset: gram-negative_bacterial_infectious_disease synonym: "Klebsiella infection" EXACT [] is_obsolete: true [Term] id: DOID:0050480 name: epidemic typhus def: "A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium." [url:http\://en.wikipedia.org/wiki/Epidemic_typhus] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "sylvatic typhus" EXACT [] is_a: DOID:11256 ! typhus [Term] id: DOID:0050481 name: endemic typhus alt_id: DOID:0050028 alt_id: DOID:0050029 alt_id: DOID:0050030 alt_id: DOID:0050057 alt_id: DOID:0050058 def: "A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash." [url:http\://en.wikipedia.org/wiki/Murine_typhus] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "cat flea rickettsiosis" EXACT [] synonym: "fleaborne typhus" EXACT [] synonym: "murine typhus" EXACT [] synonym: "Rat-Flea Typhus" EXACT [] synonym: "Rickettsia felis spotted fever" EXACT [] synonym: "Shop typhus" RELATED [] synonym: "toulon typhus" EXACT [] synonym: "urban typhus" EXACT [] synonym: "Urban Typhus of Malaya" EXACT [] is_a: DOID:11256 ! typhus [Term] id: DOID:0050482 name: obsolete lymphangitis-associated rickettsiosis subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:0050483 name: obsolete Rickettsia aeschlimannii spotted fever is_obsolete: true [Term] id: DOID:0050484 name: aneruptive fever def: "A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia." [url:http\://jcm.asm.org/cgi/reprint/42/2/816, url:http\://www.cdc.gov/otherspottedfever/index.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "Rickettsia helvetica spotted fever" EXACT [] is_a: DOID:11104 ! spotted fever [Term] id: DOID:0050485 name: sennetsu fever def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia." [url:https\://rarediseases.org/rare-diseases/sennetsu-fever/] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Sennetsu ehrlichiosis" EXACT [] xref: GARD:120 xref: MESH:C537582 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:0050486 name: exanthem def: "A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders." [url:https\://en.wikipedia.org/wiki/Exanthem] subset: NCIthesaurus xref: ICD10CM:R21 xref: ICD9CM:782.1 xref: MESH:D005076 xref: NCI:C111884 xref: SNOMEDCT_US_2023_03_01:112625008 xref: UMLS_CUI:C0015230 is_a: DOID:37 ! skin disease [Term] id: DOID:0050487 name: bacterial exanthem def: "An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin." [url:https\://en.wikipedia.org/wiki/Scarlet_fever#Rash] subset: DO_infectious_disease_slim is_a: DOID:0050486 ! exanthem is_a: DOID:104 ! bacterial infectious disease [Term] id: DOID:0050488 name: early congenital syphilis def: "A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis." [url:http\://www.merckmanuals.com/professional/sec19/ch279/ch279d.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease is_a: DOID:9856 ! congenital syphilis [Term] id: DOID:0050489 name: multinodular goiter def: "A goiter characterized by a multinodular enlargement of the thyroid gland." [url:http\://en.wikipedia.org/wiki/Multinodular_goitre] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: MIM:138800 xref: MIM:300273 xref: MIM:606082 xref: MIM:PS138800 xref: ORDO:276399 is_a: DOID:12176 ! goiter [Term] id: DOID:0050490 name: parenchymatous neurosyphilis def: "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease is_a: DOID:9988 ! tertiary neurosyphilis [Term] id: DOID:0050491 name: meningovascular neurosyphilis def: "A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease is_a: DOID:9988 ! tertiary neurosyphilis [Term] id: DOID:0050492 name: obsolete tertiary syphilitic encephalitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease is_obsolete: true [Term] id: DOID:0050493 name: obsolete tertiary syphilitic meningitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease is_obsolete: true [Term] id: DOID:0050494 name: obsolete Papillomaviridae infectious disease def: "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses." [url:http\://en.wikipedia.org/wiki/Papillomaviridae] is_obsolete: true [Term] id: DOID:0050495 name: exanthema subitum def: "A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck." [url:http\://en.wikipedia.org/wiki/Exanthema_subitum] subset: DO_infectious_disease_slim synonym: "Roseola Infantum" EXACT [] synonym: "Sixth Disease" EXACT [] xref: ICD10CM:B08.2 xref: ICD9CM:058.1 xref: MESH:D005077 xref: SNOMEDCT_US_2023_03_01:54385001 xref: UMLS_CUI:C0015231 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050496 name: obsolete Banna virus encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache." [] is_obsolete: true [Term] id: DOID:0050497 name: obsolete Anelloviridae infectious disease def: "A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses." [url:http\://en.wikipedia.org/wiki/Anelloviridae] is_obsolete: true [Term] id: DOID:0050498 name: obsolete dsDNA virus infectious disease def: "A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA." [url:http\://en.wikipedia.org/wiki/Viral_classification] synonym: "double stranded DNA virus infectious disease" EXACT [] synonym: "dsDNA virus infection" EXACT [] is_obsolete: true [Term] id: DOID:0050499 name: obsolete ssDNA virus infectious disease def: "A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA." [url:http\://en.wikipedia.org/wiki/Viral_classification] synonym: "single stranded DNA virus infectious disease" EXACT [] synonym: "ssDNA virus infection" EXACT [] is_obsolete: true [Term] id: DOID:0050500 name: obsolete dsDNA-RT virus infectious disease def: "A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase." [url:http\://en.wikipedia.org/wiki/Viral_classification] synonym: "double stranded DNA reverse transcribing virus infectious disease" EXACT [] synonym: "double stranded DNA-reverse transcribing virus infection" EXACT [] synonym: "dsDNA-RT virus infection" EXACT [] is_obsolete: true [Term] id: DOID:0050501 name: obsolete dsRNA virus infectious disease def: "A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes." [url:http\://en.wikipedia.org/wiki/Viral_classification] synonym: "double stranded RNA virus infectious disease" EXACT [] synonym: "dsRNA virus infection" EXACT [] is_obsolete: true [Term] id: DOID:0050502 name: obsolete (+)ssRNA virus infectious disease def: "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes." [url:http\://en.wikipedia.org/wiki/Viral_classification] synonym: "(+)ssRNA virus infection" EXACT [] synonym: "Positive Stranded ssRNA Virus infectious disease" EXACT [] synonym: "positive-sense single stranded RNA virus infectious disease" EXACT [] synonym: "positive-sense ssRNA virus infection" EXACT [] synonym: "positive-sense ssRNA virus infectious disease" EXACT [] is_obsolete: true [Term] id: DOID:0050503 name: obsolete (-)ssRNA virus infectious disease def: "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes." [url:http\://en.wikipedia.org/wiki/Viral_classification] synonym: "(-)ssRNA virus infection" EXACT [] synonym: "Negative Stranded ssRNA Virus infectious disease" EXACT [] synonym: "negative-sense single stranded RNA virus infectious disease" EXACT [] synonym: "negative-sense ssRNA virus infection" EXACT [] synonym: "negative-sense ssRNA virus infectious disease" EXACT [] is_obsolete: true [Term] id: DOID:0050504 name: obsolete ssRNA-RT virus infectious disease def: "A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase." [url:http\://en.wikipedia.org/wiki/Viral_classification] synonym: "single stranded RNA reverse transcribing virus infectious disease" EXACT [] synonym: "ssRNA-RT virus infection" EXACT [] is_obsolete: true [Term] id: DOID:0050505 name: obsolete human papilloma virus related anal squamous cell carcinoma def: "A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus." [url:http\://www.infectagentscancer.com/content/5/1/17] is_obsolete: true [Term] id: DOID:0050506 name: obsolete human papilloma virus related vaginal squamous cell carcinoma def: "A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina." [url:http\://emedicine.medscape.com/article/219110-overview, url:http\://emedicine.medscape.com/article/269188-overview] is_obsolete: true [Term] id: DOID:0050507 name: obsolete AIDS-related cryptosporidiosis is_obsolete: true [Term] id: DOID:0050508 name: variola major def: "A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions." [url:http\://www.who.int/csr/disease/smallpox/en/] subset: DO_infectious_disease_slim xref: ICD9CM:050.0 xref: SNOMEDCT_US_2023_03_01:266193008 xref: UMLS_CUI:C1812609 is_a: DOID:8736 ! smallpox [Term] id: DOID:0050509 name: obsolete AIDS-related toxoplasmosis is_obsolete: true [Term] id: DOID:0050510 name: obsolete AIDS-related cystoisosporiasis synonym: "AIDS-related isosporiasis" EXACT [] is_obsolete: true [Term] id: DOID:0050511 name: obsolete Human torovirus gastroenteritis def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea." [url:http\://www.jstor.org/stable/30117350] is_obsolete: true [Term] id: DOID:0050512 name: obsolete Saffold virus gastroenteritis def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting." [url:http\://jvi.asm.org/cgi/content/full/83/9/4631, url:http\://www.cdc.gov/EID/content/15/9/1509.htm] is_obsolete: true [Term] id: DOID:0050513 name: spinal polio def: "A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, 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 difficulty breathing, and has symptom paralysis of arms and legs." [url:http\://en.wikipedia.org/wiki/Poliomyelitis] subset: DO_infectious_disease_slim is_a: DOID:0050515 ! paralytic poliomyelitis is_a: DOID:319 ! spinal cord disease [Term] id: DOID:0050514 name: bulbospinal polio def: "A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, 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 difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs." [url:http\://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms] subset: DO_infectious_disease_slim is_a: DOID:0050515 ! paralytic poliomyelitis [Term] id: DOID:0050515 name: paralytic poliomyelitis def: "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." [url:http\://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms, url:https\://www.sciencedirect.com/topics/neuroscience/paralytic-polio] subset: DO_infectious_disease_slim is_a: DOID:331 ! central nervous system disease is_a: DOID:4953 ! poliomyelitis [Term] id: DOID:0050516 name: O'nyong'nyong fever def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis." [url:http\://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false] subset: DO_infectious_disease_slim is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050517 name: Barmah Forest virus disease def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash." [url:https\://www.betterhealth.vic.gov.au/health/conditionsandtreatments/barmah-forest-virus-disease] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050518 name: Ross River fever def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash." [url:http\://en.wikipedia.org/wiki/Ross_River_fever] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease synonym: "Ross River virus disease" EXACT [] is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050519 name: obsolete Lymphocytic choriomeningitis virus meningitis def: "A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm] is_obsolete: true [Term] id: DOID:0050520 name: obsolete Lymphocytic choriomeningitis virus meningoencephalitis def: "A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm] is_obsolete: true [Term] id: DOID:0050521 name: Oropouche fever def: "A viral infectious disease that results in infection, has_material_basis_in Oropouche virus, which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting." [url:http\://en.wikipedia.org/wiki/Oropouche_fever, url:http\://www.cdc.gov/EID/content/13/6/912.htm] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050522 name: Balkan hemorrhagic fever def: "A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus, which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure." [url:https\://en.wikipedia.org/wiki/Dobrava-Belgrade_orthohantavirus, url:https\://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome [Term] id: DOID:0050523 name: adult T-cell leukemia/lymphoma def: "A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions." [url:http\://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma] subset: DO_cancer_slim subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "adult T-cell leukemia" EXACT [] synonym: "Adult T-cell leukemia/lymphoma (HTLV-1 positive)" EXACT [] xref: GARD:13103 xref: ICD10CM:C91.5 xref: ICDO:9827/3 xref: MESH:D015459 xref: NCI:C3184 xref: SNOMEDCT_US_2023_03_01:77430005 xref: UMLS_CUI:C0023493 is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050524 name: maturity-onset diabetes of the young def: "A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects." [url:http\://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Mason-type diabetes" EXACT [] synonym: "MODY" EXACT OMO:0003012 [] xref: GARD:3697 xref: ICD10CM:E11.8 xref: KEGG:04950 xref: MIM:606391 xref: ORDO:552 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:0050525 name: obsolete acroosteolysis comment: OMIM mapping confirmed by DO. [SN]. synonym: "acro-osteolysis" EXACT [] synonym: "Acroosteolysis syndrome" RELATED [] is_obsolete: true [Term] id: DOID:0050526 name: Gamstorp-Wohlfart syndrome def: "A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs." [url:http\://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "autosomal recessive neuromyotonia and axonal neuropathy" EXACT [] synonym: "myokymia, myotonia and muscle wasting" EXACT [] xref: GARD:12353 xref: MIM:137200 is_a: DOID:225 ! syndrome [Term] id: DOID:0050527 name: obsolete familial hypertriglyceridemia is_obsolete: true [Term] id: DOID:0050528 name: nonphotosensitive trichothiodystrophy 4 def: "A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene." [url:https\://ghr.nlm.nih.gov/condition/trichothiodystrophy] comment: OMIM mapping confirmed by DO. [SN]. synonym: "AMISH BRITTLE HAIR BRAIN SYNDROME" EXACT [] synonym: "BIDS syndrome" EXACT [] synonym: "HAIR-BRAIN SYNDROME" EXACT [] synonym: "TTD4" EXACT OMO:0003012 [] xref: MIM:234050 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy [Term] id: DOID:0050529 name: adult spinal muscular atrophy def: "A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons." [url:https\://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "SMA4" EXACT OMO:0003012 [] synonym: "spinal muscular atrophy 4" EXACT [] synonym: "SPINAL MUSCULAR ATROPHY, ADULT FORM" EXACT [] synonym: "SPINAL MUSCULAR ATROPHY, TYPE IV" EXACT [] xref: ICD10CM:G12.1 xref: MESH:C563948 xref: MIM:271150 xref: ORDO:83420 xref: UMLS_CUI:C1838230 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0050530 name: intermediate spinal muscular atrophy def: "A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons." [url:https\://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM" EXACT [] synonym: "MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE" EXACT [] synonym: "SMA II" EXACT OMO:0003012 [] synonym: "SMA2" EXACT OMO:0003012 [] synonym: "spinal muscular atrophy 2" EXACT [] synonym: "spinal muscular atrophy type II" EXACT [] xref: MESH:D014897 xref: MIM:253550 xref: NCI:C156310 xref: SNOMEDCT_US_2023_03_01:128212001 xref: UMLS_CUI:C0393538 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060160 ! childhood spinal muscular atrophy [Term] id: DOID:0050531 name: obsolete lentiginosis profusa comment: OMIM mapping confirmed by DO. [SN]. synonym: "LENTIGINOSIS, DIFFUSE" EXACT [] synonym: "LENTIGINOSIS, GENERALIZED" EXACT [] synonym: "LENTIGINOSIS, INHERITED PATTERNED" EXACT [] is_obsolete: true [Term] id: DOID:0050532 name: obsolete epidermal nevus comment: OMIM mapping confirmed by DO. [SN]. synonym: "NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC" EXACT [] synonym: "PIGMENTED MOLES" EXACT [] is_obsolete: true [Term] id: DOID:0050533 name: obsolete soldiers heart comment: OMIM mapping confirmed by DO. [SN]. is_obsolete: true [Term] id: DOID:0050534 name: congenital stationary night blindness def: "A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves." [url:http\://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3, url:http\://www.ncbi.nlm.nih.gov/books/NBK1245/, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/, url:http\://www.omim.org/entry/610444, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "congenital essential nyctalopia" EXACT [] xref: ICD10CM:H53.63 xref: ICD9CM:368.61 xref: MESH:C537743 xref: MIM:PS310500 xref: ORDO:215 xref: SNOMEDCT_US_2023_03_01:193687000 xref: UMLS_CUI:C1306122 is_a: DOID:0080015 ! physical disorder is_a: DOID:8498 ! hereditary night blindness [Term] id: DOID:0050535 name: exudative vitreoretinopathy def: "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina." [url:http\://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy, url:http\://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "familial exudative vitreoretinopathy" EXACT [] synonym: "FEVR" EXACT OMO:0003012 [] xref: GARD:1613 xref: ICD10CM:H35.00 xref: ICD9CM:362.10 xref: MIM:PS133780 xref: ORDO:891 xref: SNOMEDCT_US_2023_03_01:193355009 xref: UMLS_CUI:C0004608 is_a: DOID:2462 ! retinal vascular disease [Term] id: DOID:0050536 name: obsolete SC phocomelia syndrome def: "A syndrome that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene." [url:https\://www.omim.org/entry/269000] comment: GHR reference SC phocomelia syndrome is a mild variant of Roberts syndrome not a distinct disease - merged into Roberts syndrome [LS] synonym: "Hypomelia Hypotrichosis Facial hemangioma syndrome" EXACT [] synonym: "SC PSEUDOTHALIDOMIDE SYNDROME" EXACT [] is_obsolete: true [Term] id: DOID:0050537 name: posterior polar cataract def: "A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729648/] comment: OMIM mapping confirmed by DO. [SN]. synonym: "CATARACT, POSTERIOR POLAR" EXACT [] is_a: DOID:83 ! cataract [Term] id: DOID:0050538 name: Charcot-Marie-Tooth disease type 1 def: "A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons." [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "hereditary motor and sensory neuropathy type 1" EXACT [] xref: GARD:12433 is_a: DOID:10595 ! Charcot-Marie-Tooth disease [Term] id: DOID:0050539 name: Charcot-Marie-Tooth disease type 2 def: "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell." [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/25098539] comment: See MIM:604484 Okinawa type is CMT type 2. subset: DO_rare_slim synonym: "hereditary motor and sensory neuropathy Guadalajara neuronal type" EXACT [] synonym: "hereditary motor and sensory neuropathy Okinawa type" EXACT [] synonym: "hereditary motor and sensory neuropathy type 2" EXACT [] xref: GARD:12431 xref: ICD9CM:356.0 xref: MIM:118230 xref: MIM:604484 xref: ORDO:64746 xref: SNOMEDCT_US_2023_03_01:193158000 xref: UMLS_CUI:C0392553 is_a: DOID:10595 ! Charcot-Marie-Tooth disease [Term] id: DOID:0050540 name: Charcot-Marie-Tooth disease type 3 def: "A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination." [url:https\://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease] comment: OMIM mapping confirmed by DO. [SN]. synonym: "DEJERINE-SOTTAS NEUROPATHY" EXACT [] synonym: "DEJERINE-SOTTAS SYNDROME" EXACT [] xref: MIM:145900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10595 ! Charcot-Marie-Tooth disease [Term] id: DOID:0050541 name: Charcot-Marie-Tooth disease type 4 alt_id: DOID:0050582 def: "A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance." [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "hereditary motor and sensory neuropathy" EXACT [] xref: GARD:12440 xref: ORDO:64749 is_a: DOID:10595 ! Charcot-Marie-Tooth disease [Term] id: DOID:0050542 name: Charcot-Marie-Tooth disease type X def: "A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene." [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: ORDO:64747 is_a: DOID:10595 ! Charcot-Marie-Tooth disease [Term] id: DOID:0050543 name: Charcot-Marie-Tooth disease intermediate type def: "A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s." [url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114, url:https\://www.ncbi.nlm.nih.gov/pubmed/16775371] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. synonym: "Charcot-Marie-Tooth disease dominant intermediate" EXACT [] synonym: "Charcot-Marie-Tooth disease recessive intermediate" EXACT [] is_a: DOID:10595 ! Charcot-Marie-Tooth disease [Term] id: DOID:0050544 name: hypermethioninemia def: "An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body." [url:http\://en.wikipedia.org/wiki/Hypermethioninemia] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: MESH:C564683 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0050545 name: visceral heterotaxy def: "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen." [url:http\://en.wikipedia.org/wiki/Situs_ambiguus] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "heterotaxia" EXACT [] synonym: "situs ambiguus" EXACT [] xref: GARD:10875 xref: MIM:306955 xref: MIM:605376 xref: MIM:606325 xref: MIM:613751 xref: MIM:614779 xref: MIM:PS306955 xref: ORDO:450 is_a: DOID:0080015 ! physical disorder [Term] id: DOID:0050546 name: congenital adrenal insufficiency def: "An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase." [url:https\://en.wikipedia.org/wiki/Adrenal_insufficiency] comment: OMIM mapping confirmed by DO. [SN]. synonym: "Adrenal insufficiency, congenital, with 46,XY sex reversal" EXACT [] synonym: "ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE" EXACT [] synonym: "P450scc DEFICIENCY" EXACT [] xref: MIM:613743 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:0050547 name: familial medullary thyroid carcinoma def: "A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22." [url:https\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, url:https\://www.omim.org/entry/155240] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim synonym: "THYROID CARCINOMA, FAMILIAL MEDULLARY" EXACT [] xref: MESH:C536911 xref: MIM:155240 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3973 ! medullary thyroid carcinoma [Term] id: DOID:0050548 name: hereditary sensory neuropathy def: "A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages." [url:http\://omim.org/entry/616488?search=616488&highlight=616488] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim synonym: "familial dysautonomia, type II" EXACT [] synonym: "hereditary sensory and autonomic neuropathy" EXACT [] xref: MESH:D009477 xref: MIM:PS162400 is_a: DOID:870 ! neuropathy [Term] id: DOID:0050549 name: obsolete Saldino-Noonan syndrome def: "A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase." [url:https\://en.wikipedia.org/wiki/Noonan_syndrome] is_obsolete: true replaced_by: DOID:0110087 [Term] id: DOID:0050550 name: obsolete Majewski syndrome comment: OMIM mapping confirmed by DO. [SN]. synonym: "type II short rib-polydactyly syndrome" EXACT [] is_obsolete: true [Term] id: DOID:0050551 name: obsolete Verma-Naumoff syndrome comment: OMIM mapping confirmed by DO. [SN]. synonym: "type III short rib-polydactyly syndrome" EXACT [] is_obsolete: true [Term] id: DOID:0050553 name: proteasome-associated autoinflammatory syndrome 1 def: "A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous mutation in the PSMB8 gene on chromosome 6p21 or a heterozygous mutation in the PSMB8 gene and a heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 gene on chromosome 1q21." [url:https\://pubmed.ncbi.nlm.nih.gov/21129723/, url:https\://pubmed.ncbi.nlm.nih.gov/21852578/, url:https\://pubmed.ncbi.nlm.nih.gov/21881205/, url:https\://www.nomidalliance.org/candle.php] subset: DO_rare_slim synonym: "CANDLE" EXACT OMO:0003012 [] synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" EXACT [] synonym: "JMP syndrome" EXACT [] synonym: "JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY" EXACT [] synonym: "Nakajo-Nishimura syndrome" EXACT [] synonym: "NKJO" EXACT OMO:0003012 [] synonym: "PRAAS1" EXACT OMO:0003012 [] xref: GARD:10988 xref: GARD:3916 xref: GARD:3917 xref: MIM:256040 xref: ORDO:324999 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0050554 name: X-linked sideroblastic anemia with ataxia alt_id: DOID:0060064 def: "A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene." [url:https\://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia] comment: OMIM mapping confirmed by DO. [SN]. synonym: "Anemia sideroblastic and spinocerebellar ataxia" EXACT [] synonym: "Anemia, sideroblastic, spinocerebellar ataxia" EXACT [] synonym: "X-linked sideroblastic anaemia and ataxia" EXACT [] synonym: "X-linked sideroblastic anaemia with ataxia" EXACT [] synonym: "X-linked sideroblastic anemia and ataxia" EXACT [] xref: MIM:301310 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0050556 name: obsolete infantile onset spinocerebellar ataxia def: "An autosomal recessive cerebellar ataxia that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment, has_material_basis_in mutation in the TWNK gene that affects mitochondrial function." [url:https\://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia] is_obsolete: true [Term] id: DOID:0050557 name: congenital muscular dystrophy def: "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted." [url:http\://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/, url:https\://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:9138 xref: ICD9CM:359.0 xref: MIM:254100 xref: ORDO:97242 xref: SNOMEDCT_US_2023_03_01:193221009 xref: UMLS_CUI:C2937300 is_a: DOID:0080015 ! physical disorder is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:0050558 name: Ullrich congenital muscular dystrophy def: "A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes." [url:https\://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy] subset: DO_rare_slim synonym: "ULLRICH DISEASE" EXACT [] synonym: "Ullrich scleroatonic muscular dystrophy" EXACT [] xref: GARD:4769 xref: ORDO:75840 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0050559 name: Fukuyama congenital muscular dystrophy def: "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." [url:https\://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:6475 xref: MIM:253800 xref: ORDO:272 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0050560 name: Walker-Warburg syndrome def: "A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1." [url:https\://ghr.nlm.nih.gov/condition/walker-warburg-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "cerebroocular dysplasia-muscular dystrophy syndrome" EXACT [] synonym: "HARD syndrome" EXACT [] xref: GARD:2599 xref: MESH:D058494 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0050561 name: Lennox-Gastaut syndrome def: "A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood." [url:https\://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome] subset: DO_rare_slim synonym: "Lennox syndrome" EXACT [] xref: GARD:9912 xref: MESH:D065768 xref: MIM:606369 xref: ORDO:2382 is_a: DOID:0050704 ! childhood electroclinical syndrome [Term] id: DOID:0050562 name: West syndrome def: "An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability." [url:https\://rarediseases.org/rare-diseases/west-syndrome/, url:https\://www.ncbi.nlm.nih.gov/pubmed/24268986] subset: DO_rare_slim subset: NCIthesaurus synonym: "Infantile spasms syndrome" RELATED [] xref: GARD:7887 xref: MESH:D013036 xref: NCI:C84788 xref: ORDO:3451 is_a: DOID:0050703 ! infancy electroclinical syndrome [Term] id: DOID:0050563 name: nonsyndromic deafness def: "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms." [url:http\://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness, url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness, url:http\://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742] synonym: "nonsyndromic hearing loss" EXACT [] synonym: "nonsyndromic hereditary hearing loss" EXACT [] xref: MESH:C580334 is_a: DOID:2742 ! auditory system disease [Term] id: DOID:0050564 name: autosomal dominant nonsyndromic deafness def: "A nonsyndromic deafness characterized by an autosomal dominant inheritance mode." [url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "autosomal dominant deafness" EXACT [] xref: ICD10CM:H90.3 xref: MIM:PS124900 xref: ORDO:90635 is_a: DOID:0050563 ! nonsyndromic deafness is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0050565 name: autosomal recessive nonsyndromic deafness def: "A nonsyndromic deafness characterized by an autosomal recessive inheritance mode." [url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness] comment: MIM:607197 is an older phenotype record for this disease. subset: DO_rare_slim xref: ICD10CM:H90.3 xref: MIM:607197 xref: MIM:PS220290 xref: ORDO:90636 is_a: DOID:0050563 ! nonsyndromic deafness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0050566 name: X-linked nonsyndromic deafness def: "A nonsyndromic deafness characterized by an X-linked inheritance mode." [url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "X-linked deafness" EXACT [] xref: ICD10CM:H90.3 xref: MIM:PS304500 xref: ORDO:90625 is_a: DOID:0050563 ! nonsyndromic deafness is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:0050567 name: orofacial cleft def: "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development." [url:https\://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate, url:https\://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4-6.html] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. xref: MIM:PS119530 is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0050568 name: spondylocostal dysostosis def: "A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together." [url:http\://en.wikipedia.org/wiki/Spondylocostal_dysostosis, url:http\://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "costovertebral dysplasia" EXACT [] synonym: "Jarcho-Levin syndrome" EXACT [] synonym: "spondylothoracic dysostosis" EXACT [] synonym: "spondylothoracic dysplasia" EXACT [] xref: GARD:12174 xref: MIM:PS277300 xref: ORDO:1797 xref: ORDO:2311 is_a: DOID:0060564 ! spinal disease is_a: DOID:1934 ! dysostosis [Term] id: DOID:0050569 name: Seckel syndrome def: "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability." [url:http\://en.wikipedia.org/wiki/Seckel_syndrome] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "bird-headed dwarfism" EXACT [] synonym: "Harper's syndrome" EXACT [] synonym: "microcephalic primordial dwarfism" EXACT [] synonym: "Virchow-Seckel dwarfism" EXACT [] xref: GARD:8562 xref: ICD10CM:Q87.1 xref: MIM:PS210600 xref: ORDO:808 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050570 name: congenital disorder of glycosylation type I def: "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins." [url:http\://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification, url:https\://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation] comment: OMIM mapping confirmed by DO. [SN]. xref: MIM:PS212065 is_a: DOID:5212 ! congenital disorder of glycosylation [Term] id: DOID:0050571 name: congenital disorder of glycosylation type II def: "A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain." [url:http\://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim xref: MESH:C535747 xref: MIM:PS212066 is_a: DOID:5212 ! congenital disorder of glycosylation [Term] id: DOID:0050572 name: cone-rod dystrophy def: "A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells." [url:http\://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "cone-rod retinal dystrophy" EXACT [] xref: GARD:10790 xref: ICD10CM:H35.5 xref: ORDO:1872 is_a: DOID:0050177 ! monogenic disease is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:0050573 name: 2-hydroxyglutaric aciduria def: "An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage." [url:http\://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria, url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria] subset: DO_rare_slim xref: GARD:10761 xref: MESH:C535306 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0050574 name: L-2-hydroxyglutaric aciduria def: "An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia)." [url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria] subset: DO_rare_slim synonym: "L-2-HYDROXYGLUTARIC ACIDEMIA" EXACT [] xref: GARD:10472 xref: MIM:236792 xref: ORDO:79314 is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria is_a: DOID:2786 ! cerebellar disease [Term] id: DOID:0050575 name: D-2-hydroxyglutaric aciduria def: "An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory." [url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria] subset: DO_FlyBase_slim subset: DO_rare_slim xref: GARD:5661 xref: MIM:PS600721 is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria [Term] id: DOID:0050576 name: Senior-Loken syndrome def: "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease." [url:https\://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Loken Senior syndrome" EXACT [] synonym: "renal-retinal syndrome" EXACT [] xref: GARD:322 xref: ICD10CM:Q61.5 xref: MESH:C537580 xref: MIM:266900 xref: MIM:606995 xref: MIM:606996 xref: MIM:609254 xref: MIM:610189 xref: MIM:613615 xref: MIM:PS266900 xref: ORDO:3156 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050577 name: cranioectodermal dysplasia def: "A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies." [url:https\://en.wikipedia.org/wiki/Sensenbrenner_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/20817137/] comment: OMIM mapping confirmed by DO. [SN]. synonym: "Levin syndrome" EXACT [] synonym: "Sensenbrenner syndrome" EXACT [] xref: MESH:C562966 xref: MIM:PS218330 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050578 name: occult macular dystrophy def: "A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings." [url:http\://www.iovs.org/content/41/2/513.full.pdf] comment: OMIM mapping confirmed by DO. [SN]. xref: MIM:613587 is_a: DOID:4448 ! macular degeneration [Term] id: DOID:0050579 name: glycogen storage disease XV def: "A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1." [url:https\://www.omim.org/entry/613507] subset: DO_rare_slim synonym: "Glycogen storage disease 15" EXACT [] synonym: "glycogen storage disease type XV" EXACT [] synonym: "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency" EXACT [] xref: MIM:613507 xref: ORDO:263297 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:0050580 name: hereditary lymphedema def: "A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system." [url:http\://en.wikipedia.org/wiki/Milroy%27s_disease] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:7220 xref: ICD9CM:757.0 xref: MIM:PS153100 xref: ORDO:79452 xref: SNOMEDCT_US_2023_03_01:205542007 xref: UMLS_CUI:C1313885 is_a: DOID:4977 ! lymphedema [Term] id: DOID:0050581 name: brachydactyly def: "A dysostosis characterized by short fingers and toes." [url:http\://en.wikipedia.org/wiki/Brachydactyly] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:11913 xref: MESH:D059327 xref: ORDO:294937 is_a: DOID:1934 ! dysostosis property_value: exactMatch "MESH:D059327" xsd:string [Term] id: DOID:0050583 name: obsolete Chlamydophila pneumoniae infectious disease is_obsolete: true [Term] id: DOID:0050584 name: gummatous syphilis def: "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31437386] subset: DO_infectious_disease_slim is_a: DOID:8200 ! tertiary syphilis [Term] id: DOID:0050585 name: congenital generalized lipodystrophy def: "A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance." [url:https\://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim xref: GARD:13388 xref: MIM:PS608594 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:0080298 ! complete generalized lipodystrophy [Term] id: DOID:0050587 name: trichotillomania def: "An impulse control disorder that involves the uncontrollable plucking of ones hair." [url:https\://en.wikipedia.org/wiki/Trichotillomania] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:7803 xref: MESH:D014256 xref: MIM:613229 is_a: DOID:10937 ! impulse control disorder [Term] id: DOID:0050588 name: muscular dystrophy-dystroglycanopathy type B1 def: "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." [url:https\://www.omim.org/entry/613155] comment: Xref MGI. subset: DO_rare_slim synonym: "CMD due to dystroglycanopathy" EXACT [] synonym: "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" EXACT [] xref: MIM:613155 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B [Term] id: DOID:0050589 name: inflammatory bowel disease def: "An intestinal disease characterized by inflammation located in all parts of digestive tract." [url:http\://en.wikipedia.org/wiki/Inflammatory_bowel_disease, url:http\://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: NCIthesaurus xref: EFO:0003767 xref: KEGG:05321 xref: MESH:D015212 xref: MIM:PS266600 xref: NCI:C3138 xref: SNOMEDCT_US_2023_03_01:155759008 xref: UMLS_CUI:C0021390 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:0050590 name: severe congenital neutropenia def: "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections." [url:https\://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia, url:https\://www.ncbi.nlm.nih.gov/pubmed/17133096] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:13592 xref: ICD10CM:D70 xref: MIM:PS202700 xref: ORDO:42738 is_a: DOID:0080015 ! physical disorder is_a: DOID:1227 ! neutropenia [Term] id: DOID:0050591 name: tooth agenesis def: "A tooth disease characterized by failure to develop one or more missing teeth." [url:http\://en.wikipedia.org/wiki/Hypodontia] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "familial tooth agenesis" EXACT [] synonym: "hypodontia" EXACT [] synonym: "oligodontia" EXACT [] synonym: "selective tooth agenesis" EXACT [] xref: ICD10CM:K00.0 xref: ICD9CM:520.0 xref: MESH:D000848 xref: MIM:106600 xref: MIM:150400 xref: MIM:313500 xref: MIM:602639 xref: MIM:604625 xref: MIM:610926 xref: MIM:PS106600 xref: NCI:C172328 xref: ORDO:2227 xref: ORDO:99798 xref: SNOMEDCT_US_2023_03_01:234951001 xref: UMLS_CUI:C0399352 is_a: DOID:1091 ! tooth disease [Term] id: DOID:0050592 name: asphyxiating thoracic dystrophy def: "A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy." [url:https\://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Jeune syndrome" EXACT [] synonym: "short-rib thoracic dysplasia with or without polydactyly" EXACT [] synonym: "thoracic pelvic phalangeal dystrophy" EXACT [] xref: ICD10CM:Q77.2 xref: MIM:PS208500 xref: ORDO:474 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:0050593 name: primary congenital glaucoma def: "A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities." [url:https\://ghr.nlm.nih.gov/condition/early-onset-glaucoma] comment: Xref MGI. xref: MIM:613085 xref: MIM:613086 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080015 ! physical disorder is_a: DOID:1686 ! glaucoma [Term] id: DOID:0050594 name: glycogen storage disease IX def: "A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity." [url:https\://pubmed.ncbi.nlm.nih.gov/25266922/, url:https\://www.ncbi.nlm.nih.gov/pubmed/17689125] synonym: "Glycogen storage disease 9" EXACT [] is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:0050596 name: taeniasis alt_id: DOID:10076 def: "A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat." [url:http\://en.wikipedia.org/wiki/Taeniasis] subset: DO_infectious_disease_slim synonym: "Beef tapeworm infection" RELATED [] synonym: "Infection by Taeniarhynchus saginatus" RELATED [] synonym: "Taenia saginata infectious disease" RELATED [] xref: ICD10CM:B68.1 xref: ICD9CM:123.2 xref: SNOMEDCT_US_2023_03_01:69163003 xref: UMLS_CUI:C0152073 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:0050597 name: intestinal schistosomiasis alt_id: DOID:13692 alt_id: DOID:13721 alt_id: DOID:3468 def: "A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia." [url:http\://en.wikipedia.org/wiki/Schistosomiasis] comment: Xref MGI. subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Katayama fever" EXACT [] synonym: "Schistosoma japonicum infection" EXACT [] synonym: "Schistosoma mansoni infectious disease" EXACT [] synonym: "schistosomiasis japonica" EXACT [] xref: ICD10CM:B65.1 xref: ICD10CM:B65.2 xref: ICD9CM:120.1 xref: ICD9CM:120.2 xref: MESH:D012554 xref: MESH:D012555 xref: MIM:181460 xref: NCI:C35001 xref: NCI:C35002 xref: NCI:C35364 xref: ORDO:1247 xref: SNOMEDCT_US_2023_03_01:187114003 xref: SNOMEDCT_US_2023_03_01:52179003 xref: SNOMEDCT_US_2023_03_01:750009 xref: UMLS_CUI:C0036329 xref: UMLS_CUI:C0036330 xref: UMLS_CUI:C0276932 is_a: DOID:1395 ! schistosomiasis is_a: DOID:5295 ! intestinal disease [Term] id: DOID:0050598 name: extrapulmonary tuberculosis def: "A tuberculosis that occurs at body sites other than the lung." [url:https\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] subset: DO_infectious_disease_slim is_a: DOID:399 ! tuberculosis [Term] id: DOID:0050599 name: abdominal tuberculosis def: "An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas." [url:https\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] subset: DO_infectious_disease_slim is_a: DOID:0050598 ! extrapulmonary tuberculosis [Term] id: DOID:0050600 name: ABCD syndrome def: "A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB)." [url:http\://en.wikipedia.org/wiki/ABCD_syndrome, url:http\://omim.org/entry/600501] comment: OMIM mapping confirmed by DO. [SN]. synonym: "ABCDS" EXACT OMO:0003012 [] synonym: "albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness" EXACT [] xref: MESH:C535334 xref: MIM:600501 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050601 name: ADULT syndrome def: "A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28." [url:https\://pubmed.ncbi.nlm.nih.gov/16114047/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "acro-dermato-ungual-lacrimal-tooth syndrome" EXACT [] xref: GARD:384 xref: MIM:103285 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050602 name: triple-A syndrome def: "A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system." [url:https\://ghr.nlm.nih.gov/condition/triple-a-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "AAAS" EXACT OMO:0003012 [] synonym: "Achalasia-Addisonianism-Alacrimia syndrome" EXACT [] synonym: "Allgrove Syndrome" EXACT [] xref: GARD:457 xref: MIM:231550 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050603 name: acheiropody def: "An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene." [url:https\://en.wikipedia.org/wiki/Acheiropodia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Acheiropodia" EXACT [] synonym: "Horn-Kolb Syndrome" EXACT [] xref: GARD:376 xref: MIM:200500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0050604 name: acrocapitofemoral dysplasia def: "An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene." [url:https\://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:10605 xref: MESH:C564334 xref: MIM:607778 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0050605 name: acrodermatitis enteropathica def: "A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency." [url:https\://en.wikipedia.org/wiki/Acrodermatitis_enteropathica] subset: DO_rare_slim xref: GARD:5723 xref: MESH:C538178 xref: MIM:201100 is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0050606 name: acrokeratosis verruciformis def: "A keratosis that has_material_basis_in mutations in the ATP2A2 gene." [url:https\://en.wikipedia.org/wiki/Acrokeratosis_verruciformis] comment: OMIM mapping confirmed by DO. [SN]. synonym: "Acrokeratosis verruciformis of Hopf" EXACT [] synonym: "Hopf disease" EXACT [] xref: MIM:101900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:161 ! keratosis [Term] id: DOID:0050608 name: Askin's tumor def: "An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated." [url:https\://en.wikipedia.org/wiki/Askin%27s_tumor] synonym: "Askin tumor" EXACT [] synonym: "Askin tumour" EXACT [] synonym: "Askin's tumour" EXACT [] is_a: DOID:3369 ! Ewing sarcoma [Term] id: DOID:0050610 name: oral cavity carcinoma in situ def: "An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma." [url:https\://www.dermnetnz.org/topics/carcinoma-in-situ-of-oral-cavity/] is_a: DOID:403 ! mouth disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:0050611 name: pharynx carcinoma in situ def: "An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/pharyngeal-cancer] is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:0050612 name: gallbladder carcinoma in situ def: "An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma." [url:https\://en.wikipedia.org/wiki/Gallbladder_cancer, url:https\://www.cancer.org/cancer/gallbladder-cancer/detection-diagnosis-staging/staging.html] is_a: DOID:0060262 ! gallbladder disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:0050613 name: bile duct carcinoma in situ def: "An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma." [url:https\://en.wikipedia.org/wiki/Cholangiocarcinoma] is_a: DOID:4138 ! bile duct disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:0050614 name: bronchus carcinoma in situ def: "An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10858385] is_a: DOID:1176 ! bronchial disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:0050615 name: respiratory system cancer def: "An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract." [url:http\://en.wikipedia.org/wiki/Respiratory_tract_neoplasm] is_a: DOID:0050686 ! organ system cancer is_a: DOID:1579 ! respiratory system disease [Term] id: DOID:0050616 name: obsolete malignant Leydig cell tumor alt_id: DOID:4755 is_obsolete: true [Term] id: DOID:0050617 name: obsolete malignant Sertoli cell tumor is_obsolete: true [Term] id: DOID:0050618 name: obsolete malignant Sertoli-Leydig cell tumor is_obsolete: true [Term] id: DOID:0050619 name: paranasal sinus cancer alt_id: DOID:1354 alt_id: DOID:2442 alt_id: DOID:2765 alt_id: DOID:2767 alt_id: DOID:4689 def: "A respiratory system cancer that is located_in the paranasal sinuses." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1] subset: NCIthesaurus synonym: "adenoid cystic carcinoma of Accessory sinus" EXACT [] synonym: "adenoid cystic carcinoma of paranasal sinus" RELATED [] synonym: "Epidermoid carcinoma of the paranasal sinus" EXACT [] synonym: "Mucoepidermoid carcinoma of Accessory sinus" EXACT [] synonym: "paranasal sinus adenocarcinoma" EXACT [] synonym: "paranasal sinus adenoid cystic carcinoma" EXACT [] synonym: "paranasal sinus mucoepidermoid carcinoma" EXACT [] synonym: "paranasal sinus squamous cell carcinoma" EXACT [] synonym: "squamous cell carcinoma of paranasal sinus" RELATED [] xref: MESH:D010255 xref: NCI:C6014 xref: NCI:C6017 xref: NCI:C6018 xref: NCI:C6019 xref: NCI:C8193 xref: SNOMEDCT_US_2023_03_01:1255092002 xref: UMLS_CUI:C0280334 xref: UMLS_CUI:C0854995 xref: UMLS_CUI:C1335336 xref: UMLS_CUI:C1335337 xref: UMLS_CUI:C1335340 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:1352 ! paranasal sinus disease [Term] id: DOID:0050620 name: infiltrating renal pelvis transitional cell carcinoma def: "A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis." [url:https\://en.wikipedia.org/wiki/Transitional_cell_carcinoma] is_a: DOID:5974 ! renal pelvis transitional cell carcinoma [Term] id: DOID:0050621 name: respiratory system benign neoplasm def: "An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm." [url:http\://en.wikipedia.org/wiki/Respiratory_system] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:1579 ! respiratory system disease [Term] id: DOID:0050622 name: reproductive organ benign neoplasm def: "An organ system benign neoplasm that is located_in reproductive system organs." [url:http\://en.wikipedia.org/wiki/Reproductive_system] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:15 ! reproductive system disease [Term] id: DOID:0050623 name: bladder benign neoplasm def: "A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1398414/] is_a: DOID:365 ! bladder disease is_a: DOID:731 ! urinary system benign neoplasm [Term] id: DOID:0050624 name: gastrointestinal system benign neoplasm def: "An organ system benign neoplasm located_in gastrointestinal tract organs." [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:0050625 name: biliary tract benign neoplasm alt_id: DOID:4609 def: "A hepatobiliary benign neoplasm located_in the biliary tract." [url:http\://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract] subset: NCIthesaurus synonym: "extrahepatic bile duct neoplasm" EXACT [] synonym: "neoplasm of extrahepatic bile ducts" EXACT [] synonym: "tumor of the extrahepatic bile duct" EXACT [] xref: NCI:C4441 xref: SNOMEDCT_US_2023_03_01:126855001 xref: UMLS_CUI:C0345913 is_a: DOID:3117 ! hepatobiliary benign neoplasm is_a: DOID:9741 ! biliary tract disease [Term] id: DOID:0050626 name: gastrointestinal neuroendocrine tumor def: "A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells." [url:http\://en.wikipedia.org/wiki/Neuroendocrine_tumor, url:http\://www.cancer.gov/dictionary?CdrID=44904] subset: DO_cancer_slim synonym: "gastrointestinal neuroendocrine tumour" EXACT [] synonym: "malignant gastrointestinal neuroendocrine tumor" EXACT [] synonym: "malignant gastrointestinal neuroendocrine tumour" EXACT [] is_a: DOID:3119 ! gastrointestinal system cancer [Term] id: DOID:0050628 name: advanced sleep phase syndrome def: "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning." [url:http\://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome] comment: Xref MGI. subset: DO_rare_slim synonym: "familial advanced sleep-phase syndrome" EXACT [] xref: MIM:PS604348 xref: ORDO:164736 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:535 ! sleep disorder [Term] id: DOID:0050629 name: Aicardi-Goutieres syndrome def: "A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections." [url:http\://omim.org/entry/225750, url:http\://www.ncbi.nlm.nih.gov/books/NBK1475/, url:https\://agsaa.org/about-ags] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "AGS" EXACT OMO:0003012 [] synonym: "Cree encephalitis" EXACT [] xref: GARD:575 xref: ICD10CM:G31.8 xref: MIM:225750 xref: MIM:610181 xref: MIM:610329 xref: MIM:610333 xref: MIM:612952 xref: MIM:615010 xref: MIM:615846 xref: MIM:PS225750 xref: ORDO:51 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050630 name: Aland Island eye disease def: "An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene." [url:https\://www.omim.org/entry/300600] subset: DO_rare_slim synonym: "Forsius-Eriksson syndrome" EXACT [] synonym: "FORSIUS-ERIKSSON TYPE OCULAR ALBINISM" EXACT [] xref: GARD:10574 xref: MESH:C562664 xref: MIM:300600 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:5614 ! eye disease [Term] id: DOID:0050631 name: Allan-Herndon-Dudley syndrome def: "A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13." [url:http\://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome, url:http\://omim.org/entry/300523] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "AHDS" EXACT OMO:0003012 [] synonym: "ALLAN-HERNDON SYNDROME" EXACT [] xref: GARD:5617 xref: MESH:C537047 xref: MIM:300523 xref: ORDO:59 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050632 name: oculocutaneous albinism def: "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes." [url:http\://en.wikipedia.org/wiki/Oculocutaneous_albinism, url:http\://ghr.nlm.nih.gov/condition/oculocutaneous-albinism] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:10958 xref: ICD10CM:E70.3 xref: MESH:D016115 xref: MIM:PS203100 xref: ORDO:55 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050633 name: ocular albinism 1 def: "An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin." [url:https\://ghr.nlm.nih.gov/condition/ocular-albinism] synonym: "Albinism ocular 1" EXACT [] synonym: "ocular albinism" EXACT [] xref: MESH:D016117 xref: MIM:300500 is_a: DOID:5614 ! eye disease [Term] id: DOID:0050634 name: alopecia universalis def: "An alopecia characterized by the complete loss of hair on the scalp and body." [url:https\://rarediseases.info.nih.gov/diseases/614/alopecia-universalis] subset: DO_rare_slim synonym: "ALOPECIA UNIVERSALIS CONGENITA" EXACT [] xref: GARD:614 xref: MESH:C537055 xref: MIM:203655 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:987 ! alopecia [Term] id: DOID:0050635 name: alternating hemiplegia of childhood def: "A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body." [url:http\://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood, url:http\://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "AHC" EXACT OMO:0003012 [] xref: GARD:11 xref: ICD10CM:G98 xref: MESH:C536589 xref: MIM:104290 xref: MIM:614820 xref: MIM:PS104290 xref: ORDO:2131 is_a: DOID:10969 ! hemiplegia [Term] id: DOID:0050636 name: familial visceral amyloidosis def: "An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys." [url:https\://en.wikipedia.org/wiki/Familial_renal_amyloidosis] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "AMYLOIDOSIS, FAMILIAL RENAL" EXACT [] synonym: "German type amyloidosis" EXACT [] synonym: "OSTERTAG TYPE AMYLOIDOSIS" EXACT [] synonym: "systemic nonneuropathic amyloidosis" EXACT [] xref: GARD:8282 xref: MIM:105200 xref: ORDO:85450 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9120 ! amyloidosis [Term] id: DOID:0050637 name: Finnish type amyloidosis def: "An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa." [url:https\://rarediseases.info.nih.gov/diseases/2339/familial-amyloidosis-finnish-type] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "AGel amyloidosis" EXACT [] synonym: "AMYLOIDOSIS, MERETOJA TYPE" EXACT [] synonym: "gelsolin amyloidosis" EXACT [] synonym: "Lattice corneal dystrophy type II" EXACT [] xref: GARD:2339 xref: MIM:105120 xref: ORDO:85448 is_a: DOID:0050639 ! primary cutaneous amyloidosis is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5614 ! eye disease [Term] id: DOID:0050638 name: transthyretin amyloidosis alt_id: DOID:0050761 def: "An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene." [url:http\://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis, url:http\://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1194/, url:http\://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451, url:http\://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25, url:https\://www.ncbi.nlm.nih.gov/books/NBK1194/, url:https\://www.ncbi.nlm.nih.gov/pubmed/19372706] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "Amyloidosis, hereditary, transthyretin-related" EXACT [] synonym: "ATTR amyloidosis" EXACT [] synonym: "ATTRm amyloidosis" EXACT [] synonym: "Corino de Andrade's disease" EXACT [] synonym: "familial amyloid polyneuropathy" EXACT [] synonym: "Familial transthyretin amyloidosis" EXACT [] synonym: "paramyloidosis" EXACT [] synonym: "transthyretin-related hereditary amyloidosis" EXACT [] synonym: "TTR amyloidosis" EXACT [] xref: GARD:656 xref: ICD10CM:E85.82 xref: MIM:105210 xref: ORDO:85447 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:114 ! heart disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9120 ! amyloidosis [Term] id: DOID:0050639 name: primary cutaneous amyloidosis def: "An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19663869] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "familial primary localized cutaneous amyloidosis" EXACT [] synonym: "PCA" EXACT OMO:0003012 [] xref: GARD:132 xref: MIM:PS105250 xref: ORDO:137807 xref: ORDO:353220 is_a: DOID:37 ! skin disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9120 ! amyloidosis [Term] id: DOID:0050640 name: anauxetic dysplasia 1 def: "An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13." [url:https\://pubmed.ncbi.nlm.nih.gov/16252239/, url:https\://www.ncbi.nlm.nih.gov/books/NBK84550/] subset: DO_rare_slim synonym: "spondylometaepiphyseal dysplasia, Menger type" EXACT [] xref: MIM:607095 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080942 ! anauxetic dysplasia [Term] id: DOID:0050641 name: Rh deficiency syndrome def: "A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12." [url:https\://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/3103426] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:12916 xref: MESH:C562717 xref: MIM:268150 is_a: DOID:583 ! hemolytic anemia [Term] id: DOID:0050642 name: hypochromic microcytic anemia def: "A microcytic anemia characterized by paler than normal blood cells." [url:http\://en.wikipedia.org/wiki/Hypochromic_anemia] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. xref: MIM:206100 xref: MIM:615234 is_a: DOID:11252 ! microcytic anemia [Term] id: DOID:0050643 name: obsolete anonychia congenita is_obsolete: true [Term] id: DOID:0050644 name: arterial calcification of infancy def: "A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall." [url:http\://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification, url:http\://www.omim.org/entry/208000] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "generalized arterial calcification of infancy" EXACT [] synonym: "idiopathic infantile arterial calcification" EXACT [] synonym: "infantile arteriosclerosis" EXACT [] xref: GARD:8380 xref: MESH:C537440 xref: MIM:208000 xref: MIM:614473 xref: ORDO:51608 is_a: DOID:0050828 ! artery disease [Term] id: DOID:0050645 name: arterial tortuosity syndrome def: "A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta." [url:http\://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome, url:http\://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:774 xref: MESH:C565942 xref: MIM:208050 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:0050646 name: distal arthrogryposis def: "A muscle tissue disease characterized by congenital joint contractures of hand and feet." [url:http\://en.wikipedia.org/wiki/Arthrogryposis] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Arthrogryposis Multiplex Congenita" EXACT [] xref: GARD:786 xref: MIM:PS108120 xref: ORDO:1147 xref: ORDO:97120 is_a: DOID:66 ! muscle tissue disease [Term] id: DOID:0050647 name: Arts syndrome def: "An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene." [url:http\://ghr.nlm.nih.gov/condition/arts-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK2591/, url:http\://www.omim.org/entry/301835, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301738] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "ARTS" EXACT OMO:0003012 [] synonym: "fatal X-linked ataxia with deafness and loss of vision" EXACT [] synonym: "Lethal ataxia with deafness and optic atrophy" EXACT [] synonym: "MRXS18" EXACT OMO:0003012 [] synonym: "MRXSARTS" EXACT OMO:0003012 [] synonym: "syndromic X-linked mental retardation 18" EXACT [] synonym: "syndromic X-linked mental retardation Arts type" EXACT [] xref: GARD:8756 xref: MESH:C535388 xref: MIM:301835 xref: ORDO:1187 xref: SNOMEDCT_US_2023_03_01:702441001 xref: UMLS_CUI:C0796028 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0050648 name: atelosteogenesis def: "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." [url:https\://link.springer.com/chapter/10.1007/978-1-60327-161-5_17, url:https\://rarediseases.info.nih.gov/diseases/9287/atelosteogenesis-type-1] comment: OMIM mapping confirmed by DO. [SN]. xref: MIM:108720 xref: MIM:108721 xref: MIM:256050 is_a: DOID:0060564 ! spinal disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0050649 name: atransferrinemia def: "A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22." [url:https\://en.wikipedia.org/wiki/Atransferrinemia, url:https\://www.ncbi.nlm.nih.gov/pubmed/29969719, url:https\://www.omim.org/entry/209300] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "familial hypotransferrinemia" EXACT [] xref: GARD:9595 xref: MIM:209300 xref: NCI:C125693 xref: ORDO:1195 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0050650 name: familial atrial fibrillation def: "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes." [url:http\://en.wikipedia.org/wiki/Familial_atrial_fibrillation] comment: Xref MGI. subset: DO_rare_slim synonym: "ATFB" EXACT OMO:0003012 [] xref: GARD:9740 xref: MIM:607554 xref: MIM:608583 xref: MIM:608988 xref: MIM:611493 xref: MIM:611494 xref: MIM:612201 xref: MIM:612240 xref: MIM:613055 xref: MIM:613980 xref: MIM:614022 xref: MIM:614049 xref: MIM:614050 xref: MIM:615377 xref: MIM:615378 xref: MIM:615770 xref: MIM:PS608583 xref: ORDO:334 is_a: DOID:0060224 ! atrial fibrillation [Term] id: DOID:0050651 name: atrioventricular septal defect def: "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs." [url:http\://en.wikipedia.org/wiki/Atrioventricular_septal_defect, url:http\://www.cdc.gov/ncbddd/heartdefects/avsd.html] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "atrioventricular canal defect" EXACT [] synonym: "AVCD" EXACT OMO:0003012 [] synonym: "AVSD" EXACT OMO:0003012 [] synonym: "ECD" EXACT OMO:0003012 [] synonym: "endocardial cushion defect" EXACT [] xref: GARD:802 xref: ICD10CM:Q21.2 xref: ICD9CM:745.6 xref: MESH:D004694 xref: MIM:606215 xref: MIM:614430 xref: MIM:614474 xref: ORDO:98722 xref: SNOMEDCT_US_2023_03_01:204322008 xref: UMLS_CUI:C0014116 is_a: DOID:1681 ! heart septal defect [Term] id: DOID:0050652 name: obsolete soft tissue cancer is_obsolete: true [Term] id: DOID:0050653 name: obsolete dysplastic nevus synonym: "nevus of Clark" EXACT [] is_obsolete: true [Term] id: DOID:0050654 name: Baller-Gerold syndrome def: "A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone." [url:http\://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome, url:http\://ghr.nlm.nih.gov/condition/baller-gerold-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK1204/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:1602 xref: MESH:C536788 xref: MIM:218600 xref: ORDO:1223 xref: SNOMEDCT_US_2023_03_01:77608001 xref: UMLS_CUI:C0265308 is_a: DOID:11971 ! synostosis [Term] id: DOID:0050655 name: Bamforth-Lazarus syndrome def: "A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22." [url:https\://rarediseases.info.nih.gov/diseases/414/bamforth-syndrome] comment: OMIM mapping confirmed by DO. [SN]. synonym: "HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE" EXACT [] xref: MIM:241850 is_a: DOID:1459 ! hypothyroidism [Term] id: DOID:0050656 name: pseudo-TORCH syndrome 1 def: "A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20727516] subset: DO_rare_slim synonym: "band-like calcification with simplified gyration and polymicrogyria" EXACT [] synonym: "Baraitser-Brett-Piesowicz syndrome" EXACT [] synonym: "Baraitser-Reardon syndrome" EXACT [] synonym: "bilateral band-like calcification with polymicrogyria" EXACT [] synonym: "BLC-PMG" EXACT OMO:0003012 [] synonym: "BLCPMG" EXACT OMO:0003012 [] synonym: "microcephaly-intracranial calcification-intellectual disability syndrome" EXACT [] synonym: "PTORCH1" EXACT OMO:0003012 [] xref: GARD:12426 xref: MIM:251290 xref: ORDO:1229 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050657 name: Bannayan-Riley-Ruvalcaba syndrome def: "A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23." [url:https\://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome, url:https\://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1488/, url:https\://www.ncbi.nlm.nih.gov/pubmed/31062505] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Bannayan-Zonana syndrome" EXACT [] synonym: "Cowden syndrome 1" EXACT [] synonym: "Riley-Smith syndrome" EXACT [] synonym: "Ruvalcaba-Myhre-Smith syndrome" EXACT [] xref: GARD:5887 xref: ICD10CM:Q87.89 xref: MESH:D006223 xref: MIM:158350 xref: NCI:C3939 xref: ORDO:109 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:6457 ! Cowden syndrome [Term] id: DOID:0050658 name: Bart-Pumphrey syndrome def: "A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12." [url:https\://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome] comment: OMIM mapping confirmed by DO. [SN]. synonym: "KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS" EXACT [] xref: MIM:149200 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050659 name: biotin-responsive basal ganglia disease def: "A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia." [url:https\://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease, url:https\://www.ncbi.nlm.nih.gov/books/NBK169615/] comment: OMIM mapping confirmed by DO. [SN]. xref: MESH:C537658 xref: MIM:607483 is_a: DOID:679 ! basal ganglia disease [Term] id: DOID:0050660 name: Beare-Stevenson cutis gyrata syndrome def: "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." [url:https\://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:332 xref: MIM:123790 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050661 name: vitelliform macular dystrophy def: "A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss." [url:http\://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Best disease" EXACT [] synonym: "Best macular dystrophy" EXACT [] synonym: "juvenile-onset vitelliform macular dystrophy" EXACT [] xref: GARD:10120 xref: GARD:182 xref: ICD10CM:H35.5 xref: MESH:D057826 xref: MIM:153700 xref: MIM:153840 xref: MIM:608161 xref: MIM:616151 xref: MIM:616152 xref: ORDO:1243 xref: ORDO:99000 is_a: DOID:4448 ! macular degeneration [Term] id: DOID:0050662 name: bestrophinopathy def: "A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24859690, url:https\://www.ncbi.nlm.nih.gov/pubmed/25545482, url:https\://www.omim.org/entry/611809] comment: OMIM mapping confirmed by DO. [SN]. synonym: "autosomal recessive bestrophinopathy" EXACT [] xref: MESH:C567518 xref: MIM:611809 is_a: DOID:4448 ! macular degeneration [Term] id: DOID:0050663 name: Bethlem myopathy def: "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene." [url:https\://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "benign congenital muscular dystrophy" EXACT [] xref: GARD:873 xref: MESH:C535436 xref: MIM:158810 is_a: DOID:0050557 ! congenital muscular dystrophy [Term] id: DOID:0050664 name: Bietti crystalline corneoretinal dystrophy def: "A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35." [url:https\://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Bietti's crystalline dystrophy" EXACT [] xref: GARD:10050 xref: MIM:210370 is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:0050665 name: fetal alcohol syndrome def: "A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction." [url:http\://en.wikipedia.org/wiki/Fetal_alcohol_syndrome, url:http\://www.cdc.gov/ncbddd/fasd/facts.html] xref: ICD10CM:Q86.0 is_a: DOID:0050696 ! fetal alcohol spectrum disorder [Term] id: DOID:0050666 name: partial fetal alcohol syndrome def: "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure." [url:http\://depts.washington.edu/fasdpn/htmls/fasd-fas.htm, url:http\://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder] is_a: DOID:0050696 ! fetal alcohol spectrum disorder [Term] id: DOID:0050667 name: alcohol-related neurodevelopmental disorder def: "A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure." [url:http\://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder] synonym: "ARND" EXACT OMO:0003012 [] synonym: "static encephalopathy" EXACT [] is_a: DOID:0050696 ! fetal alcohol spectrum disorder [Term] id: DOID:0050668 name: alcohol-related birth defects def: "A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure." [url:http\://www.cdc.gov/ncbddd/fasd/facts.html] synonym: "ARBD" EXACT OMO:0003012 [] is_a: DOID:0050696 ! fetal alcohol spectrum disorder [Term] id: DOID:0050669 name: spastic cerebral palsy def: "A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements." [url:http\://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html] is_a: DOID:1969 ! cerebral palsy [Term] id: DOID:0050670 name: ataxic cerebral palsy def: "A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing." [url:http\://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic, url:http\://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html] subset: DO_rare_slim synonym: "hypotonic cerebral palsy" EXACT [] xref: GARD:10451 xref: MIM:605388 is_a: DOID:1969 ! cerebral palsy [Term] id: DOID:0050671 name: female breast cancer def: "A breast cancer that develops from breast tissue in females." [url:https\://en.wikipedia.org/wiki/Breast_cancer, url:https\://www.ncbi.nlm.nih.gov/pubmed/24703317, url:https\://www.ncbi.nlm.nih.gov/pubmed/25002350] is_a: DOID:1612 ! breast cancer created_by: snadendla creation_date: 2011-06-15T02:48:20Z [Term] id: DOID:0050672 name: dyskinetic cerebral palsy def: "A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions." [url:http\://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic] synonym: "Athetoid Dyskinetic Cerebral Palsy" EXACT [] is_a: DOID:1969 ! cerebral palsy [Term] id: DOID:0050673 name: mixed cerebral palsy def: "A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing." [url:http\://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy, url:http\://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html] is_a: DOID:1969 ! cerebral palsy [Term] id: DOID:0050674 name: congenital bile acid synthesis defect def: "A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver." [url:https\://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/, url:https\://www.ncbi.nlm.nih.gov/pubmed/12543708] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" EXACT [] synonym: "CBA" EXACT OMO:0003012 [] synonym: "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency" EXACT [] xref: ICD10CM:K76.8 xref: ORDO:485631 is_a: DOID:0080015 ! physical disorder is_a: DOID:1701 ! steroid inherited metabolic disorder [Term] id: DOID:0050675 name: Birk-Barel syndrome def: "A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24." [url:https\://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Birk-Barel mental retardation dysmorphism syndrome" EXACT [] xref: GARD:10358 xref: MESH:C567357 xref: MIM:612292 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050676 name: Birt-Hogg-Dube syndrome def: "A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11." [url:https\://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim xref: GARD:2322 xref: MESH:D058249 xref: MIM:135150 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:37 ! skin disease [Term] id: DOID:0050677 name: Bjornstad syndrome def: "A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35." [url:https\://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "BJS" EXACT OMO:0003012 [] synonym: "deafness-pili torti-hypogonadism syndrome" EXACT [] synonym: "PTD" EXACT OMO:0003012 [] xref: GARD:22 xref: MESH:C537633 xref: MIM:262000 xref: ORDO:123 xref: SNOMEDCT_US_2023_03_01:67817003 xref: UMLS_CUI:C0266006 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050678 name: Blau syndrome def: "A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene." [url:http\://en.wikipedia.org/wiki/Blau_syndrome, url:http\://www.omim.org/entry/186580?search=186580&highlight=186580] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "ARTHROCUTANEOUVEAL GRANULOMATOSIS" EXACT [] synonym: "BLAUS" EXACT OMO:0003012 [] synonym: "Jabs syndrome" EXACT [] xref: GARD:304 xref: MESH:C538157 xref: MIM:186580 xref: NCI:C116794 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050679 name: blue cone monochromacy def: "An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster." [url:http\://omim.org/entry/303700, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:917 xref: MIM:303700 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:13911 ! achromatopsia [Term] id: DOID:0050680 name: Boomerang dysplasia def: "An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14." [url:https\://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:933 xref: MESH:C536573 xref: MIM:112310 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0050681 name: Borjeson-Forssman-Lehmann syndrome def: "An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene." [url:http\://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1, url:http\://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "BFLS" EXACT OMO:0003012 [] synonym: "BORJ" EXACT OMO:0003012 [] synonym: "Borjeson syndrome" EXACT [] synonym: "intellectual deficiency-epilepsy-endocrine disorders syndrome" EXACT [] synonym: "mental retardation, epilepsy, and endocrine disorder" EXACT [] synonym: "MRXSBFL" EXACT OMO:0003012 [] synonym: "syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type" EXACT [] xref: GARD:936 xref: MESH:C536575 xref: MIM:301900 xref: NCI:C157122 xref: ORDO:127 xref: SNOMEDCT_US_2023_03_01:21634003 xref: UMLS_CUI:C0265339 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0050682 name: Athabaskan brainstem dysgenesis syndrome def: "A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18412118, url:https\://www.omim.org/entry/601536] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "NAVAJO BRAINSTEM SYNDROME" EXACT [] xref: MIM:601536 xref: ORDO:69739 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:936 ! brain disease [Term] id: DOID:0050683 name: Bothnia retinal dystrophy def: "A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11176989, url:https\://www.omim.org/entry/607475] comment: OMIM mapping confirmed by DO. [SN]. synonym: "Vasterbotten dystrophy" EXACT [] xref: MESH:C564392 xref: MIM:607475 is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:0050684 name: Bowen-Conradi syndrome def: "A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19463982, url:https\://www.omim.org/entry/211180] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Bowen Hutterite syndrome" EXACT [] synonym: "Bowen-Conradi Hutterite syndrome" EXACT [] synonym: "BWCNS" EXACT OMO:0003012 [] xref: GARD:5950 xref: MESH:C537081 xref: MIM:211180 xref: ORDO:1270 xref: SNOMEDCT_US_2023_03_01:711153001 xref: UMLS_CUI:C1859405 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050685 name: small cell carcinoma alt_id: DOID:7137 def: "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells." [url:http\://en.wikipedia.org/wiki/Small_cell_carcinoma] subset: NCIthesaurus synonym: "intermediate cell small cell carcinoma" EXACT [] synonym: "Small cell carcinoma - intermediate cell" EXACT [] synonym: "Small cell carcinoma, intermediate cell" EXACT [] xref: ICDO:8041/3 xref: NCI:C4099 xref: SNOMEDCT_US_2023_03_01:5958006 xref: UMLS_CUI:C0334239 is_a: DOID:305 ! carcinoma created_by: snadendla creation_date: 2011-06-13T01:25:14Z [Term] id: DOID:0050686 name: organ system cancer def: "A cancer that is classified based on the organ it starts in." [url:https\://www.cancer.gov/types/by-body-location] subset: DO_MGI_slim xref: MESH:D009371 is_a: DOID:162 ! cancer created_by: snadendla creation_date: 2011-06-13T03:28:33Z [Term] id: DOID:0050687 name: cell type cancer def: "A cancer that is classified by the type of cell from which it is derived." [url:http\://en.wikipedia.org/wiki/Cancer] subset: DO_MGI_slim is_a: DOID:162 ! cancer created_by: snadendla creation_date: 2011-06-13T03:28:50Z [Term] id: DOID:0050688 name: anal canal cancer def: "A large intestine cancer that is located_in the terminal part of the large intestine." [url:http\://en.wikipedia.org/wiki/Anal_canal] is_a: DOID:5672 ! large intestine cancer created_by: snadendla creation_date: 2011-06-14T01:34:36Z [Term] id: DOID:0050689 name: brachydactyly-syndactyly syndrome def: "A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17236141, url:https\://www.omim.org/entry/610713] comment: OMIM mapping confirmed by DO. [SN]. xref: MESH:C565193 xref: MIM:610713 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome created_by: snadendla creation_date: 2011-06-17T03:55:47Z [Term] id: DOID:0050690 name: brachyolmia def: "An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10968486] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "brachyrachia" EXACT [] xref: GARD:10903 xref: MESH:C537098 xref: MIM:113500 xref: MIM:271530 xref: MIM:271630 xref: MIM:613678 xref: ORDO:1293 is_a: DOID:2256 ! osteochondrodysplasia created_by: snadendla creation_date: 2011-06-17T04:00:27Z [Term] id: DOID:0050691 name: branchiooculofacial syndrome def: "A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts." [url:http\://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK55063/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:3212 xref: MIM:113620 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome created_by: snadendla creation_date: 2011-06-17T04:10:18Z [Term] id: DOID:0050692 name: Brody myopathy def: "A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles." [url:https\://ghr.nlm.nih.gov/condition/brody-myopathy, url:https\://rarediseases.info.nih.gov/gard/9158/brody-myopathy/case/23360/case-questions] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:9158 xref: MESH:C536607 xref: MIM:601003 is_a: DOID:913 ! atrophic muscular disease created_by: snadendla creation_date: 2011-06-17T04:30:49Z [Term] id: DOID:0050693 name: Brooke-Spiegler syndrome def: "A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12." [url:https\://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "BRSS" EXACT OMO:0003012 [] synonym: "BSS" EXACT OMO:0003012 [] synonym: "CYLD cutaneous syndrome" EXACT [] synonym: "SBS" EXACT OMO:0003012 [] synonym: "Spiegler-Brooke Syndrome" EXACT [] xref: GARD:10179 xref: MIM:605041 xref: ORDO:79493 xref: SNOMEDCT_US_2023_03_01:703531009 xref: UMLS_CUI:C1857941 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:37 ! skin disease created_by: snadendla creation_date: 2011-06-17T04:34:10Z [Term] id: DOID:0050694 name: Brown-Vialetto-Van Laere syndrome def: "A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21110228] comment: OMIM mapping confirmed by DO. [SN]. xref: MESH:C537111 xref: MIM:PS211530 is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:C537111" xsd:string created_by: snadendla creation_date: 2011-06-17T04:38:07Z [Term] id: DOID:0050695 name: malignant pleural solitary fibrous tumor def: "A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17075563] is_a: DOID:5158 ! pleural cancer created_by: snadendla creation_date: 2011-06-27T09:57:44Z [Term] id: DOID:0050696 name: fetal alcohol spectrum disorder def: "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy." [url:http\://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder, url:http\://www.cdc.gov/ncbddd/fasd/facts.html] is_a: DOID:0060038 ! specific developmental disorder created_by: lschriml creation_date: 2011-12-01T01:01:25Z [Term] id: DOID:0050697 name: chorioamnionitis def: "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection." [url:http\://en.wikipedia.org/wiki/Chorioamnionitis, url:http\://www.merriam-webster.com/medlineplus/Chorioamnionitis] xref: MESH:D002821 is_a: DOID:780 ! placenta disease created_by: lschriml creation_date: 2012-01-03T01:13:08Z [Term] id: DOID:0050698 name: funisitis def: "A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord." [url:http\://en.wikipedia.org/wiki/Funisitis] is_a: DOID:65 ! connective tissue disease created_by: lschriml creation_date: 2012-01-03T01:18:35Z [Term] id: DOID:0050699 name: Dent disease def: "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure." [url:http\://en.wikipedia.org/wiki/Dent%27s_disease, url:http\://ghr.nlm.nih.gov/condition/dent-disease, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652, url:https\://www.dentdisease.org/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Dent's disease" EXACT [] synonym: "X-linked hypercalciuric nephrocalcinosis" EXACT [] xref: GARD:13105 xref: MESH:D057973 xref: MIM:300009 xref: MIM:300555 xref: NCI:C123260 xref: ORDO:1652 xref: SNOMEDCT_US_2023_03_01:444645005 xref: UMLS_CUI:C0878681 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:447 ! renal tubular transport disease created_by: lschriml creation_date: 2015-03-12T14:32:47Z [Term] id: DOID:0050700 name: cardiomyopathy def: "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle." [url:http\://en.wikipedia.org/wiki/Cardiomyopathy, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/cm/] comment: MESH:D009202 added from NeuroDevNet [WAK]. subset: DO_FlyBase_slim subset: DO_RAD_slim subset: NCIthesaurus synonym: "Cardiomyopathies" EXACT [] xref: ICD10CM:I42 xref: ICD9CM:425 xref: ICD9CM:425.9 xref: MESH:D009202 xref: NCI:C34830 xref: NCI:C53654 xref: SNOMEDCT_US_2023_03_01:266301006 xref: SNOMEDCT_US_2023_03_01:89461002 xref: SNOMEDCT_US_2023_03_01:89600009 xref: UMLS_CUI:C0033141 xref: UMLS_CUI:C0036529 xref: UMLS_CUI:C0878544 is_a: DOID:114 ! heart disease created_by: lschriml creation_date: 2012-01-03T02:54:11Z [Term] id: DOID:0050701 name: electroclinical syndrome def: "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep." [url:http\://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/, url:https\://www.ncbi.nlm.nih.gov/pubmed/20196795] synonym: "electro-clinical syndrome" EXACT [] is_a: DOID:1826 ! epilepsy created_by: lschriml creation_date: 2012-04-11T11:42:46Z [Term] id: DOID:0050702 name: neonatal period electroclinical syndrome def: "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20196795, url:https\://www.ncbi.nlm.nih.gov/pubmed/22182677] comment: JA:Epilepsy Genetics Kiel is_a: DOID:0050701 ! electroclinical syndrome created_by: lschriml creation_date: 2012-04-11T11:48:18Z [Term] id: DOID:0050703 name: infancy electroclinical syndrome def: "An electroclinical syndrome with onset in infancy occurring between birth and one year of age." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20196795] comment: JA:Epilepsy Genetics Kiel is_a: DOID:0050701 ! electroclinical syndrome created_by: lschriml creation_date: 2012-04-11T11:48:18Z [Term] id: DOID:0050704 name: childhood electroclinical syndrome def: "An electroclinical syndrome with onset in childhood between one and 12 years of age." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20196795] comment: JA:Epilepsy Genetics Kiel is_a: DOID:0070309 ! absence epilepsy created_by: lschriml creation_date: 2012-04-11T11:48:18Z [Term] id: DOID:0050705 name: adolescence-adult electroclinical syndrome def: "An electroclinical syndrome with onset in adolescence and adulthood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20196795] {comment="JA:Epilepsy_Genetics_Kiel"} is_a: DOID:0070309 ! absence epilepsy created_by: lschriml creation_date: 2012-04-11T11:48:18Z [Term] id: DOID:0050706 name: variable age at onset electroclinical syndrome def: "An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/] is_a: DOID:0050701 ! electroclinical syndrome created_by: lschriml creation_date: 2012-04-11T11:48:18Z [Term] id: DOID:0050707 name: obsolete nonsyndromic epilepsy is_obsolete: true created_by: lschriml creation_date: 2012-04-11T01:42:13Z [Term] id: DOID:0050708 name: early onset absence epilepsy def: "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24099057] comment: JA:Epilepsy Genetics Kiel is_a: DOID:0050704 ! childhood electroclinical syndrome created_by: lschriml creation_date: 2012-04-11T02:29:04Z [Term] id: DOID:0050709 name: early infantile epileptic encephalopathy alt_id: DOID:2481 def: "A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures." [url:http\://en.wikipedia.org/wiki/Ohtahara_syndrome, url:http\://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm] subset: DO_rare_slim synonym: "Early Infantile Epileptic Encephalopathy with Burst-Suppression" EXACT [] xref: GARD:9255 xref: ORDO:1934 is_a: DOID:0050702 ! neonatal period electroclinical syndrome created_by: lschriml creation_date: 2012-05-10T10:02:58Z [Term] id: DOID:0050710 name: 3-methylcrotonyl-CoA carboxylase deficiency def: "An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy." [url:http\://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency, url:http\://omim.org/entry/210200] subset: DO_rare_slim synonym: "3-Methylcrotonylglycinuria" EXACT [] synonym: "3MCC deficiency" EXACT [] synonym: "BMCC deficiency" EXACT [] xref: GARD:10954 xref: MIM:PS210200 xref: ORDO:6 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080000 ! muscular disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: lschriml creation_date: 2012-05-22T10:32:44Z [Term] id: DOID:0050711 name: aceruloplasminemia def: "An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus." [url:http\://en.wikipedia.org/wiki/Aceruloplasminemia, url:http\://omim.org/entry/604290?search=604290&highlight=604290] subset: DO_rare_slim xref: GARD:9499 xref: MIM:604290 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2351 ! iron metabolism disease is_a: DOID:655 ! inherited metabolic disorder created_by: lschriml creation_date: 2012-05-22T11:47:25Z [Term] id: DOID:0050712 name: AGAT deficiency def: "An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis." [url:http\://en.wikipedia.org/wiki/Arginine\:glycine_amidinotransferase#Deficiency] synonym: "arginine glycine amidinotransferase deficiency" EXACT [] synonym: "Cerebral creatine deficiency syndrome 3" EXACT [] xref: MIM:612718 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050798 ! cerebral creatine deficiency syndrome created_by: lschriml creation_date: 2012-05-22T11:53:57Z [Term] id: DOID:0050713 name: COX deficiency, infantile mitochondrial myopathy def: "A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis." [url:https\://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/] comment: Xref MGI. subset: DO_rare_slim synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency" EXACT [] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency" EXACT [] synonym: "fatal infantile COX deficiency" EXACT [] synonym: "fatal infantile cytochrome C oxidase deficiency" EXACT [] synonym: "fatal infantile encephalocardiomyopathy" EXACT [] xref: ORDO:1561 xref: UMLS_CUI:C4273730 is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease property_value: exactMatch "ORDO:1561" xsd:string property_value: exactMatch "UMLS_CUI:C4273730" xsd:string created_by: lschriml creation_date: 2012-05-22T01:03:41Z [Term] id: DOID:0050715 name: methylmalonic aciduria and homocystinuria type cblC def: "A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase." [url:http\://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22] synonym: "Cobalamin C deficiency" EXACT [] synonym: "MAHCC" EXACT OMO:0003012 [] xref: MIM:277400 is_a: DOID:0080578 ! digenic disease is_a: DOID:14749 ! methylmalonic acidemia created_by: lschriml creation_date: 2012-05-23T03:26:25Z [Term] id: DOID:0050716 name: methylmalonic aciduria and homocystinuria type cblD def: "A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities." [url:http\://omim.org/entry/277410?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22, url:https\://www.ncbi.nlm.nih.gov/pubmed/18385497] synonym: "Cobalamin D deficiency" EXACT [] synonym: "MAHCD" EXACT OMO:0003012 [] xref: MIM:277410 is_a: DOID:14749 ! methylmalonic acidemia created_by: lschriml creation_date: 2012-05-23T03:26:25Z [Term] id: DOID:0050717 name: methylmalonic aciduria and homocystinuria type cblF def: "A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21910240] synonym: "Cobalamin F deficiency" EXACT [] synonym: "MAHCF" EXACT OMO:0003012 [] xref: MIM:277380 is_a: DOID:14749 ! methylmalonic acidemia created_by: lschriml creation_date: 2012-05-23T03:26:25Z [Term] id: DOID:0050718 name: vitamin metabolic disorder def: "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." [url:http\://en.wikipedia.org/wiki/Inborn_error_of_metabolism] is_a: DOID:655 ! inherited metabolic disorder created_by: lschriml creation_date: 2012-06-11T02:44:53Z [Term] id: DOID:0050719 name: cerebral folate receptor alpha deficiency def: "A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy." [url:http\://en.wikipedia.org/wiki/B_vitamins, url:https\://www.ncbi.nlm.nih.gov/pubmed/19732866] synonym: "Neurodegeneration due to cerebral folate transport deficiency" EXACT [] xref: MIM:613068 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:0050737 ! autosomal recessive disease created_by: lschriml creation_date: 2012-06-11T02:58:59Z [Term] id: DOID:0050720 name: ornithine translocase deficiency def: "An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood." [url:http\://en.wikipedia.org/wiki/Ornithine_translocase_deficiency, url:http\://rarediseases.info.nih.gov/GARD/Condition/2830/Ornithine_translocase_deficiency_syndrome.aspx] synonym: "HHH syndrome" EXACT [] synonym: "Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome" EXACT [] xref: MIM:238970 is_a: DOID:9252 ! amino acid metabolic disorder created_by: lschriml creation_date: 2012-06-13T03:09:31Z [Term] id: DOID:0050721 name: serine deficiency def: "An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15021249] is_a: DOID:9252 ! amino acid metabolic disorder created_by: lschriml creation_date: 2012-06-13T03:09:31Z [Term] id: DOID:0050722 name: PHGDH deficiency def: "A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis." [url:http\://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase, url:http\://www.ncbi.nlm.nih.gov/pubmed?term=18296366, url:http\://www.omim.org/entry/601815] synonym: "PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY" EXACT [] xref: MESH:C566618 xref: MIM:601815 is_a: DOID:0050721 ! serine deficiency created_by: lschriml creation_date: 2012-06-13T03:09:31Z [Term] id: DOID:0050723 name: PSAT deficiency def: "A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/, url:http\://www.omim.org/entry/610992?search=610992&highlight=610992, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417] synonym: "Phosphoserine aminotransferase deficiency" EXACT [] xref: MIM:610992 is_a: DOID:0050721 ! serine deficiency created_by: lschriml creation_date: 2012-06-13T03:09:31Z [Term] id: DOID:0050724 name: PSPH deficiency def: "A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine." [url:http\://en.wikipedia.org/wiki/PSPH, url:http\://www.omim.org/entry/614023, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350] synonym: "Phosphoserine phosphatase deficiency" EXACT [] synonym: "PSPHD" EXACT OMO:0003012 [] xref: MIM:614023 is_a: DOID:0050721 ! serine deficiency created_by: lschriml creation_date: 2012-06-13T03:09:31Z [Term] id: DOID:0050725 name: tyrosinemia type II def: "A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels." [url:http\://en.wikipedia.org/wiki/Tyrosinemia_type_II, url:http\://www.omim.org/entry/276600?search=276600&highlight=276600] synonym: "Oculocutaneous tyrosinemia" EXACT [] synonym: "Richner-Hanhart syndrome" EXACT [] xref: MIM:276600 is_a: DOID:37 ! skin disease is_a: DOID:409 ! liver disease is_a: DOID:9275 ! tyrosinemia created_by: lschriml creation_date: 2012-06-13T03:09:31Z [Term] id: DOID:0050726 name: tyrosinemia type I def: "A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body." [url:http\://en.wikipedia.org/wiki/Type_I_tyrosinemia] synonym: "hepatorenal tyrosinemia" EXACT [] xref: MIM:276700 is_a: DOID:9275 ! tyrosinemia created_by: lschriml creation_date: 2012-07-06T02:55:45Z [Term] id: DOID:0050727 name: tyrosinemia type III def: "A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine." [url:http\://en.wikipedia.org/wiki/Type_III_tyrosinemia, url:http\://www.omim.org/entry/276710?search=tyrosinemia&highlight=tyrosinemia] xref: MIM:276710 is_a: DOID:9275 ! tyrosinemia created_by: lschriml creation_date: 2012-07-06T02:55:45Z [Term] id: DOID:0050728 name: glycogen metabolism disorder def: "A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen." [url:http\://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism] is_a: DOID:2978 ! carbohydrate metabolic disorder created_by: lschriml creation_date: 2012-07-13T10:42:54Z [Term] id: DOID:0050729 name: Chanarin-Dorfman syndrome def: "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues." [url:http\://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome] subset: DO_rare_slim synonym: "neutral lipid storage disease" EXACT [] xref: GARD:3979 xref: MIM:275630 xref: ORDO:98907 is_a: DOID:9455 ! lipid storage disease created_by: lschriml creation_date: 2012-07-17T12:31:48Z [Term] id: DOID:0050730 name: coenzyme Q10 deficiency disease def: "A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis." [url:http\://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity] subset: DO_rare_slim synonym: "COENZYME Q10 DEFICIENCY, PRIMARY" EXACT [] xref: GARD:10423 xref: MIM:PS607426 is_a: DOID:700 ! mitochondrial metabolism disease created_by: lschriml creation_date: 2012-07-17T12:58:37Z [Term] id: DOID:0050731 name: vitamin B12 deficiency def: "A vitamin metabolic disorder that results from low blood levels of vitamin B12." [url:http\://en.wikipedia.org/wiki/B12_deficiency] synonym: "cobalamin deficiency" EXACT [] synonym: "hypocobalaminemia" EXACT [] xref: MESH:D014806 is_a: DOID:0050718 ! vitamin metabolic disorder created_by: lschriml creation_date: 2012-07-17T01:01:29Z [Term] id: DOID:0050732 name: methylmalonic aciduria and homocystinuria type cblE def: "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15 that causes inborn error of vitamin B12 metabolism." [url:https\://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cb, url:https\://www.omim.org/entry/236270] is_a: DOID:14749 ! methylmalonic acidemia created_by: lschriml creation_date: 2012-07-17T01:42:35Z [Term] id: DOID:0050733 name: methylmalonic aciduria and homocystinuria type cblG def: "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism." [url:https\://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cblf, url:https\://www.omim.org/entry/250940] is_a: DOID:14749 ! methylmalonic acidemia created_by: lschriml creation_date: 2012-07-17T01:42:35Z [Term] id: DOID:0050734 name: congenital intrinsic factor deficiency def: "A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption." [url:http\://omim.org/entry/261000?search=261000&highlight=261000, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=332, url:https\://www.ncbi.nlm.nih.gov/pubmed/14695536] synonym: "hereditary intrinsic factor deficiency" EXACT [] xref: MIM:261000 is_a: DOID:0050731 ! vitamin B12 deficiency is_a: DOID:0080015 ! physical disorder created_by: lschriml creation_date: 2012-07-17T01:52:57Z [Term] id: DOID:0050735 name: X-linked monogenic disease def: "A monogenic disease that has_material_basis_in mutations in genes on the X chromosome." [url:http\://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant, url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns] subset: DO_MGI_slim is_a: DOID:0050177 ! monogenic disease created_by: lschriml creation_date: 2012-07-24T12:47:31Z [Term] id: DOID:0050736 name: autosomal dominant disease def: "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease." [url:http\://ghr.nlm.nih.gov/glossary=autosomaldominant, url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns, url:http\://www.nlm.nih.gov/medlineplus/ency/article/002049.htm] is_a: DOID:0050739 ! autosomal genetic disease created_by: lschriml creation_date: 2012-07-24T12:51:47Z [Term] id: DOID:0050737 name: autosomal recessive disease def: "An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop." [url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns, url:http\://www.nlm.nih.gov/medlineplus/ency/article/002052.htm] is_a: DOID:0050739 ! autosomal genetic disease created_by: lschriml creation_date: 2012-07-24T12:51:47Z [Term] id: DOID:0050738 name: Y-linked monogenic disease def: "A monogenic disease that has_material_basis_in mutations on the Y chromosome." [url:http\://en.wikipedia.org/wiki/Genetic_disorder#Y-linked] subset: DO_MGI_slim is_a: DOID:0050177 ! monogenic disease created_by: lschriml creation_date: 2012-07-24T12:51:47Z [Term] id: DOID:0050739 name: autosomal genetic disease def: "A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes." [url:http\://ghr.nlm.nih.gov/glossary=autosomaldominant, url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns] subset: DO_MGI_slim is_a: DOID:0050177 ! monogenic disease created_by: lschriml creation_date: 2012-07-24T04:45:53Z [Term] id: DOID:0050740 name: Qazi Markouizos syndrome def: "A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation." [url:http\://omim.org/entry/600096, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010] subset: DO_rare_slim synonym: "Dysharmonic skeletal maturation - muscular fibre disproportion" EXACT [] synonym: "Qazi-Markouizos syndrome" EXACT [] xref: GARD:371 xref: MESH:C536259 xref: MIM:600096 is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2012-08-10T01:08:47Z [Term] id: DOID:0050741 name: alcohol dependence def: "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol." [url:https\://en.wikipedia.org/wiki/Alcohol_dependence] subset: DO_FlyBase_slim synonym: "alcoholism" EXACT [] xref: KEGG:05034 xref: MIM:103780 xref: SNOMEDCT_US_2021_09_01:66590003 is_a: DOID:9973 ! substance dependence created_by: lschriml creation_date: 2012-09-05T11:48:42Z [Term] id: DOID:0050742 name: nicotine dependence def: "A substance dependence that is characterized by a physical dependence on nicotine." [url:https\://en.wikipedia.org/wiki/Nicotine_dependence] subset: NCIthesaurus synonym: "tobacco use disorder" EXACT [] xref: EFO:0003768 xref: ICD10CM:F17 xref: MESH:D014029 xref: NCI:C54203 xref: SNOMEDCT_US_2023_03_01:56294008 xref: UMLS_CUI:C0028043 is_a: DOID:9973 ! substance dependence created_by: lschriml creation_date: 2012-09-05T11:48:42Z [Term] id: DOID:0050743 name: mature T-cell and NK-cell lymphoma def: "A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells." [url:http\://www.cancer.gov/dictionary?CdrID=393800, url:http\://www.cancer.gov/dictionary?CdrID=44062, url:https\://www.ncbi.nlm.nih.gov/pubmed/21919697] subset: DO_cancer_slim synonym: "mature T-cell and natural killer cell lymphoma" EXACT [] synonym: "NK-T cell lymphoma" EXACT [] is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma created_by: lschriml creation_date: 2012-09-18T01:56:52Z [Term] id: DOID:0050744 name: anaplastic large cell lymphoma def: "A non-Hodgkin lymphoma involving aberrant T-cells." [url:http\://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9714/3 xref: NCI:C3720 is_a: DOID:0060060 ! non-Hodgkin lymphoma created_by: lschriml creation_date: 2012-09-18T01:57:40Z [Term] id: DOID:0050745 name: diffuse large B-cell lymphoma def: "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern." [url:http\://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma, url:https\://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C148392, url:https\://www.ncbi.nlm.nih.gov/pubmed/28487884] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "DLBCL" EXACT OMO:0003012 [] xref: GARD:3178 xref: ICD11:2A81.Z xref: ICDO:9680/3 xref: MESH:D016403 xref: NCI:C80280 is_a: DOID:0081452 ! large B-cell lymphoma created_by: lschriml creation_date: 2012-09-18T01:58:25Z [Term] id: DOID:0050746 name: mantle cell lymphoma def: "A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles." [url:http\://en.wikipedia.org/wiki/Mantle_cell_lymphoma] subset: DO_cancer_slim subset: DO_rare_slim xref: GARD:6969 xref: ICDO:9673/3 xref: MESH:D020522 is_a: DOID:707 ! B-cell lymphoma created_by: lschriml creation_date: 2012-09-18T02:00:45Z [Term] id: DOID:0050747 name: obsolete lymphoplasmacytic lymphoma def: "A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells." [url:http\://en.wikipedia.org/wiki/Lymphoplasmacytic_lymphoma] comment: Xref MGI. is_obsolete: true created_by: lschriml creation_date: 2012-09-18T02:00:45Z [Term] id: DOID:0050748 name: marginal zone lymphoma def: "A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes." [url:http\://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=562554] subset: DO_cancer_slim synonym: "marginal zone B-cell lymphoma" EXACT [] xref: ICDO:9699/3 xref: MESH:D018442 is_a: DOID:707 ! B-cell lymphoma created_by: lschriml creation_date: 2012-09-18T02:00:45Z [Term] id: DOID:0050749 name: peripheral T-cell lymphoma def: "A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus." [url:http\://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma] subset: DO_cancer_slim subset: DO_rare_slim xref: GARD:7368 is_a: DOID:0050743 ! mature T-cell and NK-cell lymphoma created_by: lschriml creation_date: 2012-09-18T02:01:49Z [Term] id: DOID:0050750 name: splenic marginal zone lymphoma def: "A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp." [url:http\://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma] subset: NCIthesaurus xref: NCI:C4663 is_a: DOID:0050748 ! marginal zone lymphoma is_a: DOID:4960 ! bone marrow cancer is_a: DOID:672 ! spleen cancer created_by: lschriml creation_date: 2012-09-18T02:03:06Z [Term] id: DOID:0050751 name: T-cell large granular lymphocyte leukemia def: "A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood." [url:http\://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Large granular lymphocytic leukaemia" EXACT [] synonym: "Large granular lymphocytic leukemia" EXACT [] synonym: "T-cell large granular lymphocyte leukaemia" EXACT [] xref: ICDO:9831/3 xref: NCI:C4664 is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia created_by: lschriml creation_date: 2012-09-18T02:05:41Z [Term] id: DOID:0050752 name: amyotrophic lateral sclerosis type 8 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/608627] subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "ALS8" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 8" EXACT [] xref: GARD:10499 xref: MIM:608627 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0050753 name: cerebellar ataxia def: "A hereditary ataxia that is characterized by ataxia originating in the cerebellum." [url:http\://en.wikipedia.org/wiki/Cerebellar_ataxia] xref: MESH:D002524 is_a: DOID:0050951 ! hereditary ataxia is_a: DOID:2786 ! cerebellar disease created_by: lschriml creation_date: 2013-01-16T01:07:02Z [Term] id: DOID:0050754 name: ataxia with oculomotor apraxia type 1 def: "An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene." [url:https\://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1] subset: DO_rare_slim xref: GARD:9283 xref: MIM:208920 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2013-01-16T01:07:02Z [Term] id: DOID:0050755 name: spinocerebellar ataxia with axonal neuropathy 2 def: "An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal." [url:https\://pubmed.ncbi.nlm.nih.gov/19696032/, url:https\://pubmed.ncbi.nlm.nih.gov/23786967/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1154/] subset: DO_rare_slim synonym: "AOA2" EXACT OMO:0003012 [] synonym: "ataxia with oculomotor apraxia type 2" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia 1" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia with axonal neuropathy 2" EXACT [] synonym: "SCAN2" EXACT OMO:0003012 [] synonym: "SCAR1" EXACT OMO:0003012 [] synonym: "spinocerebellar ataxia with axonal neuropathy type 2" EXACT [] xref: GARD:12860 xref: MIM:606002 xref: ORDO:64753 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2013-01-16T01:07:02Z [Term] id: DOID:0050756 name: obsolete CLN3 disease is_obsolete: true creation_date: 2013-01-16T01:15:03Z [Term] id: DOID:0050757 name: deafness-dystonia-optic neuronopathy syndrome alt_id: DOID:0050867 def: "A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria." [url:http\://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome, url:http\://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome, url:http\://omim.org/entry/304700, url:http\://www.ncbi.nlm.nih.gov/books/NBK1216/] subset: DO_rare_slim synonym: "Deafness Dystonia Optic Atrophy Syndrome" EXACT [] synonym: "Deafness Dystonia Optic Neuronopathy Syndrome" EXACT [] synonym: "deafness dystonia syndrome" EXACT [] synonym: "Dystonia Deafness Syndrome" EXACT [] synonym: "Jensen syndrome" EXACT [] synonym: "Mohr-Tranebjaerg syndrome" EXACT [] xref: MESH:C535808 xref: MIM:304700 xref: ORDO:3213 is_a: DOID:700 ! mitochondrial metabolism disease created_by: lschriml creation_date: 2013-01-16T01:20:50Z [Term] id: DOID:0050758 name: metabolic acidosis def: "An acquired metabolic disease that characterized by excessive production of acid." [url:http\://en.wikipedia.org/wiki/Metabolic_acidosis, url:https\://medlineplus.gov/ency/article/000335.htm] is_a: DOID:0060158 ! acquired metabolic disease created_by: lschriml creation_date: 2013-01-16T01:23:37Z [Term] id: DOID:0050759 name: myotonic dystrophy type 2 def: "A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one." [url:http\://ghr.nlm.nih.gov/condition/myotonic-dystrophy, url:http\://www.ncbi.nlm.nih.gov/books/NBK1466/] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:9728 xref: ICD10CM:G71.1 xref: ICD9CM:359.2 xref: MESH:D020967 xref: MIM:602668 xref: NCI:C84913 xref: ORDO:606 xref: SNOMEDCT_US_2023_03_01:155096007 xref: UMLS_CUI:C0553604 is_a: DOID:450 ! myotonic disease created_by: lschriml creation_date: 2013-01-16T01:27:31Z [Term] id: DOID:0050760 name: X-linked myopathy with excessive autophagy def: "A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28." [url:https\://rarediseases.org/rare-diseases/x-linked-myopathy-with-excessive-autophagy/] subset: DO_rare_slim synonym: "XMEA" EXACT OMO:0003012 [] xref: GARD:3892 xref: MIM:310440 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:423 ! myopathy created_by: lschriml creation_date: 2013-01-16T01:29:01Z [Term] id: DOID:0050761 name: obsolete paramyloidosis is_obsolete: true created_by: lschriml creation_date: 2013-01-16T01:30:21Z [Term] id: DOID:0050762 name: adenylosuccinase lyase deficiency def: "An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency." [url:https\://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency] subset: DO_rare_slim xref: GARD:550 xref: MIM:103050 is_a: DOID:9252 ! amino acid metabolic disorder created_by: lschriml creation_date: 2013-01-17T12:42:58Z [Term] id: DOID:0050763 name: ARC syndrome def: "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3." [url:http\://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/16896922, url:https\://www.ncbi.nlm.nih.gov/pubmed/22753090, url:https\://www.ncbi.nlm.nih.gov/pubmed/24415890] subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome" EXACT [] synonym: "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS" EXACT [] synonym: "Arthrogryposis-renal dysfunction-cholestasis" EXACT [] xref: MIM:PS208085 xref: ORDO:2697 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2013-01-17T12:46:38Z [Term] id: DOID:0050764 name: Armfield syndrome def: "A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10398235] subset: DO_rare_slim synonym: "Armfield X-linked mental retardation syndrome" EXACT [] synonym: "mental retardation syndrome, X-linked, Armfield type" EXACT [] synonym: "MRXSA" EXACT OMO:0003012 [] synonym: "syndromic X-linked mental retardation Armfield type" EXACT [] synonym: "X-linked intellectual disability, Armfield type" EXACT [] xref: ICD10CM:Q87.8 xref: MIM:300261 xref: ORDO:85276 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: lschriml creation_date: 2013-01-17T12:48:15Z [Term] id: DOID:0050765 name: neuroacanthocytosis def: "A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders." [url:https\://en.wikipedia.org/wiki/Neuroacanthocytosis, url:https\://rarediseases.org/rare-diseases/neuroacanthocytosis/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1387/] subset: DO_rare_slim xref: GARD:10902 xref: MESH:D054546 xref: ORDO:263440 is_a: DOID:1289 ! neurodegenerative disease created_by: lschriml creation_date: 2013-01-17T12:54:19Z [Term] id: DOID:0050766 name: choreaacanthocytosis def: "A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21." [url:https\://en.wikipedia.org/wiki/Chorea_acanthocytosis, url:https\://ghr.nlm.nih.gov/condition/chorea-acanthocytosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/9382101] subset: DO_rare_slim subset: NCIthesaurus synonym: "choreo-acanthocytosis" EXACT [] synonym: "Levine-Critchley syndrome" EXACT [] xref: GARD:3956 xref: MESH:D054546 xref: MIM:200150 xref: NCI:C84926 xref: ORDO:2388 xref: SNOMEDCT_US_2023_03_01:26848004 xref: UMLS_CUI:C0393576 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050765 ! neuroacanthocytosis created_by: lschriml creation_date: 2013-01-17T12:54:19Z [Term] id: DOID:0050767 name: midface dysplasia def: "An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele." [url:https\://en.wikipedia.org/wiki/Frontonasal_dysplasia] is_a: DOID:2256 ! osteochondrodysplasia created_by: lschriml creation_date: 2013-02-21T11:19:14Z [Term] id: DOID:0050768 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 1 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11." [url:http\://omim.org/entry/604273] subset: DO_rare_slim synonym: "MC5DN1" EXACT OMO:0003012 [] xref: MIM:604273 is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency created_by: lschriml creation_date: 2013-02-21T11:26:46Z [Term] id: DOID:0050769 name: N syndrome def: "A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity." [url:https\://rarediseases.info.nih.gov/diseases/3902/n-syndrome] subset: DO_rare_slim synonym: "NSX" EXACT OMO:0003012 [] xref: GARD:3902 xref: MESH:C536108 xref: MIM:310465 xref: ORDO:2608 is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2013-02-21T11:32:26Z [Term] id: DOID:0050770 name: polycystic liver disease alt_id: DOID:1173 def: "A liver disease that is characterized by the presence of multiple cysts located_in the liver." [url:https\://rarediseases.org/rare-diseases/polycystic-liver-disease/] subset: DO_rare_slim synonym: "congenital cystic liver disease" EXACT [] synonym: "congenital hepatic cyst" EXACT [] synonym: "fibrocystic liver disease" EXACT [] xref: GARD:9457 xref: MESH:C536330 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:409 ! liver disease created_by: lschriml creation_date: 2013-02-21T11:36:13Z [Term] id: DOID:0050771 name: pheochromocytoma def: "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure." [url:https\://en.wikipedia.org/wiki/Pheochromocytoma, url:https\://rarediseases.info.nih.gov/diseases/7385/pheochromocytoma, url:https\://www.mayoclinic.org/diseases-conditions/pheochromocytoma/symptoms-causes/syc-20355367, url:https\://www.omim.org/entry/171300] subset: DO_cancer_slim subset: DO_rare_slim synonym: "phaeochromocytoma" EXACT [] xref: GARD:7385 xref: ICDO:8700/3 xref: MESH:D010673 xref: MIM:171300 is_a: DOID:0060089 ! endocrine organ benign neoplasm created_by: lschriml creation_date: 2013-02-21T11:40:58Z [Term] id: DOID:0050772 name: spastic ataxia 1 def: "A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13." [url:https\://rarediseases.info.nih.gov/diseases/4910/spastic-ataxia-charlevoix-saguenay-type] xref: MIM:108600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050952 ! spastic ataxia created_by: lschriml creation_date: 2015-09-17T14:42:06Z [Term] id: DOID:0050773 name: paraganglioma def: "A pheochromocytoma that arises in extraadrenal sympathetic ganglia." [url:https\://en.wikipedia.org/wiki/Paraganglioma, url:https\://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma] comment: Xref MGI. subset: DO_cancer_slim subset: NCIthesaurus synonym: "chemodectoma" EXACT [] synonym: "glomus body tumor" EXACT [] xref: ICDO:8680/3 xref: MESH:D010235 xref: MIM:115310 xref: MIM:168000 xref: MIM:601650 xref: MIM:605373 xref: MIM:614165 xref: MIM:PS168000 xref: NCI:C3308 xref: SNOMEDCT_US_2023_03_01:302833002 xref: UMLS_CUI:C0030421 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050771 ! pheochromocytoma created_by: lschriml creation_date: 2013-02-21T11:51:57Z [Term] id: DOID:0050774 name: rapadilino syndrome def: "A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24." [url:https\://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome] subset: DO_rare_slim xref: GARD:4637 xref: MESH:C535288 xref: MIM:266280 xref: ORDO:3021 xref: SNOMEDCT_US_2023_03_01:702413000 xref: UMLS_CUI:C1849453 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2013-02-21T11:56:15Z [Term] id: DOID:0050775 name: schneckenbecken dysplasia def: "An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31." [url:https\://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia] subset: DO_rare_slim xref: GARD:169 xref: MESH:C536637 xref: MIM:269250 is_a: DOID:2256 ! osteochondrodysplasia created_by: lschriml creation_date: 2013-02-21T12:00:39Z [Term] id: DOID:0050776 name: non-syndromic X-linked intellectual disability def: "A non-syndromic intellectual disability characterized by a X-linked inheritance pattern." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7011032] comment: Xref MGI. subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "non-specific X-linked mental retardation" EXACT [] xref: MIM:300716 xref: MIM:PS309530 xref: ORDO:777 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050889 ! non-syndromic intellectual disability created_by: lschriml creation_date: 2013-02-21T12:06:40Z [Term] id: DOID:0050777 name: Joubert syndrome def: "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." [url:http\://en.wikipedia.org/wiki/Joubert_syndrome, url:http\://omim.org/entry/213300?search=joubert&highlight=joubert] comment: Xref MGI. subset: DO_rare_slim synonym: "JBTS" EXACT OMO:0003012 [] xref: GARD:6802 xref: ICD10CM:Q04.3 xref: MIM:PS213300 xref: ORDO:475 is_a: DOID:0060340 ! ciliopathy is_a: DOID:936 ! brain disease created_by: lschriml creation_date: 2013-04-04T11:25:32Z [Term] id: DOID:0050778 name: Meckel syndrome def: "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia." [url:http\://en.wikipedia.org/wiki/Meckel_syndrome, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract] comment: Xref MGI. subset: DO_rare_slim synonym: "Meckel-Gruber syndrome" EXACT [] xref: GARD:3436 xref: ICD9CM:753.1 xref: MIM:PS249000 xref: ORDO:564 xref: SNOMEDCT_US_2023_03_01:204954005 xref: UMLS_CUI:C0311245 is_a: DOID:0060340 ! ciliopathy created_by: lschriml creation_date: 2013-04-04T11:28:16Z [Term] id: DOID:0050779 name: hydrolethalus syndrome def: "A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33, url:https\://www.ncbi.nlm.nih.gov/pubmed/15843405] comment: Xref MGI. subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "Salonen-Herva-Norio syndrome" EXACT [] xref: GARD:6683 xref: ICD10CM:Q87.8 xref: MESH:C536079 xref: MIM:PS236680 xref: ORDO:2189 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2013-06-24T12:50:06Z [Term] id: DOID:0050780 name: obsolete Opitz-GBBB syndrome def: "A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects." [url:http\://www.genome.jp/dbget-bin/www_bget?ds\:H00583, url:http\://www.ncbi.nlm.nih.gov/books/NBK1327/, url:http\://www.ncbi.nlm.nih.gov/books/NBK1523/, url:https\://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome] is_obsolete: true created_by: lschriml creation_date: 2013-06-24T01:18:03Z [Term] id: DOID:0050781 name: Ogden syndrome def: "A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28." [url:https\://en.wikipedia.org/wiki/Ogden_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/21700266] subset: DO_rare_slim synonym: "N-alpha-acetyltransferase" EXACT [] synonym: "N-terminal acetyltransferase deficiency" EXACT [] synonym: "OGDNS" EXACT OMO:0003012 [] synonym: "X-linked Malformation and Infantile Lethality Syndrome" EXACT [] xref: MIM:300855 xref: ORDO:276432 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2013-07-17T10:18:00Z [Term] id: DOID:0050782 name: Zollinger-Ellison syndrome def: "A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach." [url:http\://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract, url:https\://www.ncbi.nlm.nih.gov/pubmed/28949124, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/zollinger-ellison-syndrome] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7918 xref: ICD10CM:E16.4 xref: MESH:D015043 xref: NCI:C3453 xref: SNOMEDCT_US_2023_03_01:267477002 xref: UMLS_CUI:C0043515 is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2013-10-23T12:51:49Z [Term] id: DOID:0050783 name: secondary progressive multiple sclerosis def: "A multiple sclerosis that is characterized by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks." [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html, url:http\://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms] synonym: "Secondary-progressive MS" EXACT [] synonym: "SPMS" EXACT OMO:0003012 [] xref: MESH:D020528 xref: SNOMEDCT_US_2023_03_01:425500002 xref: UMLS_CUI:C0751965 is_a: DOID:2377 ! multiple sclerosis property_value: narrowMatch "MESH:D020528" xsd:string created_by: lschriml creation_date: 2013-11-07T11:22:49Z [Term] id: DOID:0050784 name: primary progressive multiple sclerosis def: "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous." [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html, url:http\://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx] synonym: "PPMS" EXACT OMO:0003012 [] synonym: "Primary-progressive MS" EXACT [] xref: MESH:D020528 xref: SNOMEDCT_US_2023_03_01:428700003 xref: UMLS_CUI:C0751964 is_a: DOID:2377 ! multiple sclerosis property_value: narrowMatch "MESH:D020528" xsd:string created_by: lschriml creation_date: 2013-11-07T11:26:58Z [Term] id: DOID:0050785 name: progressive relapsing multiple sclerosis def: "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset." [url:https\://pubmed.ncbi.nlm.nih.gov/35400704/] synonym: "PRMS" EXACT OMO:0003012 [] synonym: "Progressive-relapsing MS" EXACT [] xref: MESH:D020528 xref: SNOMEDCT_US_2023_03_01:724778008 xref: UMLS_CUI:C0393666 is_a: DOID:2377 ! multiple sclerosis property_value: narrowMatch "MESH:D020528" xsd:string created_by: lschriml creation_date: 2013-11-07T11:32:37Z [Term] id: DOID:0050786 name: iridogoniodysgenesis syndrome def: "An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene." [url:http\://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome, url:http\://rarediseases.info.nih.gov/gard/3026/disease/resources/1, url:https\://www.ncbi.nlm.nih.gov/pubmed/19175065] comment: Xref MGI. subset: DO_rare_slim synonym: "IGDS" EXACT OMO:0003012 [] synonym: "IRID 1" EXACT OMO:0003012 [] synonym: "IRID 2" EXACT OMO:0003012 [] synonym: "iridogoniodysgenesis type 1" EXACT [] synonym: "iridogoniodysgenesis type 2" EXACT [] xref: MIM:137600 xref: MIM:601631 xref: ORDO:98634 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:240 ! iris disease created_by: lschriml creation_date: 2013-11-12T10:28:51Z [Term] id: DOID:0050787 name: juvenile polyposis syndrome def: "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum." [url:http\://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome, url:http\://www.cancer.net/cancer-types/juvenile-polyposis-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK1469/] subset: DO_cancer_slim subset: DO_FlyBase_slim subset: DO_rare_slim xref: GARD:3065 xref: MESH:C537702 xref: MIM:174900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:77 ! gastrointestinal system disease created_by: lschriml creation_date: 2013-11-12T11:25:28Z [Term] id: DOID:0050788 name: proximal symphalangism def: "A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness." [url:http\://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1] subset: DO_rare_slim synonym: "Cushing's symphalangism" EXACT [] xref: GARD:8182 xref: KEGG:H00484 xref: MIM:PS185800 xref: ORDO:3250 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080001 ! bone disease is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2013-11-12T11:43:22Z [Term] id: DOID:0050789 name: tarsal-carpal coalition syndrome def: "A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion." [url:http\://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/22326510] subset: DO_rare_slim xref: GARD:9225 xref: MIM:186570 xref: ORDO:1412 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1934 ! dysostosis created_by: lschriml creation_date: 2013-11-12T11:50:00Z [Term] id: DOID:0050790 name: fibular hypoplasia and complex brachydactyly def: "An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly." [url:https\://en.wikipedia.org/wiki/Acromesomelic_dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/16222676] subset: DO_rare_slim synonym: "acromesomelic dysplasia-2B" EXACT [] synonym: "Du Pan syndrome" EXACT [] xref: KEGG:H00467 xref: MESH:C537931 xref: MIM:228900 xref: ORDO:2639 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080049 ! acromesomelic dysplasia created_by: lschriml creation_date: 2013-11-12T12:21:56Z [Term] id: DOID:0050791 name: persistent Mullerian duct syndrome def: "A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male." [url:http\://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome, url:http\://omim.org/entry/261550?search=261550&highlight=261550, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856, url:https\://www.ncbi.nlm.nih.gov/pubmed/20352001] subset: DO_rare_slim subset: NCIthesaurus synonym: "persistent Muellerian duct syndrome" EXACT [] xref: GARD:8435 xref: MESH:C536665 xref: MIM:261550 xref: NCI:C120188 xref: SNOMEDCT_US_2023_03_01:702358005 xref: UMLS_CUI:C1849930 is_a: DOID:15 ! reproductive system disease is_a: DOID:3765 ! pseudohermaphroditism created_by: lschriml creation_date: 2013-11-12T12:26:49Z [Term] id: DOID:0050792 name: multiple cutaneous and mucosal venous malformations def: "A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21." [url:http\://omim.org/entry/600195?search=600195&highlight=600195, url:https\://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations/, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301733] subset: DO_rare_slim synonym: "cutaneomucosal venous malformation" EXACT [] synonym: "mucocutaneous venous malformations" EXACT [] synonym: "VMCM" EXACT OMO:0003012 [] xref: MESH:C563977 xref: MIM:600195 xref: ORDO:2451 xref: SNOMEDCT_US_2023_03_01:699301008 xref: UMLS_CUI:C1838437 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:37 ! skin disease is_a: DOID:866 ! vein disease created_by: lschriml creation_date: 2013-11-12T12:38:33Z [Term] id: DOID:0050793 name: short QT syndrome def: "A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart." [url:http\://en.wikipedia.org/wiki/Short_QT_syndrome, url:http\://ghr.nlm.nih.gov/condition/short-qt-syndrome, url:http\://omim.org/entry/609620?search=SHORT%20QT%20SYNDROME&highlight=syndromic%20short%20qt%20syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083] xref: MIM:609620 xref: MIM:609621 xref: MIM:609622 is_a: DOID:10273 ! heart conduction disease created_by: lschriml creation_date: 2013-11-12T12:59:42Z [Term] id: DOID:0050794 name: multiple synostoses syndrome def: "A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/] subset: DO_rare_slim xref: MIM:PS186500 xref: ORDO:3237 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1934 ! dysostosis created_by: lschriml creation_date: 2013-11-12T01:08:42Z [Term] id: DOID:0050795 name: cone dystrophy def: "A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision." [url:http\://en.wikipedia.org/wiki/Cone_dystrophy, url:http\://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract, url:http\://www.ncbi.nlm.nih.gov/books/NBK1418/] subset: DO_rare_slim synonym: "retinal cone dystrophy" EXACT [] xref: GARD:11897 xref: MESH:D000077765 is_a: DOID:5679 ! retinal disease property_value: exactMatch "MESH:D000077765" xsd:string created_by: lschriml creation_date: 2013-11-12T01:19:22Z [Term] id: DOID:0050796 name: achalasia microcephaly syndrome def: "A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections)." [url:http\://omim.org/entry/200450, url:http\://rarediseases.info.nih.gov/gard/456/disease/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN] subset: DO_rare_slim synonym: "Achalasia microcephaly" EXACT [] synonym: "ACHALASIA-MICROCEPHALY SYNDROME" EXACT [] xref: GARD:456 xref: MESH:C536010 xref: MIM:200450 xref: SNOMEDCT_US_2023_03_01:718573009 xref: UMLS_CUI:C1860212 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2013-11-20T03:01:06Z [Term] id: DOID:0050797 name: peroxisomal acyl-CoA oxidase deficiency def: "A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1." [url:http\://www.omim.org/entry/264470, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971, url:https\://www.ncbi.nlm.nih.gov/pubmed/11815777, url:https\://www.ncbi.nlm.nih.gov/pubmed/17458872, url:https\://www.ncbi.nlm.nih.gov/pubmed/18536048] subset: DO_rare_slim subset: NCIthesaurus synonym: "Peroxisomal acyl-coenzyme A oxidase" EXACT [] xref: GARD:4543 xref: MESH:C536662 xref: MIM:264470 xref: NCI:C170437 xref: ORDO:2971 xref: SNOMEDCT_US_2023_03_01:238069004 xref: UMLS_CUI:C1849678 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:906 ! peroxisomal disease property_value: exactMatch "GARD:4543" xsd:string property_value: exactMatch "NCI:C170437" xsd:string property_value: exactMatch "ORDO:2971" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:238069004" xsd:string property_value: exactMatch "UMLS_CUI:C1849678" xsd:string created_by: lschriml creation_date: 2013-11-21T10:47:41Z [Term] id: DOID:0050798 name: cerebral creatine deficiency syndrome def: "An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17603797, url:https\://www.omim.org/entry/300352] xref: MIM:PS300352 is_a: DOID:9252 ! amino acid metabolic disorder created_by: lschriml creation_date: 2013-11-21T12:10:58Z [Term] id: DOID:0050799 name: guanidinoacetate methyltransferase deficiency def: "A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13." [url:https\://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency] subset: DO_rare_slim synonym: "Cerebral creatine deficiency syndrome 2" EXACT [] synonym: "GAMT deficiency" EXACT [] xref: GARD:2578 xref: MESH:C537622 xref: MIM:612736 is_a: DOID:0050798 ! cerebral creatine deficiency syndrome created_by: lschriml creation_date: 2013-11-21T12:10:58Z [Term] id: DOID:0050800 name: cerebral creatine deficiency syndrome 1 def: "A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17603797, url:https\://www.omim.org/entry/300352] synonym: "CEREBRAL CREATINE DEFICIENCY SYNDROME 1" EXACT [] synonym: "creatine transporter deficiency" EXACT [] synonym: "SLC6A8 deficiency" EXACT [] xref: MIM:300352 is_a: DOID:0050798 ! cerebral creatine deficiency syndrome created_by: lschriml creation_date: 2013-11-21T12:10:58Z [Term] id: DOID:0050801 name: androgenic alopecia def: "An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males." [url:https\://ghr.nlm.nih.gov/condition/androgenetic-alopecia] subset: DO_rare_slim synonym: "alopecia androgenetica, male pattern baldness" EXACT [] synonym: "androgenetic alopecia" EXACT [] xref: GARD:9269 xref: MIM:109200 xref: MIM:300710 xref: MIM:612421 is_a: DOID:987 ! alopecia created_by: lschriml creation_date: 2013-11-21T12:48:07Z [Term] id: DOID:0050802 name: Ehlers-Danlos syndrome spondylodysplastic type 2 def: "An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001468.htm] subset: DO_rare_slim synonym: "defective biosynthesis of proteodermatan sulfate" RELATED [] synonym: "Ehlers-Danlos syndrome progeroid type" EXACT [] synonym: "EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2" EXACT [] synonym: "XGPT deficiency" RELATED [] synonym: "xylosylprotein 4-beta-galactosyltransferase deficiency" RELATED [] xref: MIM:615349 xref: ORDO:75496 xref: SNOMEDCT_US_2023_03_01:720861000 xref: UMLS_CUI:C1869122 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome created_by: lschriml creation_date: 2013-12-02T11:55:24Z [Term] id: DOID:0050803 name: glioblastoma classical subtype def: "A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations." [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475, url:https\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:https\://www.ncbi.nlm.nih.gov/pubmed/23029035] is_a: DOID:3068 ! glioblastoma created_by: lschriml creation_date: 2013-12-02T12:40:57Z [Term] id: DOID:0050804 name: glioblastoma proneural subtype def: "A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification." [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:https\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:https\://www.ncbi.nlm.nih.gov/pubmed/23029035] subset: DO_cancer_slim is_a: DOID:3068 ! glioblastoma created_by: lschriml creation_date: 2013-12-02T12:40:57Z [Term] id: DOID:0050805 name: glioblastoma mesenchymal subtype def: "A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene." [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:https\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:https\://www.ncbi.nlm.nih.gov/pubmed/23029035] is_a: DOID:3068 ! glioblastoma created_by: lschriml creation_date: 2013-12-02T12:40:57Z [Term] id: DOID:0050806 name: glioblastoma neural subtype def: "A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons." [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:https\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:https\://www.ncbi.nlm.nih.gov/pubmed/23029035] is_a: DOID:3068 ! glioblastoma created_by: lschriml creation_date: 2013-12-02T12:40:57Z [Term] id: DOID:0050807 name: Kahrizi syndrome def: "A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene." [url:http\://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972] subset: DO_rare_slim synonym: "intellectual disability, Kahrizi type" EXACT [] synonym: "intellectual disability-cataract-coloboma-kyphosis syndrome" EXACT [] synonym: "KHRZ" EXACT OMO:0003012 [] xref: MESH:C567196 xref: MIM:612713 xref: ORDO:168972 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2013-12-02T02:28:58Z [Term] id: DOID:0050809 name: mucopolysaccharidosis IX def: "A mucopolysaccharidosis characterized by a deficiency in hyaluronidase." [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII] xref: MIM:601492 is_a: DOID:12798 ! mucopolysaccharidosis created_by: lschriml creation_date: 2013-12-02T02:56:58Z [Term] id: DOID:0050810 name: biotin deficiency def: "A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth." [url:http\://en.wikipedia.org/wiki/Biotin_deficiency, url:http\://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html, url:https\://www.ncbi.nlm.nih.gov/books/NBK547751/] synonym: "B7 deficiency" EXACT [] xref: MESH:C531633 is_a: DOID:5113 ! nutritional deficiency disease created_by: lschriml creation_date: 2013-12-02T03:46:44Z [Term] id: DOID:0050811 name: congenital adrenal hyperplasia def: "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency." [url:http\://omim.org/entry/201710, url:http\://www.genome.jp/dbget-bin/www_bget?ds\:H00216, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0] comment: Xref MGI. subset: DO_rare_slim synonym: "adrenal hyperplasia 1" EXACT [] synonym: "congenital lipoid adrenal hyperplasia" EXACT [] synonym: "lipoid CAH" EXACT [] xref: GARD:1465 xref: GARD:1467 xref: ICD10CM:E25 xref: ICD9CM:255.2 xref: MIM:201710 xref: MIM:201810 xref: MIM:201910 xref: MIM:202010 xref: MIM:202110 xref: ORDO:418 xref: SNOMEDCT_US_2023_03_01:154706003 xref: UMLS_CUI:C0701163 is_a: DOID:0080015 ! physical disorder is_a: DOID:1701 ! steroid inherited metabolic disorder created_by: lschriml creation_date: 2013-12-04T12:52:02Z [Term] id: DOID:0050812 name: spondyloepimetaphyseal dysplasia, Pakistani type def: "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." [url:http\://omim.org/entry/612847, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282] synonym: "spondyloepimetaphyseal dysplasia Pakistani type" EXACT [] xref: MESH:C567551 xref: MIM:612847 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia created_by: lschriml creation_date: 2013-12-04T01:24:55Z [Term] id: DOID:0050813 name: spondyloepiphyseal dysplasia with congenital joint dislocations def: "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." [url:http\://www.uniprot.org/diseases/DI-01753] synonym: "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS" EXACT [] synonym: "CHST3-Related Skeletal Dysplasia" EXACT [] synonym: "humero-spinal dysostosis" EXACT [] synonym: "Humero-spinal dysostosis with congenital heart disease" EXACT [] synonym: "humerospinal dysostosis" EXACT [] synonym: "Kozlowski Celermajer Tink syndrome" EXACT [] synonym: "Omani Type" EXACT [] synonym: "Spondyloepiphyseal Dysplasia" EXACT [] xref: MIM:143095 is_a: DOID:0080015 ! physical disorder is_a: DOID:0112280 ! spondyloepiphyseal dysplasia created_by: lschriml creation_date: 2013-12-04T01:30:01Z [Term] id: DOID:0050814 name: temtamy preaxial brachydactyly syndrome def: "A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene." [url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417, url:http\://www.sciencedirect.com/science/article/pii/S1769721213002449, url:https\://www.ncbi.nlm.nih.gov/pubmed/21129728] subset: DO_rare_slim synonym: "PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE" EXACT [] xref: GARD:9679 xref: MESH:C536958 xref: MIM:605282 xref: ORDO:363417 xref: SNOMEDCT_US_2023_03_01:777998000 xref: UMLS_CUI:C1854466 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2013-12-05T12:12:10Z [Term] id: DOID:0050815 name: obsolete eye adnexa disease def: "An eye and adnexa disease that is located_in the adnexa of the eye." [url:http\://en.wikipedia.org/wiki/Accessory_visual_structures] is_obsolete: true created_by: lschriml creation_date: 2013-12-05T12:55:42Z [Term] id: DOID:0050816 name: urofacial syndrome def: "A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding." [url:http\://en.wikipedia.org/wiki/Urofacial_syndrome, url:http\://omim.org/entry/236730, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704] subset: DO_rare_slim synonym: "hydronephrosis with peculiar facial expression" EXACT [] synonym: "Ochoa syndrome" EXACT [] xref: GARD:2781 xref: MESH:C536480 xref: MIM:236730 xref: MIM:615112 xref: MIM:PS236730 xref: ORDO:2704 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2013-12-05T01:10:52Z [Term] id: DOID:0050817 name: Stargardt disease def: "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness." [url:http\://en.wikipedia.org/wiki/Stargardt_disease] subset: DO_rare_slim synonym: "STARGARDT DISEASE 1" EXACT [] xref: GARD:181 xref: MESH:D000080362 xref: MIM:248200 xref: MIM:600110 xref: MIM:603786 is_a: DOID:10871 ! age related macular degeneration created_by: lschriml creation_date: 2013-12-11T01:49:54Z [Term] id: DOID:0050818 name: transcobalamin II deficiency def: "A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII." [url:http\://omim.org/entry/275350, url:https\://www.orpha.net/data/patho/GB/uk-TCII.pdf] synonym: "TCN2 deficiency" EXACT [] xref: MIM:275350 is_a: DOID:0050731 ! vitamin B12 deficiency created_by: lschriml creation_date: 2013-12-11T02:48:06Z [Term] id: DOID:0050819 name: obsolete Matthew-Wood syndrome def: "A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17236193] is_obsolete: true created_by: lschriml creation_date: 2013-12-11T03:11:49Z [Term] id: DOID:0050820 name: atrioventricular block def: "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart." [url:http\://en.wikipedia.org/wiki/Atrioventricular_block] subset: NCIthesaurus synonym: "AV block" EXACT [] xref: ICD10CM:I44.3 xref: ICD9CM:426.10 xref: MESH:D054537 xref: NCI:C26703 xref: SNOMEDCT_US_2023_03_01:58547007 xref: UMLS_CUI:C0004245 is_a: DOID:10273 ! heart conduction disease property_value: exactMatch "MESH:D054537" xsd:string created_by: lschriml creation_date: 2014-02-12T01:35:05Z [Term] id: DOID:0050821 name: first-degree atrioventricular block def: "An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node." [url:https\://en.wikipedia.org/wiki/First-degree_atrioventricular_block] is_a: DOID:0050820 ! atrioventricular block created_by: lschriml creation_date: 2014-02-12T01:39:42Z [Term] id: DOID:0050822 name: second-degree atrioventricular block def: "An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node." [url:https\://en.wikipedia.org/wiki/Second-degree_atrioventricular_block] synonym: "second-degree heart block" EXACT [] is_a: DOID:0050820 ! atrioventricular block created_by: lschriml creation_date: 2014-02-12T01:39:42Z [Term] id: DOID:0050823 name: third-degree atrioventricular block def: "An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles." [url:https\://en.wikipedia.org/wiki/Third-degree_atrioventricular_block] synonym: "complete AV block" EXACT [] is_a: DOID:0050820 ! atrioventricular block created_by: lschriml creation_date: 2014-02-12T01:39:42Z [Term] id: DOID:0050824 name: sinoatrial node disease def: "A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm." [url:http\://en.wikipedia.org/wiki/Sinoatrial_node] synonym: "SA node" EXACT [] synonym: "sinuatrial node" EXACT [] is_a: DOID:0080000 ! muscular disease is_a: DOID:10273 ! heart conduction disease created_by: lschriml creation_date: 2014-02-12T01:47:54Z [Term] id: DOID:0050825 name: endocardium disease def: "A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart." [url:http\://en.wikipedia.org/wiki/Endocardium] is_a: DOID:114 ! heart disease created_by: lschriml creation_date: 2014-02-12T01:53:42Z [Term] id: DOID:0050826 name: tricuspid valve disease alt_id: DOID:13834 def: "A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494422/] synonym: "disease of tricuspid valve" EXACT [] synonym: "RH. tricuspid valve disease" EXACT [] synonym: "Rheumatic disease of tricuspid valve" EXACT [] synonym: "rheumatic tricuspid valve disease" EXACT [] synonym: "Tricuspid disease" EXACT [] xref: ICD10CM:I07 xref: ICD9CM:397.0 xref: SNOMEDCT_US_2023_03_01:49699002 xref: UMLS_CUI:C0264776 is_a: DOID:4079 ! heart valve disease created_by: lschriml creation_date: 2014-02-12T02:55:24Z [Term] id: DOID:0050827 name: rheumatic heart disease alt_id: DOID:9814 def: "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords." [url:http\://en.wikipedia.org/wiki/Rheumatic_heart_disease] synonym: "rheumatic carditis" EXACT [] xref: MESH:D012214 is_a: DOID:4079 ! heart valve disease created_by: lschriml creation_date: 2014-02-12T03:03:38Z [Term] id: DOID:0050828 name: artery disease def: "A vascular disease that is located_in an artery." [url:http\://en.wikipedia.org/wiki/Artery#Pathology] is_a: DOID:178 ! vascular disease created_by: lschriml creation_date: 2014-02-12T03:08:35Z [Term] id: DOID:0050829 name: pericardium disease def: "A cardiovascular system disease that is located_in the fibrous sac surrounding the heart." [url:http\://en.wikipedia.org/wiki/Pericardium] is_a: DOID:0060118 ! thoracic disease is_a: DOID:1287 ! cardiovascular system disease created_by: lschriml creation_date: 2014-02-18T12:20:15Z [Term] id: DOID:0050830 name: peripheral artery disease def: "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000170.htm, url:https\://www.nhlbi.nih.gov/health/health-topics/topics/pad/] xref: MESH:D058729 is_a: DOID:0050828 ! artery disease created_by: lschriml creation_date: 2014-02-18T12:41:09Z [Term] id: DOID:0050831 name: familial encephalopathy with neuroserpin inclusion bodies def: "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern." [url:http\://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies, url:http\://www.jbc.org/content/277/19/17367, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport] subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "FENIB" EXACT OMO:0003012 [] xref: GARD:10037 xref: MESH:C536841 xref: MIM:604218 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1289 ! neurodegenerative disease created_by: lschriml creation_date: 2014-02-24T10:14:57Z [Term] id: DOID:0050832 name: pyrimidine metabolic disorder def: "An inherited metabolic disorder involving dysfunction of pyrimidine metabolism." [url:http\://en.wikipedia.org/wiki/Pyrimidine_metabolism] is_a: DOID:655 ! inherited metabolic disorder created_by: lschriml creation_date: 2014-02-24T10:29:22Z [Term] id: DOID:0050833 name: orotic aciduria def: "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine." [url:http\://en.wikipedia.org/wiki/Orotic_aciduria, url:http\://www.omim.org/entry/258900] xref: MIM:258900 is_a: DOID:0050832 ! pyrimidine metabolic disorder created_by: lschriml creation_date: 2014-02-24T10:29:22Z [Term] id: DOID:0050834 name: CHARGE syndrome def: "A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina." [url:http\://en.wikipedia.org/wiki/CHARGE_syndrome, url:http\://ghr.nlm.nih.gov/condition/charge-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract] subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "CHARGE association" EXACT [] xref: GARD:29 xref: MESH:D058747 xref: MIM:214800 xref: NCI:C75100 xref: ORDO:138 xref: SNOMEDCT_US_2023_03_01:47535005 xref: UMLS_CUI:C0265354 xref: UMLS_CUI:C2936502 is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:D058747" xsd:string created_by: lschriml creation_date: 2014-03-18T11:58:38Z [Term] id: DOID:0050835 name: generalized dystonia alt_id: DOID:11910 alt_id: DOID:11911 alt_id: DOID:11912 alt_id: DOID:14164 alt_id: DOID:5159 alt_id: DOID:531 def: "A dystonia that affects most or all of the body." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] comment: MESH:C538001 added from NeuroDevNet [WAK]. subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "Dystonia 12" RELATED [MESH:C538001] synonym: "familial dystonia" EXACT [] synonym: "fragments of torsion dystonia" EXACT [] xref: ICD10CM:G24.1 xref: ICD10CM:G24.2 xref: ICD9CM:333.6 xref: ICD9CM:333.8 xref: MESH:D004422 xref: MESH:D020821 xref: NCI:C34564 xref: NCI:C35437 xref: NCI:C35438 xref: NCI:C35527 xref: SNOMEDCT_US_2023_03_01:192852006 xref: SNOMEDCT_US_2023_03_01:192859002 xref: SNOMEDCT_US_2023_03_01:22451001 xref: SNOMEDCT_US_2023_03_01:230321007 xref: SNOMEDCT_US_2023_03_01:267584007 xref: UMLS_CUI:C0013423 xref: UMLS_CUI:C0154674 xref: UMLS_CUI:C0154675 xref: UMLS_CUI:C0393598 xref: UMLS_CUI:C0393601 xref: UMLS_CUI:C0752207 is_a: DOID:543 ! dystonia created_by: lschriml creation_date: 2014-03-18T01:13:36Z [Term] id: DOID:0050836 name: focal dystonia def: "A dystonia that is localized to a specific part of the body." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] subset: DO_rare_slim xref: GARD:6458 is_a: DOID:543 ! dystonia created_by: lschriml creation_date: 2014-03-18T01:13:36Z [Term] id: DOID:0050837 name: multifocal dystonia def: "A dystonia that involves two or more unrelated body parts." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] is_a: DOID:543 ! dystonia created_by: lschriml creation_date: 2014-03-18T01:13:36Z [Term] id: DOID:0050838 name: segmental dystonia def: "A dystonia that affects two or more adjacent parts of the body." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] is_a: DOID:543 ! dystonia created_by: lschriml creation_date: 2014-03-18T01:13:36Z [Term] id: DOID:0050839 name: anismus def: "A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation." [url:https\://en.wikipedia.org/wiki/Anismus] is_a: DOID:0050836 ! focal dystonia created_by: lschriml creation_date: 2014-03-18T01:30:33Z [Term] id: DOID:0050840 name: cervical dystonia def: "A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards." [url:http\://en.wikipedia.org/wiki/Spasmodic_torticollis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1155/] subset: DO_rare_slim synonym: "spasmodic torticollis" EXACT [] xref: GARD:10668 is_a: DOID:0050836 ! focal dystonia created_by: lschriml creation_date: 2014-03-18T01:30:33Z [Term] id: DOID:0050841 name: focal hand dystonia alt_id: DOID:13467 def: "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions." [url:http\://en.wikipedia.org/wiki/Dystonia] synonym: "organic writer's cramp" EXACT [] xref: ICD9CM:333.84 xref: SNOMEDCT_US_2023_03_01:52008007 xref: UMLS_CUI:C0154676 is_a: DOID:0050836 ! focal dystonia created_by: lschriml creation_date: 2014-03-18T01:30:33Z [Term] id: DOID:0050842 name: oculogyric crisis def: "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes." [url:http\://en.wikipedia.org/wiki/Oculogyric_crisis] is_a: DOID:0050836 ! focal dystonia created_by: lschriml creation_date: 2014-03-18T01:30:33Z [Term] id: DOID:0050843 name: oromandibular dystonia def: "A focal dystonia that is characterized by distortions of the mouth and tongue." [url:http\://en.wikipedia.org/wiki/Oromandibular_dystonia] is_a: DOID:0050836 ! focal dystonia created_by: lschriml creation_date: 2014-03-18T01:30:33Z [Term] id: DOID:0050844 name: spasmodic dystonia def: "A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech." [url:http\://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx] synonym: "laryngeal dystonia" EXACT [] is_a: DOID:0050836 ! focal dystonia created_by: lschriml creation_date: 2014-03-18T01:30:33Z [Term] id: DOID:0050845 name: cranio-facial dystonia def: "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] is_a: DOID:0050836 ! focal dystonia created_by: lschriml creation_date: 2014-03-18T01:33:33Z [Term] id: DOID:0050846 name: hemidystonia def: "A multifocal dystonia that involves the arm and leg on the same side of the body." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] is_a: DOID:0050837 ! multifocal dystonia created_by: lschriml creation_date: 2014-03-18T01:39:30Z [Term] id: DOID:0050847 name: sleep apnea def: "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep." [url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/] subset: NCIthesaurus xref: ICD10CM:G47.3 xref: ICD9CM:780.57 xref: MESH:D012891 xref: NCI:C26884 xref: SNOMEDCT_US_2023_03_01:206750008 xref: UMLS_CUI:C0037315 is_a: DOID:535 ! sleep disorder created_by: lschriml creation_date: 2014-03-20T03:57:22Z [Term] id: DOID:0050848 name: obstructive sleep apnea def: "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep." [url:http\://en.wikipedia.org/wiki/Obstructive_sleep_apnea, url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000811.htm, url:https\://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1] comment: Xref MGI. subset: NCIthesaurus synonym: "obstructive sleep apnea syndrome" EXACT [] xref: ICD10CM:G47.33 xref: ICD9CM:327.23 xref: MESH:D020181 xref: MIM:107650 xref: NCI:C116337 xref: SNOMEDCT_US_2023_03_01:194441007 xref: UMLS_CUI:C0520679 is_a: DOID:0050847 ! sleep apnea created_by: lschriml creation_date: 2014-03-20T03:57:22Z [Term] id: DOID:0050849 name: periampullary adenoma def: "An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244941/] is_a: DOID:10022 ! ampulla of Vater benign neoplasm is_a: DOID:657 ! adenoma created_by: lschriml creation_date: 2014-04-15T03:26:13Z [Term] id: DOID:0050850 name: diabetic encephalopathy def: "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes." [url:http\://link.springer.com/chapter/10.1007%2F978-1-59745-311-0_11#page-1, url:https\://www.ncbi.nlm.nih.gov/pubmed/20798963] is_a: DOID:936 ! brain disease created_by: lschriml creation_date: 2014-04-15T03:33:49Z [Term] id: DOID:0050851 name: glomerulosclerosis def: "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney." [url:http\://en.wikipedia.org/wiki/Glomerulosclerosis] subset: DO_RAD_slim is_a: DOID:2921 ! glomerulonephritis created_by: lschriml creation_date: 2014-04-15T03:40:31Z [Term] id: DOID:0050852 name: limb ischemia def: "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply." [url:https\://en.wikipedia.org/wiki/Ischemia] is_a: DOID:326 ! ischemia created_by: lschriml creation_date: 2014-04-15T03:46:27Z [Term] id: DOID:0050853 name: chronic venous insufficiency def: "A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins." [url:https\://en.wikipedia.org/wiki/Chronic_venous_insufficiency] is_a: DOID:10128 ! venous insufficiency created_by: lschriml creation_date: 2014-04-15T03:50:26Z [Term] id: DOID:0050854 name: Muckle-Wells syndrome def: "A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11687797, url:https\://www.ncbi.nlm.nih.gov/pubmed/11992256] subset: DO_rare_slim subset: NCIthesaurus synonym: "MWS" EXACT OMO:0003012 [] synonym: "neutrophilic urticaria" EXACT [] xref: GARD:8472 xref: ICD10CM:M04.2 xref: MEDDRA:10064569 xref: MESH:D056587 xref: MIM:191900 xref: NCI:C119054 xref: ORDO:575 xref: SNOMEDCT_US_2023_03_01:15123008 xref: UMLS_CUI:C0268390 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2014-04-15T03:53:41Z [Term] id: DOID:0050855 name: renal fibrosis def: "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776335/] is_a: DOID:557 ! kidney disease created_by: lschriml creation_date: 2014-04-15T03:56:58Z [Term] id: DOID:0050856 name: oppositional defiant disorder def: "A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents." [url:https\://en.wikipedia.org/wiki/Oppositional_defiant_disorder] is_a: DOID:0060038 ! specific developmental disorder created_by: lschriml creation_date: 2014-04-15T04:03:08Z [Term] id: DOID:0050857 name: Perrault syndrome def: "A syndrome that is characterized by sensorineural hearing loss and ovarian failure." [url:http\://ghr.nlm.nih.gov/gene/LARS2, url:https\://www.ncbi.nlm.nih.gov/pubmed/23541340] subset: DO_rare_slim xref: GARD:2542 xref: MIM:233400 xref: MIM:614129 xref: MIM:614926 xref: MIM:615300 xref: MIM:PS233400 xref: ORDO:2855 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2014-04-24T01:56:35Z [Term] id: DOID:0050858 name: Marshall-Smith syndrome def: "A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation." [url:http\://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome, url:http\://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1] subset: DO_rare_slim xref: GARD:6985 xref: MESH:C536026 xref: MIM:602535 xref: ORDO:561 is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2014-04-24T02:06:30Z [Term] id: DOID:0050859 name: hemorrhagic cystitis def: "A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract." [url:https\://en.wikipedia.org/wiki/Hemorrhagic_cystitis] is_a: DOID:1679 ! cystitis created_by: lschriml creation_date: 2014-04-29T01:31:08Z [Term] id: DOID:0050860 name: colorectal adenoma def: "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum." [url:https\://en.wikipedia.org/wiki/Colorectal_adenoma] is_a: DOID:4610 ! intestinal benign neoplasm is_a: DOID:657 ! adenoma created_by: lschriml creation_date: 2014-05-05T03:14:49Z [Term] id: DOID:0050861 name: colorectal adenocarcinoma def: "A colorectal carcinoma that derives_from epithelial cells of glandular origin." [url:http\://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma, url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C5105 xref: SNOMEDCT_US_2023_03_01:408645001 xref: UMLS_CUI:C1319315 is_a: DOID:0080199 ! colorectal carcinoma is_a: DOID:299 ! adenocarcinoma created_by: lschriml creation_date: 2014-05-05T03:16:55Z [Term] id: DOID:0050862 name: pyometritis def: "A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16284801] is_a: DOID:345 ! uterine disease created_by: lschriml creation_date: 2014-05-05T03:25:57Z [Term] id: DOID:0050863 name: arteritic anterior ischemic optic neuropathy def: "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis." [url:https\://en.wikipedia.org/wiki/Arteritic_anterior_ischemic_optic_neuropathy] is_a: DOID:12010 ! anterior ischemic optic neuropathy created_by: lschriml creation_date: 2014-05-09T02:38:13Z [Term] id: DOID:0050864 name: non-arteritic anterior ischemic optic neuropathy def: "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721361/] synonym: "non-arteritic anterior ischaemic optic neuropathy" EXACT [] synonym: "nonarteritic anterior ischaemic optic neuropathy" EXACT [] synonym: "nonarteritic anterior ischemic optic neuropathy" EXACT [] is_a: DOID:12010 ! anterior ischemic optic neuropathy created_by: lschriml creation_date: 2014-05-09T02:38:13Z [Term] id: DOID:0050865 name: tongue squamous cell carcinoma def: "A head and neck squamous cell carcinoma that is located_in the tongue." [url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma] subset: NCIthesaurus xref: NCI:C4648 xref: SNOMEDCT_US_2023_03_01:276952000 xref: UMLS_CUI:C0349566 is_a: DOID:5520 ! head and neck squamous cell carcinoma is_a: DOID:8649 ! tongue cancer created_by: lschriml creation_date: 2014-05-12T02:38:44Z [Term] id: DOID:0050866 name: oral squamous cell carcinoma def: "An oral cavity cancer that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] subset: DO_cancer_slim subset: DO_rare_slim synonym: "mouth squamous cell carcinoma" EXACT [] xref: GARD:7263 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:8618 ! oral cavity cancer created_by: lschriml creation_date: 2014-05-12T02:45:04Z [Term] id: DOID:0050867 name: obsolete Jensen syndrome def: "A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia." [url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2868&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3213&Disease(s)/group%20of%20diseases=Jensen-syndrome&title=Jensen-syndrome&search=Disease_Search_Simple, url:https\://www.ncbi.nlm.nih.gov/pubmed/3425626, url:https\://www.ncbi.nlm.nih.gov/pubmed/7195649] synonym: "opticoacoustic nerve atrophy with dementia" EXACT [] is_obsolete: true created_by: lschriml creation_date: 2014-06-03T01:18:20Z [Term] id: DOID:0050868 name: hepatocellular adenoma def: "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures." [url:https\://en.wikipedia.org/wiki/Hepatocellular_adenoma] is_a: DOID:657 ! adenoma is_a: DOID:916 ! liver benign neoplasm created_by: lschriml creation_date: 2014-06-25T05:07:35Z [Term] id: DOID:0050869 name: villous adenoma def: "An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/villous-adenoma] xref: ICDO:8261/0 is_a: DOID:657 ! adenoma created_by: lschriml creation_date: 2014-06-25T05:08:30Z [Term] id: DOID:0050870 name: pulmonary adenocarcinoma in situ def: "A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern." [url:http\://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma] synonym: "bronchioalveolar carcinoma" EXACT [] is_a: DOID:8800 ! lung carcinoma in situ created_by: lschriml creation_date: 2014-06-25T05:10:52Z [Term] id: DOID:0050871 name: fibroma def: "A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue." [url:https\://en.wikipedia.org/wiki/Fibroma] subset: DO_cancer_slim xref: ICDO:8810/0 xref: MESH:D005350 is_a: DOID:0060123 ! connective tissue benign neoplasm property_value: exactMatch "MESH:D005350" xsd:string created_by: lschriml creation_date: 2014-06-25T05:14:03Z [Term] id: DOID:0050872 name: large cell neuroendocrine carcinoma def: "A lung large cell carcinoma that derives_from neuroendocrine cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15999058] xref: ICDO:8013/3 is_a: DOID:4556 ! lung large cell carcinoma created_by: lschriml creation_date: 2014-06-25T05:17:11Z [Term] id: DOID:0050873 name: follicular lymphoma def: "A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts)." [url:http\://en.wikipedia.org/wiki/Follicular_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=428287] subset: DO_cancer_slim subset: DO_rare_slim xref: GARD:2356 xref: ICDO:9690/3 xref: MESH:D008224 xref: MIM:151430 is_a: DOID:707 ! B-cell lymphoma created_by: lschriml creation_date: 2014-06-25T05:24:10Z [Term] id: DOID:0050875 name: obsolete small cell neuroendocrine carcinoma of the lung is_obsolete: true created_by: lschriml creation_date: 2014-06-25T05:31:24Z [Term] id: DOID:0050876 name: Caroli disease def: "A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts." [url:http\://en.wikipedia.org/wiki/Caroli_disease, url:http\://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6002 xref: MESH:D016767 xref: NCI:C84619 xref: SNOMEDCT_US_2023_03_01:717232005 xref: UMLS_CUI:C0162510 is_a: DOID:4138 ! bile duct disease created_by: lschriml creation_date: 2014-07-09T01:28:09Z [Term] id: DOID:0050877 name: pancreatic agenesis def: "A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf] subset: DO_rare_slim synonym: "Agenesis of the dorsal pancreas" EXACT [] synonym: "partial pancreatic agenesis" EXACT [] xref: GARD:4203 xref: MIM:PS260370 xref: ORDO:2805 is_a: DOID:26 ! pancreas disease created_by: lschriml creation_date: 2014-07-09T03:35:41Z [Term] id: DOID:0050878 name: obsolete CLONE OF congenital afibrinogenemia comment: OMIM mapping confirmed by DO. [SN]. synonym: "Factor I deficiency" EXACT [] synonym: "Fibrinogen deficiency" EXACT [] is_obsolete: true created_by: lschriml creation_date: 2014-07-29T01:17:13Z [Term] id: DOID:0050879 name: fragile X-associated tremor/ataxia syndrome def: "A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA." [url:http\://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome, url:http\://omim.org/entry/300623, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256, url:https\://www.ncbi.nlm.nih.gov/pubmed/18195136] subset: DO_FlyBase_slim synonym: "FXTAS syndrome" EXACT [] xref: MIM:300623 is_a: DOID:0050953 ! X-linked hereditary ataxia created_by: lschriml creation_date: 2014-08-04T01:52:12Z [Term] id: DOID:0050880 name: Koolen de Vries syndrome alt_id: DOID:0070076 def: "A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene." [url:http\://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome, url:http\://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome, url:http\://omim.org/entry/610443, url:http\://www.17q21.com/en/, url:http\://www.ncbi.nlm.nih.gov/books/NBK24676/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169, url:https\://www.ncbi.nlm.nih.gov/pubmed/19447831, url:https\://www.ncbi.nlm.nih.gov/pubmed/22544363, url:https\://www.ncbi.nlm.nih.gov/pubmed/22544367] subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "17q21.31 microdeletion syndrome" EXACT [] synonym: "KANSL1-related intellectual disability syndrome" EXACT [] synonym: "KdVS" EXACT OMO:0003012 [] synonym: "Koolen-De Vries syndrome" EXACT [] xref: GARD:10727 xref: MIM:610443 xref: ORDO:96169 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2014-08-06T12:57:12Z [Term] id: DOID:0050881 name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia def: "A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein." [url:http\://omim.org/entry/167320, url:https\://www.ncbi.nlm.nih.gov/pubmed/19380227, url:https\://www.ncbi.nlm.nih.gov/pubmed/21304887, url:https\://www.ncbi.nlm.nih.gov/pubmed/21892620] subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "IBMPFD" EXACT OMO:0003012 [] synonym: "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia" EXACT [] xref: MESH:C563476 xref: MIM:PS167320 xref: ORDO:52430 is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2014-08-06T02:30:16Z [Term] id: DOID:0050882 name: spinocerebellar ataxia type 5 def: "An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene." [url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766, url:https\://www.ncbi.nlm.nih.gov/pubmed/20368622] subset: DO_FlyBase_slim subset: DO_rare_slim xref: GARD:4953 xref: MIM:600224 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2014-08-06T03:51:03Z [Term] id: DOID:0050883 name: infantile cerebellar-retinal degeneration def: "A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration." [url:http\://omim.org/entry/614559, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850, url:http\://www.uniprot.org/diseases/DI-03409, url:https\://www.ncbi.nlm.nih.gov/pubmed/22405087, url:https\://www.ncbi.nlm.nih.gov/pubmed/23438437] subset: DO_FlyBase_slim subset: DO_rare_slim xref: GARD:13264 xref: MIM:614559 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1289 ! neurodegenerative disease created_by: lschriml creation_date: 2014-08-06T04:09:42Z [Term] id: DOID:0050884 name: triosephosphate isomerase deficiency def: "A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait." [url:http\://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency, url:http\://omim.org/entry/615512, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport, url:https\://www.ncbi.nlm.nih.gov/pubmed/16980388, url:https\://www.ncbi.nlm.nih.gov/pubmed/17424909, url:https\://www.ncbi.nlm.nih.gov/pubmed/23318931] subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "Triose phosphate-isomerase deficiency" EXACT [] xref: GARD:5287 xref: MESH:C566029 xref: MIM:615512 is_a: DOID:4194 ! glucose metabolism disease created_by: lschriml creation_date: 2014-08-07T11:44:31Z [Term] id: DOID:0050885 name: IMAGe syndrome def: "A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene." [url:http\://omim.org/entry/614732, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173, url:https\://www.ncbi.nlm.nih.gov/pubmed/14760276, url:https\://www.ncbi.nlm.nih.gov/pubmed/22634751, url:https\://www.ncbi.nlm.nih.gov/pubmed/23719190, url:https\://www.ncbi.nlm.nih.gov/pubmed/24065356] subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities" EXACT [] xref: GARD:12312 xref: MIM:614732 is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2014-08-07T12:04:30Z [Term] id: DOID:0050886 name: Troyer syndrome def: "A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene." [url:http\://en.wikipedia.org/wiki/SPG20, url:http\://ghr.nlm.nih.gov/condition/troyer-syndrome, url:http\://ghr.nlm.nih.gov/gene/SPG20, url:http\://omim.org/entry/275900, url:http\://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301556] subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 20" EXACT [] synonym: "autosomal recessive spastic paraplegia Troyer type" EXACT [] synonym: "autosomal recessive spastic paraplegia type 20" EXACT [] synonym: "childhood-onset spastic paraparesis with distal muscle wasting" EXACT [] synonym: "hereditary spastic paraplegia 20" EXACT [] synonym: "spastic paraplegia 20" EXACT [] synonym: "spastic paraplegia type 20" EXACT [] synonym: "SPG20" EXACT OMO:0003012 [] xref: GARD:5372 xref: ICD10CM:G11.4 xref: MIM:275900 xref: ORDO:101000 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: lschriml creation_date: 2014-08-07T12:18:56Z [Term] id: DOID:0050887 name: Townes-Brocks syndrome def: "A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations." [url:http\://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome, url:http\://ghr.nlm.nih.gov/condition/townes-brocks-syndrome, url:http\://www.omim.org/entry/107480, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple, url:https\://www.ncbi.nlm.nih.gov/pubmed/12925729] subset: DO_FlyBase_slim subset: DO_rare_slim xref: GARD:7784 xref: MESH:C536974 xref: MIM:107480 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome created_by: lschriml creation_date: 2014-08-11T03:58:35Z [Term] id: DOID:0050888 name: syndromic intellectual disability def: "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms." [url:http\://en.wikipedia.org/wiki/Intellectual_disability] subset: DO_FlyBase_slim is_a: DOID:1059 ! intellectual disability created_by: lschriml creation_date: 2014-08-14T10:55:32Z [Term] id: DOID:0050889 name: non-syndromic intellectual disability def: "An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms." [url:http\://en.wikipedia.org/wiki/Intellectual_disability, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/] is_a: DOID:1059 ! intellectual disability created_by: lschriml creation_date: 2014-08-14T10:57:36Z [Term] id: DOID:0050890 name: synucleinopathy def: "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells." [url:http\://en.wikipedia.org/wiki/Synucleinopathies] subset: DO_FlyBase_slim synonym: "alpha Synucleinopathies" EXACT [] synonym: "Synucleinopathies" EXACT [] is_a: DOID:1289 ! neurodegenerative disease created_by: lschriml creation_date: 2014-08-14T03:29:17Z [Term] id: DOID:0050891 name: adrenal cortical adenoma def: "An adrenal adenoma that is a benign tumor of the adrenal cortex." [url:http\://en.wikipedia.org/wiki/Adrenocortical_adenoma] synonym: "adrenocortical adenoma" EXACT [] xref: ICDO:8370/0 is_a: DOID:656 ! adrenal adenoma created_by: lschriml creation_date: 2014-09-04T01:54:59Z [Term] id: DOID:0050892 name: adrenal gland pheochromocytoma def: "A malignant pheochromocytoma that is characterized by overproduction of adrenaline." [url:http\://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma, url:http\://en.wikipedia.org/wiki/Pheochromocytoma, url:http\://www.cancer.gov/cancertopics/types/pheochromocytoma] subset: DO_cancer_slim is_a: DOID:0080347 ! malignant pheochromocytoma created_by: lschriml creation_date: 2014-09-11T01:01:57Z [Term] id: DOID:0050893 name: gallbladder adenoma def: "A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder." [url:http\://en.wikipedia.org/wiki/Adenoma] is_a: DOID:0080640 ! gallbladder benign neoplasm is_a: DOID:657 ! adenoma created_by: lschriml creation_date: 2014-09-11T01:53:07Z [Term] id: DOID:0050894 name: ameloblastoma def: "A cell type benign neoplasm that has_material_basis_in odontogenic epithelium." [url:http\://en.wikipedia.org/wiki/Ameloblastoma] subset: DO_cancer_slim subset: DO_rare_slim xref: GARD:5747 xref: ICDO:9310/0 xref: MESH:D000564 is_a: DOID:0060084 ! cell type benign neoplasm property_value: exactMatch "MESH:D000564" xsd:string created_by: lschriml creation_date: 2014-09-11T02:44:50Z [Term] id: DOID:0050895 name: bone ameloblastoma def: "A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone." [url:http\://en.wikipedia.org/wiki/Ameloblastoma] is_a: DOID:0060094 ! bone benign neoplasm created_by: lschriml creation_date: 2014-09-11T02:46:51Z [Term] id: DOID:0050896 name: bone squamous cell carcinoma def: "A bone carcinoma that derives_from squamous epithelial cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] subset: DO_cancer_slim is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:2762 ! bone carcinoma created_by: lschriml creation_date: 2014-09-11T02:50:46Z [Term] id: DOID:0050897 name: bone chondrosarcoma def: "A chondrosarcoma that is located_in bone." [url:http\://en.wikipedia.org/wiki/Chondrosarcoma] subset: DO_cancer_slim is_a: DOID:3371 ! chondrosarcoma created_by: lschriml creation_date: 2014-09-11T02:55:07Z [Term] id: DOID:0050898 name: phalanx chondroma def: "A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells." [url:http\://en.wikipedia.org/wiki/Chondroma] is_a: DOID:0060094 ! bone benign neoplasm is_a: DOID:2602 ! chondroma created_by: lschriml creation_date: 2014-09-11T03:42:42Z [Term] id: DOID:0050899 name: brain stem medulloblastoma def: "A brain stem cancer that begins in the lower part of the brain on the floor of the skull." [url:http\://en.wikipedia.org/wiki/Medulloblastoma] subset: DO_cancer_slim is_a: DOID:0050902 ! medulloblastoma is_a: DOID:4203 ! brain stem cancer created_by: lschriml creation_date: 2014-10-06T14:23:29Z [Term] id: DOID:0050900 name: sacrum chordoma def: "A spinal chordoma that is located_in the sacrum." [url:http\://en.wikipedia.org/wiki/Sacrum, url:http\://www.cancer.gov/dictionary?CdrID=45297] subset: DO_cancer_slim is_a: DOID:4153 ! spinal chordoma created_by: lschriml creation_date: 2014-10-06T14:25:16Z [Term] id: DOID:0050901 name: corpus callosum oligodendroglioma def: "A brain oligodendroglioma located_in the corpus callosum." [url:http\://en.wikipedia.org/wiki/Corpus_callosum, url:http\://en.wikipedia.org/wiki/Oligodendroglioma, url:http\://www.cancer.gov/dictionary?CdrID=46257] subset: DO_cancer_slim is_a: DOID:3181 ! oligodendroglioma is_a: DOID:3187 ! brain oligodendroglioma created_by: lschriml creation_date: 2014-10-06T14:26:18Z [Term] id: DOID:0050902 name: medulloblastoma alt_id: DOID:0060105 alt_id: DOID:168 alt_id: DOID:3858 alt_id: DOID:4981 def: "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor." [url:http\://en.wikipedia.org/wiki/Medulloblastoma, url:http\://www.cancer.gov/dictionary?CdrID=45780, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306779/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_RAD_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "brain medulloblastoma" EXACT [] synonym: "CNS PNET" EXACT OMO:0003012 [] synonym: "CPNET" EXACT OMO:0003012 [] synonym: "infratentorial primitive neuroectodermal tumor" EXACT [] synonym: "localized primitive neuroectodermal tumor" EXACT [] synonym: "Medulloblastoma, histologically defined" EXACT [] xref: GARD:7005 xref: ICDO:9470/3 xref: MESH:D008527 xref: MESH:D018242 xref: MIM:155255 xref: NCI:C27294 xref: NCI:C3222 xref: NCI:C3716 xref: ORDO:616 xref: SNOMEDCT_US_2023_03_01:189925001 xref: SNOMEDCT_US_2023_03_01:443333004 xref: UMLS_CUI:C0025149 xref: UMLS_CUI:C0206663 xref: UMLS_CUI:C1334410 is_a: DOID:4706 ! infratentorial cancer created_by: lschriml creation_date: 2014-10-06T14:36:37Z [Term] id: DOID:0050903 name: parietal lobe ependymoma def: "A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain." [url:http\://www.cancer.gov/dictionary?CdrID=46432] subset: DO_cancer_slim is_a: DOID:14384 ! parietal lobe neoplasm created_by: lschriml creation_date: 2014-10-08T16:00:54Z [Term] id: DOID:0050904 name: salivary gland carcinoma def: "A salivary gland cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Salivary_gland_neoplasm, url:http\://www.cancer.gov/dictionary?CdrID=45963] subset: DO_cancer_slim is_a: DOID:305 ! carcinoma is_a: DOID:8850 ! salivary gland cancer created_by: lschriml creation_date: 2014-10-08T16:52:58Z [Term] id: DOID:0050905 name: inflammatory myofibroblastic tumor def: "A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23091756] subset: DO_cancer_slim subset: DO_rare_slim xref: GARD:7146 is_a: DOID:3350 ! mesenchymal cell neoplasm created_by: lschriml creation_date: 2014-10-09T14:18:08Z [Term] id: DOID:0050906 name: conjunctival nevus def: "A sensory organ benign neoplasm that is located in the eye conjunctiva." [url:http\://en.wikipedia.org/wiki/Conjunctiva, url:http\://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors] is_a: DOID:0060096 ! sensory organ benign neoplasm is_a: DOID:4251 ! conjunctival disease created_by: lschriml creation_date: 2014-10-13T11:47:25Z [Term] id: DOID:0050907 name: mixed extragonadal germ cell cancer def: "A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle." [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed, url:http\://www.cancer.gov/dictionary?CdrID=444993] subset: DO_cancer_slim is_a: DOID:3306 ! mixed germ cell cancer created_by: lschriml creation_date: 2014-10-13T12:37:37Z [Term] id: DOID:0050908 name: myelodysplastic syndrome def: "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets." [url:http\://en.wikipedia.org/wiki/Myelodysplastic_syndrome, url:http\://www.cancer.gov/dictionary?CdrID=45266] subset: DO_cancer_slim subset: DO_rare_slim xref: GARD:7132 xref: ICDO:9989/3 xref: MESH:D009190 xref: MIM:614286 xref: UMLS_CUI:C2713368 is_a: DOID:4960 ! bone marrow cancer created_by: lschriml creation_date: 2014-10-13T12:51:33Z [Term] id: DOID:0050909 name: extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue def: "A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production." [url:http\://www.cancer.gov/dictionary?CdrID=45774, url:http\://www.cancerresearchuk.org/about-cancer/non-hodgkin-lymphoma/types/malt] subset: DO_cancer_slim subset: NCIthesaurus synonym: "MALT lymphoma" EXACT [] synonym: "MALT lymphoma of the dura" EXACT [] synonym: "mucosa-associated lymphoid tissue lymphoma" EXACT [] xref: ICDO:9699/3 xref: MIM:137245 xref: NCI:C3898 is_a: DOID:0050748 ! marginal zone lymphoma created_by: lschriml creation_date: 2014-10-13T14:17:40Z [Term] id: DOID:0050910 name: cecum adenoma def: "A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin." [url:http\://en.wikipedia.org/wiki/Adenoma] synonym: "caecum adenoma" EXACT [] is_a: DOID:1517 ! cecal benign neoplasm is_a: DOID:657 ! adenoma created_by: lschriml creation_date: 2014-10-13T14:41:01Z [Term] id: DOID:0050911 name: appendix carcinoid tumor def: "An appendix cancer that has_material_basis_in neurodendocrine cells." [url:http\://en.wikipedia.org/wiki/Carcinoid, url:http\://www.cancer.gov/dictionary?CdrID=44233] subset: DO_cancer_slim synonym: "appendix carcinoid endocrine tumour" EXACT [] is_a: DOID:11239 ! appendix cancer created_by: lschriml creation_date: 2014-10-13T14:45:41Z [Term] id: DOID:0050912 name: colon adenoma def: "A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin." [url:http\://en.wikipedia.org/wiki/Colorectal_adenoma, url:http\://www.cancer.gov/dictionary?CdrID=46217] is_a: DOID:235 ! colonic benign neoplasm is_a: DOID:657 ! adenoma created_by: lschriml creation_date: 2014-10-13T14:56:27Z [Term] id: DOID:0050913 name: large intestine adenocarcinoma def: "A large intestine cancer that has_material_basis_in epithelial cells of glandular origin." [url:http\://www.cancer.gov/dictionary?CdrID=46216] subset: DO_cancer_slim is_a: DOID:299 ! adenocarcinoma is_a: DOID:5672 ! large intestine cancer created_by: lschriml creation_date: 2014-10-13T15:00:10Z [Term] id: DOID:0050914 name: large intestine adenoma def: "An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine." [url:http\://en.wikipedia.org/wiki/Adenoma] is_a: DOID:4610 ! intestinal benign neoplasm is_a: DOID:657 ! adenoma created_by: lschriml creation_date: 2014-10-13T15:07:10Z [Term] id: DOID:0050915 name: rectal adenoma def: "An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin." [url:http\://en.wikipedia.org/wiki/Adenoma] subset: NCIthesaurus synonym: "rectum adenoma" EXACT [] xref: NCI:C5546 is_a: DOID:1984 ! rectal benign neoplasm is_a: DOID:657 ! adenoma created_by: lschriml creation_date: 2014-10-13T15:09:51Z [Term] id: DOID:0050916 name: bronchus mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in the bronchus." [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma] subset: DO_cancer_slim is_a: DOID:4531 ! mucoepidermoid carcinoma created_by: lschriml creation_date: 2014-10-13T15:13:54Z [Term] id: DOID:0050917 name: lung combined type small cell adenocarcinoma def: "A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin." [url:http\://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=45327, url:http\://www.cancer.gov/dictionary?CdrID=46216] subset: DO_cancer_slim is_a: DOID:299 ! adenocarcinoma is_a: DOID:5421 ! lung combined type small cell carcinoma created_by: lschriml creation_date: 2014-10-13T15:36:11Z [Term] id: DOID:0050918 name: vaginal carcinoma def: "A vaginal cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: DO_cancer_slim is_a: DOID:119 ! vaginal cancer is_a: DOID:305 ! carcinoma created_by: lschriml creation_date: 2014-10-21T11:37:19Z [Term] id: DOID:0050919 name: trachea mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in the trachea." [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma] subset: DO_cancer_slim is_a: DOID:11920 ! tracheal cancer is_a: DOID:4531 ! mucoepidermoid carcinoma created_by: lschriml creation_date: 2014-10-21T11:42:42Z [Term] id: DOID:0050920 name: tonsil squamous cell carcinoma def: "A tonsil cancer that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] subset: DO_cancer_slim is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:8858 ! tonsil cancer created_by: lschriml creation_date: 2014-10-21T11:48:00Z [Term] id: DOID:0050921 name: pharynx squamous cell carcinoma def: "A pharynx cancer that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] subset: DO_cancer_slim is_a: DOID:0060119 ! pharynx cancer is_a: DOID:1749 ! squamous cell carcinoma created_by: lschriml creation_date: 2014-10-21T11:54:00Z [Term] id: DOID:0050922 name: gastrointestinal carcinoma def: "A gastrointestinal system cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: DO_cancer_slim is_a: DOID:305 ! carcinoma is_a: DOID:3119 ! gastrointestinal system cancer created_by: lschriml creation_date: 2014-10-21T11:56:36Z [Term] id: DOID:0050923 name: spindle epithelial tumor with thymus-like differentiation tumor def: "A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands." [url:http\://www.pathologyoutlines.com/topic/thyroidsettle.html, url:http\://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext, url:https\://www.ncbi.nlm.nih.gov/pubmed/19417583, url:https\://www.ncbi.nlm.nih.gov/pubmed/2050369] subset: DO_cancer_slim synonym: "SETTLE tumor" EXACT [] synonym: "SETTLE tumour" EXACT [] synonym: "spindle epithelial tumour with thymus-like differentiation tumour" EXACT [] is_a: DOID:3963 ! thyroid gland carcinoma created_by: lschriml creation_date: 2014-10-21T12:26:31Z [Term] id: DOID:0050924 name: striated muscle rhabdoid tumor def: "A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm." [url:http\://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour, url:http\://www.cancer.gov/dictionary?CdrID=46139] subset: DO_cancer_slim is_a: DOID:4045 ! muscle cancer created_by: lschriml creation_date: 2014-10-21T12:38:23Z [Term] id: DOID:0050925 name: small intestine carcinoid neuroendocrine tumor def: "A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine." [url:http\://en.wikipedia.org/wiki/Carcinoid] subset: DO_cancer_slim synonym: "intestinal carcinoid tumour" BROAD [] xref: MIM:114900 is_a: DOID:10154 ! small intestine cancer is_a: DOID:169 ! neuroendocrine tumor created_by: lschriml creation_date: 2014-10-21T12:58:08Z [Term] id: DOID:0050926 name: jejunal adenocarcinoma def: "A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: DO_cancer_slim is_a: DOID:13499 ! jejunal cancer is_a: DOID:299 ! adenocarcinoma created_by: lschriml creation_date: 2014-10-21T13:00:15Z [Term] id: DOID:0050927 name: duodenum adenoma def: "A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin." [url:http\://en.wikipedia.org/wiki/Adenoma] is_a: DOID:1737 ! duodenal benign neoplasm is_a: DOID:657 ! adenoma created_by: lschriml creation_date: 2014-10-21T13:02:15Z [Term] id: DOID:0050928 name: ovarian melanoma def: "An ovarian cancer that has_material_basis_in melanoctyes." [url:http\://en.wikipedia.org/wiki/Melanoma, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/, url:https\://www.ncbi.nlm.nih.gov/pubmed/15166669] subset: DO_cancer_slim is_a: DOID:2394 ! ovarian cancer created_by: lschriml creation_date: 2014-10-21T13:27:44Z [Term] id: DOID:0050929 name: mucosal melanoma def: "A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic] subset: DO_cancer_slim is_a: DOID:1909 ! melanoma created_by: lschriml creation_date: 2014-10-21T13:51:49Z [Term] id: DOID:0050930 name: sublingual gland adenoid cystic carcinoma def: "A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ." [url:http\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma] subset: DO_cancer_slim is_a: DOID:8849 ! sublingual gland cancer created_by: lschriml creation_date: 2014-10-21T14:04:40Z [Term] id: DOID:0050931 name: parotid gland adenoid cystic carcinoma def: "A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ." [url:http\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma, url:http\://en.wikipedia.org/wiki/Parotid_gland] subset: DO_cancer_slim is_a: DOID:9036 ! parotid gland cancer created_by: lschriml creation_date: 2014-10-21T14:09:29Z [Term] id: DOID:0050932 name: lung mucoepidermoid carcinoma def: "A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells." [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma] subset: DO_cancer_slim is_a: DOID:3905 ! lung carcinoma created_by: lschriml creation_date: 2014-10-21T15:13:36Z [Term] id: DOID:0050933 name: ovarian serous carcinoma def: "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid." [url:http\://en.wikipedia.org/wiki/Serous_carcinoma] subset: DO_cancer_slim is_a: DOID:4001 ! ovarian carcinoma created_by: lschriml creation_date: 2014-10-21T15:51:41Z [Term] id: DOID:0050934 name: ovarian clear cell carcinoma def: "An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells." [url:http\://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma] subset: DO_cancer_slim synonym: "clear-cell ovarian carcinoma" EXACT [] is_a: DOID:4001 ! ovarian carcinoma created_by: lschriml creation_date: 2014-10-21T15:54:52Z [Term] id: DOID:0050935 name: cervical neuroblastoma def: "An extracranial neuroblastoma that has_material_basis_in immature nerve cells." [url:http\://en.wikipedia.org/wiki/Neuroblastoma, url:http\://link.springer.com/article/10.1007%2Fs12070-007-0083-5, url:http\://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487, url:https\://www.ncbi.nlm.nih.gov/pubmed/15390353, url:https\://www.ncbi.nlm.nih.gov/pubmed/9262064] subset: DO_cancer_slim is_a: DOID:371 ! extracranial neuroblastoma created_by: lschriml creation_date: 2014-10-21T16:02:01Z [Term] id: DOID:0050936 name: extra-adrenal pheochromocytoma def: "A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin." [url:http\://en.wikipedia.org/wiki/Pheochromocytoma] subset: DO_cancer_slim is_a: DOID:0080347 ! malignant pheochromocytoma created_by: lschriml creation_date: 2014-10-22T10:25:45Z [Term] id: DOID:0050937 name: retroperitoneal neuroblastoma def: "A retroperitoneal cancer that has_material_basis_in immature nerve cells." [url:http\://en.wikipedia.org/wiki/Neuroblastoma, url:http\://en.wiktionary.org/wiki/retroperitoneal] subset: DO_cancer_slim is_a: DOID:5875 ! retroperitoneal cancer created_by: lschriml creation_date: 2014-10-22T11:18:01Z [Term] id: DOID:0050938 name: breast lobular carcinoma def: "A breast carcinoma that derives_from breast lobules (milk glands)." [url:http\://cancergenome.nih.gov/cancersselected/breastlobular, url:http\://www.cancer.gov/dictionary?CdrID=426416] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8520/3 xref: NCI:C3771 is_a: DOID:3459 ! breast carcinoma created_by: lschriml creation_date: 2014-10-22T13:05:34Z [Term] id: DOID:0050939 name: uterine corpus endometrial carcinoma def: "A uterine corpus cancer that is derives_from the inner lining of the uterus." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5165063/] subset: DO_cancer_slim is_a: DOID:9460 ! uterine corpus cancer created_by: lschriml creation_date: 2014-10-22T14:26:22Z [Term] id: DOID:0050940 name: endocervical adenocarcinoma def: "An endocervical carcinoma that derives_from epithelial cells of glandular origin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12207781] subset: DO_cancer_slim is_a: DOID:299 ! adenocarcinoma is_a: DOID:7519 ! endocervical carcinoma created_by: lschriml creation_date: 2014-10-24T15:51:48Z [Term] id: DOID:0050941 name: spastic ataxia 2 def: "A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17273843] xref: MIM:611302 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050952 ! spastic ataxia created_by: lschriml creation_date: 2015-09-18T14:13:49Z [Term] id: DOID:0050942 name: spastic ataxia 3 def: "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22448145] xref: MIM:611390 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050952 ! spastic ataxia created_by: lschriml creation_date: 2015-09-18T14:13:49Z [Term] id: DOID:0050943 name: spastic ataxia 4 def: "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20970105] xref: MIM:613672 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050952 ! spastic ataxia created_by: lschriml creation_date: 2015-09-18T14:13:49Z [Term] id: DOID:0050944 name: spastic ataxia 5 def: "A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22022284] xref: MIM:614487 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050952 ! spastic ataxia created_by: lschriml creation_date: 2015-09-18T14:13:49Z [Term] id: DOID:0050945 name: spastic ataxia 7 def: "A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6821680] xref: MIM:108650 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050952 ! spastic ataxia created_by: lschriml creation_date: 2015-09-18T14:13:49Z [Term] id: DOID:0050946 name: Charlevoix-Saguenay spastic ataxia def: "An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24384335, url:https\://www.ncbi.nlm.nih.gov/pubmed/26344561, url:https\://www.omim.org/entry/270550] subset: DO_rare_slim xref: GARD:4910 xref: MESH:C536787 xref: MIM:270550 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2015-09-18T14:13:49Z [Term] id: DOID:0050947 name: hereditary hypophosphatemic rickets with hypercalciuria def: "A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain." [url:http\://www.omim.org/entry/241530?search=241530&highlight=241530, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple] xref: MIM:241530 is_a: DOID:0080578 ! digenic disease is_a: DOID:10609 ! rickets created_by: lschriml creation_date: 2015-10-01T12:10:26Z [Term] id: DOID:0050948 name: autosomal dominant hypophosphatemic rickets def: "A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance." [url:http\://www.omim.org/entry/193100?search=193100&highlight=193100, url:https\://www.ncbi.nlm.nih.gov/pubmed/26365554] xref: MIM:193100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10609 ! rickets created_by: lschriml creation_date: 2015-10-01T12:10:30Z [Term] id: DOID:0050949 name: autosomal recessive hypophosphatemic rickets def: "A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." [url:http\://www.omim.org/entry/241520?search=241520&highlight=241520, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple] subset: DO_rare_slim xref: MIM:241520 xref: MIM:613312 xref: ORDO:289176 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10609 ! rickets created_by: lschriml creation_date: 2015-10-01T12:10:33Z [Term] id: DOID:0050950 name: autosomal recessive cerebellar ataxia def: "A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance." [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138/] subset: DO_rare_slim xref: MIM:PS213200 xref: ORDO:1172 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050753 ! cerebellar ataxia created_by: lschriml creation_date: 2015-10-05T14:21:08Z [Term] id: DOID:0050951 name: hereditary ataxia def: "A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements." [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138] subset: DO_rare_slim xref: GARD:6614 is_a: DOID:1289 ! neurodegenerative disease created_by: lschriml creation_date: 2015-10-05T14:38:17Z [Term] id: DOID:0050952 name: spastic ataxia def: "A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24384335, url:https\://www.ncbi.nlm.nih.gov/pubmed/26344561] xref: MESH:C564815 is_a: DOID:0050951 ! hereditary ataxia created_by: lschriml creation_date: 2015-10-05T14:39:34Z [Term] id: DOID:0050953 name: X-linked hereditary ataxia def: "A hereditary ataxia that is characterized by X-linked inheritance." [url:https\://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/] is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050951 ! hereditary ataxia created_by: lschriml creation_date: 2015-10-05T15:41:09Z [Term] id: DOID:0050954 name: spinocerebellar ataxia type 1 def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22." [url:https\://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1] subset: DO_rare_slim xref: GARD:4071 xref: MIM:164400 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-05T16:07:27Z [Term] id: DOID:0050955 name: spinocerebellar ataxia type 2 def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene." [url:https\://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2] xref: MIM:183090 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-05T16:07:27Z [Term] id: DOID:0050956 name: spinocerebellar ataxia type 6 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene." [url:https\://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6] subset: DO_rare_slim xref: GARD:10351 xref: MIM:183086 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-05T16:07:27Z [Term] id: DOID:0050957 name: spinocerebellar ataxia type 4 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy, has_material_basis_in mutation in the SCA4 gene." [url:https\://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4] subset: DO_rare_slim xref: GARD:9970 xref: MESH:D020754 xref: MIM:600223 xref: ORDO:98765 xref: SNOMEDCT_US_2023_03_01:715755008 xref: UMLS_CUI:C0752122 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-05T16:07:27Z [Term] id: DOID:0050958 name: spinocerebellar ataxia type 7 def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene." [url:https\://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7] xref: MIM:164500 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-05T16:07:27Z [Term] id: DOID:0050959 name: spinocerebellar ataxia type 8 def: "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene." [url:https\://rarediseases.info.nih.gov/diseases/4956/spinocerebellar-ataxia-8] xref: MIM:608768 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-05T16:12:39Z [Term] id: DOID:0050960 name: spinocerebellar ataxia type 10 def: "An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1175/] subset: DO_rare_slim xref: GARD:10474 xref: MIM:603516 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-05T16:12:39Z [Term] id: DOID:0050961 name: spinocerebellar ataxia type 11 def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene." [url:https\://rarediseases.info.nih.gov/diseases/10475/spinocerebellar-ataxia-11] xref: MIM:604432 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-05T16:12:39Z [Term] id: DOID:0050962 name: spinocerebellar ataxia type 12 def: "An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene." [url:https\://rarediseases.info.nih.gov/diseases/10476/spinocerebellar-ataxia-12] xref: MIM:604326 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-05T16:12:39Z [Term] id: DOID:0050963 name: spinocerebellar ataxia type 13 def: "An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene." [url:https\://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-13] xref: MIM:605259 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-05T16:12:39Z [Term] id: DOID:0050964 name: spinocerebellar ataxia type 14 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene." [url:https\://rarediseases.info.nih.gov/diseases/9867/spinocerebellar-ataxia-14] xref: MIM:605361 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-05T16:12:39Z [Term] id: DOID:0050965 name: spinocerebellar ataxia type 15 alt_id: DOID:0050966 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene." [url:https\://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-15] synonym: "spinocerebellar ataxia type 16" EXACT [] xref: MIM:606658 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-05T16:12:39Z [Term] id: DOID:0050966 name: obsolete spinocerebellar ataxia type 16 def: "An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia, dysarthria, nystagmus, peripheral neuropathy and limb spasticity, has_material_basis_in mutation in the STUB1 gene." [url:https\://www.omim.org/entry/615768] is_obsolete: true created_by: lschriml creation_date: 2015-10-05T16:12:39Z [Term] id: DOID:0050967 name: spinocerebellar ataxia type 17 def: "An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene." [url:https\://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-17] subset: DO_rare_slim xref: GARD:10469 xref: MIM:607136 is_a: DOID:0080578 ! digenic disease is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-05T16:12:39Z [Term] id: DOID:0050968 name: autosomal dominant cerebellar ataxia, deafness and narcolepsy def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene." [url:https\://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy] subset: DO_rare_slim xref: GARD:12372 xref: MIM:604121 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-05T16:12:39Z [Term] id: DOID:0050969 name: spinocerebellar ataxia type 18 def: "An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23." [url:https\://rarediseases.info.nih.gov/diseases/9976/spinocerebellar-ataxia-18] subset: DO_rare_slim xref: GARD:9976 xref: MIM:607458 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050970 name: spinocerebellar ataxia type 19/22 def: "An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor." [url:https\://rarediseases.info.nih.gov/diseases/12365/spinocerebellar-ataxia-19-and-22] subset: DO_rare_slim xref: GARD:12365 xref: MIM:607346 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050971 name: spinocerebellar ataxia type 20 def: "An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria." [url:https\://rarediseases.info.nih.gov/diseases/9997/spinocerebellar-ataxia-20] subset: DO_rare_slim xref: GARD:9997 xref: MIM:608687 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050972 name: spinocerebellar ataxia type 21 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity." [url:https\://rarediseases.info.nih.gov/diseases/9999/spinocerebellar-ataxia-21] subset: DO_rare_slim xref: GARD:9999 xref: MIM:607454 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050973 name: spinocerebellar ataxia type 23 def: "An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene." [url:https\://rarediseases.info.nih.gov/diseases/9950/spinocerebellar-ataxia-23] xref: MIM:610245 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050974 name: spinocerebellar ataxia type 25 def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21." [url:https\://rarediseases.info.nih.gov/diseases/9996/spinocerebellar-ataxia-25] subset: DO_rare_slim xref: GARD:9996 xref: MESH:C537202 xref: MIM:608703 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050975 name: spinocerebellar ataxia type 26 def: "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene." [url:https\://rarediseases.info.nih.gov/diseases/9995/spinocerebellar-ataxia-26] subset: DO_rare_slim xref: GARD:9995 xref: MESH:C537203 xref: MIM:609306 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050976 name: spinocerebellar ataxia type 27 alt_id: DOID:0111794 def: "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome." [url:https\://rarediseases.info.nih.gov/diseases/9963/spinocerebellar-ataxia-27] subset: DO_rare_slim synonym: "autosomal dominant congenital nystagmus 4" EXACT [] synonym: "congenital nystagmus 4" EXACT [] synonym: "vestibulocerebellar disorder with predominant ocular signs" EXACT [] xref: GARD:9603 xref: MIM:193003 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050977 name: spinocerebellar ataxia type 28 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene." [url:https\://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28] xref: MIM:610246 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050978 name: spinocerebellar ataxia type 29 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene." [url:https\://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29] xref: MIM:117360 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050979 name: spinocerebellar ataxia type 30 def: "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene." [url:https\://www.omim.org/entry/613371] subset: DO_rare_slim xref: GARD:4950 xref: MIM:613371 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050980 name: spinocerebellar ataxia type 31 def: "An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene." [url:https\://rarediseases.info.nih.gov/diseases/9975/spinocerebellar-ataxia-31] xref: MIM:117210 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050981 name: spinocerebellar ataxia type 34 def: "An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene." [url:https\://rarediseases.info.nih.gov/diseases/59/spinocerebellar-ataxia-34] xref: MIM:133190 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050982 name: spinocerebellar ataxia type 35 def: "An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene." [url:https\://www.omim.org/entry/613908] xref: MIM:613908 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050983 name: spinocerebellar ataxia type 36 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene." [url:https\://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36] xref: MIM:614153 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050984 name: spinocerebellar ataxia type 37 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene." [url:https\://www.omim.org/entry/615945] xref: MIM:615945 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050985 name: spinocerebellar ataxia type 38 def: "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene." [url:https\://www.omim.org/entry/615957] xref: MIM:615957 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050986 name: spinocerebellar ataxia type 40 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene." [url:https\://www.omim.org/entry/616053] xref: MIM:616053 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:11:07Z [Term] id: DOID:0050987 name: hypomyelinating leukoencephalopathy def: "An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22232354] is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:24:06Z [Term] id: DOID:0050988 name: GRID2-related spinocerebellar ataxia def: "An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss." [url:https\://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/] is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-06T16:24:06Z [Term] id: DOID:0050989 name: episodic ataxia type 1 def: "An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1." [url:https\://www.omim.org/entry/160120] xref: MIM:160120 is_a: DOID:963 ! episodic ataxia created_by: lschriml creation_date: 2015-10-06T16:26:26Z [Term] id: DOID:0050990 name: episodic ataxia type 2 def: "An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A." [url:https\://www.omim.org/entry/108500] xref: MESH:C535506 xref: MIM:108500 is_a: DOID:963 ! episodic ataxia created_by: lschriml creation_date: 2015-10-06T16:26:26Z [Term] id: DOID:0050991 name: episodic ataxia type 3 def: "An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance." [url:https\://www.omim.org/entry/606554] xref: MIM:606554 is_a: DOID:963 ! episodic ataxia created_by: lschriml creation_date: 2015-10-06T16:26:26Z [Term] id: DOID:0050992 name: episodic ataxia type 4 def: "An episodic ataxia that is characterized by vertigo and diplopia." [url:https\://www.omim.org/entry/606552] xref: MIM:606552 is_a: DOID:963 ! episodic ataxia created_by: lschriml creation_date: 2015-10-06T16:26:26Z [Term] id: DOID:0050993 name: episodic ataxia type 5 def: "An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene." [url:https\://www.omim.org/entry/613855] xref: MIM:613855 is_a: DOID:963 ! episodic ataxia created_by: lschriml creation_date: 2015-10-06T16:26:26Z [Term] id: DOID:0050994 name: episodic ataxia type 6 def: "An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene." [url:https\://www.omim.org/entry/612656] xref: MIM:612656 is_a: DOID:963 ! episodic ataxia created_by: lschriml creation_date: 2015-10-06T16:26:26Z [Term] id: DOID:0050995 name: episodic ataxia type 7 def: "An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance." [url:https\://www.omim.org/entry/611907] xref: MIM:611907 is_a: DOID:963 ! episodic ataxia created_by: lschriml creation_date: 2015-10-06T16:26:26Z [Term] id: DOID:0050996 name: episodic ataxia type 8 def: "An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene." [url:https\://www.omim.org/entry/616055] xref: MIM:616055 is_a: DOID:963 ! episodic ataxia created_by: lschriml creation_date: 2015-10-07T13:38:56Z [Term] id: DOID:0050997 name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome def: "A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia." [url:https\://pubmed.ncbi.nlm.nih.gov/21885617/, url:https\://pubmed.ncbi.nlm.nih.gov/33981800/, url:https\://pubmed.ncbi.nlm.nih.gov/38109455/, url:https\://pubmed.ncbi.nlm.nih.gov/38581205/] {comment="url:https://pubmed.ncbi.nlm.nih.gov/28013290/"} subset: DO_rare_slim synonym: "CAMRQ" EXACT OMO:0003012 [] synonym: "CAMRQ syndrome" EXACT [] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion" EXACT [] synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome" EXACT [] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome" EXACT [] synonym: "DES" EXACT OMO:0003012 [] synonym: "disequilibrium syndrome" RELATED [] synonym: "dysequilibrium syndrome" RELATED [] synonym: "Uner Tan syndrome" EXACT [] synonym: "UTS" EXACT OMO:0003012 [] xref: GARD:1998 xref: MESH:C535731 xref: MIM:PS224050 xref: ORDO:1766 xref: UMLS_CUI:C0394006 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome property_value: exactMatch "GARD:1998" xsd:string property_value: exactMatch "MESH:C535731" xsd:string property_value: exactMatch "MIM:PS224050" xsd:string property_value: exactMatch "ORDO:1766" xsd:string property_value: exactMatch "UMLS_CUI:C0394006" xsd:string created_by: lschriml creation_date: 2015-10-07T13:48:09Z [Term] id: DOID:0050998 name: nonprogressive cerebellar ataxia with mental retardation def: "An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene." [url:https\://www.omim.org/entry/614756] xref: MIM:614756 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: lschriml creation_date: 2015-10-07T14:08:24Z [Term] id: DOID:0050999 name: autosomal recessive spinocerebellar ataxia 10 def: "An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene." [url:https\://www.omim.org/entry/613728] synonym: "SCAR10" EXACT OMO:0003012 [] xref: MIM:613728 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2015-10-07T14:43:23Z [Term] id: DOID:0060000 name: infective endocarditis def: "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents." [url:http\://en.wikipedia.org/wiki/Endocarditis, url:http\://en.wikipedia.org/wiki/Infective_endocarditis] subset: DO_infectious_disease_slim subset: DO_rare_slim xref: GARD:6337 is_a: DOID:10314 ! endocarditis is_a: DOID:104 ! bacterial infectious disease is_a: DOID:1564 ! fungal infectious disease [Term] id: DOID:0060001 name: withdrawal disorder def: "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol." [url:http\://en.wikipedia.org/wiki/Withdrawal] is_a: DOID:303 ! substance-related disorder [Term] id: DOID:0060002 name: C1 inhibitor deficiency def: "A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue." [url:http\://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease] {comment="ls:IEDB"} synonym: "Quincke edema" EXACT [] is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060004 name: autoimmune disease of central nervous system def: "An autoimmune hypersensitivity disease located_in the central nervous system." [url:https\://www.ncbi.nlm.nih.gov/books/NBK459447/] {comment="ls:IEDB"} is_a: DOID:331 ! central nervous system disease is_a: DOID:438 ! autoimmune disease of the nervous system [Term] id: DOID:0060005 name: autoimmune disease of endocrine system def: "An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system." [url:https\://www.ncbi.nlm.nih.gov/books/NBK459447/] {comment="ls:IEDB"} is_a: DOID:28 ! endocrine system disease is_a: DOID:417 ! autoimmune disease [Term] id: DOID:0060006 name: obsolete artemis deficiency def: "A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA." [url:http\://en.wikipedia.org/wiki/DCLRE1C] is_obsolete: true [Term] id: DOID:0060007 name: CD3zeta deficiency def: "A severe combined immunodeficiency that affects the development and function of T cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16264327] is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060008 name: janus kinase-3 deficiency def: "A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells." [url:https\://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficiency#inheritance] xref: MIM:600802 is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060009 name: MHC class I deficiency def: "A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy." [url:https\://en.wikipedia.org/wiki/Bare_lymphocyte_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/25001848] comment: OMIM mapping confirmed by DO. [SN]. synonym: "bare lymphocyte syndrome type I" EXACT [] synonym: "BLS, TYPE I" EXACT [] synonym: "BLSI" EXACT OMO:0003012 [] synonym: "HLA CLASS I DEFICIENCY" EXACT [] xref: MIM:604571 is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060010 name: Omenn syndrome def: "A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly." [url:https\://en.wikipedia.org/wiki/Omenn_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/11213808, url:https\://www.ncbi.nlm.nih.gov/pubmed/14328107] subset: DO_rare_slim synonym: "combined immunodeficiency with hypereosinophilia" EXACT [] xref: GARD:8198 xref: ICD10CM:D81.8 xref: MIM:603554 is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060011 name: recombinase activating gene 1 deficiency def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." [url:http\://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html] is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060012 name: recombinase activating gene 2 deficiency def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." [url:http\://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html] is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060013 name: X-linked severe combined immunodeficiency alt_id: DOID:5811 def: "A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells." [url:http\://en.wikipedia.org/wiki/Severe_combined_immunodeficiency, url:https\://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency#synonyms] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "gamma chain deficiency" EXACT [] synonym: "SCID-X1" EXACT OMO:0003012 [] synonym: "thymic epithelial hypoplasia" EXACT [] synonym: "XSCID" EXACT OMO:0003012 [] xref: GARD:5618 xref: MESH:D053632 xref: MIM:300400 xref: NCI:C4682 xref: SNOMEDCT_US_2023_03_01:203592006 xref: UMLS_CUI:C1279481 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060014 name: CD45 deficiency def: "A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29366662] is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060015 name: obsolete interleukin-7 receptor alpha deficiency def: "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15661025] comment: Duplicate term. Use 'term replaced by' instead. [JAB] synonym: "IL-7R" EXACT [] is_obsolete: true replaced_by: DOID:0090014 [Term] id: DOID:0060016 name: CD3delta deficiency def: "A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15640687] synonym: "CD3D" EXACT OMO:0003012 [] is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060017 name: CD3epsilon deficiency def: "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16264327] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060018 name: CD3gamma deficiency def: "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16264327] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060019 name: coronin-1A deficiency def: "A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs." [url:http\://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed] xref: MIM:615401 is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060020 name: reticular dysgenesis alt_id: DOID:1226 def: "A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions." [url:http\://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum, url:http\://www.ncbi.nlm.nih.gov/gene/204?] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "aleukocytosis" RELATED [] synonym: "De Vaal disease" EXACT [] xref: GARD:8625 xref: MESH:C538361 xref: MIM:267500 xref: NCI:C27070 xref: SNOMEDCT_US_2023_03_01:111584000 xref: UMLS_CUI:C0272167 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060021 name: DNA ligase IV deficiency def: "A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay." [url:http\://omim.org/entry/606593, url:http\://www.ncbi.nlm.nih.gov/gene/3981] comment: OMIM mapping confirmed by DO. [SN]. synonym: "LIG4 Syndrome" EXACT [] xref: MIM:606593 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0060022 name: CD40 ligand deficiency def: "A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30681380] synonym: "HIGMX-1" EXACT OMO:0003012 [] synonym: "X-linked hyper-IgM syndrome" EXACT [] xref: MIM:308230 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0060023 name: immunodeficiency with hyper IgM type 3 def: "A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11675497] subset: DO_rare_slim subset: NCIthesaurus synonym: "CD40 deficiency" EXACT [] synonym: "HIGM3" EXACT OMO:0003012 [] synonym: "hyper-IgM syndrome due to CD40 deficiency" EXACT [] synonym: "type 3 hyper-IgM immunodeficiency" EXACT [] xref: GARD:10579 xref: MIM:606843 xref: NCI:C176416 xref: ORDO:101090 xref: UMLS_CUI:C1720957 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080544 ! hyper IgM syndrome property_value: exactMatch "GARD:10579" xsd:string property_value: exactMatch "MIM:606843" xsd:string property_value: exactMatch "NCI:C176416" xsd:string property_value: exactMatch "ORDO:101090" xsd:string property_value: exactMatch "UMLS_CUI:C1720957" xsd:string [Term] id: DOID:0060024 name: lambda 5 deficiency def: "A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage." [url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770, url:http\://www.ncbi.nlm.nih.gov/gene/3543?] is_a: DOID:0050177 ! monogenic disease is_a: DOID:2115 ! B cell deficiency [Term] id: DOID:0060025 name: immunoglobulin alpha deficiency def: "A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor." [url:http\://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205, url:http\://www.ncbi.nlm.nih.gov/gene/973?] comment: Xref MGI. subset: DO_rare_slim synonym: "gamma-A-globulin deficiency" EXACT [] synonym: "IgA deficiency" EXACT [] xref: GARD:10197 xref: MESH:D017098 xref: MIM:137100 xref: MIM:269650 xref: MIM:609529 xref: ORDO:69127 xref: SNOMEDCT_US_2023_03_01:29260007 xref: UMLS_CUI:C0162538 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2115 ! B cell deficiency [Term] id: DOID:0060026 name: immunoglobulin beta deficiency def: "A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance." [url:https\://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency] synonym: "IgB deficiency" RELATED [] is_a: DOID:2115 ! B cell deficiency [Term] id: DOID:0060027 name: agammaglobulinemia 4 def: "An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10583958] synonym: "B cell linker protein deficiency" EXACT [] synonym: "B-cell linker protein deficiency" EXACT [] synonym: "BLNK deficiency" EXACT [] xref: MIM:613502 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0060028 name: Good syndrome def: "A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma." [url:http\://en.wikipedia.org/wiki/Good_syndrome, url:https\://www.ncbi.nlm.nih.gov/articles/PMC3102047/] synonym: "thymoma with hypogammaglobulinemia" EXACT [] is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0060029 name: autoimmune disease of exocrine system def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system." [url:https\://www.ncbi.nlm.nih.gov/books/NBK459447/] {comment="ls:IEDB"} is_a: DOID:417 ! autoimmune disease [Term] id: DOID:0060030 name: autoimmune disease of eyes, ear, nose and throat def: "An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat." [url:https\://www.ncbi.nlm.nih.gov/books/NBK459447/] {comment="ls:IEDB"} is_a: DOID:0050155 ! sensory system disease is_a: DOID:438 ! autoimmune disease of the nervous system [Term] id: DOID:0060031 name: autoimmune disease of gastrointestinal tract def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract." [url:https\://www.ncbi.nlm.nih.gov/books/NBK459447/] {comment="ls:IEDB"} is_a: DOID:417 ! autoimmune disease is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:0060032 name: autoimmune disease of musculoskeletal system def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system." [url:https\://www.ncbi.nlm.nih.gov/books/NBK459447/] {comment="ls:IEDB"} is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:417 ! autoimmune disease [Term] id: DOID:0060033 name: autoimmune disease of peripheral nervous system def: "An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system." [url:https\://www.ncbi.nlm.nih.gov/books/NBK459447/] {comment="ls:IEDB"} is_a: DOID:438 ! autoimmune disease of the nervous system is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:0060034 name: dropped head syndrome def: "A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles." [url:https\://pubmed.ncbi.nlm.nih.gov/23203936/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3621852/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763751] synonym: "floppy head syndrome" EXACT [] is_a: DOID:0060564 ! spinal disease [Term] id: DOID:0060035 name: obsolete medical disorder def: "A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment." [url:http\://en.wikipedia.org/wiki/Diseases#Disorder, url:http\://www.medilexicon.com/medicaldictionary.php?t=25959] is_obsolete: true [Term] id: DOID:0060036 name: intrinsic cardiomyopathy def: "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause." [url:https\://en.wikipedia.org/wiki/Cardiomyopathy] is_a: DOID:0050700 ! cardiomyopathy [Term] id: DOID:0060037 name: developmental disorder of mental health def: "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development." [url:http\://en.wikipedia.org/wiki/Developmental_disorders] subset: DO_RAD_slim is_a: DOID:150 ! disease of mental health [Term] id: DOID:0060038 name: specific developmental disorder def: "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination." [url:http\://en.wikipedia.org/wiki/Specific_developmental_disorder] is_a: DOID:0060037 ! developmental disorder of mental health [Term] id: DOID:0060039 name: autoimmune disease of skin and connective tissue def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue." [url:https\://www.ncbi.nlm.nih.gov/books/NBK459447/] {comment="ls:IEDB"} is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:37 ! skin disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:0060040 name: pervasive developmental disorder alt_id: DOID:1208 def: "A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors." [url:https\://www.ninds.nih.gov/health-information/disorders/pervasive-developmental-disorders] synonym: "Pervasive Child Development Disorders" EXACT [] synonym: "pervasive development disorder" EXACT [] xref: ICD9CM:299.80 xref: UMLS_CUI:C0154451 is_a: DOID:0060037 ! developmental disorder of mental health [Term] id: DOID:0060041 name: autism spectrum disorder def: "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior." [url:http\://en.wikipedia.org/wiki/Autism_spectrum_disorder, url:http\://www.neurodevnet.ca, url:https\://www.genome.gov/Genetic-Disorders/Autism] subset: DO_FlyBase_slim subset: DO_rare_slim xref: GARD:10248 xref: MESH:D000067877 is_a: DOID:0060040 ! pervasive developmental disorder [Term] id: DOID:0060042 name: atypical autism def: "An autism spectrum disorder that involves some autistic symptoms occurring after age 3 with an absence of all the traits necessary for a diagnosis of autism." [url:http\://counsellingresource.com/distress/autistic/autism-atypical.html, url:https\://kidsbrainhealth.ca, url:https\://www.thehealthboard.com/what-is-atypical-autism.htm] synonym: "PDD" EXACT OMO:0003012 [] is_a: DOID:0060041 ! autism spectrum disorder [Term] id: DOID:0060043 name: sexual health disorder def: "A disease of mental health that involves the impairment in normal sexual functioning." [url:https\://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction] is_a: DOID:150 ! disease of mental health [Term] id: DOID:0060044 name: paraphilia disorder def: "A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects." [url:https\://en.wikipedia.org/wiki/Paraphilia] is_a: DOID:0060043 ! sexual health disorder [Term] id: DOID:0060045 name: Munchausen by proxy def: "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others." [url:http\://en.wikipedia.org/wiki/Munchausen_by_proxy] is_a: DOID:1766 ! factitious disorder [Term] id: DOID:0060046 name: aphasia def: "A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language." [url:http\://en.wikipedia.org/wiki/Aphasia] xref: MESH:D001037 is_a: DOID:93 ! language disorder property_value: exactMatch "MESH:D001037" xsd:string [Term] id: DOID:0060047 name: writing disorder def: "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition." [url:http\://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities] is_a: DOID:8927 ! learning disability [Term] id: DOID:0060048 name: nosophobia def: "A specific phobia that involves an irrational fear of contracting a disease." [url:http\://en.wikipedia.org/wiki/Nosophobia] is_a: DOID:599 ! specific phobia [Term] id: DOID:0060049 name: autoimmune disease of urogenital tract def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract." [url:https\://www.ncbi.nlm.nih.gov/books/NBK459447/] {comment="ls:IEDB"} is_a: DOID:417 ! autoimmune disease [Term] id: DOID:0060050 name: autoimmune disease of blood def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood." [url:https\://www.ncbi.nlm.nih.gov/books/NBK459447/] {comment="ls:IEDB"} subset: DO_FlyBase_slim is_a: DOID:417 ! autoimmune disease [Term] id: DOID:0060051 name: autoimmune disease of cardiovascular system def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system." [url:https\://www.ncbi.nlm.nih.gov/books/NBK459447/] {comment="ls:IEDB"} is_a: DOID:1287 ! cardiovascular system disease is_a: DOID:417 ! autoimmune disease [Term] id: DOID:0060052 name: obsolete neurological disorder def: "A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness." [ls:IEDB] is_obsolete: true [Term] id: DOID:0060053 name: obsolete peripheral neuropathy def: "A neuropathy that is located_in nerves of the peripheral nervous system." [url:http\://en.wikipedia.org/wiki/Sensory_neuropathy] is_obsolete: true [Term] id: DOID:0060054 name: autonomic peripheral neuropathy def: "A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence." [url:https\://en.wikipedia.org/wiki/Autonomic_neuropathy] is_a: DOID:870 ! neuropathy [Term] id: DOID:0060055 name: popliteal pterygium syndrome def: "A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1." [url:http\://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome, url:https\://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/2352260, url:https\://www.ncbi.nlm.nih.gov/pubmed/4384166] comment: NT MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "facio-genito-popliteal syndrome" EXACT [] synonym: "popliteal web syndrome" EXACT [] xref: GARD:3242 xref: MESH:C562509 xref: MIM:119500 xref: MIM:263650 xref: NCI:C118786 xref: ORDO:1300 xref: ORDO:294963 xref: SNOMEDCT_US_2023_03_01:205820002 xref: UMLS_CUI:C0265259 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-02-04T14:16:39Z [Term] id: DOID:0060056 name: hypersensitivity reaction disease def: "An immune system disease that has_material_basis_in abnormal immune responses." [url:http\://en.wikipedia.org/wiki/Hypersensitivity, url:http\://www.ncbi.nlm.nih.gov/books/NBK27136/] is_a: DOID:2914 ! immune system disease [Term] id: DOID:0060057 name: gluten allergy def: "A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance." [url:https\://acaai.org/allergies/types/food-allergies/types-food-allergy/wheat-gluten-allergy] subset: DO_IEDB_slim synonym: "allergy to gluten" EXACT [] synonym: "gluten allergic reaction" EXACT [] is_a: DOID:3044 ! food allergy [Term] id: DOID:0060058 name: lymphoma alt_id: DOID:1033 alt_id: DOID:353 def: "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs." [url:http\://en.wikipedia.org/wiki/Lymphoma, url:http\://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161, url:http\://www.nlm.nih.gov/medlineplus/lymphoma.html] subset: DO_cancer_slim subset: DO_RAD_slim subset: NCIthesaurus synonym: "lymphoid cancer" EXACT [] xref: ICD10CM:C85.9 xref: ICDO:9590/3 xref: MESH:D008223 xref: NCI:C3208 xref: NCI:C7065 xref: SNOMEDCT_US_2023_03_01:118600007 xref: SNOMEDCT_US_2023_03_01:414628006 xref: UMLS_CUI:C0024299 xref: UMLS_CUI:C0598798 is_a: DOID:0060073 ! lymphatic system cancer is_a: DOID:2531 ! hematologic cancer [Term] id: DOID:0060060 name: non-Hodgkin lymphoma def: "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma." [url:http\://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=45148] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: ICD10CM:C85.9 xref: ICDO:9591/3 xref: MESH:D008228 xref: MIM:605027 xref: NCI:C3211 xref: ORDO:547 xref: SNOMEDCT_US_2023_03_01:118601006 xref: UMLS_CUI:C0024305 is_a: DOID:0060058 ! lymphoma [Term] id: DOID:0060061 name: primary cutaneous T-cell non-Hodgkin lymphoma def: "A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells." [url:http\://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma] subset: DO_rare_slim subset: NCIthesaurus synonym: "cutaneous T cell lymphoma" EXACT [] synonym: "cutaneous T-cell lymphoma" EXACT [] xref: GARD:6226 xref: MESH:D016410 xref: NCI:C3467 is_a: DOID:0050749 ! peripheral T-cell lymphoma [Term] id: DOID:0060062 name: familial juvenile hyperuricemic nephropathy def: "A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21060763] comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim xref: MIM:162000 xref: MIM:613092 xref: MIM:614227 xref: ORDO:209886 xref: ORDO:217330 is_a: DOID:557 ! kidney disease [Term] id: DOID:0060063 name: sideroblastic anemia 1 def: "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production." [url:https\://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim synonym: "sideroblastic anaemia 1" EXACT [] synonym: "X-linked sideroblastic anaemia" EXACT [] synonym: "X-linked sideroblastic anemia" EXACT [] synonym: "XLSA" EXACT OMO:0003012 [] xref: GARD:9456 xref: MIM:300751 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0060064 name: obsolete sideroblastic anemia with spinocerebellar ataxia def: "A sideoblastic anemia that is characterized by microcytic hypochromic anemia and ealy-onset, slowly progressive spinocerebellar ataxia, and has_material_basis_in X-linked inheritance of mutation in the ABCB7 gene that encodes a transporter protein that plays a role in heme production in the bone marrow and cerebellum." [url:https\://rarediseases.info.nih.gov/diseases/668/anemia-sideroblastic-and-spinocerebellar-ataxia] comment: OMIM mapping confirmed by DO. [LS]. synonym: "ASAT" EXACT [] is_obsolete: true [Term] id: DOID:0060065 name: autosomal recessive pyridoxine-refractory sideroblastic anemia 2 def: "A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene." [url:https\://rarediseases.info.nih.gov/diseases/8249/sideroblastic-anemia-pyridoxine-refractory-autosomal-recessive] comment: OMIM mapping confirmed by DO. [LS]. synonym: "autosomal recessive pyridoxine-refractory sideroblastic anaemia 2" EXACT [] synonym: "pyridoxine-refractory autosomal recessive sideroblastic anaemia" EXACT [] synonym: "pyridoxine-refractory autosomal recessive sideroblastic anemia" EXACT [] xref: MIM:205950 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0060066 name: pyridoxine-responsive sideroblastic anemia def: "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance." [url:https\://rarediseases.info.nih.gov/diseases/9872/sideroblastic-anemia-pyridoxine-responsive-autosomal-recessive] comment: OMIM mapping confirmed by DO. [LS]. xref: MIM:206000 is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0060067 name: Pearson syndrome def: "A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction." [url:http\://en.wikipedia.org/wiki/Pearson_syndrome] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim synonym: "Pearson Marrow-Pancreas Syndrome" EXACT [] xref: GARD:7343 xref: MIM:557000 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0060068 name: nonbacterial thrombotic endocarditis def: "An endocarditis that results from the deposition of small sterile vegetations on valve leaflets." [url:http\://en.wikipedia.org/wiki/Marantic_endocarditis] synonym: "marantic endocarditis" EXACT [] synonym: "non-bacterial thrombotic endocarditis" EXACT [] xref: MESH:D059905 is_a: DOID:10314 ! endocarditis created_by: lschriml creation_date: 2011-04-13T03:14:26Z [Term] id: DOID:0060069 name: obsolete Bacillus cereus pneumonia is_obsolete: true created_by: lschriml creation_date: 2011-04-15T11:41:26Z [Term] id: DOID:0060071 name: pre-malignant neoplasm def: "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer." [url:http\://en.wikipedia.org/wiki/Neoplasm] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim subset: DO_RAD_slim is_a: DOID:14566 ! disease of cellular proliferation created_by: lschriml creation_date: 2011-05-11T12:18:41Z [Term] id: DOID:0060072 name: benign neoplasm def: "A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize." [url:http\://en.wikipedia.org/wiki/Benign_neoplasm, url:http\://www.nlm.nih.gov/medlineplus/benigntumors.html] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim subset: DO_RAD_slim is_a: DOID:14566 ! disease of cellular proliferation disjoint_from: DOID:162 ! cancer created_by: lschriml creation_date: 2011-05-11T12:18:41Z [Term] id: DOID:0060073 name: lymphatic system cancer def: "An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue." [url:http\://en.wikipedia.org/wiki/Lymphatic_system] is_a: DOID:0060083 ! immune system cancer is_a: DOID:75 ! lymphatic system disease created_by: lschriml creation_date: 2011-05-11T01:05:14Z [Term] id: DOID:0060074 name: ductal carcinoma in situ def: "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells." [url:https\://www.breastcancer.org/symptoms/types/dcis, url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=ductal+carcinoma] is_a: DOID:8791 ! breast carcinoma in situ created_by: lschriml creation_date: 2011-06-08T12:19:28Z [Term] id: DOID:0060075 name: estrogen-receptor positive breast cancer def: "A breast cancer that is characterized by the presence of estrogen receptors." [url:https\://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/25471040] subset: DO_cancer_slim is_a: DOID:1612 ! breast cancer created_by: lschriml creation_date: 2011-06-08T12:23:02Z [Term] id: DOID:0060076 name: estrogen-receptor negative breast cancer def: "A breast cancer that is characterized by the absence of estrogen receptors." [url:https\://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/25471040] subset: DO_cancer_slim is_a: DOID:1612 ! breast cancer created_by: lschriml creation_date: 2011-06-08T12:23:02Z [Term] id: DOID:0060077 name: progesterone-receptor positive breast cancer def: "A breast cancer that is characterized by the presence of progesterone receptors." [url:https\://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/25471040] is_a: DOID:1612 ! breast cancer created_by: lschriml creation_date: 2011-06-08T12:23:02Z [Term] id: DOID:0060078 name: progesterone-receptor negative breast cancer def: "A breast cancer that is characterized by the absence of progesterone receptors." [url:https\://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/25471040] is_a: DOID:1612 ! breast cancer created_by: lschriml creation_date: 2011-06-08T12:23:02Z [Term] id: DOID:0060079 name: Her2-receptor positive breast cancer def: "A breast cancer that is characterized by the presence of Her2 receptors." [url:https\://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html, url:https\://www.sciencedirect.com/science/article/pii/S1470204511703369] subset: DO_cancer_slim is_a: DOID:1612 ! breast cancer created_by: lschriml creation_date: 2011-06-08T12:23:02Z [Term] id: DOID:0060080 name: Her2-receptor negative breast cancer def: "A breast cancer that is characterized by the absence of Her2 receptors." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25682076] subset: DO_cancer_slim is_a: DOID:1612 ! breast cancer created_by: lschriml creation_date: 2011-06-08T12:23:02Z [Term] id: DOID:0060081 name: triple-receptor negative breast cancer def: "A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22826413] subset: DO_cancer_slim is_a: DOID:1612 ! breast cancer created_by: lschriml creation_date: 2011-06-08T12:23:02Z [Term] id: DOID:0060082 name: breast benign neoplasm def: "A thoracic benign neoplasm that is characterized by lack of malignancy." [url:https\://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions.html] is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:3463 ! breast disease created_by: lschriml creation_date: 2011-06-08T01:02:29Z [Term] id: DOID:0060083 name: immune system cancer def: "An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system." [url:http\://en.wikipedia.org/wiki/Immune_system] subset: DO_cancer_slim xref: ICDO:9392/3 is_a: DOID:0050686 ! organ system cancer is_a: DOID:2914 ! immune system disease created_by: lschriml creation_date: 2011-06-08T01:11:18Z [Term] id: DOID:0060084 name: cell type benign neoplasm def: "A benign neoplasm that is classified by the type of cell or tissue from which it is derived." [url:http\://en.wikipedia.org/wiki/Benign_tumor] is_a: DOID:0060072 ! benign neoplasm created_by: lschriml creation_date: 2011-07-14T11:59:48Z [Term] id: DOID:0060085 name: organ system benign neoplasm def: "A benign neoplasm that is classified by the organ system from which it is arising from." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3677] subset: DO_FlyBase_slim subset: NCIthesaurus xref: NCI:C3677 is_a: DOID:0060072 ! benign neoplasm created_by: lschriml creation_date: 2011-07-14T12:12:23Z [Term] id: DOID:0060086 name: female reproductive organ benign neoplasm def: "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system." [url:https\://www.ncbi.nlm.nih.gov/books/NBK9559/] is_a: DOID:0050622 ! reproductive organ benign neoplasm is_a: DOID:229 ! female reproductive system disease created_by: lschriml creation_date: 2011-07-14T12:20:52Z [Term] id: DOID:0060087 name: male reproductive organ benign neoplasm def: "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system." [url:https\://www.ncbi.nlm.nih.gov/books/NBK9556/] is_a: DOID:0050622 ! reproductive organ benign neoplasm is_a: DOID:48 ! male reproductive system disease created_by: lschriml creation_date: 2011-07-14T12:20:52Z [Term] id: DOID:0060088 name: vestibular gland benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the vestibular gland." [url:https\://en.wikipedia.org/wiki/Bartholin%27s_gland, url:https\://link.springer.com/chapter/10.1007/978-3-642-74828-8_4] is_a: DOID:0060086 ! female reproductive organ benign neoplasm created_by: lschriml creation_date: 2011-07-14T12:36:54Z [Term] id: DOID:0060089 name: endocrine organ benign neoplasm def: "An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body." [url:http\://en.wikipedia.org/wiki/Endocrine_system] is_a: DOID:0060085 ! organ system benign neoplasm created_by: lschriml creation_date: 2011-07-14T01:45:15Z [Term] id: DOID:0060090 name: central nervous system benign neoplasm def: "A nervous system benign neoplasm that is characterized by lack of malignancy." [url:https\://www.cancer.gov/types/brain/patient/adult-brain-treatment-pdq] is_a: DOID:0060115 ! nervous system benign neoplasm is_a: DOID:331 ! central nervous system disease created_by: lschriml creation_date: 2011-07-14T01:45:15Z [Term] id: DOID:0060091 name: cardiovascular organ benign neoplasm def: "An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system." [url:http\://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:1287 ! cardiovascular system disease created_by: lschriml creation_date: 2011-07-14T01:45:15Z [Term] id: DOID:0060092 name: immune system organ benign neoplasm def: "An organ system benign neoplasm located_in the immune system organs." [url:http\://en.wikipedia.org/wiki/Immune_system] is_a: DOID:0060085 ! organ system benign neoplasm created_by: lschriml creation_date: 2011-07-14T01:58:49Z [Term] id: DOID:0060094 name: bone benign neoplasm def: "A connective tissue benign neoplasm that is located_in bone." [url:http\://en.wikipedia.org/wiki/Bone_tumor] is_a: DOID:0060123 ! connective tissue benign neoplasm is_a: DOID:0080001 ! bone disease created_by: lschriml creation_date: 2011-07-15T01:34:59Z [Term] id: DOID:0060095 name: uterine benign neoplasm alt_id: DOID:0060113 def: "A female reproductive organ benign neoplasm that is located_in the uterus." [url:https\://en.wikipedia.org/wiki/Uterine_fibroid, url:https\://www.ncbi.nlm.nih.gov/books/NBK9559/] is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:345 ! uterine disease created_by: lschriml creation_date: 2011-07-15T01:42:11Z [Term] id: DOID:0060096 name: sensory organ benign neoplasm def: "A nervous system benign neoplasm that is located_in a sensory organ." [url:http\://en.wikipedia.org/wiki/Sensory_system] is_a: DOID:0050155 ! sensory system disease is_a: DOID:0060115 ! nervous system benign neoplasm created_by: lschriml creation_date: 2011-07-15T01:45:26Z [Term] id: DOID:0060097 name: thoracic benign neoplasm def: "An organ system benign neoplam that is located_in the thoracic cavity." [url:http\://en.wikipedia.org/wiki/Thoracic_cavity] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:0060118 ! thoracic disease created_by: lschriml creation_date: 2011-07-15T01:55:57Z [Term] id: DOID:0060098 name: osteoblastoma def: "A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas." [url:https\://en.wikipedia.org/wiki/Osteoblastoma] subset: DO_cancer_slim xref: ICDO:9200/0 xref: MESH:D018215 is_a: DOID:0060094 ! bone benign neoplasm created_by: lschriml creation_date: 2011-07-15T02:14:40Z [Term] id: DOID:0060099 name: musculoskeletal system benign neoplasm def: "An organ system benign neoplasm that is located_in the muscular and skeletal organs." [url:http\://en.wikipedia.org/wiki/Musculoskeletal_system] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:17 ! musculoskeletal system disease created_by: lschriml creation_date: 2011-07-15T02:28:52Z [Term] id: DOID:0060100 name: musculoskeletal system cancer alt_id: DOID:0060124 def: "An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs." [url:http\://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders] synonym: "skeletal system cancer" EXACT [] is_a: DOID:0050686 ! organ system cancer is_a: DOID:17 ! musculoskeletal system disease created_by: lschriml creation_date: 2011-07-15T02:30:51Z [Term] id: DOID:0060101 name: obsolete benign glioma def: "A cell type benign neoplasm that has_material_basis_in glial cells." [url:http\://www.cancer.gov/dictionary?CdrID=45700] is_obsolete: true created_by: lschriml creation_date: 2011-07-19T01:27:04Z [Term] id: DOID:0060102 name: cartilage cancer def: "A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma." [url:https\://en.wikipedia.org/wiki/Cartilage_tumor] is_a: DOID:1222 ! cartilage disease is_a: DOID:201 ! connective tissue cancer created_by: lschriml creation_date: 2011-07-20T01:40:49Z [Term] id: DOID:0060103 name: central nervous system embryonal tumor def: "A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm." [url:http\://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151465, url:https\://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor] subset: DO_cancer_slim subset: NCIthesaurus synonym: "central nervous system primitive neuroectodermal neoplasm" EXACT [] synonym: "CNS embryonal tumour, NEC/NOS" EXACT [] xref: ICDO:9473/3 xref: NCI:C5398 is_a: DOID:368 ! cerebrum cancer created_by: lschriml creation_date: 2011-07-21T02:24:10Z [Term] id: DOID:0060104 name: cerebellar medulloblastoma def: "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull." [url:http\://en.wikipedia.org/wiki/Medulloblastoma] subset: DO_cancer_slim is_a: DOID:4205 ! cerebellum cancer created_by: lschriml creation_date: 2011-07-21T02:28:01Z [Term] id: DOID:0060106 name: brain meningioma def: "A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin." [url:https\://en.wikipedia.org/wiki/Meningioma] is_a: DOID:1319 ! brain cancer is_a: DOID:3565 ! meningioma created_by: lschriml creation_date: 2011-07-21T05:39:28Z [Term] id: DOID:0060108 name: brain glioma def: "A brain cancer that has_material_basis_in glial cells." [url:http\://cancergenome.nih.gov/cancersselected/lowergradeglioma, url:http\://www.cancer.gov/dictionary?CdrID=45700] subset: DO_cancer_slim subset: DO_FlyBase_slim synonym: "lower grade glioma" EXACT [] is_a: DOID:1319 ! brain cancer created_by: lschriml creation_date: 2011-07-22T12:42:50Z [Term] id: DOID:0060109 name: vulvar benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the vulva." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25220103] is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:2059 ! vulvar disease created_by: lschriml creation_date: 2011-07-25T11:50:50Z [Term] id: DOID:0060110 name: cervical benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the cervix." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8400047] is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:2253 ! cervix disease created_by: lschriml creation_date: 2011-07-25T11:50:50Z [Term] id: DOID:0060111 name: fallopian tube benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the fallopian tube." [url:http\://www.glowm.com/section_view/item/8] is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:1962 ! fallopian tube disease created_by: lschriml creation_date: 2011-07-25T11:50:50Z [Term] id: DOID:0060112 name: ovarian benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the ovary." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24992780] is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:1100 ! ovarian disease created_by: lschriml creation_date: 2011-07-25T11:50:50Z [Term] id: DOID:0060114 name: vaginal benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the vagina." [url:https\://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5] is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:121 ! vaginal disease created_by: lschriml creation_date: 2011-07-25T11:50:50Z [Term] id: DOID:0060115 name: nervous system benign neoplasm def: "An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system." [url:http\://en.wikipedia.org/wiki/Nervous_system] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:863 ! nervous system disease created_by: lschriml creation_date: 2011-07-25T12:47:43Z [Term] id: DOID:0060116 name: sensory system cancer def: "A nervous system cancer that is located in the sensory system." [url:http\://en.wikipedia.org/wiki/Sensory_system] is_a: DOID:0050155 ! sensory system disease is_a: DOID:3093 ! nervous system cancer created_by: lschriml creation_date: 2011-07-25T01:51:56Z [Term] id: DOID:0060117 name: peritoneal benign neoplasm def: "A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom." [url:http\://en.wikipedia.org/wiki/Peritoneal] is_a: DOID:0060097 ! thoracic benign neoplasm created_by: lschriml creation_date: 2011-07-25T02:20:33Z [Term] id: DOID:0060118 name: thoracic disease def: "A disease of anatomical entity that is located_in the thoracic cavity." [url:http\://en.wikipedia.org/wiki/Thoracic_cavity] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim is_a: DOID:7 ! disease of anatomical entity created_by: lschriml creation_date: 2011-07-25T02:23:47Z [Term] id: DOID:0060119 name: pharynx cancer def: "A gastrointestinal system cancer that is located_in the pharynx." [url:http\://en.wikipedia.org/wiki/Pharynx] subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "pharyngeal cancer" RELATED [] synonym: "pharyngeal neoplasm" EXACT [] synonym: "pharynx neoplasm" EXACT [] xref: MESH:D010610 xref: NCI:C3325 xref: SNOMEDCT_US_2023_03_01:126685009 xref: UMLS_CUI:C0031347 is_a: DOID:3119 ! gastrointestinal system cancer created_by: lschriml creation_date: 2011-07-27T01:26:34Z [Term] id: DOID:0060120 name: obsolete skeletal system benign neoplasm is_obsolete: true created_by: lschriml creation_date: 2011-07-27T01:46:00Z [Term] id: DOID:0060121 name: integumentary system benign neoplasm def: "An organ system benign neoplasm located_in the integumentary system organs." [url:http\://en.wikipedia.org/wiki/Integumentary_system] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:16 ! integumentary system disease created_by: lschriml creation_date: 2011-07-27T01:49:44Z [Term] id: DOID:0060122 name: integumentary system cancer def: "An organ system cancer that is located_in the skin, hair and nails." [url:http\://en.wikipedia.org/wiki/Integumentary_system] is_a: DOID:0050686 ! organ system cancer is_a: DOID:16 ! integumentary system disease created_by: lschriml creation_date: 2011-07-27T02:31:34Z [Term] id: DOID:0060123 name: connective tissue benign neoplasm alt_id: DOID:177 def: "A musculoskeletal system benign neoplasm that is located_in connective tissue." [url:http\://en.wikipedia.org/wiki/Connective_tissue_neoplasm] subset: NCIthesaurus synonym: "mesenchymal tissue neoplasm" EXACT [] synonym: "neoplasm of soft tissue" EXACT [] synonym: "neoplasm of soft tissues" EXACT [] synonym: "soft tissue benign neoplasm" EXACT [] synonym: "tumor of the soft tissue" EXACT [] xref: MESH:D012983 xref: NCI:C3377 xref: SNOMEDCT_US_2023_03_01:126600002 xref: UMLS_CUI:C0037579 is_a: DOID:0060099 ! musculoskeletal system benign neoplasm is_a: DOID:65 ! connective tissue disease created_by: lschriml creation_date: 2011-07-27T02:35:57Z [Term] id: DOID:0060125 name: heavy chain disease def: "A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains." [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease] subset: NCIthesaurus xref: ICD10CM:C88.2 xref: ICDO:9762/3 xref: MESH:D006362 xref: NCI:C3082 xref: NCI:C3083 xref: NCI:C3892 xref: SNOMEDCT_US_2023_03_01:61493004 xref: SNOMEDCT_US_2023_03_01:6381009 xref: SNOMEDCT_US_2023_03_01:68979007 xref: UMLS_CUI:C0018852 xref: UMLS_CUI:C0018854 xref: UMLS_CUI:C0242310 is_a: DOID:2916 ! hypersensitivity reaction type IV disease property_value: exactMatch "MESH:D006362" xsd:string created_by: lschriml creation_date: 2011-08-22T11:23:09Z [Term] id: DOID:0060126 name: alpha chain disease def: "A heavy chain disease that results from an overproduction of alpha antibodies (IgA)." [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease] synonym: "Seligmann's disease" EXACT [] is_a: DOID:0060125 ! heavy chain disease created_by: lschriml creation_date: 2011-08-22T11:23:09Z [Term] id: DOID:0060127 name: gamma heavy chain disease def: "A heavy chain disease that results from an overproduction of gamma antibody (IgG)." [url:http\://rarediseases.info.nih.gov/GARD/Condition/10346/Gamma_heavy_chain_disease.aspx] subset: DO_rare_slim synonym: "Franklin's disease" EXACT [] xref: GARD:10346 is_a: DOID:0060125 ! heavy chain disease created_by: lschriml creation_date: 2011-08-22T11:23:09Z [Term] id: DOID:0060128 name: mu chain disease def: "A heavy chain disease that results from an overproduction of mu antibody (IgM)." [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease] is_a: DOID:0060125 ! heavy chain disease created_by: lschriml creation_date: 2011-08-22T11:23:09Z [Term] id: DOID:0060129 name: delta chain disease def: "A heavy chain disease that results from an overproduction of delta antibody (IgD)." [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease] is_a: DOID:0060125 ! heavy chain disease created_by: lschriml creation_date: 2011-08-22T11:23:09Z [Term] id: DOID:0060130 name: akinetopsia def: "An agnosia that is a loss of motion perception." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060131 name: alexithymia def: "An agnosia that is a deficiency in understanding, processing, or describing emotions." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060132 name: amusia def: "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals." [url:http\://en.wikipedia.org/wiki/Agnosia] synonym: "receptive amusia" EXACT [] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060133 name: anosognosia def: "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060134 name: apperceptive agnosia def: "An agnosia that is a loss of the ability to distinguish visual shapes." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060135 name: apraxia def: "An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities." [url:http\://en.wikipedia.org/wiki/Agnosia] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5838 xref: ICD10CM:R48.2 xref: MESH:D001072 xref: NCI:C180557 xref: SNOMEDCT_US_2023_03_01:271724003 xref: UMLS_CUI:C0003635 is_a: DOID:4090 ! agnosia property_value: exactMatch "MESH:D001072" xsd:string created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060136 name: associative agnosia def: "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060137 name: auditory agnosia def: "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060138 name: autotopagnosia def: "An agnosia that is a loss of the ability to orient parts of the body." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060139 name: color agnosia def: "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060140 name: cortical deafness def: "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060141 name: finger agnosia def: "An agnosia that is a loss of the ability to distinguish the fingers on the hand." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060142 name: form agnosia def: "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060143 name: integrative agnosia def: "An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060144 name: mirror agnosia def: "An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060145 name: pain agnosia def: "An agnosia that is a loss of the ability to perceive and process pain." [url:http\://en.wikipedia.org/wiki/Agnosia] synonym: "analgesia" EXACT [] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060146 name: phonagnosia def: "An agnosia that is a loss of the ability to recognize familiar voices." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060147 name: semantic agnosia def: "An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060148 name: simultanagnosia def: "An agnosia that is a loss of the ability to recognize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time." [url:http\://en.wikipedia.org/wiki/Agnosia] subset: DO_rare_slim xref: GARD:11943 is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060149 name: social emotional agnosia def: "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction." [url:http\://en.wikipedia.org/wiki/Agnosia] synonym: "expressive agnosia" EXACT [] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060150 name: astereognosia def: "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight." [url:http\://en.wikipedia.org/wiki/Agnosia] synonym: "somatosensory agnosia" EXACT [] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060151 name: tactile agnosia def: "An agnosia that is a loss of the ability to recognize or identify objects by touch alone." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060152 name: time agnosia def: "An agnosia that is a loss of the ability to comprehend the succession and duration of events." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060153 name: topographical agnosia def: "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:0060155 ! visual agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060154 name: verbal auditory agnosia def: "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060155 name: visual agnosia def: "An agnosia that is a loss of the ability to visually recognize objects." [url:http\://en.wikipedia.org/wiki/Agnosia] xref: MESH:C531604 xref: UMLS_CUI:C2930796 is_a: DOID:4090 ! agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060156 name: visual verbal agnosia def: "An agnosia that is a loss of the ability to comprehending the meaning of written words." [url:http\://en.wikipedia.org/wiki/Agnosia] is_a: DOID:0060155 ! visual agnosia created_by: lschriml creation_date: 2011-08-22T12:04:56Z [Term] id: DOID:0060157 name: diffuse alopecia areata def: "An alopecia areata that involves diffuse loss of hair over the whole scalp." [url:http\://en.wikipedia.org/wiki/Alopecia_areata] xref: SNOMEDCT_US_2023_03_01:46586006 xref: UMLS_CUI:C0263479 is_a: DOID:986 ! alopecia areata created_by: lschriml creation_date: 2011-08-22T03:45:02Z [Term] id: DOID:0060158 name: acquired metabolic disease def: "A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption." [url:http\://en.wikipedia.org/wiki/Inborn_error_of_metabolism, url:http\://www.ncbi.nlm.nih.gov/mesh/68008659] subset: DO_MGI_slim is_a: DOID:0014667 ! disease of metabolism created_by: lschriml creation_date: 2011-08-24T02:53:03Z [Term] id: DOID:0060159 name: organic acidemia def: "An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids." [url:http\://en.wikipedia.org/wiki/Aciduria] subset: DO_rare_slim synonym: "organic acid metabolism disorder" EXACT [] synonym: "organic aciduria" EXACT [] xref: GARD:9433 is_a: DOID:9252 ! amino acid metabolic disorder created_by: lschriml creation_date: 2011-08-26T11:17:14Z [Term] id: DOID:0060160 name: childhood spinal muscular atrophy def: "A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene." [url:http\://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy] subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "spinal muscular atrophies of childhood" EXACT [] synonym: "survival motor neuron spinal muscular atrophy" EXACT [] xref: GARD:7674 xref: MESH:D014897 xref: NCI:C85076 xref: ORDO:70 xref: UMLS_CUI:C0700595 is_a: DOID:12377 ! spinal muscular atrophy disjoint_from: DOID:0060161 ! Kennedy's disease created_by: lschriml creation_date: 2011-08-29T01:15:14Z [Term] id: DOID:0060161 name: Kennedy's disease def: "A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor." [url:http\://en.wikipedia.org/wiki/Kennedy_disease] subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Kennedy disease" EXACT [] synonym: "SBMA" EXACT OMO:0003012 [] synonym: "spinal bulbar muscular atrophy" EXACT [] synonym: "Spinobulbar Muscular Atrophy" EXACT [] synonym: "X-Linked Bulbo-Spinal Atrophy" EXACT [] synonym: "X-linked Spinal and Bulbar Muscular Atrophy" EXACT [] xref: GARD:6818 xref: MESH:D055534 xref: MIM:313200 xref: NCI:C85233 xref: SNOMEDCT_US_2023_03_01:230253001 xref: UMLS_CUI:C1839259 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12377 ! spinal muscular atrophy created_by: lschriml creation_date: 2011-08-29T01:31:03Z [Term] id: DOID:0060162 name: dentatorubral-pallidoluysian atrophy def: "An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein." [url:http\://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy] subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "DRPLA" EXACT OMO:0003012 [] synonym: "Haw River Syndrome" EXACT [] synonym: "Naito-Oyanagi disease" EXACT [] xref: GARD:5643 xref: MESH:D020191 xref: MIM:125370 xref: NCI:C122653 xref: SNOMEDCT_US_2023_03_01:702422004 xref: UMLS_CUI:C0751781 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia property_value: exactMatch "MESH:D020191" xsd:string property_value: exactMatch "NCI:C122653" xsd:string property_value: exactMatch "UMLS_CUI:C0751781" xsd:string created_by: lschriml creation_date: 2011-08-29T01:41:48Z [Term] id: DOID:0060163 name: body dysmorphic disorder def: "A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image)." [url:http\://en.wikipedia.org/wiki/Body_dysmorphic_disorder] synonym: "body dysmorphia" EXACT [] synonym: "dysmorphic syndrome" EXACT [] synonym: "dysmorphophobia" EXACT [] is_a: DOID:4737 ! somatoform disorder created_by: lschriml creation_date: 2011-09-07T01:38:34Z [Term] id: DOID:0060164 name: pain disorder def: "A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress." [url:http\://en.wikipedia.org/wiki/Pain_disorder] is_a: DOID:4737 ! somatoform disorder created_by: lschriml creation_date: 2011-09-07T01:42:46Z [Term] id: DOID:0060165 name: Kleine-Levin syndrome def: "A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior." [url:http\://en.wikipedia.org/wiki/Kleine-Levin_syndrome] xref: MESH:D017593 xref: MIM:148840 is_a: DOID:8619 ! recurrent hypersomnia created_by: lschriml creation_date: 2011-09-07T02:46:02Z [Term] id: DOID:0060166 name: bipolar ll disorder def: "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes." [url:http\://en.wikipedia.org/wiki/Bipolar_II] is_a: DOID:3312 ! bipolar disorder created_by: lschriml creation_date: 2011-09-09T02:27:46Z [Term] id: DOID:0060167 name: seasonal affective disorder def: "A mental depression that involves presentation of depressive symptoms only during a specific season of the year." [url:http\://en.wikipedia.org/wiki/Seasonal_affective_disorder] synonym: "winter depression" EXACT [] xref: MESH:D016574 is_a: DOID:1596 ! depressive disorder created_by: lschriml creation_date: 2011-09-09T02:53:18Z [Term] id: DOID:0060168 name: histidinemia def: "A histidine metabolism disease characterized by a deficiency of the enzyme histidase." [url:http\://en.wikipedia.org/wiki/Histidinemia, url:https\://ghr.nlm.nih.gov/condition/histidinemia] subset: DO_rare_slim synonym: "histidinuria" EXACT [] xref: GARD:6661 xref: MESH:C538320 xref: MIM:235800 is_a: DOID:9265 ! histidine metabolism disease created_by: lschriml creation_date: 2011-09-20T12:47:05Z [Term] id: DOID:0060169 name: benign familial infantile epilepsy def: "An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12503648] comment: Xref MGI. subset: DO_rare_slim synonym: "benign familial infantile convulsion" EXACT [] synonym: "benign familial infantile seizures" EXACT [] synonym: "BFIC" EXACT OMO:0003012 [] synonym: "BFIE" EXACT OMO:0003012 [] xref: GARD:1518 xref: GARD:857 xref: MIM:PS601764 xref: ORDO:306 is_a: DOID:0050703 ! infancy electroclinical syndrome created_by: lschriml creation_date: 2011-10-28T02:55:02Z [Term] id: DOID:0060170 name: generalized epilepsy with febrile seizures plus def: "An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22011963] comment: Xref MGI. subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "GEFS+" EXACT OMO:0003012 [] xref: ICD10CM:G40.3 xref: MESH:C565808 xref: ORDO:36387 is_a: DOID:1827 ! idiopathic generalized epilepsy created_by: lschriml creation_date: 2011-10-28T02:57:50Z [Term] id: DOID:0060171 name: obsolete Dravet syndrome is_obsolete: true created_by: lschriml creation_date: 2011-10-28T03:14:46Z [Term] id: DOID:0060172 name: juvenile absence epilepsy def: "An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27986418] comment: JA:Epilepsy Genetics Kiel is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome created_by: lschriml creation_date: 2011-11-08T10:42:18Z [Term] id: DOID:0060173 name: Timothy syndrome def: "A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene." [url:http\://www.ncbi.nlm.nih.gov/books/NBK1403/, url:https\://ghr.nlm.nih.gov/condition/timothy-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15863612] subset: DO_rare_slim synonym: "long QT syndrome with syndactyly" RELATED [] xref: GARD:9294 xref: ICD10CM:G72.3 xref: MESH:C536962 xref: MIM:601005 xref: ORDO:65283 xref: UMLS_CUI:C1832916 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome property_value: broadMatch "UMLS_CUI:C1832916" xsd:string created_by: lschriml creation_date: 2011-11-08T12:52:33Z [Term] id: DOID:0060174 name: GABA aminotransferase deficiency def: "A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde." [url:https\://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#synonyms] synonym: "Gamma-amino butyric acid transaminase deficiency" EXACT [] synonym: "gamma-aminobutyric acid transaminase deficiency" EXACT [] xref: MIM:613163 is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder created_by: lschriml creation_date: 2011-11-08T01:52:22Z [Term] id: DOID:0060175 name: succinic semialdehyde dehydrogenase deficiency def: "A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid." [url:http\://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism] synonym: "4-hydroxybutyric aciduria" EXACT [] synonym: "gamma-hydroxybutyric aciduria" EXACT [] synonym: "SSADH" EXACT OMO:0003012 [] xref: MESH:C535803 xref: MIM:271980 is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder created_by: lschriml creation_date: 2011-11-08T02:02:12Z [Term] id: DOID:0060176 name: gamma-amino butyric acid metabolism disorder def: "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12891648] is_a: DOID:9252 ! amino acid metabolic disorder created_by: lschriml creation_date: 2011-11-08T02:02:12Z [Term] id: DOID:0060177 name: homocarnosinosis def: "A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine." [url:http\://en.wikipedia.org/wiki/Carnosinemia, url:http\://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf] subset: DO_rare_slim xref: GARD:2730 xref: MESH:C535328 is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder is_a: DOID:936 ! brain disease created_by: lschriml creation_date: 2011-11-08T02:02:12Z [Term] id: DOID:0060178 name: familial hemiplegic migraine def: "A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness." [url:http\://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine] comment: Xref MGI. subset: DO_FlyBase_slim subset: DO_rare_slim xref: GARD:10975 xref: ICD10CM:G43.8 xref: ICD9CM:346.8 xref: ORDO:569 xref: SNOMEDCT_US_2023_03_01:193037008 xref: UMLS_CUI:C0477373 is_a: DOID:10024 ! migraine with aura created_by: lschriml creation_date: 2011-11-08T02:54:32Z [Term] id: DOID:0060179 name: Renpenning syndrome def: "An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males." [url:http\://en.wikipedia.org/wiki/Renpenning%27s_syndrome] subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "Golabi-Ito-Hall syndrome" EXACT [] synonym: "Sutherland-Haan X-linked mental retardation syndrome" EXACT [] synonym: "syndromic X-linked mental retardation 8" EXACT [] synonym: "X-linked intellectual disability due to PQBP1 mutations" EXACT [] synonym: "X-linked intellectual disability, Renpenning type" EXACT [] synonym: "X-linked mental retardation Renpenning type" EXACT [] synonym: "X-linked mental retardation with spastic diplegia" EXACT [] xref: ICD10CM:Q87.5 xref: MIM:309500 xref: ORDO:3242 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: lschriml creation_date: 2011-11-08T03:21:30Z [Term] id: DOID:0060180 name: colitis def: "An inflammatory bowel disease that involves inflammation located_in colon." [url:http\://en.wikipedia.org/wiki/Colitis] subset: NCIthesaurus xref: EFO:0003872 xref: ICD10CM:K52.9 xref: MESH:D003092 xref: NCI:C26723 xref: SNOMEDCT_US_2023_03_01:64226004 xref: UMLS_CUI:C0009319 is_a: DOID:0050589 ! inflammatory bowel disease created_by: emitraka creation_date: 2014-09-12T14:31:45Z [Term] id: DOID:0060181 name: ischemic colitis def: "A colitis caused_by inadequate blood supply to the colon." [url:http\://en.wikipedia.org/wiki/Ischemic_colitis, url:http\://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677] xref: ICD10CM:K55.9 xref: MESH:D017091 xref: SNOMEDCT_US_2023_03_01:30588004 xref: UMLS_CUI:C0162529 is_a: DOID:0060180 ! colitis created_by: emitraka creation_date: 2014-09-12T14:36:51Z [Term] id: DOID:0060182 name: microscopic colitis def: "A colitis that can only be diagnosed_by the examination of colon tissue under a microscope." [url:http\://en.wikipedia.org/wiki/Microscopic_colitis, url:http\://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis] subset: DO_rare_slim subset: NCIthesaurus xref: ICD10CM:K52.83 xref: MESH:D046728 xref: NCI:C38504 xref: ORDO:58220 xref: SNOMEDCT_US_2023_03_01:235753003 xref: UMLS_CUI:C0400821 is_a: DOID:0060180 ! colitis created_by: emitraka creation_date: 2014-09-12T14:49:18Z [Term] id: DOID:0060183 name: collagenous colitis def: "A colitis characterized by a distinctive thickening of the subepithelial collagen table." [url:http\://en.wikipedia.org/wiki/Collagenous_colitis, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts] comment: Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6135 xref: ICD10CM:K52.831 xref: MEDDRA:10048928 xref: MESH:D046729 xref: NCI:C27021 xref: SNOMEDCT_US_2023_03_01:19311003 xref: UMLS_CUI:C0238067 is_a: DOID:0060182 ! microscopic colitis created_by: emitraka creation_date: 2014-09-12T14:56:28Z [Term] id: DOID:0060184 name: lymphocytic colitis def: "A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria)." [url:http\://en.wikipedia.org/wiki/Lymphocytic_colitis, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts] comment: The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6939 xref: ICD10CM:K52.832 xref: MEDDRA:10025268 xref: MESH:D046730 xref: NCI:C27147 xref: ORDO:65279 xref: SNOMEDCT_US_2023_03_01:31437008 xref: UMLS_CUI:C0400822 is_a: DOID:0060182 ! microscopic colitis created_by: emitraka creation_date: 2014-09-12T14:58:50Z [Term] id: DOID:0060185 name: Clostridium difficile colitis def: "A colitis characterized by an overgrowth of Clostridium difficile bacteria." [url:http\://en.wikipedia.org/wiki/Clostridium_difficile_colitis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000259.htm] subset: NCIthesaurus synonym: "Pseudomembranous colitis" EXACT [] xref: ICD10CM:A04.7 xref: MEDDRA:10009657 xref: MESH:D004761 xref: NCI:C128347 xref: SNOMEDCT_US_2023_03_01:266525002 xref: SNOMEDCT_US_2023_03_01:397683000 xref: SNOMEDCT_US_2023_03_01:51180003 xref: UMLS_CUI:C0014358 xref: UMLS_CUI:C0085819 xref: UMLS_CUI:C1257843 xref: UMLS_CUI:C1257844 xref: UMLS_CUI:C1257845 is_a: DOID:0060180 ! colitis created_by: emitraka creation_date: 2014-09-12T15:01:17Z [Term] id: DOID:0060186 name: chemical colitis def: "A colitis caused_by introduction of various chemicals." [url:http\://en.wikipedia.org/wiki/Chemical_colitis, url:https\://www.ncbi.nlm.nih.gov/pubmed/18209577] xref: ICD10CM:K52 xref: ICD9CM:558 xref: UMLS_CUI:C0029512 is_a: DOID:0060180 ! colitis created_by: emitraka creation_date: 2014-09-12T15:08:50Z [Term] id: DOID:0060187 name: diversion colitis def: "A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy." [url:http\://en.wikipedia.org/wiki/Diversion_colitis, url:https\://www.ncbi.nlm.nih.gov/pubmed/1916483] xref: ICD10CM:K52 xref: ICD9CM:558 xref: UMLS_CUI:C0029512 is_a: DOID:0060180 ! colitis created_by: emitraka creation_date: 2014-09-12T15:14:29Z [Term] id: DOID:0060188 name: jejunoileitis def: "An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas." [url:http\://en.wikipedia.org/wiki/Crohn%27s_disease, url:https\://www.ncbi.nlm.nih.gov/pubmed/15973125] xref: ICD10CM:K50.0 is_a: DOID:8778 ! Crohn's disease created_by: emitraka creation_date: 2014-09-15T10:51:02Z [Term] id: DOID:0060189 name: ileitis def: "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss." [url:http\://en.wikipedia.org/wiki/Ileitis] subset: NCIthesaurus synonym: "Crohn's ileitis" EXACT [] xref: ICD10CM:K52.9 xref: MEDDRA:10021312 xref: MESH:D007079 xref: NCI:C84782 xref: SNOMEDCT_US_2023_03_01:52457000 xref: UMLS_CUI:C0020877 is_a: DOID:8778 ! Crohn's disease created_by: emitraka creation_date: 2014-09-15T11:40:07Z [Term] id: DOID:0060190 name: ileocolitis def: "An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. The most common type of Crohn's disease." [url:https\://my.clevelandclinic.org/health/diseases/9357-crohns-disease] comment: OWL classification. xref: ICD10CM:K52.9 xref: MEDDRA:10062647 is_a: DOID:8778 ! Crohn's disease created_by: emitraka creation_date: 2014-09-15T12:22:19Z [Term] id: DOID:0060191 name: gastroduodenal Crohn's disease def: "An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite." [url:http\://en.wikipedia.org/wiki/Crohn%27s_disease, url:https\://www.ncbi.nlm.nih.gov/pubmed/12769447] synonym: "upper GI Crohn's disease" EXACT [] xref: ICD10CM:K50.0 is_a: DOID:8778 ! Crohn's disease created_by: emitraka creation_date: 2014-09-15T12:35:28Z [Term] id: DOID:0060192 name: Crohn's colitis def: "An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus." [url:http\://en.wikipedia.org/wiki/Crohn%27s_disease] comment: OWL classification. subset: NCIthesaurus xref: ICD10CM:K50.1 xref: ICD9CM:555.1 xref: MESH:D003424 xref: NCI:C37262 xref: SNOMEDCT_US_2023_03_01:7620006 xref: UMLS_CUI:C0156147 is_a: DOID:8778 ! Crohn's disease created_by: emitraka creation_date: 2014-09-15T12:50:24Z [Term] id: DOID:0060193 name: amyotrophic lateral sclerosis type 1 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis] subset: DO_rare_slim synonym: "ALS1" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 1" EXACT [] xref: ICD10CM:G12.2 xref: MIM:105400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T13:04:32Z [Term] id: DOID:0060194 name: amyotrophic lateral sclerosis type 2 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/205100] subset: DO_rare_slim synonym: "ALS2" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 2" EXACT [] synonym: "amyotrophic lateral sclerosis 2, juvenile" EXACT [] xref: GARD:9470 xref: ICD10CM:G12.2 xref: MIM:205100 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T13:12:14Z [Term] id: DOID:0060195 name: amyotrophic lateral sclerosis type 3 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/606640] subset: DO_rare_slim synonym: "ALS3" EXACT OMO:0003012 [MIM:606640] synonym: "amyotrophic lateral sclerosis 3" EXACT [] xref: GARD:10501 xref: MIM:606640 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T13:18:38Z [Term] id: DOID:0060196 name: amyotrophic lateral sclerosis type 4 def: "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/602433] subset: DO_rare_slim synonym: "ALS4" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 4" EXACT [] synonym: "amyotrophic lateral sclerosis 4, juvenile" EXACT [] synonym: "dHMN with upper motor neuron signs" EXACT [] synonym: "distal hereditary motor neuropathy with pyramidal features" EXACT [] synonym: "distal hereditary motor neuropathy with upper motor neuron signs" EXACT [] xref: GARD:10502 xref: ICD10CM:G12.2 xref: MIM:602433 xref: ORDO:357043 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T13:49:59Z [Term] id: DOID:0060197 name: amyotrophic lateral sclerosis type 5 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/602099] subset: DO_rare_slim synonym: "ALS5" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 5" EXACT [] xref: GARD:10503 xref: MIM:602099 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T14:17:01Z [Term] id: DOID:0060198 name: amyotrophic lateral sclerosis type 6 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/608030] subset: DO_rare_slim synonym: "ALS6" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" EXACT [] synonym: "autosomal recessive amyotrophic lateral sclerosis 6" EXACT [] xref: GARD:9874 xref: MIM:608030 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T14:21:07Z [Term] id: DOID:0060199 name: amyotrophic lateral sclerosis type 7 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in SOD1 gene on chromosome 20." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/608031] subset: DO_rare_slim synonym: "ALS7" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 7" EXACT [] xref: GARD:10500 xref: MIM:608031 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T14:28:41Z [Term] id: DOID:0060200 name: amyotrophic lateral sclerosis type 9 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/611895] subset: DO_rare_slim synonym: "ALS9" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 9" EXACT [] xref: GARD:10498 xref: MIM:611895 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T14:33:09Z [Term] id: DOID:0060201 name: amyotrophic lateral sclerosis type 10 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/612069] subset: DO_rare_slim synonym: "ALS10" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 10" EXACT [] synonym: "amyotrophic lateral sclerosis 10, with or without frontotemporal dementia" EXACT [] synonym: "TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions" EXACT [] xref: GARD:10497 xref: MIM:612069 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T14:36:54Z [Term] id: DOID:0060202 name: amyotrophic lateral sclerosis type 11 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/612577] subset: DO_rare_slim synonym: "ALS11" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 11" EXACT [] xref: GARD:10496 xref: MIM:612577 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T14:49:07Z [Term] id: DOID:0060203 name: amyotrophic lateral sclerosis type 12 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/613435] synonym: "ALS12" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 12" EXACT [] xref: MIM:613435 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T14:53:12Z [Term] id: DOID:0060204 name: amyotrophic lateral sclerosis type 13 def: "An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/183090] comment: An association between 29 or more CAG repeats and the development of ALS13 exists. synonym: "ALS13" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 13" EXACT [] is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T14:56:08Z [Term] id: DOID:0060205 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 6 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/613954] synonym: "ALS14" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 14" EXACT [] synonym: "amyotrophic lateral sclerosis type 14" EXACT [] synonym: "amyotrophic lateral sclerosis, with or without frontotemporal dementia" EXACT [] xref: MIM:613954 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T15:02:22Z [Term] id: DOID:0060206 name: amyotrophic lateral sclerosis type 15 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/300857] comment: Described in one family only. synonym: "ALS15" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 15" EXACT [] synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" EXACT [] xref: MIM:300857 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T15:12:48Z [Term] id: DOID:0060207 name: amyotrophic lateral sclerosis type 16 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/614373] synonym: "ALS16" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 16" EXACT [] synonym: "amyotrophic lateral sclerosis 16, juvenile" EXACT [MIM:614373] xref: MIM:614373 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T15:17:01Z [Term] id: DOID:0060208 name: obsolete amyotrophic lateral sclerosis type 17 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHMP2B gene on chromosome 3." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis] is_obsolete: true created_by: emitraka creation_date: 2014-09-16T15:20:50Z [Term] id: DOID:0060209 name: amyotrophic lateral sclerosis type 18 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/614808] synonym: "ALS18" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 18" EXACT [] xref: MIM:614808 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T15:24:08Z [Term] id: DOID:0060210 name: amyotrophic lateral sclerosis type 19 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/615515] synonym: "ALS19" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 19" EXACT [] xref: MIM:615515 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T15:30:22Z [Term] id: DOID:0060211 name: amyotrophic lateral sclerosis type 20 def: "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/615426] synonym: "ALS20" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis 20" EXACT [] xref: MIM:615426 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T15:34:12Z [Term] id: DOID:0060212 name: amyotrophic lateral sclerosis type 21 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5." [url:http\://omim.org/entry/606070] synonym: "ALS21" EXACT OMO:0003012 [] xref: MIM:606070 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T16:06:31Z [Term] id: DOID:0060213 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 1 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis." [url:http\://omim.org/entry/105550] synonym: "ALSFTD" EXACT OMO:0003012 [] synonym: "amyotrophic lateral sclerosis and/or frontotemporal dementia" EXACT [] synonym: "frontotemporal dementia and/or motor neuron disease" EXACT [] synonym: "FTDALS1" EXACT OMO:0003012 [] synonym: "FTDMND" EXACT OMO:0003012 [] xref: MIM:105550 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T16:36:24Z [Term] id: DOID:0060214 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 2 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis." [url:http\://omim.org/entry/615911, url:https\://www.ncbi.nlm.nih.gov/pubmed/24934289] synonym: "FTDALS2" EXACT OMO:0003012 [] xref: MIM:615911 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: emitraka creation_date: 2014-09-16T16:44:08Z [Term] id: DOID:0060215 name: Balo concentric sclerosis def: "A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor." [url:http\://en.wikipedia.org/wiki/Balo_concentric_sclerosis, url:https\://pubmed.ncbi.nlm.nih.gov/32140322/, url:https\://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx, url:https\://www.ncbi.nlm.nih.gov/articles/PMC3110404/] comment: Similar to standard multiple sclerosis. subset: DO_rare_slim subset: NCIthesaurus synonym: "Balo disease" EXACT [] synonym: "Balo's concentric sclerosis" EXACT [] synonym: "Tumefactive multiple sclerosis" EXACT [] xref: GARD:5885 xref: ICD10CM:G37.0 xref: ICD9CM:341.1 xref: MESH:D002549 xref: NCI:C84670 xref: SNOMEDCT_US_2023_03_01:44875002 xref: UMLS_CUI:C0007795 is_a: DOID:2377 ! multiple sclerosis created_by: emitraka creation_date: 2014-09-18T15:02:17Z [Term] id: DOID:0060216 name: Cogan syndrome def: "An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue." [url:http\://en.wikipedia.org/wiki/Cogan_syndrome] comment: OWL also bilateral audiovestibular deficits. subset: DO_rare_slim synonym: "Cogan's syndrome" EXACT [] synonym: "diffuse interstitual keratitis" EXACT [] xref: GARD:1421 xref: ICD10CM:H16.32 xref: MESH:D055952 xref: ORDO:1467 xref: SNOMEDCT_US_2023_03_01:231906002 xref: UMLS_CUI:C0271270 is_a: DOID:5614 ! eye disease created_by: emitraka creation_date: 2014-09-22T16:29:20Z [Term] id: DOID:0060217 name: Cogan-Reese syndrome def: "An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma." [url:http\://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome, url:http\://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6125 xref: MEDDRA:10059200 xref: NCI:C84644 xref: ORDO:98980 xref: SNOMEDCT_US_2023_03_01:129624009 xref: UMLS_CUI:C1168173 is_a: DOID:5614 ! eye disease created_by: emitraka creation_date: 2014-09-23T12:31:25Z [Term] id: DOID:0060218 name: CREST syndrome def: "A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia." [url:http\://en.wikipedia.org/wiki/CREST_syndrome] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:12430 xref: ICD10CM:M34.1 xref: MESH:D017675 xref: NCI:C70646 xref: SNOMEDCT_US_2023_03_01:31848007 xref: SNOMEDCT_US_2023_03_01:62382002 xref: UMLS_CUI:C0206138 xref: UMLS_CUI:C1527226 is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2014-09-24T16:30:36Z [Term] id: DOID:0060219 name: lymph node adenoid cystic carcinoma def: "A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193158/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021008/] subset: DO_cancer_slim synonym: "lymph node adenoid cystic cancer" EXACT [] is_a: DOID:0080618 ! lymph node carcinoma created_by: emitraka creation_date: 2014-11-05T09:11:16Z [Term] id: DOID:0060220 name: physical urticaria def: "An urticaria induced by external physical influences." [url:http\://en.wikipedia.org/wiki/Physical_urticaria, url:http\://www.dermnetnz.org/reactions/urticaria.html] comment: WD correction. is_a: DOID:1555 ! urticaria created_by: emitraka creation_date: 2014-11-21T15:51:38Z [Term] id: DOID:0060221 name: Maffucci syndrome def: "A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas." [url:http\://en.wikipedia.org/wiki/Maffucci_syndrome, url:http\://ghr.nlm.nih.gov/condition/maffucci-syndrome] comment: WD former synonym. subset: DO_rare_slim xref: GARD:6958 xref: ICD10CM:Q78.4 xref: MIM:614569 xref: ORDO:163634 is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2014-11-26T11:16:24Z [Term] id: DOID:0060222 name: Scheie syndrome def: "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan." [url:http\://en.wikipedia.org/wiki/Scheie_syndrome] comment: WD former synonym. subset: DO_rare_slim synonym: "mucopolysaccharidosis type 1S" EXACT [] synonym: "mucopolysaccharidosis type IS" EXACT [] synonym: "mucopolysaccharidosis type V" EXACT [] xref: GARD:12561 xref: ICD10CM:E76.0 xref: MIM:607016 xref: ORDO:93474 is_a: DOID:12802 ! mucopolysaccharidosis I created_by: emitraka creation_date: 2014-11-26T11:32:20Z [Term] id: DOID:0060223 name: agraphia def: "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell." [url:http\://en.wikipedia.org/wiki/Agraphia, url:https\://www.ncbi.nlm.nih.gov/pubmed/21507544] xref: ICD10CM:R48.8 xref: MESH:D000381 is_a: DOID:0060047 ! writing disorder property_value: exactMatch "MESH:D000381" xsd:string created_by: emitraka creation_date: 2014-11-26T11:44:01Z [Term] id: DOID:0060224 name: atrial fibrillation def: "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain." [url:http\://en.wikipedia.org/wiki/Atrial_fibrillation, url:http\://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/af] subset: NCIthesaurus synonym: "A-fib" EXACT [] synonym: "AFib" EXACT [] xref: ICD9CM:427.31 xref: MESH:D001281 xref: NCI:C50466 xref: SNOMEDCT_US_2023_03_01:266306001 xref: UMLS_CUI:C0004238 is_a: DOID:10273 ! heart conduction disease property_value: exactMatch "MESH:D001281" xsd:string created_by: emitraka creation_date: 2015-01-16T14:55:21Z [Term] id: DOID:0060225 name: 3MC syndrome def: "A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16096999] comment: Xref MGI. subset: DO_rare_slim synonym: "craniofacial-ulnar-renal syndrome" EXACT [] synonym: "oculopalatoskeletal syndrome" EXACT [] xref: GARD:1118 xref: ICD10CM:Q87.8 xref: MIM:PS257920 xref: ORDO:293843 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-01-16T15:08:40Z [Term] id: DOID:0060226 name: acrofrontofacionasal dysostosis def: "A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure." [url:http\://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/2986457] comment: Xref MGI. subset: DO_rare_slim synonym: "AFFN dysostosis" EXACT [] synonym: "Richieri-Costa-Colletto syndrome" EXACT [] xref: MESH:C538186 xref: MIM:201180 xref: MIM:239710 xref: ORDO:1784 xref: SNOMEDCT_US_2023_03_01:720408003 xref: UMLS_CUI:C1860118 is_a: DOID:1934 ! dysostosis created_by: emitraka creation_date: 2015-01-16T15:39:56Z [Term] id: DOID:0060227 name: Adams-Oliver syndrome def: "A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs." [url:http\://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome, url:http\://ghr.nlm.nih.gov/condition/adams-oliver-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/18000904, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract] comment: Xref MGI. subset: DO_rare_slim synonym: "Adams Oliver syndrome" EXACT [] xref: GARD:5739 xref: MIM:100300 xref: MIM:614219 xref: MIM:614814 xref: MIM:615297 xref: MIM:616028 xref: MIM:PS100300 xref: ORDO:974 xref: SNOMEDCT_US_2023_03_01:34748004 xref: UMLS_CUI:C0265268 is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-01-16T15:48:40Z [Term] id: DOID:0060228 name: intracranial berry aneurysm def: "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm." [url:https\://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms, url:https\://radiopaedia.org/articles/saccular-cerebral-aneurysm] comment: Xref MGI. subset: DO_rare_slim synonym: "familial aneurysmal subarachnoid hemorrhage" EXACT [] synonym: "familial berry aneurysm" EXACT [] synonym: "familial intracranial saccular aneurysm" EXACT [] synonym: "saccular cerebral aneurysm" EXACT [] xref: MIM:PS105800 xref: ORDO:231160 is_a: DOID:10941 ! intracranial aneurysm created_by: emitraka creation_date: 2015-01-16T16:24:39Z [Term] id: DOID:0060229 name: Baraitser-Winter syndrome def: "A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present." [url:http\://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome] comment: Xref MGI. subset: DO_rare_slim xref: GARD:5279 xref: MIM:PS243310 xref: ORDO:2995 is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-01-16T16:52:25Z [Term] id: DOID:0060230 name: basal ganglia calcification def: "A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills." [url:http\://en.wikipedia.org/wiki/Fahr%27s_syndrome, url:http\://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract] comment: NT MGI. synonym: "Fahr disease" EXACT [] xref: MESH:C536275 xref: MIM:114100 xref: MIM:213600 xref: MIM:615007 xref: MIM:615483 xref: SNOMEDCT_US_2023_03_01:110997000 xref: UMLS_CUI:C0393590 is_a: DOID:679 ! basal ganglia disease created_by: emitraka creation_date: 2015-01-22T13:09:08Z [Term] id: DOID:0060231 name: Bruck syndrome def: "A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta." [url:http\://en.wikipedia.org/wiki/Bruck_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/9129737] comment: NT MGI. subset: DO_rare_slim synonym: "osteogenesis imperfecta with congenital joint contractures" EXACT [] xref: ICD10CM:M21.8 xref: MIM:259450 xref: MIM:609220 xref: ORDO:2771 is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-01-23T15:12:40Z [Term] id: DOID:0060232 name: branchiootic syndrome def: "A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22901925, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract] comment: NT MGI. subset: DO_rare_slim synonym: "BO syndrome" EXACT [] synonym: "BOR" EXACT OMO:0003012 [] synonym: "branchiootic dysplasia" EXACT [] xref: GARD:10148 xref: ICD10CM:Q87.0 xref: MESH:C537104 xref: MIM:120502 xref: MIM:602588 xref: MIM:608389 xref: ORDO:52429 is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-01-23T15:24:02Z [Term] id: DOID:0060233 name: cardiofaciocutaneous syndrome def: "A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes." [url:http\://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome, url:http\://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract] comment: NT MGI. subset: DO_rare_slim synonym: "cardio-facial-cutaneous syndrome" EXACT [] synonym: "CFC syndrome" EXACT [] xref: GARD:9146 xref: ICD10CM:Q87.8 xref: MESH:C535579 xref: MIM:PS115150 xref: ORDO:1340 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080690 ! RASopathy created_by: emitraka creation_date: 2015-01-23T15:37:07Z [Term] id: DOID:0060234 name: Carpenter syndrome def: "An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly." [url:http\://en.wikipedia.org/wiki/Carpenter_syndrome, url:http\://ghr.nlm.nih.gov/condition/carpenter-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract] comment: NT MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "acrocephalopolysyndactyly type II" EXACT [] xref: GARD:6003 xref: MESH:C563187 xref: MIM:201000 xref: MIM:614976 xref: NCI:C98873 xref: ORDO:65759 xref: SNOMEDCT_US_2023_03_01:403767009 xref: UMLS_CUI:C1275078 is_a: DOID:12960 ! acrocephalosyndactylia created_by: emitraka creation_date: 2015-01-23T16:06:03Z [Term] id: DOID:0060235 name: carnitine palmitoyltransferase II deficiency def: "A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria." [url:http\://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency, url:http\://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency] comment: NT MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "CPT-II" EXACT OMO:0003012 [] synonym: "infantile carnitine palmitoyltransferase II deficiency" EXACT [] synonym: "late-onset carnitine palmitoyltransferase II deficiency" EXACT [] synonym: "lethal neonatal carnitine palmitoyltransferase II deficiency" EXACT [] xref: MESH:C535589 xref: MIM:255110 xref: MIM:600649 xref: MIM:608836 xref: NCI:C114766 xref: ORDO:157 xref: SNOMEDCT_US_2023_03_01:238002005 xref: UMLS_CUI:C0342790 is_a: DOID:3146 ! lipid metabolism disorder created_by: emitraka creation_date: 2015-01-23T16:35:22Z [Term] id: DOID:0060236 name: xanthinuria def: "A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones." [url:http\://en.wikipedia.org/wiki/Xanthinuria, url:https\://medlineplus.gov/genetics/condition/hereditary-xanthinuria/, url:https\://www.ncbi.nlm.nih.gov/pubmed/4369449] comment: NT MGI. subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "classic xanthinuria" EXACT [] synonym: "hereditary xanthinuria" EXACT [] synonym: "xanthine dehydrogenase deficiency" EXACT [] synonym: "xanthine oxidase deficiency" EXACT [] xref: ICD10CM:E79.8 xref: MIM:PS278300 xref: ORDO:3467 xref: SNOMEDCT_US_2023_03_01:190919008 xref: UMLS_CUI:C0220988 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:653 ! purine-pyrimidine metabolic disorder created_by: emitraka creation_date: 2015-01-27T14:10:42Z [Term] id: DOID:0060237 name: Warburg micro syndrome def: "A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism." [url:http\://en.wikipedia.org/wiki/Micro_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/22768674] comment: NT MGI. subset: DO_rare_slim synonym: "micro syndrome" EXACT [] synonym: "WARBM" EXACT OMO:0003012 [] synonym: "Warburg-Sjo-Fledelius syndrome" EXACT [] xref: MESH:C536681 xref: MIM:PS600118 xref: ORDO:2510 xref: UMLS_CUI:C1838625 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-01-27T14:32:30Z [Term] id: DOID:0060238 name: Van Maldergem syndrome def: "A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1633641] comment: NT MGI. subset: DO_rare_slim synonym: "cerebro-facio-articular syndrome" EXACT [] xref: GARD:5456 xref: MESH:C536530 xref: MIM:PS601390 xref: ORDO:314679 xref: SNOMEDCT_US_2023_03_01:763353000 xref: UMLS_CUI:C1832390 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-01-27T15:42:05Z [Term] id: DOID:0060239 name: Van der Woude syndrome def: "A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone." [url:http\://en.wikipedia.org/wiki/Van_der_Woude_syndrome, url:http\://ghr.nlm.nih.gov/condition/van-der-woude-syndrome] comment: NT MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "lip-pit syndrome" RELATED [] xref: GARD:8414 xref: ICD10CM:Q38.0 xref: MESH:C536528 xref: MESH:C563529 xref: MIM:119300 xref: MIM:606713 xref: NCI:C74986 xref: ORDO:888 xref: SNOMEDCT_US_2023_03_01:79261008 xref: UMLS_CUI:C0175697 xref: UMLS_CUI:C1834339 is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-01-27T15:51:56Z [Term] id: DOID:0060240 name: UV-sensitive syndrome def: "A skin disease characterized by photosensitivity and liver spots (solar lentigines)." [url:http\://en.wikipedia.org/wiki/UV-sensitive_syndrome, url:http\://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome] comment: NT MGI. subset: DO_rare_slim xref: MESH:C563466 xref: MIM:600630 xref: MIM:614621 xref: MIM:614640 xref: MIM:PS600630 xref: ORDO:178338 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:37 ! skin disease created_by: emitraka creation_date: 2015-01-27T16:00:50Z [Term] id: DOID:0060241 name: 3-M syndrome def: "A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities." [url:http\://en.wikipedia.org/wiki/3-M_syndrome, url:http\://ghr.nlm.nih.gov/condition/3-m-syndrome] comment: NT MGI. subset: DO_rare_slim synonym: "dolichospondylic dysplasia" EXACT [] synonym: "gloomy face syndrome" EXACT [] synonym: "Le Merrer syndrome" EXACT [] synonym: "Miller-McKusick-Malvaux syndrome" EXACT [] synonym: "three M syndrome" EXACT [] synonym: "Yakut short stature syndrome" EXACT [] xref: GARD:5667 xref: MESH:C535314 xref: MIM:273750 xref: MIM:612921 xref: MIM:614205 xref: ORDO:2616 xref: SNOMEDCT_US_2023_03_01:702342007 xref: UMLS_CUI:C1848862 xref: UMLS_CUI:C3280146 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-01-27T16:10:58Z [Term] id: DOID:0060242 name: synpolydactyly def: "A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene." [url:http\://en.wikipedia.org/wiki/Synpolydactyly, url:https\://www.ncbi.nlm.nih.gov/pubmed/18177473, url:https\://www.ncbi.nlm.nih.gov/pubmed/8817328] comment: NT MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "syndactyly type 2" EXACT [] xref: GARD:5087 xref: MESH:C538153 xref: MIM:186000 xref: MIM:608180 xref: MIM:610234 xref: NCI:C75003 xref: ORDO:295195 xref: SNOMEDCT_US_2023_03_01:715724002 xref: UMLS_CUI:C2699746 is_a: DOID:11193 ! syndactyly created_by: emitraka creation_date: 2015-01-27T16:57:56Z [Term] id: DOID:0060243 name: stuttering def: "An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech." [url:http\://en.wikipedia.org/wiki/Stuttering, url:http\://www.asha.org/public/speech/disorders/stuttering.htm, url:http\://www.merriam-webster.com/dictionary/stutter] comment: NT MGI. subset: NCIthesaurus synonym: "familial persistent stuttering" EXACT [] synonym: "stammering" EXACT [] xref: ICD10CM:F80.81 xref: MESH:D013342 xref: MIM:184450 xref: MIM:609261 xref: MIM:614655 xref: MIM:614668 xref: NCI:C35043 xref: SNOMEDCT_US_2023_03_01:191987007 xref: SNOMEDCT_US_2023_03_01:229631007 xref: SNOMEDCT_US_2023_03_01:29916003 xref: UMLS_CUI:C0038131 xref: UMLS_CUI:C0038506 xref: UMLS_CUI:C0454542 xref: UMLS_CUI:C0751527 xref: UMLS_CUI:C0751528 xref: UMLS_CUI:C0751529 xref: UMLS_CUI:C3489627 is_a: DOID:4186 ! articulation disorder created_by: emitraka creation_date: 2015-01-28T16:04:54Z [Term] id: DOID:0060244 name: specific language impairment def: "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." [url:http\://en.wikipedia.org/wiki/Specific_language_impairment, url:https\://www.ncbi.nlm.nih.gov/pubmed/19646677] comment: NT MGI. xref: MIM:606711 xref: MIM:606712 xref: MIM:607134 xref: MIM:612514 xref: MIM:615432 is_a: DOID:93 ! language disorder created_by: emitraka creation_date: 2015-01-28T16:29:51Z [Term] id: DOID:0060245 name: Mast syndrome def: "A hereditary spastic paraplegia associated with dementia." [url:http\://ghr.nlm.nih.gov/gene/SPG21, url:https\://www.ncbi.nlm.nih.gov/pubmed/6024251] comment: NT MGI. subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 21" EXACT [] synonym: "autosomal recessive spastic paraplegia type 21" EXACT [] synonym: "hereditary spastic paraplegia 21" EXACT [] synonym: "SPG21" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MESH:C565409 xref: MIM:248900 xref: ORDO:101001 is_a: DOID:2476 ! hereditary spastic paraplegia created_by: emitraka creation_date: 2015-01-28T16:42:37Z [Term] id: DOID:0060246 name: MASA syndrome def: "A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range." [url:http\://en.wikipedia.org/wiki/MASA_syndrome, url:http\://ghr.nlm.nih.gov/condition/l1-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract] comment: NT MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "CRASH syndrome" EXACT [] synonym: "Gareis-Mason syndrome" EXACT [] synonym: "hereditary spastic paraplegia 1" EXACT [] synonym: "L1 syndrome" EXACT [] synonym: "SPG1" EXACT OMO:0003012 [] synonym: "X-linked complicated hereditary spastic paraplegia type 1" EXACT [] synonym: "X-linked corpus callosum agenesis" EXACT [] synonym: "X-linked spastic paraplegia 1" EXACT [] xref: GARD:6986 xref: MESH:C536029 xref: MIM:303350 xref: NCI:C129930 xref: ORDO:2466 xref: SNOMEDCT_US_2023_03_01:716996008 xref: UMLS_CUI:C0795953 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:936 ! brain disease created_by: emitraka creation_date: 2015-01-28T16:49:53Z [Term] id: DOID:0060247 name: Smith-McCort dysplasia def: "A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest." [url:https\://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/1216821] comment: NT MGI. subset: DO_rare_slim xref: GARD:10620 xref: MESH:C564589 xref: MIM:PS607326 xref: ORDO:178355 xref: SNOMEDCT_US_2023_03_01:715862006 xref: UMLS_CUI:C1846431 is_a: DOID:0111167 ! Dyggve-Melchior-Clausen disease created_by: emitraka creation_date: 2015-01-29T15:06:25Z [Term] id: DOID:0060248 name: Simpson-Golabi-Behmel syndrome type 1 def: "A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26." [url:http\://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome, url:http\://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/36720533/] subset: DO_rare_slim subset: NCIthesaurus synonym: "bulldog syndrome" EXACT [] synonym: "DGSX Golabi-Rosen syndrome" EXACT [] synonym: "Golabi-Rosen syndrome" EXACT [] synonym: "Sara Angers syndrome" EXACT [] synonym: "SGB syndrome" EXACT [] synonym: "Simpson dysmorphia syndrome" EXACT [] synonym: "X-linked dysplasia gigantism syndrome" EXACT [] xref: GARD:7649 xref: MESH:C537340 xref: MIM:312870 xref: NCI:C118787 xref: ORDO:373 xref: UMLS_CUI:C0796154 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-01-29T15:15:46Z [Term] id: DOID:0060249 name: scoliosis def: "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine." [url:http\://en.wikipedia.org/wiki/Scoliosis, url:http\://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140] comment: NT MGI add. subset: NCIthesaurus xref: ICD10CM:M41.9 xref: MESH:D012600 xref: NCI:C78603 xref: SNOMEDCT_US_2023_03_01:36773001 xref: UMLS_CUI:C0036439 is_a: DOID:0060564 ! spinal disease is_a: DOID:0080010 ! bone structure disease property_value: exactMatch "MESH:D012600" xsd:string created_by: emitraka creation_date: 2015-01-29T15:44:16Z [Term] id: DOID:0060250 name: idiopathic scoliosis def: "A scoliosis with no known cause." [url:http\://en.wikipedia.org/wiki/Scoliosis] comment: NT MGI. subset: DO_rare_slim xref: GARD:552 is_a: DOID:0060249 ! scoliosis created_by: emitraka creation_date: 2015-01-29T15:52:18Z [Term] id: DOID:0060251 name: sclerosteosis def: "A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life." [url:http\://en.wikipedia.org/wiki/Sclerostin#Clinical_significance, url:https\://www.ncbi.nlm.nih.gov/pubmed/11836356] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:4771 xref: MESH:C537525 xref: MIM:PS269500 xref: NCI:C131133 xref: ORDO:3152 xref: SNOMEDCT_US_2023_03_01:17568006 xref: UMLS_CUI:C0265301 is_a: DOID:205 ! hyperostosis created_by: emitraka creation_date: 2015-01-29T16:02:45Z [Term] id: DOID:0060252 name: sclerocornea def: "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea." [url:http\://en.wikipedia.org/wiki/Sclerocornea, url:https\://www.ncbi.nlm.nih.gov/pubmed/3994576] subset: DO_rare_slim synonym: "isolated congenital sclerocornea" EXACT [] xref: MESH:C565209 xref: MIM:181700 xref: ORDO:91490 xref: UMLS_CUI:C1853235 is_a: DOID:10124 ! corneal disease created_by: emitraka creation_date: 2015-01-29T16:16:57Z [Term] id: DOID:0060253 name: scapuloperoneal myopathy def: "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28179901] comment: NT MGI. xref: MESH:C536624 xref: MIM:300695 is_a: DOID:9884 ! muscular dystrophy created_by: emitraka creation_date: 2015-01-29T16:35:26Z [Term] id: DOID:0060254 name: Robinow syndrome def: "A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities." [url:http\://en.wikipedia.org/wiki/Robinow_syndrome, url:http\://ghr.nlm.nih.gov/condition/robinow-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract] comment: NT MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "acral dysostosis with facial and genital abnormalities" EXACT [] synonym: "fetal face syndrome" EXACT [] synonym: "Robinow dwarfism" EXACT [] xref: GARD:312 xref: ICD10CM:Q87.19 xref: MESH:C562492 xref: MIM:PS268310 xref: NCI:C85048 xref: ORDO:97360 xref: SNOMEDCT_US_2023_03_01:76520005 xref: UMLS_CUI:C0265205 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-01-29T16:42:52Z [Term] id: DOID:0060255 name: rippling muscle disease 2 alt_id: DOID:0110302 def: "A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25." [url:http\://ghr.nlm.nih.gov/condition/rippling-muscle-disease, url:https\://www.ncbi.nlm.nih.gov/pubmed/9537420] comment: NT MGI. subset: DO_rare_slim synonym: "autosomal dominant limb-girdle muscular dystrophy type 1C" EXACT [] xref: GARD:9164 xref: MIM:606072 xref: ORDO:265 xref: ORDO:97238 xref: SNOMEDCT_US_2023_03_01:709281006 xref: UMLS_CUI:C1853698 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:66 ! muscle tissue disease created_by: emitraka creation_date: 2015-01-29T16:51:43Z [Term] id: DOID:0060256 name: Dowling-Degos disease def: "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases." [url:http\://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures, url:http\://ghr.nlm.nih.gov/condition/dowling-degos-disease] comment: NT MGI. subset: DO_rare_slim synonym: "dark dot disease" EXACT [] synonym: "reticular pigment anomaly of flexures" EXACT [] xref: GARD:9775 xref: MESH:C562924 xref: MIM:179850 xref: MIM:615327 xref: MIM:615674 xref: MIM:615696 xref: ORDO:79145 xref: SNOMEDCT_US_2023_03_01:239133004 xref: UMLS_CUI:C0406811 xref: UMLS_CUI:C3714534 is_a: DOID:10123 ! pigmentation disease created_by: emitraka creation_date: 2015-01-30T11:04:57Z [Term] id: DOID:0060257 name: dyschromatosis symmetrica hereditaria def: "A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities." [url:http\://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria, url:https\://www.ncbi.nlm.nih.gov/pubmed/22974014] comment: NT MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "reticulate acropigmentation of Dohi" EXACT [] xref: MESH:C535729 xref: MIM:127400 xref: NCI:C118435 xref: ORDO:41 xref: SNOMEDCT_US_2023_03_01:239085000 xref: UMLS_CUI:C0406775 is_a: DOID:10123 ! pigmentation disease created_by: emitraka creation_date: 2015-01-30T16:08:47Z [Term] id: DOID:0060258 name: reticulate acropigmentation of Kitamura def: "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22808308] comment: NT MGI. subset: DO_rare_slim synonym: "RAPK" EXACT OMO:0003012 [] xref: MIM:615537 xref: ORDO:178307 xref: SNOMEDCT_US_2023_03_01:239133004 xref: UMLS_CUI:C0406811 is_a: DOID:10123 ! pigmentation disease created_by: emitraka creation_date: 2015-01-30T16:19:57Z [Term] id: DOID:0060259 name: renal-hepatic-pancreatic dysplasia def: "A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth." [url:http\://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/17605805] subset: DO_rare_slim synonym: "Ivemark's syndrome" EXACT [] xref: MESH:C567142 xref: MIM:208540 xref: MIM:615415 xref: ORDO:294415 is_a: DOID:0080015 ! physical disorder created_by: emitraka creation_date: 2015-01-30T16:33:37Z [Term] id: DOID:0060260 name: ptosis def: "An eye disease characterized by the drooping or falling of the upper or lower eyelid." [url:http\://en.wikipedia.org/wiki/Ptosis_%28eyelid%29] comment: NT MGI add. subset: NCIthesaurus synonym: "blepharoptosis" EXACT [] synonym: "drooping eyelid" EXACT [] xref: ICD10CM:H02.4 xref: ICD9CM:374.3 xref: MESH:D001763 xref: NCI:C27298 xref: SNOMEDCT_US_2023_03_01:204197004 xref: UMLS_CUI:C0005745 is_a: DOID:5614 ! eye disease created_by: emitraka creation_date: 2015-01-30T16:46:53Z [Term] id: DOID:0060261 name: congenital ptosis def: "A ptosis characterized by eyelid drop present at birth." [url:http\://en.wikipedia.org/wiki/Ptosis_%28eyelid%29, url:https\://eyewiki.aao.org/Ptosis\,_Congenital] comment: NT MGI. subset: NCIthesaurus xref: ICD10CM:Q10.0 xref: ICD9CM:743.61 xref: MIM:178300 xref: MIM:300245 xref: NCI:C27049 xref: SNOMEDCT_US_2023_03_01:204197004 xref: UMLS_CUI:C0266573 is_a: DOID:0060260 ! ptosis is_a: DOID:0080015 ! physical disorder created_by: emitraka creation_date: 2015-01-30T16:53:38Z [Term] id: DOID:0060262 name: gallbladder disease alt_id: DOID:0000000 def: "A gastrointestinal system disease that is located_in the gallbladder." [url:http\://en.wikipedia.org/wiki/Gallbladder_disease] comment: Xref MGI. subset: NCIthesaurus xref: ICD10CM:K82.9 xref: ICD9CM:575.9 xref: MESH:D005705 xref: MIM:609918 xref: MIM:609919 xref: MIM:611465 xref: NCI:C34631 xref: SNOMEDCT_US_2023_03_01:155807008 xref: UMLS_CUI:C0016977 is_a: DOID:77 ! gastrointestinal system disease created_by: emitraka creation_date: 2015-02-02T15:48:08Z [Term] id: DOID:0060263 name: porencephaly def: "A brain disease that is characterized by encephalomalacia and cystic brain lesions." [url:https\://en.wikipedia.org/wiki/Cerebral_softening, url:https\://en.wikipedia.org/wiki/Porencephaly] comment: NT MGI. subset: DO_rare_slim xref: GARD:7430 xref: ICD10CM:Q04.6 xref: MESH:D065708 xref: ORDO:2940 xref: SNOMEDCT_US_2023_03_01:1162864000 xref: SNOMEDCT_US_2023_03_01:38353004 xref: SNOMEDCT_US_2023_03_01:698837003 xref: UMLS_CUI:C0302892 xref: UMLS_CUI:C1867983 xref: UMLS_CUI:C3698507 is_a: DOID:936 ! brain disease created_by: emitraka creation_date: 2015-02-04T14:12:00Z [Term] id: DOID:0060264 name: pontocerebellar hypoplasia def: "A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum." [url:https\://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia#definition] comment: NT MGI add. subset: DO_rare_slim synonym: "PCH" EXACT OMO:0003012 [] xref: GARD:10977 xref: MESH:C580383 xref: MIM:PS607596 xref: SNOMEDCT_US_2023_03_01:45163000 xref: UMLS_CUI:C0266468 is_a: DOID:1289 ! neurodegenerative disease created_by: emitraka creation_date: 2015-02-04T14:23:25Z [Term] id: DOID:0060265 name: pontocerebellar hypoplasia type 1A def: "A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/12548734/] comment: NT MGI. subset: DO_rare_slim xref: MIM:607596 xref: ORDO:2254 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 created_by: emitraka creation_date: 2015-02-04T14:28:28Z [Term] id: DOID:0060266 name: pontocerebellar hypoplasia type 1B def: "A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/25149867/] comment: NT MGI. subset: DO_rare_slim xref: MIM:614678 xref: ORDO:2254 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 created_by: emitraka creation_date: 2015-02-04T14:28:28Z [Term] id: DOID:0060267 name: pontocerebellar hypoplasia type 2A def: "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene." [url:https\://www.omim.org/entry/277470] comment: NT MGI. subset: DO_rare_slim xref: GARD:10705 xref: GARD:3631 xref: MESH:C564738 xref: MIM:277470 xref: ORDO:2524 xref: UMLS_CUI:C1848526 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 created_by: emitraka creation_date: 2015-02-04T14:28:28Z [Term] id: DOID:0060268 name: pontocerebellar hypoplasia type 2B def: "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene." [url:https\://www.omim.org/entry/612389] comment: NT MGI. subset: DO_rare_slim xref: MESH:C567325 xref: MIM:612389 xref: ORDO:2524 xref: UMLS_CUI:C2676466 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 created_by: emitraka creation_date: 2015-02-04T14:28:28Z [Term] id: DOID:0060269 name: pontocerebellar hypoplasia type 2C def: "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene." [url:https\://www.omim.org/entry/612390] comment: NT MGI. subset: DO_rare_slim xref: MESH:C567324 xref: MIM:612390 xref: ORDO:2524 xref: UMLS_CUI:C2676465 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 created_by: emitraka creation_date: 2015-02-04T14:28:28Z [Term] id: DOID:0060270 name: pontocerebellar hypoplasia type 2D def: "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene." [url:https\://www.omim.org/entry/613811] comment: NT MGI. subset: DO_rare_slim xref: ICD10CM:Q04.3 xref: MIM:613811 xref: ORDO:2524 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 created_by: emitraka creation_date: 2015-02-04T14:28:28Z [Term] id: DOID:0060271 name: pontocerebellar hypoplasia type 2E def: "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene." [url:https\://www.omim.org/entry/615851] comment: NT MGI. xref: MIM:615851 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 created_by: emitraka creation_date: 2015-02-04T14:28:28Z [Term] id: DOID:0060272 name: pontocerebellar hypoplasia type 3 def: "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene." [url:https\://pubmed.ncbi.nlm.nih.gov/19277761/] comment: NT MGI. subset: DO_rare_slim xref: GARD:10708 xref: MESH:C548072 xref: MIM:608027 xref: ORDO:97249 xref: SNOMEDCT_US_2023_03_01:718609003 xref: UMLS_CUI:C1842687 is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: emitraka creation_date: 2015-02-04T14:28:28Z [Term] id: DOID:0060273 name: pontocerebellar hypoplasia type 4 def: "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/18711368/] comment: NT MGI. subset: DO_rare_slim xref: GARD:343 xref: MESH:C536716 xref: MIM:225753 xref: ORDO:166063 xref: SNOMEDCT_US_2023_03_01:718608006 xref: UMLS_CUI:C1856974 is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: emitraka creation_date: 2015-02-04T14:28:28Z [Term] id: DOID:0060274 name: pontocerebellar hypoplasia type 5 def: "A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/16470708/] comment: NT MGI. subset: DO_rare_slim xref: GARD:10709 xref: MESH:C537745 xref: MIM:610204 xref: ORDO:166068 xref: SNOMEDCT_US_2023_03_01:718607001 xref: UMLS_CUI:C1857762 is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: emitraka creation_date: 2015-02-04T14:28:28Z [Term] id: DOID:0060275 name: pontocerebellar hypoplasia type 6 def: "A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/17847012/, url:https\://www.omim.org/entry/611523] comment: NT MGI. subset: DO_rare_slim xref: GARD:10710 xref: MESH:C548074 xref: MIM:611523 xref: ORDO:166073 xref: SNOMEDCT_US_2023_03_01:718606005 xref: UMLS_CUI:C1969084 is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: emitraka creation_date: 2015-02-04T14:28:28Z [Term] id: DOID:0060276 name: pontocerebellar hypoplasia type 7 def: "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/21594990/] comment: NT MGI. subset: DO_rare_slim xref: ICD10CM:Q04.3 xref: MIM:614969 xref: ORDO:284339 is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: emitraka creation_date: 2015-02-04T14:28:28Z [Term] id: DOID:0060277 name: pontocerebellar hypoplasia type 8 def: "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene." [url:https\://pubmed.ncbi.nlm.nih.gov/23023333/] comment: NT MGI. subset: DO_rare_slim xref: ICD10CM:Q04.3 xref: MIM:614961 xref: ORDO:324569 is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: emitraka creation_date: 2015-02-04T14:28:28Z [Term] id: DOID:0060278 name: pontocerebellar hypoplasia type 9 def: "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/23911318/] comment: NT MGI. subset: DO_rare_slim xref: ICD10CM:Q04.3 xref: MIM:615809 xref: ORDO:369920 is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: emitraka creation_date: 2015-02-04T14:28:28Z [Term] id: DOID:0060279 name: pontocerebellar hypoplasia type 10 def: "A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/24766809/, url:https\://pubmed.ncbi.nlm.nih.gov/24766810/] comment: NT MGI. subset: DO_rare_slim xref: MIM:615803 xref: ORDO:411493 is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: emitraka creation_date: 2015-02-04T14:28:28Z [Term] id: DOID:0060280 name: primary pigmented nodular adrenocortical disease def: "An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2212318] comment: NT MGI. subset: DO_rare_slim synonym: "PPNAD" EXACT OMO:0003012 [] xref: GARD:10906 xref: MIM:PS610489 xref: ORDO:647772 xref: UMLS_CUI:C4304832 xref: UMLS_CUI:C5816750 is_a: DOID:3952 ! adrenal cortex disease property_value: exactMatch "GARD:10906" xsd:string property_value: exactMatch "MIM:PS610489" xsd:string property_value: exactMatch "ORDO:647772" xsd:string property_value: exactMatch "UMLS_CUI:C4304832" xsd:string property_value: exactMatch "UMLS_CUI:C5816750" xsd:string created_by: emitraka creation_date: 2015-02-04T16:01:02Z [Term] id: DOID:0060281 name: photosensitive epilepsy def: "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights." [url:http\://en.wikipedia.org/wiki/Photosensitive_epilepsy] comment: NT MGI. subset: DO_rare_slim synonym: "photogenic epilepsy" EXACT [] synonym: "photoparoxysmal response" EXACT [] xref: GARD:5648 xref: ICD10CM:G40.8 xref: MIM:132100 xref: MIM:609572 xref: MIM:609573 xref: ORDO:166409 is_a: DOID:1826 ! epilepsy created_by: emitraka creation_date: 2015-02-04T16:15:55Z [Term] id: DOID:0060282 name: persistent hyperplastic primary vitreous def: "A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development." [url:https\://en.wikipedia.org/wiki/Persistent_hyperplastic_primary_vitreous] comment: NT MGI. subset: DO_rare_slim subset: NCIthesaurus xref: MESH:D054514 xref: MIM:221900 xref: MIM:611308 xref: NCI:C161554 xref: ORDO:91495 xref: SNOMEDCT_US_2023_03_01:69927002 xref: UMLS_CUI:C0266568 is_a: DOID:9720 ! vitreous disease created_by: emitraka creation_date: 2015-02-04T16:21:06Z [Term] id: DOID:0060283 name: peeling skin syndrome def: "A skin disease that is characterized by the painless, continuous peeling of the top layer of skin." [url:https\://rarediseases.org/rare-diseases/peeling-skin-syndrome/] subset: DO_rare_slim synonym: "deciduous skin" EXACT [] synonym: "familial continuous skin peeling syndrome" EXACT [] synonym: "keratosis exfoliativa congenita" EXACT [] synonym: "peeling skin disease" EXACT [] xref: GARD:7347 xref: MESH:C564818 xref: MIM:PS270300 xref: ORDO:817 xref: SNOMEDCT_US_2023_03_01:724838009 xref: UMLS_CUI:C1849193 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:37 ! skin disease property_value: broadMatch "ICD10CM:Q80.8" xsd:string property_value: exactMatch "GARD:7347" xsd:string property_value: exactMatch "MIM:PS270300" xsd:string property_value: exactMatch "ORDO:817" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:724838009" xsd:string property_value: exactMatch "UMLS_CUI:C1849193" xsd:string created_by: emitraka creation_date: 2015-02-04T16:28:52Z [Term] id: DOID:0060284 name: paroxysmal nocturnal hemoglobinuria def: "An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system." [url:https\://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria] comment: NT MGI. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7337 xref: ICD10CM:D59.5 xref: ICD10CM:D59.6 xref: MESH:D006457 xref: MIM:300818 xref: MIM:615399 xref: NCI:C61233 xref: ORDO:447 xref: SNOMEDCT_US_2023_03_01:1468004 xref: SNOMEDCT_US_2023_03_01:154805009 xref: SNOMEDCT_US_2023_03_01:191226006 xref: UMLS_CUI:C0019050 xref: UMLS_CUI:C0024790 xref: UMLS_CUI:C0086774 is_a: DOID:582 ! hemoglobinuria created_by: emitraka creation_date: 2015-02-04T16:30:50Z [Term] id: DOID:0060285 name: parietal foramina def: "An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene." [url:https\://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina] comment: NT MGI. subset: DO_rare_slim synonym: "Caitlin marks" EXACT [] synonym: "enlarged parietal foramina" EXACT [] synonym: "hereditary cranium bifidum" EXACT [] xref: MESH:C566826 xref: MIM:168500 xref: MIM:609566 xref: MIM:609597 xref: ORDO:60015 xref: SNOMEDCT_US_2023_03_01:718099006 xref: UMLS_CUI:C1868598 is_a: DOID:0080074 ! neural tube defect created_by: emitraka creation_date: 2015-02-04T16:36:15Z [Term] id: DOID:0060286 name: combined oxidative phosphorylation deficiency def: "A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction." [url:https\://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency] comment: NT MGI. subset: DO_rare_slim xref: GARD:12893 xref: MIM:PS609060 is_a: DOID:700 ! mitochondrial metabolism disease created_by: emitraka creation_date: 2015-02-04T16:56:52Z [Term] id: DOID:0060287 name: cornea plana def: "A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D." [url:https\://disorders.eyes.arizona.edu/handouts/cornea-plana] comment: NT MGI. subset: DO_rare_slim synonym: "flat cornea" EXACT [] xref: ICD10CM:Q13.4 xref: MIM:121400 xref: MIM:217300 xref: ORDO:53691 is_a: DOID:10124 ! corneal disease created_by: emitraka creation_date: 2015-02-04T17:04:28Z [Term] id: DOID:0060288 name: omodysplasia def: "An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism." [url:https\://pubmed.ncbi.nlm.nih.gov/12210345/] comment: NT MGI. subset: DO_rare_slim xref: MIM:PS258315 xref: ORDO:2733 xref: SNOMEDCT_US_2023_03_01:725164008 xref: UMLS_CUI:C4510897 is_a: DOID:2256 ! osteochondrodysplasia created_by: emitraka creation_date: 2015-02-05T09:58:47Z [Term] id: DOID:0060289 name: Ohdo syndrome def: "A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability." [url:https\://pubmed.ncbi.nlm.nih.gov/16700052/] comment: NT MGI. subset: DO_rare_slim synonym: "Ohdo blepharophimosis syndrome" EXACT [] xref: GARD:3348 xref: MESH:C536232 xref: MIM:249620 xref: MIM:300895 xref: ORDO:2728 xref: SNOMEDCT_US_2023_03_01:412787009 xref: UMLS_CUI:C0796094 is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-02-05T10:03:42Z [Term] id: DOID:0060290 name: Ohdo syndrome, SBBYS variant def: "A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22." [url:https\://pubmed.ncbi.nlm.nih.gov/22077973/, url:https\://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes] comment: NT MGI. subset: DO_rare_slim synonym: "blepharophimosis-intellectual disability syndrome, SBBYS type" EXACT [] synonym: "Say-Barber-Biesecker-Young-Simpson syndrome" EXACT [] synonym: "SBBYSS" RELATED OMO:0003012 [] xref: MESH:C536717 xref: MIM:603736 xref: ORDO:3047 xref: SNOMEDCT_US_2023_03_01:699298009 xref: UMLS_CUI:C1863557 is_a: DOID:0060289 ! Ohdo syndrome created_by: emitraka creation_date: 2015-02-05T10:07:12Z [Term] id: DOID:0060291 name: oculodentodigital dysplasia def: "A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities." [url:http\://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia, url:https\://en.wikipedia.org/wiki/Oculodentodigital_dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/12021949] comment: NT MGI. subset: DO_rare_slim synonym: "ODD syndrome" EXACT [] xref: GARD:7239 xref: MESH:C563160 xref: MIM:164200 xref: MIM:257850 xref: ORDO:2710 xref: SNOMEDCT_US_2023_03_01:31291009 xref: UMLS_CUI:C0812437 is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-02-05T10:12:23Z [Term] id: DOID:0060292 name: X-linked chondrodysplasia punctata 1 def: "A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22." [url:https\://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata] comment: NT MGI. subset: DO_rare_slim synonym: "chondrodystrophia calcificans congenita" EXACT [] xref: ICD10CM:Q77.3 xref: MESH:C580533 xref: MIM:302950 xref: ORDO:35173 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2581 ! chondrodysplasia punctata created_by: emitraka creation_date: 2015-02-05T16:35:34Z [Term] id: DOID:0060293 name: autosomal dominant chondrodysplasia punctata def: "A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance." [url:https\://www.omim.org/entry/118650] comment: NT MGI. subset: DO_rare_slim xref: ICD10CM:Q77.3 xref: MIM:118650 xref: MIM:118651 xref: MIM:602497 xref: ORDO:79344 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2581 ! chondrodysplasia punctata created_by: emitraka creation_date: 2015-02-05T16:49:46Z [Term] id: DOID:0060294 name: cold-induced sweating syndrome def: "A syndrome that is characterized by profuse sweating induced by cold ambient temperature." [url:http\://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome] comment: NT MGI. subset: DO_rare_slim synonym: "Crisponi syndrome" EXACT [] synonym: "Sohar-Crisponi syndrome" EXACT [] xref: MESH:C536214 xref: MIM:PS272430 xref: ORDO:157820 xref: SNOMEDCT_US_2023_03_01:725097006 xref: UMLS_CUI:C1832409 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-02-06T16:10:07Z [Term] id: DOID:0060295 name: complement component 2 deficiency def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene." [url:https\://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency] comment: NT MGI. subset: DO_rare_slim xref: GARD:1452 xref: ICD10CM:D84.1 xref: MIM:217000 xref: ORDO:169147 is_a: DOID:626 ! complement deficiency created_by: emitraka creation_date: 2015-02-09T15:32:25Z [Term] id: DOID:0060296 name: congenital secretory chloride diarrhea 1 def: "A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/19861545/] comment: NT MGI. subset: DO_rare_slim synonym: "congenital chloride diarrhea finnish type" EXACT [] synonym: "congenital chloride diarrhoea finnish type" EXACT [] synonym: "congenital chloridorrhea" EXACT [] synonym: "congenital secretory chloride diarrhoea 1" EXACT [] xref: MESH:C536210 xref: MIM:214700 xref: ORDO:53689 xref: SNOMEDCT_US_2023_03_01:24412005 xref: UMLS_CUI:C0267662 is_a: DOID:0050129 ! secretory diarrhea is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder created_by: emitraka creation_date: 2015-02-09T16:42:50Z [Term] id: DOID:0060297 name: complement component 4a deficiency def: "A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency." [url:https\://www.omim.org/entry/614380] comment: NT MGI. subset: DO_rare_slim xref: ICD10CM:D84.1 xref: MESH:C565167 xref: MIM:614380 xref: ORDO:169147 is_a: DOID:626 ! complement deficiency created_by: emitraka creation_date: 2015-02-09T15:32:25Z [Term] id: DOID:0060298 name: complement component 4b deficiency def: "A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency." [url:https\://www.omim.org/entry/614379] comment: NT MGI. subset: DO_rare_slim xref: ICD10CM:D84.1 xref: MIM:614379 xref: ORDO:169147 is_a: DOID:626 ! complement deficiency created_by: emitraka creation_date: 2015-02-09T15:32:25Z [Term] id: DOID:0060299 name: complement component 6 deficiency def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene." [url:https\://www.omim.org/entry/612446] comment: NT MGI. subset: DO_rare_slim xref: ICD10CM:D84.1 xref: MESH:C567307 xref: MIM:612446 xref: ORDO:169150 is_a: DOID:626 ! complement deficiency created_by: emitraka creation_date: 2015-02-09T15:32:25Z [Term] id: DOID:0060300 name: complement component 7 deficiency def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene." [url:https\://www.omim.org/entry/610102] comment: NT MGI. subset: DO_rare_slim xref: ICD10CM:D84.1 xref: MESH:C566443 xref: MIM:610102 xref: ORDO:1695150 is_a: DOID:626 ! complement deficiency created_by: emitraka creation_date: 2015-02-09T15:32:25Z [Term] id: DOID:0060301 name: type I complement component 8 deficiency def: "A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes." [url:https\://ghr.nlm.nih.gov/condition/complement-component-8-deficiency] comment: NT MGI. subset: DO_rare_slim xref: ICD10CM:D84.1 xref: MIM:613790 xref: ORDO:169150 is_a: DOID:626 ! complement deficiency created_by: emitraka creation_date: 2015-02-09T15:32:25Z [Term] id: DOID:0060302 name: type II complement component 8 deficiency def: "A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes." [url:https\://ghr.nlm.nih.gov/condition/complement-component-8-deficiency] comment: NT MGI. subset: DO_rare_slim xref: ICD10CM:D84.1 xref: MIM:613789 xref: ORDO:169150 is_a: DOID:626 ! complement deficiency created_by: emitraka creation_date: 2015-02-09T15:32:25Z [Term] id: DOID:0060303 name: complement component 9 deficiency def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene." [url:https\://www.omim.org/entry/613825] comment: NT MGI. subset: DO_rare_slim xref: ICD10CM:D84.1 xref: MIM:613825 xref: ORDO:169150 is_a: DOID:626 ! complement deficiency created_by: emitraka creation_date: 2015-02-09T15:32:25Z [Term] id: DOID:0060304 name: dyschromatosis universalis hereditaria def: "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution." [url:http\://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria, url:https\://www.ncbi.nlm.nih.gov/pubmed/12372090] comment: NT MGI. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:1996 xref: MESH:C535730 xref: MIM:127500 xref: MIM:612715 xref: MIM:615402 xref: NCI:C173131 xref: ORDO:241 xref: UMLS_CUI:C2930995 is_a: DOID:10123 ! pigmentation disease created_by: emitraka creation_date: 2015-02-09T16:53:42Z [Term] id: DOID:0060305 name: megalocornea def: "A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene." [url:http\://en.wikipedia.org/wiki/Megalocornea, url:http\://ghr.nlm.nih.gov/gene/CHRDL1, url:https\://www.ncbi.nlm.nih.gov/pubmed/6849653] comment: NT MGI. subset: DO_rare_slim synonym: "anterior megalophthalmos" EXACT [] synonym: "congenital anterior megalophthalmia" EXACT [] xref: MIM:249300 xref: MIM:309300 xref: ORDO:91489 xref: SNOMEDCT_US_2023_03_01:204118005 xref: UMLS_CUI:C0344530 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10124 ! corneal disease created_by: emitraka creation_date: 2015-02-10T12:29:54Z [Term] id: DOID:0060306 name: Meier-Gorlin syndrome def: "A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation." [url:http\://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome, url:http\://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome, url:https\://medlineplus.gov/genetics/condition/meier-gorlin-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/37059840/, url:https\://www.ncbi.nlm.nih.gov/pubmed/14564153] comment: NT MGI. subset: DO_rare_slim synonym: "ear-patella-short stature syndrome" EXACT [] xref: GARD:2033 xref: MESH:C538012 xref: MIM:PS224690 xref: ORDO:2554 xref: SNOMEDCT_US_2023_03_01:703508009 xref: UMLS_CUI:C1868684 is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-02-10T12:40:39Z [Term] id: DOID:0060307 name: autosomal dominant intellectual developmental disorder def: "A intellectual disability characterized by an autosomal dominant inheritance pattern." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21124998] comment: NT MGI. subset: DO_rare_slim synonym: "autosomal dominant mental retardation" EXACT [] synonym: "autosomal dominant non-syndromic mental retardation" EXACT [] xref: GARD:12107 xref: MIM:PS156200 xref: ORDO:178469 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability created_by: emitraka creation_date: 2015-02-10T16:47:55Z [Term] id: DOID:0060308 name: autosomal recessive intellectual developmental disorder def: "A intellectual disability characterized by an autosomal recessive inheritance pattern." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21124998] comment: NT MGI. subset: DO_rare_slim synonym: "autosomal recessive mental retardation" EXACT [] synonym: "autosomal recessive non-syndromic mental retardation" EXACT [] xref: MIM:PS249500 xref: ORDO:88616 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability created_by: emitraka creation_date: 2015-02-11T10:32:11Z [Term] id: DOID:0060309 name: syndromic X-linked intellectual disability def: "A syndromic intellectual disability characterized by an X-linked inheritance pattern." [url:http\://en.wikipedia.org/wiki/X-linked_intellectual_disability] comment: NT MGI. synonym: "syndromic X-linked mental retardation" EXACT [] xref: MIM:PS309510 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050888 ! syndromic intellectual disability created_by: emitraka creation_date: 2015-02-11T16:14:46Z [Term] id: DOID:0060310 name: uvulitis def: "An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size." [url:http\://en.wikipedia.org/wiki/Palatine_uvula#Inflammation, url:https\://www.ncbi.nlm.nih.gov/pubmed/8285973] comment: PRISM. synonym: "acute uvulitis" EXACT [] xref: ICD10CM:K12.2 xref: MEDDRA:10051962 is_a: DOID:974 ! upper respiratory tract disease created_by: emitraka creation_date: 2015-02-16T13:26:27Z [Term] id: DOID:0060311 name: adenoid hypertrophy def: "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing." [url:http\://en.wikipedia.org/wiki/Adenoid_hypertrophy, url:http\://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001649.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/21126775] comment: PRISM. synonym: "adenoidal hypertrophy" EXACT [] synonym: "enlarged adenoids" EXACT [] xref: ICD10CM:J35.2 xref: ICD9CM:474.12 xref: MEDDRA:10001229 xref: SNOMEDCT_US_2023_03_01:111591002 xref: UMLS_CUI:C0149825 is_a: DOID:974 ! upper respiratory tract disease created_by: emitraka creation_date: 2015-02-16T13:35:56Z [Term] id: DOID:0060312 name: angular cheilitis def: "A cheilitis characterized by inflammation of one or both of the corners of the mouth." [url:http\://en.wikipedia.org/wiki/Angular_cheilitis] comment: PRISM. subset: NCIthesaurus synonym: "angular cheilosis" EXACT [] synonym: "angular stomatitis" EXACT [] synonym: "cheilosis" EXACT [] synonym: "commissural cheilitis" EXACT [] xref: ICD10CM:K13.0 xref: NCI:C112198 xref: SNOMEDCT_US_2023_03_01:200729007 xref: UMLS_CUI:C0221237 is_a: DOID:1762 ! cheilitis created_by: emitraka creation_date: 2015-02-19T15:57:00Z [Term] id: DOID:0060313 name: tracheomalacia def: "A tracheal disease characterized by flaccidity of the tracheal support cartilage." [url:http\://en.wikipedia.org/wiki/Tracheomalacia] comment: PRISM. subset: DO_rare_slim synonym: "congenital tracheomalacia" EXACT [] xref: ICD10CM:Q32.0 xref: MESH:C557675 xref: ORDO:95430 xref: SNOMEDCT_US_2023_03_01:95467005 xref: UMLS_CUI:C0392109 is_a: DOID:3225 ! tracheal disease created_by: emitraka creation_date: 2015-02-20T16:02:03Z [Term] id: DOID:0060314 name: persistent generalized lymphadenopathy def: "A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found." [url:http\://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy] comment: PRISM. synonym: "PGL" EXACT OMO:0003012 [] is_a: DOID:9942 ! lymph node disease created_by: emitraka creation_date: 2015-02-23T14:33:26Z [Term] id: DOID:0060315 name: oral hairy leukoplakia def: "A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus." [url:http\://en.wikipedia.org/wiki/Hairy_leukoplakia] subset: NCIthesaurus synonym: "hairy leukoplakia" EXACT [] xref: ICD10CM:K13.3 xref: MESH:D017733 xref: NCI:C3722 xref: SNOMEDCT_US_2023_03_01:58918007 xref: UMLS_CUI:C0206186 is_a: DOID:403 ! mouth disease created_by: emitraka creation_date: 2015-02-23T15:55:53Z [Term] id: DOID:0060316 name: orofaciodigital syndrome I def: "An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease." [url:http\://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1, url:https\://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance] subset: DO_rare_slim subset: NCIthesaurus synonym: "orofaciodigital syndrome 1" EXACT [] synonym: "orofaciodigital syndrome type I" EXACT [] synonym: "Papillon-Leage-Psaume syndrome" EXACT [] xref: ICD10CM:Q87.0 xref: MESH:D009958 xref: MIM:311200 xref: NCI:C75481 xref: ORDO:2750 xref: SNOMEDCT_US_2023_03_01:1779005 xref: SNOMEDCT_US_2023_03_01:403773005 xref: SNOMEDCT_US_2023_03_01:52868006 xref: UMLS_CUI:C0026363 xref: UMLS_CUI:C0029294 xref: UMLS_CUI:C1510460 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: emitraka creation_date: 2015-03-09T17:15:07Z [Term] id: DOID:0060317 name: lung abscess def: "A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid." [url:http\://en.wikipedia.org/wiki/Lung_abscess] subset: NCIthesaurus xref: ICD10CM:J85.2 xref: ICD9CM:513.0 xref: MESH:D008169 xref: NCI:C99090 xref: SNOMEDCT_US_2023_03_01:155618005 xref: UMLS_CUI:C0024110 is_a: DOID:850 ! lung disease created_by: emitraka creation_date: 2015-02-23T16:58:49Z [Term] id: DOID:0060318 name: acute promyelocytic leukemia def: "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17." [url:http\://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia, url:http\://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "acute myeloblastic leukaemia type 3" EXACT [] synonym: "acute myeloblastic leukemia type 3" EXACT [] synonym: "acute myeloid leukaemia M3" EXACT [] synonym: "acute myeloid leukemia M3" EXACT [] synonym: "acute promyelocytic leukaemia" EXACT [] xref: GARD:538 xref: ICD10CM:C92.4 xref: MESH:D015473 xref: MIM:612376 xref: NCI:C3182 xref: ORDO:520 xref: SNOMEDCT_US_2023_03_01:28950004 xref: UMLS_CUI:C0023487 is_a: DOID:9119 ! acute myeloid leukemia created_by: emitraka creation_date: 2015-02-24T16:50:50Z [Term] id: DOID:0060319 name: cardiac arrest def: "A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all." [url:http\://en.wikipedia.org/wiki/Cardiac_arrest, url:http\://www.nlm.nih.gov/medlineplus/cardiacarrest.html] subset: NCIthesaurus synonym: "cardiopulmonary arrest" EXACT [] synonym: "circulatory arrest" EXACT [] xref: ICD10CM:I46 xref: ICD9CM:427.5 xref: MESH:D006323 xref: NCI:C50479 xref: NCI:C50483 xref: SNOMEDCT_US_2023_03_01:30298009 xref: UMLS_CUI:C0018790 xref: UMLS_CUI:C0600228 is_a: DOID:6000 ! congestive heart failure created_by: emitraka creation_date: 2015-02-25T15:12:30Z [Term] id: DOID:0060320 name: inguinal hernia def: "An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal." [url:http\://en.wikipedia.org/wiki/Inguinal_hernia] subset: NCIthesaurus xref: ICD10CM:K40 xref: ICD9CM:550 xref: MESH:D006552 xref: NCI:C34690 xref: NCI:C34691 xref: NCI:C34692 xref: SNOMEDCT_US_2023_03_01:155738001 xref: SNOMEDCT_US_2023_03_01:196800008 xref: UMLS_CUI:C0019294 xref: UMLS_CUI:C0019295 xref: UMLS_CUI:C0019296 is_a: DOID:5295 ! intestinal disease created_by: emitraka creation_date: 2015-02-25T15:54:50Z [Term] id: DOID:0060321 name: umbilical hernia def: "A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles." [url:http\://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630, url:https\://en.wikipedia.org/wiki/Umbilical_hernia] subset: NCIthesaurus xref: ICD10CM:Q79.2 xref: ICD9CM:756.72 xref: MESH:D006554 xref: NCI:C98997 xref: SNOMEDCT_US_2023_03_01:49324006 xref: SNOMEDCT_US_2023_03_01:5867007 xref: UMLS_CUI:C0795690 xref: UMLS_CUI:C1306503 is_a: DOID:5295 ! intestinal disease created_by: emitraka creation_date: 2015-02-25T15:58:35Z [Term] id: DOID:0060322 name: mastoiditis def: "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process." [url:http\://en.wikipedia.org/wiki/Mastoiditis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001034.htm] subset: NCIthesaurus xref: ICD10CM:H70.9 xref: ICD9CM:383.9 xref: MESH:D008417 xref: NCI:C128368 xref: SNOMEDCT_US_2023_03_01:155230007 xref: UMLS_CUI:C0024904 is_a: DOID:3342 ! bone inflammation disease is_a: DOID:5100 ! middle ear disease created_by: emitraka creation_date: 2015-02-25T16:29:09Z [Term] id: DOID:0060323 name: breast abscess def: "A breast disease characterized by a collection of pus in the breast." [url:http\://en.wikipedia.org/wiki/Mastitis#Breast_abscess] is_a: DOID:3463 ! breast disease created_by: emitraka creation_date: 2015-02-25T17:21:01Z [Term] id: DOID:0060324 name: dental abscess def: "A tooth disease characterized by a localized collection of pus associated with a tooth." [url:http\://en.wikipedia.org/wiki/Dental_abscess] xref: ICD10CM:K04.6 is_a: DOID:1091 ! tooth disease created_by: emitraka creation_date: 2015-02-25T17:25:03Z [Term] id: DOID:0060325 name: cervical polyp def: "A cervix disease characterized by a benign polyp on the surface of the cervical canal." [url:http\://en.wikipedia.org/wiki/Cervical_polyp] xref: ICD10CM:D26.9 xref: ICD9CM:219 xref: SNOMEDCT_US_2023_03_01:189107007 xref: UMLS_CUI:C0153996 is_a: DOID:2253 ! cervix disease created_by: emitraka creation_date: 2015-02-25T17:33:54Z [Term] id: DOID:0060326 name: myelomeningocele def: "A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes." [url:http\://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001558.htm] subset: NCIthesaurus xref: ICD10CM:Q05 xref: MESH:D008591 xref: NCI:C101201 xref: NCI:C98874 xref: SNOMEDCT_US_2023_03_01:268308005 xref: SNOMEDCT_US_2023_03_01:7096005 xref: UMLS_CUI:C0025312 xref: UMLS_CUI:C0086664 xref: UMLS_CUI:C0751316 is_a: DOID:0080016 ! spina bifida is_a: DOID:319 ! spinal cord disease created_by: emitraka creation_date: 2015-02-25T17:47:25Z [Term] id: DOID:0060327 name: omphalocele def: "A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac." [url:http\://en.wikipedia.org/wiki/Omphalocele, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000994.htm] subset: NCIthesaurus synonym: "exomphalos" EXACT [] synonym: "omphalocoele" EXACT [] xref: ICD10CM:Q79.2 xref: ICD9CM:756.72 xref: MESH:D006554 xref: MIM:164750 xref: NCI:C98997 xref: SNOMEDCT_US_2023_03_01:49324006 xref: SNOMEDCT_US_2023_03_01:5867007 xref: UMLS_CUI:C0795690 xref: UMLS_CUI:C1306503 is_a: DOID:0080015 ! physical disorder created_by: emitraka creation_date: 2015-02-25T17:54:05Z [Term] id: DOID:0060328 name: anal fistula def: "An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin." [url:http\://en.wikipedia.org/wiki/Anal_fistula] xref: ICD10CM:K60.3 xref: MESH:D012003 is_a: DOID:1285 ! rectal disease created_by: elvira creation_date: 2015-02-25T19:05:13Z [Term] id: DOID:0060329 name: ectopic pregnancy def: "A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity." [url:http\://en.wikipedia.org/wiki/Ectopic_pregnancy, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000895.htm] subset: DO_rare_slim subset: NCIthesaurus synonym: "eccyesis" EXACT [] xref: GARD:6318 xref: ICD10CM:O00 xref: ICD9CM:633 xref: MESH:D011271 xref: NCI:C34945 xref: SNOMEDCT_US_2023_03_01:156080003 xref: UMLS_CUI:C0032987 is_a: DOID:229 ! female reproductive system disease created_by: elvira creation_date: 2015-02-25T19:27:50Z [Term] id: DOID:0060330 name: Rapp-Hodgkin syndrome def: "An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate." [url:http\://rarediseases.info.nih.gov/gard/5690/rapp-hodgkin-syndrome/resources/1] comment: Part of AEC spectrum. Research more. subset: DO_rare_slim synonym: "anhidrotic ectodermal dysplasia with cleft lip/palate" EXACT [] synonym: "ectodermal dysplasia syndrome, Rapp-Hodgkin type" EXACT [] synonym: "ectodermal dysplasia, Rapp-Hodgkin type" EXACT [] synonym: "RHS" EXACT OMO:0003012 [] xref: GARD:5690 xref: MESH:C535289 xref: MIM:129400 xref: ORDO:3022 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia created_by: emitraka creation_date: 2015-03-12T13:47:30Z [Term] id: DOID:0060331 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 2 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21." [url:http\://omim.org/entry/614052] subset: DO_rare_slim synonym: "MC5DN2" EXACT OMO:0003012 [] synonym: "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency" EXACT [] xref: GARD:12965 xref: MIM:614052 xref: ORDO:1194 xref: SNOMEDCT_US_2023_03_01:718212006 xref: UMLS_CUI:C4273660 is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency created_by: emitraka creation_date: 2015-03-12T16:04:59Z [Term] id: DOID:0060332 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 3 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13." [url:https\://pubmed.ncbi.nlm.nih.gov/20566710/] subset: DO_rare_slim synonym: "MC5DN3" EXACT OMO:0003012 [] xref: MIM:614053 is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency created_by: emitraka creation_date: 2015-03-12T16:04:59Z [Term] id: DOID:0060333 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1." [url:https\://pubmed.ncbi.nlm.nih.gov/23599390/, url:https\://pubmed.ncbi.nlm.nih.gov/34954817/] subset: DO_rare_slim synonym: "MC5DN4" EXACT OMO:0003012 [] is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency created_by: emitraka creation_date: 2015-03-12T16:04:59Z [Term] id: DOID:0060334 name: transient neonatal diabetes mellitus def: "A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients." [url:http\://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus, url:https\://www.ncbi.nlm.nih.gov/pubmed/17349054] subset: DO_rare_slim xref: GARD:1839 xref: ICD10CM:P70.2 xref: MIM:601410 xref: MIM:610374 xref: MIM:610582 xref: ORDO:99886 is_a: DOID:11717 ! neonatal diabetes created_by: emitraka creation_date: 2015-03-12T16:59:58Z [Term] id: DOID:0060335 name: autosomal dominant sideroblastic anemia 4 def: "A sideroblastic anemia characterized by an autosomal dominant inheritance pattern." [url:http\://en.wikipedia.org/wiki/Sideroblastic_anemia] xref: MIM:182170 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:8955 ! sideroblastic anemia created_by: emitraka creation_date: 2015-04-16T10:44:34Z [Term] id: DOID:0060336 name: 3-methylglutaconic aciduria def: "An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine." [url:https\://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria] subset: DO_rare_slim xref: ICD10CM:E71.111 xref: MESH:C579867 xref: MIM:PS250950 xref: ORDO:289902 is_a: DOID:0060159 ! organic acidemia created_by: emitraka creation_date: 2015-04-16T10:50:48Z [Term] id: DOID:0060337 name: CEDNIK syndrome def: "A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21073448] comment: Flybase. subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" EXACT [] xref: MESH:C537943 xref: MIM:609528 xref: ORDO:66631 xref: SNOMEDCT_US_2023_03_01:722385008 xref: UMLS_CUI:C1836033 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-05-11T10:31:37Z [Term] id: DOID:0060338 name: parameningeal embryonal rhabdomyosarcoma def: "An embryonal rhabdomyosarcoma located in the parameningeal region." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10717216, url:https\://www.ncbi.nlm.nih.gov/pubmed/23021437] is_a: DOID:3246 ! embryonal rhabdomyosarcoma created_by: emitraka creation_date: 2015-05-14T14:32:27Z [Term] id: DOID:0060339 name: chronic atrial and intestinal dysrhythmia def: "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25282101] synonym: "CAID syndrome" EXACT [] xref: MIM:616201 is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-05-18T15:37:53Z [Term] id: DOID:0060340 name: ciliopathy def: "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia." [url:http\://en.wikipedia.org/wiki/Ciliopathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/18178628, url:https\://www.ncbi.nlm.nih.gov/pubmed/21210154] is_a: DOID:0050177 ! monogenic disease is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-05-21T10:41:29Z [Term] id: DOID:0060341 name: agnathia-otocephaly complex def: "A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17438667] subset: DO_rare_slim synonym: "agnathia-holoprosencephaly-situs inversus syndrome" EXACT [] synonym: "dysgnathia complex agnathia-holoprosencephaly" EXACT [] synonym: "holoprosencephaly-agnathia" EXACT [] synonym: "otocephaly" EXACT [] xref: ICD10CM:Q18.2 xref: MESH:C562503 xref: MIM:202650 xref: ORDO:990 is_a: DOID:0080015 ! physical disorder created_by: emitraka creation_date: 2015-05-26T16:14:08Z [Term] id: DOID:0060342 name: acromelic frontonasal dysostosis def: "A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15264282] subset: DO_rare_slim xref: GARD:5539 xref: MESH:C566345 xref: MIM:603671 xref: ORDO:1827 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1934 ! dysostosis created_by: emitraka creation_date: 2015-05-26T16:44:46Z [Term] id: DOID:0060343 name: glucocorticoid-induced osteoporosis def: "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17566815, url:https\://www.ncbi.nlm.nih.gov/pubmed/22870429] synonym: "steroid-induced osteoporosis" EXACT [] is_a: DOID:11476 ! osteoporosis created_by: emitraka creation_date: 2015-05-27T17:07:43Z [Term] id: DOID:0060344 name: acrodermatitis chronica atrophicans def: "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." [url:http\://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans, url:http\://www.dermis.net/dermisroot/en/35111/diagnose.htm] subset: GOLD synonym: "Herxheimer disease" EXACT [] synonym: "primary diffuse atrophy" EXACT [] xref: ICD9CM:701.8 xref: SNOMEDCT_US_2023_03_01:201088002 xref: UMLS_CUI:C0029805 is_a: DOID:2722 ! acrodermatitis created_by: emitraka creation_date: 2015-05-28T14:45:56Z [Term] id: DOID:0060345 name: bacillary angiomatosis def: "A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs." [url:http\://en.wikipedia.org/wiki/Bacillary_angiomatosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/9407154] subset: DO_infectious_disease_slim subset: GOLD subset: NCIthesaurus xref: MESH:D016917 xref: NCI:C3477 xref: SNOMEDCT_US_2023_03_01:58213005 xref: UMLS_CUI:C0085434 is_a: DOID:11102 ! bartonellosis created_by: emitraka creation_date: 2015-05-28T16:26:12Z [Term] id: DOID:0060346 name: Native American myopathy def: "A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18553514] subset: DO_rare_slim synonym: "Bailey-Bloch congenital myopathy" EXACT [] synonym: "congenital myopathy 13" EXACT [] xref: GARD:8432 xref: MESH:C538343 xref: MIM:255995 xref: ORDO:168572 xref: SNOMEDCT_US_2023_03_01:723439002 xref: UMLS_CUI:C1850625 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: emitraka creation_date: 2015-06-01T17:47:31Z [Term] id: DOID:0060347 name: acrorenal syndrome def: "A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26019842] xref: MESH:C563159 xref: MIM:102520 xref: MIM:201310 xref: SNOMEDCT_US_2023_03_01:720458005 xref: UMLS_CUI:C3495490 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: emitraka creation_date: 2015-06-04T14:51:42Z [Term] id: DOID:0060348 name: hypoparathyroidism-retardation-dysmorphism syndrome def: "A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15645691, url:https\://www.ncbi.nlm.nih.gov/pubmed/24339556] subset: DO_rare_slim subset: NCIthesaurus synonym: "HRD syndrome" EXACT [] synonym: "hypoparathyroidism with short stature, mental retardation and seizures" EXACT [] synonym: "Sanjad-Sakati syndrome" EXACT [] xref: GARD:411 xref: MESH:C537157 xref: MIM:241410 xref: NCI:C133727 xref: ORDO:2323 xref: SNOMEDCT_US_2023_03_01:1197148005 xref: UMLS_CUI:C1855840 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: elvira creation_date: 2015-06-19T20:05:16Z [Term] id: DOID:0060349 name: microcephaly with or without chorioretinopathy, lymphedema, or mental retardation def: "A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10482868, url:https\://www.ncbi.nlm.nih.gov/pubmed/11302131, url:https\://www.ncbi.nlm.nih.gov/pubmed/25124931, url:https\://www.ncbi.nlm.nih.gov/pubmed/5936364] subset: DO_rare_slim synonym: "chorioretinal dysplasia-microcephaly-mental retardation syndrome" EXACT [] synonym: "lymphedema and retinal folds with ficrocephaly and microphthalmos" EXACT [] synonym: "lymphedema, microcephaly and chorioretinopathy syndrome" EXACT [] synonym: "microcephaly lymphedema chorioretinal dysplasia" EXACT [] synonym: "microcephaly, lymphedema, chorioretinal dysplasia syndrome" EXACT [] xref: MESH:C537711 xref: MIM:152950 xref: ORDO:2526 xref: UMLS_CUI:C1835265 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome created_by: elvira creation_date: 2015-06-24T22:12:55Z [Term] id: DOID:0060350 name: adenine phosphoribosyltransferase deficiency def: "A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24." [url:http\://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency, url:https\://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency, url:https\://pubmed.ncbi.nlm.nih.gov/22700886/, url:https\://pubmed.ncbi.nlm.nih.gov/8864750/, url:https\://www.ncbi.nlm.nih.gov/pubmed/20150536] subset: DO_rare_slim subset: NCIthesaurus synonym: "2,8-dihydroxyadenine urolithiasis" EXACT [] synonym: "APRT deficiency" EXACT [] xref: GARD:10666 xref: GARD:546 xref: MESH:C538228 xref: MIM:614723 xref: NCI:C121564 xref: SNOMEDCT_US_2023_03_01:11852004 xref: UMLS_CUI:C0268120 xref: UMLS_CUI:C3665382 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:653 ! purine-pyrimidine metabolic disorder created_by: elvira creation_date: 2015-07-02T16:06:22Z [Term] id: DOID:0060351 name: mitochondrial complex III deficiency nuclear type 2 def: "A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern." [url:http\://www.omim.org/entry/615157, url:https\://www.ncbi.nlm.nih.gov/pubmed/21278747] subset: DO_FlyBase_slim synonym: "MC3DN2" EXACT OMO:0003012 [] xref: MIM:615157 is_a: DOID:0111139 ! mitochondrial complex III deficiency created_by: elvira creation_date: 2015-07-14T16:24:56Z [Term] id: DOID:0060352 name: Kleefstra syndrome 1 alt_id: DOID:0070075 def: "A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region." [url:https\://en.wikipedia.org/wiki/9q34_deletion_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15264279, url:https\://www.ncbi.nlm.nih.gov/pubmed/16826528, url:https\://www.ncbi.nlm.nih.gov/pubmed/21245904] subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "9q subtelomeric deletion syndrome" EXACT [] synonym: "9q-syndrome" EXACT [] synonym: "9q34 deletion syndrome" EXACT [] xref: GARD:8672 xref: MESH:C563043 xref: MIM:610253 xref: NCI:C129976 xref: ORDO:261494 xref: UMLS_CUI:C0795833 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:0080597 ! Kleefstra syndrome created_by: elvira creation_date: 2015-07-14T16:49:09Z [Term] id: DOID:0060353 name: acrofacial dysostosis Cincinnati type def: "An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25913037] xref: MIM:616462 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060379 ! acrofacial dysostosis created_by: elvira creation_date: 2015-07-15T16:37:59Z [Term] id: DOID:0060354 name: Stormorken syndrome def: "A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern." [url:http\://ghr.nlm.nih.gov/condition/stormorken-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/24619930, url:https\://www.ncbi.nlm.nih.gov/pubmed/25577287] subset: DO_rare_slim synonym: "thrombocytopathy, asplenia and miosis" EXACT [] xref: MESH:C566108 xref: MIM:185070 xref: ORDO:3204 xref: SNOMEDCT_US_2023_03_01:711407000 xref: UMLS_CUI:C1861451 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2218 ! blood platelet disease created_by: elvira creation_date: 2015-07-16T16:30:32Z [Term] id: DOID:0060355 name: amyotrophic lateral sclerosis type 22 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35." [url:http\://omim.org/entry/616208] subset: DO_rare_slim synonym: "ALS22" EXACT OMO:0003012 [] synonym: "amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia" EXACT [] synonym: "amyotrophic lateral sclerosis 22" EXACT [] xref: MIM:616208 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: elvira creation_date: 2015-07-22T11:37:41Z [Term] id: DOID:0060356 name: Vici syndrome def: "A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3." [url:https\://en.wikipedia.org/wiki/Vici_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/21965116, url:https\://www.ncbi.nlm.nih.gov/pubmed/23222957] subset: DO_rare_slim subset: NCIthesaurus synonym: "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum" EXACT [] xref: GARD:448 xref: MESH:C535566 xref: MIM:242840 xref: NCI:C138174 xref: ORDO:1493 xref: SNOMEDCT_US_2023_03_01:719824001 xref: UMLS_CUI:C1855772 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: elvira creation_date: 2015-08-19T16:22:27Z [Term] id: DOID:0060357 name: chylomicron retention disease def: "A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1." [url:https\://en.wikipedia.org/wiki/Chylomicron_retention_disease, url:https\://www.ncbi.nlm.nih.gov/pubmed/10521380, url:https\://www.ncbi.nlm.nih.gov/pubmed/20920215, url:https\://www.ncbi.nlm.nih.gov/pubmed/3430059, url:https\://www.ncbi.nlm.nih.gov/pubmed/3792776] subset: DO_rare_slim synonym: "Anderson disease" EXACT [] synonym: "CMRD" EXACT OMO:0003012 [] xref: GARD:9683 xref: ICD10CM:E78.3 xref: MESH:C535460 xref: MIM:246700 xref: ORDO:71 xref: SNOMEDCT_US_2023_03_01:702364003 xref: UMLS_CUI:C0795956 is_a: DOID:3146 ! lipid metabolism disorder created_by: elvira creation_date: 2015-08-20T12:44:44Z [Term] id: DOID:0060358 name: multiple acyl-CoA dehydrogenase deficiency def: "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal." [url:http\://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii, url:https\://en.wikipedia.org/wiki/Glutaric_acidemia_type_2, url:https\://www.ncbi.nlm.nih.gov/pubmed/12815589, url:https\://www.ncbi.nlm.nih.gov/pubmed/22580358] subset: DO_rare_slim subset: NCIthesaurus synonym: "electron transfer flavoprotein deficiency" EXACT [] synonym: "electron transfer flavoprotein ubiquinone oxidoreductase deficiency" EXACT [] synonym: "glutaric acidemia type 2" EXACT [] synonym: "glutaric aciduria type 2" EXACT [] synonym: "MAD deficiency" EXACT [] synonym: "MADD" EXACT OMO:0003012 [] xref: ICD10CM:E71.313 xref: MESH:D054069 xref: MIM:231680 xref: NCI:C84907 xref: ORDO:26791 xref: SNOMEDCT_US_2023_03_01:22886006 xref: UMLS_CUI:C0268596 xref: UMLS_CUI:C1856401 xref: UMLS_CUI:C1856403 xref: UMLS_CUI:C1856405 is_a: DOID:655 ! inherited metabolic disorder created_by: elvira creation_date: 2015-08-20T16:23:47Z [Term] id: DOID:0060359 name: Sakati-Nyhan syndrome def: "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections." [url:https\://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome] subset: DO_rare_slim synonym: "ACPS with leg hypoplasia" EXACT [] synonym: "acrocephalopolysyndactyly type 3" EXACT [] synonym: "acrocephalopolysyndactyly Type III" EXACT [] synonym: "Sakati syndrome" EXACT [] synonym: "Sakati-Nyhan-Tisdale syndrome" EXACT [] xref: GARD:115 xref: ICD10CM:Q87.0 xref: MESH:C537227 xref: MIM:101120 xref: ORDO:3128 is_a: DOID:12960 ! acrocephalosyndactylia created_by: elvira creation_date: 2015-09-03T14:23:46Z [Term] id: DOID:0060360 name: hereditary papulotranslucent acrokeratoderma def: "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16409913] xref: MESH:C566323 xref: MIM:101840 is_a: DOID:869 ! cholesteatoma created_by: elvira creation_date: 2015-09-03T14:36:52Z [Term] id: DOID:0060361 name: punctate palmoplantar keratoderma def: "A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." [url:https\://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate] subset: DO_rare_slim synonym: "punctate keratosis palmoplantaris" RELATED [] synonym: "punctate palmoplantar hyperkeratosis" EXACT [] xref: ORDO:307967 xref: SNOMEDCT_US_2023_03_01:402773000 xref: UMLS_CUI:C1274216 is_a: DOID:3390 ! palmoplantar keratosis created_by: elvira creation_date: 2015-09-03T14:50:46Z [Term] id: DOID:0060362 name: punctate palmoplantar keratoderma type III def: "A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene." [url:https\://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i] subset: DO_rare_slim synonym: "acrokeratoelastoidosis of Costa" EXACT [] synonym: "punctate palmoplantar hyperkeratosis type 3" EXACT [] synonym: "punctate palmoplantar keratoderma type 3" EXACT [] xref: MESH:C535653 xref: MIM:101850 xref: ORDO:38 xref: SNOMEDCT_US_2023_03_01:111029001 xref: UMLS_CUI:C0545044 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060361 ! punctate palmoplantar keratoderma created_by: elvira creation_date: 2015-09-03T15:31:19Z [Term] id: DOID:0060363 name: glycerol kinase deficiency def: "An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21." [url:https\://en.wikipedia.org/wiki/Glycerol_kinase_deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/22427807] subset: DO_FlyBase_slim subset: DO_rare_slim xref: MIM:307030 xref: ORDO:408 xref: SNOMEDCT_US_2023_03_01:297256008 xref: UMLS_CUI:C0574108 is_a: DOID:655 ! inherited metabolic disorder created_by: elvira creation_date: 2015-09-17T15:45:20Z [Term] id: DOID:0060364 name: Galloway-Mowat syndrome 1 def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25." [url:https\://en.wikipedia.org/wiki/Galloway_Mowat_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/26123727/] subset: DO_rare_slim synonym: "autosomal recessive spinocerebellar ataxia 5" EXACT [] synonym: "Galloway syndrome" EXACT [] synonym: "microcephaly, hiatal hernia and nephrotic syndrome" EXACT [] synonym: "nephrosis-microcephaly syndrome" EXACT [] synonym: "nephrosis-neuronal dysmigration syndrome" EXACT [] synonym: "SCAR5" EXACT OMO:0003012 [] xref: MIM:251300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080694 ! Galloway-Mowat syndrome created_by: elvira creation_date: 2015-09-17T16:00:31Z [Term] id: DOID:0060365 name: mandibulofacial dysostosis with alopecia def: "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25772936] synonym: "MFDA" EXACT OMO:0003012 [] xref: MIM:616367 is_a: DOID:225 ! syndrome created_by: elvira creation_date: 2015-09-17T16:20:00Z [Term] id: DOID:0060366 name: Hennekam syndrome def: "A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients." [url:http\://ghr.nlm.nih.gov/condition/hennekam-syndrome, url:https\://en.wikipedia.org/wiki/Hennekam_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/14564208, url:https\://www.ncbi.nlm.nih.gov/pubmed/24870712, url:https\://www.ncbi.nlm.nih.gov/pubmed/2624276] subset: DO_rare_slim synonym: "Hennekam lymphangiectasia-lymphedema syndrome" EXACT [] synonym: "lymphedem-lymphangiectasia-intellectual disability syndrome" EXACT [] xref: GARD:3318 xref: MESH:C537255 xref: MIM:235510 xref: MIM:616006 xref: ORDO:2136 xref: SNOMEDCT_US_2023_03_01:234146006 xref: UMLS_CUI:C0340834 is_a: DOID:75 ! lymphatic system disease created_by: elvira creation_date: 2015-09-17T16:36:59Z [Term] id: DOID:0060367 name: Parkinson's disease 1 def: "A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1." [url:http\://www.omim.org/entry/168601, url:https\://www.ncbi.nlm.nih.gov/pubmed/22315721] subset: DO_rare_slim synonym: "autosomal dominant Parkinson disease 1" EXACT [] synonym: "autosomal dominant Parkinson's disease 1" EXACT [] xref: MIM:168601 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease created_by: elvira creation_date: 2015-09-17T16:48:14Z [Term] id: DOID:0060368 name: Parkinson's disease 2 def: "An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22315721] subset: DO_rare_slim synonym: "autosomal recessive juvenile Parkinson disease 2" EXACT [] synonym: "autosomal recessive juvenile Parkinson's disease 2" EXACT [] xref: MIM:600116 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease created_by: elvira creation_date: 2015-09-17T16:56:33Z [Term] id: DOID:0060369 name: Parkinson's disease 6 def: "An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22315721] subset: DO_rare_slim synonym: "autosomal recessive early-onset Parkinson disease 6" EXACT [] synonym: "autosomal recessive early-onset Parkinson's disease 6" EXACT [] synonym: "early-onset Parkinson disease 6" EXACT [] synonym: "PARK6" EXACT OMO:0003012 [] xref: MIM:605909 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease is_a: DOID:0080578 ! digenic disease created_by: elvira creation_date: 2015-09-17T17:00:11Z [Term] id: DOID:0060370 name: Parkinson's disease 7 def: "An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22315721] subset: DO_rare_slim synonym: "autosomal recessive early-onset Parkinson disease 7" EXACT [] synonym: "autosomal recessive early-onset Parkinson's disease 7" EXACT [] xref: MIM:606324 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease created_by: elvira creation_date: 2015-09-17T17:04:57Z [Term] id: DOID:0060371 name: Parkinson's disease 8 def: "A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22315721] subset: DO_rare_slim synonym: "autosomal dominant Parkinson disease 8" EXACT [] synonym: "autosomal dominant Parkinson's disease 8" EXACT [] xref: MIM:607060 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease created_by: elvira creation_date: 2015-09-17T17:07:35Z [Term] id: DOID:0060372 name: Parkinson's disease 15 def: "An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22315721] subset: DO_rare_slim synonym: "autosomal recessive early-onset Parkinson disease 15" EXACT [] synonym: "autosomal recessive early-onset Parkinson's disease 15" EXACT [] synonym: "pallidopyramidal syndrome" EXACT [] synonym: "Parkinsonian-pyramidal syndrome" EXACT [] xref: MIM:260300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease created_by: elvira creation_date: 2015-09-17T17:13:37Z [Term] id: DOID:0060373 name: orofaciodigital syndrome III def: "An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance." [url:https\://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3] subset: DO_rare_slim synonym: "Sugarman syndrome" EXACT [] xref: MESH:C557817 xref: MIM:258850 xref: ORDO:2752 xref: SNOMEDCT_US_2023_03_01:239030004 xref: UMLS_CUI:C0406726 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: elvira creation_date: 2015-09-18T14:58:32Z [Term] id: DOID:0060374 name: orofaciodigital syndrome IV def: "An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene." [url:https\://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4] subset: DO_rare_slim synonym: "Baraitser-Burn syndrome" EXACT [] synonym: "OFD4" EXACT OMO:0003012 [] xref: MESH:C537133 xref: MIM:258860 xref: ORDO:2753 xref: SNOMEDCT_US_2023_03_01:239031000 xref: UMLS_CUI:C0406727 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: elvira creation_date: 2015-09-18T15:00:19Z [Term] id: DOID:0060375 name: orofaciodigital syndrome V def: "An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32." [url:https\://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5, url:https\://www.ncbi.nlm.nih.gov/pubmed/23972372] subset: DO_rare_slim synonym: "OFD5" EXACT OMO:0003012 [] synonym: "orofaciodigital syndrome Thurston type" EXACT [] synonym: "polydactyly, postaxial, with median cleft of upper lip" EXACT [] xref: MESH:C557819 xref: MIM:174300 xref: ORDO:2919 xref: SNOMEDCT_US_2023_03_01:722105002 xref: UMLS_CUI:C1868118 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: elvira creation_date: 2015-09-18T15:00:19Z [Term] id: DOID:0060376 name: Joubert syndrome with orofaciodigital defect def: "A Joubert syndrome that is characterized by orofaciodigital defect." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23716954] subset: DO_rare_slim subset: NCIthesaurus synonym: "OFD6" EXACT OMO:0003012 [] synonym: "orofaciodigital syndrome VI" EXACT [] synonym: "Polydactyly cleft lip palate psychomotor retardation" EXACT [] synonym: "Varadi syndrome" EXACT [] synonym: "Varadi-Papp syndrome" EXACT [] xref: GARD:4412 xref: MESH:C536531 xref: MIM:277170 xref: NCI:C124841 xref: ORDO:2754 xref: SNOMEDCT_US_2023_03_01:721873007 xref: UMLS_CUI:C2745997 is_a: DOID:0050777 ! Joubert syndrome disjoint_from: DOID:0110980 ! Joubert syndrome 1 created_by: elvira creation_date: 2015-09-18T15:00:19Z [Term] id: DOID:0060377 name: orofaciodigital syndrome VII def: "An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance." [url:https\://pubmed.ncbi.nlm.nih.gov/14598343/] subset: DO_rare_slim synonym: "OFD7" EXACT OMO:0003012 [] synonym: "Whelan syndrome" EXACT [] xref: MESH:C563104 xref: MIM:608518 xref: ORDO:90649 is_a: DOID:4501 ! orofaciodigital syndrome created_by: elvira creation_date: 2015-09-18T15:00:19Z [Term] id: DOID:0060378 name: orofaciodigital syndrome VIII def: "An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance." [url:https\://rarediseases.info.nih.gov/diseases/4060/orofaciodigital-syndrome-8] subset: DO_rare_slim synonym: "OFD8" EXACT OMO:0003012 [] xref: MESH:C557820 xref: MIM:300484 xref: ORDO:2755 xref: SNOMEDCT_US_2023_03_01:722106001 xref: UMLS_CUI:C0796101 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: elvira creation_date: 2015-09-18T15:00:19Z [Term] id: DOID:0060379 name: acrofacial dysostosis def: "A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene." [url:https\://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis] is_a: DOID:1934 ! dysostosis created_by: elvira creation_date: 2015-09-21T15:24:28Z [Term] id: DOID:0060380 name: orofaciodigital syndrome X def: "An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones." [url:https\://pubmed.ncbi.nlm.nih.gov/8261648/] subset: DO_rare_slim synonym: "OFD10" EXACT OMO:0003012 [] synonym: "orofaciodigital syndrome with fibular aplasia" EXACT [] xref: ICD10CM:Q87.0 xref: MESH:C563491 xref: MIM:165590 xref: ORDO:2756 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: elvira creation_date: 2015-09-18T15:00:20Z [Term] id: DOID:0060381 name: orofaciodigital syndrome XI def: "An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects." [url:https\://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11] subset: DO_rare_slim xref: MESH:C557821 xref: MIM:612913 xref: ORDO:141000 xref: SNOMEDCT_US_2023_03_01:718681002 xref: UMLS_CUI:C2752048 is_a: DOID:4501 ! orofaciodigital syndrome created_by: elvira creation_date: 2015-09-18T15:00:20Z [Term] id: DOID:0060382 name: orofaciodigital syndrome IX def: "An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance." [url:https\://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9, url:https\://www.ncbi.nlm.nih.gov/pubmed/18000902] subset: DO_rare_slim synonym: "OFD9" EXACT OMO:0003012 [] synonym: "orofaciodigital syndrome with retinal abnormalities" EXACT [] xref: GARD:10520 xref: MESH:C557818 xref: MIM:258865 xref: ORDO:141007 xref: SNOMEDCT_US_2023_03_01:718680001 xref: UMLS_CUI:C0796102 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: elvira creation_date: 2015-09-18T15:24:17Z [Term] id: DOID:0060383 name: acrofacial dysostosis Rodriguez type def: "An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance." [url:https\://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type] subset: DO_rare_slim synonym: "acrofacial dysostosis, syndrome of Rodriguez" EXACT [] xref: GARD:496 xref: MESH:C538183 xref: MIM:201170 xref: ORDO:1788 xref: SNOMEDCT_US_2023_03_01:720430002 xref: UMLS_CUI:C1860119 is_a: DOID:0060379 ! acrofacial dysostosis created_by: elvira creation_date: 2015-09-21T15:30:41Z [Term] id: DOID:0060384 name: acrofacial dysostosis, Catania type def: "An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias." [url:https\://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type] subset: DO_rare_slim synonym: "Opitz Mollica Sorge syndrome" EXACT [] synonym: "Opitz-Caltabiano syndrome" EXACT [] xref: GARD:494 xref: MESH:C538182 xref: MIM:101805 xref: ORDO:1786 xref: SNOMEDCT_US_2023_03_01:720419000 xref: UMLS_CUI:C2931762 is_a: DOID:0060379 ! acrofacial dysostosis created_by: elvira creation_date: 2015-09-21T15:34:09Z [Term] id: DOID:0060385 name: acrofacial dysostosis, Patagonia type def: "An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance." [url:https\://pubmed.ncbi.nlm.nih.gov/9098488/] subset: DO_rare_slim xref: MESH:C538185 xref: MIM:601829 xref: ORDO:1787 xref: SNOMEDCT_US_2023_03_01:720429007 xref: UMLS_CUI:C1866168 is_a: DOID:0060379 ! acrofacial dysostosis created_by: elvira creation_date: 2015-09-21T15:38:31Z [Term] id: DOID:0060386 name: Chilblain lupus def: "A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene." [url:https\://www.omim.org/entry/610448] subset: DO_rare_slim xref: MESH:C535924 xref: MIM:610448 xref: MIM:614415 xref: ORDO:90280 xref: UMLS_CUI:C0024145 is_a: DOID:0050169 ! cutaneous lupus erythematosus created_by: elvira creation_date: 2015-09-22T17:10:37Z [Term] id: DOID:0060387 name: chondrodysplasia Blomstrand type def: "An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene." [url:https\://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type] subset: DO_rare_slim subset: NCIthesaurus synonym: "Blomstrand lethal chondrodysplasia" EXACT [] xref: GARD:914 xref: MESH:C537914 xref: MIM:215045 xref: NCI:C131420 xref: ORDO:50945 xref: UMLS_CUI:C1859148 is_a: DOID:2256 ! osteochondrodysplasia created_by: elvira creation_date: 2015-09-24T16:23:12Z [Term] id: DOID:0060388 name: chromosomal deletion syndrome def: "A chromosomal disease that has_material_basis_in partial deletion of chromosomes." [url:https\://en.wikipedia.org/wiki/Chromosomal_deletion_syndrome, url:https\://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome, url:https\://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/, url:https\://www.ncbi.nlm.nih.gov/books/NBK23758/] is_a: DOID:0080014 ! chromosomal disease created_by: elvira creation_date: 2015-09-28T15:48:41Z [Term] id: DOID:0060389 name: chromosome 10q23 deletion syndrome def: "A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2." [url:https\://pubmed.ncbi.nlm.nih.gov/21248748] xref: MESH:C567385 xref: MIM:612242 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T15:50:18Z [Term] id: DOID:0060390 name: distal 10q deletion syndrome def: "A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10." [url:https\://rarediseases.info.nih.gov/diseases/3711/chromosome-10q-deletion] subset: DO_rare_slim synonym: "chromosome 10q26 deletion syndrome" EXACT [] synonym: "distal monosomy 10q" EXACT [] synonym: "monosomy 10qter" EXACT [] synonym: "telomeric deletion 10q" EXACT [] synonym: "terminal chromosome 10q26 deletion syndrome" EXACT [] xref: ICD10CM:Q93.5 xref: MESH:C567182 xref: MIM:609625 xref: ORDO:96148 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T16:08:42Z [Term] id: DOID:0060391 name: chromosome 13q14 deletion syndrome def: "A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13." [url:https\://rarediseases.org/rare-diseases/chromosome-13-partial-monosomy-13q/] subset: DO_rare_slim synonym: "deletion 13q14" EXACT [] xref: ICD10CM:Q93.5 xref: MIM:613884 xref: ORDO:1587 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T16:14:46Z [Term] id: DOID:0060392 name: chromosome 14q11-q22 deletion syndrome def: "A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14." [url:https\://pubmed.ncbi.nlm.nih.gov/21744488] subset: DO_rare_slim synonym: "14q11.2 microdeletion syndrome" EXACT [] xref: MIM:613457 xref: ORDO:261120 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T16:18:44Z [Term] id: DOID:0060393 name: chromosome 15q11.2 deletion syndrome def: "A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15." [url:https\://www.omim.org/entry/615656] subset: DO_rare_slim synonym: "15q11.2 microdeletion syndrome" EXACT [] xref: MIM:615656 xref: ORDO:261183 xref: UMLS_CUI:C3180937 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T16:21:07Z [Term] id: DOID:0060394 name: chromosome 15q13.3 microdeletion syndrome def: "A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15." [url:https\://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome] subset: DO_rare_slim synonym: "15q13.3 microdeletion syndrome" EXACT [] xref: GARD:10296 xref: ICD10CM:Q93.5 xref: MESH:C567439 xref: MIM:612001 xref: ORDO:199318 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T16:23:21Z [Term] id: DOID:0060395 name: chromosome 15q24 deletion syndrome def: "A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15." [url:https\://www.omim.org/entry/613406] subset: DO_rare_slim synonym: "15q24 microdeletion syndrome" EXACT [] xref: GARD:12219 xref: ICD10CM:Q93.5 xref: MESH:C579849 xref: MIM:613406 xref: ORDO:94065 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T16:25:55Z [Term] id: DOID:0060396 name: chromosome 15q25 deletion syndrome def: "A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15." [url:https\://rarediseases.info.nih.gov/diseases/10990/chromosome-15q252-microdeletion] xref: MIM:614294 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T16:28:12Z [Term] id: DOID:0060397 name: chromosome 15q26-qter deletion syndrome def: "A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia." [url:https\://pubmed.ncbi.nlm.nih.gov/18651844] subset: DO_rare_slim synonym: "15q26 deletion syndrome" EXACT [] synonym: "distal 15q deletion syndrome" EXACT [] synonym: "distal monosomy 15q" EXACT [] synonym: "Drayer syndrome" EXACT [] synonym: "telomeric 15q deletion syndrome" EXACT [] xref: ICD10CM:Q93.5 xref: MESH:C567232 xref: MIM:612626 xref: ORDO:1596 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T16:30:51Z [Term] id: DOID:0060398 name: chromosome 16p11.2 deletion syndrome, 220-kb def: "A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/20808231] subset: DO_rare_slim synonym: "distal 16p11.2 microdeletion syndrome" EXACT [] xref: MIM:613444 xref: ORDO:261222 xref: UMLS_CUI:C3150701 xref: UMLS_CUI:C4518824 is_a: DOID:0060388 ! chromosomal deletion syndrome property_value: broadMatch "ICD10CM:Q93.5" xsd:string property_value: exactMatch "MIM:613444" xsd:string property_value: exactMatch "ORDO:261222" xsd:string property_value: exactMatch "UMLS_CUI:C3150701" xsd:string property_value: exactMatch "UMLS_CUI:C4518824" xsd:string created_by: elvira creation_date: 2015-09-28T16:35:34Z [Term] id: DOID:0060399 name: chromosome 16p12.1 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20154674] xref: MIM:136570 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T16:36:57Z [Term] id: DOID:0060400 name: chromosome 16p12.2-p11.2 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment." [url:https\://pubmed.ncbi.nlm.nih.gov/19449418] subset: DO_rare_slim synonym: "16p11.2-p12.2 microdeletion syndrome" EXACT [] synonym: "16p11.2p12.2 microdeletion syndrome" EXACT [] xref: ICD10CM:Q93.5 xref: MIM:613604 xref: ORDO:261211 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T16:42:38Z [Term] id: DOID:0060401 name: chromosome 16q22 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1605249] xref: MIM:614541 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T16:46:03Z [Term] id: DOID:0060402 name: chromosome 17p13.1 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline." [url:https\://pubmed.ncbi.nlm.nih.gov/19617690] subset: DO_rare_slim xref: GARD:10996 xref: MESH:D054221 xref: MIM:613776 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T16:49:53Z [Term] id: DOID:0060403 name: chromosome 17q11.2 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/10631140/] subset: DO_rare_slim synonym: "17q11 microdeletion syndrome" EXACT [] synonym: "neurofibromatosis type 1 microdeletion syndrome" EXACT [] synonym: "NF1 microdeletion syndrome" EXACT [] synonym: "Van Asperen syndrome" EXACT [] xref: ICD10CM:Q85.0 xref: MESH:C563524 xref: MIM:613675 xref: ORDO:97685 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T16:52:05Z [Term] id: DOID:0060404 name: chromosome 17q12 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder." [url:https\://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome] subset: DO_rare_slim synonym: "17q12 microdeletion syndrome" EXACT [] xref: GARD:13297 xref: ICD10CM:Q93.5 xref: MIM:614527 xref: ORDO:261265 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T16:55:38Z [Term] id: DOID:0060405 name: chromosome 17q23.1-q23.2 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." [url:https\://pubmed.ncbi.nlm.nih.gov/20598276] subset: DO_rare_slim synonym: "17q23.1-q23.2 microdeletion syndrome" EXACT [] synonym: "17q23.1q23.2 microdeletion syndrome" EXACT [] xref: GARD:10936 xref: ICD10CM:Q93.5 xref: MIM:613355 xref: ORDO:261279 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T16:58:27Z [Term] id: DOID:0060406 name: chromosome 18p deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18." [url:https\://pubmed.ncbi.nlm.nih.gov/16691587] subset: DO_rare_slim subset: NCIthesaurus synonym: "18p- syndrome" EXACT [] synonym: "De Grouchy syndrome" EXACT [] synonym: "monosomy 18p" EXACT [] xref: GARD:8631 xref: MESH:C538309 xref: MIM:146390 xref: NCI:C84521 xref: ORDO:1598 xref: SNOMEDCT_US_2023_03_01:205632001 xref: UMLS_CUI:C0432442 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:01:47Z [Term] id: DOID:0060407 name: chromosome 18q deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations." [url:https\://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome, url:https\://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome] subset: DO_rare_slim synonym: "18q- syndrome" EXACT [] synonym: "deletion 18q" EXACT [] synonym: "monosomy 18q" EXACT [] xref: ICD10CM:Q93.5 xref: MESH:C536580 xref: MIM:601808 xref: ORDO:1600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:05:53Z [Term] id: DOID:0060408 name: chromosome 19q13.11 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties." [url:https\://pubmed.ncbi.nlm.nih.gov/24243649] subset: DO_rare_slim synonym: "19q13.11 microdeletion syndrome" EXACT [] synonym: "monosomy 19q13.11" EXACT [] xref: GARD:10592 xref: MESH:C567810 xref: MIM:613026 xref: ORDO:217346 xref: UMLS_CUI:C2751651 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:09:44Z [Term] id: DOID:0060409 name: NFIA-related disorder def: "A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia." [url:https\://www.ncbi.nlm.nih.gov/books/NBK542336/] subset: DO_rare_slim synonym: "1p31p32 microdeletion syndrome" EXACT [] synonym: "brain malformations with or without urinary tract defects" EXACT [] synonym: "Chromosome 1, Monosomy 1p32" EXACT [] synonym: "chromosome 1p32-p31 deletion syndrome" EXACT [] xref: ICD10CM:Q93.5 xref: MESH:C535594 xref: MIM:613735 xref: ORDO:401986 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:225 ! syndrome created_by: elvira creation_date: 2015-09-28T17:12:14Z [Term] id: DOID:0060410 name: chromosome 1p36 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears." [url:https\://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome] subset: DO_rare_slim subset: NCIthesaurus synonym: "1p36 deletion syndrome" EXACT [] synonym: "deletion 1p36" EXACT [] synonym: "monosomy 1p36" EXACT [] synonym: "subtelomeric 1p36 deletion" RELATED [] xref: GARD:6082 xref: MESH:C535362 xref: MIM:607872 xref: NCI:C74983 xref: ORDO:1606 xref: SNOMEDCT_US_2023_03_01:699306003 xref: UMLS_CUI:C1842870 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:14:10Z [Term] id: DOID:0060411 name: chromosome 1q21.1 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems." [url:https\://ghr.nlm.nih.gov/condition/1q211-microdeletion] subset: DO_rare_slim synonym: "1q21.1 microdeletion syndrome" EXACT [] synonym: "monosomy 1q21.1" RELATED [] xref: GARD:10813 xref: ICD10CM:Q93.5 xref: MIM:612474 xref: ORDO:250989 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:17:38Z [Term] id: DOID:0060412 name: chromosome 1q41-q42 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region." [url:https\://pubmed.ncbi.nlm.nih.gov/16736036/] subset: DO_rare_slim synonym: "1q41-q42 microdeletion syndrome" EXACT [] synonym: "1q41q42 microdeletion syndrome" EXACT [] xref: GARD:3738 xref: ICD10CM:Q93.5 xref: MIM:612530 xref: ORDO:250999 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:4621 ! holoprosencephaly created_by: elvira creation_date: 2015-09-28T17:24:43Z [Term] id: DOID:0060413 name: chromosome 22q11.2 deletion syndrome, distal def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome." [url:https\://pubmed.ncbi.nlm.nih.gov/18179902/, url:https\://research.nhgri.nih.gov/atlas/condition/22q11-2-deletion-syndrome] subset: DO_rare_slim synonym: "DiGeorge syndrome and Velocardiofacial syndrome" EXACT [] synonym: "distal 22q11.2 microdeletion syndrome" EXACT [] xref: MESH:C567511 xref: MIM:611867 xref: ORDO:261330 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:28:28Z [Term] id: DOID:0060414 name: chromosome 2p12-p11.2 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region." [url:https\://pubmed.ncbi.nlm.nih.gov/19764038/] xref: MIM:613564 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:31:12Z [Term] id: DOID:0060415 name: chromosome 2p16.1-p15 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate." [url:https\://pubmed.ncbi.nlm.nih.gov/26019277/] subset: DO_rare_slim synonym: "2p15-p16.1 microdeletion syndrome" RELATED [] synonym: "2p15p16.1 microdeletion syndrome" EXACT [] xref: GARD:13391 xref: ICD10CM:Q93.5 xref: MESH:C567289 xref: MIM:612513 xref: ORDO:261349 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:32:44Z [Term] id: DOID:0060416 name: chromosome 2q31.2 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region." [url:https\://pubmed.ncbi.nlm.nih.gov/19248183/] xref: MESH:C567344 xref: MIM:612345 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:36:55Z [Term] id: DOID:0060417 name: 3p deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia." [url:https\://ghr.nlm.nih.gov/condition/3p-deletion-syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/19760623] subset: DO_rare_slim synonym: "chromosome 3pter-P25 deletion syndrome" EXACT [] synonym: "distal monosomy 3p" EXACT [] xref: ICD10CM:Q93.5 xref: MIM:613792 xref: ORDO:1620 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:38:32Z [Term] id: DOID:0060418 name: chromosome 3q13.31 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia." [url:https\://pubmed.ncbi.nlm.nih.gov/22180640/] subset: DO_rare_slim synonym: "3q13 microdeletion syndrome" EXACT [] synonym: "monosomy 3q13" EXACT [] xref: MESH:C536808 xref: MIM:615433 xref: ORDO:1621 xref: SNOMEDCT_US_2023_03_01:726705007 xref: UMLS_CUI:C2931338 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:42:28Z [Term] id: DOID:0060419 name: chromosome 3q29 microdeletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region." [url:https\://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK385289/] subset: DO_rare_slim synonym: "3q subtelomere deletion syndrome" EXACT [] synonym: "3q29 microdeletion syndrome" EXACT [] synonym: "3q29 recurrent deletion" EXACT [] synonym: "3qter deletion" EXACT [] xref: GARD:11974 xref: MESH:C567184 xref: MIM:609425 xref: ORDO:65286 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:45:50Z [Term] id: DOID:0060420 name: chromosome 4q21 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region." [url:https\://pubmed.ncbi.nlm.nih.gov/20522426/] subset: DO_rare_slim synonym: "4q21 microdeletion syndrome" EXACT [] synonym: "monosomy 4q21" EXACT [] xref: MIM:613509 xref: ORDO:238750 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:49:18Z [Term] id: DOID:0060421 name: chromosome 5q12 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region." [url:https\://pubmed.ncbi.nlm.nih.gov/24203977/] xref: MIM:615668 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:52:47Z [Term] id: DOID:0060422 name: chromosome 6pter-p24 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region." [url:https\://pubmed.ncbi.nlm.nih.gov/18629875/] subset: DO_rare_slim synonym: "6p subtelomeric deletion syndrome" EXACT [] synonym: "6p25 microdeletion syndrome" EXACT [] synonym: "distal monosomy 6p" EXACT [] xref: ICD10CM:Q93.5 xref: MESH:C567239 xref: MIM:612582 xref: ORDO:96125 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:55:16Z [Term] id: DOID:0060423 name: chromosome 6q11-q14 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate." [url:https\://pubmed.ncbi.nlm.nih.gov/19213033/] xref: MIM:613544 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:58:28Z [Term] id: DOID:0060424 name: chromosome 6q24-q25 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region." [url:https\://pubmed.ncbi.nlm.nih.gov/17512813/] subset: DO_rare_slim synonym: "6q25 microdeletion syndrome" EXACT [] synonym: "monosomy 6q25" EXACT [] xref: MIM:612863 xref: ORDO:251056 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T17:59:36Z [Term] id: DOID:0060425 name: chromosome 8q21.11 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features." [url:https\://pubmed.ncbi.nlm.nih.gov/21802062/] subset: DO_rare_slim synonym: "8q21.11 microdeletion syndrome" EXACT [] xref: ICD10CM:Q93.5 xref: MIM:614230 xref: ORDO:284160 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-28T18:06:23Z [Term] id: DOID:0060426 name: chromosome 19p13.13 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity." [url:https\://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome] xref: MIM:613638 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-29T15:26:36Z [Term] id: DOID:0060427 name: chromosome Xp21 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region." [url:https\://pubmed.ncbi.nlm.nih.gov/17089405/] subset: DO_rare_slim synonym: "complex glycerol kinase deficiency" EXACT [] synonym: "monosomy Xp21" EXACT [] synonym: "Xp21 microdeletion syndrome" EXACT [] xref: ICD10CM:Q99.8 xref: MIM:300679 xref: ORDO:261476 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: elvira creation_date: 2015-09-29T16:13:28Z [Term] id: DOID:0060428 name: SATB2-associated syndrome def: "A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2." [url:https\://ghr.nlm.nih.gov/condition/satb2-associated-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK458647/] subset: DO_rare_slim synonym: "2q32-q33 microdeletion syndrome" EXACT [] synonym: "2q32q33 microdeletion syndrome" EXACT [] synonym: "chromosome 2q32-q33 deletion syndrome" EXACT [] synonym: "Glass syndrome" EXACT [] synonym: "monosomy 2q32" EXACT [] synonym: "monosomy 2q32-q33" EXACT [] synonym: "monosomy 2q32q33" EXACT [] xref: ICD10CM:Q93.5 xref: MESH:C567350 xref: MIM:612313 xref: ORDO:251019 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:225 ! syndrome created_by: elvira creation_date: 2015-10-01T15:37:11Z [Term] id: DOID:0060429 name: chromosomal duplication syndrome def: "A chromosomal disease that has_material_basis_in extra copies of a chromosomal region." [url:https\://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/] is_a: DOID:0080014 ! chromosomal disease created_by: elvira creation_date: 2015-10-02T15:19:23Z [Term] id: DOID:0060430 name: chromosome 16p11.2 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language." [url:https\://ghr.nlm.nih.gov/condition/16p112-duplication] subset: DO_rare_slim synonym: "proximal 16p11.2 microduplication syndrome" EXACT [] synonym: "proximal dup(16)(p11.2)" EXACT [] synonym: "proximal trisomy 16p11.2" EXACT [] xref: ICD10CM:Q92.3 xref: MIM:614671 xref: ORDO:370079 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: elvira creation_date: 2015-10-02T15:19:40Z [Term] id: DOID:0060431 name: chromosome 16p13.3 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region." [url:https\://pubmed.ncbi.nlm.nih.gov/19833603/] subset: DO_rare_slim synonym: "16p13.3 microduplication syndrome" EXACT [] synonym: "distal duplication 16p" EXACT [] synonym: "distal trisomy 16p" EXACT [] synonym: "telomeric duplication 16p" EXACT [] xref: ICD10CM:Q92.3 xref: MIM:613458 xref: ORDO:96078 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: elvira creation_date: 2015-10-02T15:43:05Z [Term] id: DOID:0060432 name: chromosome 17p13.3 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/19136950/] subset: DO_rare_slim synonym: "17p13.3 duplication syndrome" EXACT [] synonym: "17p13.3 microduplication syndrome" EXACT [] synonym: "chromosome 17p13.3 centromeric duplication syndrome" EXACT [] synonym: "trisomy 17p13.3" EXACT [] xref: ICD10CM:Q92.3 xref: MESH:C567705 xref: MIM:613215 xref: ORDO:217385 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: elvira creation_date: 2015-10-02T15:45:43Z [Term] id: DOID:0060433 name: chromosome 17q12 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region." [url:https\://ghr.nlm.nih.gov/condition/17q12-duplication, url:https\://www.ncbi.nlm.nih.gov/books/NBK344340/] subset: DO_rare_slim synonym: "17q12 microduplication syndrome" EXACT [] synonym: "trisomy 17q12" EXACT [] xref: GARD:13296 xref: ICD10CM:Q92.3 xref: MIM:614526 xref: ORDO:261272 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: elvira creation_date: 2015-10-02T15:49:05Z [Term] id: DOID:0060434 name: chromosome 17q21.31 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region." [url:https\://pubmed.ncbi.nlm.nih.gov/19502243/] subset: DO_rare_slim synonym: "17q21.31 microduplication syndrome" EXACT [] synonym: "trisomy 17q21.31" EXACT [] xref: ICD10CM:Q92.3 xref: MIM:613533 xref: ORDO:217340 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: elvira creation_date: 2015-10-02T15:50:26Z [Term] id: DOID:0060435 name: chromosome 1q21.1 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region." [url:https\://ghr.nlm.nih.gov/condition/1q211-microduplication] subset: DO_rare_slim synonym: "1q21.1 microduplication syndrome" EXACT [] synonym: "trisomy 1q21.1" EXACT [] xref: GARD:10591 xref: ICD10CM:Q92.3 xref: MESH:C567290 xref: MIM:612475 xref: ORDO:250994 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: elvira creation_date: 2015-10-02T16:58:42Z [Term] id: DOID:0060436 name: chromosome 22q11.2 microduplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region." [url:https\://ghr.nlm.nih.gov/condition/22q112-duplication] subset: DO_rare_slim synonym: "22q11.2 microduplication syndrome" EXACT [] synonym: "duplication 22q11.2" EXACT [] synonym: "trisomy 22q11.2" EXACT [] xref: ICD10CM:Q92.3 xref: MESH:C567224 xref: MIM:608363 xref: ORDO:1727 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: elvira creation_date: 2015-10-02T17:02:03Z [Term] id: DOID:0060437 name: chromosome 22q13 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/24153177/] xref: MIM:615538 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: elvira creation_date: 2015-10-02T17:11:03Z [Term] id: DOID:0060438 name: Cole-Carpenter syndrome def: "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10842295] subset: DO_rare_slim subset: NCIthesaurus xref: MESH:C535963 xref: MIM:112240 xref: MIM:616294 xref: NCI:C130985 xref: ORDO:2050 is_a: DOID:12347 ! osteogenesis imperfecta created_by: elvira creation_date: 2015-10-06T16:24:18Z [Term] id: DOID:0060439 name: lysinuric protein intolerance def: "An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11." [url:http\://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance, url:http\://www.ncbi.nlm.nih.gov/books/NBK1361/, url:https\://en.wikipedia.org/wiki/Lysinuric_protein_intolerance, url:https\://www.ncbi.nlm.nih.gov/pubmed/1155480] subset: DO_rare_slim subset: NCIthesaurus synonym: "dibasic amino aciduria II" EXACT [] synonym: "hyperdibasic aminoaciduria" EXACT [] synonym: "LPI" EXACT OMO:0003012 [] xref: GARD:3335 xref: MESH:C562687 xref: MIM:222700 xref: NCI:C121563 xref: ORDO:470 xref: SNOMEDCT_US_2023_03_01:13138006 xref: UMLS_CUI:C0268647 is_a: DOID:9252 ! amino acid metabolic disorder created_by: elvira creation_date: 2015-10-13T15:04:00Z [Term] id: DOID:0060440 name: epithelial and subepithelial dystrophy def: "A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19236704] is_a: DOID:2566 ! corneal dystrophy created_by: elvira creation_date: 2015-10-16T16:37:13Z [Term] id: DOID:0060441 name: epithelial-stromal TGFBI dystrophy def: "A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q." [url:https\://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm] is_a: DOID:2566 ! corneal dystrophy created_by: elvira creation_date: 2015-10-16T16:39:25Z [Term] id: DOID:0060442 name: stromal dystrophy def: "A corneal dystrophy that affects the corneal stroma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19236704] is_a: DOID:2566 ! corneal dystrophy created_by: elvira creation_date: 2015-10-16T16:39:25Z [Term] id: DOID:0060443 name: corneal endothelial dystrophy def: "A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19236704] synonym: "endothelial dystrophy" EXACT [] is_a: DOID:2566 ! corneal dystrophy created_by: elvira creation_date: 2015-10-16T16:39:25Z [Term] id: DOID:0060444 name: granular corneal dystrophy 2 def: "An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface." [url:https\://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm, url:https\://www.omim.org/entry/607541] subset: DO_rare_slim synonym: "avellino corneal dystrophy" EXACT [] synonym: "CGD2" EXACT OMO:0003012 [] synonym: "combined granular-lattice corneal dystrophy" EXACT [] synonym: "corneal dystrophy, Avellino type" EXACT [] synonym: "granular corneal dystrophy type 2" EXACT [] xref: MESH:C535474 xref: MIM:607541 xref: ORDO:98963 xref: SNOMEDCT_US_2023_03_01:397568004 xref: UMLS_CUI:C1275685 is_a: DOID:12318 ! granular corneal dystrophy created_by: elvira creation_date: 2015-10-16T16:44:27Z [Term] id: DOID:0060445 name: congenital stromal corneal dystrophy def: "A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth." [url:https\://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy, url:https\://www.ncbi.nlm.nih.gov/books/NBK2690/] subset: DO_rare_slim synonym: "congenital hereditary stromal dystrophy" EXACT [] synonym: "CSCD" EXACT OMO:0003012 [] xref: ICD10CM:H18.5 xref: MESH:C566452 xref: MIM:610048 xref: ORDO:101068 is_a: DOID:0060442 ! stromal dystrophy is_a: DOID:0080015 ! physical disorder created_by: elvira creation_date: 2015-10-16T17:09:23Z [Term] id: DOID:0060446 name: X-linked endothelial corneal dystrophy def: "A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." [url:https\://pubmed.ncbi.nlm.nih.gov/16490493/] subset: DO_rare_slim synonym: "XECD" EXACT OMO:0003012 [] xref: ICD10CM:H18.5 xref: MESH:C567587 xref: MIM:300779 xref: ORDO:293621 is_a: DOID:0060443 ! corneal endothelial dystrophy is_a: DOID:0080009 ! X-linked dominant disease created_by: elvira creation_date: 2015-10-16T17:13:34Z [Term] id: DOID:0060447 name: epithelial basement membrane dystrophy def: "An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium." [url:https\://pubmed.ncbi.nlm.nih.gov/16652336/] subset: DO_rare_slim synonym: "Cogan corneal dystrophy" EXACT [] synonym: "EBMD" EXACT OMO:0003012 [] synonym: "microcystic corneal dystrophy" EXACT [] xref: ICD10CM:H18.5 xref: MESH:C535477 xref: MIM:121820 xref: ORDO:98956 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060440 ! epithelial and subepithelial dystrophy created_by: elvira creation_date: 2015-10-16T17:17:01Z [Term] id: DOID:0060448 name: Fleck corneal dystrophy def: "A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34." [url:https\://pubmed.ncbi.nlm.nih.gov/23288988/, url:https\://pubmed.ncbi.nlm.nih.gov/26396486] subset: DO_rare_slim synonym: "FCD" EXACT OMO:0003012 [] synonym: "Francois-Neetens speckled corneal dystrophy" EXACT [] xref: MESH:C563256 xref: MIM:121850 xref: ORDO:98970 xref: SNOMEDCT_US_2023_03_01:417183007 xref: UMLS_CUI:C1562113 is_a: DOID:0060442 ! stromal dystrophy created_by: elvira creation_date: 2015-10-16T17:20:34Z [Term] id: DOID:0060449 name: gelatinous drop-like corneal dystrophy def: "An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32." [url:https\://pubmed.ncbi.nlm.nih.gov/10192395/] subset: DO_rare_slim subset: NCIthesaurus synonym: "corneal amyloidosis" EXACT [] synonym: "GDCD" EXACT OMO:0003012 [] synonym: "primary familial amyloidosis of the cornea" EXACT [] synonym: "subepithelial amyloidosis of the cornea" EXACT [] xref: MESH:C535480 xref: MIM:204870 xref: NCI:C142805 xref: ORDO:98957 xref: SNOMEDCT_US_2023_03_01:419900000 xref: UMLS_CUI:C0339273 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060440 ! epithelial and subepithelial dystrophy created_by: elvira creation_date: 2015-10-16T17:26:37Z [Term] id: DOID:0060450 name: Lisch epithelial corneal dystrophy def: "An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19." [url:https\://pubmed.ncbi.nlm.nih.gov/11024418/, url:https\://pubmed.ncbi.nlm.nih.gov/37972748/] subset: DO_rare_slim synonym: "band-shaped and whorled microcystic" EXACT [] synonym: "LECD" EXACT OMO:0003012 [] xref: ICD10CM:H18.5 xref: MESH:C567588 xref: MIM:620763 xref: ORDO:98955 is_a: DOID:0060440 ! epithelial and subepithelial dystrophy is_a: DOID:0080009 ! X-linked dominant disease created_by: elvira creation_date: 2015-10-16T17:42:58Z [Term] id: DOID:0060451 name: Meesmann corneal dystrophy def: "An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium." [url:https\://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy] subset: DO_rare_slim subset: NCIthesaurus synonym: "juvenile hereditary epithelial dystrophy" EXACT [] synonym: "MECD" EXACT OMO:0003012 [] synonym: "Stocker-Holt dystrophy" EXACT [] xref: GARD:9688 xref: ICD10CM:H18.52 xref: ICD9CM:371.51 xref: MESH:D053559 xref: MIM:PS122100 xref: NCI:C84795 xref: ORDO:98954 xref: SNOMEDCT_US_2023_03_01:193833008 xref: UMLS_CUI:C0339277 is_a: DOID:0060440 ! epithelial and subepithelial dystrophy created_by: elvira creation_date: 2015-10-16T17:45:27Z [Term] id: DOID:0060452 name: posterior amorphous corneal dystrophy def: "A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome." [url:https\://pubmed.ncbi.nlm.nih.gov/27096414/] subset: DO_rare_slim synonym: "chromosome 12q21.33 deletion syndrome" EXACT [] synonym: "PACD" EXACT OMO:0003012 [] xref: ICD10CM:H18.5 xref: MESH:C567546 xref: MIM:612868 xref: ORDO:98971 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:0060442 ! stromal dystrophy created_by: elvira creation_date: 2015-10-16T17:48:04Z [Term] id: DOID:0060453 name: Reis-Bucklers corneal dystrophy def: "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea." [url:https\://www.omim.org/entry/608470] subset: DO_rare_slim synonym: "anterior limiting membrane dystrophy type I" EXACT [] synonym: "corneal dystrophy of Bowman layer type I" EXACT [] synonym: "geographic corneal dystrophy" EXACT [] synonym: "granular corneal dystrophy type III" EXACT [] synonym: "RBCD" EXACT OMO:0003012 [] xref: MESH:C535476 xref: MIM:608470 xref: ORDO:98961 xref: SNOMEDCT_US_2023_03_01:231930000 xref: UMLS_CUI:C0339278 is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy created_by: elvira creation_date: 2015-10-16T17:51:03Z [Term] id: DOID:0060454 name: subepithelial mucinous corneal dystrophy def: "An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life." [url:https\://pubmed.ncbi.nlm.nih.gov/8352693/] subset: DO_rare_slim synonym: "SMCD" EXACT OMO:0003012 [] xref: ICD10CM:H18.5 xref: MESH:C567547 xref: MIM:612867 xref: ORDO:98959 is_a: DOID:0060440 ! epithelial and subepithelial dystrophy created_by: elvira creation_date: 2015-10-16T17:55:14Z [Term] id: DOID:0060455 name: Thiel-Behnke corneal dystrophy def: "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea." [url:https\://www.omim.org/entry/602082] subset: DO_rare_slim synonym: "anterior limiting membrane dystrophy type II" EXACT [] synonym: "corneal dystrophy honeycomb-shaped" EXACT [] synonym: "corneal dystrophy of Bowman layer type II" EXACT [] synonym: "TBCD" EXACT OMO:0003012 [] synonym: "Waardenburg-Jonker corneal dystrophy" EXACT [] xref: MESH:C535942 xref: MIM:602082 xref: ORDO:98960 xref: SNOMEDCT_US_2023_03_01:417065002 xref: UMLS_CUI:C1562894 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy created_by: elvira creation_date: 2015-10-16T17:57:16Z [Term] id: DOID:0060456 name: Schnyder corneal dystrophy def: "A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36." [url:https\://pubmed.ncbi.nlm.nih.gov/23169578/] subset: DO_rare_slim synonym: "corneal dystrophy crystalline of Schnyder" EXACT [] synonym: "crystalline stromal dystrophy" EXACT [] synonym: "hereditary crystalline stromal dystrophy of Schnyder" EXACT [] synonym: "SCCD" EXACT OMO:0003012 [] synonym: "Schnyder crystalline corneal dystrophy" EXACT [] xref: GARD:9277 xref: MESH:C535475 xref: MIM:121800 xref: ORDO:98967 xref: SNOMEDCT_US_2023_03_01:420212002 xref: UMLS_CUI:C0271287 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060442 ! stromal dystrophy created_by: elvira creation_date: 2015-10-16T18:01:14Z [Term] id: DOID:0060457 name: posterior polymorphous corneal dystrophy def: "A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer." [url:https\://en.wikipedia.org/wiki/Posterior_polymorphous_corneal_dystrophy] subset: DO_rare_slim synonym: "hereditary polymorphus posterior corneal dystrophy" EXACT [] synonym: "PPCD" EXACT OMO:0003012 [] synonym: "Schlichting dystrophy" EXACT [] xref: ICD10CM:H18.5 xref: MESH:C562745 xref: MIM:PS122000 xref: ORDO:98973 is_a: DOID:2566 ! corneal dystrophy created_by: elvira creation_date: 2015-10-16T18:05:26Z [Term] id: DOID:0060458 name: chromosome 2q31.1 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region." [url:https\://pubmed.ncbi.nlm.nih.gov/20577005/] xref: MIM:613681 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: elvira creation_date: 2015-10-19T14:42:34Z [Term] id: DOID:0060459 name: chromosome 3q29 microduplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region." [url:https\://ghr.nlm.nih.gov/condition/3q29-microduplication-syndrome] subset: DO_rare_slim synonym: "3q29 microduplication" EXACT [] synonym: "trisomy 3q29" EXACT [] xref: GARD:10360 xref: ICD10CM:Q92.3 xref: MESH:C567626 xref: MIM:611936 xref: ORDO:251038 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: elvira creation_date: 2015-10-19T14:45:49Z [Term] id: DOID:0060460 name: chromosome 5p13 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region." [url:https\://pubmed.ncbi.nlm.nih.gov/19052029/] subset: DO_rare_slim synonym: "5p13 microduplication syndrome" EXACT [] synonym: "trisomy 5p13" EXACT [] xref: ICD10CM:Q92.3 xref: MESH:C567717 xref: MIM:613174 xref: ORDO:329802 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: elvira creation_date: 2015-10-19T15:25:26Z [Term] id: DOID:0060461 name: chromosome Xp11.23-p11.22 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region." [url:https\://pubmed.ncbi.nlm.nih.gov/19716111/] subset: DO_rare_slim synonym: "microduplication Xp11.22-p11.23 syndrome" EXACT [] synonym: "trisomy Xp11.22-p11.23" EXACT [] xref: ICD10CM:Q99.8 xref: MESH:C567585 xref: MIM:300801 xref: ORDO:217377 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:0080009 ! X-linked dominant disease created_by: elvira creation_date: 2015-10-19T15:29:51Z [Term] id: DOID:0060462 name: Desbuquois dysplasia def: "An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19853239, url:https\://www.ncbi.nlm.nih.gov/pubmed/21037275] subset: DO_rare_slim subset: NCIthesaurus synonym: "Desbuquois syndrome" EXACT [] synonym: "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" EXACT [] xref: GARD:1818 xref: MESH:C535943 xref: MIM:251450 xref: MIM:615777 xref: NCI:C124056 xref: ORDO:1425 xref: SNOMEDCT_US_2023_03_01:254099008 xref: UMLS_CUI:C0432242 is_a: DOID:2256 ! osteochondrodysplasia created_by: elvira creation_date: 2015-11-02T16:22:42Z [Term] id: DOID:0060463 name: NUT midline carcinoma def: "A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum." [url:https\://en.wikipedia.org/wiki/NUT_midline_carcinoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/21221870, url:https\://www.ncbi.nlm.nih.gov/pubmed/25685583, url:https\://www.ncbi.nlm.nih.gov/pubmed/26378054, url:https\://www.ncbi.nlm.nih.gov/pubmed/26402248] subset: DO_cancer_slim subset: NCIthesaurus synonym: "nuclear protein in testis midline carcinoma" EXACT [] xref: NCI:C45716 xref: SNOMEDCT_US_2023_03_01:733922002 xref: UMLS_CUI:C1707291 is_a: DOID:305 ! carcinoma created_by: elvira creation_date: 2015-11-04T14:54:36Z [Term] id: DOID:0060464 name: Feingold syndrome def: "A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation." [url:http\://ghr.nlm.nih.gov/condition/feingold-syndrome, url:https\://en.wikipedia.org/wiki/Feingold_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/14518066, url:https\://www.ncbi.nlm.nih.gov/pubmed/16906565] subset: DO_rare_slim synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" EXACT [] synonym: "FGLDS" EXACT OMO:0003012 [] synonym: "microcephaly-digital anomalies-normal intelligence syndrome" EXACT [] synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome" EXACT [] synonym: "MODED syndrome" EXACT [] synonym: "oculo-digito-esophageal-duodenal syndrome" EXACT [] synonym: "ODED syndrome" EXACT [] xref: GARD:8407 xref: ICD10CM:Q87.8 xref: MESH:C537734 xref: MIM:164280 xref: MIM:614326 xref: ORDO:1305 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome created_by: elvira creation_date: 2015-11-04T16:11:58Z [Term] id: DOID:0060465 name: fibrochondrogenesis def: "An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen." [url:https\://ghr.nlm.nih.gov/condition/fibrochondrogenesis] subset: DO_rare_slim xref: GARD:2321 xref: MESH:C562524 xref: MIM:PS228520 xref: ORDO:2021 xref: SNOMEDCT_US_2023_03_01:17144009 xref: UMLS_CUI:C0265282 is_a: DOID:2256 ! osteochondrodysplasia created_by: elvira creation_date: 2015-11-04T16:24:41Z [Term] id: DOID:0060466 name: gingival fibromatosis def: "A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11868160, url:https\://www.ncbi.nlm.nih.gov/pubmed/17385395] subset: DO_rare_slim synonym: "hereditary gingival fibromatosis" EXACT [] synonym: "hereditary gingival hyperplasia" EXACT [] xref: MESH:C562884 xref: MIM:135300 xref: MIM:605544 xref: MIM:609955 xref: MIM:611010 xref: ORDO:2024 xref: SNOMEDCT_US_2023_03_01:109620006 xref: UMLS_CUI:C0399440 is_a: DOID:3086 ! gingival overgrowth created_by: elvira creation_date: 2015-11-04T16:47:21Z [Term] id: DOID:0060467 name: humeroradial synostosis def: "A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity." [url:https\://rarediseases.info.nih.gov/diseases/2748/humeroradial-synostosis] subset: DO_rare_slim synonym: "humero-radial fusion" RELATED [] xref: GARD:2748 xref: MESH:C535284 xref: MIM:143050 xref: MIM:236400 xref: ORDO:3265 xref: SNOMEDCT_US_2021_07_31:205329008 is_a: DOID:11971 ! synostosis creation_date: 2015-11-11T21:29:39Z [Term] id: DOID:0060468 name: Holt-Oram syndrome def: "A syndrome characterized by congenital anomalies located_in heart and located_in upper limb." [url:http\://ghr.nlm.nih.gov/condition/holt-oram-syndrome, url:https\://en.wikipedia.org/wiki/Holt-Oram_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/12223419, url:https\://www.ncbi.nlm.nih.gov/pubmed/12436037] subset: DO_rare_slim subset: NCIthesaurus synonym: "atrio-digital syndrome" EXACT [] synonym: "atriodigital dysplasia" EXACT [] synonym: "heart-hand syndrome" EXACT [] xref: GARD:6666 xref: ICD10CM:Q87.2 xref: MESH:C535326 xref: MIM:142900 xref: NCI:C125592 xref: ORDO:392 xref: SNOMEDCT_US_2023_03_01:205814003 xref: UMLS_CUI:C0265264 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome created_by: elvira creation_date: 2015-11-17T16:06:23Z [Term] id: DOID:0060469 name: Miller-Dieker lissencephaly syndrome def: "A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene." [url:http\://ghr.nlm.nih.gov/condition/miller-dieker-syndrome, url:https\://en.wikipedia.org/wiki/Miller-Dieker_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/21239872, url:https\://www.ncbi.nlm.nih.gov/pubmed/9473821] subset: DO_rare_slim subset: NCIthesaurus synonym: "MDS" EXACT OMO:0003012 [] synonym: "Miller-Dieker syndrome" EXACT [] xref: ICD10CM:Q93.88 xref: MESH:D054221 xref: MIM:247200 xref: NCI:C124852 xref: ORDO:531 xref: SNOMEDCT_US_2023_03_01:253148005 xref: UMLS_CUI:C0265219 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome created_by: elvira creation_date: 2015-11-17T16:22:00Z [Term] id: DOID:0060470 name: salt and pepper syndrome def: "A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24026681] subset: DO_rare_slim synonym: "salt & pepper syndrome" EXACT [] synonym: "salt-and-pepper syndrome" EXACT [] xref: MIM:609056 xref: ORDO:370938 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome created_by: elvira creation_date: 2015-11-17T16:40:23Z [Term] id: DOID:0060471 name: fetal valproate syndrome def: "A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17090909, url:https\://www.ncbi.nlm.nih.gov/pubmed/25400349] subset: DO_rare_slim subset: NCIthesaurus synonym: "fetal valproic acid syndrome" EXACT [] synonym: "foetal valproate syndrome" EXACT [] synonym: "foetal valproic acid syndrome" EXACT [] xref: MESH:C536525 xref: MIM:609442 xref: NCI:C98930 xref: ORDO:1906 xref: SNOMEDCT_US_2023_03_01:205792006 xref: UMLS_CUI:C0236026 is_a: DOID:225 ! syndrome created_by: elvira creation_date: 2015-11-17T16:47:50Z [Term] id: DOID:0060472 name: Kindler syndrome def: "A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling." [url:https\://en.wikipedia.org/wiki/Kindler_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/12668616] subset: DO_rare_slim synonym: "hereditary acrokeratotic poikiloderma of Kindler-Weary" EXACT [] synonym: "poikiloderma of Kindler" EXACT [] xref: GARD:4391 xref: MESH:C536321 xref: MIM:173650 xref: ORDO:306539 is_a: DOID:37 ! skin disease created_by: elvira creation_date: 2015-11-17T16:54:49Z [Term] id: DOID:0060473 name: Kabuki syndrome def: "A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects." [url:http\://ghr.nlm.nih.gov/condition/kabuki-syndrome, url:https\://en.wikipedia.org/wiki/Kabuki_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/25281733, url:https\://www.ncbi.nlm.nih.gov/pubmed/25972376, url:https\://www.ncbi.nlm.nih.gov/pubmed/26512256] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Kabuki make up syndrome" EXACT [] synonym: "KMS" EXACT OMO:0003012 [] synonym: "Niikawa-Kuroki syndrome" EXACT [] xref: GARD:6810 xref: MESH:C537705 xref: MIM:147920 xref: MIM:300867 xref: NCI:C124837 xref: ORDO:2322 xref: SNOMEDCT_US_2023_03_01:205805008 xref: UMLS_CUI:C0796004 is_a: DOID:225 ! syndrome created_by: elvira creation_date: 2015-11-18T16:21:35Z [Term] id: DOID:0060474 name: familial erythrocytosis 2 def: "A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15725900] subset: DO_rare_slim synonym: "autosomal recessive benign erythrocytosis" EXACT [] synonym: "Chuvash erythromatosis" EXACT [] synonym: "Chuvash polycythemia" EXACT [] synonym: "Chuvash type polycythemia" EXACT [] synonym: "ECYT2" EXACT OMO:0003012 [] xref: ICD10CM:D75.1 xref: MIM:263400 xref: ORDO:238557 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10780 ! primary polycythemia created_by: elvira creation_date: 2015-11-18T16:42:50Z [Term] id: DOID:0060475 name: myoclonic-atonic epilepsy def: "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25." [url:https\://www.ncbi.nlm.nih.gov/books/NBK589173/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23708187, url:https\://www.ncbi.nlm.nih.gov/pubmed/24207121] synonym: "childhood onset epileptic encephalopathy" EXACT [] synonym: "EEOC" EXACT OMO:0003012 [] xref: MIM:616421 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1827 ! idiopathic generalized epilepsy created_by: elvira creation_date: 2015-11-19T16:30:12Z [Term] id: DOID:0060476 name: Perlman syndrome def: "A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome." [url:https\://en.wikipedia.org/wiki/Perlman_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/18780370, url:https\://www.ncbi.nlm.nih.gov/pubmed/22306653] subset: DO_rare_slim synonym: "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor" EXACT [] synonym: "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor" EXACT [] synonym: "renal hamartomas, nephroblastomatosis and fetal gigantism" EXACT [] xref: GARD:3936 xref: ICD10CM:Q87.3 xref: MESH:C536399 xref: MIM:267000 xref: ORDO:2849 is_a: DOID:225 ! syndrome created_by: elvira creation_date: 2015-11-20T16:04:30Z [Term] id: DOID:0060478 name: Zika fever def: "A viral infectious disease that has_material_basis_in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain." [url:http\://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx, url:http\://www.who.int/mediacentre/factsheets/zika/en/, url:https\://en.wikipedia.org/wiki/Zika_fever, url:https\://www.cdc.gov/zika/about/] subset: DO_infectious_disease_slim synonym: "Zika virus disease" EXACT [] xref: ICD10CM:A92.8 xref: MESH:D000071243 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0060479 name: Shwachman-Diamond syndrome alt_id: DOID:0080023 def: "A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities." [url:http\://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome, url:https\://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/18356737, url:https\://www.ncbi.nlm.nih.gov/pubmed/22201042] subset: DO_rare_slim synonym: "pancreatic insufficiency and bone marrow dysfunction" EXACT [] synonym: "Shwachman syndrome" EXACT [] synonym: "Shwachman-Bodian-Diamond syndrome" EXACT [] synonym: "Shwachman-Diamond type metaphyseal dysplasia" EXACT [] xref: GARD:4863 xref: ICD10CM:D61.0 xref: MESH:C537330 xref: MIM:260400 is_a: DOID:225 ! syndrome [Term] id: DOID:0060480 name: left ventricular noncompaction def: "An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16567565] subset: DO_rare_slim synonym: "left ventricular hypertrabeculation" EXACT [] xref: GARD:10985 xref: MIM:604169 xref: ORDO:54260 is_a: DOID:0060036 ! intrinsic cardiomyopathy [Term] id: DOID:0060481 name: Goldberg-Shprintzen syndrome def: "A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1." [url:https\://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15883926, url:https\://www.ncbi.nlm.nih.gov/pubmed/23427148] subset: DO_rare_slim synonym: "Goldberg-Shprintzen megacolon syndrome" EXACT [] xref: GARD:9849 xref: MESH:C537279 xref: MIM:609460 xref: ORDO:66629 xref: SNOMEDCT_US_2023_03_01:717822006 xref: UMLS_CUI:C1836123 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060482 name: oculoauricular syndrome def: "A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18423520, url:https\://www.ncbi.nlm.nih.gov/pubmed/25574057] subset: DO_rare_slim xref: ICD10CM:Q87.8 xref: MESH:C567416 xref: MIM:612109 xref: ORDO:157962 is_a: DOID:225 ! syndrome [Term] id: DOID:0060483 name: MEDNIK syndrome def: "A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23423674, url:https\://www.ncbi.nlm.nih.gov/pubmed/24754424] subset: DO_rare_slim synonym: "erythrokeratodermia variabilis 3" EXACT [] synonym: "erythrokeratodermia variabilis, Kamouraska type" EXACT [] synonym: "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia" EXACT [] xref: MIM:609313 xref: ORDO:171851 is_a: DOID:225 ! syndrome [Term] id: DOID:0060484 name: EAST syndrome def: "A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19289823, url:https\://www.ncbi.nlm.nih.gov/pubmed/19420365, url:https\://www.ncbi.nlm.nih.gov/pubmed/23471908] subset: DO_rare_slim synonym: "epilepsy, ataxia, sensorineural deafness and tubulopathy" EXACT [] synonym: "seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance" EXACT [] synonym: "SeSAME syndrome" EXACT [] xref: MESH:C557674 xref: MIM:612780 xref: ORDO:199343 xref: SNOMEDCT_US_2023_03_01:721207002 xref: UMLS_CUI:C2748572 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060485 name: Mowat-Wilson syndrome def: "A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22." [url:https\://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/17958891, url:https\://www.ncbi.nlm.nih.gov/pubmed/23466526] subset: DO_rare_slim subset: NCIthesaurus synonym: "Hirschsprung disease mental retardation syndrome" EXACT [] synonym: "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease" EXACT [] xref: GARD:9673 xref: MESH:C536990 xref: MIM:235730 xref: NCI:C74999 xref: ORDO:2152 xref: SNOMEDCT_US_2023_03_01:703535000 xref: UMLS_CUI:C1856113 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060486 name: Perry syndrome def: "A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13." [url:http\://www.ncbi.nlm.nih.gov/books/NBK47027/, url:https\://ghr.nlm.nih.gov/condition/perry-syndrome] subset: DO_rare_slim synonym: "parkinsonism with alveolar hypoventilation and mental depression" EXACT [] xref: GARD:10453 xref: MESH:C566822 xref: MIM:168605 xref: ORDO:178509 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060488 name: Pitt-Hopkins syndrome def: "A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21." [url:http\://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome, url:https\://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/17436255, url:https\://www.ncbi.nlm.nih.gov/pubmed/26621827, url:https\://www.ncbi.nlm.nih.gov/pubmed/728011] subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:4372 xref: MESH:C537403 xref: MIM:610954 xref: NCI:C129872 xref: ORDO:2896 xref: SNOMEDCT_US_2023_03_01:702344008 xref: UMLS_CUI:C1970431 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060490 name: Schimke immuno-osseous dysplasia def: "A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene." [url:http\://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1376/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10653321] subset: DO_rare_slim subset: NCIthesaurus synonym: "immunoosseous dysplasia Schimke type" EXACT [] synonym: "Schimke immunoosseous dysplasia" EXACT [] synonym: "Schimke syndrome" EXACT [] synonym: "spondyloepiphyseal dysplasia - nephrotic syndrome" EXACT [] xref: GARD:4984 xref: MESH:C536629 xref: MIM:242900 xref: NCI:C135087 xref: ORDO:1830 xref: SNOMEDCT_US_2023_03_01:723995003 xref: UMLS_CUI:C0877024 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:0060491 name: SPOAN syndrome def: "A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15852396, url:https\://www.ncbi.nlm.nih.gov/pubmed/26385635] subset: DO_rare_slim synonym: "spastic paraplegia, optic atropy, and neuropathy" EXACT [] synonym: "spastic paraplegia, optic atropy, and neuropathy syndrome" EXACT [] xref: ICD10CM:G11.4 xref: MESH:C563702 xref: MIM:609541 xref: ORDO:320406 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:0060492 name: chicken egg allergy def: "An egg allergy triggered by Gallus gallus eggs." [url:http\://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5001, url:https\://en.wikipedia.org/wiki/Egg_allergy] subset: DO_IEDB_slim synonym: "Gallus gallus egg allergy" EXACT [] is_a: DOID:4377 ! egg allergy [Term] id: DOID:0060495 name: shellfish allergy def: "A food allergy triggered by Crustacea or Mollusca." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28027402, url:https\://www.ncbi.nlm.nih.gov/pubmed/29858102, url:https\://www.ncbi.nlm.nih.gov/pubmed/30893087] subset: DO_IEDB_slim is_a: DOID:3044 ! food allergy [Term] id: DOID:0060496 name: respiratory allergy def: "An allergic disease that is located_in the respiratory tract." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25006500, url:https\://www.ncbi.nlm.nih.gov/pubmed/28187789] subset: DO_IEDB_slim synonym: "airway allergy" EXACT [] is_a: DOID:1205 ! allergic disease [Term] id: DOID:0060497 name: pollen allergy def: "A respiratory allergy triggered by pollen." [url:https\://acaai.org/allergies/types-allergies/pollen-allergy, url:https\://www.aafa.org/pollen-allergy/] subset: DO_IEDB_slim is_a: DOID:0060496 ! respiratory allergy [Term] id: DOID:0060498 name: Timothy grass allergy def: "A pollen allergy triggered by Phleum pratense pollen." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25685162] subset: DO_IEDB_slim is_a: DOID:0060497 ! pollen allergy [Term] id: DOID:0060499 name: autoimmune neuropathy def: "An autoimmune disease of central nervous system caused by an autoimmune response." [url:https\://www.dukehealth.org/pediatric-treatments/autoimmune-brain-disorders, url:https\://www.ncbi.nlm.nih.gov/pubmed/28601415] is_a: DOID:0060004 ! autoimmune disease of central nervous system [Term] id: DOID:0060500 name: drug allergy def: "An allergic disease that is triggered by a drug." [url:https\://www.mayoclinic.org/diseases-conditions/drug-allergy/symptoms-causes/syc-20371835] subset: DO_IEDB_slim is_a: DOID:1205 ! allergic disease [Term] id: DOID:0060501 name: metal allergy def: "An allergic disease that is triggered by a metal." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27228132] subset: DO_IEDB_slim is_a: DOID:1205 ! allergic disease [Term] id: DOID:0060502 name: gastrointestinal allergy def: "An allergic disease that is located_in the gastrointestinal tract." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18721321] subset: DO_IEDB_slim is_a: DOID:1205 ! allergic disease [Term] id: DOID:0060503 name: fruit allergy def: "A food allergy triggered by a plant fruit product." [url:https\://en.wikipedia.org/wiki/Fruit_allergy, url:https\://www.ncbi.nlm.nih.gov/pubmed/26022876, url:https\://www.ncbi.nlm.nih.gov/pubmed/26549334] subset: DO_IEDB_slim is_a: DOID:3044 ! food allergy [Term] id: DOID:0060504 name: apple allergy def: "A fruit allergy triggered by Malus domestica plant fruit food product." [url:http\://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=2, url:https\://www.ncbi.nlm.nih.gov/pubmed/26549334, url:https\://www.ncbi.nlm.nih.gov/pubmed/29130794] subset: DO_IEDB_slim synonym: "Malus domestica fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060505 name: apricot allergy def: "A fruit allergy triggered by Prunus armeniaca plant fruit food product." [url:http\://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=410, url:https\://www.ncbi.nlm.nih.gov/pubmed/30611476] subset: DO_IEDB_slim synonym: "Prunus armeniaca fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060506 name: cherry allergy def: "A fruit allergy triggered by Prunus avium plant fruit food product." [url:http\://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=19, url:https\://www.ncbi.nlm.nih.gov/pubmed/26549334, url:https\://www.ncbi.nlm.nih.gov/pubmed/30093847] subset: DO_IEDB_slim synonym: "Prunus avium fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060507 name: Indian plum allergy def: "A fruit allergy triggered by Ziziphus mauritiana plant fruit food product." [url:https\://en.wikipedia.org/wiki/Fruit_allergy, url:https\://www.ncbi.nlm.nih.gov/pubmed/14976388, url:https\://www.ncbi.nlm.nih.gov/pubmed/24696647] subset: DO_IEDB_slim synonym: "Ziziphus mauritiana fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060508 name: orange allergy def: "A fruit allergy triggered by Citrus sinensis plant fruit food product." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26549334, url:https\://www.ncbi.nlm.nih.gov/pubmed/30099793] subset: DO_IEDB_slim synonym: "Citrus sinensis fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060509 name: melon allergy def: "A fruit allergy triggered by Cucumis melo plant fruit food product." [url:http\://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=67, url:https\://www.ncbi.nlm.nih.gov/pubmed/26549334] subset: DO_IEDB_slim synonym: "Cucumis melo fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060510 name: peach allergy def: "A fruit allergy triggered by Prunus persica plant fruit food product." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30672059] subset: DO_IEDB_slim synonym: "Prunus persica fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060511 name: plum allergy def: "A fruit allergy triggered by Prunus domestica plant fruit food product." [url:http\://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=27] subset: DO_IEDB_slim synonym: "Prunus domestica fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060512 name: tomato allergy def: "A fruit allergy triggered by Solanum lycopersicum plant fruit food product." [url:http\://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=52, url:https\://www.ncbi.nlm.nih.gov/pubmed/12001794, url:https\://www.ncbi.nlm.nih.gov/pubmed/23653972] subset: DO_IEDB_slim synonym: "Solanum lycopersicum fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060513 name: fish allergy def: "A food allergy triggered by fish." [url:https\://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy, url:https\://www.ncbi.nlm.nih.gov/pubmed/24795722, url:https\://www.ncbi.nlm.nih.gov/pubmed/30323632] subset: DO_IEDB_slim is_a: DOID:3044 ! food allergy [Term] id: DOID:0060514 name: Atlantic cod allergy def: "A fish allergy triggered by Gadus morhua." [url:http\://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5005, url:https\://www.ncbi.nlm.nih.gov/pubmed/24795722, url:https\://www.ncbi.nlm.nih.gov/pubmed/30323632] subset: DO_IEDB_slim synonym: "Gadus morhua fish allergy" EXACT [] is_a: DOID:0060513 ! fish allergy [Term] id: DOID:0060515 name: Atlantic salmon allergy def: "A fish allergy triggered by Salmo salar." [url:http\://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5022, url:https\://www.ncbi.nlm.nih.gov/pubmed/24795722, url:https\://www.ncbi.nlm.nih.gov/pubmed/30323632] subset: DO_IEDB_slim synonym: "Salmo salar fish allergy" EXACT [] is_a: DOID:0060513 ! fish allergy [Term] id: DOID:0060516 name: carp allergy def: "A fish allergy triggered by Cyprinus carpio." [url:http\://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5018, url:https\://www.ncbi.nlm.nih.gov/pubmed/24795722, url:https\://www.ncbi.nlm.nih.gov/pubmed/30323632] subset: DO_IEDB_slim synonym: "Cyprinus carpio fish allergy" EXACT [] is_a: DOID:0060513 ! fish allergy [Term] id: DOID:0060517 name: zebrafish allergy def: "A fish allergy triggered by Danio rerio." [url:https\://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy] subset: DO_IEDB_slim synonym: "Danio rerio allergy" EXACT [] is_a: DOID:0060513 ! fish allergy [Term] id: DOID:0060518 name: rainbow trout allergy def: "A fish allergy triggered by Oncorhynchus mykiss." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24795722, url:https\://www.ncbi.nlm.nih.gov/pubmed/26111497, url:https\://www.ncbi.nlm.nih.gov/pubmed/30323632] subset: DO_IEDB_slim synonym: "Oncorhynchus mykiss allergy" EXACT [] is_a: DOID:0060513 ! fish allergy [Term] id: DOID:0060519 name: beta-lactam allergy def: "A drug allergy triggered by a beta-lactam." [url:https\://en.wikipedia.org/wiki/%CE%92-lactam_antibiotic#Allergy/hypersensitivity, url:https\://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_ABX_Guide/540622/all/Beta_lactam_allergy, url:https\://www.ncbi.nlm.nih.gov/pubmed/31009700] subset: DO_IEDB_slim is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0060520 name: penicillin allergy def: "A beta-lactam allergy triggered by penicillin." [url:https\://en.wikipedia.org/wiki/Side_effects_of_penicillin#Allergies_and_cross_sensitivities, url:https\://www.mayoclinic.org/diseases-conditions/penicillin-allergy/symptoms-causes/syc-20376222] subset: DO_IEDB_slim is_a: DOID:0060519 ! beta-lactam allergy [Term] id: DOID:0060521 name: cow milk allergy def: "A milk allergy triggered by Bos taurus milk." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31083388] subset: DO_IEDB_slim synonym: "Bos taurus milk allergy" EXACT [] is_a: DOID:4376 ! milk allergy [Term] id: DOID:0060522 name: goat milk allergy def: "A milk allergy triggered by Capra hircus milk." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17002714, url:https\://www.ncbi.nlm.nih.gov/pubmed/24372684] subset: DO_IEDB_slim synonym: "Capra hircus milk allergy" EXACT [] is_a: DOID:4376 ! milk allergy [Term] id: DOID:0060523 name: mollusc allergy def: "A shellfish allergy triggered by Mollusca." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28027402, url:https\://www.ncbi.nlm.nih.gov/pubmed/29858102, url:https\://www.ncbi.nlm.nih.gov/pubmed/30893087] subset: DO_IEDB_slim is_a: DOID:0060495 ! shellfish allergy [Term] id: DOID:0060524 name: crustacean allergy def: "A shellfish allergy triggered by Crustacea." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28027402, url:https\://www.ncbi.nlm.nih.gov/pubmed/29858102, url:https\://www.ncbi.nlm.nih.gov/pubmed/30893087] subset: DO_IEDB_slim is_a: DOID:0060495 ! shellfish allergy [Term] id: DOID:0060525 name: brown shrimp allergy def: "A crustacean allergy triggered by Farfantepenaeus aztecus." [url:http\://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5027, url:https\://www.ncbi.nlm.nih.gov/pubmed/28027402, url:https\://www.ncbi.nlm.nih.gov/pubmed/29858102] subset: DO_IEDB_slim synonym: "Farfantepenaeus aztecus allergy" EXACT [] is_a: DOID:0040001 ! shrimp allergy [Term] id: DOID:0060526 name: crab allergy def: "A crustacean allergy triggered by Scylla paramamosain." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25728640, url:https\://www.ncbi.nlm.nih.gov/pubmed/29858102] subset: DO_IEDB_slim synonym: "green mud crab allergy" EXACT [] synonym: "Scylla paramamosain allergy" EXACT [] is_a: DOID:0060524 ! crustacean allergy [Term] id: DOID:0060527 name: Indian prawn allergy def: "A crustacean allergy triggered by Fenneropenaeus indicus." [url:http\://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5029, url:https\://www.ncbi.nlm.nih.gov/pubmed/29858102] subset: DO_IEDB_slim synonym: "Fenneropenaeus indicus allergy" EXACT [] is_a: DOID:0040001 ! shrimp allergy [Term] id: DOID:0060528 name: tiger prawn allergy def: "A crustacean allergy triggered by Penaeus monodon." [url:http\://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5028, url:https\://www.ncbi.nlm.nih.gov/pubmed/22135598, url:https\://www.ncbi.nlm.nih.gov/pubmed/29178679] subset: DO_IEDB_slim synonym: "Penaeus monodon allergy" EXACT [] is_a: DOID:0040001 ! shrimp allergy [Term] id: DOID:0060529 name: white shrimp allergy def: "A crustacean allergy triggered by Litopenaeus vannamei." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20471069, url:https\://www.ncbi.nlm.nih.gov/pubmed/28027402, url:https\://www.ncbi.nlm.nih.gov/pubmed/29858102] subset: DO_IEDB_slim synonym: "Litopenaeus vannamei allergy" EXACT [] is_a: DOID:0040001 ! shrimp allergy [Term] id: DOID:0060530 name: snail allergy def: "A mollusc allergy triggered by snails." [url:http\://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5010, url:https\://www.ncbi.nlm.nih.gov/pubmed/15591808] subset: DO_IEDB_slim is_a: DOID:0060523 ! mollusc allergy [Term] id: DOID:0060531 name: horned turban snail allergy def: "A snail allergy triggered by the horned turban snail." [url:https\://farrp.unl.edu/informallmollshellfish] subset: DO_IEDB_slim synonym: "Turbo cornutus allergy" EXACT [] is_a: DOID:0060530 ! snail allergy [Term] id: DOID:0060532 name: latex allergy def: "An allergic disease that is triggered by latex." [url:https\://en.wikipedia.org/wiki/Latex_allergy, url:https\://www.ncbi.nlm.nih.gov/pubmed/27010091] subset: DO_IEDB_slim is_a: DOID:1205 ! allergic disease [Term] id: DOID:0060534 name: hepatoid adenocarcinoma def: "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." [url:https\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus xref: ICDO:8576/3 xref: NCI:C66950 is_a: DOID:299 ! adenocarcinoma disjoint_from: DOID:0080202 ! adenoid cystic carcinoma [Term] id: DOID:0060535 name: Warsaw breakage syndrome def: "A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11." [url:https\://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/20137776, url:https\://www.ncbi.nlm.nih.gov/pubmed/21490908, url:https\://www.ncbi.nlm.nih.gov/pubmed/23033317, url:https\://www.ncbi.nlm.nih.gov/pubmed/26089203, url:https\://www.ncbi.nlm.nih.gov/pubmed/31169992] subset: DO_rare_slim synonym: "WABS" EXACT OMO:0003012 [] xref: GARD:13708 xref: MIM:613398 xref: ORDO:280558 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060536 name: mitochondrial complex I deficiency def: "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded." [url:http\://www.omim.org/entry/252010] subset: DO_rare_slim synonym: "isolated mitochondrial respiratory chain complex I deficiency" EXACT [] synonym: "isolated NADH-coenzyme Q reductase deficiency" EXACT [] synonym: "isolated NADH-CoQ reductase deficiency" EXACT [] synonym: "isolated NADH-ubiquinone reductase deficiency" EXACT [] xref: GARD:3908 xref: MESH:C537475 xref: ORDO:2609 xref: SNOMEDCT_US_2023_03_01:237988006 xref: UMLS_CUI:C1838979 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0060537 name: mitochondrial complex II deficiency def: "A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23322652] subset: DO_rare_slim synonym: "isolated mitochondrial respiratory chain complex II deficiency" EXACT [] synonym: "isolated succinate-coenzyme Q reductase deficiency" EXACT [] synonym: "isolated succinate-CoQ reductase deficiency" EXACT [] synonym: "isolated succinate-ubiquinone reductase deficiency" EXACT [] xref: GARD:5053 xref: ICD10CM:G71.3 xref: MESH:C565375 xref: MIM:252011 xref: ORDO:3208 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0060538 name: purpura fulminans def: "A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal." [url:https\://en.wikipedia.org/wiki/Purpura_fulminans, url:https\://www.ncbi.nlm.nih.gov/pubmed/26955583, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49566] subset: DO_rare_slim synonym: "purpura gangrenosa" EXACT [] xref: ICD10CM:D65 xref: MESH:D055665 xref: ORDO:49566 is_a: DOID:3326 ! purpura [Term] id: DOID:0060539 name: Hermansky-Pudlak syndrome 1 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24." [url:http\://omim.org/entry/203300] xref: MIM:203300 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060540 name: Hermansky-Pudlak syndrome 2 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1." [url:http\://omim.org/entry/608233] xref: MESH:C537709 xref: MIM:608233 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060541 name: Hermansky-Pudlak syndrome 3 def: "A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24." [url:http\://omim.org/entry/614072] xref: MIM:614072 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060542 name: Hermansky-Pudlak syndrome 4 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1." [url:http\://omim.org/entry/614073] xref: MIM:614073 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060543 name: Hermansky-Pudlak syndrome 5 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14." [url:http\://omim.org/entry/614074] xref: MIM:614074 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060544 name: Hermansky-Pudlak syndrome 6 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24." [url:http\://omim.org/entry/614075] xref: MIM:614075 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060545 name: Hermansky-Pudlak syndrome 7 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3." [url:http\://omim.org/entry/614076] xref: MIM:614076 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060546 name: Hermansky-Pudlak syndrome 8 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13." [url:http\://omim.org/entry/614077] xref: MIM:614077 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060547 name: Hermansky-Pudlak syndrome 9 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21." [url:http\://omim.org/entry/614171] xref: MIM:614171 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060548 name: luminal breast carcinoma A def: "A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/] subset: NCIthesaurus synonym: "breast tumor luminal" BROAD [] synonym: "Luminal A Breast Carcinoma" EXACT [] synonym: "luminal breast cancer" BROAD [] xref: NCI:C53554 xref: UMLS_CUI:C3642345 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:0060549 name: Barber-Say syndrome def: "A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37." [url:https\://rarediseases.info.nih.gov/gard/819/barber-say-syndrome/resources/1, url:https\://www.ncbi.nlm.nih.gov/pubmed/27196381] subset: DO_rare_slim xref: GARD:819 xref: MESH:C537908 xref: MIM:209885 xref: ORDO:1231 xref: SNOMEDCT_US_2023_03_01:408537003 xref: UMLS_CUI:C1319466 is_a: DOID:225 ! syndrome [Term] id: DOID:0060550 name: ablepharon macrostomia syndrome def: "A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37." [url:http\://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/, url:https\://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/27196381] subset: DO_rare_slim xref: GARD:3 xref: MESH:C535557 xref: MIM:200110 xref: ORDO:920 xref: SNOMEDCT_US_2023_03_01:718575002 xref: UMLS_CUI:C1860224 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060551 name: poikiloderma with neutropenia def: "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20734427] subset: DO_rare_slim synonym: "poikiloderma with neutropenia, Clericuzio type" EXACT [] xref: GARD:4085 xref: ICD10CM:D82.8 xref: MESH:C565820 xref: MIM:604173 xref: ORDO:221046 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:37 ! skin disease [Term] id: DOID:0060556 name: Kufor-Rakeb syndrome def: "An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15986421, url:https\://www.ncbi.nlm.nih.gov/pubmed/23791710] subset: DO_rare_slim synonym: "autosomal recessive juvenile onset Parkinson disease 9" EXACT [] synonym: "autosomal recessive Parkinson disease 9" EXACT [] xref: MESH:C537177 xref: MIM:606693 xref: ORDO:306674 xref: SNOMEDCT_US_2023_03_01:723992000 xref: UMLS_CUI:C1847640 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease [Term] id: DOID:0060557 name: ataxia with oculomotor apraxia type 3 def: "An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13." [url:https\://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia] synonym: "ataxia-oculomotor apraxia 3" EXACT [] xref: MIM:615217 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0060558 name: lethal congenital contracture syndrome def: "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22610851] subset: DO_rare_slim xref: GARD:12643 xref: ICD10CM:Q68.8 xref: MIM:PS253310 xref: ORDO:294965 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0060559 name: lethal congenital contracture syndrome 1 def: "A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9683599] subset: DO_rare_slim synonym: "LCCS1" EXACT OMO:0003012 [] synonym: "multiple contracture syndrome, Finnish type" EXACT [] xref: GARD:3227 xref: MESH:C537194 xref: MIM:253310 xref: ORDO:1486 xref: SNOMEDCT_US_2023_03_01:715418007 xref: UMLS_CUI:C1854664 is_a: DOID:0060558 ! lethal congenital contracture syndrome [Term] id: DOID:0060560 name: lethal congenital contracture syndrome 2 def: "A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15378541, url:https\://www.ncbi.nlm.nih.gov/pubmed/17701904] subset: DO_rare_slim synonym: "LCCS2" EXACT OMO:0003012 [] synonym: "multiple contracture syndrome, Israeli-Bedouin type" EXACT [] xref: GARD:9177 xref: MESH:C564369 xref: MIM:607598 xref: ORDO:137776 is_a: DOID:0060558 ! lethal congenital contracture syndrome [Term] id: DOID:0060561 name: obsolete DMD-related dilated cardiomyopathy def: "A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene." [url:https\://ghr.nlm.nih.gov/condition/dmd-associated-dilated-cardiomyopathy] is_obsolete: true [Term] id: DOID:0060562 name: anomalous left coronary artery from the pulmonary artery def: "A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus." [url:https\://en.wikipedia.org/wiki/Anomalous_left_coronary_artery_from_the_pulmonary_artery] synonym: "ALCAPA" EXACT OMO:0003012 [] synonym: "Bland-White-Garland syndrome" EXACT [] synonym: "White-Garland syndrome" EXACT [] xref: MESH:D063748 is_a: DOID:11843 ! coronary artery anomaly [Term] id: DOID:0060563 name: Char syndrome def: "A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits." [url:https\://pubmed.ncbi.nlm.nih.gov/10368122/] subset: DO_rare_slim xref: GARD:1237 xref: MESH:C566815 xref: MIM:169100 is_a: DOID:13832 ! patent ductus arteriosus [Term] id: DOID:0060564 name: spinal disease def: "A bone disease that is located_in the spine." [url:https\://en.wikipedia.org/wiki/Spinal_disease] is_a: DOID:0080001 ! bone disease [Term] id: DOID:0060565 name: Ritscher-Schinzel syndrome def: "A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies." [url:https\://en.wikipedia.org/wiki/3C_syndrome] subset: DO_rare_slim synonym: "CCC dysplasia" EXACT [] synonym: "craniocerebellocardiac dysplasia" EXACT [] xref: MESH:C535313 xref: MIM:PS220210 xref: ORDO:7 xref: SNOMEDCT_US_2023_03_01:718556007 xref: UMLS_CUI:C0796137 is_a: DOID:0050177 ! monogenic disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060566 name: Holzgreve-Wagner-Rehder Syndrome def: "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3232694] subset: DO_rare_slim synonym: "Holzgreve syndrome" EXACT [] synonym: "Holzgreve Wagner Rehder Syndrome" EXACT [] xref: MESH:C535327 xref: MIM:236110 xref: ORDO:2167 xref: SNOMEDCT_US_2023_03_01:783159001 xref: UMLS_CUI:C1856095 is_a: DOID:225 ! syndrome [Term] id: DOID:0060567 name: erythema elevatum diutinum def: "A vasculitis characterized by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks." [url:http\://www.dermnetnz.org/vascular/erythema-elevatum-diutinum.html] subset: DO_rare_slim xref: GARD:8653 xref: ICD10CM:L95.1 xref: MESH:C535509 xref: ORDO:90000 xref: SNOMEDCT_US_2023_03_01:201300002 xref: UMLS_CUI:C0263398 is_a: DOID:865 ! vasculitis [Term] id: DOID:0060569 name: hypertrichotic osteochondrodysplasia Cantu type def: "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly." [url:https\://en.wikipedia.org/wiki/Cant%C3%BA_syndrome, url:https\://ghr.nlm.nih.gov/condition/cantu-syndrome] subset: DO_rare_slim synonym: "Cantu syndrome" EXACT [] xref: GARD:8585 xref: MESH:C535572 xref: MIM:239850 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0060570 name: cardiac tuberculosis def: "A tuberculosis located in the heart." [url:https\://pubmed.ncbi.nlm.nih.gov/28814447/] subset: DO_infectious_disease_slim synonym: "cardiovascular tuberculosis" NARROW [] xref: MESH:D014381 is_a: DOID:114 ! heart disease is_a: DOID:399 ! tuberculosis [Term] id: DOID:0060571 name: Ritscher-Schinzel syndrome 1 def: "A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24065355] subset: DO_rare_slim xref: MIM:220210 xref: ORDO:7 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060565 ! Ritscher-Schinzel syndrome [Term] id: DOID:0060572 name: Ritscher-Schinzel syndrome 2 def: "A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24916641] subset: DO_rare_slim xref: MIM:300963 xref: ORDO:7 is_a: DOID:0060565 ! Ritscher-Schinzel syndrome is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060573 name: von Willebrand's disease 1 def: "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16889557, url:https\://www.ncbi.nlm.nih.gov/pubmed/8456432] subset: NCIthesaurus synonym: "von Willebrand disease type 1" EXACT [] synonym: "von Willebrand disease type I" EXACT [] synonym: "VWD type 1" EXACT [] synonym: "VWD1" EXACT OMO:0003012 [] xref: ICD10CM:D68.01 xref: MESH:D056725 xref: MIM:193400 xref: NCI:C131685 xref: SNOMEDCT_US_2023_03_01:128106003 xref: UMLS_CUI:C1264039 is_a: DOID:12531 ! von Willebrand's disease [Term] id: DOID:0060574 name: von Willebrand's disease 2 def: "A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20409624] subset: DO_rare_slim synonym: "von Willebrand disease type 2" EXACT [] synonym: "von Willebrand disease type II" EXACT [] synonym: "VWD type 2" EXACT [] synonym: "VWD2" EXACT OMO:0003012 [] xref: ICD10CM:D68.02 xref: MESH:D056728 xref: MIM:613554 xref: ORDO:166081 xref: SNOMEDCT_US_2023_03_01:128107007 xref: UMLS_CUI:C1264040 is_a: DOID:12531 ! von Willebrand's disease [Term] id: DOID:0060575 name: 3MC syndrome 1 def: "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27." [url:https\://ghr.nlm.nih.gov/condition/3mc-syndrome, url:https\://www.omim.org/entry/257920] xref: MIM:257920 is_a: DOID:0060225 ! 3MC syndrome [Term] id: DOID:0060576 name: 3MC syndrome 2 def: "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25." [url:https\://ghr.nlm.nih.gov/condition/3mc-syndrome, url:https\://www.omim.org/entry/265050] xref: MIM:265050 is_a: DOID:0060225 ! 3MC syndrome disjoint_from: DOID:0060577 ! 3MC syndrome 3 [Term] id: DOID:0060577 name: 3MC syndrome 3 def: "A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21258343] xref: MIM:248340 is_a: DOID:0060225 ! 3MC syndrome [Term] id: DOID:0060578 name: Noonan syndrome 1 alt_id: DOID:0070101 def: "A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18203203] synonym: "NS1" EXACT OMO:0003012 [] xref: ICD10CM:Q87.1 xref: MIM:163950 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060580 name: Noonan syndrome 2 alt_id: DOID:0070102 def: "A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/5782826] synonym: "NS2" EXACT OMO:0003012 [] xref: ICD10CM:Q87.1 xref: MESH:C548081 xref: MIM:605275 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060581 name: Noonan syndrome 3 alt_id: DOID:0070103 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16474405] synonym: "NS3" EXACT OMO:0003012 [] xref: ICD10CM:Q87.1 xref: MESH:C537847 xref: MIM:609942 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060582 name: Noonan syndrome 4 alt_id: DOID:0070104 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19438935] synonym: "NS4" EXACT OMO:0003012 [] xref: ICD10CM:Q87.1 xref: MESH:C548082 xref: MIM:610733 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060583 name: Noonan syndrome 5 alt_id: DOID:0070105 def: "A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17603483] synonym: "NS5" EXACT OMO:0003012 [] xref: ICD10CM:Q87.1 xref: MESH:C548083 xref: MIM:611553 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060584 name: Noonan syndrome 6 alt_id: DOID:0070106 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19966803] synonym: "NS6" EXACT OMO:0003012 [] xref: ICD10CM:Q87.1 xref: MESH:C548084 xref: MIM:613224 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060585 name: Noonan syndrome 7 alt_id: DOID:0070107 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19206169] synonym: "NS7" EXACT OMO:0003012 [] xref: ICD10CM:Q87.1 xref: MIM:613706 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060586 name: Noonan syndrome 8 alt_id: DOID:0070108 def: "A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24939608, url:https\://www.ncbi.nlm.nih.gov/pubmed/25124994] synonym: "NS8" EXACT OMO:0003012 [] xref: ICD10CM:Q87.1 xref: MIM:615355 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060587 name: Noonan syndrome 9 alt_id: DOID:0070109 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25795793] synonym: "NS9" EXACT OMO:0003012 [] xref: ICD10CM:Q87.1 xref: MIM:616559 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060588 name: Noonan syndrome 10 alt_id: DOID:0070110 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25795793] synonym: "NS10" EXACT OMO:0003012 [] xref: ICD10CM:Q87.1 xref: MIM:616564 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060589 name: Yunis-Varon syndrome def: "A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23623387] subset: DO_rare_slim synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia" EXACT [] synonym: "cleidocranial dysplasia-micrognathia-absent thumbs syndrome" EXACT [] xref: GARD:331 xref: MESH:C536719 xref: MIM:216340 xref: UMLS_CUI:C1857663 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060590 name: XFE progeroid syndrome def: "A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17183314] subset: DO_rare_slim synonym: "XFEPS" EXACT OMO:0003012 [] synonym: "XPF-ERCC1 progeroid syndrome" EXACT [] xref: GARD:10628 xref: MESH:C567043 xref: MIM:610965 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081332 ! progeroid syndrome [Term] id: DOID:0060591 name: WHIM syndrome 1 def: "An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22." [url:https\://en.wikipedia.org/wiki/WHIM_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/10767001] subset: DO_rare_slim subset: NCIthesaurus synonym: "warts, hypogammaglobulinemia, infections, and myelokathexis" EXACT [] synonym: "warts-hypogammaglobulinemia-infections-myelokathexis syndrome" EXACT [] synonym: "WHIMS" EXACT OMO:0003012 [] xref: GARD:9297 xref: MESH:C536697 xref: MIM:193670 xref: NCI:C176819 xref: SNOMEDCT_US_2023_03_01:234571003 xref: UMLS_CUI:C0472817 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0060592 name: B-cell adult acute lymphocytic leukemia def: "An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9143] subset: DO_cancer_slim subset: NCIthesaurus synonym: "adult B acute lymphoblastic leukaemia" EXACT [] synonym: "adult B acute lymphoblastic leukemia" EXACT [] synonym: "adult b-cell acute lymphoblastic leukaemia" EXACT [] synonym: "adult b-cell acute lymphoblastic leukemia" EXACT [] synonym: "adult b-cell lymphocytic leukaemia" EXACT [] synonym: "adult b-cell lymphocytic leukemia" EXACT [] synonym: "adult B-lymphoblastic leukaemia" EXACT [] synonym: "adult B-lymphoblastic leukemia" EXACT [] synonym: "B-cell adult acute lymphocytic leukaemia" EXACT [] xref: NCI:C9143 is_a: DOID:0060058 ! lymphoma is_a: DOID:5604 ! adult acute lymphocytic leukemia [Term] id: DOID:0060597 name: atypical chronic myeloid leukemia, BCR-ABL1 negative alt_id: DOID:8747 def: "A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519, url:https\://www.ncbi.nlm.nih.gov/pubmed/29226717] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "aCML" EXACT OMO:0003012 [] synonym: "atypical chronic myeloid leukaemia" EXACT [] synonym: "atypical chronic myeloid leukaemia BCR-ABL1 negative" EXACT [] synonym: "atypical chronic myeloid leukemia BCR-ABL1 negative" EXACT [] synonym: "atypical CML" EXACT [] synonym: "subacute myeloid leukemia" EXACT [] xref: ICD10CM:C92.2 xref: ICD9CM:205.2 xref: ICDO:9876/3 xref: MESH:D054438 xref: NCI:C3519 xref: ORDO:98824 xref: SNOMEDCT_US_2023_03_01:128826001 xref: UMLS_CUI:C1292772 is_a: DOID:4972 ! myelodysplastic/myeloproliferative neoplasm [Term] id: DOID:0060599 name: Nance-Horan syndrome def: "A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies." [url:https\://en.wikipedia.org/wiki/Nance-Horan_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/2246772, url:https\://www.ncbi.nlm.nih.gov/pubmed/6467651] subset: DO_rare_slim xref: GARD:7161 xref: MESH:C538336 xref: MIM:302350 xref: ORDO:627 xref: SNOMEDCT_US_2023_03_01:445257004 xref: UMLS_CUI:C0796085 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060600 name: obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum is_obsolete: true [Term] id: DOID:0060601 name: alpha-2-plasmin inhibitor deficiency def: "A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11472338, url:https\://www.ncbi.nlm.nih.gov/pubmed/156196] subset: DO_rare_slim synonym: "antiplasmin defiency" EXACT [] synonym: "plasmin inhibitor deficiency" EXACT [] xref: ICD10CM:D68.8 xref: MIM:262850 xref: ORDO:79 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2213 ! hemorrhagic disease [Term] id: DOID:0060602 name: alpha-methylacyl-CoA racemase deficiency def: "A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11861706] synonym: "AMACR deficiency" EXACT [] xref: MESH:C565768 xref: MIM:614307 is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0060603 name: isolated anhidrosis with normal sweat glands def: "An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2401610] synonym: "Dann-Epstein-Sohar syndrome" EXACT [] xref: MIM:106190 is_a: DOID:11156 ! anhidrosis [Term] id: DOID:0060604 name: ankyloglossia def: "A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth." [url:https\://en.wikipedia.org/wiki/Ankyloglossia, url:https\://www.ncbi.nlm.nih.gov/pubmed/18983637, url:https\://www.ncbi.nlm.nih.gov/pubmed/5251442] synonym: "tongue-tie" EXACT [] xref: ICD10CM:Q38.1 xref: MESH:D000072676 xref: MIM:106280 is_a: DOID:10944 ! tongue disease property_value: exactMatch "MESH:D000072676" xsd:string [Term] id: DOID:0060605 name: obsolete anterior segment mesenchymal dysgenesis def: "An eye disease that is characterized by impaired development of the anterior segment of the eye." [] is_obsolete: true [Term] id: DOID:0060606 name: fetal nicotine spectrum disorder def: "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905398/, url:https\://www.ncbi.nlm.nih.gov/pubmed/20363831] is_a: DOID:0060038 ! specific developmental disorder [Term] id: DOID:0060608 name: microcephalic osteodysplastic primordial dwarfism type I def: "An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2." [url:http\://omim.org/entry/210710, url:https\://www.ncbi.nlm.nih.gov/pubmed/22302400] subset: DO_rare_slim synonym: "brachymelic primordial dwarfism" EXACT [] synonym: "cephaloskeletal dysplasia" EXACT [] synonym: "low-birth-weight dwarfism with skeletal dysplasia" EXACT [] synonym: "osteodysplastic primordial dwarfism type I" EXACT [] synonym: "Taybi-Linder syndrome" EXACT [] xref: GARD:5120 xref: ICD10CM:Q87.1 xref: MESH:C537577 xref: MIM:210710 xref: ORDO:2636 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0060609 name: microcephalic osteodysplastic primordial dwarfism type II def: "An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly." [url:http\://omim.org/entry/210720, url:https\://www.ncbi.nlm.nih.gov/pubmed/7551160] subset: DO_rare_slim synonym: "Majewski osteodysplastic primordial dwarfism type II" EXACT [] synonym: "osteodysplastic primordial dwarfism type II" EXACT [] xref: ICD10CM:Q87.1 xref: MESH:C565898 xref: MIM:210720 xref: ORDO:2637 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0060610 name: megacystis-microcolon-intestinal hypoperistalsis syndrome def: "A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis." [url:https\://en.wikipedia.org/wiki/Berdon_syndrome, url:https\://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/21792650, url:https\://www.ncbi.nlm.nih.gov/pubmed/25407000] subset: DO_rare_slim subset: NCIthesaurus synonym: "Berdon syndrome" EXACT [] synonym: "Megacystis microcolon intestinal hypoperistalsis syndrome" EXACT [] synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH" EXACT [] synonym: "visceral myopathy" EXACT [] xref: MESH:C536138 xref: MIM:155310 xref: NCI:C98982 xref: ORDO:2241 xref: SNOMEDCT_US_2023_03_01:253781004 xref: UMLS_CUI:C1608393 is_a: DOID:225 ! syndrome [Term] id: DOID:0060611 name: abdominal obesity-metabolic syndrome def: "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease." [url:https\://pubmed.ncbi.nlm.nih.gov/17167477/] subset: DO_rare_slim xref: GARD:9226 xref: MESH:C535554 xref: MIM:PS605552 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060612 name: abdominal obesity-metabolic syndrome 3 def: "An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13." [url:http\://omim.org/entry/615812, url:https\://www.ncbi.nlm.nih.gov/pubmed/24827035] xref: MIM:615812 is_a: DOID:0060611 ! abdominal obesity-metabolic syndrome [Term] id: DOID:0060613 name: X-linked cleft palate with or without ankyloglossia def: "A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14729838] subset: DO_rare_slim synonym: "X-linked cleft palate and ankyloglossia" EXACT [] xref: MIM:303400 xref: ORDO:324601 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:674 ! cleft palate [Term] id: DOID:0060614 name: ulnar-mammary syndrome def: "A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8595424, url:https\://www.ncbi.nlm.nih.gov/pubmed/8923944] subset: DO_rare_slim synonym: "Pallister ulnar-mammary syndrome" EXACT [] synonym: "Schinzel syndrome" EXACT [] xref: GARD:118 xref: MESH:C536937 xref: MIM:181450 xref: ORDO:3138 xref: SNOMEDCT_US_2023_03_01:700211007 xref: UMLS_CUI:C1866994 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060638 name: neonatal diabetes mellitus with congenital hypothyroidism def: "A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16715098] subset: DO_rare_slim synonym: "NDH syndrome" EXACT [] xref: MIM:610199 xref: ORDO:79118 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:11717 ! neonatal diabetes [Term] id: DOID:0060639 name: permanent neonatal diabetes mellitus def: "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17213273] subset: DO_rare_slim synonym: "PDMI" EXACT OMO:0003012 [] synonym: "permanent diabetes mellitus of infancy" EXACT [] synonym: "PNDM" EXACT OMO:0003012 [] xref: GARD:10457 xref: MIM:606176 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11717 ! neonatal diabetes [Term] id: DOID:0060640 name: ethylmalonic encephalopathy def: "A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13." [url:https\://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy, url:https\://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/20528888] subset: DO_rare_slim xref: GARD:2198 xref: MESH:C535737 xref: MIM:602473 xref: ORDO:51188 xref: SNOMEDCT_US_2023_03_01:723307008 xref: UMLS_CUI:C1865349 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0060641 name: endocrine-cerebro-osteodysplasia syndrome def: "A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19185282, url:https\://www.ncbi.nlm.nih.gov/pubmed/24853502] subset: DO_rare_slim synonym: "ECO syndrome" EXACT [] xref: ICD10CM:Q87.8 xref: MIM:612651 xref: ORDO:199332 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060642 name: recessive dystrophic epidermolysis bullosa def: "An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21." [url:https\://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa, url:https\://www.ncbi.nlm.nih.gov/pubmed/3307723, url:https\://www.ncbi.nlm.nih.gov/pubmed/8513326] subset: DO_rare_slim synonym: "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis" EXACT [] synonym: "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type" EXACT [] synonym: "RDEB, Hallopeau-Siemens type" EXACT [] synonym: "severe generalized RDEB" NARROW [] synonym: "severe generalized recessive dystrophic epidermolysis bullosa" NARROW [] xref: ICD10CM:Q81.2 xref: MIM:226600 xref: ORDO:79408 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4959 ! epidermolysis bullosa dystrophica [Term] id: DOID:0060643 name: primary sclerosing cholangitis def: "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7877651] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:1280 xref: ICD10CM:K83.01 xref: MESH:D015209 xref: MIM:613806 xref: NCI:C4828 xref: ORDO:171 xref: SNOMEDCT_US_2023_03_01:4032000 xref: UMLS_CUI:C0566602 is_a: DOID:14268 ! sclerosing cholangitis [Term] id: DOID:0060644 name: chondrodysplasia-pseudohermaphroditism syndrome def: "A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1342874] subset: DO_rare_slim synonym: "chondrodysplasia-disorder of sex development syndrome" EXACT [] synonym: "Nivelon-Nivelon-Mabille syndrome" EXACT [] xref: MESH:C536123 xref: MIM:600092 xref: ORDO:1422 xref: SNOMEDCT_US_2023_03_01:720851007 xref: UMLS_CUI:C1838654 is_a: DOID:225 ! syndrome [Term] id: DOID:0060645 name: chronic recurrent multifocal osteomyelitis def: "An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine." [url:https\://en.wikipedia.org/wiki/Chronic_recurrent_multifocal_osteomyelitis, url:https\://www.ncbi.nlm.nih.gov/pubmed/11973628, url:https\://www.ncbi.nlm.nih.gov/pubmed/4403064, url:https\://www.nomidalliance.org/crmo.php] subset: DO_infectious_disease_slim subset: DO_rare_slim synonym: "chronic multifocal osteomyelitis" EXACT [] synonym: "CRMO" EXACT OMO:0003012 [] xref: ICD10CM:M86.3 xref: MESH:C535456 xref: MIM:259680 xref: ORDO:324964 is_a: DOID:0060564 ! spinal disease is_a: DOID:1019 ! osteomyelitis [Term] id: DOID:0060646 name: congenital chylothorax def: "A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life." [url:https\://en.wikipedia.org/wiki/Chylothorax, url:https\://www.ncbi.nlm.nih.gov/pubmed/416049] subset: DO_rare_slim xref: MIM:603523 xref: ORDO:264688 is_a: DOID:0080015 ! physical disorder is_a: DOID:1532 ! pleural disease [Term] id: DOID:0060647 name: fetal encasement syndrome def: "A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20961246] subset: DO_rare_slim synonym: "cocoon syndrome" EXACT [] xref: MIM:613630 xref: ORDO:465824 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060648 name: anterior segment dysgenesis alt_id: DOID:0060605 def: "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye." [url:https\://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis, url:https\://www.ncbi.nlm.nih.gov/pubmed/17914436, url:https\://www.ncbi.nlm.nih.gov/pubmed/30242500] subset: DO_rare_slim synonym: "anterior segment developmental anomaly" EXACT [] synonym: "corneal opacification and other ocular anomalies" EXACT [] synonym: "sclerocornea with other ocular anomalies" EXACT [] xref: GARD:10025 xref: ICD10CM:Q13.8 xref: MIM:PS107250 xref: ORDO:88632 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5614 ! eye disease [Term] id: DOID:0060649 name: congenital hereditary endothelial dystrophy of cornea def: "A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16767101] synonym: "CHED" EXACT OMO:0003012 [] xref: MIM:217700 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060443 ! corneal endothelial dystrophy is_a: DOID:0080015 ! physical disorder [Term] id: DOID:0060650 name: dicarboxylic aminoaciduria def: "An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids." [url:https\://pubmed.ncbi.nlm.nih.gov/18200002/] subset: DO_rare_slim synonym: "glutamate-aspartate transport defect" EXACT [] xref: GARD:1855 xref: MESH:C536171 xref: MIM:222730 xref: ORDO:2195 xref: SNOMEDCT_US_2023_03_01:716747007 xref: UMLS_CUI:C1857253 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060651 name: MYH-9 related disease def: "A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract." [url:https\://ghr.nlm.nih.gov/condition/myh9-related-disorder, url:https\://www.ncbi.nlm.nih.gov/pubmed/21567368] subset: DO_rare_slim xref: ICD10CM:D69.4 xref: MIM:155100 xref: ORDO:182050 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0060652 name: familial erythrocytosis 1 def: "A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9292543] subset: DO_rare_slim synonym: "autosomal dominant benign erythrocytosis" EXACT [] synonym: "ECYT1" EXACT OMO:0003012 [] synonym: "primary familial and congenital polycythemia" EXACT [] xref: ICD10CM:D75.0 xref: MIM:133100 xref: ORDO:90042 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0060653 name: lethal congenital contracture syndrome 3 def: "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17701898] subset: DO_rare_slim synonym: "Israeli Bedouin type B multiple contracture syndrome" EXACT [] xref: MIM:611369 xref: ORDO:137783 is_a: DOID:0060558 ! lethal congenital contracture syndrome property_value: exactMatch "MIM:611369" xsd:string [Term] id: DOID:0060654 name: lethal congenital contracture syndrome 4 def: "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22610851] subset: DO_rare_slim xref: GARD:12645 xref: MIM:614915 is_a: DOID:0060558 ! lethal congenital contracture syndrome property_value: exactMatch "MIM:614915" xsd:string [Term] id: DOID:0060655 name: autosomal recessive congenital ichthyosis alt_id: DOID:1699 def: "An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization." [url:https\://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance, url:https\://www.ncbi.nlm.nih.gov/books/NBK1420/, url:https\://www.ncbi.nlm.nih.gov/pubmed/20643494] subset: DO_rare_slim subset: NCIthesaurus synonym: "ARCI" EXACT OMO:0003012 [] synonym: "lamellar ichthyosis" EXACT [] synonym: "non bullous congenital ichthyosiform erythroderma" EXACT [] xref: ICD10CM:Q80.2 xref: MESH:D017490 xref: MIM:PS242300 xref: NCI:C84805 xref: ORDO:281097 xref: SNOMEDCT_US_2023_03_01:12215009 xref: UMLS_CUI:C0079154 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:1697 ! ichthyosis [Term] id: DOID:0060656 name: autosomal recessive congenital ichthyosis 1 def: "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7824952] subset: DO_rare_slim synonym: "ARCI1" EXACT OMO:0003012 [] synonym: "bathing suit ichthyosis" NARROW [] xref: GARD:3170 xref: ICD10CM:Q80.2 xref: MIM:242300 xref: ORDO:100976 xref: ORDO:281122 xref: ORDO:313 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060668 name: anencephaly def: "A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp." [url:https\://en.wikipedia.org/wiki/Anencephaly, url:https\://ghr.nlm.nih.gov/condition/anencephaly] subset: DO_rare_slim xref: GARD:5808 xref: ICD10CM:Q00.0 xref: MESH:D000757 xref: MIM:206500 xref: ORDO:1048 is_a: DOID:2490 ! congenital nervous system abnormality property_value: exactMatch "MESH:D000757" xsd:string [Term] id: DOID:0060669 name: cerebral cavernous malformation def: "A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support." [url:http\://hmg.oxfordjournals.org/content/18/5/919.long, url:https\://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation] subset: DO_rare_slim synonym: "cavernous angiomatous malformations" EXACT [] synonym: "cerebral capillary malformations" EXACT [] synonym: "familial cavernous angioma" EXACT [] xref: MIM:PS116860 is_a: DOID:6713 ! cerebrovascular disease property_value: exactMatch "MIM:PS116860" xsd:string [Term] id: DOID:0060670 name: cerebral cavernous malformation 2 def: "A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14624391] subset: DO_rare_slim xref: ICD10CM:Q28.3 xref: MIM:603284 xref: ORDO:221061 is_a: DOID:0060669 ! cerebral cavernous malformation [Term] id: DOID:0060671 name: cerebral cavernous malformation 3 def: "A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15543491] subset: DO_rare_slim xref: ICD10CM:Q28.3 xref: MIM:603285 xref: ORDO:221061 is_a: DOID:0060669 ! cerebral cavernous malformation [Term] id: DOID:0060672 name: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions def: "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16862116, url:https\://www.ncbi.nlm.nih.gov/pubmed/16983677] xref: ICD10CM:G31.0 xref: MIM:607485 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:0060673 name: Peters anomaly def: "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11403040, url:https\://www.ncbi.nlm.nih.gov/pubmed/12614756, url:https\://www.ncbi.nlm.nih.gov/pubmed/8162071] subset: DO_rare_slim xref: GARD:7377 xref: ICD10CM:Q13.4 xref: MESH:C537884 xref: MIM:604229 xref: ORDO:708 is_a: DOID:10124 ! corneal disease [Term] id: DOID:0060674 name: catecholaminergic polymorphic ventricular tachycardia def: "A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1289, url:https\://www.ncbi.nlm.nih.gov/pubmed/17875969] subset: DO_rare_slim xref: ICD10CM:I47.2 xref: MIM:PS604772 xref: ORDO:3286 is_a: DOID:0050177 ! monogenic disease is_a: DOID:10273 ! heart conduction disease [Term] id: DOID:0060675 name: catecholaminergic polymorphic ventricular tachycardia 1 alt_id: DOID:0110071 def: "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12093772, url:https\://www.ncbi.nlm.nih.gov/pubmed/17875969] synonym: "arrhythmogenic right ventricular dysplasia 2" EXACT [] synonym: "CVPT1" EXACT OMO:0003012 [] xref: ICD10CM:I42.8 xref: ICD10CM:I47.2 xref: MIM:604772 is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia [Term] id: DOID:0060676 name: catecholaminergic polymorphic ventricular tachycardia 2 def: "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11401939] synonym: "CVPT2" EXACT OMO:0003012 [] xref: ICD10CM:I47.2 xref: MIM:611938 is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia [Term] id: DOID:0060677 name: catecholaminergic polymorphic ventricular tachycardia 3 def: "A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17666061] synonym: "CVPT3" EXACT OMO:0003012 [] xref: ICD10CM:I47.2 xref: MIM:614021 is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia [Term] id: DOID:0060678 name: catecholaminergic polymorphic ventricular tachycardia 4 def: "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23040497] synonym: "CVPT4" EXACT OMO:0003012 [] xref: ICD10CM:I47.2 xref: MIM:614916 is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia [Term] id: DOID:0060679 name: catecholaminergic polymorphic ventricular tachycardia 5 def: "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22422768] synonym: "CVPT5" EXACT OMO:0003012 [] xref: ICD10CM:I47.2 xref: MIM:615441 is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia [Term] id: DOID:0060680 name: pigment dispersion syndrome def: "An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10192392, url:https\://www.ncbi.nlm.nih.gov/pubmed/3947295] synonym: "glaucoma-related pigment dispersion syndrome" EXACT [] synonym: "pigment-dispersion type glaucoma" EXACT [] xref: MESH:C563184 xref: MIM:600510 is_a: DOID:5614 ! eye disease [Term] id: DOID:0060681 name: autosomal dominant nocturnal frontal lobe epilepsy def: "A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7895015] subset: DO_rare_slim synonym: "ENFL" EXACT OMO:0003012 [] xref: GARD:11918 xref: MESH:C579932 xref: MIM:PS600513 xref: ORDO:98784 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3331 ! frontal lobe epilepsy [Term] id: DOID:0060682 name: autosomal dominant nocturnal frontal lobe epilepsy 1 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7550350] subset: DO_rare_slim synonym: "ENFL1" EXACT OMO:0003012 [] synonym: "nocturnal frontal lobe epilepsy 1" EXACT [] xref: MIM:600513 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060683 name: autosomal dominant nocturnal frontal lobe epilepsy 2 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9758605] subset: DO_rare_slim synonym: "ENFL2" EXACT OMO:0003012 [] synonym: "nocturnal frontal lobe epilepsy 2" EXACT [] xref: MIM:603204 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060684 name: autosomal dominant nocturnal frontal lobe epilepsy 3 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11062464] subset: DO_rare_slim synonym: "ENFL3" EXACT OMO:0003012 [] synonym: "nocturnal frontal lobe epilepsy 3" EXACT [] xref: MIM:605375 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060685 name: autosomal dominant nocturnal frontal lobe epilepsy 4 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16826524] subset: DO_rare_slim synonym: "ENFL4" EXACT OMO:0003012 [] synonym: "nocturnal frontal lobe epilepsy 4" EXACT [] xref: MIM:610353 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060686 name: autosomal dominant nocturnal frontal lobe epilepsy 5 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23086396] subset: DO_rare_slim synonym: "ENFL5" EXACT OMO:0003012 [] synonym: "nocturnal frontal lobe epilepsy 5" EXACT [] xref: MIM:615005 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060688 name: arteriovenous malformations of the brain def: "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7193302] subset: DO_rare_slim synonym: "cerebral arteriovenous malformation" EXACT [] synonym: "intracranial arteriovenous malformation" EXACT [] xref: ICD10CM:Q28.2 xref: MESH:D002538 xref: MIM:108010 xref: ORDO:46724 xref: UMLS_CUI:C0007772 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:255 ! hemangioma is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:0060689 name: atrichia with papular lesions def: "An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10205263] subset: DO_rare_slim synonym: "papular atrichia" EXACT [] xref: ICD10CM:L65.8 xref: MESH:C565924 xref: MIM:209500 xref: ORDO:86819 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:987 ! alopecia [Term] id: DOID:0060690 name: autosomal dominant auditory neuropathy 1 def: "An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15520414, url:https\://www.ncbi.nlm.nih.gov/pubmed/20624953] synonym: "AUNA1" EXACT OMO:0003012 [] synonym: "nonsyndromic dominant auditory neuropathy" EXACT [] synonym: "NSDAN" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:609129 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0060691 name: platelet-type bleeding disorder 16 def: "A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18065693, url:https\://www.ncbi.nlm.nih.gov/pubmed/21454453, url:https\://www.ncbi.nlm.nih.gov/pubmed/9834222] subset: DO_rare_slim synonym: "autosomal dominant Glanzmann thrombasthenia" EXACT [] synonym: "autosomal dominant thrombasthenia of Glanzmann and Naegeli" EXACT [] xref: ICD10CM:D69.4 xref: MIM:187800 xref: ORDO:140957 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2218 ! blood platelet disease disjoint_from: DOID:0060692 ! platelet-type bleeding disorder 8 [Term] id: DOID:0060692 name: platelet-type bleeding disorder 8 def: "A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11196645, url:https\://www.ncbi.nlm.nih.gov/pubmed/20966167] subset: DO_rare_slim synonym: "ADP platelet receptor P2Y12 defect" EXACT [] synonym: "P2Y12 defect" EXACT [] xref: ICD10CM:D69.8 xref: MIM:609821 xref: ORDO:36355 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0060693 name: Brunner Syndrome def: "An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8211186, url:https\://www.ncbi.nlm.nih.gov/pubmed/8503438] subset: DO_rare_slim synonym: "monoamine oxidase A deficiency" EXACT [] xref: ICD10CM:E70.8 xref: MESH:C563156 xref: MIM:300615 xref: ORDO:3057 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060694 name: Cayman type cerebellar ataxia def: "An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14556008, url:https\://www.ncbi.nlm.nih.gov/pubmed/8845847] subset: DO_rare_slim synonym: "Cayman cerebellar ataxia" EXACT [] xref: ICD10CM:G11.0 xref: MESH:C563363 xref: MIM:601238 xref: ORDO:94122 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0060695 name: hyperekplexia def: "A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12427512, url:https\://www.ncbi.nlm.nih.gov/pubmed/1334371] subset: DO_rare_slim synonym: "congenital stiff man syndrome" EXACT [] synonym: "familial startle disease" EXACT [] synonym: "hereditary hyperekplexia" EXACT [] synonym: "Kok disease" EXACT [] synonym: "startle disease" EXACT [] xref: GARD:3129 xref: ICD10CM:G25.8 xref: MESH:D000071017 xref: MIM:PS149400 xref: ORDO:3197 is_a: DOID:863 ! nervous system disease property_value: exactMatch "GARD:3129" xsd:string [Term] id: DOID:0060696 name: hyperekplexia 1 def: "A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7881416, url:https\://www.ncbi.nlm.nih.gov/pubmed/8298642] subset: DO_rare_slim synonym: "HKPX1" EXACT OMO:0003012 [] xref: ICD10CM:G25.8 xref: MESH:D000071017 xref: MIM:149400 xref: ORDO:3197 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060695 ! hyperekplexia [Term] id: DOID:0060697 name: hyperekplexia 2 def: "A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11929858, url:https\://www.ncbi.nlm.nih.gov/pubmed/21391991] subset: DO_rare_slim synonym: "HKPX2" EXACT OMO:0003012 [] xref: ICD10CM:G25.8 xref: MIM:614619 xref: ORDO:3197 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060695 ! hyperekplexia [Term] id: DOID:0060698 name: hyperekplexia 3 def: "A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16751771, url:https\://www.ncbi.nlm.nih.gov/pubmed/22700964] subset: DO_rare_slim synonym: "HKPX3" EXACT OMO:0003012 [] xref: ICD10CM:G25.8 xref: MIM:614618 xref: ORDO:3197 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060695 ! hyperekplexia [Term] id: DOID:0060699 name: familial hypocalciuric hypercalcemia def: "A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19809483] subset: DO_rare_slim synonym: "familial benign hypercalcemia" EXACT [] synonym: "familial benign hypocalciuric hypercalcemia" EXACT [] synonym: "FBH" EXACT OMO:0003012 [] synonym: "FBHH" EXACT OMO:0003012 [] synonym: "FHH" EXACT OMO:0003012 [] xref: GARD:10828 xref: ICD10CM:E83.5 xref: MIM:PS145980 xref: ORDO:405 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12678 ! hypercalcemia is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0060700 name: familial hypocalciuric hypercalcemia 1 def: "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7916660] subset: DO_rare_slim synonym: "familial benign hypercalcemia 1" EXACT [] synonym: "familial hypocalciuric hypercalcemia type I" EXACT [] synonym: "FHH type 1" EXACT [] synonym: "HHC1" EXACT OMO:0003012 [] synonym: "hypocalciuric hypercalcemia type I" EXACT [] xref: ICD10CM:E83.5 xref: MIM:145980 xref: ORDO:93372 is_a: DOID:0060699 ! familial hypocalciuric hypercalcemia [Term] id: DOID:0060701 name: familial hypocalciuric hypercalcemia 2 def: "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23802516] subset: DO_rare_slim synonym: "familial hypocalciuric hypercalcemia type 2" EXACT [] synonym: "FHH type 2" EXACT [] synonym: "HHC2" EXACT OMO:0003012 [] synonym: "hypocalciuric hypercalcemia type II" EXACT [] xref: GARD:9758 xref: ICD10CM:E83.5 xref: MIM:145981 xref: ORDO:101049 is_a: DOID:0060699 ! familial hypocalciuric hypercalcemia [Term] id: DOID:0060702 name: familial hypocalciuric hypercalcemia 3 def: "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23222959] subset: DO_rare_slim synonym: "familial hypocalciuric hypercalcemia type 3" EXACT [] synonym: "FHH type 3" EXACT [] synonym: "HHC3" EXACT OMO:0003012 [] synonym: "hypocalciuric hypercalcemia type III" EXACT [] xref: GARD:2878 xref: ICD10CM:E83.5 xref: MIM:600740 xref: ORDO:101050 is_a: DOID:0060699 ! familial hypocalciuric hypercalcemia [Term] id: DOID:0060703 name: Muenke Syndrome def: "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18000976, url:https\://www.ncbi.nlm.nih.gov/pubmed/9042914] subset: DO_rare_slim subset: NCIthesaurus synonym: "FGFR3-related craniosynostosis" EXACT [] xref: GARD:7097 xref: MESH:C537369 xref: MIM:602849 xref: NCI:C84904 xref: ORDO:53271 xref: SNOMEDCT_US_2023_03_01:440350001 xref: UMLS_CUI:C1864436 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:0060704 name: lymphoproliferative syndrome def: "A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection." [url:https\://www.ncbi.nlm.nih.gov/pubmed/198660, url:https\://www.ncbi.nlm.nih.gov/pubmed/22197273] subset: DO_rare_slim synonym: "Combined immunodeficiency due to ITK deficiency" EXACT [] xref: MIM:PS308240 xref: ORDO:538963 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0060705 name: X-linked lymphoproliferative syndrome 1 def: "A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6283885, url:https\://www.ncbi.nlm.nih.gov/pubmed/9771704] subset: DO_rare_slim synonym: "XLP1" EXACT OMO:0003012 [] xref: GARD:7906 xref: ICD10CM:D82.3 xref: MIM:308240 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060706 name: X-linked lymphoproliferative syndrome 2 def: "A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17080092] subset: DO_rare_slim synonym: "XIAP deficiency" EXACT [] synonym: "XLP2" EXACT OMO:0003012 [] xref: GARD:10916 xref: ICD10CM:D82.3 xref: MIM:300635 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060707 name: lymphoproliferative syndrome 1 def: "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19425169, url:https\://www.ncbi.nlm.nih.gov/pubmed/21109689] subset: DO_rare_slim synonym: "LPFS1" EXACT OMO:0003012 [] xref: ICD10CM:D47.9 xref: MIM:613011 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060704 ! lymphoproliferative syndrome [Term] id: DOID:0060708 name: lymphoproliferative syndrome 2 def: "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22197273, url:https\://www.ncbi.nlm.nih.gov/pubmed/22801960] subset: DO_rare_slim synonym: "CD27 deficiency" EXACT [] synonym: "LPFS2" EXACT OMO:0003012 [] xref: ICD10CM:D47.9 xref: MIM:615122 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060704 ! lymphoproliferative syndrome [Term] id: DOID:0060710 name: autosomal recessive congenital ichthyosis 2 def: "An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11773004, url:https\://www.ncbi.nlm.nih.gov/pubmed/16116617] subset: DO_rare_slim synonym: "ARCI2" EXACT OMO:0003012 [] synonym: "BROCQ congenital ichthyosiform erythroderma nonbullous form" EXACT [] synonym: "NCIE1" EXACT OMO:0003012 [] synonym: "nonbullous congenital ichthyosiform erythroderma 1" EXACT [] xref: ICD10CM:Q80.2 xref: MIM:242100 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060711 name: autosomal recessive congenital ichthyosis 3 def: "An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11398099, url:https\://www.ncbi.nlm.nih.gov/pubmed/11773004] subset: DO_rare_slim synonym: "ARCI3" EXACT OMO:0003012 [] synonym: "lamellar ichthyosis 5" EXACT [] xref: ICD10CM:Q80.2 xref: MIM:606545 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060712 name: autosomal recessive congenital ichthyosis 4A def: "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10094194, url:https\://www.ncbi.nlm.nih.gov/pubmed/20672373] subset: DO_rare_slim synonym: "ARCI4A" EXACT OMO:0003012 [] synonym: "ichthyosis congenita IIB" EXACT [] synonym: "ICR2B" EXACT OMO:0003012 [] synonym: "lamellar ichthyosis 2" EXACT [] xref: ICD10CM:Q80.2 xref: MIM:601277 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060713 name: autosomal recessive congenital ichthyosis 4B def: "An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35." [url:https\://ghr.nlm.nih.gov/condition/harlequin-ichthyosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/21339420] subset: DO_rare_slim synonym: "ARCI4B" EXACT OMO:0003012 [] synonym: "harlequin ichthyosis" EXACT [] synonym: "harlequin type ichthyosis congenita" EXACT [] synonym: "harlequin type ichthyosis fetalis" EXACT [] xref: ICD10CM:Q80.4 xref: MIM:242500 xref: ORDO:457 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060714 name: autosomal recessive congenital ichthyosis 5 def: "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10712223, url:https\://www.ncbi.nlm.nih.gov/pubmed/16436457] subset: DO_rare_slim synonym: "ARCI5" EXACT OMO:0003012 [] synonym: "autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis" EXACT [] xref: ICD10CM:Q80.2 xref: MIM:604777 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060715 name: autosomal recessive congenital ichthyosis 6 def: "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16436457, url:https\://www.ncbi.nlm.nih.gov/pubmed/17557927] subset: DO_rare_slim synonym: "ARCI6" EXACT OMO:0003012 [] xref: ICD10CM:Q80.2 xref: MIM:612281 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060716 name: autosomal recessive congenital ichthyosis 7 def: "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16117785] subset: DO_rare_slim synonym: "ARCI7" EXACT OMO:0003012 [] xref: ICD10CM:Q80.2 xref: MIM:615022 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060717 name: autosomal recessive congenital ichthyosis 8 def: "An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21439540] subset: DO_rare_slim synonym: "ARCI8" EXACT OMO:0003012 [] synonym: "lamellar ichthyosis 4" EXACT [] synonym: "late-onset lamellar ichthyosis" EXACT [] xref: ICD10CM:Q80.2 xref: MIM:613943 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060718 name: autosomal recessive congenital ichthyosis 9 def: "An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21093221, url:https\://www.ncbi.nlm.nih.gov/pubmed/23754960] subset: DO_rare_slim synonym: "ARCI9" EXACT OMO:0003012 [] xref: ICD10CM:Q80.2 xref: MIM:615023 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060719 name: autosomal recessive congenital ichthyosis 10 def: "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22246504] subset: DO_rare_slim synonym: "ARCI10" EXACT OMO:0003012 [] xref: ICD10CM:Q80.2 xref: MIM:615024 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060720 name: autosomal recessive congenital ichthyosis 11 def: "An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17273967, url:https\://www.ncbi.nlm.nih.gov/pubmed/18843291, url:https\://www.ncbi.nlm.nih.gov/pubmed/9450882] subset: DO_rare_slim synonym: "autosomal recessive ichthyosis with hypotrichosis" EXACT [] synonym: "hypotrichosis-congenital ichthyosis syndrome" EXACT [] synonym: "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis" EXACT [] synonym: "ichthyosis-follicular atrophoderma-hypotrichosis syndrome" EXACT [] synonym: "ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome" EXACT [] synonym: "ichthyosis-hypotrichosis syndrome" EXACT [] synonym: "IFAH syndrome" EXACT [] synonym: "IHS" EXACT OMO:0003012 [] xref: ICD10CM:Q80.8 xref: MIM:602400 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060728 name: congenital disorder of deglycosylation 1 def: "A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24651605, url:https\://www.ncbi.nlm.nih.gov/pubmed/27388694] subset: DO_rare_slim synonym: "congenital disorder of glycosylation type Iv" EXACT [] synonym: "deficiency of N-glycanase 1" EXACT [] synonym: "NGLY1-CDDG" EXACT OMO:0003012 [] synonym: "NGLY1-deficiency" EXACT [] xref: ICD10CM:E77.8 xref: MESH:C000626124 xref: MIM:615273 xref: ORDO:404454 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060991 ! congenital disorder of deglycosylation [Term] id: DOID:0060730 name: torsion dystonia 1 def: "A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11912106, url:https\://www.ncbi.nlm.nih.gov/pubmed/9288096] subset: DO_rare_slim synonym: "dystonia musculorum deformans" EXACT [] xref: ICD10CM:G24.1 xref: MIM:128100 xref: ORDO:256 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050835 ! generalized dystonia [Term] id: DOID:0060731 name: congenital central hypoventilation syndrome def: "An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11840487, url:https\://www.ncbi.nlm.nih.gov/pubmed/12640453, url:https\://www.ncbi.nlm.nih.gov/pubmed/8135282, url:https\://www.ncbi.nlm.nih.gov/pubmed/8696331] subset: DO_rare_slim synonym: "CCHS" EXACT OMO:0003012 [] synonym: "central congenital hypoventilation syndrome" EXACT [] synonym: "congenital central alveolar hypoventilation syndrome" EXACT [] synonym: "Ondine curse" EXACT [] synonym: "Ondine syndrome" EXACT [] xref: GARD:8535 xref: ICD10CM:G47.3 xref: MESH:C536209 xref: MIM:209880 xref: ORDO:661 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:11465 ! autonomic nervous system disease [Term] id: DOID:0060732 name: chromosome 9p deletion syndrome def: "A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18452192, url:https\://www.ncbi.nlm.nih.gov/pubmed/4541805, url:https\://www.ncbi.nlm.nih.gov/pubmed/6985017] subset: DO_rare_slim synonym: "9p syndrome" EXACT [] synonym: "Alfi syndrome" EXACT [] synonym: "monosomy 9p syndrome" EXACT [] xref: ICD10CM:Q93.5 xref: MESH:C538024 xref: MIM:158170 xref: ORDO:261112 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0060733 name: junctional epidermolysis bullosa with pyloric atresia def: "A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16473856, url:https\://www.ncbi.nlm.nih.gov/pubmed/7545057, url:https\://www.ncbi.nlm.nih.gov/pubmed/9185503] subset: DO_rare_slim synonym: "Carmi syndrome" EXACT [] synonym: "epidermolysis bullosa junctionalis with pyloric atresia" EXACT [] synonym: "JEB-PA" EXACT OMO:0003012 [] synonym: "junctional epidermolysis bullosa-pyloric atresia syndrome" EXACT [] xref: ICD10CM:Q81.8 xref: MIM:226730 xref: ORDO:79403 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3209 ! junctional epidermolysis bullosa [Term] id: DOID:0060735 name: epidermolysis bullosa simplex Dowling-Meara type def: "An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1369/, url:https\://www.ncbi.nlm.nih.gov/pubmed/1372711, url:https\://www.ncbi.nlm.nih.gov/pubmed/1717157, url:https\://www.ncbi.nlm.nih.gov/pubmed/18374450] subset: DO_rare_slim synonym: "EBS-gen sev" EXACT [] synonym: "EBSDM" EXACT OMO:0003012 [] synonym: "epidermolysis bullosa herpetiformis Dowling-Meara type" EXACT [] synonym: "epidermolysis bullosa simplex, herpetiformis" EXACT [] synonym: "generalized severe epidermolysis bullosa simplex" EXACT [] xref: ICD10CM:Q81.0 xref: MIM:131760 xref: ORDO:79396 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:0060736 name: epidermolysis bullosa simplex Ogna type def: "An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11851880] subset: DO_rare_slim synonym: "EBS-O" EXACT OMO:0003012 [] synonym: "EBS-Og" EXACT OMO:0003012 [] synonym: "EBSOG" EXACT OMO:0003012 [] xref: ICD10CM:Q81.0 xref: MIM:131950 xref: ORDO:79401 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:0060737 name: junctional epidermolysis bullosa Herlitz type def: "A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18374450, url:https\://www.ncbi.nlm.nih.gov/pubmed/8012393, url:https\://www.ncbi.nlm.nih.gov/pubmed/8586427] subset: DO_rare_slim synonym: "epidermolysis bullosa letalis" EXACT [] synonym: "Herlitz type epidermolysis bullosa junctionalis" EXACT [] synonym: "Herlitz-Pearson-type epidermolysis bullosa" EXACT [] synonym: "JEB-H" EXACT OMO:0003012 [] synonym: "JEB-Herlitz type" EXACT [] synonym: "junctional epidermolysis bullosa generalisata gravis" EXACT [] synonym: "junctional epidermolysis bullosa, Herlitz-Pearson type" EXACT [] xref: ICD10CM:Q81.1 xref: MIM:226700 xref: ORDO:79404 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3209 ! junctional epidermolysis bullosa [Term] id: DOID:0060738 name: junctional epidermolysis bullosa non-Herlitz type def: "A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10792571, url:https\://www.ncbi.nlm.nih.gov/pubmed/11810295, url:https\://www.ncbi.nlm.nih.gov/pubmed/18374450, url:https\://www.ncbi.nlm.nih.gov/pubmed/7550320, url:https\://www.ncbi.nlm.nih.gov/pubmed/7706760] subset: DO_rare_slim synonym: "GABEB" EXACT OMO:0003012 [] synonym: "generalized atrophic benign epidermolysis bullosa" EXACT [] synonym: "generalized junctional epidermolysis bullosa, non-Herlitz type" EXACT [] synonym: "JEB-nH gen" EXACT OMO:0003012 [] synonym: "JEN-nH" EXACT OMO:0003012 [] synonym: "junctional epidermolysis bullosa generalisata mitis" EXACT [] synonym: "junctional epidermolysis bullosa, Disentis type" EXACT [] xref: ICD10CM:Q81.8 xref: MIM:226650 xref: ORDO:79402 xref: ORDO:89840 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3209 ! junctional epidermolysis bullosa [Term] id: DOID:0060739 name: hand-foot-genital syndrome def: "A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/5450271, url:https\://www.ncbi.nlm.nih.gov/pubmed/9020844] subset: DO_rare_slim synonym: "hand-foot-uterus syndrome" EXACT [] synonym: "HFGS" EXACT OMO:0003012 [] xref: GARD:2594 xref: ICD10CM:Q51.2 xref: MIM:140000 xref: ORDO:2438 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060740 name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency def: "A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1975493, url:https\://www.ncbi.nlm.nih.gov/pubmed/1977311] subset: DO_rare_slim synonym: "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" EXACT [] synonym: "methylmalonic aciduria mut type" EXACT [] synonym: "vitamin B12-unresponsive methylmalonic aciduria" EXACT [] xref: ICD10CM:E71.1 xref: MESH:C565390 xref: MIM:251000 xref: ORDO:27 is_a: DOID:14749 ! methylmalonic acidemia [Term] id: DOID:0060741 name: methylmalonic acidemia due to transcobalamin receptor defect def: "A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20524213] subset: DO_rare_slim synonym: "methylmalonic acidemia, TCblR type" EXACT [] synonym: "methylmalonic aciduria due to transcobalamin receptor defect" EXACT [] xref: ICD10CM:E71.1 xref: MIM:613646 xref: ORDO:280183 is_a: DOID:14749 ! methylmalonic acidemia [Term] id: DOID:0060742 name: methylmalonic acidemia cblA type def: "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12438653, url:https\://www.ncbi.nlm.nih.gov/pubmed/5686220] subset: DO_rare_slim synonym: "methylmalonic aciduria cblA type" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type" EXACT [] xref: ICD10CM:E71.1 xref: MIM:251100 xref: ORDO:79310 is_a: DOID:14749 ! methylmalonic acidemia [Term] id: DOID:0060743 name: methylmalonic acidemia cblB type def: "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12471062, url:https\://www.ncbi.nlm.nih.gov/pubmed/7213387] subset: DO_rare_slim synonym: "methylmalonic aciduria cblB type" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type" EXACT [] xref: ICD10CM:E71.1 xref: MIM:251110 xref: ORDO:79311 is_a: DOID:14749 ! methylmalonic acidemia [Term] id: DOID:0060744 name: Pendred Syndrome def: "A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9398842] subset: DO_rare_slim subset: NCIthesaurus synonym: "congenital hypothyroidism due to dyshormonogenesis 2B" EXACT [] synonym: "deafness with goiter" EXACT [] synonym: "genetic defect in thyroid hormonogenesis 2B" EXACT [] synonym: "goiter-deafness syndrome" EXACT [] synonym: "TDH2B" EXACT OMO:0003012 [] synonym: "thyroid dyshormonogenesis 2B" EXACT [] xref: GARD:4271 xref: ICD10CM:E07.1 xref: MESH:C536648 xref: MIM:274600 xref: NCI:C121745 xref: ORDO:705 xref: SNOMEDCT_US_2023_03_01:70348004 xref: UMLS_CUI:C0271829 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060745 name: Doyne honeycomb retinal dystrophy def: "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10369267, url:https\://www.ncbi.nlm.nih.gov/pubmed/11384588] subset: DO_rare_slim synonym: "DHRD" EXACT OMO:0003012 [] synonym: "Doyne honeycomb degeneration of retina" EXACT [] xref: GARD:1912 xref: ICD10CM:H35.5 xref: MESH:C535602 xref: MIM:126600 xref: ORDO:75376 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2569 ! retinal drusen [Term] id: DOID:0060746 name: basal laminar drusen def: "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18252232, url:https\://www.ncbi.nlm.nih.gov/pubmed/5448127] subset: DO_rare_slim synonym: "cuticular drusen" EXACT [] synonym: "drusen of bruch membrane" EXACT [] synonym: "early adult-onset grouped drusen" EXACT [] xref: ICD10CM:H35.5 xref: MESH:C563034 xref: MIM:126700 xref: ORDO:75376 is_a: DOID:0050177 ! monogenic disease is_a: DOID:2569 ! retinal drusen [Term] id: DOID:0060747 name: Duane-radial ray syndrome def: "A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12393809, url:https\://www.ncbi.nlm.nih.gov/pubmed/12843316, url:https\://www.ncbi.nlm.nih.gov/pubmed/8882787] subset: DO_rare_slim synonym: "acrorenocular syndrome" EXACT [] synonym: "DR syndrome" EXACT [] synonym: "Duane anomaly with radial ray abnormalities and deafness" EXACT [] synonym: "Okihiro syndrome" EXACT [] xref: GARD:9182 xref: ICD10CM:Q87.8 xref: MIM:607323 xref: ORDO:93293 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060748 name: familial temporal lobe epilepsy 1 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10851389, url:https\://www.ncbi.nlm.nih.gov/pubmed/12205652, url:https\://www.ncbi.nlm.nih.gov/pubmed/15079010] subset: DO_rare_slim synonym: "ETL1" EXACT OMO:0003012 [] synonym: "partial epilepsy with auditory features" EXACT [] xref: MIM:600512 xref: ORDO:101046 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3328 ! temporal lobe epilepsy [Term] id: DOID:0060749 name: familial temporal lobe epilepsy 6 def: "A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24021842] subset: DO_rare_slim synonym: "ETL6" EXACT OMO:0003012 [] xref: MIM:615697 xref: ORDO:163717 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3328 ! temporal lobe epilepsy [Term] id: DOID:0060750 name: familial temporal lobe epilepsy 3 def: "A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17377072] subset: DO_rare_slim synonym: "familial mesial temporal lobe epilepsy" EXACT [] synonym: "FMTLE" EXACT OMO:0003012 [] xref: MIM:611630 xref: ORDO:163717 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3328 ! temporal lobe epilepsy [Term] id: DOID:0060751 name: familial temporal lobe epilepsy 7 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26046367] subset: DO_rare_slim synonym: "ETL7" EXACT OMO:0003012 [] xref: MIM:616436 xref: ORDO:101046 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3328 ! temporal lobe epilepsy [Term] id: DOID:0060752 name: familial temporal lobe epilepsy 5 def: "A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21922598] subset: DO_rare_slim synonym: "ETL5" EXACT OMO:0003012 [] xref: MIM:614417 xref: ORDO:163717 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3328 ! temporal lobe epilepsy [Term] id: DOID:0060753 name: familial temporal lobe epilepsy 4 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17460155, url:https\://www.ncbi.nlm.nih.gov/pubmed/18332351] subset: DO_rare_slim synonym: "EPOLM" EXACT OMO:0003012 [] synonym: "ETL4" EXACT OMO:0003012 [] synonym: "occipitotemporal lobe epilepsy and migraine with aura" EXACT [] xref: MIM:611631 xref: ORDO:98819 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3328 ! temporal lobe epilepsy [Term] id: DOID:0060754 name: familial temporal lobe epilepsy 8 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25691535] subset: DO_rare_slim synonym: "ETL8" EXACT OMO:0003012 [] xref: MIM:616461 xref: ORDO:101046 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3328 ! temporal lobe epilepsy [Term] id: DOID:0060755 name: familial temporal lobe epilepsy 2 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12011300, url:https\://www.ncbi.nlm.nih.gov/pubmed/15342703] subset: DO_rare_slim synonym: "ETL2" EXACT OMO:0003012 [] xref: MIM:608096 xref: ORDO:98819 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3328 ! temporal lobe epilepsy [Term] id: DOID:0060756 name: sclerosteosis 1 def: "A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11179006] subset: DO_rare_slim synonym: "SOST1" EXACT OMO:0003012 [] xref: ICD10CM:M85.2 xref: MIM:269500 xref: ORDO:3152 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060251 ! sclerosteosis [Term] id: DOID:0060757 name: sclerosteosis 2 def: "A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21471202] subset: DO_rare_slim synonym: "SOST2" EXACT OMO:0003012 [] xref: ICD10CM:M85.2 xref: MIM:614305 xref: ORDO:3152 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060251 ! sclerosteosis [Term] id: DOID:0060758 name: immunodeficiency with hyper-IgM type 2 def: "A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11007475] subset: DO_rare_slim subset: NCIthesaurus synonym: "activation-induced cytidine deaminase deficiency" EXACT [] synonym: "AID deficiency" EXACT [] synonym: "HIGM2" EXACT OMO:0003012 [] synonym: "hyper-IgM syndrome type 2" EXACT [] xref: GARD:10578 xref: MIM:605258 xref: NCI:C129074 xref: ORDO:101089 xref: UMLS_CUI:C1720956 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080544 ! hyper IgM syndrome property_value: broadMatch "ORDO:183666" xsd:string property_value: exactMatch "GARD:10578" xsd:string property_value: exactMatch "MIM:605258" xsd:string property_value: exactMatch "NCI:C129074" xsd:string property_value: exactMatch "ORDO:101089" xsd:string property_value: exactMatch "UMLS_CUI:C1720956" xsd:string [Term] id: DOID:0060759 name: immunodeficiency with hyper IgM type 5 def: "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12958596] subset: DO_rare_slim synonym: "HIGM5" EXACT OMO:0003012 [] synonym: "hyper-IgM syndrome 5" EXACT [] synonym: "hyper-IgM syndrome due to UNG deficiency" EXACT [] synonym: "hyper-IgM syndrome due to uracil N-glycosylase" EXACT [] xref: GARD:10581 xref: MIM:608106 xref: ORDO:101092 xref: UMLS_CUI:C1720958 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080544 ! hyper IgM syndrome property_value: broadMatch "ORDO:183666" xsd:string property_value: exactMatch "GARD:10581" xsd:string property_value: exactMatch "MIM:608106" xsd:string property_value: exactMatch "ORDO:101092" xsd:string property_value: exactMatch "UMLS_CUI:C1720958" xsd:string [Term] id: DOID:0060760 name: immunodeficiency with hyper-IgM type 4 def: "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12840068] subset: DO_rare_slim subset: NCIthesaurus synonym: "HIGM4" EXACT OMO:0003012 [] synonym: "hyper-IgM syndrome type 4" EXACT [] xref: GARD:10580 xref: MESH:C564277 xref: MIM:608184 xref: NCI:C564277 xref: ORDO:101091 xref: UMLS_CUI:C1842413 is_a: DOID:0080544 ! hyper IgM syndrome property_value: broadMatch "ORDO:183666" xsd:string property_value: exactMatch "GARD:10580" xsd:string property_value: exactMatch "MESH:C564277" xsd:string property_value: exactMatch "MIM:608184" xsd:string property_value: exactMatch "NCI:C564277" xsd:string property_value: exactMatch "ORDO:101091" xsd:string property_value: exactMatch "UMLS_CUI:C1842413" xsd:string [Term] id: DOID:0060761 name: familial chronic myelocytic leukemia-like syndrome def: "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8086739] synonym: "familial CML-like syndrome" EXACT [] xref: MIM:600080 is_a: DOID:8552 ! chronic myeloid leukemia [Term] id: DOID:0060762 name: restrictive dermopathy def: "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15317753, url:https\://www.ncbi.nlm.nih.gov/pubmed/20101687] subset: DO_rare_slim synonym: "hyperkeratosis-contracture syndrome" EXACT [] synonym: "Infantile restrictive dermopathy" EXACT [] synonym: "lethal restrictive dermopathy" EXACT [] synonym: "Lethal tight skin contracture syndrome" EXACT [] synonym: "tight skin contracture syndrome" EXACT [] xref: GARD:1516 xref: MESH:C536920 xref: MIM:PS275210 xref: ORDO:1662 xref: SNOMEDCT_US_2023_03_01:400128006 xref: UMLS_CUI:C0406585 is_a: DOID:37 ! skin disease property_value: exactMatch "GARD:1516" xsd:string property_value: exactMatch "MESH:C536920" xsd:string property_value: exactMatch "MIM:PS275210" xsd:string property_value: exactMatch "ORDO:1662" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_02_28:400128006" xsd:string property_value: exactMatch "UMLS_CUI:C0406585" xsd:string [Term] id: DOID:0060763 name: X-linked juvenile retinoschisis 1 def: "A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17172462, url:https\://www.ncbi.nlm.nih.gov/pubmed/9326935] subset: DO_rare_slim synonym: "X-linked juvenile retinoschisis" EXACT [] synonym: "X-linked retinoschisis" EXACT [] synonym: "XLRS" EXACT OMO:0003012 [] xref: ICD10CM:Q14.1 xref: MIM:312700 xref: ORDO:792 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:8465 ! retinoschisis [Term] id: DOID:0060764 name: autosomal recessive Robinow syndrome def: "A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10932186, url:https\://www.ncbi.nlm.nih.gov/pubmed/10932187] subset: DO_rare_slim synonym: "costovertebral segmentation defect-mesomelia syndrome" EXACT [] synonym: "COVESDEM syndrome" EXACT [] synonym: "RRS" EXACT OMO:0003012 [] xref: MIM:268310 xref: ORDO:1507 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060254 ! Robinow syndrome [Term] id: DOID:0060765 name: autosomal dominant Robinow syndrome 2 def: "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25817014, url:https\://www.ncbi.nlm.nih.gov/pubmed/26924530] subset: DO_rare_slim synonym: "DRS2" EXACT OMO:0003012 [] xref: MIM:616331 xref: ORDO:3107 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060254 ! Robinow syndrome [Term] id: DOID:0060766 name: autosomal dominant Robinow syndrome 1 def: "A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19918918, url:https\://www.ncbi.nlm.nih.gov/pubmed/24716670] subset: DO_rare_slim synonym: "DRS1" EXACT OMO:0003012 [] xref: MIM:180700 xref: ORDO:3107 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060254 ! Robinow syndrome [Term] id: DOID:0060767 name: autosomal dominant Robinow syndrome 3 def: "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26924530] subset: DO_rare_slim synonym: "DRS3" EXACT OMO:0003012 [] xref: MIM:616894 xref: ORDO:3107 xref: ORDO:97360 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060254 ! Robinow syndrome [Term] id: DOID:0060768 name: Smith-Magenis syndrome def: "A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1310/, url:https\://www.ncbi.nlm.nih.gov/pubmed/16845274, url:https\://www.ncbi.nlm.nih.gov/pubmed/21844811, url:https\://www.ncbi.nlm.nih.gov/pubmed/6745947] subset: DO_rare_slim synonym: "17p11.2 microdeletion syndrome" EXACT [] synonym: "chromosome 17p11.2 deletion syndrome" EXACT [] xref: GARD:8197 xref: ICD10CM:Q93.5 xref: MESH:D058496 xref: MIM:182290 xref: ORDO:819 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0060769 name: T-cell immunodeficiency, congenital alopecia, and nail dystrophy def: "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12." [url:https\://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy, url:https\://www.ncbi.nlm.nih.gov/pubmed/10206641, url:https\://www.ncbi.nlm.nih.gov/pubmed/8911612] subset: DO_rare_slim synonym: "alymphoid cystic thymic dysgenesis" EXACT [] synonym: "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome" EXACT [] synonym: "winged helix deficiency" EXACT [] xref: ICD10CM:D82.8 xref: MESH:C536781 xref: MIM:601705 xref: ORDO:169095 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060770 name: dextro-looped transposition of the great arteries alt_id: DOID:0060771 def: "A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11799476] subset: DO_rare_slim synonym: "congenitally uncorrected transposition of the great arteries" EXACT [] synonym: "congenitally uncorrected transposition of the great vessels" EXACT [] synonym: "D-TGA" EXACT OMO:0003012 [] synonym: "DTGA1" EXACT OMO:0003012 [] synonym: "isolated ventriculoarterial discordance" EXACT [] synonym: "ventriculoarterial discordance with atrioventricular concordance" EXACT [] xref: ICD10CM:Q20.3 xref: MIM:608808 xref: ORDO:860 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:0060771 name: obsolete dextro-looped transposition of the great arteries 1 def: "A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous missense mutation in the MED13L gene on chromosome 12q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14638541] is_obsolete: true [Term] id: DOID:0060772 name: multiple types of congenital heart defects 6 def: "A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that\nhas_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17924340] synonym: "dextro-looped transposition of the great arteries 3" EXACT [] synonym: "DTGA3" EXACT OMO:0003012 [] xref: ICD10CM:Q20.3 xref: MIM:613854 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:0060773 name: cleft lip-palate-ectodermal dysplasia syndrome def: "A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3035184, url:https\://www.ncbi.nlm.nih.gov/pubmed/9758630] subset: DO_rare_slim synonym: "cleft lip/palate-syndactyly-pili torti syndrome" EXACT [] synonym: "CLPED1" EXACT OMO:0003012 [] synonym: "Margarita type of ectodermal dysplasia" EXACT [] synonym: "syndactyly-ectodermal dysplasia-cleft/lip palate" EXACT [] synonym: "Zlotogora-Zilberman-Tenenbaum syndrome" EXACT [] xref: GARD:375 xref: MIM:225060 xref: ORDO:3253 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060774 name: congenital diarrhea def: "A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22605972, url:https\://www.ncbi.nlm.nih.gov/pubmed/30894704] xref: MIM:PS214700 is_a: DOID:0080015 ! physical disorder is_a: DOID:13250 ! diarrhea [Term] id: DOID:0060775 name: microvillus inclusion disease def: "A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18724368] subset: DO_rare_slim synonym: "congenital familial protracted diarrhea with enterocyte brush-border abnormalities" EXACT [] synonym: "congenital microvillus atrophy" EXACT [] synonym: "Davidson disease" EXACT [] synonym: "diarrhea 2 with microvillus atrophy" EXACT [] synonym: "intractable diarrhea of infancy" EXACT [] synonym: "MVD" EXACT OMO:0003012 [] xref: GARD:7039 xref: ICD10CM:P78.3 xref: MESH:C537470 xref: MIM:251850 xref: ORDO:2290 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea [Term] id: DOID:0060776 name: congenital diarrhea 5 with tufting enteropathy def: "A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18572020, url:https\://www.ncbi.nlm.nih.gov/pubmed/23462293] subset: DO_rare_slim synonym: "congenital diarrhoea 5 with tufting enteropathy" EXACT [] synonym: "congenital familial intractable diarrhea with epithelial or epithelium abnormalities" EXACT [] synonym: "congenital familial intractable diarrhoea with epithelial or epithelium abnormalities" EXACT [] synonym: "congenital tufting enteropathy" EXACT [] synonym: "DIAR5" EXACT OMO:0003012 [] synonym: "tufting enteropathy" EXACT [] xref: ICD10CM:P78.3 xref: MIM:613217 xref: ORDO:92050 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea [Term] id: DOID:0060777 name: congenital secretory sodium diarrhea 8 def: "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26358773] subset: DO_rare_slim synonym: "DIAR8" EXACT OMO:0003012 [] xref: ICD10CM:P78.3 xref: MIM:616868 xref: ORDO:103908 is_a: DOID:0050129 ! secretory diarrhea is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder [Term] id: DOID:0060778 name: congenital diarrhea 7 with exudative enteropathy def: "A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23114594] subset: DO_rare_slim synonym: "congenital chronic diarrhea with exudative enteropathy" EXACT [] synonym: "congenital chronic diarrhea with protein-losing enteropathy" EXACT [] synonym: "congenital chronic diarrhoea with exudative enteropathy" EXACT [] synonym: "congenital chronic diarrhoea with protein-losing enteropathy" EXACT [] synonym: "congenital diarrhoea 7 with exudative enteropathy" EXACT [] xref: ICD10CM:P78.3 xref: MIM:615863 xref: ORDO:329242 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea [Term] id: DOID:0060779 name: congenital malabsorptive diarrhea 4 def: "A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16855267] subset: DO_rare_slim synonym: "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" EXACT [] synonym: "congenital malabsorptive diarrhoea 4" EXACT [] synonym: "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells" EXACT [] synonym: "enteric anendocrinosis" EXACT [] xref: ICD10CM:P78.3 xref: MIM:610370 xref: ORDO:83620 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea [Term] id: DOID:0060780 name: congenital diarrhea 6 def: "A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22436048] subset: DO_rare_slim synonym: "chronic diarrhea due to guanylate cyclase 2C overactivity" EXACT [] synonym: "chronic diarrhoea due to guanylate cyclase 2C overactivity" EXACT [] synonym: "congenital diarrhoea 6" EXACT [] xref: ICD10CM:P78.3 xref: MIM:614616 xref: ORDO:314373 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060774 ! congenital diarrhea [Term] id: DOID:0060781 name: congenital secretory sodium diarrhea 3 def: "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19185281] subset: DO_rare_slim synonym: "congenital secretory sodium diarrhea 3 syndromic" EXACT [] synonym: "congenital secretory sodium diarrhea 3 with or without other congenital anomalies" EXACT [] synonym: "congenital secretory sodium diarrhoea 3" EXACT [] synonym: "congenital secretory sodium diarrhoea 3 syndromic" EXACT [] synonym: "congenital secretory sodium diarrhoea 3 with or without other congenital anomalies" EXACT [] xref: ICD10CM:P78.3 xref: MIM:270420 xref: ORDO:103908 is_a: DOID:0050129 ! secretory diarrhea is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder [Term] id: DOID:0060782 name: EEC syndrome def: "A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate)." [url:https\://rarediseases.info.nih.gov/diseases/2076/eec-syndrome] subset: DO_rare_slim subset: NCIthesaurus synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome" EXACT [] synonym: "ectrodactyly-ectodermal dysplasia-clefting syndrome" EXACT [] synonym: "Rudiger syndrome 1" EXACT [] synonym: "Walker-Clodius syndrome" EXACT [] xref: MESH:C536189 xref: NCI:C148261 xref: ORDO:1896 xref: SNOMEDCT_US_2023_03_01:39788007 xref: UMLS_CUI:C0406704 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:C536189" xsd:string [Term] id: DOID:0060783 name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 def: "An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10535733, url:https\://www.ncbi.nlm.nih.gov/pubmed/8737655] subset: DO_rare_slim subset: NCIthesaurus synonym: "EEC syndrome 3" EXACT [] synonym: "EEC3" EXACT OMO:0003012 [] xref: MESH:C536189 xref: MIM:604292 xref: NCI:C148261 xref: ORDO:1896 xref: SNOMEDCT_US_2023_03_01:39788007 xref: UMLS_CUI:C0406704 is_a: DOID:0060782 ! EEC syndrome [Term] id: DOID:0060784 name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 def: "An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1424230, url:https\://www.ncbi.nlm.nih.gov/pubmed/5454938] subset: DO_rare_slim subset: NCIthesaurus synonym: "EEC syndrome 1" EXACT [] synonym: "EEC1" EXACT OMO:0003012 [] xref: MESH:C536189 xref: MIM:129900 xref: NCI:C148261 xref: ORDO:1896 xref: SNOMEDCT_US_2023_03_01:39788007 xref: UMLS_CUI:C0406704 is_a: DOID:0060782 ! EEC syndrome [Term] id: DOID:0060785 name: adult-onset autosomal dominant demyelinating leukodystrophy def: "A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16951681, url:https\://www.ncbi.nlm.nih.gov/pubmed/19151023] subset: DO_rare_slim synonym: "ADLD" EXACT OMO:0003012 [] synonym: "adult-onset autosomal dominant leukodystrophy" EXACT [] synonym: "autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease" EXACT [] xref: GARD:10587 xref: MIM:169500 xref: ORDO:99027 xref: SNOMEDCT_US_2023_03_01:448054001 xref: UMLS_CUI:C3164344 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10579 ! leukodystrophy [Term] id: DOID:0060786 name: hypomyelinating leukodystrophy def: "A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging." [url:https\://pubmed.ncbi.nlm.nih.gov/24916848/, url:https\://pubmed.ncbi.nlm.nih.gov/25649058/, url:https\://pubmed.ncbi.nlm.nih.gov/27234264/] synonym: "HLD" EXACT OMO:0003012 [] xref: MIM:PS312080 is_a: DOID:10579 ! leukodystrophy [Term] id: DOID:0060787 name: hypomyelinating leukodystrophy 2 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15192806, url:https\://www.ncbi.nlm.nih.gov/pubmed/18094336] subset: DO_rare_slim synonym: "HLD2" EXACT OMO:0003012 [] synonym: "Pelizaeus-Merzbacher-like disease 1" EXACT [] synonym: "Pelizaeus-Merzbacher-like disease due to GJC2 mutation" EXACT [] synonym: "PMLD1" EXACT OMO:0003012 [] xref: ICD10CM:E75.2 xref: MIM:608804 xref: ORDO:280282 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060788 name: hypomyelinating leukodystrophy 10 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25865492, url:https\://www.ncbi.nlm.nih.gov/pubmed/27130255] synonym: "HLD10" EXACT OMO:0003012 [] xref: MIM:616420 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060789 name: hypomyelinating leukodystrophy 4 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18571143] subset: DO_rare_slim synonym: "HLD4" EXACT OMO:0003012 [] synonym: "MitCHAP60 disease" EXACT [] synonym: "mitochondrial HSP60 chaperonopathy" EXACT [] synonym: "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" EXACT [] xref: ICD10CM:E75.2 xref: MIM:612233 xref: ORDO:280288 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060790 name: hypomyelinating leukodystrophy 3 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21092922, url:https\://www.ncbi.nlm.nih.gov/pubmed/24958424] subset: DO_rare_slim synonym: "HLD3" EXACT OMO:0003012 [] synonym: "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation" EXACT [] xref: ICD10CM:E75.2 xref: MIM:260600 xref: ORDO:280293 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060791 name: hypomyelinating leukodystrophy 9 def: "A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24777941] subset: DO_rare_slim synonym: "HLD9" EXACT OMO:0003012 [] synonym: "RARS-related autosomal recessive hypomyelinating leukodystrophy" EXACT [] xref: ICD10CM:E75.2 xref: MIM:616140 xref: ORDO:438114 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060792 name: hypomyelinating leukodystrophy 11 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26151409] synonym: "HLD11" EXACT OMO:0003012 [] xref: ICD10CM:G11.1 xref: MIM:616494 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060793 name: hypomyelinating leukodystrophy 5 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16951682, url:https\://www.ncbi.nlm.nih.gov/pubmed/17683097] subset: DO_rare_slim synonym: "HLD5" EXACT OMO:0003012 [] synonym: "hypomyelination-congenital cataract syndrome" EXACT [] xref: ICD10CM:G37.8 xref: MIM:610532 xref: ORDO:85163 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060794 name: hypomyelinating leukodystrophy 7 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12605447, url:https\://www.ncbi.nlm.nih.gov/pubmed/21855841] subset: DO_rare_slim synonym: "ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy" EXACT [] synonym: "dentoleukoencephalopathy" EXACT [] synonym: "HLD7" EXACT OMO:0003012 [] synonym: "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome" EXACT [] synonym: "leukodystrophy with oligodontia" EXACT [] synonym: "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" EXACT [] synonym: "TACH syndrome" EXACT [] synonym: "tremor-ataxia-central hypomyelination syndrome" EXACT [] xref: ICD10CM:G11.1 xref: MIM:607694 xref: ORDO:137639 xref: ORDO:447893 xref: ORDO:447896 xref: ORDO:77295 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060795 name: hypomyelinating leukodystrophy 13 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26545878] synonym: "HLD13" EXACT OMO:0003012 [] xref: MIM:616881 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060796 name: hypomyelinating leukodystrophy 12 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26307567, url:https\://www.ncbi.nlm.nih.gov/pubmed/27120463] synonym: "HLD12" EXACT OMO:0003012 [] xref: MIM:616683 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060797 name: hypomyelinating leukodystrophy 8 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22036171, url:https\://www.ncbi.nlm.nih.gov/pubmed/22036172] synonym: "HLD8" EXACT OMO:0003012 [] xref: ICD10CM:G11.1 xref: MIM:614381 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060798 name: hypomyelinating leukodystrophy 6 def: "A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23582646] subset: DO_rare_slim synonym: "H-ABC" EXACT OMO:0003012 [] synonym: "HABC" EXACT OMO:0003012 [] synonym: "HLD6" EXACT OMO:0003012 [] synonym: "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum" EXACT [] synonym: "hypomyelination with atrophy of basal ganglia and cerebellum" EXACT [] xref: ICD10CM:E75.2 xref: MIM:612438 xref: ORDO:139441 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060799 name: syndromic X-linked intellectual disability Lubs type alt_id: DOID:0080713 def: "A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28." [url:https\://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15689435, url:https\://www.ncbi.nlm.nih.gov/pubmed/20425814] subset: DO_rare_slim subset: NCIthesaurus synonym: "Lubs X-linked mental retardation syndrome" EXACT [] synonym: "MECP2 duplication syndrome" EXACT [] synonym: "mental retardation, X-linked, syndromic, Lubs type" EXACT [] synonym: "mental retardation, X-linked, with recurrent respiratory infections" EXACT [] synonym: "MRXSL" EXACT OMO:0003012 [] synonym: "X-linked intellectual disability-hypotonia-recurrent Infections syndrome" EXACT [] xref: GARD:9781 xref: MESH:C537723 xref: MIM:300260 xref: NCI:C126747 xref: ORDO:85281 xref: SNOMEDCT_US_2023_03_01:702816000 xref: UMLS_CUI:C1846058 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0060429 ! chromosomal duplication syndrome [Term] id: DOID:0060800 name: syndromic X-linked intellectual disability 5 def: "A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19377476, url:https\://www.ncbi.nlm.nih.gov/pubmed/23756445] subset: DO_rare_slim subset: NCIthesaurus synonym: "Fried syndrome" EXACT [] synonym: "Mental retardation, X-linked syndromic 5" EXACT [] synonym: "MRX59" EXACT OMO:0003012 [] synonym: "MRXS21" EXACT OMO:0003012 [] synonym: "Pettigrew syndrome" EXACT [] synonym: "syndromic X-linked mental retardation 21" EXACT [] synonym: "syndromic X-linked mental retardation Fried type" EXACT [] synonym: "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome" EXACT [] synonym: "X-linked mental retardation 59" EXACT [] synonym: "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT [] xref: MESH:C535773 xref: MIM:304340 xref: NCI:C124839 xref: ORDO:1568 xref: ORDO:85335 xref: SNOMEDCT_US_2023_03_01:719139003 xref: UMLS_CUI:C0796254 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060801 name: MEHMO syndrome def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12032729, url:https\://www.ncbi.nlm.nih.gov/pubmed/9781023] subset: DO_rare_slim synonym: "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" EXACT [] synonym: "MRXS20" EXACT OMO:0003012 [] synonym: "MRXS25" EXACT OMO:0003012 [] synonym: "syndromic X-linked mental retardation 20" EXACT [] synonym: "syndromic X-linked mental retardation 25" EXACT [] synonym: "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome" EXACT [] xref: MESH:C537451 xref: MIM:300148 xref: ORDO:85282 xref: SNOMEDCT_US_2023_03_01:722037004 xref: UMLS_CUI:C1846278 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060802 name: syndromic X-linked intellectual disability Snyder type def: "A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14508504, url:https\://www.ncbi.nlm.nih.gov/pubmed/23696453] subset: DO_rare_slim synonym: "mental retardation, X-linked, Snyder-Robinson type" EXACT [] synonym: "Snyder-Robinson mental retardation syndrome" EXACT [] synonym: "Snyder-Robinson syndrome" EXACT [] synonym: "spermine synthase deficiency" EXACT [] synonym: "SRS" EXACT OMO:0003012 [] xref: GARD:5615 xref: ICD10CM:Q87.8 xref: MIM:309583 xref: ORDO:3063 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060803 name: syndromic X-linked intellectual disability 17 def: "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21744492] subset: DO_rare_slim synonym: "intellectual disability-alacrima-achalasia syndrome" EXACT [] synonym: "mental retardation, X-linked, syndromic 17" EXACT [] synonym: "X-linked mental retardation with alacrima and achalasia" EXACT [] xref: MIM:300858 xref: ORDO:289483 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060804 name: syndromic X-linked intellectual disability 12 def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1357179] subset: DO_rare_slim synonym: "mental retardation, X-linked, syndromic 12" EXACT [] synonym: "X-linked intellectual disability, Wilson type" EXACT [] xref: ICD10CM:Q87.8 xref: MIM:309545 xref: ORDO:85290 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060805 name: Prieto syndrome def: "A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1673297, url:https\://www.ncbi.nlm.nih.gov/pubmed/3121220] subset: DO_rare_slim synonym: "Prieto-Badia-Mulas syndrome" EXACT [] synonym: "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome" EXACT [] xref: MIM:309610 xref: ORDO:2958 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060806 name: syndromic X-linked intellectual disability Hedera type def: "A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11782983, url:https\://www.ncbi.nlm.nih.gov/pubmed/15746149] subset: DO_rare_slim synonym: "mental retardation, X-linked, syndromic, Hedera type" EXACT [] synonym: "MRXE" EXACT OMO:0003012 [] synonym: "MRXSH" EXACT OMO:0003012 [] synonym: "X-linked mental retardation with epilepsy" EXACT [] xref: MIM:300423 xref: ORDO:93952 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060807 name: syndromic X-linked intellectual disability Najm type def: "A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19165920, url:https\://www.ncbi.nlm.nih.gov/pubmed/21954287] subset: DO_rare_slim synonym: "mental retardation and microcephaly with pontine and cerebellar hypoplasia" EXACT [] synonym: "MICPCH" EXACT OMO:0003012 [] synonym: "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome" EXACT [] xref: GARD:12669 xref: ICD10CM:Q04.3 xref: MIM:300749 xref: ORDO:163937 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060808 name: syndromic X-linked intellectual disability 7 def: "A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10573017] subset: DO_rare_slim synonym: "mental retardation, X-linked syndromic 7" EXACT [] synonym: "MRXS7" EXACT OMO:0003012 [] synonym: "X-linked intellectual disability, Ahmad type" EXACT [] xref: GARD:9156 xref: MESH:C537449 xref: MIM:300218 xref: ORDO:85274 xref: SNOMEDCT_US_2023_03_01:719160009 xref: UMLS_CUI:C1846170 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060809 name: syndromic X-linked intellectual disability Claes-Jensen type def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10982473, url:https\://www.ncbi.nlm.nih.gov/pubmed/15586325] subset: DO_rare_slim synonym: "mental retardation, X-linked, syndromic, Claes-Jensen type" EXACT [] synonym: "MRXSCJ" EXACT OMO:0003012 [] synonym: "MRXSJ" EXACT OMO:0003012 [] synonym: "syndromic X-linked intellectual disability due to JARID1C mutation" EXACT [] synonym: "syndromic X-linked mental retardation JARID1C-related" EXACT [] xref: ICD10CM:Q87.8 xref: MIM:300534 xref: ORDO:85279 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060810 name: syndromic X-linked intellectual disability type 10 def: "A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10521307, url:https\://www.ncbi.nlm.nih.gov/pubmed/17236142] subset: DO_rare_slim synonym: "HSD10 deficiency, atypical type" EXACT [] synonym: "HSD10 disease, atypical type" EXACT [] synonym: "mental retardation, X-linked syndromic 10" EXACT [] synonym: "MRXS10" EXACT OMO:0003012 [] synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" EXACT [] xref: ICD10CM:G25.5 xref: MIM:300438 xref: ORDO:85295 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060811 name: syndromic X-linked intellectual disability Turner type alt_id: DOID:0060829 def: "A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18252223, url:https\://www.ncbi.nlm.nih.gov/pubmed/7943042] subset: DO_rare_slim synonym: "Brooks-Wisniewski-Brown syndrome" EXACT [] synonym: "mental retardation and macrocephaly syndrome" EXACT [] synonym: "mental retardation, X-linked syndromic, Turner type" EXACT [] synonym: "MRXST" EXACT OMO:0003012 [] synonym: "X-linked intellectual disability, Brooks type" EXACT [] xref: ICD10CM:Q87.8 xref: MIM:309590 xref: ORDO:3056 xref: ORDO:85328 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060812 name: syndromic X-linked intellectual disability Siderius type def: "A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10398231, url:https\://www.ncbi.nlm.nih.gov/pubmed/16199551] subset: DO_rare_slim synonym: "mental retardation syndrome, X-linked, Siderius type" EXACT [] synonym: "MRXSSD" EXACT OMO:0003012 [] synonym: "Siderius X-linked mental retardation syndrome" EXACT [] synonym: "Siderius-Hamel syndrome" EXACT [] xref: MESH:C537333 xref: MIM:300263 xref: ORDO:85287 xref: UMLS_CUI:C1846055 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060813 name: syndromic X-linked intellectual disability Shrimpton type def: "A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10331611, url:https\://www.ncbi.nlm.nih.gov/pubmed/10797443] subset: DO_rare_slim synonym: "mental retardation, X-linked, syndromic 9" EXACT [] synonym: "MRXS9" EXACT OMO:0003012 [] xref: ICD10CM:Q87.8 xref: MIM:300709 xref: ORDO:85324 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060814 name: Wilson-Turner syndrome def: "A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1746601, url:https\://www.ncbi.nlm.nih.gov/pubmed/25644381] subset: DO_rare_slim synonym: "mental retardation, X-linked, syndromic 6" EXACT [] synonym: "mental retardation, X-linked, with gynecomastia and obesity" EXACT [] synonym: "MRXS6" EXACT OMO:0003012 [] synonym: "WTS" EXACT OMO:0003012 [] synonym: "X-linked intellectual disability-gynecomastia-obesity syndrome" EXACT [] xref: GARD:5579 xref: MIM:309585 xref: ORDO:3459 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060815 name: Miles-Carpenter syndrome def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2018061] subset: DO_rare_slim synonym: "MCS" EXACT OMO:0003012 [] synonym: "mental retardation, X-linked, syndromic 4" EXACT [] synonym: "mental retardation, X-linked, with congenital contractures and low fingertip arches" EXACT [] synonym: "MRXS4" EXACT OMO:0003012 [] synonym: "X-linked intellectual disability, Miles-Carpenter type" EXACT [] xref: MIM:314580 xref: ORDO:85283 xref: UMLS_CUI:C1839735 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060816 name: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome def: "A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14556245] subset: DO_rare_slim synonym: "corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia" EXACT [] synonym: "Graham-Cox syndrome" EXACT [] synonym: "mental retardation, X-linked, syndromic 28" EXACT [] synonym: "MRXS28" EXACT OMO:0003012 [] xref: ICD10CM:Q87.8 xref: MIM:300472 xref: ORDO:52055 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060817 name: syndromic X-linked intellectual disability 34 def: "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26571461] subset: DO_rare_slim synonym: "macrocephaly-intellectual disability-left ventricular non compaction syndrome" EXACT [] synonym: "mental retardation, X-linked, syndromic 34" EXACT [] synonym: "MRXS34" EXACT OMO:0003012 [] synonym: "MRXSML" EXACT OMO:0003012 [] synonym: "syndromic X-linked mental retardation Mircsof-Langouet type" EXACT [] xref: MIM:300967 xref: ORDO:466791 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060818 name: syndromic X-linked intellectual disability Abidi type def: "A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10398233] subset: DO_rare_slim synonym: "mental retardation, X-linked syndromic, Abidi type" EXACT [] synonym: "MRXSAB" EXACT OMO:0003012 [] synonym: "syndromic X-linked mental retardation Abidi type" EXACT [] xref: MESH:C535556 xref: MIM:300262 xref: ORDO:85273 xref: UMLS_CUI:C1846056 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060819 name: syndromic X-linked intellectual disability Chudley-Schwartz type def: "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10398239] synonym: "mental retardation, X-linked, syndromic, Chudley-Schwartz type" EXACT [] synonym: "MRXSCS" EXACT OMO:0003012 [] synonym: "X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance" EXACT [] xref: MIM:300861 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060820 name: syndromic X-linked intellectual disability Nascimento type def: "A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16909393, url:https\://www.ncbi.nlm.nih.gov/pubmed/20412111] subset: DO_rare_slim synonym: "mental retardation, X-linked syndromic, Nascimento-type" EXACT [] synonym: "X-linked intellectual disability-nail dystrophy-seizures syndrome" EXACT [] xref: ICD10CM:Q87.8 xref: MIM:300860 xref: ORDO:163956 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060821 name: syndromic X-linked intellectual disability 14 def: "A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17704778, url:https\://www.ncbi.nlm.nih.gov/pubmed/22957832] subset: DO_rare_slim synonym: "mental retardation, X-linked, syndromic 14" EXACT [] xref: MESH:C537724 xref: MIM:300676 xref: ORDO:323 xref: ORDO:776 xref: SNOMEDCT_US_2023_03_01:422437002 xref: UMLS_CUI:C0796022 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060822 name: syndromic X-linked intellectual disability Cabezas type def: "A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10978355, url:https\://www.ncbi.nlm.nih.gov/pubmed/17236139] subset: DO_rare_slim synonym: "Cabezas syndrome; syndromic X-linked mental retardation 15" EXACT [] synonym: "mental retardation, X-linked, syndromic 15" EXACT [] synonym: "mental retardation, X-linked, syndromic 15 (Cabezas type)" EXACT [] synonym: "MRSS" EXACT OMO:0003012 [] synonym: "MRXS15" EXACT OMO:0003012 [] synonym: "MRXSC" EXACT OMO:0003012 [] synonym: "X-linked mental retardation with short stature" EXACT [] synonym: "X-linked mental retardation with short stature, hypogonadism, and abnormal gait" EXACT [] xref: GARD:13244 xref: ICD10CM:Q87.8 xref: MIM:300354 xref: ORDO:85293 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060823 name: syndromic X-linked intellectual disability 94 def: "A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17989220, url:https\://www.ncbi.nlm.nih.gov/pubmed/19449417, url:https\://www.ncbi.nlm.nih.gov/pubmed/24721225] subset: DO_rare_slim synonym: "mental retardation, X-linked 94" EXACT [] synonym: "MRX94" EXACT OMO:0003012 [] synonym: "MRXS29" EXACT OMO:0003012 [] synonym: "syndromic X-linked intellectual disability due to GRIA3 anomalies" EXACT [] synonym: "syndromic X-linked mental retardation 29" EXACT [] synonym: "syndromic X-linked mental retardation Wu type" EXACT [] xref: ICD10CM:F72 xref: MIM:300699 xref: ORDO:364028 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060824 name: syndromic X-linked intellectual disability Raymond type def: "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17436253, url:https\://www.ncbi.nlm.nih.gov/pubmed/19377476] subset: DO_rare_slim synonym: "mental retardation, X-linked syndromic, Raymond type" EXACT [] synonym: "MRXSR" EXACT OMO:0003012 [] synonym: "X-linked syndromic intellectual developmental disorder Raymond type" EXACT [] xref: ICD10CM:Q87.8 xref: MIM:300799 xref: ORDO:163953 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060825 name: Christianson syndrome def: "A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18342287, url:https\://www.ncbi.nlm.nih.gov/pubmed/20949524, url:https\://www.ncbi.nlm.nih.gov/pubmed/25044251] subset: DO_rare_slim synonym: "mental retardation, microcephaly, epilepsy, and ataxia syndrome" EXACT [] synonym: "mental retardation, X-linked syndromic, Christianson type" EXACT [] synonym: "MRXSCH" EXACT OMO:0003012 [] synonym: "X-linked Angelman-like syndrome" EXACT [] synonym: "X-linked intellectual disability, South African type" EXACT [] synonym: "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome" EXACT [] xref: GARD:10572 xref: MESH:C537450 xref: MIM:300243 xref: ORDO:85278 xref: UMLS_CUI:C1846130 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease property_value: broadMatch "MESH:C567484" xsd:string property_value: exactMatch "MESH:C537450" xsd:string [Term] id: DOID:0060826 name: syndromic X-linked intellectual disability Shashi type def: "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10677307, url:https\://www.ncbi.nlm.nih.gov/pubmed/25256757] subset: DO_rare_slim synonym: "mental retardation, X-linked, syndromic 11, Shashi type" EXACT [] synonym: "MRXS11" EXACT OMO:0003012 [] synonym: "Shashi X-linked mental retardation syndrome" EXACT [] synonym: "SMRXS" EXACT OMO:0003012 [] synonym: "syndromic X-linked intellectual disability type 11" EXACT [] synonym: "X-linked mental retardation Shashi type" EXACT [] xref: ICD10CM:Q87.8 xref: MIM:300238 xref: ORDO:85286 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060827 name: X-linked intellectual disability-psychosis-macroorchidism syndrome def: "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10986043, url:https\://www.ncbi.nlm.nih.gov/pubmed/8651288] subset: DO_rare_slim synonym: "Lindsay-Burn syndrome" EXACT [] synonym: "mental retardation with psychosis, pyramidal signs, and macroorchidism" EXACT [] synonym: "mental retardation, X-linked, syndromic 13" EXACT [] synonym: "MRXS13" EXACT OMO:0003012 [] synonym: "PPM-X" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 79" EXACT [] synonym: "X-linked mental retardation with spasticity" EXACT [] xref: ICD10CM:F71.1 xref: MIM:300055 xref: ORDO:3077 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060828 name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome def: "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22814392] subset: DO_rare_slim synonym: "mental retardation, X-linked, syndromic 32" EXACT [] synonym: "MRXS32" EXACT OMO:0003012 [] xref: MIM:300886 xref: ORDO:324410 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060829 name: obsolete Brooks-Wisniewski-Brown syndrome def: "A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7943044] is_obsolete: true [Term] id: DOID:0060830 name: deafness-intellectual disability, Martin-Probst type syndrome def: "A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11073537] subset: DO_rare_slim synonym: "Martin-Probst syndrome" EXACT [] synonym: "mental retardation, X-linked, syndromic, Martin-Probst type" EXACT [] xref: ICD10CM:Q87.8 xref: MIM:300519 xref: ORDO:85321 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060831 name: Griscelli syndrome def: "An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12452176, url:https\://www.ncbi.nlm.nih.gov/pubmed/707528] subset: DO_rare_slim synonym: "Chediak-Higashi-like syndrome" EXACT [] synonym: "Griscelli-Prunieras syndrome" EXACT [] synonym: "partial albinism-immunodeficiency syndrome" EXACT [] xref: GARD:10913 xref: ICD10CM:E70.3 xref: MIM:PS214450 xref: ORDO:381 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:16 ! integumentary system disease [Term] id: DOID:0060832 name: Griscelli syndrome type 1 def: "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12452176, url:https\://www.ncbi.nlm.nih.gov/pubmed/9207796] subset: DO_rare_slim synonym: "Griscelli syndrome with neurological impairment" EXACT [] synonym: "Griscelli syndrome, cutaneous and neurological type" EXACT [] synonym: "Griscelli-Prunieras syndrome type 1" EXACT [] synonym: "GS1" EXACT OMO:0003012 [] synonym: "hypopigmentation-neurologic impairment syndrome" EXACT [] xref: GARD:2566 xref: MESH:C537301 xref: MIM:214450 xref: ORDO:79476 xref: SNOMEDCT_US_2023_03_01:1254946006 xref: UMLS_CUI:C1859194 is_a: DOID:0060831 ! Griscelli syndrome [Term] id: DOID:0060833 name: Griscelli syndrome type 2 def: "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12452176, url:https\://www.ncbi.nlm.nih.gov/pubmed/707528] subset: DO_rare_slim subset: NCIthesaurus synonym: "Griscelli syndrome with hemophagocytic syndrome" EXACT [] synonym: "Griscelli-Prunieras syndrome type 2" EXACT [] synonym: "GS2" EXACT OMO:0003012 [] synonym: "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome" EXACT [] synonym: "PAID syndrome" EXACT [] synonym: "partial albinism and immunodeficiency syndrome" EXACT [] xref: GARD:4483 xref: MESH:C537302 xref: MIM:607624 xref: NCI:C111814 xref: ORDO:79477 xref: UMLS_CUI:C1868679 is_a: DOID:0060831 ! Griscelli syndrome [Term] id: DOID:0060834 name: Griscelli syndrome type 3 def: "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12148598, url:https\://www.ncbi.nlm.nih.gov/pubmed/12897212] subset: DO_rare_slim synonym: "Griscelli-Prunieras syndrome type 3" EXACT [] synonym: "GS3" EXACT OMO:0003012 [] xref: GARD:9715 xref: MESH:C537303 xref: MIM:609227 xref: ORDO:79478 xref: SNOMEDCT_US_2023_03_01:1254947002 xref: UMLS_CUI:C1836573 is_a: DOID:0060831 ! Griscelli syndrome [Term] id: DOID:0060835 name: isolated microphthalmia 6 def: "An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15823920, url:https\://www.ncbi.nlm.nih.gov/pubmed/21397065] subset: DO_rare_slim synonym: "MCOP6" EXACT OMO:0003012 [] synonym: "posterior nonsyndromic microphthalmia" EXACT [] xref: ICD10CM:Q11.0 xref: MIM:613517 xref: ORDO:2542 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060836 name: isolated microphthalmia 4 def: "An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19129173] subset: DO_rare_slim synonym: "MCOP4" EXACT OMO:0003012 [] xref: ICD10CM:Q11.0 xref: MIM:613094 xref: ORDO:2542 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060837 name: isolated microphthalmia 5 def: "An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17167404, url:https\://www.ncbi.nlm.nih.gov/pubmed/18554571, url:https\://www.ncbi.nlm.nih.gov/pubmed/19753314] subset: DO_rare_slim synonym: "MCOP5" EXACT OMO:0003012 [] synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT [] synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen" EXACT [] xref: ICD10CM:Q15.8 xref: MIM:611040 xref: ORDO:251279 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060838 name: isolated microphthalmia 7 def: "An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19864492] subset: DO_rare_slim synonym: "MCOP7" EXACT OMO:0003012 [] xref: ICD10CM:Q11.0 xref: MIM:613704 xref: ORDO:2542 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060839 name: isolated microphthalmia 2 def: "An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15257456, url:https\://www.ncbi.nlm.nih.gov/pubmed/3378363] subset: DO_rare_slim synonym: "MCOP2" EXACT OMO:0003012 [] xref: ICD10CM:Q11.0 xref: MIM:610093 xref: ORDO:2542 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060840 name: isolated microphthalmia 1 def: "An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9545413] subset: DO_rare_slim synonym: "MCOP1" EXACT OMO:0003012 [] xref: ICD10CM:Q11.0 xref: MIM:251600 xref: ORDO:2542 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060841 name: isolated microphthalmia 8 def: "An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23312594, url:https\://www.ncbi.nlm.nih.gov/pubmed/23591992] subset: DO_rare_slim synonym: "MCOP8" EXACT OMO:0003012 [] xref: ICD10CM:Q11.0 xref: MIM:615113 xref: ORDO:2542 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060842 name: isolated microphthalmia 3 def: "An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14662654, url:https\://www.ncbi.nlm.nih.gov/pubmed/18783408] subset: DO_rare_slim synonym: "MCOP3" EXACT OMO:0003012 [] xref: ICD10CM:Q11.0 xref: MIM:611038 xref: ORDO:2542 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060843 name: hereditary neuropathy with liability to pressure palsies def: "A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12682341, url:https\://www.ncbi.nlm.nih.gov/pubmed/2540008, url:https\://www.ncbi.nlm.nih.gov/pubmed/8422677] subset: DO_rare_slim synonym: "current pressure-sensitive neuropathy" EXACT [] synonym: "familial recurrent polyneuropathy" EXACT [] synonym: "heterozygous microdeletion 17p11.2p12" EXACT [] synonym: "HNPP" EXACT OMO:0003012 [] synonym: "potato-grubbing palsy" EXACT [] synonym: "tomaculous neuropathy" EXACT [] synonym: "tulip-bulb digger's palsy" EXACT [] xref: MESH:C536965 xref: MIM:162500 xref: ORDO:640 xref: SNOMEDCT_US_2023_03_01:230558006 xref: UMLS_CUI:C0393814 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:870 ! neuropathy [Term] id: DOID:0060844 name: Norrie disease def: "A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1303235, url:https\://www.ncbi.nlm.nih.gov/pubmed/13998843, url:https\://www.ncbi.nlm.nih.gov/pubmed/7627181] subset: DO_rare_slim subset: NCIthesaurus synonym: "atrophia bulborum hereditaria" EXACT [] synonym: "Episkopi blindness" EXACT [] synonym: "Norrie-Warburg disease" EXACT [] xref: GARD:7224 xref: MESH:C537849 xref: MIM:310600 xref: NCI:C118634 xref: ORDO:649 xref: SNOMEDCT_US_2023_03_01:15228007 xref: UMLS_CUI:C0266526 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060847 name: Leri-Weill dyschondrosteosis def: "An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain." [url:https\://rarediseases.org/rare-diseases/leri-weilldyschondrosteosis/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10713888, url:https\://www.ncbi.nlm.nih.gov/pubmed/21712857, url:https\://www.ncbi.nlm.nih.gov/pubmed/9590292] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:3224 xref: MESH:C537119 xref: MIM:127300 xref: NCI:C126560 xref: ORDO:240 xref: SNOMEDCT_US_2023_03_01:17818006 xref: UMLS_CUI:C0265309 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0060848 name: developmental and epileptic encephalopathy 9 def: "A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22." [url:https\://pubmed.ncbi.nlm.nih.gov/20830798/, url:https\://www.ncbi.nlm.nih.gov/pubmed/18469813, url:https\://www.ncbi.nlm.nih.gov/pubmed/19752159] subset: DO_rare_slim synonym: "DEE9" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 9" EXACT [] synonym: "early infantile female-limited epilecptic encephalopathy" EXACT [] synonym: "EFMR" EXACT OMO:0003012 [] synonym: "EIEE9" EXACT OMO:0003012 [] synonym: "female restricted epilepsy with mental retardation" EXACT [] synonym: "Juberg Hellman syndrome" EXACT [] xref: GARD:10806 xref: MIM:300088 xref: ORDO:101039 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0060849 name: osteoporosis-pseudoglioma syndrome def: "A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11719191, url:https\://www.ncbi.nlm.nih.gov/pubmed/20034086, url:https\://www.ncbi.nlm.nih.gov/pubmed/3955877] subset: DO_rare_slim subset: NCIthesaurus synonym: "ocular form of osteogenesis imperfecta" EXACT [] synonym: "OPPG" EXACT OMO:0003012 [] xref: GARD:4160 xref: MESH:C536063 xref: MIM:259770 xref: NCI:C130998 xref: ORDO:2788 xref: SNOMEDCT_US_2023_03_01:254112001 xref: UMLS_CUI:C0432252 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060850 name: annular pancreas def: "A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1860255, url:https\://www.ncbi.nlm.nih.gov/pubmed/677171] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:705 xref: ICD10CM:Q45.1 xref: MESH:C536376 xref: MIM:167750 xref: NCI:C98813 xref: ORDO:675 xref: SNOMEDCT_US_2023_03_01:40315008 xref: UMLS_CUI:C0149955 is_a: DOID:26 ! pancreas disease [Term] id: DOID:0060851 name: pemphigus vulgaris def: "A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2217197, url:https\://www.ncbi.nlm.nih.gov/pubmed/4577497] subset: DO_rare_slim subset: NCIthesaurus synonym: "familial pemphigus vulgaris" EXACT [] xref: GARD:7355 xref: ICD10CM:L10.0 xref: MESH:D010392 xref: MIM:169610 xref: NCI:C34910 xref: ORDO:704 xref: SNOMEDCT_US_2023_03_01:49420001 xref: UMLS_CUI:C0030809 is_a: DOID:9182 ! pemphigus [Term] id: DOID:0060852 name: Pierson syndrome def: "A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15367484, url:https\://www.ncbi.nlm.nih.gov/pubmed/15372515] subset: DO_rare_slim subset: NCIthesaurus synonym: "microcoria-congenital nephrosis syndrome" EXACT [] xref: GARD:9420 xref: MESH:C537185 xref: MIM:609049 xref: NCI:C128145 xref: ORDO:2670 xref: SNOMEDCT_US_2023_03_01:723449004 xref: UMLS_CUI:C1836876 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060853 name: Potocki-Lupski syndrome def: "A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10615134, url:https\://www.ncbi.nlm.nih.gov/pubmed/20425816] subset: DO_rare_slim subset: NCIthesaurus synonym: "17p11.2 microduplication syndrome" EXACT [] synonym: "chromosome 17p11.2 duplication syndrome" EXACT [] synonym: "trisomy 17p11.2" EXACT [] xref: GARD:10145 xref: MESH:C538355 xref: MIM:610883 xref: NCI:C124846 xref: ORDO:1713 xref: SNOMEDCT_US_2023_03_01:734016004 xref: UMLS_CUI:C2931246 is_a: DOID:0060429 ! chromosomal duplication syndrome [Term] id: DOID:0060854 name: autosomal recessive pseudohypoaldosteronism type 1 def: "A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10202170, url:https\://www.ncbi.nlm.nih.gov/pubmed/10404817, url:https\://www.ncbi.nlm.nih.gov/pubmed/8589714] subset: DO_rare_slim subset: NCIthesaurus synonym: "autosomal recessive PHA 1" EXACT [] synonym: "PHA1B" EXACT OMO:0003012 [] xref: GARD:4552 xref: MESH:D011546 xref: MIM:264350 xref: NCI:C123251 xref: ORDO:171876 xref: ORDO:756 xref: SNOMEDCT_US_2023_03_01:43941006 xref: UMLS_CUI:C0268436 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4479 ! pseudohypoaldosteronism [Term] id: DOID:0060855 name: autosomal dominant pseudohypoaldosteronism type 1 def: "A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9662404] subset: DO_rare_slim synonym: "autosomal dominant PHA 1" EXACT [] synonym: "PHA1A" EXACT OMO:0003012 [] xref: GARD:9145 xref: MESH:D011546 xref: MIM:177735 xref: ORDO:756 xref: UMLS_CUI:C1449843 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4479 ! pseudohypoaldosteronism [Term] id: DOID:0060856 name: right atrial isomerism def: "A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14648004, url:https\://www.ncbi.nlm.nih.gov/pubmed/20413652] subset: DO_rare_slim synonym: "asplenia with cardiovascular anomalies" EXACT [] synonym: "Ivemark syndrome" EXACT [] xref: ICD10CM:Q20.6 xref: MIM:208530 xref: ORDO:97548 is_a: DOID:0050545 ! visceral heterotaxy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0060857 name: septooptic dysplasia def: "A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8696006, url:https\://www.ncbi.nlm.nih.gov/pubmed/9620767] subset: DO_rare_slim subset: NCIthesaurus synonym: "De Morsier syndrome" EXACT [] synonym: "septo-optic dysplasia" EXACT [] synonym: "SOD" EXACT OMO:0003012 [] xref: GARD:7627 xref: MESH:D025962 xref: MIM:182230 xref: NCI:C85063 xref: ORDO:3157 xref: SNOMEDCT_US_2023_03_01:204073006 xref: UMLS_CUI:C0338503 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060858 name: hypotonia-cystinuria syndrome def: "A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." [url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163690, url:https\://www.ncbi.nlm.nih.gov/pubmed/11524703, url:https\://www.ncbi.nlm.nih.gov/pubmed/16385448, url:https\://www.ncbi.nlm.nih.gov/pubmed/18234729] subset: DO_rare_slim synonym: "cystinuria with mitochondrial disease" EXACT [] xref: ICD10CM:E72.0 xref: MESH:C564710 xref: MIM:606407 xref: ORDO:163690 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:0060859 name: salmonellosis def: "A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has symptoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment." [url:https\://www.cdc.gov/salmonella/general/index.html, url:https\://www.foodsafety.gov/poisoning/causes/bacteriaviruses/salmonella] subset: DO_infectious_disease_slim synonym: "Salmonella infection" EXACT [] xref: ICD10CM:A02.0 xref: ICD9CM:003.0 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:0060861 name: microphthalmia with limb anomalies def: "A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21194678, url:https\://www.ncbi.nlm.nih.gov/pubmed/6846395] subset: DO_rare_slim synonym: "anophthalmia-syndactyly syndrome" EXACT [] synonym: "MLA" EXACT OMO:0003012 [] synonym: "OAS" EXACT OMO:0003012 [] synonym: "ophthalmoacromelic syndrome" EXACT [] synonym: "Waardenburg anophthalmia syndrome" EXACT [] xref: ICD10CM:Q87.2 xref: MIM:206920 xref: ORDO:1106 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060862 name: mal de Meleda def: "A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11285253, url:https\://www.ncbi.nlm.nih.gov/pubmed/9887370] {comment="url:https://pubmed.ncbi.nlm.nih.gov/26139149/"} subset: DO_rare_slim synonym: "keratosis palmoplantaris transgrediens of Siemens" EXACT [] synonym: "MDM" EXACT OMO:0003012 [] synonym: "Meleda disease" EXACT [] synonym: "palmoplantar keratoderma, Gamborg-Nielsen type" EXACT [] synonym: "palmoplantar keratoderma, Norrbotten type" EXACT [] synonym: "PPK, Gamborg-Nielsen type" EXACT [] synonym: "PPKGN" EXACT OMO:0003012 [] synonym: "PPKNR" EXACT OMO:0003012 [] synonym: "transgrediens palmoplantar keratoderma of Siemens" EXACT [] xref: GARD:92 xref: ICD10CM:Q82.8 xref: MESH:C565454 xref: MIM:248300 xref: ORDO:86923 xref: ORDO:87503 xref: UMLS_CUI:C1855644 xref: UMLS_CUI:C4273986 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3390 ! palmoplantar keratosis property_value: exactMatch "GARD:92" xsd:string property_value: exactMatch "MESH:C565454" xsd:string property_value: exactMatch "ORDO:86923" xsd:string property_value: exactMatch "UMLS_CUI:C1855644" xsd:string property_value: exactMatch "UMLS_CUI:C4273986" xsd:string [Term] id: DOID:0060863 name: patterned macular dystrophy def: "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22466463] subset: DO_rare_slim synonym: "patterned dystrophy of retinal pigment epithelium" EXACT [] xref: ICD10CM:H35.5 xref: MIM:PS169150 xref: ORDO:99001 is_a: DOID:4448 ! macular degeneration [Term] id: DOID:0060864 name: patterned macular dystrophy 2 def: "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12724643, url:https\://www.ncbi.nlm.nih.gov/pubmed/26691986] synonym: "butterfly-shaped pigmentary maculary dystrophy 2" EXACT [] synonym: "MDPT2" EXACT OMO:0003012 [] xref: MIM:608970 is_a: DOID:0060863 ! patterned macular dystrophy [Term] id: DOID:0060865 name: patterned macular dystrophy 3 def: "A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26744326] synonym: "Martinique crinkled retinal pigment epitheliopathy" EXACT [] synonym: "MDPT3" EXACT OMO:0003012 [] xref: MIM:617111 is_a: DOID:0060863 ! patterned macular dystrophy [Term] id: DOID:0060866 name: patterned macular dystrophy 1 def: "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8251014] synonym: "butterfly-shaped pigmentary maculary dystrophy 1" EXACT [] synonym: "MDPT1" EXACT OMO:0003012 [] xref: MIM:169150 is_a: DOID:0060863 ! patterned macular dystrophy [Term] id: DOID:0060867 name: macrocephaly-autism syndrome def: "A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15805158, url:https\://www.ncbi.nlm.nih.gov/pubmed/1719811] subset: DO_rare_slim synonym: "macrocephaly-intellectual disability-autism syndrome" EXACT [] xref: MESH:C565342 xref: MIM:605309 xref: ORDO:210548 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060868 name: leukoencephalopathy with vanishing white matter def: "A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood." [url:https\://medlineplus.gov/genetics/condition/leukoencephalopathy-with-vanishing-white-matter/, url:https\://pubmed.ncbi.nlm.nih.gov/11835386/, url:https\://pubmed.ncbi.nlm.nih.gov/15136673/, url:https\://www.ncbi.nlm.nih.gov/pubmed/11704758] subset: DO_rare_slim synonym: "CACH" EXACT OMO:0003012 [] synonym: "CACH/VWM" EXACT OMO:0003012 [] synonym: "childhood ataxia with central nervous system hypomyelination" EXACT [] synonym: "ovarioleukodystrophy" RELATED [] synonym: "vanishing white matter leukodystrophy" EXACT [] xref: GARD:231 xref: ICD10CM:E75.2 xref: MIM:PS603896 xref: ORDO:135 xref: ORDO:157713 xref: ORDO:157716 xref: ORDO:157719 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10579 ! leukodystrophy property_value: narrowMatch "ORDO:157713" xsd:string property_value: narrowMatch "ORDO:157716" xsd:string property_value: narrowMatch "ORDO:157719" xsd:string property_value: relatedMatch "ORDO:99853" xsd:string [Term] id: DOID:0060869 name: late-onset retinal degeneration def: "A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12944416] subset: DO_rare_slim synonym: "autosomal dominant late-onset retinal degeneration" EXACT [] synonym: "LORD" EXACT OMO:0003012 [] xref: GARD:4357 xref: MESH:C565309 xref: MIM:605670 xref: ORDO:67042 is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:0060870 name: isolated growth hormone deficiency def: "A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8288694] subset: DO_rare_slim subset: NCIthesaurus synonym: "congenital IGHD" EXACT [] synonym: "congenital isolated GH deficiency" EXACT [] synonym: "congenital isolated growth hormone deficiency" EXACT [] synonym: "familial isolated growth hormone deficiency" EXACT [] synonym: "IGHD" EXACT OMO:0003012 [] synonym: "non-acquired isolated growth hormone deficiency" EXACT [] xref: GARD:12556 xref: ICD10CM:E23.0 xref: ICD9CM:253.3 xref: MESH:D004393 xref: NCI:C34555 xref: ORDO:631 xref: SNOMEDCT_US_2023_03_01:270485009 xref: UMLS_CUI:C0013338 is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:0060871 name: autosomal dominant keratitis-ichthyosis-deafness syndrome def: "A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11912510, url:https\://www.ncbi.nlm.nih.gov/pubmed/11918723, url:https\://www.ncbi.nlm.nih.gov/pubmed/3579358] subset: DO_rare_slim synonym: "autosomal dominant KID syndrome" EXACT [] xref: ICD10CM:Q80.8 xref: MIM:148210 xref: ORDO:477 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060872 name: isolated growth hormone deficiency type II def: "An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15671105, url:https\://www.ncbi.nlm.nih.gov/pubmed/8288694] subset: DO_rare_slim synonym: "autosomal dominant isolated growth hormone deficiency" EXACT [] synonym: "autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency" EXACT [] synonym: "congenital IGHD type II" EXACT [] synonym: "congenital isolated GH deficiency type II" EXACT [] synonym: "congenital isolated growth hormone deficiency type II" EXACT [] synonym: "IGHD II" EXACT OMO:0003012 [] xref: ICD10CM:E23.0 xref: MESH:C562704 xref: MIM:173100 xref: ORDO:231679 is_a: DOID:0060870 ! isolated growth hormone deficiency [Term] id: DOID:0060873 name: isolated growth hormone deficiency type IA def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16060904, url:https\://www.ncbi.nlm.nih.gov/pubmed/8288694] subset: DO_rare_slim synonym: "autosomal recessive isolated growth hormone deficiency" EXACT [] synonym: "IGHD IA" EXACT OMO:0003012 [] synonym: "Illig-type growth hormone deficiency" EXACT [] synonym: "pituitary dwarfism I" EXACT [] synonym: "primordial dwarfism" EXACT [] synonym: "sexual ateleiotic dwarfism" EXACT [] xref: ICD10CM:E23.0 xref: MIM:262400 xref: ORDO:231662 is_a: DOID:0060870 ! isolated growth hormone deficiency [Term] id: DOID:0060874 name: isolated growth hormone deficiency type IB def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10678654, url:https\://www.ncbi.nlm.nih.gov/pubmed/8288694, url:https\://www.ncbi.nlm.nih.gov/pubmed/8528260] subset: DO_rare_slim synonym: "congenital IGHD type IB" EXACT [] synonym: "congenital isolated GH deficiency type IB" EXACT [] synonym: "congenital isolated growth hormone deficiency type IB" EXACT [] synonym: "dwarfism of Sindh" EXACT [] synonym: "IGHD IB" EXACT OMO:0003012 [] xref: ICD10CM:E23.0 xref: MIM:612781 xref: MIM:618157 xref: ORDO:231671 is_a: DOID:0060870 ! isolated growth hormone deficiency property_value: exactMatch "MIM:618157" xsd:string [Term] id: DOID:0060875 name: isolated growth hormone deficiency type III def: "An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8013627, url:https\://www.ncbi.nlm.nih.gov/pubmed/8288694] subset: DO_rare_slim synonym: "congenital IGHD type III" EXACT [] synonym: "congenital isolated GH deficiency type III" EXACT [] synonym: "congenital isolated growth hormone deficiency type III" EXACT [] synonym: "Fleisher syndrome" EXACT [] synonym: "growth hormone deficiency with hypogammaglobulinemia" EXACT [] synonym: "IGHD III" EXACT OMO:0003012 [] synonym: "X-linked agammaglobulinemia and isolated growth hormone deficiency" EXACT [] synonym: "X-linked hypogammaglobulinemia and isolated growth hormone deficiency" EXACT [] synonym: "X-linked IGHD" EXACT [] synonym: "X-linked isolated growth hormone deficiency" EXACT [] xref: GARD:3921 xref: ICD10CM:E23.0 xref: MIM:307200 xref: ORDO:231692 is_a: DOID:0060870 ! isolated growth hormone deficiency is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060877 name: bullous congenital ichthyosiform erythroderma def: "An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/4247927, url:https\://www.ncbi.nlm.nih.gov/pubmed/7524919] subset: DO_rare_slim subset: NCIthesaurus synonym: "bullous type ichthyosis" EXACT [] synonym: "ichthyosis bullosa of Siemens" EXACT [] synonym: "superficial epidermolytic ichthyosis" EXACT [] xref: GARD:2966 xref: MESH:D053560 xref: MIM:146800 xref: NCI:C84777 xref: ORDO:455 xref: SNOMEDCT_US_2023_03_01:254169002 xref: UMLS_CUI:C0432306 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1697 ! ichthyosis [Term] id: DOID:0060878 name: hypoparathyroidism-deafness-renal disease syndrome def: "A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10935639, url:https\://www.ncbi.nlm.nih.gov/pubmed/874665] subset: DO_rare_slim subset: NCIthesaurus synonym: "Barakat syndrome" EXACT [] synonym: "HDR syndrome" EXACT [] synonym: "hypoparathyroidism, sensorineural deafness, and renal disease" EXACT [] xref: MESH:C537907 xref: MIM:146255 xref: NCI:C130983 xref: ORDO:2237 xref: SNOMEDCT_US_2023_03_01:724282009 xref: UMLS_CUI:C1840333 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0060879 name: primary hypomagnesemia def: "A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18818955] subset: DO_rare_slim synonym: "HOMG" EXACT OMO:0003012 [] synonym: "primary familial hypomagnesemia" EXACT [] xref: ICD10CM:E83.4 xref: MIM:PS602014 xref: ORDO:34526 is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0060880 name: renal hypomagnesemia 3 def: "A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10390358, url:https\://www.ncbi.nlm.nih.gov/pubmed/16501001] subset: DO_rare_slim synonym: "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" EXACT [] synonym: "FHHNC without severe ocular involvement" EXACT [] synonym: "HOMG3" EXACT OMO:0003012 [] synonym: "isolated renal hypomagnesemia" EXACT [] synonym: "primary hypomagnesemia due to defect in renal tubular transport of magnesium" EXACT [] synonym: "renal hypomagnesemia type 3" EXACT [] xref: ICD10CM:E83.4 xref: MIM:248250 xref: ORDO:31043 is_a: DOID:0060879 ! primary hypomagnesemia [Term] id: DOID:0060881 name: renal hypomagnesemia 5 with ocular involvement def: "A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17033971] subset: DO_rare_slim synonym: "bilateral macular coloboma with hypercalciuria" EXACT [] synonym: "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement" EXACT [] synonym: "FHHNC with severe ocular involvement" EXACT [] synonym: "hypercalciuria-bilateral macular coloboma syndrome" EXACT [] synonym: "Meier-Blumberg-Imahorn syndrome" EXACT [] xref: MESH:C536148 xref: MIM:248190 xref: ORDO:2196 xref: UMLS_CUI:C2931121 is_a: DOID:0060879 ! primary hypomagnesemia [Term] id: DOID:0060882 name: renal hypomagnesemia 4 def: "A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in homozygous mutation in the EGF gene on chromosome 4q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12584272, url:https\://www.ncbi.nlm.nih.gov/pubmed/17671655] subset: DO_rare_slim synonym: "HOMG4" EXACT OMO:0003012 [] xref: ICD10CM:E83.4 xref: MIM:611718 xref: ORDO:34527 is_a: DOID:0060879 ! primary hypomagnesemia [Term] id: DOID:0060883 name: intestinal hypomagnesemia 1 def: "A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12032568, url:https\://www.ncbi.nlm.nih.gov/pubmed/12032570, url:https\://www.ncbi.nlm.nih.gov/pubmed/18818955] subset: DO_rare_slim synonym: "HOMG1" EXACT OMO:0003012 [] synonym: "hypomagnesemia caused by selective magnesium malabsorption" EXACT [] synonym: "hypomagnesemia intestinal type 1" EXACT [] synonym: "hypomagnesemic tetany" EXACT [] synonym: "intestinal hypomagnesemia with secondary hypocalcemia" EXACT [] synonym: "primary hypomagnesemia with secondary hypocalcemia" EXACT [] xref: ICD10CM:E83.4 xref: MIM:602014 xref: ORDO:30924 is_a: DOID:0060879 ! primary hypomagnesemia [Term] id: DOID:0060884 name: renal hypomagnesemia 6 def: "A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21397062] subset: DO_rare_slim synonym: "HOMG6" EXACT OMO:0003012 [] xref: GARD:12155 xref: ICD10CM:E83.4 xref: MIM:613882 xref: ORDO:34527 is_a: DOID:0060879 ! primary hypomagnesemia [Term] id: DOID:0060885 name: renal hypomagnesemia 2 def: "A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11062458, url:https\://www.ncbi.nlm.nih.gov/pubmed/3298795] subset: DO_rare_slim synonym: "autosomal dominant primary hypomagnesemia with hypocalciuria" EXACT [] synonym: "HOMG2" EXACT OMO:0003012 [] xref: GARD:3350 xref: ICD10CM:E83.4 xref: MIM:154020 xref: ORDO:34528 is_a: DOID:0060879 ! primary hypomagnesemia [Term] id: DOID:0060886 name: osteopathia striata with cranial sclerosis def: "An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19079258] subset: DO_rare_slim synonym: "hyperostosis generalisata with striations" EXACT [] synonym: "Robinow-Unger syndrome" EXACT [] xref: MESH:C536053 xref: MIM:300373 xref: ORDO:2780 xref: SNOMEDCT_US_2023_03_01:254129003 xref: UMLS_CUI:C0432268 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:0060887 name: ossification of the posterior longitudinal ligament of spine def: "A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27374772] subset: DO_rare_slim synonym: "OPLL" EXACT OMO:0003012 [] xref: GARD:9699 xref: MIM:602475 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:0060888 name: transient myeloproliferative syndrome def: "A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/792759, url:https\://www.ncbi.nlm.nih.gov/pubmed/6229618] subset: DO_cancer_slim subset: DO_rare_slim synonym: "MST" EXACT OMO:0003012 [] synonym: "TAM" EXACT OMO:0003012 [] synonym: "transient abnormal myelopoiesis" EXACT [] synonym: "transient leukemia" EXACT [] synonym: "transient leukemia of Down syndrome" EXACT [] synonym: "transient myeloproliferative disease" EXACT [] xref: GARD:12765 xref: ICD10CM:D47.7 xref: MIM:159595 xref: ORDO:420611 is_a: DOID:2226 ! myeloproliferative neoplasm [Term] id: DOID:0060889 name: prune belly syndrome def: "A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43." [url:https\://en.wikipedia.org/wiki/Prune_belly_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15912376, url:https\://www.ncbi.nlm.nih.gov/pubmed/22077972] subset: DO_rare_slim synonym: "abdominal muscle deficiency syndrome" EXACT [] synonym: "Eagle-Barret syndrome" EXACT [] synonym: "Obrisnksy syndrome" EXACT [] xref: GARD:7479 xref: ICD10CM:Q79.4 xref: MESH:D011535 xref: MIM:100100 xref: ORDO:2970 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060890 name: ectopic Cushing syndrome def: "A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27387249] subset: DO_rare_slim synonym: "Cushing syndrome due to ectopic ACTH secretion" EXACT [] synonym: "ectopic ACTH secreting tumor" EXACT [] xref: ICD10CM:E24.3 xref: ORDO:99889 is_a: DOID:446 ! primary hyperaldosteronism [Term] id: DOID:0060891 name: Parkinson's disease 19A def: "An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22563501, url:https\://www.ncbi.nlm.nih.gov/pubmed/23211418, url:https\://www.ncbi.nlm.nih.gov/pubmed/26703368] subset: DO_rare_slim synonym: "juvenile onset Parkinson disease 19A" EXACT [] synonym: "juvenile onset Parkinson's disease 19A" EXACT [] xref: ICD10CM:G20 xref: MIM:615528 xref: ORDO:391411 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease [Term] id: DOID:0060892 name: late onset Parkinson's disease def: "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25904081] subset: DO_rare_slim synonym: "late onset Parkinson disease" EXACT [] xref: MIM:168600 xref: ORDO:411602 is_a: DOID:14330 ! Parkinson's disease [Term] id: DOID:0060893 name: juvenile-onset Parkinson's disease def: "An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25904081] synonym: "juvenile-onset Parkinson disease" EXACT [] is_a: DOID:0060894 ! early-onset Parkinson's disease [Term] id: DOID:0060894 name: early-onset Parkinson's disease def: "A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25904081] subset: DO_rare_slim synonym: "early-onset Parkinson disease" EXACT [] synonym: "Young-onset Parkinson disease" EXACT [] xref: ORDO:2828 is_a: DOID:14330 ! Parkinson's disease [Term] id: DOID:0060895 name: Parkinson's disease 4 def: "A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14755720, url:https\://www.ncbi.nlm.nih.gov/pubmed/17251522] synonym: "autosomal dominant Lewy body Parkinson disease 4" EXACT [] synonym: "autosomal dominant Parkinson disease 4" EXACT [] synonym: "autosomal dominant Parkinson's disease 4" EXACT [] xref: ICD10CM:G20 xref: MIM:605543 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0060896 name: Parkinson's disease 23 def: "An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26942284] synonym: "autosomal recessive early-onset Parkinson disease 23" EXACT [] synonym: "autosomal recessive early-onset Parkinson's disease 23" EXACT [] xref: ICD10CM:G20 xref: MIM:616840 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease [Term] id: DOID:0060897 name: Parkinson's disease 17 def: "A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21763483] synonym: "autosomal dominant Parkinson disease 17" EXACT [] synonym: "Parkinson disease 17" EXACT [] xref: MIM:614203 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0060898 name: Parkinson's disease 20 def: "An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23804563, url:https\://www.ncbi.nlm.nih.gov/pubmed/23804577] synonym: "early-onset Parkinson disease 20" EXACT [] synonym: "early-onset Parkinson's disease 20" EXACT [] xref: MIM:615530 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease [Term] id: DOID:0060900 name: Parkinson's disease 14 def: "A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18570303] synonym: "autosomal recessive Parkinson disease 14" EXACT [] synonym: "autosomal recessive Parkinson's disease 14" EXACT [] synonym: "Dystonia-Parkinsonism Adult-Onset" EXACT [] xref: MESH:C567844 xref: MIM:612953 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0060901 name: lymphoplasmacytic lymphoma alt_id: DOID:0050747 def: "A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10632755] comment: Lymphoplasmacytic lymphoma, also known as Waldenstrom macroglobulinemia. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "lymphoplasmacytic lymphoma with IgM gammopathy" EXACT [] synonym: "Waldenstroem's macroglobulinemia" EXACT [] synonym: "Waldenstrom Macroglobulinemia" EXACT [] xref: GARD:7872 xref: ICD10CM:C88.0 xref: ICD9CM:273.3 xref: ICDO:9671/3 xref: MESH:D008258 xref: MIM:153600 xref: MIM:610430 xref: NCI:C115212 xref: NCI:C80307 xref: ORDO:33226 xref: SNOMEDCT_US_2023_03_01:35562000 xref: UMLS_CUI:C0024419 xref: UMLS_CUI:C2936755 is_a: DOID:707 ! B-cell lymphoma property_value: exactMatch "MESH:D008258" xsd:string [Term] id: DOID:0060902 name: Norman-Roberts syndrome def: "A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10973257, url:https\://www.ncbi.nlm.nih.gov/pubmed/15083694] subset: DO_rare_slim synonym: "lissencephaly 2" EXACT [] synonym: "lissencephaly syndrome, Norman-Roberts type" EXACT [] xref: MESH:C537848 xref: MIM:257320 xref: ORDO:89844 xref: SNOMEDCT_US_2023_03_01:717977003 xref: UMLS_CUI:C0796089 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0060903 name: thrombosis def: "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system." [url:https\://en.wikipedia.org/wiki/Thrombosis] xref: MESH:D013927 is_a: DOID:178 ! vascular disease [Term] id: DOID:0060904 name: legume allergy def: "A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product." [url:https\://en.wikipedia.org/wiki/Legume] synonym: "Fabaceae allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060911 name: karyomegalic interstitial nephritis def: "An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16678356, url:https\://www.ncbi.nlm.nih.gov/pubmed/22772369] subset: DO_rare_slim synonym: "KIN" EXACT OMO:0003012 [] synonym: "KMIN" EXACT OMO:0003012 [] xref: GARD:11003 xref: ICD10CM:N11.8 xref: MIM:614817 xref: ORDO:401996 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1063 ! interstitial nephritis [Term] id: DOID:0060912 name: craniosynostosis 7 def: "A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation." [url:https\://pubmed.ncbi.nlm.nih.gov/23438589/] synonym: "CRS7" EXACT OMO:0003012 [] xref: MIM:617439 is_a: DOID:0080578 ! digenic disease is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:0060913 name: proteosome-associated autoinflammatory syndrome def: "A syndrome that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications." [url:https\://pubmed.ncbi.nlm.nih.gov/25521013/] subset: DO_rare_slim xref: MIM:PS256040 xref: ORDO:324977 is_a: DOID:225 ! syndrome [Term] id: DOID:0060914 name: proteosome-associated autoinflammatory syndrome 2 def: "A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12." [url:https\://pubmed.ncbi.nlm.nih.gov/29805043/] synonym: "PRAAS2" EXACT OMO:0003012 [] xref: MIM:618048 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome [Term] id: DOID:0060915 name: proteosome-associated autoinflammatory syndrome 4 def: "A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11." [url:https\://pubmed.ncbi.nlm.nih.gov/30664889/] synonym: "PRAAS4" EXACT OMO:0003012 [] xref: MIM:619183 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome [Term] id: DOID:0060916 name: proteasome-associated autoinflammatory syndrome 3 def: "A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21." [url:https\://pubmed.ncbi.nlm.nih.gov/26524591/] synonym: "PRAAS3" EXACT OMO:0003012 [] xref: MIM:617591 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0060917 name: facioscapulohumeral muscular dystrophy 3 def: "A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression." [url:https\://pubmed.ncbi.nlm.nih.gov/32467133/] synonym: "facioscapulohumeral muscular dystrophy type 3" EXACT [] synonym: "FSHD3" EXACT OMO:0003012 [] xref: MIM:619477 is_a: DOID:0080578 ! digenic disease is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy [Term] id: DOID:0060918 name: facioscapulohumeral muscular dystrophy 4 def: "A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression." [url:https\://pubmed.ncbi.nlm.nih.gov/27153398/] synonym: "facioscapulohumeral muscular dystrophy type 4" EXACT [] synonym: "FSHD4" EXACT OMO:0003012 [] xref: MIM:619478 is_a: DOID:0080578 ! digenic disease is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy [Term] id: DOID:0060919 name: proteosome-associated autoinflammatory syndrome 5 def: "A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22." [url:https\://pubmed.ncbi.nlm.nih.gov/31783057/] synonym: "PRAAS5" EXACT OMO:0003012 [] xref: MIM:619175 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome [Term] id: DOID:0060920 name: otosclerosis 1 def: "An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1." [url:https\://pubmed.ncbi.nlm.nih.gov/9425236/] synonym: "OTSC1" EXACT OMO:0003012 [] xref: MIM:166800 is_a: DOID:12185 ! otosclerosis [Term] id: DOID:0060921 name: otosclerosis 2 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q." [url:https\://pubmed.ncbi.nlm.nih.gov/11170898/] synonym: "OTSC2" EXACT OMO:0003012 [] xref: MIM:605727 is_a: DOID:12185 ! otosclerosis [Term] id: DOID:0060922 name: otosclerosis 3 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p." [url:https\://pubmed.ncbi.nlm.nih.gov/17568407/] synonym: "OTSC3" EXACT OMO:0003012 [] xref: MIM:608244 is_a: DOID:12185 ! otosclerosis [Term] id: DOID:0060923 name: otosclerosis 4 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q." [url:https\://pubmed.ncbi.nlm.nih.gov/16618911/] synonym: "OTSC4" EXACT OMO:0003012 [] xref: MIM:611571 is_a: DOID:12185 ! otosclerosis [Term] id: DOID:0060924 name: otosclerosis 5 def: "An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24." [url:https\://pubmed.ncbi.nlm.nih.gov/15173231/] synonym: "OTSC5" EXACT OMO:0003012 [] xref: MIM:608787 is_a: DOID:12185 ! otosclerosis [Term] id: DOID:0060925 name: otosclerosis 7 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13." [url:https\://pubmed.ncbi.nlm.nih.gov/17213839/] synonym: "OTSC7" EXACT OMO:0003012 [] xref: MIM:611572 is_a: DOID:12185 ! otosclerosis [Term] id: DOID:0060926 name: otosclerosis 8 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11." [url:https\://pubmed.ncbi.nlm.nih.gov/17568407/] synonym: "OTSC8" EXACT OMO:0003012 [] xref: MIM:612096 is_a: DOID:12185 ! otosclerosis [Term] id: DOID:0060927 name: otosclerosis 10 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44." [url:https\://pubmed.ncbi.nlm.nih.gov/21470211/] synonym: "OTSC10" EXACT OMO:0003012 [] xref: MIM:615589 is_a: DOID:12185 ! otosclerosis [Term] id: DOID:0060928 name: otosclerosis 11 def: "An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24." [url:https\://pubmed.ncbi.nlm.nih.gov/34633540/] synonym: "OTSC11" EXACT OMO:0003012 [] xref: MIM:620576 is_a: DOID:12185 ! otosclerosis [Term] id: DOID:0060929 name: non-syndromic X-linked intellectual developmental disorder 111 def: "A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27." [url:https\://pubmed.ncbi.nlm.nih.gov/35840571/] synonym: "XLID111" EXACT OMO:0003012 [] xref: MIM:301107 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability [Term] id: DOID:0060930 name: developmental dysplasia of the hip def: "A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum." [url:https\://pubmed.ncbi.nlm.nih.gov/11246461/] xref: MESH:D000082602 xref: MIM:PS142700 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:0060931 name: developmental dysplasia of the hip 1 def: "A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22." [url:https\://pubmed.ncbi.nlm.nih.gov/11246461/, url:https\://pubmed.ncbi.nlm.nih.gov/16773577/] synonym: "DDH1" EXACT OMO:0003012 [] xref: MIM:142700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060930 ! developmental dysplasia of the hip [Term] id: DOID:0060932 name: developmental dysplasia of the hip 2 def: "A developmental dysplasia of the hip that is characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis and that has_material_basis_in variation in the chromosomal region 3p22.2." [url:https\://pubmed.ncbi.nlm.nih.gov/23716478/] synonym: "DDH2" EXACT OMO:0003012 [] xref: MIM:615612 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060930 ! developmental dysplasia of the hip [Term] id: DOID:0060933 name: developmental delay, dysmorphic facies, and brain anomalies def: "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/34112922/, url:https\://pubmed.ncbi.nlm.nih.gov/37134193/, url:https\://pubmed.ncbi.nlm.nih.gov/37962958/] synonym: "DEVDFB" EXACT OMO:0003012 [] xref: MIM:620535 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0060934 name: neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy def: "An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21." [url:https\://pubmed.ncbi.nlm.nih.gov/28626029/, url:https\://pubmed.ncbi.nlm.nih.gov/31687267/, url:https\://pubmed.ncbi.nlm.nih.gov/35150401/, url:https\://pubmed.ncbi.nlm.nih.gov/37713627/] synonym: "NEDMEBA" EXACT OMO:0003012 [] xref: MIM:617862 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0060935 name: infantile hypotonia with psychomotor retardation and characteristic facies-3 def: "An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24." [url:https\://pubmed.ncbi.nlm.nih.gov/27040691/, url:https\://pubmed.ncbi.nlm.nih.gov/27040692/, url:https\://pubmed.ncbi.nlm.nih.gov/30103036/] subset: DO_rare_slim synonym: "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3" EXACT [] synonym: "IHPRF3" EXACT OMO:0003012 [] synonym: "TBCK-related intellectual disability syndrome" EXACT [] xref: MIM:616900 xref: ORDO:488632 xref: UMLS_CUI:C5567480 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0060936 name: dystonia 28, childhood-onset def: "A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/27839873/, url:https\://pubmed.ncbi.nlm.nih.gov/27992417/] subset: DO_rare_slim synonym: "DYSTONIA 28, CHILDHOOD-ONSET" EXACT [] synonym: "DYT28" EXACT OMO:0003012 [] xref: ICD10CM:G24.8 xref: MIM:617284 xref: ORDO:589618 xref: UMLS_CUI:C4310633 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia [Term] id: DOID:0060937 name: dystonia 30 def: "A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13." [url:https\://pubmed.ncbi.nlm.nih.gov/27174565/, url:https\://pubmed.ncbi.nlm.nih.gov/32808683/] synonym: "DYT30" EXACT OMO:0003012 [] xref: MIM:619291 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia [Term] id: DOID:0060938 name: dystonia 31 def: "A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22." [url:https\://pubmed.ncbi.nlm.nih.gov/34596301/] synonym: "DYT31" EXACT OMO:0003012 [] synonym: "ZECH-BOESCH SYNDROME" EXACT [] xref: MIM:619565 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0060939 name: dystonia 32 def: "A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23." [url:https\://pubmed.ncbi.nlm.nih.gov/33452836/] synonym: "DYT32" EXACT OMO:0003012 [] xref: MIM:619637 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0060940 name: dystonia 33 def: "A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22." [url:https\://pubmed.ncbi.nlm.nih.gov/33236446/] xref: MIM:619687 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0060941 name: interstitial lung disease 1 def: "An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22." [url:https\://academic.oup.com/hmg/article/25/8/1457/2384565, url:https\://pubmed.ncbi.nlm.nih.gov/30854216/] subset: DO_rare_slim synonym: "Idiopathic pulmonary fibrosis" EXACT [] xref: GARD:8609 xref: MIM:619611 xref: ORDO:2032 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3082 ! interstitial lung disease [Term] id: DOID:0060942 name: Ullrich congenital muscular dystrophy 1B def: "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22." [url:https\://pubmed.ncbi.nlm.nih.gov/23622361/] xref: MIM:620727 is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy [Term] id: DOID:0060943 name: Ullrich congenital muscular dystrophy 1C def: "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37." [url:https\://pubmed.ncbi.nlm.nih.gov/23622361/] xref: MIM:620728 is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy [Term] id: DOID:0060944 name: episodic kinesigenic dyskinesia 3 def: "A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13." [url:https\://pubmed.ncbi.nlm.nih.gov/34518509/] xref: MIM:620245 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia [Term] id: DOID:0060945 name: amelogenesis imperfecta type 1K def: "An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21." [url:https\://pubmed.ncbi.nlm.nih.gov/33652941/] subset: DO_rare_slim xref: GARD:5791 xref: MIM:620104 xref: ORDO:88661 is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0060946 name: Ullrich congenital muscular dystrophy 1A def: "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22." [url:https\://pubmed.ncbi.nlm.nih.gov/23622361/] xref: MIM:254090 is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy [Term] id: DOID:0060947 name: autosomal recessive intellectual developmental disorder 82 def: "An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12." [url:https\://pubmed.ncbi.nlm.nih.gov/37226891/] xref: MIM:620779 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0060948 name: Ullrich congenital muscular dystrophy 2 def: "An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q." [url:https\://pubmed.ncbi.nlm.nih.gov/24334604/] subset: DO_rare_slim xref: GARD:4769 xref: MIM:616470 xref: ORDO:75840 is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy [Term] id: DOID:0060949 name: 3-hydroxyisobutryl-CoA hydrolase deficiency def: "An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32." [url:https\://pubmed.ncbi.nlm.nih.gov/24299452/] subset: DO_rare_slim synonym: "HIBCH deficiency" EXACT [] synonym: "Methacrylic aciduria" EXACT [] synonym: "Valine metabolic defect" EXACT [] xref: GARD:13202 xref: MIM:250620 xref: ORDO:88639 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060950 name: hypervalinemia and hyperleucine-isoleucinemia def: "An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/25653144/] synonym: "branched-chain aminotransferase 2 deficiency" EXACT [] xref: MIM:618850 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060951 name: polycystic kidney disease 6 def: "An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27." [url:https\://pubmed.ncbi.nlm.nih.gov/29706351/] xref: MIM:618061 is_a: DOID:898 ! autosomal dominant polycystic kidney disease [Term] id: DOID:0060952 name: polycystic kidney disease 7 def: "A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13." [url:https\://pubmed.ncbi.nlm.nih.gov/35896117/] xref: MIM:620056 is_a: DOID:898 ! autosomal dominant polycystic kidney disease [Term] id: DOID:0060953 name: ZTTK syndrome def: "A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22." [url:https\://pubmed.ncbi.nlm.nih.gov/27545680/] subset: DO_rare_slim synonym: "Zhu-Tokita-Takenouchi-Kim syndrome" EXACT [] synonym: "ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME" EXACT [] xref: GARD:13489 xref: MIM:617140 xref: ORDO:500150 xref: UMLS_CUI:C4310696 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060954 name: Holoprosencephaly 13, X-linked def: "A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25." [url:https\://pubmed.ncbi.nlm.nih.gov/31334757/] xref: MIM:301043 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0060955 name: dystonia 35, childhood-onset def: "A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13." [url:https\://pubmed.ncbi.nlm.nih.gov/34542157/] xref: MIM:619921 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0060956 name: dystonia 37, early-onset with striatal lesions def: "A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21." [url:https\://pubmed.ncbi.nlm.nih.gov/36333996/] xref: MIM:620427 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0060957 name: myoclonic dystonia 34 def: "A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22." [url:https\://pubmed.ncbi.nlm.nih.gov/32212350/] xref: MIM:619724 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia [Term] id: DOID:0060958 name: orofaciodigital syndrome XIV def: "An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13." [url:https\://pubmed.ncbi.nlm.nih.gov/24997988/] subset: DO_rare_slim xref: GARD:13655 xref: MIM:615948 xref: ORDO:434179 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060959 name: orofaciodigital syndrome II def: "An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33." [url:https\://pubmed.ncbi.nlm.nih.gov/27530628/] subset: DO_rare_slim synonym: "Mohr syndrome" EXACT [] synonym: "Oral-facial-digital syndrome type 2" EXACT [] xref: GARD:3701 xref: MIM:252100 xref: ORDO:2751 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060960 name: orofaciodigital syndrome XIX def: "An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21." [url:https\://pubmed.ncbi.nlm.nih.gov/36084634/] synonym: "Oral-facial-digital syndrome type XIX" EXACT [] xref: MIM:620107 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060961 name: orofaciodigital syndrome XVIII def: "An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13." [url:https\://pubmed.ncbi.nlm.nih.gov/27060890/] subset: DO_rare_slim synonym: "Oral-facial-digital syndrome type 18" EXACT [] synonym: "Oral-facial-digital syndrome with short stature and brachymesophalangy" EXACT [] synonym: "Orofaciodigital syndrome type 18" EXACT [] xref: MIM:617927 xref: ORDO:508501 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060962 name: orofaciodigital syndrome XX def: "An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11." [url:https\://pubmed.ncbi.nlm.nih.gov/37384395/] xref: MIM:620718 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060963 name: obsolete dystonia, DOPA-responsive def: "A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13." [url:https\://pubmed.ncbi.nlm.nih.gov/17111153/] synonym: "Autosomal dominant Segawa syndrome" EXACT [] synonym: "DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT" EXACT [] synonym: "DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT" EXACT [] synonym: "DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION" EXACT [] synonym: "DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION" EXACT [] synonym: "GTPCH1-deficient dopa-responsive dystonia" EXACT [] synonym: "GTPCH1-deficient DRD" EXACT [] synonym: "Hereditary progressive dystonia with marked diurnal fluctuation" EXACT [] synonym: "HPD with marked diurnal fluctuation" EXACT [] is_obsolete: true replaced_by: DOID:0090043 [Term] id: DOID:0060964 name: Loeys-Dietz syndrome 6 def: "A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21." [url:https\://pubmed.ncbi.nlm.nih.gov/30157302/] xref: MIM:619656 is_a: DOID:0050466 ! Loeys-Dietz syndrome [Term] id: DOID:0060965 name: episodic ataxia type 9 def: "An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23." [url:https\://pubmed.ncbi.nlm.nih.gov/30928199/] xref: MIM:618924 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:963 ! episodic ataxia [Term] id: DOID:0060966 name: dystonia 22, juvenile-onset def: "A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22." [url:https\://pubmed.ncbi.nlm.nih.gov/33539324/] xref: MIM:620453 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0060967 name: dystonia 22, adult-onset def: "A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/33539324/] xref: MIM:620456 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0060968 name: hypotrichosis 15 def: "A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that has_material_basis_in homozygous mutation in the C3ORF52 gene on chromosome 3q13." [url:https\://pubmed.ncbi.nlm.nih.gov/32336749/] xref: MIM:620177 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0060969 name: galactosemia 4 def: "A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22." [url:https\://pubmed.ncbi.nlm.nih.gov/30451973/] subset: DO_rare_slim synonym: "Galactose mutarotase deficiency" EXACT [] synonym: "Galactosemia type 4" EXACT [] synonym: "GALM deficiency" EXACT [] xref: MIM:618881 xref: ORDO:570422 is_a: DOID:9870 ! galactosemia [Term] id: DOID:0060970 name: Cornelia de Lange syndrome 6 def: "A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/16604071/] xref: MIM:620568 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0060971 name: interstitial lung disease 2 def: "An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22." [url:https\://pubmed.ncbi.nlm.nih.gov/32855221/] xref: MIM:178500 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3082 ! interstitial lung disease [Term] id: DOID:0060972 name: renal hypomagnesemia 7, with or without dilated cardiomyopathy def: "A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15." [url:https\://pubmed.ncbi.nlm.nih.gov/34607910/] xref: MIM:620152 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060879 ! primary hypomagnesemia [Term] id: DOID:0060973 name: WHIM syndrome 2 def: "An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35." [url:https\://pubmed.ncbi.nlm.nih.gov/24777453/] synonym: "WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 2" EXACT [] xref: MIM:619407 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0060974 name: autosomal recessive Robinow syndrome 2 def: "A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13." [url:https\://pubmed.ncbi.nlm.nih.gov/29276006/] xref: MIM:618529 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060254 ! Robinow syndrome [Term] id: DOID:0060975 name: polycystic liver disease 2 def: "A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21." [url:https\://pubmed.ncbi.nlm.nih.gov/24886261/] synonym: "POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS" EXACT [] xref: MIM:617004 is_a: DOID:0050770 ! polycystic liver disease [Term] id: DOID:0060976 name: polycystic liver disease 3 def: "A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14." [url:https\://pubmed.ncbi.nlm.nih.gov/28375157/] xref: MIM:617874 is_a: DOID:0050770 ! polycystic liver disease [Term] id: DOID:0060977 name: polycystic liver disease 4 def: "A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13." [url:https\://pubmed.ncbi.nlm.nih.gov/24706814/] xref: MIM:617875 is_a: DOID:0050770 ! polycystic liver disease [Term] id: DOID:0060978 name: Fanconi anemia complementation group W def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23." [url:https\://pubmed.ncbi.nlm.nih.gov/28691929/] xref: MIM:617784 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0060979 name: Fanconi anemia complementation group S def: "A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21." [url:https\://pubmed.ncbi.nlm.nih.gov/29133208/] xref: MIM:617883 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0060980 name: polycystic liver disease 1 def: "A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/24886261/] xref: MIM:174050 is_a: DOID:0050770 ! polycystic liver disease [Term] id: DOID:0060981 name: mosaic variegated aneuploidy syndrome 4 def: "A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23." [url:https\://pubmed.ncbi.nlm.nih.gov/34009673/] synonym: "MVA4" EXACT OMO:0003012 [] xref: MIM:620153 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome [Term] id: DOID:0060982 name: mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition def: "A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22." [url:https\://pubmed.ncbi.nlm.nih.gov/36322655/] xref: MIM:620189 is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome [Term] id: DOID:0060983 name: sitosterolemia 2 def: "An intestinal disease that is characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21." [url:https\://pubmed.ncbi.nlm.nih.gov/11099417/] xref: MIM:618666 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5295 ! intestinal disease [Term] id: DOID:0060984 name: digenic dyskeratosis congenita def: "A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11." [url:https\://pubmed.ncbi.nlm.nih.gov/35931051/] xref: MIM:620040 is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0060985 name: preaxial polydactyly type IV def: "A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14." [url:https\://pubmed.ncbi.nlm.nih.gov/6641002/] synonym: "crossed polydactyly type 1" EXACT [] xref: MIM:174700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1148 ! polydactyly [Term] id: DOID:0060986 name: preaxial polydactyly II def: "A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36." [url:https\://pubmed.ncbi.nlm.nih.gov/8012392/] subset: DO_rare_slim synonym: "polydactyly of a triphalangeal thumb" EXACT [] xref: GARD:5289 xref: MIM:174500 xref: ORDO:93336 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1148 ! polydactyly [Term] id: DOID:0060987 name: preaxial polydactyly I def: "A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13." [url:https\://pubmed.ncbi.nlm.nih.gov/15405667/] subset: DO_rare_slim xref: GARD:4417 xref: MIM:174400 xref: ORDO:93339 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1148 ! polydactyly [Term] id: DOID:0060988 name: pancreatic agenesis 2 def: "A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12." [url:https\://pubmed.ncbi.nlm.nih.gov/24212882/] xref: MIM:615935 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050877 ! pancreatic agenesis [Term] id: DOID:0060989 name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 def: "A syndrome characterized by distinctive facial features including midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal anomalies including patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray that has_material_basis_in heterozygous mutation in the BMP2 gene on chromosome 20p12." [url:https\://pubmed.ncbi.nlm.nih.gov/29198724/] synonym: "SSFSC1" EXACT OMO:0003012 [] xref: MIM:617877 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060990 name: congenital disorder of deglycosylation 2 def: "A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24." [url:https\://pubmed.ncbi.nlm.nih.gov/35045343/] xref: MIM:619775 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060991 ! congenital disorder of deglycosylation [Term] id: DOID:0060991 name: congenital disorder of deglycosylation is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:0060992 name: bent bone dysplasia syndrome 1 def: "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." [url:https\://pubmed.ncbi.nlm.nih.gov/22387015/] xref: MIM:614592 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080005 ! bone remodeling disease [Term] id: DOID:0060993 name: bent bone dysplasia syndrome 2 def: "A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13." [url:https\://pubmed.ncbi.nlm.nih.gov/33242826/] xref: MIM:620076 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080005 ! bone remodeling disease [Term] id: DOID:0060994 name: encephalopathy due to defective mitochondrial and peroxisomal fission 2 def: "A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36." [url:https\://pubmed.ncbi.nlm.nih.gov/26783368/] xref: MIM:617086 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060995 name: autosomal dominant isolated macrothrombocytopenia 2 def: "A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11." [url:https\://pubmed.ncbi.nlm.nih.gov/34704371/] synonym: "MACTHC2" EXACT OMO:0003012 [] xref: MIM:619840 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:0060996 name: poor metabolism of thiopurines 2 def: "A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14." [url:https\://pubmed.ncbi.nlm.nih.gov/26878724/] xref: MIM:616903 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080172 ! poor metabolism of thiopurines [Term] id: DOID:0060997 name: rhabdoid tumor predisposition syndrome 2 def: "A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/24752781/] subset: DO_rare_slim synonym: "RTPS2" EXACT OMO:0003012 [] xref: MIM:613325 is_a: DOID:0070617 ! rhabdoid tumor predisposition syndrome property_value: exactMatch "MIM:613325" xsd:string [Term] id: DOID:0060998 name: striatal degeneration 2 def: "A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27." [url:https\://pubmed.ncbi.nlm.nih.gov/27058447/] xref: MIM:616922 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4752 ! multiple system atrophy [Term] id: DOID:0060999 name: mitochondrial trifunctional protein deficiency 2 def: "A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/12754706/] synonym: "MTPD2" EXACT [] {http://purl.org/dc/elements/1.1/type="OMO:0003012"} xref: MIM:620300 is_a: DOID:0111277 ! mitochondrial trifunctional protein deficiency [Term] id: DOID:0061001 name: glycine encephalopathy 2 def: "A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21." [url:https\://pubmed.ncbi.nlm.nih.gov/8005589/] synonym: "GCE2" EXACT OMO:0003012 [] xref: MIM:620398 is_a: DOID:9268 ! glycine encephalopathy [Term] id: DOID:0061002 name: congenital amegakaryocytic thrombocytopenia 2 def: "A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27." [url:https\://pubmed.ncbi.nlm.nih.gov/28559357/] xref: MIM:620481 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:0061003 name: pancreatic agenesis 1 def: "A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12." [url:https\://pubmed.ncbi.nlm.nih.gov/20009086/] xref: MIM:260370 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050877 ! pancreatic agenesis [Term] id: DOID:0061004 name: poor metabolism of thiopurines 1 def: "A poor metabolism of thiopurines that has_material_basis_in homozygous or compound heterozygous mutation in the TPMT gene on chromosome 6p22." [url:https\://pubmed.ncbi.nlm.nih.gov/2758725/] xref: MIM:610460 is_a: DOID:0080172 ! poor metabolism of thiopurines [Term] id: DOID:0070000 name: 3-methylglutaconic aciduria type 8 def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27208207, url:https\://www.ncbi.nlm.nih.gov/pubmed/27696117] synonym: "3-methylglutaconic aciduria type VIII, MGCA8" EXACT [] xref: MIM:617248 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria [Term] id: DOID:0070001 name: obsolete neoplastic disease def: "A disease of cellular proliferation that results in an abnormal mass of tissue." [url:http\://en.wikipedia.org/wiki/Neoplasm] is_obsolete: true [Term] id: DOID:0070002 name: 3-methylglutaconic aciduria type 9 def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27573165] synonym: "3-methylglutaconic acuduria type IX, MGCA9" EXACT [] xref: MIM:617698 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria [Term] id: DOID:0070003 name: blastoma def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells." [url:https\://en.wikipedia.org/wiki/Blastoma] is_a: DOID:0050687 ! cell type cancer [Term] id: DOID:0070004 name: myeloid neoplasm def: "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages." [url:http\://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf, url:https\://www.ncbi.nlm.nih.gov/pubmed/19357394] subset: DO_cancer_slim is_a: DOID:4960 ! bone marrow cancer [Term] id: DOID:0070005 name: Seckel syndrome 9 def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26595769] synonym: "SCKL9" EXACT OMO:0003012 [] xref: MIM:616777 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070006 name: Seckel syndrome 6 def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21983783] synonym: "SCKL6" EXACT OMO:0003012 [] xref: MIM:614728 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070007 name: Seckel syndrome 1 def: "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12640452] synonym: "microcephalic primordial dwarfism I" EXACT [] synonym: "SCKL1" EXACT OMO:0003012 [] xref: MESH:C537533 xref: MIM:210600 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070008 name: Seckel syndrome 10 def: "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25105364] synonym: "SCKL10" EXACT OMO:0003012 [] xref: MIM:617253 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070009 name: Seckel syndrome 8 def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24389050] synonym: "SCKL8" EXACT OMO:0003012 [] xref: MIM:615807 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070010 name: Seckel syndrome 4 def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20522431] synonym: "SCKL4" EXACT OMO:0003012 [] xref: MIM:613676 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070011 name: Seckel syndrome 7 def: "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22933543] synonym: "SCKL7" EXACT OMO:0003012 [] xref: MIM:614851 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070012 name: Seckel syndrome 5 def: "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21131973] synonym: "SCKL5" EXACT OMO:0003012 [] xref: MIM:613823 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070013 name: Seckel syndrome 2 def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21998596] synonym: "microcephalic primordial dwarfism 2" EXACT [] synonym: "SCKL2" EXACT OMO:0003012 [] synonym: "Seckel-type dwarfism 2" EXACT [] xref: MESH:C537534 xref: MIM:606744 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070014 name: autosomal dominant dyskeratosis congenita 1 def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11574891] synonym: "DKCA1" EXACT OMO:0003012 [] synonym: "Dyskeratosis Congenita, Scoggins Type" EXACT [] xref: MIM:127550 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0070015 name: autosomal recessive dyskeratosis congenita 1 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17507419] synonym: "DKCB1" EXACT OMO:0003012 [] xref: MIM:224230 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0070016 name: autosomal dominant dyskeratosis congenita 2 def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16247010] synonym: "DKCA2" EXACT OMO:0003012 [] xref: MIM:613989 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0070017 name: autosomal recessive dyskeratosis congenita 2 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18523010] synonym: "DKCB2" EXACT OMO:0003012 [] xref: MIM:613987 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0070018 name: autosomal dominant dyskeratosis congenita 3 def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18252230] synonym: "DKCA3" EXACT OMO:0003012 [] xref: MIM:613990 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0070019 name: autosomal recessive dyskeratosis congenita 3 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21205863] synonym: "DKCB3" EXACT OMO:0003012 [] xref: MIM:613988 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0070020 name: autosomal dominant dyskeratosis congenita 4 def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23329068] synonym: "DKCA4" EXACT OMO:0003012 [] is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0070021 name: autosomal recessive dyskeratosis congenita 4 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17785587] synonym: "DKCB4" EXACT OMO:0003012 [] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0070022 name: autosomal recessive dyskeratosis congenita 5 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19461895] synonym: "DKCB5" EXACT OMO:0003012 [] xref: MIM:615190 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0070023 name: autosomal dominant dyskeratosis congenita 6 def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25205116] synonym: "DKCA6" EXACT OMO:0003012 [] xref: MIM:616553 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0070024 name: autosomal recessive dyskeratosis congenita 6 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25893599] synonym: "DKCB6" EXACT OMO:0003012 [] xref: MIM:616353 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0070025 name: X-linked dyskeratosis congenita def: "A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9590285] synonym: "DKCX" EXACT OMO:0003012 [] synonym: "Zinsser-Cole-Engman syndrome" EXACT [] xref: MIM:305000 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0070026 name: Revesz syndrome def: "A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18252230] subset: DO_rare_slim synonym: "DKCA5" EXACT OMO:0003012 [] synonym: "Dyskeratosis Congenita, Autosomal Dominant 5" EXACT [] synonym: "exudative retinopathy with bone marrow failure" EXACT [] xref: GARD:4695 xref: MIM:268130 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0070027 name: CST3-related cerebral amyloid angiopathy def: "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2900981] synonym: "Amyloidosis VI" EXACT [] synonym: "Amyloidosis, Cerebroarterial, Icelandic Type" EXACT [] synonym: "Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant" EXACT [] synonym: "HCHWA" EXACT OMO:0003012 [] synonym: "Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant" EXACT [] xref: MIM:105150 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9246 ! cerebral amyloid angiopathy [Term] id: DOID:0070028 name: APP-related cerebral amyloid angiopathy def: "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2111584] synonym: "Amyloidosis, Cerebroarterial, App-Related" EXACT [] synonym: "Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant" EXACT [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Arctic Variant" EXACT [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Dutch Variant" EXACT [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Flemish Variant" EXACT [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Iowa Variant" EXACT [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Italian Variant" EXACT [] synonym: "HCHWAD" EXACT OMO:0003012 [] xref: MIM:605714 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9246 ! cerebral amyloid angiopathy [Term] id: DOID:0070029 name: ITM2B-related cerebral amyloid angiopathy 1 def: "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10391242, url:https\://www.ncbi.nlm.nih.gov/pubmed/7086452] subset: DO_rare_slim synonym: "Cerebral Amyloid Angiopathy, British Type" EXACT [] synonym: "Familial British Dementia" EXACT [] synonym: "FBD" EXACT OMO:0003012 [] synonym: "Presenile Dementia with Spastic Ataxia" EXACT [] xref: GARD:8344 xref: MIM:176500 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9246 ! cerebral amyloid angiopathy [Term] id: DOID:0070030 name: ITM2B-related cerebral amyloid angiopathy 2 def: "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10781099] synonym: "Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis" EXACT [] synonym: "Familial Danish Dementia" EXACT [] synonym: "FDD" EXACT OMO:0003012 [] synonym: "Heredopathia Ophthalmootoencephalica" EXACT [] synonym: "HOOE" EXACT OMO:0003012 [] xref: MIM:117300 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9246 ! cerebral amyloid angiopathy [Term] id: DOID:0070031 name: autosomal dominant intellectual developmental disorder 1 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21981781] synonym: "autosomal dominant mental retardation 1" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 1" EXACT [] synonym: "MRD1" EXACT OMO:0003012 [] xref: MIM:156200 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070032 name: autosomal dominant intellectual developmental disorder 2 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18060736] synonym: "autosomal dominant mental retardation 2" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 2" EXACT [] synonym: "MRD2" EXACT OMO:0003012 [] xref: MIM:614113 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070033 name: autosomal dominant intellectual developmental disorder 3 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19012874] synonym: "autosomal dominant mental retardation 3" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 3" EXACT [] synonym: "MRD3" EXACT OMO:0003012 [] xref: MIM:612580 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070034 name: autosomal dominant intellectual developmental disorder 4 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19012874] synonym: "autosomal dominant mental retardation 4" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 4" EXACT [] synonym: "MRD4" EXACT OMO:0003012 [] xref: MIM:612581 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070035 name: autosomal dominant intellectual developmental disorder 5 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19196676] synonym: "autosomal dominant mental retardation 5" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 5" EXACT [] synonym: "MRD5" EXACT OMO:0003012 [] xref: MIM:612621 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070036 name: autosomal dominant intellectual developmental disorder 6 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20890276] synonym: "autosomal dominant mental retardation 6" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 6" EXACT [] synonym: "MRD6" EXACT OMO:0003012 [] xref: MIM:613970 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070037 name: autosomal dominant intellectual developmental disorder 7 def: "An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13." [url:https\://www.ncbi.nlm.nih.gov/books/NBK333438/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23160955] synonym: "autosomal dominant mental retardation 7" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 7" EXACT [] synonym: "DYRK1A syndrome" EXACT [] synonym: "MRD7" EXACT OMO:0003012 [] xref: MIM:614104 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070038 name: autosomal dominant intellectual developmental disorder 8 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21376300] synonym: "autosomal dominant mental retardation 8" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 8" EXACT [] synonym: "MRD8" EXACT OMO:0003012 [] xref: MIM:614254 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070039 name: NESCAV syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21376300] subset: NCIthesaurus synonym: "autosomal dominant intellectual disability 9" EXACT [] synonym: "autosomal dominant mental retardation 9" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 9" EXACT [] synonym: "MRD9" EXACT OMO:0003012 [] synonym: "NESCAVS" EXACT OMO:0003012 [] synonym: "neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment" EXACT [] xref: MIM:614255 xref: NCI:C133742 xref: UMLS_CUI:C3280283 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070040 name: autosomal dominant intellectual developmental disorder 10 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21376300] synonym: "autosomal dominant mental retardation 10" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 10" EXACT [] synonym: "MRD10" EXACT OMO:0003012 [] xref: MIM:614256 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070041 name: autosomal dominant intellectual developmental disorder 11 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21376300] synonym: "autosomal dominant mental retardation 11" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 11" EXACT [] synonym: "MRD11" EXACT OMO:0003012 [] xref: MIM:614257 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070042 name: Coffin-Siris syndrome 1 def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22405089] synonym: "autosomal dominant mental retardation 12" EXACT [] synonym: "CSS1" EXACT OMO:0003012 [] synonym: "fifth digit syndrome" EXACT [] synonym: "MRD12" EXACT OMO:0003012 [] xref: MIM:135900 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0070043 name: autosomal dominant intellectual developmental disorder 13 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21076407] synonym: "autosomal dominant mental retardation 13" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 13" EXACT [] synonym: "mental retardation, autosomal dominant 13, with neuronal migration defects" EXACT [] synonym: "MRD13" EXACT OMO:0003012 [] xref: MIM:614563 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070044 name: Coffin-Siris syndrome 2 def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22426308] synonym: "autosomal dominant mental retardation 14" EXACT [] synonym: "CSS2" EXACT OMO:0003012 [] synonym: "MRD14" EXACT OMO:0003012 [] xref: MIM:614607 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0070045 name: Coffin-Siris syndrome 3 def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22426308] synonym: "autosomal dominant mental retardation 15" EXACT [] synonym: "CSS3" EXACT OMO:0003012 [] synonym: "MRD15" EXACT OMO:0003012 [] xref: MIM:614608 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0070046 name: Coffin-Siris syndrome 4 def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22426308] synonym: "autosomal dominant mental retardation 16" EXACT [] synonym: "CSS4" EXACT OMO:0003012 [] synonym: "MRD16" EXACT OMO:0003012 [] xref: MIM:614609 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0070047 name: Schuurs-Hoeijmakers Syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26842493] synonym: "autosomal dominant mental retardation 17" EXACT [] synonym: "MRD17" EXACT OMO:0003012 [] synonym: "SHMS" EXACT OMO:0003012 [] xref: MIM:615009 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070048 name: GAND syndrome def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/31949314/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23033978] synonym: "autosomal dominant intellectual developmental disorder 18" EXACT [] synonym: "autosomal dominant mental retardation 18" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 18" EXACT [] synonym: "MRD18" EXACT OMO:0003012 [] xref: MIM:615074 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070049 name: autosomal dominant intellectual developmental disorder 19 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23033978] synonym: "autosomal dominant mental retardation 19" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 19" EXACT [] synonym: "MRD19" EXACT OMO:0003012 [] xref: MIM:615075 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070050 name: neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20513142] synonym: "autosomal dominant mental retardation 20" EXACT [] synonym: "mental retardation, autosomal dominant 20" EXACT [] synonym: "MRD20" EXACT OMO:0003012 [] xref: MIM:613443 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070051 name: autosomal dominant intellectual developmental disorder 21 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23746550] synonym: "autosomal dominant mental retardation 21" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 21" EXACT [] synonym: "MRD21" EXACT OMO:0003012 [] xref: MIM:615502 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070052 name: autosomal dominant intellectual developmental disorder 22 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24193349] synonym: "autosomal dominant mental retardation 22" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 22" EXACT [] synonym: "MRD22" EXACT OMO:0003012 [] xref: MIM:612337 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070053 name: autosomal dominant intellectual developmental disorder 23 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24680889] synonym: "autosomal dominant mental retardation 23" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 23" EXACT [] synonym: "MRD23" EXACT OMO:0003012 [] xref: MIM:615761 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070054 name: Vulto-van Silfout-de Vries syndrome def: "An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5." [url:https\://pubmed.ncbi.nlm.nih.gov/30923367/, url:https\://www.ncbi.nlm.nih.gov/pubmed/21076407] synonym: "autosomal dominant mental retardation 24" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 24" EXACT [] synonym: "IDDISBAS" EXACT OMO:0003012 [] synonym: "intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures" EXACT [] synonym: "MRD24" EXACT OMO:0003012 [] synonym: "VSVS" EXACT OMO:0003012 [] xref: MIM:615828 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070055 name: Xia-Gibbs Syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24791903] subset: DO_rare_slim synonym: "autosomal dominant mental retardation 25" EXACT [] synonym: "MRD25" EXACT OMO:0003012 [] xref: GARD:13409 xref: MIM:615829 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070056 name: autosomal dominant intellectual developmental disorder 26 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23332918] synonym: "autosomal dominant mental retardation 26" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 26" EXACT [] synonym: "MRD26" EXACT OMO:0003012 [] xref: MIM:615834 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070057 name: Coffin-Siris syndrome 9 def: "An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24886874] synonym: "autosomal dominant mental retardation 27" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 27" EXACT [] synonym: "MRD27" EXACT OMO:0003012 [] xref: MIM:615866 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0070058 name: Helsmoortel-Van Der Aa Syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24531329] synonym: "autosomal dominant mental retardation 28" EXACT [] synonym: "HVDAS" EXACT OMO:0003012 [] synonym: "MRD28" EXACT OMO:0003012 [] xref: MIM:615873 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070059 name: autosomal dominant intellectual developmental disorder 29 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25217958] synonym: "autosomal dominant mental retardation 29" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 29" EXACT [] synonym: "MRD29" EXACT OMO:0003012 [] xref: MIM:616078 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070060 name: autosomal dominant intellectual developmental disorder 30 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25217958] synonym: "autosomal dominant mental retardation 30" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 30" EXACT [] synonym: "MRD30" EXACT OMO:0003012 [] xref: MIM:616083 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070061 name: autosomal dominant intellectual developmental disorder 31 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25439098] synonym: "autosomal dominant mental retardation 31" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 31" EXACT [] synonym: "MRD31" EXACT OMO:0003012 [] xref: MIM:616158 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070062 name: Arboleda-Tham syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25728775] subset: DO_rare_slim synonym: "ARTHS" EXACT OMO:0003012 [] synonym: "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome" EXACT [] synonym: "autosomal dominant mental retardation 32" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 32" EXACT [] synonym: "MRD32" EXACT OMO:0003012 [] xref: MIM:616268 xref: ORDO:457193 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070063 name: autosomal dominant intellectual developmental disorder 33 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23832105] synonym: "autosomal dominant mental retardation 33" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 33" EXACT [] synonym: "MRD33" EXACT OMO:0003012 [] xref: MIM:616311 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070064 name: autosomal dominant intellectual developmental disorder 34 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25533962] synonym: "autosomal dominant mental retardation 34" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 34" EXACT [] synonym: "MRD34" EXACT OMO:0003012 [] xref: MIM:616351 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070065 name: autosomal dominant intellectual developmental disorder 35 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25533962] synonym: "autosomal dominant mental retardation 35" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 35" EXACT [] synonym: "MRD35" EXACT OMO:0003012 [] xref: MIM:616355 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070066 name: autosomal dominant intellectual developmental disorder 36 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25533962] synonym: "autosomal dominant mental retardation 36" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 36" EXACT [] synonym: "MRD36" EXACT OMO:0003012 [] xref: MIM:616362 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070067 name: White-Sutton syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25533962] synonym: "autosomal dominant mental retardation 37" EXACT [] synonym: "MRD37" EXACT OMO:0003012 [] synonym: "WHSUS" EXACT OMO:0003012 [] xref: MIM:616364 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070068 name: autosomal dominant intellectual developmental disorder 38 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24697219] synonym: "autosomal dominant mental retardation 38" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 38" EXACT [] synonym: "MRD38" EXACT OMO:0003012 [] synonym: "PRELDS" EXACT OMO:0003012 [] synonym: "psychomotor retardation, epilepsy, and language disability syndrome" EXACT [] xref: MIM:616393 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070069 name: autosomal dominant intellectual developmental disorder 39 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23033978] synonym: "autosomal dominant mental retardation 39" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 39" EXACT [] synonym: "MRD39" EXACT OMO:0003012 [] xref: MIM:616521 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070070 name: autosomal dominant intellectual developmental disorder 40 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25533962] synonym: "autosomal dominant mental retardation 40" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 40" EXACT [] synonym: "MRD40" EXACT OMO:0003012 [] xref: MIM:616579 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070071 name: autosomal dominant intellectual developmental disorder 41 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25102098] synonym: "autosomal dominant mental retardation 41" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 41" EXACT [] synonym: "MRD41" EXACT OMO:0003012 [] xref: MIM:616944 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070072 name: autosomal dominant intellectual developmental disorder 42 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27108799] synonym: "autosomal dominant mental retardation 42" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 42" EXACT [] synonym: "MRD42" EXACT OMO:0003012 [] xref: MIM:616973 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070073 name: autosomal dominant intellectual developmental disorder 43 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27003583] synonym: "autosomal dominant mental retardation 43" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 43" EXACT [] synonym: "MRD43" EXACT OMO:0003012 [] xref: MIM:616977 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070074 name: autosomal dominant intellectual developmental disorder 44 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26721934] synonym: "autosomal dominant intellectual developmental disorder 44 with microcephaly" EXACT [] synonym: "autosomal dominant mental retardation 44" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 44" EXACT [] synonym: "MRD44" EXACT OMO:0003012 [] xref: MIM:617061 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070075 name: obsolete Kleefstra Syndrome def: "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the EHMT1 gene on chromosome 9q34.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16826528] is_obsolete: true [Term] id: DOID:0070076 name: obsolete Koolen-De Vries syndrome def: "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the KANSL1 gene on chromosome 17q21.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19447831] synonym: "chromosome 17q21.31 deletion syndrome" EXACT [] synonym: "microdeletion 17q21.31 syndrome" EXACT [] is_obsolete: true [Term] id: DOID:0070077 name: schizophrenia 1 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14699422] synonym: "SCZD1" EXACT OMO:0003012 [] xref: MIM:181510 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070078 name: schizophrenia 2 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7490076] synonym: "SCZD2" EXACT OMO:0003012 [] xref: MIM:603342 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070079 name: schizophrenia 3 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26814963] synonym: "SCZD3" EXACT OMO:0003012 [] xref: MIM:600511 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070080 name: schizophrenia 4 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12217952] synonym: "SCZD4" EXACT OMO:0003012 [] xref: MIM:600850 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070081 name: schizophrenia 5 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15329799] synonym: "SCZD5" EXACT OMO:0003012 [] xref: MIM:603175 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070082 name: schizophrenia 6 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9731535] synonym: "SCZD6" EXACT OMO:0003012 [] xref: MIM:603013 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070083 name: schizophrenia 7 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9731535] synonym: "SCZD7" EXACT OMO:0003012 [] xref: MIM:603176 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070084 name: schizophrenia 8 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD8 gene on chromosome 18p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9246509] synonym: "SCZD8" EXACT OMO:0003012 [] xref: MIM:603206 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070085 name: schizophrenia 9 def: "A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15197400] synonym: "SCZD9" EXACT OMO:0003012 [] xref: MIM:604906 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070086 name: schizophrenia 10 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11001582] synonym: "SCZD10" EXACT OMO:0003012 [] xref: MIM:605419 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070087 name: schizophrenia 11 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12929083] synonym: "SCZD11" EXACT OMO:0003012 [] xref: MIM:608078 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070088 name: schizophrenia 12 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14750073] synonym: "SCZD12" EXACT OMO:0003012 [] xref: MIM:608543 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070089 name: schizophrenia 13 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 15q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9012828] synonym: "SCZD13" EXACT OMO:0003012 [] xref: MIM:613025 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070090 name: schizophrenia 14 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18677311] synonym: "SCZD14" EXACT OMO:0003012 [] xref: MIM:612361 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070091 name: schizophrenia 15 def: "A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20385823] synonym: "SCZD15" EXACT OMO:0003012 [] xref: MIM:613950 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070092 name: schizophrenia 16 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21346763] synonym: "SCZD16" EXACT OMO:0003012 [] xref: MIM:613959 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070093 name: schizophrenia 18 def: "A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23341099] synonym: "Chromosome 7q36.3 Duplication Syndrome, 362-Kb" EXACT [] synonym: "SCZD18" EXACT OMO:0003012 [] xref: MIM:615232 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070094 name: oculocutaneous albinism type IA def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8477259] synonym: "OCA1A" EXACT OMO:0003012 [] synonym: "Oculocutaneous Albinism, Tyrosinase-Negative" EXACT [] xref: MIM:203100 is_a: DOID:0050632 ! oculocutaneous albinism [Term] id: DOID:0070095 name: oculocutaneous albinism type IB def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18925668] synonym: "Albinism, Yellow Mutant Type" EXACT [] synonym: "OCA1B" EXACT OMO:0003012 [] xref: MESH:C537729 xref: MIM:606952 is_a: DOID:0050632 ! oculocutaneous albinism is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0070096 name: oculocutaneous albinism type II def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18680187] subset: DO_rare_slim synonym: "OCA2" EXACT OMO:0003012 [] synonym: "Oculocutaneous Albinism, Tyrosinase-Positive" EXACT [] xref: GARD:4038 xref: MESH:C537730 xref: MIM:203200 is_a: DOID:0050632 ! oculocutaneous albinism [Term] id: DOID:0070097 name: oculocutaneous albinism type III def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9345097] subset: DO_rare_slim synonym: "OCA3" EXACT OMO:0003012 [] synonym: "Rufous Oculocutaneous Albinism" EXACT [] xref: GARD:4039 xref: MIM:203290 is_a: DOID:0050632 ! oculocutaneous albinism [Term] id: DOID:0070098 name: oculocutaneous albinism type IV def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14722913] synonym: "OCA4" EXACT OMO:0003012 [] xref: MIM:606574 is_a: DOID:0050632 ! oculocutaneous albinism [Term] id: DOID:0070099 name: oculocutaneous albinism type V def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23050561] synonym: "OCA5" EXACT OMO:0003012 [] xref: MIM:615312 is_a: DOID:0050632 ! oculocutaneous albinism [Term] id: DOID:0070100 name: oculocutaneous albinism type VII def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23395477] synonym: "OCA7" EXACT OMO:0003012 [] xref: MIM:615179 is_a: DOID:0050632 ! oculocutaneous albinism [Term] id: DOID:0070101 name: obsolete Noonan syndrome 1 def: "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the PTPN11 gene on chromosome 12q24.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11704759] is_obsolete: true [Term] id: DOID:0070102 name: obsolete Noonan syndrome 2 def: "A Noonan syndrome that has_material_basis_in an autosomal recessive mutation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/5782826] is_obsolete: true [Term] id: DOID:0070103 name: obsolete Noonan syndrome 3 def: "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the KRAS gene on chromosome 12p12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16474405] is_obsolete: true [Term] id: DOID:0070104 name: obsolete Noonan syndrome 4 def: "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS1 gene on chromosome 2p22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17143285] is_obsolete: true [Term] id: DOID:0070105 name: obsolete Noonan syndrome 5 def: "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RAF1 gene on chromosome 3p25.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17603483] is_obsolete: true [Term] id: DOID:0070106 name: obsolete Noonan syndrome 6 def: "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the NRAS gene on chromosome 1p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19966803] is_obsolete: true [Term] id: DOID:0070107 name: obsolete Noonan syndrome 7 def: "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the BRAF gene on chromosome 7q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19206169] is_obsolete: true [Term] id: DOID:0070108 name: obsolete Noonan syndrome 8 def: "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RIT1 gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23791108] is_obsolete: true [Term] id: DOID:0070109 name: obsolete Noonan syndrome 9 def: "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS2 gene on chromosome 14q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25795793] synonym: "NS9" EXACT [] is_obsolete: true [Term] id: DOID:0070110 name: obsolete Noonan syndrome 10 def: "A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the LZTR1 gene on chromosome 22q11.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25795793] is_obsolete: true [Term] id: DOID:0070111 name: Niemann-Pick disease type A def: "A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4." [url:https\://www.ncbi.nlm.nih.gov/pubmed/13696518, url:https\://www.ncbi.nlm.nih.gov/pubmed/19405096] subset: DO_rare_slim xref: GARD:7206 xref: ICD10CM:E75.2 xref: MIM:257200 is_a: DOID:14504 ! Niemann-Pick disease [Term] id: DOID:0070112 name: Niemann-Pick disease type B def: "A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12369017, url:https\://www.ncbi.nlm.nih.gov/pubmed/13696518] subset: DO_rare_slim xref: GARD:10729 xref: ICD10CM:E75.2 xref: MIM:607616 is_a: DOID:14504 ! Niemann-Pick disease [Term] id: DOID:0070113 name: Niemann-Pick disease type C1 def: "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11182931] subset: DO_rare_slim synonym: "NPC1" EXACT OMO:0003012 [] xref: GARD:7207 xref: ICD10CM:E75.2 xref: MIM:257220 is_a: DOID:14504 ! Niemann-Pick disease [Term] id: DOID:0070114 name: Niemann-Pick disease type C2 def: "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17470133] subset: DO_rare_slim synonym: "NPC2" EXACT OMO:0003012 [] xref: GARD:3992 xref: ICD10CM:E75.2 xref: MIM:607625 is_a: DOID:14504 ! Niemann-Pick disease [Term] id: DOID:0070115 name: Meckel syndrome 1 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16415886] synonym: "Meckel-Gruber syndrome, type 1" EXACT [] synonym: "MKS1" EXACT OMO:0003012 [] xref: ICD10CM:Q61.9 xref: MIM:249000 is_a: DOID:0050778 ! Meckel syndrome [Term] id: DOID:0070116 name: Meckel syndrome 2 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20512146] synonym: "Meckel-Gruber syndrome, type 2" EXACT [] synonym: "MKS2" EXACT OMO:0003012 [] xref: ICD10CM:Q61.9 xref: MIM:603194 is_a: DOID:0050778 ! Meckel syndrome [Term] id: DOID:0070117 name: Meckel syndrome 3 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16415887] synonym: "Meckel-Gruber syndrome, type 3" EXACT [] synonym: "MKS3" EXACT OMO:0003012 [] xref: ICD10CM:Q61.9 xref: MIM:607361 is_a: DOID:0050778 ! Meckel syndrome [Term] id: DOID:0070118 name: Meckel syndrome 4 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17564974] synonym: "Meckel-Gruber syndrome, type 4" EXACT [] synonym: "MKS4" EXACT OMO:0003012 [] xref: ICD10CM:Q61.9 xref: MIM:611134 is_a: DOID:0050778 ! Meckel syndrome [Term] id: DOID:0070119 name: Meckel syndrome 5 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17558409] synonym: "Meckel-Gruber syndrome, type 5" EXACT [] synonym: "MKS5" EXACT OMO:0003012 [] xref: ICD10CM:Q61.9 xref: MIM:611561 is_a: DOID:0050778 ! Meckel syndrome [Term] id: DOID:0070120 name: Meckel syndrome 6 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18513680] synonym: "Meckel-Gruber syndrome, type 6" EXACT [] synonym: "MKS6" EXACT OMO:0003012 [] xref: ICD10CM:Q61.9 xref: MIM:612284 is_a: DOID:0050778 ! Meckel syndrome [Term] id: DOID:0070121 name: Meckel syndrome 7 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18371931] subset: DO_rare_slim synonym: "Meckel-Gruber syndrome, type 7" EXACT [] synonym: "MKS7" EXACT OMO:0003012 [] xref: MESH:C537756 xref: MIM:267010 xref: ORDO:3032 xref: SNOMEDCT_US_2023_03_01:773737004 xref: UMLS_CUI:C2673885 is_a: DOID:0050778 ! Meckel syndrome [Term] id: DOID:0070122 name: Meckel syndrome 8 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21462283] subset: DO_rare_slim synonym: "Meckel-Gruber syndrome, type 8" EXACT [] synonym: "MKS8" EXACT OMO:0003012 [] xref: ICD10CM:Q61.9 xref: MIM:613885 xref: ORDO:90674 is_a: DOID:0050778 ! Meckel syndrome [Term] id: DOID:0070123 name: congenital nongoitrous hypothyroidism 4 def: "A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2792087] synonym: "CHNG4" EXACT OMO:0003012 [] synonym: "isolated thyrotropin deficiency" EXACT [] xref: ICD10CM:E03.1 xref: MIM:275100 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070124 name: congenital nongoitrous hypothyroidism 2 def: "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9590296] synonym: "CHNG2" EXACT OMO:0003012 [] synonym: "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia" EXACT [] xref: ICD10CM:E03.1 xref: MIM:218700 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070125 name: congenital nongoitrous hypothyroidism 5 def: "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16418214] subset: DO_rare_slim synonym: "CHNG5" EXACT OMO:0003012 [] xref: ICD10CM:E03.1 xref: MIM:225250 xref: ORDO:90673 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070126 name: congenital nongoitrous hypothyroidism 1 def: "A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8954020] synonym: "CHNG1" EXACT OMO:0003012 [] synonym: "TSH resistance" EXACT [] xref: ICD10CM:E03.1 xref: MIM:275200 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070127 name: congenital nongoitrous hypothyroidism 3 def: "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in variation in the chromosome region 15q25.3-q26.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15870119, url:https\://www.ncbi.nlm.nih.gov/pubmed/8976668] synonym: "CHNG3" EXACT OMO:0003012 [] xref: ICD10CM:E03.1 xref: MIM:609893 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070128 name: congenital nongoitrous hypothyroidism 6 def: "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22168587] synonym: "CHNG6" EXACT OMO:0003012 [] xref: ICD10CM:E03.1 xref: MIM:614450 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070129 name: autosomal recessive cutis laxa type IID def: "An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28065471] synonym: "ARCL2D" EXACT OMO:0003012 [] xref: ICD10CM:Q82.8 xref: MIM:617403 is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type [Term] id: DOID:0070130 name: autosomal dominant cutis laxa 1 def: "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9580666, url:https\://www.ncbi.nlm.nih.gov/pubmed/9873040] synonym: "ADCL1" EXACT OMO:0003012 [] xref: ICD10CM:Q82.8 xref: MIM:123700 is_a: DOID:0070142 ! autosomal dominant cutis laxa [Term] id: DOID:0070131 name: autosomal dominant cutis laxa 3 def: "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26320891] synonym: "ADCL3" EXACT OMO:0003012 [] xref: ICD10CM:Q82.8 xref: MIM:616603 is_a: DOID:0070142 ! autosomal dominant cutis laxa [Term] id: DOID:0070132 name: autosomal recessive cutis laxa type IIIA def: "A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11092761] subset: DO_rare_slim synonym: "ARCL3A" EXACT OMO:0003012 [] synonym: "De Barsy syndrome A" EXACT [] xref: ICD10CM:Q82.8 xref: MIM:219150 xref: ORDO:35664 is_a: DOID:0070143 ! autosomal recessive cutis laxa type III [Term] id: DOID:0070133 name: autosomal recessive cutis laxa type IB def: "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16685658, url:https\://www.ncbi.nlm.nih.gov/pubmed/19664000] synonym: "ARCL1B" EXACT OMO:0003012 [] xref: ICD10CM:Q82.8 xref: MIM:614437 is_a: DOID:0070144 ! autosomal recessive cutis laxa type I [Term] id: DOID:0070134 name: autosomal recessive cutis laxa type IIA def: "An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18157129, url:https\://www.ncbi.nlm.nih.gov/pubmed/19401719] synonym: "ARCL2A" EXACT OMO:0003012 [] xref: ICD10CM:Q82.8 xref: MIM:219200 is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type [Term] id: DOID:0070135 name: autosomal recessive cutis laxa type IA def: "An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12189163] synonym: "ARCL1A" EXACT OMO:0003012 [] xref: ICD10CM:Q82.8 xref: MIM:219100 is_a: DOID:0070144 ! autosomal recessive cutis laxa type I [Term] id: DOID:0070136 name: autosomal dominant cutis laxa 2 def: "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12618961] synonym: "ADCL2" EXACT OMO:0003012 [] xref: ICD10CM:Q82.8 xref: MIM:614434 is_a: DOID:0070142 ! autosomal dominant cutis laxa [Term] id: DOID:0070137 name: autosomal recessive cutis laxa type IIB def: "A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19576563] subset: DO_rare_slim synonym: "ARCL2, progeroid type" EXACT [] synonym: "ARCL2B" EXACT OMO:0003012 [] xref: ICD10CM:Q82.8 xref: MIM:612940 xref: ORDO:357064 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3144 ! cutis laxa [Term] id: DOID:0070138 name: autosomal recessive cutis laxa type IIIB def: "An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19648921] synonym: "ARCL3B" EXACT OMO:0003012 [] synonym: "De Barsy syndrome B" EXACT [] xref: ICD10CM:Q82.8 xref: MIM:614438 is_a: DOID:0070143 ! autosomal recessive cutis laxa type III [Term] id: DOID:0070139 name: autosomal recessive cutis laxa type IC def: "A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19836010] subset: DO_rare_slim synonym: "ARCL1C" EXACT OMO:0003012 [] synonym: "autosomal recessive cutis laxa type 1C" EXACT [] xref: MESH:C567716 xref: MIM:613177 xref: ORDO:221145 xref: SNOMEDCT_US_2023_03_01:784349004 xref: UMLS_CUI:C2750804 is_a: DOID:0070144 ! autosomal recessive cutis laxa type I [Term] id: DOID:0070140 name: autosomal recessive cutis laxa type IIC def: "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28065471] xref: ICD10CM:Q82.8 xref: MIM:617402 is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type [Term] id: DOID:0070141 name: autosomal recessive cutis laxa type II classic type def: "A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28065471] subset: DO_rare_slim synonym: "ARCL2, classic type" EXACT [] synonym: "ARCL2, Debre type" EXACT [] xref: ICD10CM:Q82.8 xref: ORDO:357074 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3144 ! cutis laxa [Term] id: DOID:0070142 name: autosomal dominant cutis laxa def: "A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18348261] subset: DO_rare_slim synonym: "ADCL" EXACT OMO:0003012 [] xref: ICD10CM:Q82.8 xref: ORDO:90348 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3144 ! cutis laxa [Term] id: DOID:0070143 name: autosomal recessive cutis laxa type III def: "A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18388779] subset: DO_rare_slim synonym: "cutis laxa-corneal clouding-intellectual disability syndrome" EXACT [] synonym: "De Barsy syndrome" EXACT [] xref: GARD:49 xref: MESH:C535990 xref: ORDO:2962 xref: SNOMEDCT_US_2023_03_01:238826008 xref: UMLS_CUI:C0268354 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3144 ! cutis laxa [Term] id: DOID:0070144 name: autosomal recessive cutis laxa type I def: "A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19401719] subset: DO_rare_slim synonym: "autosomal recessive cutis laxa type 1" EXACT [] xref: GARD:8480 xref: MESH:C562628 xref: ORDO:90439 xref: SNOMEDCT_US_2023_03_01:254222002 xref: UMLS_CUI:C0268351 xref: UMLS_CUI:C0432336 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3144 ! cutis laxa [Term] id: DOID:0070145 name: hereditary sensory and autonomic neuropathy type 5 def: "A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14976160, url:https\://www.ncbi.nlm.nih.gov/pubmed/77656] subset: DO_rare_slim subset: NCIthesaurus synonym: "hereditary sensory and autonomic neuropathy type V" EXACT [] synonym: "HSAN5" EXACT OMO:0003012 [] xref: GARD:12328 xref: MESH:D000699 xref: MESH:D009477 xref: MIM:608654 xref: NCI:C156360 xref: ORDO:608654 xref: SNOMEDCT_US_2023_03_01:128206006 xref: SNOMEDCT_US_2023_03_01:403605007 xref: UMLS_CUI:C0002768 xref: UMLS_CUI:C0020075 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070146 name: hereditary sensory neuropathy type 4 def: "A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14272277, url:https\://www.ncbi.nlm.nih.gov/pubmed/8696348] subset: DO_rare_slim subset: NCIthesaurus synonym: "hereditary sensory neuropathy type IV" EXACT [] synonym: "insensitivity to pain, congenital, with anhidrosis" EXACT [] xref: GARD:3006 xref: MESH:D009477 xref: MIM:256800 xref: NCI:C118633 xref: ORDO:642 xref: SNOMEDCT_US_2023_03_01:62985007 xref: UMLS_CUI:C0020074 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070147 name: hereditary sensory neuropathy type 2C def: "A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21820098] synonym: "hereditary sensory neuropathy type IIC" EXACT [] synonym: "HSN2C" EXACT OMO:0003012 [] xref: MIM:614213 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070161 ! hereditary sensory and autonomic neuropathy type 2 [Term] id: DOID:0070148 name: hereditary sensory neuropathy type 1B def: "A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12870133, url:https\://www.ncbi.nlm.nih.gov/pubmed/16311270] subset: DO_rare_slim synonym: "hereditary sensory neuropathy type IB" EXACT [] synonym: "HSAN with cough and gastroesophageal reflux" EXACT [] xref: MESH:C564296 xref: MIM:608088 xref: ORDO:139564 xref: SNOMEDCT_US_2023_03_01:717825008 xref: UMLS_CUI:C1842586 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070149 name: hereditary sensory and autonomic neuropathy type 7 def: "A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24036948] subset: DO_rare_slim synonym: "hereditary sensory and autonomic neuropathy type VII" EXACT [] synonym: "HSAN7" EXACT OMO:0003012 [] xref: GARD:12723 xref: ICD10CM:G60.8 xref: MIM:615548 xref: ORDO:391397 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070150 name: hereditary sensory and autonomic neuropathy type 2B def: "A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19838196, url:https\://www.ncbi.nlm.nih.gov/pubmed/24327336] synonym: "hereditary sensory and autonomic neuropathy type IIB" EXACT [] synonym: "HSAN2B" EXACT OMO:0003012 [] xref: MIM:613115 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070161 ! hereditary sensory and autonomic neuropathy type 2 [Term] id: DOID:0070151 name: hereditary sensory and autonomic neuropathy type 6 def: "A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22522446] subset: DO_rare_slim synonym: "hereditary sensory and autonomic neuropathy type VI" EXACT [] synonym: "HSAN6" EXACT OMO:0003012 [] xref: ICD10CM:G60.8 xref: MIM:614653 xref: ORDO:314381 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070152 name: hereditary sensory and autonomic neuropathy type 1A def: "A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11242114] synonym: "hereditary sensory and autonomic neuropathy type IA" EXACT [] synonym: "HSAN1A" EXACT OMO:0003012 [] xref: MIM:162400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1 [Term] id: DOID:0070153 name: hereditary sensory and autonomic neuropathy type 8 def: "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26005867] subset: DO_rare_slim synonym: "hereditary sensory and autonomic neuropathy type VIII" EXACT [] synonym: "HSAN8" EXACT OMO:0003012 [] xref: MIM:616488 xref: ORDO:478664 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070154 name: hereditary sensory neuropathy type 1F def: "A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24459106] synonym: "hereditary sensory neuropathy type IF" EXACT [] synonym: "HSN1F" EXACT OMO:0003012 [] xref: MIM:615632 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1 [Term] id: DOID:0070155 name: hereditary sensory and autonomic neuropathy type 2A def: "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14152533, url:https\://www.ncbi.nlm.nih.gov/pubmed/15060842] synonym: "hereditary sensory and autonomic neuropathy type IIA" EXACT [] synonym: "HSAN2A" EXACT OMO:0003012 [] xref: MIM:201300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070161 ! hereditary sensory and autonomic neuropathy type 2 [Term] id: DOID:0070156 name: hereditary sensory neuropathy type 1D def: "A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21194679] synonym: "HSN1D" EXACT OMO:0003012 [] xref: MIM:613708 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1 [Term] id: DOID:0070157 name: hereditary sensory and autonomic neuropathy type 1C def: "A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20920666] synonym: "hereditary sensory and autonomic neuropathy type IC" EXACT [] synonym: "HSAN1C" EXACT OMO:0003012 [] xref: MIM:613640 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1 [Term] id: DOID:0070158 name: hereditary sensory neuropathy type 1E def: "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21532572] subset: DO_rare_slim synonym: "hereditary sensory neuropathy type IE" EXACT [] synonym: "HSN1E" EXACT OMO:0003012 [] xref: GARD:11927 xref: ICD10CM:G60.8 xref: MIM:614116 xref: ORDO:456318 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070159 name: hereditary sensory neuropathy X-linked def: "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3866836] xref: MIM:310470 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0070160 name: atypical hereditary sensory neuropathy def: "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities." [url:https\://www.ncbi.nlm.nih.gov/pubmed/191348] xref: MIM:256860 is_a: DOID:0050548 ! hereditary sensory neuropathy [Term] id: DOID:0070161 name: hereditary sensory and autonomic neuropathy type 2 def: "A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21089229] subset: DO_rare_slim synonym: "hereditary sensory and autonomic neuropathy type II" EXACT [] synonym: "HSAN2" EXACT OMO:0003012 [] xref: GARD:3976 xref: MESH:D002607 xref: MESH:D009477 xref: ORDO:970 xref: SNOMEDCT_US_2023_03_01:30508001 xref: UMLS_CUI:C0020072 xref: UMLS_CUI:C0270914 is_a: DOID:0050548 ! hereditary sensory neuropathy [Term] id: DOID:0070162 name: hereditary sensory and autonomic neuropathy type 1 def: "A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18348718] subset: DO_rare_slim subset: NCIthesaurus synonym: "hereditary sensory and autonomic neuropathy type I" EXACT [] synonym: "HSAN1" EXACT OMO:0003012 [] xref: GARD:6635 xref: MESH:D009477 xref: NCI:C170433 xref: ORDO:36386 xref: SNOMEDCT_US_2023_03_01:52647008 xref: UMLS_CUI:C0020071 is_a: DOID:0050548 ! hereditary sensory neuropathy [Term] id: DOID:0070163 name: spermatogenic failure 21 def: "A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28199965] xref: MIM:617644 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa [Term] id: DOID:0070164 name: spermatogenic failure 2 def: "A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in inversions on chromosome 1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15367911] synonym: "SPGF2" EXACT OMO:0003012 [] xref: MIM:108420 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070165 name: spermatogenic failure 18 def: "A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24360805] synonym: "SPGF18" EXACT OMO:0003012 [] xref: MIM:617576 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070166 name: spermatogenic failure 20 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28552195] synonym: "SPGF20" EXACT OMO:0003012 [] xref: MIM:617593 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070167 name: spermatogenic failure 6 def: "A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17847006] subset: NCIthesaurus synonym: "SPGF6" EXACT OMO:0003012 [] xref: MESH:D000072660 xref: MIM:102530 xref: NCI:C158500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112312 ! male infertility due to globozoospermia [Term] id: DOID:0070168 name: spermatogenic failure 3 def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23582645] synonym: "SPGF3" EXACT OMO:0003012 [] xref: MIM:606766 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070169 name: spermatogenic failure 8 def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20887963] synonym: "SPGF8" EXACT OMO:0003012 [] xref: MIM:613957 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070170 name: spermatogenic failure 19 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28552195] synonym: "SPGF19" EXACT OMO:0003012 [] xref: MIM:617592 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070171 name: spermatogenic failure 12 def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23315541] synonym: "SPGF12" EXACT OMO:0003012 [] xref: MIM:615413 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070172 name: spermatogenic failure 15 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25899990] synonym: "SPGF15" EXACT OMO:0003012 [] xref: MIM:616950 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070173 name: spermatogenic failure 7 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19344877] synonym: "SPGF7" EXACT OMO:0003012 [] xref: MESH:C567832 xref: MIM:612997 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070174 name: spermatogenic failure 17 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26721930] synonym: "Male infertility due to oocyte activation failure" EXACT [] synonym: "SPGF17" EXACT OMO:0003012 [] xref: MIM:617214 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070175 name: obsolete spermatogenic failure 9 is_obsolete: true [Term] id: DOID:0070176 name: spermatogenic failure 4 def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14643120] synonym: "SPGF4" EXACT OMO:0003012 [] xref: MIM:270960 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070177 name: spermatogenic failure 22 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28206990] synonym: "SPGF22" EXACT OMO:0003012 [] xref: MIM:617706 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070178 name: spermatogenic failure 10 def: "A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22275165] synonym: "Spermatogenic failure with defective sperm annulus" EXACT [] synonym: "SPGF10" EXACT OMO:0003012 [] xref: MIM:614822 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070179 name: spermatogenic failure 14 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of a maturation arrest in the spermatid stage of development that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24431330] synonym: "SPGF14" EXACT OMO:0003012 [] xref: MIM:615842 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070180 name: spermatogenic failure 11 def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17047026] synonym: "SPGF11" EXACT OMO:0003012 [] xref: MIM:615081 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070181 name: spermatogenic failure 23 def: "A spermatogenic failure that is characterized by autosomal recessive inhertitance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28206990] synonym: "SPGF23" EXACT OMO:0003012 [] xref: MIM:617707 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070182 name: spermatogenic failure 13 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24431330] synonym: "SPGF13" EXACT OMO:0003012 [] xref: MIM:615841 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070183 name: spermatogenic failure 5 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17435757] subset: DO_rare_slim synonym: "Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid" EXACT [] synonym: "infertility associated with multitailed spermatozoa and excessive DNA" EXACT [] synonym: "macrocephalic sperm head syndrome" EXACT [] synonym: "male infertility due to macrozoospermia" EXACT [] synonym: "male infertility with large-headed, multiflagellar, polyploid spermatozoa" EXACT [] synonym: "SPGF5" EXACT OMO:0003012 [] xref: GARD:12385 xref: MESH:C562903 xref: MIM:243060 xref: ORDO:137893 xref: SNOMEDCT_US_2021_09_01:236806004 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070184 name: spermatogenic failure 16 def: "A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27640305] synonym: "acephalic spermatozoa syndrome" EXACT [] synonym: "SPGF16" EXACT OMO:0003012 [] xref: MIM:617187 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa [Term] id: DOID:0070185 name: X-linked spermatogenic failure 2 def: "A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25970010] synonym: "SPGFX2" EXACT OMO:0003012 [] xref: MIM:309120 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070186 name: Y-linked spermatogenic failure 1 def: "A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2603934] synonym: "SPGFY1" EXACT OMO:0003012 [] synonym: "type I Sertoli cell-only syndrome" EXACT [] synonym: "Y-linked Sertoli cell-only syndrome" EXACT [] xref: MIM:400042 is_a: DOID:0050457 ! Sertoli cell-only syndrome is_a: DOID:0050738 ! Y-linked monogenic disease is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0070187 name: Y-linked spermatogenic failure 2 def: "A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19737515] synonym: "nonobstructive Y-linked spermatogenic failure" EXACT [] synonym: "SPGFY2" EXACT OMO:0003012 [] xref: MESH:C564030 xref: MIM:415000 is_a: DOID:0050738 ! Y-linked monogenic disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070188 name: spermatogenic failure 1 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7446525] synonym: "oligochiasmatic infertility" EXACT [] synonym: "oligosynaptic infertility" EXACT [] synonym: "SPGF1" EXACT OMO:0003012 [] xref: MIM:258150 is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070189 name: X-linked spermatogenic failure 1 def: "A Sertoli cell-only syndrome characterized by X-linked inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10507722] synonym: "SPGFX1" EXACT OMO:0003012 [] xref: MIM:305700 is_a: DOID:0050457 ! Sertoli cell-only syndrome [Term] id: DOID:0070190 name: obsolete autosomal dominant chronic granulomatous disease def: "A chronic granulomatous disease characterized by autosomal dominant inheritance." [url:http\://www.omim.org/entry/138990] comment: OMIM merged into X-linked chronic granulomatous disease[LS] is_obsolete: true [Term] id: DOID:0070191 name: autosomal recessive chronic granulomatous disease 2 def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7795241] synonym: "autosomal recessive chronic granulomatous disease cytochrome b-positive type II" EXACT [] synonym: "CDG2" EXACT OMO:0003012 [] synonym: "chronic granulomatous disease due to deficiency of NCF-2" EXACT [] synonym: "deficiency of NCF2" EXACT [] synonym: "deficiency of p67-PHOX" EXACT [] xref: MIM:233710 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070192 name: autosomal recessive chronic granulomatous disease 1 def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2770793] synonym: "autosomal recessive chronic granulomatous disease cytochrome b-positive type I" EXACT [] synonym: "CDG1" EXACT OMO:0003012 [] synonym: "chronic granulomatous disease due to deficiency of NCF-1" EXACT [] synonym: "deficiency of NCF1" EXACT [] synonym: "deficiency of neutrophil cytosol factor 1" EXACT [] synonym: "deficiency of p47-PHOX" EXACT [] synonym: "deficiency of SOC2" EXACT [] synonym: "deficiency of soluble oxidase component II" EXACT [] xref: MIM:233700 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070193 name: autosomal recessive chronic granulomatous disease 4 def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2770793] synonym: "autosomal recessive chronic granulomatous disease cytochrome b-negative" EXACT [] synonym: "autosomal recessive cytochrome b-negative CGD" EXACT [] synonym: "CGD due to deficiency of the alpha subunit of cytochrome b" EXACT [] synonym: "chronic granulomatous disease due to deficiency of CYBA" EXACT [] synonym: "CYBA deficiency" EXACT [] xref: MIM:233690 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070194 name: autosomal recessive chronic granulomatous disease 3 def: "A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19692703] synonym: "autosomal recessive chronic granulomatous disease cytochrome b-positive type III" EXACT [] synonym: "autosomal recessive cytochrome b-positive CGD type III" EXACT [] synonym: "CDG3" EXACT OMO:0003012 [] synonym: "chronic granulomatous disease due to NCF4 deficiency" EXACT [] xref: MIM:613960 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070195 name: X-linked chronic granulomatous disease alt_id: DOID:0070190 def: "A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4." [url:https\://www.ncbi.nlm.nih.gov/pubmed/4039107] synonym: "CDGX" EXACT OMO:0003012 [] synonym: "X-linked chronic cytochrome b-negative granulomatous disease" EXACT [] xref: MIM:306400 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070196 name: infantile-onset distal myopathy def: "A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development." [url:https\://www.ncbi.nlm.nih.gov/pubmed/5834698] xref: MIM:160300 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0070197 name: distal myopathy 1 def: "A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15322983, url:https\://www.ncbi.nlm.nih.gov/pubmed/7847377] subset: DO_rare_slim synonym: "Distal myopathy type 1" EXACT [] synonym: "Gowers disease" EXACT [] synonym: "Laing distal myopathy" EXACT [] synonym: "Laing early-onset distal myopathy" EXACT [] synonym: "MPD1" EXACT OMO:0003012 [] xref: GARD:10769 xref: MIM:160500 xref: ORDO:59135 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0070198 name: Miyoshi muscular dystrophy def: "A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3942856] subset: DO_rare_slim synonym: "Miyoshi myopathy" EXACT [] xref: GARD:9676 xref: MESH:C537480 xref: MIM:PS254130 xref: ORDO:45448 is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0070199 name: Miyoshi muscular dystrophy 1 def: "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9731526] synonym: "Miyoshi myopathy 1" EXACT [] synonym: "MMD1" EXACT OMO:0003012 [] xref: MIM:254130 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070198 ! Miyoshi muscular dystrophy [Term] id: DOID:0070200 name: Miyoshi muscular dystrophy 2 def: "A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9673985] synonym: "Miyoshi myopathy 2" EXACT [] synonym: "MMD2" EXACT OMO:0003012 [] xref: MESH:C567646 xref: MIM:613318 is_a: DOID:0070198 ! Miyoshi muscular dystrophy [Term] id: DOID:0070201 name: Miyoshi muscular dystrophy 3 def: "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20096397] synonym: "Miyoshi myopathy 3" EXACT [] synonym: "MMD3" EXACT OMO:0003012 [] xref: MESH:C567645 xref: MIM:613319 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070198 ! Miyoshi muscular dystrophy [Term] id: DOID:0070202 name: familial partial lipodystrophy type 2 def: "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10587585, url:https\://www.ncbi.nlm.nih.gov/pubmed/170190] subset: DO_rare_slim subset: NCIthesaurus synonym: "familial lipodystrophy of limbs and lower trunk" EXACT [] synonym: "familial partial lipodystrophy Dunnigan type" EXACT [] synonym: "FPLD2" EXACT OMO:0003012 [] synonym: "reverse partial lipodystrophy" EXACT [] xref: GARD:3126 xref: MESH:D052496 xref: MIM:151660 xref: NCI:C165527 xref: ORDO:2348 xref: SNOMEDCT_US_2023_03_01:715439000 xref: UMLS_CUI:C1720860 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070203 name: familial partial lipodystrophy type 5 def: "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20049731] subset: DO_rare_slim synonym: "CIDEC-related FPLD" EXACT [] synonym: "familial partial lipodystrophy associated with CIDEC mutations" EXACT [] synonym: "FPLD5" EXACT OMO:0003012 [] xref: MIM:615238 xref: ORDO:435651 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070204 name: familial partial lipodystrophy type 3 def: "A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10622252] subset: DO_rare_slim synonym: "familial partial lipodystrophy associated with PPARG mutations" EXACT [] synonym: "FPLD3" EXACT OMO:0003012 [] synonym: "PPARG-related familial partial lipodystrophy" EXACT [] synonym: "PPARG-related FPLD" EXACT [] xref: GARD:12600 xref: MESH:D052496 xref: MIM:604367 xref: ORDO:79083 xref: SNOMEDCT_US_2023_03_01:1197745002 xref: UMLS_CUI:C1720861 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070205 name: familial partial lipodystrophy type 4 def: "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21345103] subset: DO_rare_slim synonym: "familial partial lipodystrophy associated with PLIN1 mutations" EXACT [] synonym: "FPLD4" EXACT OMO:0003012 [] synonym: "PLIN1-related familial partial lipodystrophy" EXACT [] synonym: "PLIN1-related FPLD" EXACT [] xref: GARD:12601 xref: MIM:613877 xref: ORDO:280356 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070206 name: familial partial lipodystrophy type 6 def: "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24848981] subset: DO_rare_slim synonym: "familial partial lipodystrophy associated with LIPE mutations" EXACT [] synonym: "FPLD6" EXACT OMO:0003012 [] synonym: "LIPE-related familial partial lipodystrophy" EXACT [] synonym: "LIPE-related FPLD" EXACT [] xref: MIM:615980 xref: ORDO:435660 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070207 name: familial partial lipodystrophy type 1 def: "A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3712389] subset: DO_rare_slim synonym: "familial partial lipodystrophy Kobberling type" EXACT [] synonym: "FPLD1" EXACT OMO:0003012 [] xref: GARD:12598 xref: MESH:D052496 xref: MIM:608600 xref: ORDO:79084 xref: SNOMEDCT_US_2023_03_01:725035001 xref: UMLS_CUI:C1720859 is_a: DOID:0050440 ! familial partial lipodystrophy [Term] id: DOID:0070208 name: hereditary lymphedema IC def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20537300] synonym: "LMPH1C" EXACT OMO:0003012 [] xref: MIM:613480 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070209 name: hereditary lymphedema ID def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23410910] synonym: "LMPH1D" EXACT OMO:0003012 [] xref: MIM:615907 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070210 name: hereditary lymphedema IA def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10835628, url:https\://www.ncbi.nlm.nih.gov/pubmed/9817924] synonym: "LMPH1A" EXACT OMO:0003012 [] xref: MIM:153100 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070211 name: hereditary lymphedema IB def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18193458] synonym: "LMPH1B" EXACT OMO:0003012 [] xref: MIM:611944 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070212 name: hereditary lymphedema I def: "A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9817924] subset: DO_rare_slim subset: NCIthesaurus synonym: "congenital primary lymphedema" EXACT [] synonym: "hereditary lymphedema type I" EXACT [] synonym: "LMPH1" EXACT OMO:0003012 [] synonym: "Milroy disease" EXACT [] synonym: "Nonne-Milroy lymphedema" EXACT [] synonym: "PCL" EXACT OMO:0003012 [] xref: GARD:7220 xref: ICD10CM:Q82.0 xref: MESH:D008209 xref: NCI:C48829 xref: ORDO:79452 xref: SNOMEDCT_US_2023_03_01:268355000 xref: UMLS_CUI:C1704423 is_a: DOID:0050580 ! hereditary lymphedema [Term] id: DOID:0070213 name: hereditary lymphedema II def: "A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6342849] subset: DO_rare_slim synonym: "late-onset lymphedema" EXACT [] synonym: "LMPH2" EXACT OMO:0003012 [] synonym: "lymphedema preacox" EXACT [] synonym: "Meige disease" EXACT [] synonym: "Meige lymphedema" EXACT [] xref: GARD:3324 xref: ICD10CM:I89.0 xref: MESH:C562467 xref: MIM:153200 xref: ORDO:90186 xref: SNOMEDCT_US_2023_03_01:234098006 xref: SNOMEDCT_US_2023_03_01:400040008 xref: UMLS_CUI:C0238261 xref: UMLS_CUI:C1704424 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070214 name: familial hyperinsulinemic hypoglycemia 7 def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17701893] subset: DO_rare_slim subset: NCIthesaurus synonym: "EIHI" EXACT OMO:0003012 [] synonym: "exercise-induced hyperinsulinemic hypoglycemia" EXACT [] synonym: "exercise-induced hyperinsulinism" EXACT [] synonym: "HHF7" EXACT OMO:0003012 [] synonym: "hyperinsulinism due to monocarboxylate transporter 1 deficiency" EXACT [] synonym: "hyperinsulinism due to SLC16A1 deficiency" EXACT [] xref: GARD:9932 xref: MESH:C538376 xref: MIM:610021 xref: NCI:C131839 xref: ORDO:165991 xref: SNOMEDCT_US_2023_03_01:715830008 xref: UMLS_CUI:C1864902 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070215 name: familial hyperinsulinemic hypoglycemia 4 def: "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11489939] subset: DO_rare_slim synonym: "HHF4" EXACT OMO:0003012 [] synonym: "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT [] synonym: "hyperinsulinism due to glutamodehydrogenase deficiency" EXACT [] synonym: "hyperinsulinism due to SCHAD deficiency" EXACT [] synonym: "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT [] xref: GARD:2819 xref: MIM:609975 xref: ORDO:71212 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070216 name: familial hyperinsulinemic hypoglycemia 3 def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11916951, url:https\://www.ncbi.nlm.nih.gov/pubmed/9435328] subset: DO_rare_slim synonym: "HHF3" EXACT OMO:0003012 [] synonym: "hyperinsulinemic hypoglycemia due to glucokinase deficiency" EXACT [] synonym: "hyperinsulinism due to glucokinase deficiency" EXACT [] xref: GARD:2818 xref: MIM:602485 xref: ORDO:79299 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070217 name: familial hyperinsulinemic hypoglycemia 6 def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8769351, url:https\://www.ncbi.nlm.nih.gov/pubmed/9571255] subset: DO_rare_slim synonym: "HHF6" EXACT OMO:0003012 [] synonym: "HI/HA syndrome" EXACT [] synonym: "hyperinsulinism-hyperammonemia syndrome" EXACT [] xref: GARD:9931 xref: MIM:606762 xref: ORDO:35878 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070218 name: familial hyperinsulinemic hypoglycemia 2 def: "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8923010, url:https\://www.ncbi.nlm.nih.gov/pubmed/9356020] synonym: "Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [] synonym: "HHF2" EXACT OMO:0003012 [] synonym: "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" EXACT [] xref: MIM:601820 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070219 name: familial hyperinsulinemic hypoglycemia 1 def: "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7005072, url:https\://www.ncbi.nlm.nih.gov/pubmed/7716548, url:https\://www.ncbi.nlm.nih.gov/pubmed/8545179] synonym: "HHF1" EXACT OMO:0003012 [] xref: MIM:256450 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070220 name: familial hyperinsulinemic hypoglycemia 5 def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15161766] subset: DO_rare_slim synonym: "HHF5" EXACT OMO:0003012 [] synonym: "hyperinsulinemic hypoglycemia due to INSR deficiency" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" EXACT [] synonym: "hyperinsulinism due to INSR deficiency" EXACT [] xref: MIM:609968 xref: ORDO:263458 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070221 name: progressive familial intrahepatic cholestasis def: "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15239083, url:https\://www.ncbi.nlm.nih.gov/pubmed/8014759] subset: DO_rare_slim subset: NCIthesaurus synonym: "Byler disease" EXACT [] synonym: "PFIC" EXACT OMO:0003012 [] xref: MIM:PS211600 xref: NCI:C84453 xref: ORDO:172 xref: SNOMEDCT_US_2023_03_01:74162007 xref: UMLS_CUI:C0268312 is_a: DOID:1852 ! intrahepatic cholestasis [Term] id: DOID:0070222 name: progressive familial intrahepatic cholestasis 2 def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9806540] subset: DO_rare_slim synonym: "BSEP deficiency" EXACT [] synonym: "PFIC2" EXACT OMO:0003012 [] xref: GARD:1288 xref: MESH:C535934 xref: MIM:601847 xref: ORDO:79304 xref: SNOMEDCT_US_2023_03_01:1155841005 xref: UMLS_CUI:C3489789 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis [Term] id: DOID:0070223 name: progressive familial intrahepatic cholestasis 3 def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9419367] subset: DO_rare_slim synonym: "MDR3 deficiency" EXACT [] synonym: "PFIC3" EXACT OMO:0003012 [] synonym: "progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase" EXACT [] xref: GARD:1289 xref: MESH:C535935 xref: MIM:602347 xref: ORDO:79305 xref: SNOMEDCT_US_2023_03_01:1186865008 xref: UMLS_CUI:C1865643 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis [Term] id: DOID:0070224 name: progressive familial intrahepatic cholestasis 4 def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24614073] subset: DO_rare_slim synonym: "PFIC4" EXACT OMO:0003012 [] synonym: "TJP2 deficit" EXACT [] xref: MIM:615878 xref: ORDO:480483 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis [Term] id: DOID:0070225 name: progressive familial intrahepatic cholestasis 5 def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26888176] subset: DO_rare_slim synonym: "NR1H4 deficiency" EXACT [] synonym: "PFIC5" EXACT OMO:0003012 [] xref: MIM:617049 xref: ORDO:480476 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis [Term] id: DOID:0070226 name: progressive familial intrahepatic cholestasis 1 def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9500542] subset: DO_rare_slim synonym: "FIC1 deficiency" EXACT [] synonym: "PFIC1" EXACT OMO:0003012 [] xref: GARD:9802 xref: MESH:C535933 xref: MIM:211600 xref: ORDO:79306 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis [Term] id: DOID:0070227 name: intrahepatic cholestasis of pregnancy def: "An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27936482] subset: DO_rare_slim synonym: "gravidic intrahepatic cholestasis" EXACT [] synonym: "ICP" EXACT OMO:0003012 [] synonym: "pregnancy related cholestasis" EXACT [] synonym: "recurrent intrahepatic cholestasis of pregnancy" EXACT [] xref: GARD:9804 xref: MESH:C535932 xref: ORDO:69665 is_a: DOID:1852 ! intrahepatic cholestasis [Term] id: DOID:0070228 name: intrahepatic cholestasis of pregnancy 1 def: "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15888793] synonym: "ICP1" EXACT OMO:0003012 [] synonym: "pregnancy related cholestasis 1" EXACT [] xref: MIM:147480 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070227 ! intrahepatic cholestasis of pregnancy [Term] id: DOID:0070229 name: intrahepatic cholestasis of pregnancy 3 def: "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9419367] synonym: "ICP3" EXACT OMO:0003012 [] synonym: "pregnancy related cholestasis 3" EXACT [] xref: MIM:614972 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070227 ! intrahepatic cholestasis of pregnancy [Term] id: DOID:0070230 name: benign recurrent intrahepatic cholestasis def: "An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23402083] subset: DO_rare_slim subset: NCIthesaurus synonym: "BRIC" EXACT OMO:0003012 [] synonym: "Summerskill-Walshe-Tygstrup syndrome" EXACT [] xref: GARD:12185 xref: MIM:PS243300 xref: NCI:C84402 xref: ORDO:65682 xref: SNOMEDCT_US_2021_09_01:31155007 is_a: DOID:1852 ! intrahepatic cholestasis [Term] id: DOID:0070231 name: benign recurrent intrahepatic cholestasis 1 def: "A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9500542] subset: DO_rare_slim synonym: "BRIC type 1" EXACT [] synonym: "BRIC1" EXACT OMO:0003012 [] synonym: "Summerskill syndrome" EXACT [] xref: GARD:10028 xref: MIM:243300 xref: ORDO:99960 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070230 ! benign recurrent intrahepatic cholestasis [Term] id: DOID:0070232 name: benign recurrent intrahepatic cholestasis 2 def: "A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15300568] subset: DO_rare_slim synonym: "BRIC type 2" EXACT [] synonym: "BRIC2" EXACT OMO:0003012 [] xref: GARD:10029 xref: MESH:C535934 xref: MIM:605479 xref: ORDO:99961 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070230 ! benign recurrent intrahepatic cholestasis [Term] id: DOID:0070233 name: Loeys-Dietz syndrome 4 def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22772368] synonym: "Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations" EXACT [] synonym: "LDS4" EXACT OMO:0003012 [] xref: MIM:614816 is_a: DOID:0050466 ! Loeys-Dietz syndrome [Term] id: DOID:0070234 name: Loeys-Dietz syndrome 2 def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15235604, url:https\://www.ncbi.nlm.nih.gov/pubmed/15731757] synonym: "AAT3" EXACT OMO:0003012 [] synonym: "familial throacic aortic aneurysm 3" EXACT [] synonym: "LDS2" EXACT OMO:0003012 [] synonym: "Marfan syndrome type II" EXACT [] xref: MIM:610168 is_a: DOID:0050466 ! Loeys-Dietz syndrome [Term] id: DOID:0070235 name: Loeys-Dietz syndrome 1 def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15731757] synonym: "AAT5" EXACT OMO:0003012 [] synonym: "familial throacic aortic aneurysm 5" EXACT [] synonym: "Furlong syndrome" EXACT [] synonym: "LDS1" EXACT OMO:0003012 [] xref: MIM:609192 is_a: DOID:0050466 ! Loeys-Dietz syndrome [Term] id: DOID:0070236 name: Loeys-Dietz syndrome 5 def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23824657, url:https\://www.ncbi.nlm.nih.gov/pubmed/25835445] synonym: "LDS5" EXACT OMO:0003012 [] synonym: "Reinhoff syndrome" EXACT [] synonym: "RNHF" EXACT OMO:0003012 [] xref: MIM:615582 is_a: DOID:0050466 ! Loeys-Dietz syndrome [Term] id: DOID:0070237 name: Loeys-Dietz syndrome 3 def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21217753] synonym: "aneurysms-osteoarthritis syndrome" EXACT [] synonym: "LDS1C" EXACT OMO:0003012 [] synonym: "LDS3" EXACT OMO:0003012 [] synonym: "Loeys-Dietz syndrome type 1C" EXACT [] synonym: "Loeys-Dietz syndrome with osteoarthritis" EXACT [] xref: MIM:613795 is_a: DOID:0050466 ! Loeys-Dietz syndrome [Term] id: DOID:0070238 name: primary coenzyme Q10 deficiency 1 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19375058] synonym: "coenzyme Q deficiency 1" EXACT [] synonym: "CoQ deficiency 1" EXACT [] synonym: "CoQ10 deficiency, primary, 1" EXACT [] synonym: "COQ10D1" EXACT OMO:0003012 [] synonym: "ubiquinone deficiency 1" EXACT [] xref: MIM:607426 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070239 name: primary coenzyme Q10 deficiency 2 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17332895] subset: DO_rare_slim synonym: "coenzyme Q10 deficiency, primary, 2" EXACT [] synonym: "COQ10D2" EXACT OMO:0003012 [] synonym: "deafness-encephaloneuropathy-obesity-valvulopathy syndrome" EXACT [] synonym: "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome" EXACT [] xref: MIM:614651 xref: ORDO:254898 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070240 name: primary coenzyme Q10 deficiency 3 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17186472] synonym: "coenzyme Q10 deficiency, primary, 3" EXACT [] synonym: "COQ10D3" EXACT OMO:0003012 [] xref: MIM:614652 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070241 name: primary coenzyme Q10 deficiency 4 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18319072] subset: DO_rare_slim synonym: "coenzyme Q10 deficiency, primary, 4" EXACT [] synonym: "COQ10D4" EXACT OMO:0003012 [] synonym: "SCAR9" EXACT OMO:0003012 [] synonym: "spinocerebellar ataxia, autosomal recessive 9" EXACT [] xref: GARD:10294 xref: MIM:612016 xref: ORDO:139485 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070242 name: primary coenzyme Q10 deficiency 5 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19375058] subset: DO_rare_slim synonym: "coenzyme Q10 deficiency, primary, 5" EXACT [] synonym: "COQ10D5" EXACT OMO:0003012 [] synonym: "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome" EXACT [] xref: MIM:614654 xref: ORDO:319678 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070243 name: primary coenzyme Q10 deficiency 6 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21540551] subset: DO_rare_slim synonym: "coenzyme Q10 deficiency, primary, 6" EXACT [] synonym: "COQ10D6" EXACT OMO:0003012 [] synonym: "familial steroid-resistant nephrotic syndrome with sensorineural deafness" EXACT [] xref: MIM:614650 xref: ORDO:280406 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070244 name: primary coenzyme Q10 deficiency 7 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25658047] subset: DO_rare_slim synonym: "coenzyme Q10 deficiency, primary, 7" EXACT [] synonym: "COQ10D7" EXACT OMO:0003012 [] synonym: "COQ4-related neonatal encephalomyopathy" EXACT [] synonym: "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome" EXACT [] xref: MIM:616276 xref: ORDO:457185 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070245 name: primary coenzyme Q10 deficiency 8 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26084283] synonym: "coenzyme Q10 deficiency, primary, 8" EXACT [] synonym: "COQ10D8" EXACT OMO:0003012 [] xref: MIM:616733 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070246 name: X-linked Emery-Dreifuss muscular dystrophy 1 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8042665] synonym: "EDMD1" EXACT OMO:0003012 [] synonym: "EMD1" EXACT OMO:0003012 [] synonym: "Emery-Dreifuss muscular dystrophy 1, X-linked" EXACT [] synonym: "humeroperoneal neuromuscular disease" EXACT [] synonym: "muscular dystrophy, tardive, Dreifuss-Emery type, with contractures" EXACT [] synonym: "scapuloperoneal syndrome, X-linked" EXACT [] xref: MIM:310300 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0070247 name: autosomal dominant Emery-Dreifuss muscular dystrophy 2 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10080180, url:https\://www.ncbi.nlm.nih.gov/pubmed/10814726, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=30055862] subset: DO_rare_slim synonym: "autosomal dominant limb-girdle muscular dystrophy type 1B" EXACT [] synonym: "EDMD2" EXACT OMO:0003012 [] synonym: "EMD2" EXACT OMO:0003012 [] synonym: "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy, autosomal dominant" EXACT [] synonym: "Hauptmann-Thannhauser muscular dystrophy" EXACT [] synonym: "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant" EXACT [] synonym: "scapuloilioperoneal atrophy with cardiopathy" EXACT [] xref: ICD10CM:G71.0 xref: MIM:181350 xref: ORDO:264 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0070248 name: autosomal recessive Emery-Dreifuss muscular dystrophy 3 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10739764] synonym: "EDMD3" EXACT OMO:0003012 [] synonym: "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" EXACT [] xref: MIM:616516 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0070249 name: autosomal dominant Emery-Dreifuss muscular dystrophy 4 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17761684] synonym: "EDMD4" EXACT OMO:0003012 [] synonym: "Emery-Dreifuss muscular dystrophy 4 with variable features" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" EXACT [] xref: MIM:612998 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0070250 name: autosomal dominant Emery-Dreifuss muscular dystrophy 5 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17761684] synonym: "EDMD5" EXACT OMO:0003012 [] synonym: "Emery-Dreifuss muscular dystrophy 5, autosomal dominant" EXACT [] xref: MIM:612999 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0070251 name: X-linked Emery-Dreifuss muscular dystrophy 6 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18179888] synonym: "EDMD6" EXACT OMO:0003012 [] synonym: "Emery-Dreifuss muscular dystrophy 6, X-linked" EXACT [] synonym: "myopathy, X-linked, with postural muscle atrophy" EXACT [] synonym: "XMPMA" EXACT OMO:0003012 [] xref: MIM:300696 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0070252 name: autosomal dominant Emery-Dreifuss muscular dystrophy 7 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21391237] synonym: "EDMD7" EXACT OMO:0003012 [] synonym: "Emery-Dreifuss muscular dystrophy 7, autosomal dominant" EXACT [] xref: MIM:614302 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0070253 name: congenital disorder of glycosylation type IIa def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8127054] subset: DO_rare_slim synonym: "Alkuraya syndrome" EXACT [] synonym: "carbohydrate-deficient glycoprotein syndrome, type II" EXACT [] synonym: "CDG IIa" EXACT OMO:0003012 [] synonym: "CDG2A" EXACT OMO:0003012 [] synonym: "CDGIIa" EXACT OMO:0003012 [] synonym: "CDGS2" EXACT OMO:0003012 [] synonym: "congenital disorder of glycosylation, type IIa" EXACT [] synonym: "mental retardation, growth retardation, prominent columella, and open mouth" EXACT [] xref: GARD:9828 xref: MESH:C535752 xref: MIM:212066 xref: ORDO:79329 xref: SNOMEDCT_US_2023_03_01:724142005 xref: UMLS_CUI:C2931008 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070254 name: congenital disorder of glycosylation type IIb def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10788335] subset: DO_rare_slim synonym: "CDG IIb" EXACT OMO:0003012 [] synonym: "CDG2B" EXACT OMO:0003012 [] synonym: "CDGIIb" EXACT OMO:0003012 [] synonym: "glucosidase I deficiency" EXACT [] xref: GARD:10767 xref: MESH:C565264 xref: MIM:606056 xref: ORDO:79330 xref: SNOMEDCT_US_2023_03_01:725028009 xref: UMLS_CUI:C1853736 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070255 name: congenital disorder of glycosylation type IIc def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10590041] subset: DO_rare_slim subset: NCIthesaurus synonym: "CDG IIc" EXACT OMO:0003012 [] synonym: "CDG2C" EXACT OMO:0003012 [] synonym: "CDGIIc" EXACT OMO:0003012 [] synonym: "Rambam-Hasharon syndrome" EXACT [] xref: GARD:4634 xref: MESH:C535755 xref: MIM:266265 xref: NCI:C4690 xref: ORDO:99843 xref: SNOMEDCT_US_2023_03_01:234583001 xref: UMLS_CUI:C0398739 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070256 name: congenital disorder of glycosylation type IId def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11901181] subset: DO_rare_slim synonym: "CDG IId" EXACT OMO:0003012 [] synonym: "CDG2D" EXACT OMO:0003012 [] synonym: "CDGIId" EXACT OMO:0003012 [] xref: GARD:9841 xref: MESH:C535753 xref: MIM:607091 xref: ORDO:79332 xref: SNOMEDCT_US_2023_03_01:725587007 xref: UMLS_CUI:C2931009 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070257 name: congenital disorder of glycosylation type IIe def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15107842] subset: DO_rare_slim synonym: "Carbohydrate deficient glycoprotein syndrome type IIe" EXACT [] synonym: "CDG IIe" EXACT OMO:0003012 [] synonym: "CDG syndrome type IIe" EXACT [] synonym: "CDG2E" EXACT OMO:0003012 [] synonym: "CDGIIe" EXACT OMO:0003012 [] synonym: "COG7-CDG" EXACT OMO:0003012 [] xref: GARD:9842 xref: MESH:C535754 xref: MIM:608779 xref: ORDO:79333 xref: SNOMEDCT_US_2023_03_01:717773005 xref: UMLS_CUI:C2931010 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070258 name: congenital disorder of glycosylation type IIf def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11157507] subset: DO_rare_slim synonym: "Carbohydrate deficient glycoprotein syndrome type IIf" EXACT [] synonym: "CDG IIf" EXACT OMO:0003012 [] synonym: "CDG2F" EXACT OMO:0003012 [] synonym: "CDGIIf" EXACT OMO:0003012 [] synonym: "CMP-sialic acid transporter deficiency" EXACT [] synonym: "SLC35A1-CDG" EXACT OMO:0003012 [] xref: GARD:12409 xref: MESH:C567040 xref: MIM:603585 xref: ORDO:238459 xref: SNOMEDCT_US_2023_03_01:723624008 xref: UMLS_CUI:C1970344 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070259 name: congenital disorder of glycosylation type IIg def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16537452] subset: DO_rare_slim synonym: "Carbohydrate deficient glycoprotein syndrome type IIg" EXACT [] synonym: "CDG IIg" EXACT OMO:0003012 [] synonym: "CDG2G" EXACT OMO:0003012 [] synonym: "CDGII/COG1 cerebrocostomandibular-like syndrome" EXACT [] synonym: "CDGIIg" EXACT OMO:0003012 [] xref: GARD:10226 xref: MESH:C535756 xref: MIM:611209 xref: ORDO:263508 xref: SNOMEDCT_US_2023_03_01:718750004 xref: UMLS_CUI:C2931011 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070260 name: congenital disorder of glycosylation type IIh def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17220172] subset: DO_rare_slim synonym: "Carbohydrate deficient glycoprotein syndrome type IIh" EXACT [] synonym: "CDG IIh" EXACT OMO:0003012 [] synonym: "CDG2H" EXACT OMO:0003012 [] synonym: "CDGIIh" EXACT OMO:0003012 [] synonym: "COG8-CDG" EXACT OMO:0003012 [] synonym: "Congenital disorder of glycosylation type 2h" EXACT [] xref: GARD:12411 xref: MESH:C566987 xref: MIM:611182 xref: ORDO:95428 xref: SNOMEDCT_US_2023_03_01:717774004 xref: UMLS_CUI:C1970021 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070261 name: congenital disorder of glycosylation type IIi def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19690088] subset: DO_rare_slim synonym: "Carbohydrate deficient glycoprotein syndrome type IIi" EXACT [] synonym: "CDG IIi" EXACT OMO:0003012 [] synonym: "CDG syndrome type IIi" EXACT [] synonym: "CDG2I" EXACT OMO:0003012 [] synonym: "CDGIIi" EXACT OMO:0003012 [] synonym: "COG5-CDG" EXACT OMO:0003012 [] synonym: "Congenital disorder of glycosylation type 2i" EXACT [] xref: GARD:12348 xref: MIM:613612 xref: ORDO:263487 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070262 name: congenital disorder of glycosylation type IIj def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19494034] subset: DO_rare_slim synonym: "Carbohydrate deficient glycoprotein syndrome type IIj" EXACT [] synonym: "CDG IIj" EXACT OMO:0003012 [] synonym: "CDG syndrome type IIj" EXACT [] synonym: "CDG2J" EXACT OMO:0003012 [] synonym: "CDGIIj" EXACT OMO:0003012 [] synonym: "COG4-CDG" EXACT OMO:0003012 [] synonym: "Congenital disorder of glycosylation type 2j" EXACT [] xref: GARD:12412 xref: MIM:613489 xref: ORDO:263501 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070263 name: congenital disorder of glycosylation type IIk def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22683087] subset: DO_rare_slim synonym: "Carbohydrate deficient glycoprotein syndrome type IIk" EXACT [] synonym: "CDG IIk" EXACT OMO:0003012 [] synonym: "CDG syndrome type IIk" EXACT [] synonym: "CDG2K" EXACT OMO:0003012 [] synonym: "CDGIIk" EXACT OMO:0003012 [] synonym: "Congenital disorder of glycosylation type 2k" EXACT [] synonym: "TMEM165-CDG" EXACT OMO:0003012 [] xref: GARD:12413 xref: MIM:614727 xref: ORDO:314667 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070264 name: congenital disorder of glycosylation type IIl def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20605848] subset: DO_rare_slim synonym: "CDG IIl" EXACT OMO:0003012 [] synonym: "CDG syndrome type IIL" EXACT [] synonym: "CDG2L" EXACT OMO:0003012 [] synonym: "CDGIIl" EXACT OMO:0003012 [] synonym: "COG6-CGD" EXACT OMO:0003012 [] synonym: "Congenital disorder of glycosylation type 2l" EXACT [] xref: GARD:10944 xref: MIM:614576 xref: ORDO:464443 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070265 name: congenital disorder of glycosylation type IIm alt_id: DOID:0080469 def: "A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23561849] subset: DO_rare_slim synonym: "CDG IIm" EXACT OMO:0003012 [] synonym: "CDGIIm" EXACT OMO:0003012 [] synonym: "congenital disorder of glycosylation type 2m" EXACT [] synonym: "DEE22" EXACT OMO:0003012 [] synonym: "developmental and epileptic encephalopathy 22" EXACT [] synonym: "EIEE22" EXACT OMO:0003012 [] synonym: "epileptic encephalopathy, early infantile, 22" EXACT [] synonym: "SLC35A2-CDG" EXACT OMO:0003012 [] xref: GARD:12403 xref: MIM:300896 xref: ORDO:356961 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0070266 name: congenital disorder of glycosylation type IIn def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26637978] subset: DO_rare_slim synonym: "Carbohydrate deficient glycoprotein syndrome type IIn" EXACT [] synonym: "CDG IIn" EXACT OMO:0003012 [] synonym: "CDG syndrome type IIn" EXACT [] synonym: "CDG2N" EXACT OMO:0003012 [] synonym: "CDGIIn" EXACT OMO:0003012 [] synonym: "Congenital disorder of glycosylation type 2n" EXACT [] synonym: "SLC39A8-CDG" EXACT OMO:0003012 [] xref: MIM:616721 xref: ORDO:468699 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070267 name: congenital disorder of glycosylation type IIo def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26833332] subset: DO_rare_slim synonym: "Carbohydrate deficient glycoprotein syndrome type IIo" EXACT [] synonym: "CCDC115-CDG" EXACT OMO:0003012 [] synonym: "CDG IIo" EXACT OMO:0003012 [] synonym: "CDG syndrome type IIo" EXACT [] synonym: "CDG2O" EXACT OMO:0003012 [] synonym: "CDGIIo" EXACT OMO:0003012 [] synonym: "Congenital disorder of glycosylation type 2o" EXACT [] xref: MIM:616828 xref: ORDO:468684 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070268 name: congenital disorder of glycosylation type IIp def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26833330] subset: DO_rare_slim synonym: "Carbohydrate deficient glycoprotein syndrome type IIp" EXACT [] synonym: "CDG IIp" EXACT OMO:0003012 [] synonym: "CDG syndrome type IIp" EXACT [] synonym: "CDG2P" EXACT OMO:0003012 [] synonym: "CDGIIp" EXACT OMO:0003012 [] synonym: "Congenital disorder of glycosylation type 2p" EXACT [] synonym: "TMEM199-CDG" EXACT OMO:0003012 [] xref: MIM:616829 xref: ORDO:466703 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070269 name: congenital disorder of glycosylation type IIq def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24784932] subset: DO_rare_slim synonym: "CDG IIq" EXACT OMO:0003012 [] synonym: "CDG2Q" EXACT OMO:0003012 [] synonym: "CDGIIq" EXACT OMO:0003012 [] synonym: "COG2-CDG" EXACT OMO:0003012 [] synonym: "COG2-related congenital disorder of glycosylation" EXACT [] xref: MIM:617395 xref: ORDO:435934 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070270 name: hereditary nonpolyposis colorectal cancer type 8 def: "A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19098912] synonym: "HNPCC8" EXACT OMO:0003012 [] xref: MIM:613244 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070271 name: Lynch syndrome 1 def: "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8261515, url:https\://www.ncbi.nlm.nih.gov/pubmed/8574961] subset: NCIthesaurus synonym: "COCA1" EXACT OMO:0003012 [] synonym: "familial nonpolyposis colon cancer type 1" EXACT [] synonym: "FCC1" EXACT OMO:0003012 [] synonym: "hereditary nonpolyposis colorectal cancer type 1" EXACT [] synonym: "HNPCC1" EXACT OMO:0003012 [] xref: MIM:120435 xref: NCI:C6725 xref: UMLS_CUI:C2936783 is_a: DOID:3883 ! Lynch syndrome property_value: exactMatch "MIM:120435" xsd:string property_value: exactMatch "NCI:C6725" xsd:string property_value: exactMatch "UMLS_CUI:C2936783" xsd:string [Term] id: DOID:0070272 name: hereditary nonpolyposis colorectal cancer type 5 def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9354786] synonym: "HNPCC5" EXACT OMO:0003012 [] xref: MIM:614350 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070273 name: hereditary nonpolyposis colorectal cancer type 6 def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9590282] synonym: "HNPCC6" EXACT OMO:0003012 [] xref: MIM:614331 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070274 name: hereditary nonpolyposis colorectal cancer type 2 def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8128251] synonym: "COCA2" EXACT OMO:0003012 [] synonym: "familial nonpolyposis colon cancer type 2" EXACT [] synonym: "FCC2" EXACT OMO:0003012 [] synonym: "HNPCC2" EXACT OMO:0003012 [] xref: MIM:609310 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070275 name: hereditary nonpolyposis colorectal cancer type 4 def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8072530] synonym: "HNPCC4" EXACT OMO:0003012 [] xref: MIM:614337 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070276 name: hereditary nonpolyposis colorectal cancer type 7 def: "A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12702580] synonym: "HNPCC7" EXACT OMO:0003012 [] xref: MIM:614385 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070277 name: primary autosomal recessive microcephaly 15 def: "A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34." [url:https\://pubmed.ncbi.nlm.nih.gov/30043326/, url:https\://www.ncbi.nlm.nih.gov/pubmed/26005868] synonym: "MCPH15" EXACT OMO:0003012 [] synonym: "NEDMISBA" EXACT OMO:0003012 [] synonym: "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities" EXACT [] xref: MIM:616486 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070278 name: primary autosomal recessive microcephaly 7 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19215732] synonym: "MCPH7" EXACT OMO:0003012 [] xref: MIM:612703 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070279 name: primary autosomal recessive microcephaly 14 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24951542] synonym: "MCPH14" EXACT OMO:0003012 [] xref: MIM:616402 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070280 name: primary autosomal recessive microcephaly 5 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12355089] synonym: "MCPH5" EXACT OMO:0003012 [] xref: MIM:608716 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070281 name: primary autosomal recessive microcephaly 19 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29036432] synonym: "MCPH19" EXACT OMO:0003012 [] xref: MIM:617800 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070282 name: primary autosomal recessive microcephaly 8 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22521416] synonym: "MCPH8" EXACT OMO:0003012 [] xref: MIM:614673 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070283 name: primary autosomal recessive microcephaly 13 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24748105] synonym: "MCPH13" EXACT OMO:0003012 [] xref: MIM:616051 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070284 name: primary autosomal recessive microcephaly 12 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23918663] synonym: "MCPH12" EXACT OMO:0003012 [] xref: MIM:616080 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070285 name: primary autosomal recessive microcephaly 1 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12046007] synonym: "MCPH1" EXACT OMO:0003012 [] xref: MIM:251200 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070286 name: primary autosomal recessive microcephaly 3 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15793586] synonym: "MCPH3" EXACT OMO:0003012 [] xref: MIM:604804 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070287 name: primary autosomal recessive microcephaly 11 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23418308] synonym: "MCPH11" EXACT OMO:0003012 [] xref: MIM:615414 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070288 name: primary autosomal recessive microcephaly 17 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27453578] synonym: "MCPH17" EXACT OMO:0003012 [] xref: MIM:617090 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070289 name: primary autosomal recessive microcephaly 16 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25259927] synonym: "MCPH16" EXACT OMO:0003012 [] xref: MIM:616681 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070290 name: primary autosomal recessive microcephaly 6 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15793586] synonym: "MCPH6" EXACT OMO:0003012 [] xref: MIM:608393 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070291 name: primary autosomal recessive microcephaly 4 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22983954] synonym: "MCPH4" EXACT OMO:0003012 [] xref: MIM:604321 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070292 name: primary autosomal recessive microcephaly 9 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20598275] synonym: "MCPH9" EXACT OMO:0003012 [] xref: MIM:614852 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070293 name: primary autosomal recessive microcephaly 2 with or without cortical malformations def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20890279] synonym: "MCPH2" EXACT OMO:0003012 [] xref: MIM:604317 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070294 name: primary autosomal recessive microcephaly 10 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23178126] synonym: "MCPH10" EXACT OMO:0003012 [] xref: MIM:615095 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070295 name: primary autosomal dominant microcephaly 18 def: "A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27008544] synonym: "MCPH18" EXACT OMO:0003012 [] xref: MIM:617520 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070297 ! primary microcephaly [Term] id: DOID:0070296 name: primary autosomal recessive microcephaly def: "A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15806441, url:https\://www.ncbi.nlm.nih.gov/pubmed/28912110] subset: DO_rare_slim synonym: "MCPH" EXACT OMO:0003012 [] xref: GARD:12117 xref: MIM:PS251200 xref: ORDO:2512 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070297 ! primary microcephaly [Term] id: DOID:0070297 name: primary microcephaly def: "A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28912110] synonym: "true microcephaly" EXACT [] is_a: DOID:10907 ! microcephaly [Term] id: DOID:0070298 name: multiple epiphyseal dysplasia 2 def: "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8528240] synonym: "EDM2" EXACT OMO:0003012 [] xref: MIM:600204 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070305 ! multiple epiphyseal dysplasia due to collagen 9 anomaly [Term] id: DOID:0070299 name: multiple epiphyseal dysplasia 5 def: "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11479597] subset: DO_rare_slim synonym: "BHMED" EXACT OMO:0003012 [] synonym: "bilateral hereditary microepiphyseal dysplasia" EXACT [] synonym: "EDM5" EXACT OMO:0003012 [] synonym: "multiple epiphyseal dysplasia MATN3-related" EXACT [] xref: GARD:9794 xref: MESH:C535505 xref: MIM:607078 xref: ORDO:93311 xref: SNOMEDCT_US_2023_03_01:715674008 xref: UMLS_CUI:C1846843 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:0070300 name: multiple epiphyseal dysplasia 4 def: "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10465113] subset: DO_rare_slim synonym: "EDM4" EXACT OMO:0003012 [] synonym: "MED4" EXACT OMO:0003012 [] synonym: "multiple epiphyseal dysplasia with bilateral patellae" EXACT [] synonym: "multiple epiphyseal dysplasia with clubfoot" EXACT [] synonym: "Polyepiphyseal dysplasia type 4" EXACT [] synonym: "rMED" EXACT OMO:0003012 [] xref: GARD:9793 xref: MESH:C535504 xref: MIM:226900 xref: ORDO:93307 xref: SNOMEDCT_US_2023_03_01:715672007 xref: UMLS_CUI:C1847593 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:0070301 name: multiple epiphyseal dysplasia 6 def: "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11565064] synonym: "EDM6" EXACT OMO:0003012 [] xref: MIM:614135 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070305 ! multiple epiphyseal dysplasia due to collagen 9 anomaly [Term] id: DOID:0070302 name: multiple epiphyseal dysplasia 7 def: "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28742282] synonym: "EDM7" EXACT OMO:0003012 [] xref: MIM:617719 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:0070303 name: multiple epiphyseal dysplasia 1 def: "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7670471, url:https\://www.ncbi.nlm.nih.gov/pubmed/7670472] subset: DO_rare_slim synonym: "EDM1" EXACT OMO:0003012 [] synonym: "MED1" EXACT OMO:0003012 [] synonym: "multiple epiphyseal dysplasia COMP-related" EXACT [] synonym: "polyepiphyseal dysplasia type 1" EXACT [] xref: GARD:2180 xref: MESH:C535501 xref: MIM:132400 xref: ORDO:93308 xref: SNOMEDCT_US_2023_03_01:715673002 xref: UMLS_CUI:C1838280 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:0070304 name: multiple epiphyseal dysplasia 3 def: "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10090888] synonym: "EDM3" EXACT OMO:0003012 [] synonym: "multiple epiphyseal dysplasia 3 with or without myopathy" EXACT [] xref: MIM:600969 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070305 ! multiple epiphyseal dysplasia due to collagen 9 anomaly [Term] id: DOID:0070305 name: multiple epiphyseal dysplasia due to collagen 9 anomaly def: "A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10090888, url:https\://www.ncbi.nlm.nih.gov/pubmed/11891674] subset: DO_rare_slim xref: ORDO:166002 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:0070306 name: post-cardiac arrest syndrome def: "A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20395899, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=15365608, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=18963350, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=29055751] synonym: "post cardiac syndrome" EXACT [] xref: MESH:D000080942 is_a: DOID:225 ! syndrome [Term] id: DOID:0070307 name: craniolenticulosutural dysplasia def: "A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects." [url:https\://en.wikipedia.org/wiki/Cranio%E2%80%93lenticulo%E2%80%93sutural_dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=16980979, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=29161034] subset: DO_rare_slim synonym: "Boyadjiev-Jabs Syndrome" EXACT [] synonym: "cranio-lenticulo-sutural dysplasia, CLSD" EXACT [] xref: MESH:C564332 xref: MIM:607812 xref: ORDO:50814 xref: SNOMEDCT_US_2023_03_01:725100001 xref: UMLS_CUI:C1843042 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0070308 name: rippling muscle disease 1 def: "A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3697883/] xref: MESH:C535686 xref: MIM:600332 is_a: DOID:66 ! muscle tissue disease created_by: apujar [Term] id: DOID:0070309 name: absence epilepsy def: "An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram." [url:https\://www.ncbi.nlm.nih.gov/articles/PMC3697883/, url:https\://www.ncbi.nlm.nih.gov/pubmed/15800200] xref: MESH:D004832 is_a: DOID:0050701 ! electroclinical syndrome [Term] id: DOID:0070310 name: drug-induced hearing loss def: "A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity." [url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=20301595, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=25629145, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=29471610] synonym: "drug induced hearing loss" EXACT [] is_a: DOID:0050563 ! nonsyndromic deafness [Term] id: DOID:0070311 name: oligoasthenoteratozoospermia def: "A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility." [url:https\://en.wiktionary.org/wiki/oligoasthenoteratozoospermia, url:https\://www.ncbi.nlm.nih.gov/pubmed/23628110, url:https\://www.ncbi.nlm.nih.gov/pubmed/25781171] synonym: "OAT" EXACT OMO:0003012 [] synonym: "oligoasthenoteratospermia" EXACT [] is_a: DOID:12336 ! male infertility [Term] id: DOID:0070312 name: obsolete Peters-Plus Syndrome def: "A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip or palate, and variable developmental delay or intellectual disability." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25544610] is_obsolete: true [Term] id: DOID:0070313 name: thiamine deficiency disease def: "A nutritional deficiency disease that is characterized by low levels of thiamine." [url:https\://en.wikipedia.org/wiki/Thiamine_deficiency] subset: NCIthesaurus xref: NCI:C34418 xref: SNOMEDCT_US_2021_09_01:399357009 is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:0070314 name: obstructive nephropathy def: "A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction." [url:https\://en.wikipedia.org/wiki/Obstructive_uropathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/24023768, url:https\://www.ncbi.nlm.nih.gov/pubmed/25402279, url:https\://www.ncbi.nlm.nih.gov/pubmed/26667236] subset: NCIthesaurus synonym: "CON" EXACT OMO:0003012 [] synonym: "congenital obstructive nephropathy" EXACT [] xref: NCI:C120902 xref: SNOMEDCT_US_2023_03_01:86249007 xref: UMLS_CUI:C0149939 is_a: DOID:557 ! kidney disease created_by: apujar [Term] id: DOID:0070315 name: hypoplastic right heart syndrome def: "A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24932961, url:https\://www.ncbi.nlm.nih.gov/pubmed/28009100] subset: DO_rare_slim subset: NCIthesaurus synonym: "Right hypoplastic heart syndrome" EXACT [] xref: GARD:2922 xref: ICD10CM:Q22.6 xref: NCI:C99053 xref: SNOMEDCT_US_2023_03_01:204348000 xref: UMLS_CUI:C0344963 is_a: DOID:1682 ! congenital heart disease created_by: apujar [Term] id: DOID:0070316 name: Miura type epiphyseal chondrodysplasia def: "A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24057292, url:https\://www.ncbi.nlm.nih.gov/pubmed/24259409] subset: DO_rare_slim synonym: "ECDM" EXACT OMO:0003012 [] synonym: "tall stature-scoliosis-macrodactyly of the great toes syndrome" EXACT [] synonym: "tall stature-scoliosis-macrodactyly of the halluces syndrome" EXACT [] xref: MIM:615923 xref: ORDO:329191 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080006 ! bone development disease created_by: apujar [Term] id: DOID:0070317 name: wet beriberi def: "A beriberi that is located_in the cardiovascular system and has_symptom increased heart rate, swelling of lower legs, and shortness of breath." [url:https\://en.wikipedia.org/wiki/Thiamine_deficiency, url:https\://medlineplus.gov/ency/article/000339.htm, url:https\://rarediseases.info.nih.gov/diseases/9948/beriberi] subset: DO_rare_slim xref: GARD:9948 xref: ICD10CM:E51.12 xref: SNOMEDCT_US_2021_09_01:67360000 is_a: DOID:13725 ! beriberi [Term] id: DOID:0070318 name: dry beriberi def: "A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting." [url:https\://en.wikipedia.org/wiki/Thiamine_deficiency, url:https\://medlineplus.gov/ency/article/000339.htm, url:https\://rarediseases.info.nih.gov/diseases/9948/beriberi] subset: DO_rare_slim xref: GARD:9948 xref: ICD10CM:E51.11 xref: SNOMEDCT_US_2021_09_01:71021002 is_a: DOID:13725 ! beriberi [Term] id: DOID:0070319 name: miliaria pustulosa def: "A miliaria that is characterized by pustules resulting from inflammation and bacterial infection." [url:http\://www.pathologyoutlines.com/topic/skinnontumormiliaria.html, url:https\://en.wikipedia.org/wiki/Miliaria, url:https\://www.ncbi.nlm.nih.gov/books/NBK537176/] xref: SNOMEDCT_US_2021_09_01:26988005 is_a: DOID:1382 ! miliaria [Term] id: DOID:0070320 name: miliaria profunda def: "A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash." [url:http\://www.pathologyoutlines.com/topic/skinnontumormiliaria.html, url:https\://en.wikipedia.org/wiki/Miliaria, url:https\://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html, url:https\://www.ncbi.nlm.nih.gov/books/NBK537176/] xref: ICD10CM:L74.2 xref: SNOMEDCT_US_2020_03_01:47317002 is_a: DOID:1382 ! miliaria [Term] id: DOID:0070321 name: miliaria crystallina def: "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum." [url:http\://www.pathologyoutlines.com/topic/skinnontumormiliaria.html, url:https\://en.wikipedia.org/wiki/Miliaria, url:https\://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html, url:https\://www.ncbi.nlm.nih.gov/books/NBK537176/] xref: ICD10CM:L74.1 xref: SNOMEDCT_US_2021_09_01:44279002 is_a: DOID:1382 ! miliaria [Term] id: DOID:0070322 name: childhood hepatocellular carcinoma def: "A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17714939, url:https\://www.ncbi.nlm.nih.gov/pubmed/28144610, url:https\://www.ncbi.nlm.nih.gov/pubmed/30254403] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "pediatric hepatocellular carcinoma" EXACT [] xref: GARD:9331 xref: NCI:C7955 xref: ORDO:33402 is_a: DOID:684 ! hepatocellular carcinoma [Term] id: DOID:0070323 name: childhood acute myeloid leukemia def: "A childhood leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells." [url:http\://www.danafarberbostonchildrens.org/conditions/leukemia-and-lymphoma/acute-myelogenous-leukemia.aspx, url:https\://en.wikipedia.org/wiki/Acute_myeloid_leukemia, url:https\://www.cancer.gov/types/leukemia/patient/child-aml-treatment-pdq] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood acute myeloid leukaemia" EXACT [] synonym: "paediatric acute myeloid leukaemia" EXACT [] synonym: "pediatric acute myeloid leukemia" EXACT [] xref: ICDO:9861/3 xref: NCI:C9160 is_a: DOID:7757 ! childhood leukemia [Term] id: DOID:0070324 name: systemic Epstein-Barr virus positive T-cell lymphoma of childhood def: "A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood." [url:https\://en.wikipedia.org/wiki/Epstein-Barr_virus-associated_lymphoproliferative_diseases, url:https\://www.ncbi.nlm.nih.gov/pubmed/30931288] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: DO_rare_slim synonym: "EBV-positive T-cell lymphoproliferative disorder of childhood" EXACT [] synonym: "systemic EBV-positive T-cell lymphoma of childhood" EXACT [] xref: ICDO:9724/3 xref: ORDO:364033 xref: SNOMEDCT_US_2023_03_01:721311006 xref: UMLS_CUI:C4303422 is_a: DOID:5823 ! childhood lymphoma [Term] id: DOID:0070325 name: malignant childhood adrenal gland pheochromocytoma def: "An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28324046, url:https\://www.ncbi.nlm.nih.gov/pubmed/28752085] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "malignant pediatric adrenal gland pheochromocytoma" EXACT [] xref: GARD:9368 xref: NCI:C118822 is_a: DOID:0050892 ! adrenal gland pheochromocytoma [Term] id: DOID:0070326 name: spitzoid melanoma def: "A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377413/, url:https\://www.ncbi.nlm.nih.gov/pubmed/25666674, url:https\://www.ncbi.nlm.nih.gov/pubmed/25834363] subset: DO_cancer_slim subset: NCIthesaurus synonym: "atypical spitz nevus" EXACT [] xref: NCI:C136825 is_a: DOID:8923 ! skin melanoma [Term] id: DOID:0070327 name: melanoma in congenital melanocytic nevus def: "A skin melanoma that arises from a congenital melanocytic nevus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27517357, url:https\://www.ncbi.nlm.nih.gov/pubmed/28078671] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Malignant melanoma in congenital melanocytic nevus" EXACT [] synonym: "melanocytic nevi" EXACT [] xref: GARD:2469 xref: ICDO:8761/3 xref: NCI:C48613 xref: UMLS_CUI:C1711221 is_a: DOID:8923 ! skin melanoma [Term] id: DOID:0070328 name: adult hepatocellular carcinoma def: "A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation." [url:https\://www.cancer.gov/types/liver/patient/about-adult-liver-cancer-pdq, url:https\://www.ncbi.nlm.nih.gov/pubmed/25979220, url:https\://www.ncbi.nlm.nih.gov/pubmed/28761617, url:https\://www.ncbi.nlm.nih.gov/pubmed/30254403] subset: DO_rare_slim subset: NCIthesaurus synonym: "adult hepatoma" EXACT [] synonym: "adult primary hepatocellular carcinoma" EXACT [] xref: NCI:C7956 xref: ORDO:210159 xref: SNOMEDCT_US_2023_03_01:1197204009 xref: UMLS_CUI:C0279607 is_a: DOID:684 ! hepatocellular carcinoma [Term] id: DOID:0070329 name: mitochondrial DNA depletion syndrome def: "A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs." [url:https\://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/28215579, url:https\://www.ncbi.nlm.nih.gov/pubmed/29344903, url:https\://www.ncbi.nlm.nih.gov/pubmed/29950321] subset: DO_rare_slim synonym: "mtDNA depletion syndrome" EXACT [] xref: GARD:13643 xref: MIM:PS603041 xref: ORDO:35698 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0070330 name: multiple mitochondrial dysfunctions syndrome def: "A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of energy production resulting from mitochondria impairment." [url:https\://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/24462711, url:https\://www.ncbi.nlm.nih.gov/pubmed/28161430] subset: DO_rare_slim synonym: "fatal multiple mitochondrial dysfunction syndrome" EXACT [] xref: GARD:12632 xref: MESH:C565304 xref: MIM:PS605711 xref: ORDO:289573 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0070331 name: mitochondrial DNA depletion syndrome 8b def: "A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28215579, url:https\://www.ncbi.nlm.nih.gov/pubmed/30373120] synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related" EXACT [] xref: MESH:C536350 xref: MIM:612075 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0070332 name: multiple mitochondrial dysfunctions syndrome 6 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB gene on chromosome 7q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29576218] xref: MIM:617954 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome [Term] id: DOID:0070333 name: breast implant-associated anaplastic large cell lymphoma def: "A peripheral T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule." [url:https\://www.fda.gov/medical-devices/breast-implants/questions-and-answers-about-breast-implant-associated-anaplastic-large-cell-lymphoma-bia-alcl, url:https\://www.ncbi.nlm.nih.gov/pubmed/31166611, url:https\://www.ncbi.nlm.nih.gov/pubmed/31642879] is_a: DOID:0050749 ! peripheral T-cell lymphoma [Term] id: DOID:0070334 name: vegetable allergy def: "A food allergy triggered by a vegetable food product." [url:https\://farrp.unl.edu/informallvegetables] subset: DO_IEDB_slim is_a: DOID:3044 ! food allergy [Term] id: DOID:0070335 name: celery allergy def: "A vegetable allergy triggered by celery (Apium graveolens)." [url:https\://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?lvl=0&id=4045] subset: DO_IEDB_slim is_a: DOID:0070334 ! vegetable allergy [Term] id: DOID:0070336 name: arthrogryposis multiplex congenita-6 def: "An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23." [url:https\://pubmed.ncbi.nlm.nih.gov/33376055/] xref: MIM:619334 is_a: DOID:0080954 ! arthrogryposis multiplex congenita [Term] id: DOID:0070337 name: epithelial recurrent erosion dystrophy def: "An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity." [url:https\://www.omim.org/entry/122400] synonym: "COL17A1" EXACT OMO:0003012 [] synonym: "ERED" EXACT OMO:0003012 [] xref: MESH:C565155 xref: MIM:122400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060440 ! epithelial and subepithelial dystrophy [Term] id: DOID:0070338 name: cerebellar hypoplasia def: "A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed." [url:https\://en.wikipedia.org/wiki/Cerebellar_hypoplasia, url:https\://www.ninds.nih.gov/health-information/disorders/cerebellar-hypoplasia] subset: DO_rare_slim xref: GARD:1194 xref: MESH:C562568 is_a: DOID:2786 ! cerebellar disease property_value: exactMatch "MESH:C562568" xsd:string [Term] id: DOID:0070339 name: cerebellar hyplasia/atrophy, epilepsy, and global developmental delay def: "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." [url:https\://pubmed.ncbi.nlm.nih.gov/31785787/] subset: DO_rare_slim xref: MIM:213000 xref: ORDO:2246 is_a: DOID:225 ! syndrome [Term] id: DOID:0070340 name: classic citrullinemia def: "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34." [url:https\://www.omim.org/entry/215700] xref: MIM:215700 is_a: DOID:9273 ! citrullinemia [Term] id: DOID:0070341 name: neonatal-onset type II citrullinemia def: "A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene." [url:https\://www.omim.org/entry/605814] synonym: "neonatal-onset type 2 citrullinemia" EXACT [] xref: MIM:605814 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9273 ! citrullinemia [Term] id: DOID:0070342 name: adult-onset type II citrullinemia def: "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21." [url:https\://www.omim.org/entry/603471?search=603471] synonym: "citrin deficiency" EXACT [] xref: MIM:603471 is_a: DOID:9273 ! citrullinemia [Term] id: DOID:0070343 name: CSF1R-related brain malformation and osteopetrosis def: "A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life." [url:https\://www.ncbi.nlm.nih.gov/articles/PMC6506793/] synonym: "osteoporosis and infantile neuroaxonal dystrophy" EXACT [] xref: MIM:600329 is_a: DOID:2367 ! neuroaxonal dystrophy [Term] id: DOID:0070344 name: ocular tuberculosis def: "A tuberculosis that is located_in some eye, has_material_basis_in Mycobacterium tuberculosis, and has_symptom inflamed eyes." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664543/] subset: DO_infectious_disease_slim is_a: DOID:399 ! tuberculosis is_a: DOID:5614 ! eye disease [Term] id: DOID:0070345 name: vertebral anomalies and variable endocrine and T-cell dysfunction def: "A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29726930] synonym: "heterozygotes for TBX2 variants" EXACT [] xref: MIM:618223 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0070346 name: neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies def: "A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/618571] xref: MIM:618571 is_a: DOID:225 ! syndrome [Term] id: DOID:0070347 name: encephalopathy due to defective mitochondrial and peroxisomal fission 1 def: "A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30850373] xref: MIM:614388 is_a: DOID:225 ! syndrome [Term] id: DOID:0070348 name: spinal muscular atrophy with lower extremity predominant def: "A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles." [url:https\://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-lower-extremity-predominance] synonym: "spinal muscular atrophy with lower extremity predominance" EXACT [] xref: MIM:PS158600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0070349 name: spinal muscular atrophy with lower extremity predominant 2A def: "A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22." [url:https\://pubmed.ncbi.nlm.nih.gov/23664120/] synonym: "spinal muscular atrophy with lower extremity predominance 2A" EXACT [] xref: MIM:615290 is_a: DOID:0070348 ! spinal muscular atrophy with lower extremity predominant [Term] id: DOID:0070350 name: spinal muscular atrophy with lower extremity predominant 2B def: "A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22." [url:https\://pubmed.ncbi.nlm.nih.gov/28635954/] synonym: "spinal muscular atrophy with lower extremity predominance 2B" EXACT [] xref: MIM:618291 is_a: DOID:0070348 ! spinal muscular atrophy with lower extremity predominant [Term] id: DOID:0070351 name: spinal muscular atrophy with lower extremity predominant 1 def: "A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32." [url:https\://pubmed.ncbi.nlm.nih.gov/20697106/] synonym: "spinal muscular atrophy with lower extremity predominance 1" EXACT [] xref: MIM:158600 is_a: DOID:0070348 ! spinal muscular atrophy with lower extremity predominant [Term] id: DOID:0070352 name: stress-induced childhood-onset neurodegeneration with variable ataxia and seizures def: "A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30100084, url:https\://www.omim.org/entry/618170] synonym: "CONDSIAS" EXACT OMO:0003012 [] xref: MIM:618170 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:0070353 name: cataract 47 def: "A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea." [url:https\://www.omim.org/entry/612018] synonym: "CTRCT47" EXACT OMO:0003012 [] xref: MIM:612018 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0070354 name: cataract 48 def: "A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30290152, url:https\://www.omim.org/entry/618415] synonym: "CTRCT48" EXACT OMO:0003012 [] xref: MIM:618415 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0070355 name: overactive bladder syndrome def: "A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia." [url:https\://pubmed.ncbi.nlm.nih.gov/11857671/, url:https\://pubmed.ncbi.nlm.nih.gov/19937315/] synonym: "OAB" EXACT OMO:0003012 [] synonym: "overactive bladder" EXACT [] synonym: "urge syndrome" EXACT [] synonym: "urgency-frequency syndrome" EXACT [] xref: ICD10CM:N32.81 xref: ICD9CM:596.51 xref: MESH:D053201 xref: SNOMEDCT_US_2023_03_01:236633002 xref: UMLS_CUI:C0878773 is_a: DOID:225 ! syndrome is_a: DOID:365 ! bladder disease [Term] id: DOID:0070356 name: visual impairment and progressive phthisis bulbi def: "An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3." [url:https\://en.wikipedia.org/wiki/Phthisis_bulbi, url:https\://www.ncbi.nlm.nih.gov/pubmed/29771303, url:https\://www.uniprot.org/diseases/DI-05463] xref: MESH:D005128 xref: MIM:618283 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5614 ! eye disease [Term] id: DOID:0070357 name: nephrotic syndrome type 20 def: "A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31732614, url:https\://www.omim.org/entry/301028] xref: MIM:301028 is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0070358 name: primary biliary cholangitis 1 def: "A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33." [url:https\://pubmed.ncbi.nlm.nih.gov/19458352/] synonym: "BILIARY CIRRHOSIS, PRIMARY, 1" EXACT [] synonym: "PBC1" EXACT OMO:0003012 [] xref: MIM:109720 is_a: DOID:12236 ! primary biliary cholangitis [Term] id: DOID:0070359 name: primary biliary cholangitis 2 def: "A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/19458352/] synonym: "BILIARY CIRRHOSIS, PRIMARY, 2" EXACT [] synonym: "PBC2" EXACT OMO:0003012 [] xref: MIM:613007 is_a: DOID:12236 ! primary biliary cholangitis [Term] id: DOID:0070360 name: primary biliary cholangitis 3 def: "A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2." [url:https\://pubmed.ncbi.nlm.nih.gov/19458352/] synonym: "BILIARY CIRRHOSIS, PRIMARY, 3" EXACT [] synonym: "PBC3" EXACT OMO:0003012 [] xref: MIM:613008 is_a: DOID:12236 ! primary biliary cholangitis [Term] id: DOID:0070361 name: primary biliary cholangitis 4 def: "A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32." [url:https\://pubmed.ncbi.nlm.nih.gov/20639879/] synonym: "BILIARY CIRRHOSIS, PRIMARY, 4" EXACT [] synonym: "PBC4" EXACT OMO:0003012 [] xref: MIM:614220 is_a: DOID:12236 ! primary biliary cholangitis [Term] id: DOID:0070362 name: primary biliary cholangitis 5 def: "A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21." [url:https\://pubmed.ncbi.nlm.nih.gov/20639879/] synonym: "BILIARY CIRRHOSIS, PRIMARY, 5" EXACT [] synonym: "PBC5" EXACT OMO:0003012 [] xref: MIM:614221 is_a: DOID:12236 ! primary biliary cholangitis [Term] id: DOID:0070363 name: bradyopsia 1 def: "A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24." [url:https\://pubmed.ncbi.nlm.nih.gov/19818506/, url:https\://www.omim.org/entry/608415] synonym: "prolonged electroretinal response suppression 1" EXACT [] xref: MIM:608415 is_a: DOID:0050335 ! bradyopsia property_value: exactMatch "MIM:608415" xsd:string [Term] id: DOID:0070364 name: bradyopsia 2 def: "A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/19818506/, url:https\://www.omim.org/entry/620344] synonym: "prolonged electroretinal response suppression 2" EXACT [] xref: MIM:620344 is_a: DOID:0050335 ! bradyopsia property_value: exactMatch "MIM:620344" xsd:string [Term] id: DOID:0070365 name: nevoid basal cell carcinoma syndrome 1 def: "A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22." [url:https\://pubmed.ncbi.nlm.nih.gov/8658145/, url:https\://www.omim.org/entry/109400] synonym: "basal cell nevus syndrome 1" EXACT [] xref: MIM:109400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2512 ! nevoid basal cell carcinoma syndrome property_value: exactMatch "MIM:109400" xsd:string [Term] id: DOID:0070366 name: nevoid basal cell carcinoma syndrome 2 def: "A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24." [url:https\://pubmed.ncbi.nlm.nih.gov/19533801/, url:https\://www.omim.org/entry/620343] synonym: "basal cell nevus syndrome 2" EXACT [] xref: MIM:620343 is_a: DOID:2512 ! nevoid basal cell carcinoma syndrome property_value: exactMatch "MIM:620343" xsd:string [Term] id: DOID:0070367 name: leukoencephalopathy with vanishing white matter 5 def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27." [url:https\://pubmed.ncbi.nlm.nih.gov/12325082/, url:https\://pubmed.ncbi.nlm.nih.gov/34745209/, url:https\://www.omim.org/entry/620315] comment: 'Cree leukoencephalopathy' synonym included in this subtype because of genetic link. The severity of this disease remains variable [JAB]. subset: DO_rare_slim synonym: "Cree leukoencephalopathy" EXACT [] xref: MIM:620315 xref: ORDO:99854 is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter property_value: exactMatch "MIM:620315" xsd:string property_value: exactMatch "ORDO:99854" xsd:string [Term] id: DOID:0070368 name: autosomal recessive chronic granulomatous disease 5 def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25." [url:https\://pubmed.ncbi.nlm.nih.gov/30312704/, url:https\://pubmed.ncbi.nlm.nih.gov/30361506/] xref: MIM:618935 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070369 name: restrictive dermopathy 1 def: "A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15317753, url:https\://www.ncbi.nlm.nih.gov/pubmed/20101687] xref: MIM:275210 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060762 ! restrictive dermopathy property_value: exactMatch "MIM:275210" xsd:string [Term] id: DOID:0070370 name: restrictive dermopathy 2 def: "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." [url:https\://pubmed.ncbi.nlm.nih.gov/15317753/] xref: MIM:619793 is_a: DOID:0060762 ! restrictive dermopathy property_value: exactMatch "MIM:619793" xsd:string [Term] id: DOID:0070371 name: leukoencephalopathy with vanishing white matter 4 def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23." [url:https\://pubmed.ncbi.nlm.nih.gov/34745209/, url:https\://www.omim.org/entry/620314] xref: MIM:620314 is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter property_value: exactMatch "MIM:620314" xsd:string [Term] id: DOID:0070372 name: leukoencephalopathy with vanishing white matter 3 def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34." [url:https\://pubmed.ncbi.nlm.nih.gov/34745209/, url:https\://www.omim.org/entry/620313] xref: MIM:620313 is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter property_value: exactMatch "MIM:620313" xsd:string [Term] id: DOID:0070373 name: leukoencephalopathy with vanishing white matter 2 def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24." [url:https\://pubmed.ncbi.nlm.nih.gov/34745209/, url:https\://www.omim.org/entry/620312] xref: MIM:620312 is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter property_value: exactMatch "MIM:620312" xsd:string [Term] id: DOID:0070374 name: leukoencephalopathy with vanishing white matter 1 def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24." [url:https\://pubmed.ncbi.nlm.nih.gov/34745209/, url:https\://www.omim.org/entry/603896] xref: MIM:603896 is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter property_value: exactMatch "MIM:603896" xsd:string [Term] id: DOID:0070375 name: developmental and epileptic encephalopathy 64 def: "A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21." [url:https\://pubmed.ncbi.nlm.nih.gov/29276004/, url:https\://pubmed.ncbi.nlm.nih.gov/29768694/, url:https\://pubmed.ncbi.nlm.nih.gov/33504645/, url:https\://pubmed.ncbi.nlm.nih.gov/37090824/] synonym: "DEE64" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 64" EXACT [] xref: MIM:618004 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070376 name: developmental and epileptic encephalopathy 31B def: "A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34." [url:https\://pubmed.ncbi.nlm.nih.gov/34172529/] synonym: "DEE31B" EXACT OMO:0003012 [] xref: MIM:620352 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070377 name: developmental and epileptic encephalopathy 96 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21." [url:https\://pubmed.ncbi.nlm.nih.gov/31675180/] synonym: "DEE96" EXACT OMO:0003012 [] xref: MIM:619340 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070378 name: developmental and epileptic encephalopathy 109 def: "A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/34788397/] synonym: "DEE109" EXACT OMO:0003012 [] xref: MIM:620145 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070379 name: developmental and epileptic encephalopathy 6B def: "A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. This disease has the same genetic basis as Dravet syndrome (DOID:0080422) but is more severe." [url:https\://pubmed.ncbi.nlm.nih.gov/28794249/] synonym: "DEE6B" EXACT OMO:0003012 [] xref: MIM:619317 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070380 name: developmental and epileptic encephalopathy 85 def: "A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11." [url:https\://pubmed.ncbi.nlm.nih.gov/28166369/, url:https\://pubmed.ncbi.nlm.nih.gov/31334757/] synonym: "DEE85" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 85" EXACT [] xref: MIM:301044 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070381 name: developmental and epileptic encephalopathy 90 def: "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26." [url:https\://pubmed.ncbi.nlm.nih.gov/33245860/] synonym: "DEE90" EXACT OMO:0003012 [] xref: MIM:301058 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070382 name: developmental and epileptic encephalopathy 95 def: "A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11." [url:https\://pubmed.ncbi.nlm.nih.gov/30269814/] synonym: "DEE95" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 95" EXACT [] xref: MIM:618143 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070383 name: developmental and epileptic encephalopathy 97 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14." [url:https\://pubmed.ncbi.nlm.nih.gov/33131106/] synonym: "DEE97" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 97" EXACT [] xref: MIM:619561 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070384 name: developmental and epileptic encephalopathy 98 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23." [url:https\://pubmed.ncbi.nlm.nih.gov/33880529/] synonym: "DEE98" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 98" EXACT [] xref: MIM:619605 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070385 name: developmental and epileptic encephalopathy 99 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/33880529/] synonym: "DEE99" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 99" EXACT [] xref: MIM:619606 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070386 name: developmental and epileptic encephalopathy 100 def: "A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42." [url:https\://pubmed.ncbi.nlm.nih.gov/33280099/] synonym: "DEE100" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 100" EXACT [] xref: MIM:619777 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070387 name: developmental and epileptic encephalopathy 101 def: "A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34." [url:https\://pubmed.ncbi.nlm.nih.gov/34611970/] synonym: "DEE101" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 101" EXACT [] xref: MIM:619814 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070388 name: developmental and epileptic encephalopathy 102 def: "A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21." [url:https\://pubmed.ncbi.nlm.nih.gov/34605855/] synonym: "DEE102" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 102" EXACT [] xref: MIM:619881 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070389 name: developmental and epileptic encephalopathy 103 def: "A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21." [url:https\://pubmed.ncbi.nlm.nih.gov/35314505/] synonym: "DEE103" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 103" EXACT [] xref: MIM:619913 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070390 name: developmental and epileptic encephalopathy 104 def: "A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21." [url:https\://pubmed.ncbi.nlm.nih.gov/34909687/] synonym: "DEE104" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 104" EXACT [] xref: MIM:619970 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070391 name: developmental and epileptic encephalopathy 105 def: "A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25." [url:https\://pubmed.ncbi.nlm.nih.gov/33999436/] synonym: "DEE105" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 105" EXACT [] xref: MIM:619983 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070392 name: developmental and epileptic encephalopathy 106 def: "A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35." [url:https\://pubmed.ncbi.nlm.nih.gov/33473208/] synonym: "DEE106" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 106" EXACT [] xref: MIM:620028 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070393 name: developmental and epileptic encephalopathy 107 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11." [url:https\://pubmed.ncbi.nlm.nih.gov/26235277/, url:https\://pubmed.ncbi.nlm.nih.gov/28097321/, url:https\://pubmed.ncbi.nlm.nih.gov/33189936/] synonym: "DEE107" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 107" EXACT [] xref: MIM:620033 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070394 name: developmental and epileptic encephalopathy 108 def: "A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/34185323/, url:https\://pubmed.ncbi.nlm.nih.gov/35095415/] synonym: "DEE108" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 108" EXACT [] xref: MIM:620115 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070395 name: developmental and epileptic encephalopathy 110 def: "A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21." [url:https\://pubmed.ncbi.nlm.nih.gov/35293990/] synonym: "DEE110" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 110" EXACT [] xref: MIM:620149 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070396 name: progressive leukoencephalopathy with ovarian failure def: "An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21." [url:https\://pubmed.ncbi.nlm.nih.gov/24808023/] synonym: "ovarioleukodystrophy" RELATED [] xref: MIM:615889 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10579 ! leukodystrophy property_value: exactMatch "MIM:615889" xsd:string property_value: relatedMatch "ORDO:99853" xsd:string [Term] id: DOID:0070397 name: hypomyelinating leukodystrophy 23 def: "A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life." [url:https\://pubmed.ncbi.nlm.nih.gov/33964137/] synonym: "HLD23" EXACT OMO:0003012 [] xref: MIM:619688 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0070398 name: hypomyelinating leukodystrophy 15 def: "A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41." [url:https\://pubmed.ncbi.nlm.nih.gov/29576217/] synonym: "HLD15" EXACT OMO:0003012 [] xref: MIM:617951 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0070399 name: hypomyelinating leukodystrophy 18 def: "A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42." [url:https\://pubmed.ncbi.nlm.nih.gov/30620337/] synonym: "HLD18" EXACT OMO:0003012 [] xref: MIM:618404 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0070400 name: hypomyelinating leukodystrophy 19 def: "A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42." [url:https\://pubmed.ncbi.nlm.nih.gov/31587869/, url:https\://pubmed.ncbi.nlm.nih.gov/33785861/] synonym: "HLD19" EXACT OMO:0003012 [] xref: MIM:618688 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0070401 name: hypomyelinating leukodystrophy 25 def: "A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21." [url:https\://pubmed.ncbi.nlm.nih.gov/35455965/, url:https\://pubmed.ncbi.nlm.nih.gov/35953447/] synonym: "HLD25" EXACT OMO:0003012 [] xref: MIM:620243 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0070402 name: hypomyelinating leukodystrophy 22 def: "A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26." [url:https\://pubmed.ncbi.nlm.nih.gov/33313762/] synonym: "HLD22" EXACT OMO:0003012 [] xref: MIM:619328 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0070403 name: hypomyelinating leukodystrophy 26 def: "A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21." [url:https\://pubmed.ncbi.nlm.nih.gov/35325049/] synonym: "HLD26" EXACT OMO:0003012 [] xref: MIM:620269 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0070404 name: hypomyelinating leukodystrophy 17 def: "A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22." [url:https\://pubmed.ncbi.nlm.nih.gov/29215095/, url:https\://pubmed.ncbi.nlm.nih.gov/35140751/] synonym: "HLD17" EXACT OMO:0003012 [] xref: MIM:618006 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0070405 name: hypomyelinating leukodystrophy 16 def: "A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21." [url:https\://pubmed.ncbi.nlm.nih.gov/29186371/] synonym: "HLD16" EXACT OMO:0003012 [] xref: MIM:617964 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0070406 name: hypomyelinating leukodystrophy 24 def: "A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34." [url:https\://pubmed.ncbi.nlm.nih.gov/34403372/] synonym: "HLD24" EXACT OMO:0003012 [] xref: MIM:619851 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0070407 name: hypomyelinating leukodystrophy 21 def: "A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13." [url:https\://pubmed.ncbi.nlm.nih.gov/30584594/] synonym: "HLD21" EXACT OMO:0003012 [] xref: MIM:619310 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0070408 name: Hengel-Maroofian-Schols syndrome def: "A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23." [url:https\://pubmed.ncbi.nlm.nih.gov/34022130/] xref: MIM:619641 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome property_value: exactMatch "MIM:619641" xsd:string [Term] id: DOID:0070409 name: autosomal recessive spinocerebellar ataxia 28 def: "An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33." [url:https\://pubmed.ncbi.nlm.nih.gov/31168944/] synonym: "SCAR28" EXACT OMO:0003012 [] xref: MIM:618800 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0070410 name: autosomal recessive spinocerebellar ataxia 29 def: "An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14." [url:https\://pubmed.ncbi.nlm.nih.gov/33764426/] synonym: "SCAR29" EXACT OMO:0003012 [] xref: MIM:619389 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0070411 name: autosomal recessive spinocerebellar ataxia 30 def: "An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15." [url:https\://pubmed.ncbi.nlm.nih.gov/29764912/] synonym: "SCAR30" EXACT OMO:0003012 [] xref: MIM:619405 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0070412 name: autosomal recessive spinocerebellar ataxia 31 def: "An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25." [url:https\://pubmed.ncbi.nlm.nih.gov/34161705/] synonym: "SCAR31" EXACT OMO:0003012 [] xref: MIM:619422 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0070413 name: autosomal recessive spinocerebellar ataxia 32 def: "An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26." [url:https\://pubmed.ncbi.nlm.nih.gov/33889951/] synonym: "SCAR32" EXACT OMO:0003012 [] xref: MIM:619862 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0070414 name: autosomal recessive spinocerebellar ataxia 33 def: "An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13." [url:https\://pubmed.ncbi.nlm.nih.gov/27863452/] synonym: "SCAR33" EXACT OMO:0003012 [] xref: MIM:620208 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0070415 name: brachycephaly, trichomegaly, and developmental delay def: "A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14." [url:https\://pubmed.ncbi.nlm.nih.gov/28257692/] synonym: "BTDD" EXACT OMO:0003012 [] synonym: "Macinnes syndrome" EXACT [] synonym: "MCINS" EXACT OMO:0003012 [] xref: MIM:617412 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0070416 name: Luo-Schoch-Yamamoto syndrome def: "A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25." [url:https\://pubmed.ncbi.nlm.nih.gov/33864376/] synonym: "LUSYAM" EXACT OMO:0003012 [] xref: MIM:619460 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070417 name: neurodevelopmental disorder with speech impairment and dysmorphic facies def: "A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11." [url:https\://pubmed.ncbi.nlm.nih.gov/32346159/] synonym: "NEDSID" EXACT OMO:0003012 [] xref: MIM:619056 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070418 name: vertebral hypersegmentation and orofacial anomalies def: "A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13." [url:https\://pubmed.ncbi.nlm.nih.gov/31215115/] synonym: "VHO" EXACT OMO:0003012 [] xref: MIM:619122 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0070419 name: acrocardiofacial syndrome def: "A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit." [url:https\://pubmed.ncbi.nlm.nih.gov/20920258] subset: DO_rare_slim synonym: "cleft palate, cardiac defect, genital anomalies, and ectrodactyly" EXACT [] synonym: "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome" EXACT [] xref: GARD:1167 xref: MESH:C563936 xref: MIM:600460 xref: ORDO:2008 is_a: DOID:225 ! syndrome [Term] id: DOID:0070420 name: developmental delay, hypotonia, and impaired language def: "An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31." [url:https\://pubmed.ncbi.nlm.nih.gov/35395208/] synonym: "DEDHIL" EXACT OMO:0003012 [] xref: MIM:620012 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070421 name: neurodevelopmental disorder with spasticity and poor growth def: "An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23." [url:https\://pubmed.ncbi.nlm.nih.gov/29868776/] synonym: "NEDSG" EXACT OMO:0003012 [] xref: MIM:618076 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0070422 name: syndromic X-linked intellectual disability Pilorge type def: "A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22." [url:https\://pubmed.ncbi.nlm.nih.gov/35294868/] synonym: "MRXSP" EXACT OMO:0003012 [] xref: MIM:301076 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0070423 name: early onset progressive encephalopathy with brain atrophy and thin corpus callosum def: "An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25." [url:https\://pubmed.ncbi.nlm.nih.gov/27666370/, url:https\://pubmed.ncbi.nlm.nih.gov/27666374/, url:https\://pubmed.ncbi.nlm.nih.gov/36527993/] subset: DO_rare_slim synonym: "early-onset progressive encephalopathy with brain atrophy and thin corpus callosum" EXACT [] synonym: "PEBAT" EXACT OMO:0003012 [] xref: MIM:617193 xref: ORDO:496641 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0070424 name: combined oxidative phosphorylation deficiency 44 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33." [url:https\://pubmed.ncbi.nlm.nih.gov/31944455/, url:https\://pubmed.ncbi.nlm.nih.gov/36531759/] subset: DO_rare_slim synonym: "COXPD44" EXACT OMO:0003012 [] xref: MIM:618855 xref: ORDO:166105 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency property_value: exactMatch "MIM:618855" xsd:string property_value: exactMatch "ORDO:166105" xsd:string [Term] id: DOID:0070425 name: combined oxidative phosphorylation deficiency 52 def: "A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11." [url:https\://pubmed.ncbi.nlm.nih.gov/24498631/, url:https\://pubmed.ncbi.nlm.nih.gov/33457206/] synonym: "COXPD52" EXACT OMO:0003012 [] xref: MIM:619386 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency property_value: exactMatch "MIM:619386" xsd:string [Term] id: DOID:0070426 name: combined oxidative phosphorylation deficiency 53 def: "A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33." [url:https\://pubmed.ncbi.nlm.nih.gov/33945503/, url:https\://pubmed.ncbi.nlm.nih.gov/34038740/] synonym: "COXPD53" EXACT OMO:0003012 [] xref: MIM:619423 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency property_value: exactMatch "MIM:619423" xsd:string [Term] id: DOID:0070427 name: combined oxidative phosphorylation deficiency 54 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13." [url:https\://pubmed.ncbi.nlm.nih.gov/34715011/] synonym: "COXPD54" EXACT OMO:0003012 [] xref: MIM:619737 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency property_value: exactMatch "MIM:619737" xsd:string [Term] id: DOID:0070428 name: combined oxidative phosphorylation deficiency 55 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/33602924/] synonym: "COXPD55" EXACT OMO:0003012 [] xref: MIM:619743 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency property_value: exactMatch "MIM:619743" xsd:string [Term] id: DOID:0070429 name: combined oxidative phosphorylation deficiency 56 def: "A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25." [url:https\://pubmed.ncbi.nlm.nih.gov/35321494/] synonym: "COXPD56" EXACT OMO:0003012 [] xref: MIM:620139 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency property_value: exactMatch "MIM:620139" xsd:string [Term] id: DOID:0070430 name: combined oxidative phosphorylation deficiency 57 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12." [url:https\://pubmed.ncbi.nlm.nih.gov/35147173/] synonym: "COXPD57" EXACT OMO:0003012 [] xref: MIM:620167 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency property_value: exactMatch "MIM:620167" xsd:string [Term] id: DOID:0070431 name: hyperphosphatasia with impaired intellectual development syndrome def: "An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed." [url:https\://medlineplus.gov/genetics/condition/mabry-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/26219719/] subset: DO_rare_slim synonym: "HPMRS" EXACT OMO:0003012 [] synonym: "hyperphosphatasia with mental retardation syndrome" EXACT [] synonym: "Mabry disease" EXACT [] synonym: "Mabry syndrome" EXACT [] xref: MESH:C565495 xref: MIM:PS239300 xref: ORDO:247262 xref: SNOMEDCT_US_2023_03_01:33982008 xref: UMLS_CUI:C1855923 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder property_value: exactMatch "MIM:PS239300" xsd:string property_value: exactMatch "ORDO:247262" xsd:string property_value: exactMatch "UMLS_CUI:C1855923" xsd:string [Term] id: DOID:0070432 name: hyperphosphatasia with impaired intellectual development syndrome 5 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12." [url:https\://pubmed.ncbi.nlm.nih.gov/27626616/] synonym: "glycosylphosphatidylinositol biosynthesis defect 11" EXACT [] synonym: "GPIBD11" EXACT OMO:0003012 [] synonym: "HPMRS5" EXACT OMO:0003012 [] synonym: "hyperphosphatasia with mental retardation syndrome 5" EXACT [] xref: MIM:616025 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome property_value: exactMatch "MIM:616025" xsd:string [Term] id: DOID:0070433 name: hyperphosphatasia with impaired intellectual development syndrome 1 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36." [url:https\://pubmed.ncbi.nlm.nih.gov/20802478/, url:https\://pubmed.ncbi.nlm.nih.gov/29310717/] synonym: "glycosylphosphatidylinositol biosynthesis defect 2" EXACT [] synonym: "GPIBD2" EXACT OMO:0003012 [] synonym: "HPMRS1" EXACT OMO:0003012 [] synonym: "hyperphosphatasia with mental retardation syndrome 1" EXACT [] xref: MIM:239300 xref: UMLS_CUI:C4551502 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome property_value: exactMatch "MIM:239300" xsd:string property_value: exactMatch "UMLS_CUI:C4551502" xsd:string [Term] id: DOID:0070434 name: hyperphosphatasia with impaired intellectual development syndrome 2 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13." [url:https\://pubmed.ncbi.nlm.nih.gov/22683086/] synonym: "glycosylphosphatidylinositol biosynthesis defect 6" EXACT [] synonym: "GPIBD6" EXACT OMO:0003012 [] synonym: "HPMRS2" EXACT OMO:0003012 [] synonym: "hyperphosphatasia with mental retardation syndrome 2" EXACT [] xref: MIM:614749 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome property_value: exactMatch "MIM:614749" xsd:string [Term] id: DOID:0070435 name: hyperphosphatasia with impaired intellectual development syndrome 3 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15." [url:https\://pubmed.ncbi.nlm.nih.gov/23561846/, url:https\://pubmed.ncbi.nlm.nih.gov/23561847/, url:https\://pubmed.ncbi.nlm.nih.gov/36833286/] synonym: "glycosylphosphatidylinositol biosynthesis defect 8" EXACT [] synonym: "GPIBD8" EXACT OMO:0003012 [] synonym: "HPMRS3" EXACT OMO:0003012 [] synonym: "hyperphosphatasia with mental retardation syndrome 3" EXACT [] xref: MIM:614207 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome property_value: exactMatch "MIM:614207" xsd:string [Term] id: DOID:0070436 name: hyperphosphatasia with impaired intellectual development syndrome 4 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12." [url:https\://pubmed.ncbi.nlm.nih.gov/24439110/] synonym: "glycosylphosphatidylinositol biosynthesis defect 62" EXACT [] synonym: "GPIBD62" EXACT OMO:0003012 [] synonym: "HPMRS6" EXACT OMO:0003012 [] synonym: "hyperphosphatasia with mental retardation syndrome 6" EXACT [] xref: MIM:615716 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome property_value: exactMatch "MIM:615716" xsd:string [Term] id: DOID:0070437 name: hyperphosphatasia with impaired intellectual development syndrome 6 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22." [url:https\://pubmed.ncbi.nlm.nih.gov/26293662/] synonym: "glycosylphosphatidylinositol biosynthesis defect 40" EXACT [] synonym: "GPIBD40" EXACT OMO:0003012 [] synonym: "HPMRS4" EXACT OMO:0003012 [] synonym: "hyperphosphatasia with mental retardation syndrome 4" EXACT [] xref: MIM:616809 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome property_value: exactMatch "MIM:616809" xsd:string [Term] id: DOID:0070438 name: retinal macular dystrophy def: "A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees." [url:https\://pubmed.ncbi.nlm.nih.gov/27496188/, url:https\://pubmed.ncbi.nlm.nih.gov/35331648/, url:https\://pubmed.ncbi.nlm.nih.gov/36243009] synonym: "MCDR" EXACT OMO:0003012 [] xref: MIM:PS136550 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4448 ! macular degeneration property_value: exactMatch "MIM:PS136550" xsd:string [Term] id: DOID:0070439 name: North Carolina macular dystrophy def: "A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/36243009] subset: DO_rare_slim subset: NCIthesaurus synonym: "central areolar pigment epithelial dystrophy" EXACT [] synonym: "central retinal pigment epithelial dystrophy" EXACT [] synonym: "MCDR1" EXACT OMO:0003012 [] synonym: "NCMD" EXACT OMO:0003012 [] synonym: "progressive foveal dystrophy" EXACT [] synonym: "retinal macular dystrophy 1" EXACT [] xref: GARD:9179 xref: MESH:C537835 xref: MIM:136550 xref: NCI:C168999 xref: ORDO:75327 xref: SNOMEDCT_US_2023_03_01:312925009 xref: UMLS_CUI:C0730294 is_a: DOID:0070438 ! retinal macular dystrophy property_value: exactMatch "GARD:9179" xsd:string property_value: exactMatch "MESH:C537835" xsd:string property_value: exactMatch "MIM:136550" xsd:string property_value: exactMatch "ORDO:75327" xsd:string property_value: exactMatch "UMLS_CUI:C0730294" xsd:string [Term] id: DOID:0070440 name: retinal macular dystrophy 3 def: "A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/27496188/] synonym: "MCDR3" EXACT OMO:0003012 [] xref: MIM:608850 is_a: DOID:0070438 ! retinal macular dystrophy property_value: exactMatch "MIM:608850" xsd:string [Term] id: DOID:0070441 name: retinal macular dystrophy 4 def: "A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21." [url:https\://pubmed.ncbi.nlm.nih.gov/35331648/] synonym: "MCDR4" EXACT OMO:0003012 [] xref: MIM:619977 is_a: DOID:0070438 ! retinal macular dystrophy property_value: exactMatch "MIM:619977" xsd:string [Term] id: DOID:0070442 name: paroxysmal nonkinesigenic dyskinesia 3 def: "A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22." [url:https\://pubmed.ncbi.nlm.nih.gov/15937479/, url:https\://pubmed.ncbi.nlm.nih.gov/26195193/] subset: DO_rare_slim synonym: "generalized epilepsy and paroxysmal dyskinesia" EXACT [] xref: MIM:609446 xref: ORDO:79137 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia property_value: exactMatch "MIM:609446" xsd:string property_value: exactMatch "ORDO:79137" xsd:string [Term] id: DOID:0070443 name: neurodevelopmental disorder with cerebellar atrophy and motor dysfunction def: "An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2." [url:https\://pubmed.ncbi.nlm.nih.gov/33963192/, url:https\://pubmed.ncbi.nlm.nih.gov/34569062/] xref: MIM:619333 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder property_value: exactMatch "MIM:619333" xsd:string [Term] id: DOID:0070444 name: neurodevelopmental disorder with language delay and seizures def: "An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22." [url:https\://pubmed.ncbi.nlm.nih.gov/35240055/] xref: MIM:619908 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder property_value: exactMatch "MIM:619908" xsd:string [Term] id: DOID:0070445 name: early-onset dystonia and/or spastic paraplegia def: "A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1." [url:https\://pubmed.ncbi.nlm.nih.gov/34636445/] xref: MIM:619681 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia property_value: exactMatch "MIM:619681" xsd:string [Term] id: DOID:0070446 name: mitochondrial DNA depletion syndrome 16 def: "A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/27592148/, url:https\://pubmed.ncbi.nlm.nih.gov/30157269/] synonym: "mitochondrial DNA depletion syndrome 16 (hepatic type)" EXACT [] xref: MIM:618528 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome property_value: exactMatch "MIM:618528" xsd:string [Term] id: DOID:0070447 name: mitochondrial DNA depletion syndrome 16B def: "A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23." [url:https\://pubmed.ncbi.nlm.nih.gov/31778857/] synonym: "mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)" EXACT [] xref: MIM:619425 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome property_value: exactMatch "MIM:619425" xsd:string [Term] id: DOID:0070448 name: mitochondrial DNA depletion syndrome 17 def: "A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome." [url:https\://pubmed.ncbi.nlm.nih.gov/28973171/] xref: MIM:618567 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome property_value: exactMatch "MIM:618567" xsd:string [Term] id: DOID:0070449 name: mitochondrial DNA depletion syndrome 18 def: "A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3." [url:https\://pubmed.ncbi.nlm.nih.gov/29517768/] xref: MIM:618811 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome property_value: exactMatch "MIM:618811" xsd:string [Term] id: DOID:0070450 name: mitochondrial DNA depletion syndrome 19 def: "A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/29211846/] xref: MIM:618972 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome property_value: exactMatch "MIM:618972" xsd:string [Term] id: DOID:0070451 name: mitochondrial DNA depletion syndrome 20 def: "A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12." [url:https\://pubmed.ncbi.nlm.nih.gov/33855352/] synonym: "mitochondrial DNA depletion syndrome 20 (MNGIE type)" EXACT [] xref: MIM:619780 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome property_value: exactMatch "MIM:619780" xsd:string [Term] id: DOID:0070452 name: xanthinuria type I def: "A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23." [url:https\://pubmed.ncbi.nlm.nih.gov/9153281/] subset: DO_rare_slim synonym: "XAN1" EXACT OMO:0003012 [] xref: GARD:5621 xref: MESH:C562584 xref: MIM:278300 xref: ORDO:93601 xref: SNOMEDCT_US_2023_03_01:836343001 xref: UMLS_CUI:C0268118 is_a: DOID:0060236 ! xanthinuria [Term] id: DOID:0070453 name: xanthinuria type II def: "A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12." [url:https\://pubmed.ncbi.nlm.nih.gov/11302742/, url:https\://pubmed.ncbi.nlm.nih.gov/23203137/] subset: DO_rare_slim synonym: "XAN2" EXACT OMO:0003012 [] xref: GARD:5620 xref: MESH:C566358 xref: MIM:603592 xref: ORDO:93602 xref: UMLS_CUI:C1863688 is_a: DOID:0060236 ! xanthinuria [Term] id: DOID:0070454 name: hereditary spastic paraplegia 70 def: "A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/34585293/] synonym: "autosomal recessive spastic paraplegia 70" EXACT [] synonym: "SPG70" EXACT OMO:0003012 [] xref: MIM:620323 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia property_value: exactMatch "MIM:620323" xsd:string [Term] id: DOID:0070455 name: hereditary spastic paraplegia 79A def: "A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13." [url:https\://pubmed.ncbi.nlm.nih.gov/35986737/] synonym: "autosomal dominant spastic paraplegia 79A" EXACT [] synonym: "SPG79A" EXACT OMO:0003012 [] xref: MIM:620221 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia property_value: exactMatch "MIM:620221" xsd:string [Term] id: DOID:0070456 name: hereditary spastic paraplegia 87 def: "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3." [url:https\://pubmed.ncbi.nlm.nih.gov/35718349/] synonym: "autosomal recessive spastic paraplegia 87" EXACT [] synonym: "SPG87" EXACT OMO:0003012 [] xref: MIM:619966 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia property_value: exactMatch "MIM:619966" xsd:string [Term] id: DOID:0070457 name: hereditary spastic paraplegia 88 def: "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2." [url:https\://pubmed.ncbi.nlm.nih.gov/34564892/, url:https\://pubmed.ncbi.nlm.nih.gov/34825409/, url:https\://pubmed.ncbi.nlm.nih.gov/34981581/] synonym: "autosomal dominant spastic paraplegia 88" EXACT [] synonym: "SPG88" EXACT OMO:0003012 [] xref: MIM:620106 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia property_value: exactMatch "MIM:620106" xsd:string [Term] id: DOID:0070458 name: hereditary spastic paraplegia 89 def: "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13." [url:https\://pubmed.ncbi.nlm.nih.gov/37119330/] synonym: "autosomal recessive spastic paraplegia 89" EXACT [] synonym: "SPG89" EXACT OMO:0003012 [] xref: MIM:620379 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia property_value: exactMatch "MIM:620379" xsd:string [Term] id: DOID:0070459 name: hereditary spastic paraplegia 90A def: "A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/36718090/] synonym: "autosomal dominant spastic paraplegia 90A" EXACT [] synonym: "SPG90A" EXACT OMO:0003012 [] xref: MIM:620416 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia property_value: exactMatch "MIM:620416" xsd:string [Term] id: DOID:0070460 name: hereditary spastic paraplegia 90B def: "A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/36718090/] synonym: "autosomal recessive spastic paraplegia 90B" EXACT [] synonym: "SPG90B" EXACT OMO:0003012 [] xref: MIM:620417 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia property_value: exactMatch "MIM:620417" xsd:string [Term] id: DOID:0070461 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4A def: "A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance." [url:https\://pubmed.ncbi.nlm.nih.gov/34483339/, url:https\://pubmed.ncbi.nlm.nih.gov/34954817/] synonym: "MC5DN4A" EXACT OMO:0003012 [] xref: MIM:620358 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060333 ! mitochondrial complex V (ATP synthase) deficiency nuclear type 4 property_value: exactMatch "MIM:620358" xsd:string [Term] id: DOID:0070462 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4B def: "A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance." [url:https\://pubmed.ncbi.nlm.nih.gov/23599390/] synonym: "MC5DN4B" EXACT OMO:0003012 [] xref: MIM:615228 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060333 ! mitochondrial complex V (ATP synthase) deficiency nuclear type 4 property_value: exactMatch "MIM:615228" xsd:string [Term] id: DOID:0070463 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 5 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/29478781/] synonym: "MC5DN5" EXACT OMO:0003012 [] xref: MIM:618120 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency property_value: exactMatch "MIM:618120" xsd:string [Term] id: DOID:0070464 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 7 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11." [url:https\://pubmed.ncbi.nlm.nih.gov/34954817/, url:https\://pubmed.ncbi.nlm.nih.gov/35621276/] synonym: "MC5DN7" EXACT OMO:0003012 [] xref: MIM:620359 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency property_value: exactMatch "MIM:620359" xsd:string [Term] id: DOID:0070465 name: spinocerebellar ataxia with axonal neuropathy type 3 def: "An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3." [url:https\://pubmed.ncbi.nlm.nih.gov/29718187/] synonym: "autosomal recessive spinocerebellar ataxia with axonal neuropathy 3" EXACT [] synonym: "SCAN3" EXACT OMO:0003012 [] synonym: "spinocerebellar ataxia with axonal neuropathy 3" EXACT [] xref: MIM:618387 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0070466 name: carpal tunnel syndrome 1 def: "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1." [url:https\://pubmed.ncbi.nlm.nih.gov/8309582/] synonym: "CTS1" EXACT OMO:0003012 [] xref: MIM:115430 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12169 ! carpal tunnel syndrome [Term] id: DOID:0070467 name: carpal tunnel syndrome 2 def: "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11." [url:https\://pubmed.ncbi.nlm.nih.gov/32686688/] synonym: "CTS2" EXACT OMO:0003012 [] xref: MIM:619161 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12169 ! carpal tunnel syndrome [Term] id: DOID:0070468 name: Yoon-Bellen neurodevelopmental syndrome def: "A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/28017472/, url:https\://pubmed.ncbi.nlm.nih.gov/34800363/] synonym: "YOBELN" EXACT OMO:0003012 [] xref: MIM:619701 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome property_value: exactMatch "MIM:619701" xsd:string [Term] id: DOID:0070469 name: neurodevelopmental disorder with dysmorphic facies and thin corpus callosum def: "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/31924697/, url:https\://pubmed.ncbi.nlm.nih.gov/36255738/] synonym: "NEDDFAC" EXACT OMO:0003012 [] xref: MIM:619480 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder property_value: exactMatch "MIM:619480" xsd:string [Term] id: DOID:0070470 name: chromosome 1p36.33 duplication syndrome def: "A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common." [url:https\://pubmed.ncbi.nlm.nih.gov/32004445/, url:https\://pubmed.ncbi.nlm.nih.gov/33575671/] subset: DO_rare_slim synonym: "CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT" EXACT [] xref: MIM:618815 xref: ORDO:656279 xref: UMLS_CUI:C5394150 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060429 ! chromosomal duplication syndrome property_value: exactMatch "MIM:618815" xsd:string property_value: exactMatch "ORDO:656279" xsd:string property_value: exactMatch "UMLS_CUI:C5394150" xsd:string [Term] id: DOID:0070471 name: early-onset epilepsy 2 def: "An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/31197650/] synonym: "EPEO2" EXACT OMO:0003012 [] xref: MIM:618832 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1826 ! epilepsy property_value: exactMatch "MIM:618832" xsd:string [Term] id: DOID:0070472 name: early-onset epilepsy 3 def: "An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/36074901/, url:https\://pubmed.ncbi.nlm.nih.gov/37161035/] synonym: "EPEO3" EXACT OMO:0003012 [] xref: MIM:620465 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1826 ! epilepsy property_value: exactMatch "MIM:620465" xsd:string [Term] id: DOID:0070473 name: Zaki syndrome def: "A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies." [url:https\://pubmed.ncbi.nlm.nih.gov/34587386/, url:https\://pubmed.ncbi.nlm.nih.gov/37005218/] subset: DO_rare_slim xref: MIM:619648 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome property_value: exactMatch "MIM:619648" xsd:string [Term] id: DOID:0070474 name: childhood-onset neurodegeneration with brain atrophy def: "A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31." [url:https\://pubmed.ncbi.nlm.nih.gov/28777933/] subset: DO_rare_slim synonym: "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" EXACT [] synonym: "CONDBA" EXACT OMO:0003012 [] xref: GARD:13658 xref: MIM:617672 xref: ORDO:500180 xref: SNOMEDCT_US_2023_03_01:1167373005 xref: UMLS_CUI:C4540086 xref: UMLS_CUI:C5567227 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1289 ! neurodegenerative disease property_value: exactMatch "GARD:13658" xsd:string property_value: exactMatch "MIM:617672" xsd:string property_value: exactMatch "ORDO:500180" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:1167373005" xsd:string property_value: exactMatch "UMLS_CUI:C4540086" xsd:string property_value: exactMatch "UMLS_CUI:C5567227" xsd:string [Term] id: DOID:0070475 name: SMARCB1-deficient renal medullary carcinoma def: "A renal cell carcinoma that develops in the renal medulla." [url:https\://pubmed.ncbi.nlm.nih.gov/28697319/, url:https\://pubmed.ncbi.nlm.nih.gov/35853783/, url:https\://pubmed.ncbi.nlm.nih.gov/36645398/] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "kidney medullary carcinoma" EXACT [] synonym: "medullary carcinoma of the kidney" EXACT [] synonym: "medullary renal cell carcinoma" EXACT [] synonym: "renal medullary carcinoma" EXACT [] synonym: "RMC" EXACT OMO:0003012 [] xref: GARD:13175 xref: NCI:C7572 xref: ORDO:319319 xref: SNOMEDCT_US_2023_10_01:765095002 xref: UMLS_CUI:C4049328 is_a: DOID:4450 ! renal cell carcinoma property_value: exactMatch "GARD:13175" xsd:string property_value: exactMatch "NCI:C7572" xsd:string property_value: exactMatch "ORDO:319319" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_10_01:765095002" xsd:string property_value: exactMatch "UMLS_CUI:C4049328" xsd:string [Term] id: DOID:0070476 name: diphthamide deficiency syndrome def: "An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2)." [url:https\://pubmed.ncbi.nlm.nih.gov/32576952/, url:https\://pubmed.ncbi.nlm.nih.gov/35482014/] subset: DO_rare_slim synonym: "craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome" EXACT [] synonym: "DEDSSH" EXACT OMO:0003012 [] synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair" EXACT [] xref: MIM:PS616901 xref: ORDO:459061 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder property_value: exactMatch "MIM:PS616901" xsd:string property_value: exactMatch "ORDO:459061" xsd:string [Term] id: DOID:0070477 name: diphthamide deficiency syndrome 1 def: "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/30877278/] synonym: "DEDSSH1" EXACT OMO:0003012 [] synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair 1" EXACT [] synonym: "DPH1 syndrome" EXACT [] synonym: "Loucks-Innes syndrome" EXACT [] xref: MIM:616901 is_a: DOID:0070476 ! diphthamide deficiency syndrome property_value: exactMatch "MIM:616901" xsd:string [Term] id: DOID:0070478 name: diphthamide deficiency syndrome 2 def: "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1." [url:https\://pubmed.ncbi.nlm.nih.gov/32576952/] synonym: "DEDSSH2" EXACT OMO:0003012 [] synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair 2" EXACT [] xref: MIM:620062 is_a: DOID:0070476 ! diphthamide deficiency syndrome property_value: exactMatch "MIM:620062" xsd:string [Term] id: DOID:0070479 name: neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties def: "An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/35482014/] synonym: "NEDSFF" EXACT OMO:0003012 [] xref: MIM:620070 is_a: DOID:0070476 ! diphthamide deficiency syndrome property_value: exactMatch "MIM:620070" xsd:string [Term] id: DOID:0070480 name: schwannomatosis 1 def: "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/19582488/, url:https\://pubmed.ncbi.nlm.nih.gov/35674741/] subset: NCIthesaurus synonym: "neurofibromatosis 3" BROAD [] synonym: "SMARCB1-related schwannomatosis" EXACT [] synonym: "SWN1" EXACT OMO:0003012 [] xref: MIM:162091 xref: NCI:C186703 xref: UMLS_CUI:C5670707 is_a: DOID:3204 ! schwannomatosis property_value: exactMatch "MIM:162091" xsd:string property_value: exactMatch "NCI:C186703" xsd:string property_value: exactMatch "UMLS_CUI:C5670707" xsd:string [Term] id: DOID:0070481 name: schwannomatosis 2 def: "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/24362817/, url:https\://pubmed.ncbi.nlm.nih.gov/35674741/] subset: NCIthesaurus synonym: "LZTR1-related schwannomatosis" EXACT [] synonym: "neurofibromatosis 3" BROAD [] synonym: "SWN2" EXACT OMO:0003012 [] xref: MIM:615670 xref: NCI:C186704 xref: UMLS_CUI:C5670708 is_a: DOID:3204 ! schwannomatosis property_value: exactMatch "MIM:615670" xsd:string property_value: exactMatch "NCI:C186704" xsd:string property_value: exactMatch "UMLS_CUI:C5670708" xsd:string [Term] id: DOID:0070482 name: spinal neurofibromatosis def: "A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots." [url:https\://pubmed.ncbi.nlm.nih.gov/25211147/, url:https\://pubmed.ncbi.nlm.nih.gov/34012067/] synonym: "familial spinal neurofibromatosis" EXACT [] synonym: "FNSF" EXACT OMO:0003012 [] synonym: "SNF" EXACT OMO:0003012 [] xref: MIM:162210 is_a: DOID:0111253 ! neurofibromatosis 1 property_value: exactMatch "MIM:162210" xsd:string [Term] id: DOID:0070483 name: Watson syndrome def: "A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/1770531/, url:https\://pubmed.ncbi.nlm.nih.gov/6025371/] xref: MIM:193520 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy property_value: exactMatch "MIM:193520" xsd:string [Term] id: DOID:0070484 name: Legius syndrome def: "A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14." [url:https\://pubmed.ncbi.nlm.nih.gov/34012067/] subset: DO_rare_slim subset: NCIthesaurus synonym: "LGSS" EXACT OMO:0003012 [] synonym: "neurofibromatosis type 1-like syndrome" EXACT [] synonym: "NF1-like syndrome" EXACT [] xref: GARD:10714 xref: MESH:C548032 xref: MIM:611431 xref: NCI:C176941 xref: ORDO:137605 xref: SNOMEDCT_US_2023_03_01:703541007 xref: UMLS_CUI:C1969623 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy property_value: exactMatch "GARD:10714" xsd:string property_value: exactMatch "MESH:C548032" xsd:string property_value: exactMatch "MIM:611431" xsd:string property_value: exactMatch "NCI:C176941" xsd:string property_value: exactMatch "ORDO:137605" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:703541007" xsd:string property_value: exactMatch "UMLS_CUI:C1969623" xsd:string [Term] id: DOID:0070485 name: mitochondrial complex IV deficiency nuclear type 23 def: "A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22." [url:https\://pubmed.ncbi.nlm.nih.gov/36030551/] synonym: "MC4DN23" EXACT OMO:0003012 [] xref: MIM:620275 xref: UMLS_CUI:C5830322 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease property_value: exactMatch "MIM:620275" xsd:string property_value: exactMatch "UMLS_CUI:C5830322" xsd:string [Term] id: DOID:0070486 name: Parkinson's disease 25 def: "An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11." [url:https\://pubmed.ncbi.nlm.nih.gov/36073231/, url:https\://pubmed.ncbi.nlm.nih.gov/37046398/] synonym: "autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development" EXACT [] synonym: "PARK25" EXACT OMO:0003012 [] xref: MIM:620482 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease property_value: exactMatch "MIM:620482" xsd:string [Term] id: DOID:0070487 name: dopamine transporter deficiency syndrome def: "A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the SLC6A3 gene on chromosome 5p15.33." [url:https\://pubmed.ncbi.nlm.nih.gov/37443770/, url:https\://www.ncbi.nlm.nih.gov/books/NBK442323/] synonym: "DTDS" EXACT OMO:0003012 [] is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:480 ! movement disease [Term] id: DOID:0070488 name: atypical dopamine transporter deficiency syndrome def: "A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia." [url:https\://pubmed.ncbi.nlm.nih.gov/37443770/, url:https\://www.ncbi.nlm.nih.gov/books/NBK442323/] synonym: "atypical DTDS" EXACT [] is_a: DOID:0070487 ! dopamine transporter deficiency syndrome [Term] id: DOID:0070489 name: classic dopamine transporter deficiency syndrome def: "A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid." [url:https\://pubmed.ncbi.nlm.nih.gov/37443770/, url:https\://www.ncbi.nlm.nih.gov/books/NBK442323/] subset: DO_rare_slim subset: NCIthesaurus synonym: "classic DTDS" EXACT [] synonym: "infantile parkinsonism-dystonia 1" EXACT [] synonym: "PKDYS1" EXACT OMO:0003012 [] xref: GARD:10484 xref: MESH:C567730 xref: MIM:613135 xref: NCI:C129866 xref: ORDO:238455 xref: SNOMEDCT_US_2023_03_01:722763000 xref: UMLS_CUI:C2751067 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070487 ! dopamine transporter deficiency syndrome property_value: broadMatch "MIM:PS613135" xsd:string property_value: exactMatch "GARD:10484" xsd:string property_value: exactMatch "MESH:C567730" xsd:string property_value: exactMatch "MIM:613135" xsd:string property_value: exactMatch "NCI:C129866" xsd:string property_value: exactMatch "ORDO:238455" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:722763000" xsd:string property_value: exactMatch "UMLS_CUI:C2751067" xsd:string [Term] id: DOID:0070490 name: infantile parkinsonism-dystonia 2 def: "A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/23363473/] subset: DO_rare_slim synonym: "Brain dopamine-serotonin vesicular transport disease" EXACT [] synonym: "PKDYS2" EXACT OMO:0003012 [] xref: GARD:13594 xref: MIM:618049 xref: SNOMEDCT_US_2023_03_01:717942003 xref: UMLS_CUI:C4303546 xref: UMLS_CUI:C4747991 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:480 ! movement disease property_value: broadMatch "MIM:PS613135" xsd:string property_value: exactMatch "GARD:13594" xsd:string property_value: exactMatch "MIM:618049" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:717942003" xsd:string property_value: exactMatch "UMLS_CUI:C4303546" xsd:string property_value: exactMatch "UMLS_CUI:C4747991" xsd:string [Term] id: DOID:0070491 name: mitochondrial complex IV deficiency nuclear type 1 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2." [url:https\://pubmed.ncbi.nlm.nih.gov/10746561/] subset: NCIthesaurus synonym: "MC4DN1" EXACT OMO:0003012 [] xref: MIM:220110 xref: NCI:C176895 xref: UMLS_CUI:C5435656 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:220110" xsd:string property_value: exactMatch "NCI:C176895" xsd:string property_value: exactMatch "UMLS_CUI:C5435656" xsd:string [Term] id: DOID:0070492 name: mitochondrial complex IV deficiency nuclear type 3 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12." [url:https\://pubmed.ncbi.nlm.nih.gov/10767350/, url:https\://pubmed.ncbi.nlm.nih.gov/12928484/] synonym: "MC4DN3" EXACT OMO:0003012 [] xref: MIM:619046 xref: UMLS_CUI:C5436682 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619046" xsd:string property_value: exactMatch "UMLS_CUI:C5436682" xsd:string [Term] id: DOID:0070493 name: mitochondrial complex IV deficiency nuclear type 4 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/11013136/, url:https\://pubmed.ncbi.nlm.nih.gov/19295170/] synonym: "MC4DN4" EXACT OMO:0003012 [] xref: MIM:619048 xref: UMLS_CUI:C5436683 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619048" xsd:string property_value: exactMatch "UMLS_CUI:C5436683" xsd:string [Term] id: DOID:0070494 name: mitochondrial complex IV deficiency nuclear type 7 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12." [url:https\://pubmed.ncbi.nlm.nih.gov/18499082/, url:https\://pubmed.ncbi.nlm.nih.gov/24781756/] synonym: "MC4DN7" EXACT OMO:0003012 [] xref: MIM:619051 xref: UMLS_CUI:C5436685 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619051" xsd:string property_value: exactMatch "UMLS_CUI:C5436685" xsd:string [Term] id: DOID:0070495 name: mitochondrial complex IV deficiency nuclear type 8 def: "A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/20727754/] synonym: "MC4DN8" EXACT OMO:0003012 [] xref: MIM:619052 xref: UMLS_CUI:C5436689 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619052" xsd:string property_value: exactMatch "UMLS_CUI:C5436689" xsd:string [Term] id: DOID:0070496 name: mitochondrial complex IV deficiency nuclear type 10 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12." [url:https\://pubmed.ncbi.nlm.nih.gov/22243966/] synonym: "MC4DN10" EXACT OMO:0003012 [] xref: MIM:619053 xref: UMLS_CUI:C5436692 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619053" xsd:string property_value: exactMatch "UMLS_CUI:C5436692" xsd:string [Term] id: DOID:0070497 name: mitochondrial complex IV deficiency nuclear type 11 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44." [url:https\://pubmed.ncbi.nlm.nih.gov/24202787/, url:https\://pubmed.ncbi.nlm.nih.gov/33751098/] synonym: "MC4DN11" EXACT OMO:0003012 [] xref: MIM:619054 xref: UMLS_CUI:C5436694 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619054" xsd:string property_value: exactMatch "UMLS_CUI:C5436694" xsd:string [Term] id: DOID:0070498 name: mitochondrial complex IV deficiency nuclear type 12 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/24462369/] synonym: "MC4DN12" EXACT OMO:0003012 [] xref: MIM:619055 xref: UMLS_CUI:C5436695 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619055" xsd:string property_value: exactMatch "UMLS_CUI:C5436695" xsd:string [Term] id: DOID:0070499 name: mitochondrial complex IV deficiency nuclear type 14 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/25604084/] synonym: "MC4DN14" EXACT OMO:0003012 [] xref: MIM:619058 xref: UMLS_CUI:C5436710 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619058" xsd:string property_value: exactMatch "UMLS_CUI:C5436710" xsd:string [Term] id: DOID:0070500 name: mitochondrial complex IV deficiency nuclear type 15 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/26685157/] synonym: "MC4DN15" EXACT OMO:0003012 [] xref: MIM:619059 xref: UMLS_CUI:C5436712 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619059" xsd:string property_value: exactMatch "UMLS_CUI:C5436712" xsd:string [Term] id: DOID:0070501 name: mitochondrial complex IV deficiency nuclear type 16 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1." [url:https\://pubmed.ncbi.nlm.nih.gov/31290619/] synonym: "MC4DN16" EXACT OMO:0003012 [] xref: MIM:619060 xref: UMLS_CUI:C5436714 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619060" xsd:string property_value: exactMatch "UMLS_CUI:C5436714" xsd:string [Term] id: DOID:0070502 name: mitochondrial complex IV deficiency nuclear type 17 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33." [url:https\://pubmed.ncbi.nlm.nih.gov/25175347/] synonym: "MC4DN17" EXACT OMO:0003012 [] xref: MIM:619061 xref: UMLS_CUI:C5436718 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619061" xsd:string property_value: exactMatch "UMLS_CUI:C5436718" xsd:string [Term] id: DOID:0070503 name: mitochondrial complex IV deficiency nuclear type 18 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/31155743/] synonym: "MC4DN18" EXACT OMO:0003012 [] xref: MIM:619062 xref: UMLS_CUI:C5436720 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619062" xsd:string property_value: exactMatch "UMLS_CUI:C5436720" xsd:string [Term] id: DOID:0070504 name: mitochondrial complex IV deficiency nuclear type 19 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/28386624/] synonym: "MC4DN19" EXACT OMO:0003012 [] xref: MIM:619063 xref: UMLS_CUI:C5436723 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619063" xsd:string property_value: exactMatch "UMLS_CUI:C5436723" xsd:string [Term] id: DOID:0070505 name: mitochondrial complex IV deficiency nuclear type 20 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2." [url:https\://pubmed.ncbi.nlm.nih.gov/28247525/] synonym: "MC4DN20" EXACT OMO:0003012 [] xref: MIM:619064 xref: UMLS_CUI:C5436726 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619064" xsd:string property_value: exactMatch "UMLS_CUI:C5436726" xsd:string [Term] id: DOID:0070506 name: mitochondrial complex IV deficiency nuclear type 21 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/23746447/] synonym: "MC4DN21" EXACT OMO:0003012 [] xref: MIM:619065 xref: UMLS_CUI:C5436727 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619065" xsd:string property_value: exactMatch "UMLS_CUI:C5436727" xsd:string [Term] id: DOID:0070507 name: mitochondrial complex IV deficiency nuclear type 22 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2." [url:https\://pubmed.ncbi.nlm.nih.gov/33169484/] synonym: "MC4DN22" EXACT OMO:0003012 [] xref: MIM:619355 xref: UMLS_CUI:C5543491 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy property_value: exactMatch "MIM:619355" xsd:string property_value: exactMatch "UMLS_CUI:C5543491" xsd:string [Term] id: DOID:0070508 name: metabolic dysfunction and alcohol associated liver disease def: "A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the MASLD cardiometabolic risk factors." [url:https\://pubmed.ncbi.nlm.nih.gov/37364816/] comment: The five cardiometabolic risk factors of MASLD are:\n(1) Body mass index ≥ 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.\n(2) Fasting serum glucose ≥ 5.6 mmol/L, 2-hr post-load glucose levels ≥ 7.8 mmol/L, glycated hemoglobin (HbA1c) ≥ 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose ≥ 11.1 mmol/L (pediatric only).\n(3) Blood pressure ≥ lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age ≥ 13 years); or specific hypertensive drug treatment.\n(4) Plasma triglycerides ≥ 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age ≥ 10 years); or lipid lowering treatment.\n(5) Plasma high-density lipoprotein cholesterol ≤ 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment. synonym: "metabolic dysfunction and alcohol related liver disease" EXACT [] synonym: "MetALD" EXACT OMO:0003012 [] is_a: DOID:9452 ! steatotic liver disease [Term] id: DOID:0070509 name: Schinzel Giedion syndrome def: "An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3." [url:https\://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/20436468/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Schinzel-Giedion midface retraction syndrome" EXACT [] synonym: "SGS" EXACT OMO:0003012 [] xref: GARD:117 xref: MESH:C536632 xref: MIM:269150 xref: NCI:C129308 xref: ORDO:798 xref: SNOMEDCT_US_2023_03_01:18899000 xref: UMLS_CUI:C0265227 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia property_value: exactMatch "GARD:117" xsd:string property_value: exactMatch "MESH:C536632" xsd:string property_value: exactMatch "MIM:269150" xsd:string property_value: exactMatch "NCI:C129308" xsd:string property_value: exactMatch "ORDO:798" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:18899000" xsd:string property_value: exactMatch "UMLS_CUI:C0265227" xsd:string [Term] id: DOID:0070510 name: inflammatory poikiloderma with hair abnormalities and acral keratoses def: "A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2." [url:https\://pubmed.ncbi.nlm.nih.gov/34999892/] subset: DO_rare_slim synonym: "IPHAK" EXACT OMO:0003012 [] synonym: "LIPHAK" EXACT OMO:0003012 [] synonym: "LIPHAK syndrome" EXACT [] xref: MIM:620199 xref: UMLS_CUI:C5774293 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:37 ! skin disease property_value: exactMatch "MIM:620199" xsd:string property_value: exactMatch "UMLS_CUI:C5774293" xsd:string [Term] id: DOID:0070511 name: polyhydramnios, megalencephaly, and symptomatic epilepsy def: "A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/17522105/, url:https\://pubmed.ncbi.nlm.nih.gov/33605605/] subset: DO_rare_slim synonym: "PMSE" EXACT OMO:0003012 [] synonym: "PMSE syndrome" EXACT [] synonym: "Pretzel syndrome" EXACT [] xref: GARD:12913 xref: MESH:C567020 xref: MIM:611087 xref: ORDO:500533 xref: SNOMEDCT_US_2023_03_01:1167371007 xref: UMLS_CUI:C1970203 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome property_value: exactMatch "GARD:12913" xsd:string property_value: exactMatch "MESH:C567020" xsd:string property_value: exactMatch "MIM:611087" xsd:string property_value: exactMatch "ORDO:500533" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:1167371007" xsd:string property_value: exactMatch "UMLS_CUI:C1970203" xsd:string [Term] id: DOID:0070512 name: neurodevelopmental disorder with hypotonia and speech delay def: "A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3." [url:https\://pubmed.ncbi.nlm.nih.gov/36528028/] subset: DO_rare_slim synonym: "NEDHSS" EXACT OMO:0003012 [] xref: MIM:620455 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome property_value: exactMatch "MIM:620455" xsd:string [Term] id: DOID:0070513 name: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22." [url:https\://pubmed.ncbi.nlm.nih.gov/37071997/] synonym: "NEDFBA" EXACT OMO:0003012 [] xref: MIM:620489 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder property_value: exactMatch "MIM:620489" xsd:string [Term] id: DOID:0070514 name: neurodevelopmental disorder with dysmorphic facies and distal limb anomalies def: "An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2." [url:https\://pubmed.ncbi.nlm.nih.gov/28942966/, url:https\://pubmed.ncbi.nlm.nih.gov/33522091/] synonym: "NEDDFL" EXACT OMO:0003012 [] xref: MIM:617755 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder property_value: exactMatch "MIM:617755" xsd:string [Term] id: DOID:0070515 name: chromosome 16p11.2 deletion syndrome, 593-kb def: "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb)." [url:https\://pubmed.ncbi.nlm.nih.gov/19914906/, url:https\://www.ncbi.nlm.nih.gov/books/NBK11167/] subset: DO_rare_slim synonym: "Proximal 16p11.2 microdeletion syndrome" EXACT [] xref: GARD:10740 xref: MIM:611913 xref: ORDO:261197 xref: UMLS_CUI:C3150154 xref: UMLS_CUI:C4273657 is_a: DOID:0060388 ! chromosomal deletion syndrome property_value: broadMatch "ICD10CM:Q93.5" xsd:string property_value: exactMatch "GARD:10740" xsd:string property_value: exactMatch "MIM:611913" xsd:string property_value: exactMatch "ORDO:261197" xsd:string property_value: exactMatch "UMLS_CUI:C3150154" xsd:string property_value: exactMatch "UMLS_CUI:C4273657" xsd:string [Term] id: DOID:0070516 name: Mitchell syndrome def: "A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1." [url:https\://pubmed.ncbi.nlm.nih.gov/32169171/, url:https\://pubmed.ncbi.nlm.nih.gov/37400800/] comment: Mitchell syndrome appears to be the result of gain-of-function variants in the ACOX1 gene that increase reactive oxygen species production without altering very-long-chain fatty acid production. subset: DO_rare_slim xref: MIM:618960 xref: ORDO:631248 xref: UMLS_CUI:C5394554 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:906 ! peroxisomal disease property_value: exactMatch "MIM:618960" xsd:string property_value: exactMatch "ORDO:631248" xsd:string property_value: exactMatch "UMLS_CUI:C5394554" xsd:string [Term] id: DOID:0070517 name: retinal macular dystrophy 2 def: "A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32." [url:https\://pubmed.ncbi.nlm.nih.gov/12657606/, url:https\://pubmed.ncbi.nlm.nih.gov/20393116/] subset: DO_rare_slim synonym: "MCDR2" EXACT OMO:0003012 [] xref: MESH:C562746 xref: MIM:608051 xref: ORDO:319640 xref: SNOMEDCT_US_2023_03_01:770594005 xref: UMLS_CUI:C4749334 is_a: DOID:0070438 ! retinal macular dystrophy property_value: exactMatch "MESH:C562746" xsd:string property_value: exactMatch "MIM:608051" xsd:string property_value: exactMatch "ORDO:319640" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:770594005" xsd:string property_value: exactMatch "UMLS_CUI:C4749334" xsd:string [Term] id: DOID:0070518 name: familial multiple lipomatosis def: "A lipomatosis characterized by the development of numerous encapsulated lipomas on the extremities and trunk that has_material_basis_in autosomal dominant inheritance." [url:https\://pubmed.ncbi.nlm.nih.gov/12516905/, url:https\://pubmed.ncbi.nlm.nih.gov/32021365/] subset: DO_rare_slim xref: GARD:12925 xref: MESH:D000071070 xref: MIM:151900 xref: ORDO:199276 xref: UMLS_CUI:C1275273 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3153 ! lipomatosis property_value: exactMatch "GARD:12925" xsd:string property_value: exactMatch "MESH:D000071070" xsd:string property_value: exactMatch "MIM:151900" xsd:string property_value: exactMatch "ORDO:199276" xsd:string property_value: exactMatch "UMLS_CUI:C1275273" xsd:string [Term] id: DOID:0070519 name: early-onset vitamin B6-dependent epilepsy 4 def: "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2." [url:https\://pubmed.ncbi.nlm.nih.gov/29053735/, url:https\://pubmed.ncbi.nlm.nih.gov/30043187/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1486/] synonym: "AASA dehydrogenase deficiency" EXACT [] synonym: "antiquitin deficiency" EXACT [] synonym: "EPEO4" EXACT OMO:0003012 [] synonym: "PDE-ALDH7A1" EXACT OMO:0003012 [] xref: MIM:266100 is_a: DOID:0080768 ! pyridoxine-dependent epilepsy property_value: exactMatch "MIM:266100" xsd:string [Term] id: DOID:0070520 name: peeling skin syndrome 1 def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33." [url:https\://pubmed.ncbi.nlm.nih.gov/20691404/, url:https\://pubmed.ncbi.nlm.nih.gov/28584761] subset: DO_rare_slim synonym: "generalized inflammatory peeling skin syndrome" EXACT [] synonym: "inflammatory peeling skin syndrome" EXACT [] synonym: "peeling skin syndrome type B" EXACT [] synonym: "PSS1" EXACT OMO:0003012 [] xref: MIM:270300 xref: ORDO:263553 xref: UMLS_CUI:C5679693 xref: UMLS_CUI:C5768235 is_a: DOID:0060283 ! peeling skin syndrome property_value: exactMatch "MIM:270300" xsd:string property_value: exactMatch "ORDO:263553" xsd:string property_value: exactMatch "UMLS_CUI:C5679693" xsd:string property_value: exactMatch "UMLS_CUI:C5768235" xsd:string [Term] id: DOID:0070521 name: peeling skin syndrome 2 def: "A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2." [url:https\://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2/, url:https\://pubmed.ncbi.nlm.nih.gov/16380904/, url:https\://pubmed.ncbi.nlm.nih.gov/22036214/] subset: DO_rare_slim synonym: "acral peeling skin syndrome" BROAD [] synonym: "APSS" BROAD OMO:0003012 [] synonym: "localized peeling skin syndrome" BROAD [] synonym: "PSS2" EXACT OMO:0003012 [] xref: GARD:12863 xref: MESH:C536316 xref: MIM:609796 xref: ORDO:263534 xref: SNOMEDCT_US_2023_03_01:709416009 xref: UMLS_CUI:C1853354 is_a: DOID:0060283 ! peeling skin syndrome property_value: exactMatch "GARD:12863" xsd:string property_value: exactMatch "MESH:C536316" xsd:string property_value: exactMatch "MIM:609796" xsd:string property_value: exactMatch "ORDO:263534" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:709416009" xsd:string property_value: exactMatch "UMLS_CUI:C1853354" xsd:string [Term] id: DOID:0070522 name: peeling skin syndrome 3 def: "A peeling skin syndrome that has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/22289416/] {comment="url:https://pubmed.ncbi.nlm.nih.gov/28204496/"} synonym: "peeling skin syndrome type A" BROAD [] synonym: "PSS3" EXACT OMO:0003012 [] xref: MIM:616265 is_a: DOID:0060283 ! peeling skin syndrome property_value: broadMatch "ORDO:263548" xsd:string property_value: exactMatch "MIM:616265" xsd:string [Term] id: DOID:0070523 name: peeling skin syndrome 4 def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1." [url:https\://pubmed.ncbi.nlm.nih.gov/21944047/, url:https\://pubmed.ncbi.nlm.nih.gov/23534700/] synonym: "AREI" BROAD OMO:0003012 [] synonym: "autosomal recessive exfoliative ichthyosis" BROAD [] synonym: "exfoliative ichthyosis" BROAD [] synonym: "ichthyosis bullosa of Siemens-like" EXACT [] synonym: "ichthyosis exfoliativa" BROAD [] synonym: "PSS4" EXACT OMO:0003012 [] xref: MESH:C564309 xref: MIM:607936 is_a: DOID:0060283 ! peeling skin syndrome property_value: exactMatch "MESH:C564309" xsd:string property_value: exactMatch "MIM:607936" xsd:string [Term] id: DOID:0070524 name: peeling skin syndrome 5 def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/27476651/] synonym: "autosomal recessive exfoliative ichthyosis" BROAD [] synonym: "exfoliative ichthyosis" BROAD [] synonym: "ichthyosis exfoliativa" BROAD [] synonym: "PSS5" EXACT OMO:0003012 [] xref: MIM:617115 is_a: DOID:0060283 ! peeling skin syndrome property_value: exactMatch "MIM:617115" xsd:string [Term] id: DOID:0070525 name: peeling skin syndrome 6 def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/29505760/, url:https\://pubmed.ncbi.nlm.nih.gov/29758285/] synonym: "peeling skin syndrome type A" BROAD [] synonym: "PSS6" EXACT OMO:0003012 [] xref: MIM:618084 is_a: DOID:0060283 ! peeling skin syndrome property_value: broadMatch "ORDO:263548" xsd:string property_value: exactMatch "MIM:618084" xsd:string [Term] id: DOID:0070526 name: PLACK syndrome def: "An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15." [url:https\://pubmed.ncbi.nlm.nih.gov/25683118/] subset: DO_rare_slim synonym: "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" EXACT [] xref: MIM:616295 xref: ORDO:444138 xref: SNOMEDCT_US_2023_03_01:1237509001 xref: UMLS_CUI:C4225381 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:37 ! skin disease property_value: exactMatch "MIM:616295" xsd:string property_value: exactMatch "ORDO:444138" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:1237509001" xsd:string property_value: exactMatch "UMLS_CUI:C4225381" xsd:string [Term] id: DOID:0070527 name: Borrelia miyamotoi disease def: "A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses." [url:https\://pubmed.ncbi.nlm.nih.gov/36113496/, url:https\://pubmed.ncbi.nlm.nih.gov/36839539] subset: DO_infectious_disease_slim synonym: "BMD" EXACT OMO:0003012 [] synonym: "hard tick-borne relapsing fever" EXACT [] xref: SNOMEDCT_US_2023_03_01:713014002 xref: UMLS_CUI:C4076531 is_a: DOID:0050338 ! primary bacterial infectious disease property_value: exactMatch "SNOMEDCT_US_2023_03_01:713014002" xsd:string property_value: exactMatch "UMLS_CUI:C4076531" xsd:string [Term] id: DOID:0070528 name: cepacia syndrome def: "An opportunistic bacterial infectious disease characterized by necrotizing pneumonia, acute respiratory distress syndrome, and bacteremia that has_material_basis_in Burkholderia cepacia complex, which is transmitted_by contact transmission, droplet spread transmission, vehicle-borne fomite transmission, and vehicle-borne ingestion transmission." [url:https\://pubmed.ncbi.nlm.nih.gov/15463897/, url:https\://pubmed.ncbi.nlm.nih.gov/33214785/, url:https\://pubmed.ncbi.nlm.nih.gov/36815622/, url:https\://www.cdc.gov/hai/organisms/bcepacia.html] comment: This disease occurs primarily in patients with cystic fibrosis. Cases have been seen where the disease develops years after initial infection. subset: DO_infectious_disease_slim synonym: "CS" EXACT OMO:0003012 [] is_a: DOID:0050340 ! opportunistic bacterial infectious disease [Term] id: DOID:0070529 name: Sifrim-Hitz-Weiss syndrome def: "An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31." [url:https\://pubmed.ncbi.nlm.nih.gov/27479907/, url:https\://pubmed.ncbi.nlm.nih.gov/27616479/, url:https\://www.ncbi.nlm.nih.gov/books/NBK561516/] subset: DO_rare_slim synonym: "CHD4 Neurodevelopmental Disorder" EXACT [] synonym: "CHD4-related neurodevelopmental disorder" EXACT [] synonym: "CHD4-related neurodevelopmental syndrome" EXACT [] synonym: "SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME" EXACT [] synonym: "SIHIWES" EXACT OMO:0003012 [] xref: MIM:617159 xref: ORDO:653712 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder property_value: exactMatch "MIM:617159" xsd:string property_value: exactMatch "ORDO:653712" xsd:string [Term] id: DOID:0070530 name: foveal hypoplasia 1 def: "A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13." [url:https\://disorders.eyes.arizona.edu/category/alternate-names/odonnell-pappas-syndrome, url:https\://eyewiki.org/Foveal_Hypoplasia, url:https\://pubmed.ncbi.nlm.nih.gov/12721955/, url:https\://pubmed.ncbi.nlm.nih.gov/24290379/, url:https\://pubmed.ncbi.nlm.nih.gov/7065945/] comment: PAX6 gene variation results in a number of eye diseases, including aniridia 1, that are primarily distinguished by phenotype. These phenotypes may correspond to different variants but there is not definitive evidence at this time to clearly define them all. O'Donnell-Pappas syndrome/foveal hypoplasia-presenile cataract syndrome refers to the subset of FVH1 with presenile cataract. This characteristic is not sufficient for distinction from FVH1 at this time [JAB, 2024-01-23]. synonym: "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract" EXACT [] synonym: "foveal hypoplasia-presenile cataract syndrome" NARROW [] synonym: "FVH1" EXACT OMO:0003012 [] synonym: "O'Donnell-Pappas syndrome" NARROW [] xref: MIM:136520 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5679 ! retinal disease property_value: exactMatch "MIM:136520" xsd:string property_value: narrowMatch "GARD:406" xsd:string property_value: narrowMatch "ORDO:2253" xsd:string property_value: narrowMatch "UMLS_CUI:C2931644" xsd:string [Term] id: DOID:0070531 name: foveal hypoplasia 2 def: "A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen." [url:https\://pubmed.ncbi.nlm.nih.gov/24045842/, url:https\://pubmed.ncbi.nlm.nih.gov/24290379/, url:https\://pubmed.ncbi.nlm.nih.gov/33498813/] comment: FHONDA syndrome refers to a subset of FVH2 with both optic nerve decussation defects and anterior segment dysgenesis. These characteristics are not sufficient for distinction from FVH2 at this time [JAB, 2024-01-23]. subset: DO_rare_slim synonym: "FHONDA" NARROW OMO:0003012 [] synonym: "FHONDA syndrome" NARROW [] synonym: "foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis" EXACT [] synonym: "foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis" NARROW [] synonym: "FVH2" EXACT OMO:0003012 [] xref: MIM:609218 xref: ORDO:397618 xref: SNOMEDCT_US_2023_03_01:782754006 xref: UMLS_CUI:C5190596 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5679 ! retinal disease property_value: exactMatch "MIM:609218" xsd:string property_value: exactMatch "ORDO:397618" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:782754006" xsd:string property_value: exactMatch "UMLS_CUI:C5190596" xsd:string [Term] id: DOID:0070532 name: aniridia 1 def: "An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common." [url:https\://eyewiki.org/Aniridia, url:https\://pubmed.ncbi.nlm.nih.gov/12721955/] comment: PAX6 gene variation may result in a number of different eye diseases, including foveal hypoplasia 1, that are primarily distinguished by phenotype. These phenotypes may correspond to different variants but there is not definitive evidence at this time to clearly define them all [JAB, 2024-01-23]. xref: MIM:106210 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12271 ! aniridia property_value: exactMatch "MIM:106210" xsd:string [Term] id: DOID:0070533 name: long QT syndrome 16 def: "A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common." [url:https\://pubmed.ncbi.nlm.nih.gov/25460178/, url:https\://pubmed.ncbi.nlm.nih.gov/31454269/] synonym: "LQT16" EXACT OMO:0003012 [] xref: MIM:618782 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome property_value: exactMatch "MIM:618782" xsd:string [Term] id: DOID:0070534 name: arrhythmogenic left ventricular cardiomyopathy def: "An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle." [url:https\://pubmed.ncbi.nlm.nih.gov/31637441/] subset: DO_rare_slim synonym: "ALVC" EXACT OMO:0003012 [] synonym: "left ventricular ACM" EXACT [] synonym: "left-dominant arrhythmogenic cardiomyopathy" EXACT [] xref: ORDO:293888 is_a: DOID:0060036 ! intrinsic cardiomyopathy [Term] id: DOID:0070535 name: arrhythmogenic biventricular cardiomyopathy def: "An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns." [url:https\://pubmed.ncbi.nlm.nih.gov/31637441/] subset: DO_rare_slim synonym: "biventricular ACM" EXACT [] xref: ORDO:293899 is_a: DOID:0060036 ! intrinsic cardiomyopathy [Term] id: DOID:0070536 name: neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures def: "An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33." [url:https\://pubmed.ncbi.nlm.nih.gov/34163037/] comment: There may be a distinction between patients with truncation mutations and those without, with the more severe phenotypes corresponding to the latter. synonym: "NEDHLSS" EXACT OMO:0003012 [] xref: MIM:620029 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder property_value: exactMatch "MIM:620029" xsd:string [Term] id: DOID:0070537 name: spastic tetraplegia, thin corpus callosum, and progressive microcephaly def: "An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14." [url:https\://pubmed.ncbi.nlm.nih.gov/25930971/, url:https\://pubmed.ncbi.nlm.nih.gov/26138499/] subset: DO_rare_slim synonym: "SPATCCM" EXACT OMO:0003012 [] xref: GARD:13425 xref: MIM:616657 xref: ORDO:447997 xref: UMLS_CUI:C4225254 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder property_value: exactMatch "GARD:13425" xsd:string property_value: exactMatch "MIM:616657" xsd:string property_value: exactMatch "ORDO:447997" xsd:string property_value: exactMatch "UMLS_CUI:C4225254" xsd:string [Term] id: DOID:0070538 name: syndromic X-linked intellectual developmental disorder bain type def: "A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/27545675/, url:https\://pubmed.ncbi.nlm.nih.gov/37372334/, url:https\://www.ncbi.nlm.nih.gov/books/NBK584018/] subset: DO_rare_slim subset: NCIthesaurus synonym: "HNRNPH2-related neurodevelopmental disorder" EXACT [] synonym: "HNRNPH2-RNDD" EXACT OMO:0003012 [] synonym: "Mental Retardation, X-linked, Syndrome, Bain Type" EXACT [] synonym: "MRXSB" EXACT OMO:0003012 [] xref: GARD:13442 xref: MIM:300986 xref: NCI:C183311 xref: UMLS_CUI:C4310814 is_a: DOID:0060309 ! syndromic X-linked intellectual disability property_value: exactMatch "GARD:13442" xsd:string property_value: exactMatch "MIM:300986" xsd:string property_value: exactMatch "NCI:C183311" xsd:string property_value: exactMatch "UMLS_CUI:C4310814" xsd:string [Term] id: DOID:0070539 name: Halperin-Birk syndrome def: "A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22." [url:https\://pubmed.ncbi.nlm.nih.gov/30464055/] comment: Tentative disease: two patients in one family have been identified to date [JAB, 2024-03-18]. synonym: "HLBKS" EXACT OMO:0003012 [] synonym: "NEDSOSB" EXACT OMO:0003012 [] synonym: "NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES" EXACT [] xref: MIM:618651 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome property_value: exactMatch "MIM:618651" xsd:string [Term] id: DOID:0070540 name: mitochondrial short-chain enoyl-CoA hydratase 1 deficiency def: "A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3." [url:https\://pubmed.ncbi.nlm.nih.gov/25125611/, url:https\://www.ncbi.nlm.nih.gov/books/NBK542806/] subset: DO_rare_slim subset: NCIthesaurus synonym: "ECHS1D" EXACT OMO:0003012 [] xref: GARD:13019 xref: MIM:616277 xref: NCI:C174218 xref: ORDO:653880 xref: UMLS_CUI:C4225391 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9252 ! amino acid metabolic disorder property_value: exactMatch "GARD:13019" xsd:string property_value: exactMatch "MIM:616277" xsd:string property_value: exactMatch "NCI:C174218" xsd:string property_value: exactMatch "ORDO:653880" xsd:string property_value: exactMatch "UMLS_CUI:C4225391" xsd:string [Term] id: DOID:0070541 name: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency def: "An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11." [url:https\://pubmed.ncbi.nlm.nih.gov/3128690/] subset: DO_rare_slim subset: NCIthesaurus synonym: "3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency" EXACT [] synonym: "HL deficiency" RELATED [] synonym: "HMG-CoA lyase deficiency" EXACT [] synonym: "HMGCL deficiency" EXACT [] synonym: "HMGCLD" EXACT OMO:0003012 [] synonym: "hydroxymethylglutaric aciduria" EXACT [] xref: GARD:8387 xref: MESH:C538324 xref: MIM:246450 xref: NCI:C84523 xref: ORDO:20 xref: UMLS_CUI:C0268601 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder property_value: exactMatch "GARD:8387" xsd:string property_value: exactMatch "MESH:C538324" xsd:string property_value: exactMatch "MIM:246450" xsd:string property_value: exactMatch "NCI:C84523" xsd:string property_value: exactMatch "ORDO:20" xsd:string property_value: exactMatch "UMLS_CUI:C0268601" xsd:string [Term] id: DOID:0070542 name: neurodevelopmental disorder with spastic paraplegia and microcephaly def: "An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common." [url:https\://pubmed.ncbi.nlm.nih.gov/29882329/, url:https\://pubmed.ncbi.nlm.nih.gov/31471722/] subset: DO_rare_slim synonym: "autosomal recessive mental retardation 49" EXACT [] synonym: "glutamate pyruvate transaminase 2 deficiency" EXACT [] synonym: "GPT2 deficiency" EXACT [] synonym: "MRT49" EXACT OMO:0003012 [] synonym: "NEDSPM" EXACT OMO:0003012 [] xref: MIM:616281 xref: ORDO:477673 xref: UMLS_CUI:C4225388 xref: UMLS_CUI:C5567787 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9252 ! amino acid metabolic disorder property_value: exactMatch "MIM:616281" xsd:string property_value: exactMatch "ORDO:477673" xsd:string property_value: exactMatch "UMLS_CUI:C4225388" xsd:string property_value: exactMatch "UMLS_CUI:C5567787" xsd:string [Term] id: DOID:0070543 name: neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities def: "An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/33015733/] synonym: "NEDCASB" EXACT OMO:0003012 [] xref: MIM:619121 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9252 ! amino acid metabolic disorder property_value: exactMatch "MIM:619121" xsd:string [Term] id: DOID:0070544 name: congenital glutamine deficiency def: "An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/21353613/] subset: DO_rare_slim synonym: "congenital systemic glutamine synthase deficiency" EXACT [] synonym: "GLND" EXACT OMO:0003012 [] xref: GARD:9848 xref: MIM:610015 xref: ORDO:71278 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder property_value: exactMatch "GARD:9848" xsd:string property_value: exactMatch "MIM:610015" xsd:string property_value: exactMatch "ORDO:71278" xsd:string [Term] id: DOID:0070545 name: developmental and epileptic encephalopathy 116 def: "A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/38579670/] synonym: "DEE116" EXACT OMO:0003012 [] xref: MIM:620806 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9252 ! amino acid metabolic disorder property_value: exactMatch "MIM:620806" xsd:string [Term] id: DOID:0070546 name: primary pigmented nodular adrenocortical disease 1 def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2." [url:https\://pubmed.ncbi.nlm.nih.gov/12213893/] subset: DO_rare_slim synonym: "PPNAD1" EXACT OMO:0003012 [] xref: MESH:C566469 xref: MIM:610489 xref: UMLS_CUI:C1864846 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease property_value: exactMatch "MESH:C566469" xsd:string property_value: exactMatch "MIM:610489" xsd:string property_value: exactMatch "UMLS_CUI:C1864846" xsd:string [Term] id: DOID:0070547 name: primary pigmented nodular adrenocortical disease 2 def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2." [url:https\://pubmed.ncbi.nlm.nih.gov/16767104/] subset: DO_rare_slim synonym: "PPNAD2" EXACT OMO:0003012 [] xref: MESH:C566472 xref: MIM:610475 xref: UMLS_CUI:C1864851 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease property_value: exactMatch "MESH:C566472" xsd:string property_value: exactMatch "MIM:610475" xsd:string property_value: exactMatch "UMLS_CUI:C1864851" xsd:string [Term] id: DOID:0070548 name: primary pigmented nodular adrenocortical disease 3 def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/18272904/] subset: DO_rare_slim synonym: "PPNAD3" EXACT OMO:0003012 [] xref: MIM:614190 is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease property_value: exactMatch "MIM:614190" xsd:string [Term] id: DOID:0070549 name: primary pigmented nodular adrenocortical disease 4 def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in duplication on chromosome 19p13 that includes the PRKACA gene." [url:https\://pubmed.ncbi.nlm.nih.gov/24571724, url:https\://pubmed.ncbi.nlm.nih.gov/25924874/] subset: DO_rare_slim synonym: "chromosome 19p13 duplication syndrome" EXACT [] synonym: "PPNAD4" EXACT OMO:0003012 [] xref: MIM:615830 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease property_value: exactMatch "MIM:615830" xsd:string [Term] id: DOID:0070550 name: KRT1-related nonepidermolytic palmoplantar keratoderma def: "A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13." [url:https\://pubmed.ncbi.nlm.nih.gov/12406346/, url:https\://pubmed.ncbi.nlm.nih.gov/7528239/] subset: DO_rare_slim synonym: "KRT1-related NEPPK" EXACT [] xref: GARD:5186 xref: MIM:600962 xref: ORDO:530838 xref: UMLS_CUI:C5680142 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma property_value: exactMatch "GARD:5186" xsd:string property_value: exactMatch "MIM:600962" xsd:string property_value: exactMatch "ORDO:530838" xsd:string property_value: exactMatch "UMLS_CUI:C5680142" xsd:string [Term] id: DOID:0070551 name: epidermolytic palmoplantar keratoderma 2 def: "An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13." [url:https\://pubmed.ncbi.nlm.nih.gov/11286630/, url:https\://pubmed.ncbi.nlm.nih.gov/37122192/] subset: DO_rare_slim synonym: "EPPK2" EXACT OMO:0003012 [] xref: MIM:620411 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080223 ! epidermolytic palmoplantar keratoderma property_value: exactMatch "MIM:620411" xsd:string [Term] id: DOID:0070552 name: epidermolytic palmoplantar keratoderma 1 def: "An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2." [url:https\://pubmed.ncbi.nlm.nih.gov/12192490/, url:https\://pubmed.ncbi.nlm.nih.gov/30666268] subset: DO_rare_slim synonym: "EPPK1" EXACT OMO:0003012 [] xref: MIM:144200 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080223 ! epidermolytic palmoplantar keratoderma property_value: exactMatch "MIM:144200" xsd:string [Term] id: DOID:0070553 name: focal palmoplantar and gingival keratosis def: "A palmoplantar keratosis characterized by hyperkeratosis on the weight-bearing areas of the soles, pressure-related areas of the palms, and the labial- and lingual-attached gingiva." [url:https\://pubmed.ncbi.nlm.nih.gov/133736/, url:https\://pubmed.ncbi.nlm.nih.gov/15761417/, url:https\://pubmed.ncbi.nlm.nih.gov/33262878/] subset: DO_rare_slim synonym: "focal palmoplantar and gingival hyperkeratosis syndrome" EXACT [] xref: GARD:3098 xref: MESH:C536157 xref: MIM:148730 xref: ORDO:2200 xref: UMLS_CUI:C1835650 is_a: DOID:3390 ! palmoplantar keratosis property_value: exactMatch "GARD:3098" xsd:string property_value: exactMatch "MESH:C536157" xsd:string property_value: exactMatch "MIM:148730" xsd:string property_value: exactMatch "ORDO:2200" xsd:string property_value: exactMatch "UMLS_CUI:C1835650" xsd:string [Term] id: DOID:0070554 name: palmoplantar keratoderma and woolly hair def: "A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/24671081/, url:https\://pubmed.ncbi.nlm.nih.gov/35283492] subset: DO_rare_slim synonym: "keratoderma with woolly hair type IV" EXACT [] synonym: "PPKWH" EXACT OMO:0003012 [] synonym: "woolly hair-palmoplantar keratoderma syndrome type 4" EXACT [] xref: MIM:616099 xref: ORDO:420686 xref: UMLS_CUI:C4015202 xref: UMLS_CUI:C4706686 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:0050737 ! autosomal recessive disease property_value: exactMatch "MIM:616099" xsd:string property_value: exactMatch "ORDO:420686" xsd:string property_value: exactMatch "UMLS_CUI:C4015202" xsd:string property_value: exactMatch "UMLS_CUI:C4706686" xsd:string [Term] id: DOID:0070555 name: Nagashima-type palmoplantar keratosis def: "A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33." [url:https\://pubmed.ncbi.nlm.nih.gov/24207119/, url:https\://pubmed.ncbi.nlm.nih.gov/24773080/, url:https\://pubmed.ncbi.nlm.nih.gov/35178744/] subset: DO_rare_slim synonym: "NPPK" EXACT OMO:0003012 [] synonym: "palmoplantar keratoderma nagashima type" EXACT [] synonym: "PPKN" EXACT OMO:0003012 [] xref: MIM:615598 xref: ORDO:140966 xref: UMLS_CUI:C3810072 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:0050737 ! autosomal recessive disease property_value: exactMatch "MIM:615598" xsd:string property_value: exactMatch "ORDO:140966" xsd:string property_value: exactMatch "UMLS_CUI:C3810072" xsd:string [Term] id: DOID:0070556 name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 def: "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2." [url:https\://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/, url:https\://pubmed.ncbi.nlm.nih.gov/21885617/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1874/] subset: DO_rare_slim synonym: "CAMRQ syndrome 1" EXACT [] synonym: "CAMRQ1" EXACT OMO:0003012 [] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1" EXACT [] synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 1" EXACT [] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1" EXACT [] synonym: "cerebellar hypoplasia, VLDLR-associated" EXACT [] synonym: "DES-VLDLR" EXACT OMO:0003012 [] synonym: "dysequilibrium syndrome-VLDLR" EXACT [] synonym: "VLDLR cerebellar hypoplasia" EXACT [] synonym: "VLDLR-associated cerebellar hypoplasia" EXACT [] synonym: "VLDLR-CH" EXACT OMO:0003012 [] xref: MIM:224050 xref: UMLS_CUI:C4551552 is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome property_value: exactMatch "MIM:224050" xsd:string property_value: exactMatch "UMLS_CUI:C4551552" xsd:string [Term] id: DOID:0070557 name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 def: "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/21885617/, url:https\://pubmed.ncbi.nlm.nih.gov/22686558/] subset: DO_rare_slim synonym: "CAMRQ syndrome 2" EXACT [] synonym: "CAMRQ2" EXACT OMO:0003012 [] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2" EXACT [] synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 2" EXACT [] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" EXACT [] xref: MESH:C567656 xref: MIM:610185 xref: UMLS_CUI:C2750234 is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome property_value: exactMatch "MESH:C567656" xsd:string property_value: exactMatch "MIM:610185" xsd:string property_value: exactMatch "UMLS_CUI:C2750234" xsd:string [Term] id: DOID:0070558 name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 def: "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1." [url:https\://pubmed.ncbi.nlm.nih.gov/19461874/, url:https\://pubmed.ncbi.nlm.nih.gov/32808436/, url:https\://pubmed.ncbi.nlm.nih.gov/38581205/] subset: DO_rare_slim synonym: "CAMRQ syndrome 3" EXACT [] synonym: "CAMRQ3" EXACT OMO:0003012 [] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3" EXACT [] synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 3" EXACT [] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" EXACT [] xref: MESH:C567690 xref: MIM:613227 xref: UMLS_CUI:C2750509 is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome property_value: exactMatch "MESH:C567690" xsd:string property_value: exactMatch "MIM:613227" xsd:string property_value: exactMatch "UMLS_CUI:C2750509" xsd:string [Term] id: DOID:0070559 name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 def: "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13." [url:https\://pubmed.ncbi.nlm.nih.gov/22892528/, url:https\://pubmed.ncbi.nlm.nih.gov/31612321/] subset: DO_rare_slim synonym: "CAMRQ syndrome 4" EXACT [] synonym: "CAMRQ4" EXACT OMO:0003012 [] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4" EXACT [] synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 4" EXACT [] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4" EXACT [] xref: MIM:615268 is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome property_value: exactMatch "MIM:615268" xsd:string [Term] id: DOID:0070560 name: glucose transporter type 1 deficiency syndrome def: "A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 on chromosome 1p34.2." [url:https\://pubmed.ncbi.nlm.nih.gov/31605543/, url:https\://pubmed.ncbi.nlm.nih.gov/36315575/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1430/] synonym: "GLUT1DS" EXACT OMO:0003012 [] xref: MESH:C536830 xref: MIM:PS606777 xref: UMLS_CUI:C1847501 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:4194 ! glucose metabolism disease property_value: exactMatch "MESH:C536830" xsd:string property_value: exactMatch "MIM:PS606777" xsd:string property_value: exactMatch "UMLS_CUI:C1847501" xsd:string [Term] id: DOID:0070561 name: glucose transporter type 1 deficiency syndrome 1 def: "A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders." [url:https\://pubmed.ncbi.nlm.nih.gov/36315575/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1430/] subset: DO_rare_slim synonym: "classic glucose transporter type 1 deficiency syndrome" EXACT [] synonym: "classic GLUT1 deficiency syndrome" EXACT [] synonym: "classic GLUT1-DS" EXACT [] synonym: "De Vivo disease" EXACT [] synonym: "encephalopathy due to GLUT1 deficiency" EXACT [] synonym: "GLUT1 deficiency syndrome 1" EXACT [] synonym: "GLUT1DS1" EXACT OMO:0003012 [] xref: GARD:9265 xref: MIM:606777 xref: ORDO:71277 xref: UMLS_CUI:C4551966 is_a: DOID:0070560 ! glucose transporter type 1 deficiency syndrome property_value: exactMatch "GARD:9265" xsd:string property_value: exactMatch "MIM:606777" xsd:string property_value: exactMatch "ORDO:71277" xsd:string property_value: exactMatch "UMLS_CUI:C4551966" xsd:string [Term] id: DOID:0070562 name: Fanconi-Bickel syndrome def: "A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2." [url:https\://pubmed.ncbi.nlm.nih.gov/3153325/] comment: glycogenosis type XI is a historical and now discouraged synonym. subset: DO_rare_slim subset: NCIthesaurus synonym: "FBS" EXACT OMO:0003012 [] synonym: "glycogen storage disease XI" EXACT [] synonym: "glycogenosis type XI" EXACT [] synonym: "glycogenosis, Fanconi type" EXACT [] xref: GARD:2268 xref: MESH:D005198 xref: MIM:227810 xref: NCI:C168998 xref: ORDO:2088 xref: UMLS_CUI:C3495427 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4194 ! glucose metabolism disease property_value: exactMatch "GARD:2268" xsd:string property_value: exactMatch "MESH:D005198" xsd:string property_value: exactMatch "MIM:227810" xsd:string property_value: exactMatch "NCI:C168998" xsd:string property_value: exactMatch "ORDO:2088" xsd:string property_value: exactMatch "UMLS_CUI:C3495427" xsd:string [Term] id: DOID:0070563 name: glucose-galactose malabsorption def: "A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3." [url:https\://pubmed.ncbi.nlm.nih.gov/20486940/] subset: DO_rare_slim synonym: "GGM" EXACT OMO:0003012 [] synonym: "monosaccharide malabsorption" EXACT [] synonym: "SGLT1 deficiency" EXACT [] xref: GARD:6521 xref: MESH:C562602 xref: MIM:606824 xref: ORDO:35710 xref: UMLS_CUI:C0268186 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4194 ! glucose metabolism disease property_value: exactMatch "GARD:6521" xsd:string property_value: exactMatch "MESH:C562602" xsd:string property_value: exactMatch "MIM:606824" xsd:string property_value: exactMatch "ORDO:35710" xsd:string property_value: exactMatch "UMLS_CUI:C0268186" xsd:string [Term] id: DOID:0070564 name: dialysis disequilibrium syndrome def: "A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma." [url:https\://pubmed.ncbi.nlm.nih.gov/26120445, url:https\://www.ncbi.nlm.nih.gov/books/NBK559018/] subset: NCIthesaurus synonym: "DDS" EXACT OMO:0003012 [] synonym: "dialysis dysequilibrium syndrome" EXACT [] synonym: "disequilibrium syndrome" RELATED [] synonym: "dysequilibrium syndrome" RELATED [] xref: NCI:C114781 xref: UMLS_CUI:C0403559 is_a: DOID:225 ! syndrome property_value: exactMatch "NCI:C114781" xsd:string property_value: exactMatch "UMLS_CUI:C0403559" xsd:string [Term] id: DOID:0070565 name: spermatogenic failure 66 def: "A spermatogenic failure characterized by total globozoospermia that has_material_basis_in homozygous mutation in the ZPBP gene on chromosome 7p12.2." [url:https\://pubmed.ncbi.nlm.nih.gov/31985809/] comment: Only 1 patient reported as of 2024-08-21. synonym: "SPGF66" EXACT OMO:0003012 [] xref: MIM:619799 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112312 ! male infertility due to globozoospermia property_value: exactMatch "MIM:619799" xsd:string [Term] id: DOID:0070566 name: spermatogenic failure 67 def: "A spermatogenic failure characterized by globozoospermia that has_material_basis_in homozygous mutation in the CCDC62 gene on chromosome 12q24.31." [url:https\://pubmed.ncbi.nlm.nih.gov/31985809/] comment: Only 1 patient reported as of 2024-08-21. synonym: "SPGF67" EXACT OMO:0003012 [] xref: MIM:619803 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112312 ! male infertility due to globozoospermia property_value: exactMatch "MIM:619803" xsd:string [Term] id: DOID:0070567 name: spermatogenic failure 68 def: "A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the C2CD6 gene on chromosome 2q33.1." [url:https\://pubmed.ncbi.nlm.nih.gov/31985809/] comment: Only 1 patient reported as of 2024-08-21. synonym: "SPGF68" EXACT OMO:0003012 [] xref: MIM:619805 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:619805" xsd:string [Term] id: DOID:0070568 name: spermatogenic failure 69 def: "A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the GGN on chromosome 19q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/31985809/, url:https\://pubmed.ncbi.nlm.nih.gov/33108537/] synonym: "SPGF69" EXACT OMO:0003012 [] xref: MIM:619826 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:619826" xsd:string [Term] id: DOID:0070569 name: spermatogenic failure 70 def: "A spermatogenic failure characterized by azoospermia or sperm immotility and necrozoospermia that has_material_basis_in homozygous mutation in the PDHA2 gene on chromosome 4q22.3." [url:https\://pubmed.ncbi.nlm.nih.gov/29581481/, url:https\://pubmed.ncbi.nlm.nih.gov/35172124/] synonym: "SPGF70" EXACT OMO:0003012 [] xref: MIM:619828 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:619828" xsd:string [Term] id: DOID:0070570 name: spermatogenic failure 71 def: "A spermatogenic failure characterized by nonobstructive azoospermia that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12." [url:https\://pubmed.ncbi.nlm.nih.gov/32719396/, url:https\://pubmed.ncbi.nlm.nih.gov/33713115/] synonym: "SPGF71" EXACT OMO:0003012 [] xref: MIM:619831 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:619831" xsd:string [Term] id: DOID:0070571 name: spermatogenic failure 72 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in lack of sperm motility, that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14." [url:https\://pubmed.ncbi.nlm.nih.gov/32323121/] comment: Only 1 patient reported as of 2024-08-21. synonym: "SPGF72" EXACT OMO:0003012 [] xref: MIM:619867 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:619867" xsd:string [Term] id: DOID:0070572 name: spermatogenic failure 73 def: "A spermatogenic failure characterized by nonobstructive azoospermia due to meiotic arrest that has_material_basis_in homozygous or compound heterozygous mutation in the MOV10L1 gene on chromosome 22q13.33." [url:https\://pubmed.ncbi.nlm.nih.gov/35476666/] synonym: "SPGF73" EXACT OMO:0003012 [] xref: MIM:619878 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:619878" xsd:string [Term] id: DOID:0070573 name: spermatogenic failure 74 def: "A spermatogenic failure characterized by nonobstructive azoospermia due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21.33." [url:https\://pubmed.ncbi.nlm.nih.gov/34755185/] synonym: "SPGF74" EXACT OMO:0003012 [] xref: MIM:619937 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:619937" xsd:string [Term] id: DOID:0070574 name: spermatogenic failure 75 def: "A spermatogenic failure characterized by nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the SHOC1 gene on chromosome 9q31.3." [url:https\://pubmed.ncbi.nlm.nih.gov/32741963/, url:https\://pubmed.ncbi.nlm.nih.gov/32900840/] synonym: "SPGF75" EXACT OMO:0003012 [] xref: MIM:619949 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:619949" xsd:string [Term] id: DOID:0070575 name: spermatogenic failure 76 def: "A spermatogenic failure characterized by oligoasthenoteratozoospermia that has_material_basis_in homozygous mutation in the CCDC34 gene on chromosome 11p14.1." [url:https\://pubmed.ncbi.nlm.nih.gov/34348960/, url:https\://pubmed.ncbi.nlm.nih.gov/38856307/] synonym: "SPGF76" EXACT OMO:0003012 [] xref: MIM:620084 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620084" xsd:string [Term] id: DOID:0070576 name: spermatogenic failure 77 def: "A spermatogenic failure characterized by extreme oligozoospermia or azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/36150389/] synonym: "SPGF77" EXACT OMO:0003012 [] xref: MIM:620103 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620103" xsd:string [Term] id: DOID:0070577 name: spermatogenic failure 78 def: "A spermatogenic failure characterized by sperm with abnormal acrosome structure due to a manchette assembly defect that has_material_basis_in homozygous mutation in the IQCN gene on chromosome 19p13.11." [url:https\://pubmed.ncbi.nlm.nih.gov/36321563/] synonym: "SPGF78" EXACT OMO:0003012 [] xref: MIM:620170 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620170" xsd:string [Term] id: DOID:0070578 name: spermatogenic failure 79 def: "A spermatogenic failure characterized by an abnormal acrosome reaction and impaired membrane potential after capacitation that has_material_basis_in homozygous mutation in the KCNU1 gene on chromosome 8p11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/34980136/, url:https\://pubmed.ncbi.nlm.nih.gov/35551387/] synonym: "SPGF79" EXACT OMO:0003012 [] xref: MIM:620196 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620196" xsd:string [Term] id: DOID:0070579 name: spermatogenic failure 80 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in reduced or absent progressive sperm motility, that has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/34169321/] synonym: "SPGF80" EXACT OMO:0003012 [] xref: MIM:620222 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620222" xsd:string [Term] id: DOID:0070580 name: spermatogenic failure 81 def: "A spermatogenic failure characterized by oligoasthenoteratozoospermia with acrosomal hypoplasia and detachment of the acrosome from the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the TEKT3 gene on chromosome 17p12." [url:https\://pubmed.ncbi.nlm.nih.gov/36708031/] synonym: "SPGF81" EXACT OMO:0003012 [] xref: MIM:620277 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620277" xsd:string [Term] id: DOID:0070581 name: spermatogenic failure 82 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous mutation in the AKAP3 gene on chromosome 12p13.32." [url:https\://pubmed.ncbi.nlm.nih.gov/35228300/] synonym: "SPGF82" EXACT OMO:0003012 [] xref: MIM:620353 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620353" xsd:string [Term] id: DOID:0070582 name: spermatogenic failure 83 def: "A spermatogenic failure characterized by asthenozoospermia and multiple flagella morphological defects due to loss in the inner dynein arms that has_material_basis_in homozygous mutation in the DNALI1 gene on chromosome 1p34.3." [url:https\://pubmed.ncbi.nlm.nih.gov/36726469/, url:https\://pubmed.ncbi.nlm.nih.gov/36792588/] synonym: "SPGF83" EXACT OMO:0003012 [] xref: MIM:620354 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620354" xsd:string [Term] id: DOID:0070583 name: spermatogenic failure 84 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced motility, that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP61 gene on chromosome 20p11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/34792097/, url:https\://pubmed.ncbi.nlm.nih.gov/35387802/] synonym: "SPGF84" EXACT OMO:0003012 [] xref: MIM:620409 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620409" xsd:string [Term] id: DOID:0070584 name: spermatogenic failure 85 def: "A spermatogenic failure characterized by globozoospermia and reduced progressive motility that has_material_basis_in homozygous mutation in the SPACA1 gene on chromosome 6q15." [url:https\://pubmed.ncbi.nlm.nih.gov/34172998/] comment: Only 1 family reported as of 2024-08-21. synonym: "SPGF85" EXACT OMO:0003012 [] xref: MIM:620490 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112312 ! male infertility due to globozoospermia property_value: exactMatch "MIM:620490" xsd:string [Term] id: DOID:0070585 name: spermatogenic failure 86 def: "A spermatogenic failure characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure, that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL7A gene on chromosome 9q31.3." [url:https\://pubmed.ncbi.nlm.nih.gov/32923619/, url:https\://pubmed.ncbi.nlm.nih.gov/34727571/] synonym: "SPGF86" EXACT OMO:0003012 [] xref: MIM:620499 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620499" xsd:string [Term] id: DOID:0070586 name: spermatogenic failure 87 def: "A spermatogenic failure characterized by total fertilization failure due to inability of mutant sperm to penetrate the zona pellucida that has_material_basis_in homozygous mutation in the ACR gene on chromosome 22q13.33." [url:https\://pubmed.ncbi.nlm.nih.gov/37004249/] comment: Only 1 family reported as of 2024-08-21. synonym: "SPGF87" EXACT OMO:0003012 [] xref: MIM:620500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620500" xsd:string [Term] id: DOID:0070587 name: spermatogenic failure 88 def: "A spermatogenic failure characterized by nonobstructive azoospermia due to prepachytene meiotic arrest of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.33." [url:https\://pubmed.ncbi.nlm.nih.gov/35587281/, url:https\://pubmed.ncbi.nlm.nih.gov/35674372/] synonym: "SPGF88" EXACT OMO:0003012 [] xref: MIM:620547 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620547" xsd:string [Term] id: DOID:0070588 name: spermatogenic failure 89 def: "A spermatogenic failure characterized by severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the AK9 gene on chromosome 6q21." [url:https\://pubmed.ncbi.nlm.nih.gov/37713809/] synonym: "SPGF89" EXACT OMO:0003012 [] xref: MIM:620705 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620705" xsd:string [Term] id: DOID:0070589 name: spermatogenic failure 90 def: "A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC12 gene on chromosome 6p21.31." [url:https\://pubmed.ncbi.nlm.nih.gov/35534203/] synonym: "SPGF90" EXACT OMO:0003012 [] xref: MIM:620744 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620744" xsd:string [Term] id: DOID:0070590 name: spermatogenic failure 91 def: "A spermatogenic failure characterized by teratozoospermia, consisting of a misshapen rounded sperm head and detachment of the acrosome, and sperm that fail to attach to the zona pellucida that has_material_basis_in homozygous or compound heterozygous mutation in the CCIN gene on chromosome 9p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/31985809/, url:https\://pubmed.ncbi.nlm.nih.gov/36546111/] synonym: "SPGF91" EXACT OMO:0003012 [] xref: MIM:620838 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620838" xsd:string [Term] id: DOID:0070591 name: spermatogenic failure 92 def: "A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous mutation in the LRRC23 gene on chromosome 12p13.31." [url:https\://pubmed.ncbi.nlm.nih.gov/37804054/, url:https\://pubmed.ncbi.nlm.nih.gov/38091523/] synonym: "SPGF92" EXACT OMO:0003012 [] xref: MIM:620848 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620848" xsd:string [Term] id: DOID:0070592 name: spermatogenic failure 93 def: "A spermatogenic failure characterized by nonosbtructive azoospermia or multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the STK33 gene on chromosome 11p15.4." [url:https\://pubmed.ncbi.nlm.nih.gov/34155512/] synonym: "SPGF93" EXACT OMO:0003012 [] xref: MIM:620849 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620849" xsd:string [Term] id: DOID:0070593 name: spermatogenic failure 94 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CCDC146 gene on chromosome 7q11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/38441556/] synonym: "SPGF94" EXACT OMO:0003012 [] xref: MIM:620850 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620850" xsd:string [Term] id: DOID:0070594 name: spermatogenic failure 95 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CFAP57 gene on chromosome 1p34.2." [url:https\://pubmed.ncbi.nlm.nih.gov/36752199/] synonym: "SPGF95" EXACT OMO:0003012 [] xref: MIM:620917 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:620917" xsd:string [Term] id: DOID:0070595 name: X-linked spermatogenic failure 4 def: "A spermatogenic failure characterized by azoospermia or oligoasthenoteratozoospermia that has_material_basis_in hemizygous mutation in the GCNA gene on chromosome Xq13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/33963445/, url:https\://pubmed.ncbi.nlm.nih.gov/34413498/, url:https\://pubmed.ncbi.nlm.nih.gov/35172124/] synonym: "SPGFX4" EXACT OMO:0003012 [] xref: MIM:301077 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:301077" xsd:string [Term] id: DOID:0070596 name: X-linked spermatogenic failure 5 def: "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the SSX1 gene on chromosome Xp11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/36796361/] synonym: "SPGFX5" EXACT OMO:0003012 [] xref: MIM:301099 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:301099" xsd:string [Term] id: DOID:0070597 name: X-linked spermatogenic failure 6 def: "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the USP26 gene on chromosome Xq26.2." [url:https\://pubmed.ncbi.nlm.nih.gov/34202084/] synonym: "SPGFX6" EXACT OMO:0003012 [] xref: MIM:301101 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:301101" xsd:string [Term] id: DOID:0070598 name: X-linked spermatogenic failure 7 def: "A spermatogenic failure characterized by sperm with insufficient individualization, excessive residual cytoplasm, acrosome defects, and abnormalities of the head and flagella, resulting in significantly reduced sperm concentration and progressive motility, that has_material_basis_in hemizygous mutation in the CT55 gene on chromosome Xq26.3." [url:https\://pubmed.ncbi.nlm.nih.gov/36481789/] comment: Only 1 family reported as of 2024-08-21. synonym: "SPGFX7" EXACT OMO:0003012 [] xref: MIM:301106 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:301106" xsd:string [Term] id: DOID:0070599 name: X-linked spermatogenic failure 8 def: "A spermatogenic failure characterized by sperm with head and midpiece defects, deformed and detached acrosomes, and markedly reduced progressive motility that has_material_basis_in hemizygous mutation in the CYLC1 gene on chromosome Xq21.1." [url:https\://pubmed.ncbi.nlm.nih.gov/38013430/, url:https\://pubmed.ncbi.nlm.nih.gov/38573307/] synonym: "SPGFX8" EXACT OMO:0003012 [] xref: MIM:301119 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111910 ! spermatogenic failure property_value: exactMatch "MIM:301119" xsd:string [Term] id: DOID:0070600 name: intellectual disability and myopathy syndrome def: "A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 on chromosome 12p12." [url:https\://pubmed.ncbi.nlm.nih.gov/31575858/] {comment="url:https://pubmed.ncbi.nlm.nih.gov/38217872/"} synonym: "ABCC9-related intellectual disability and myopathy" EXACT [] synonym: "AIMS" EXACT OMO:0003012 [] synonym: "IDMYS" EXACT OMO:0003012 [] xref: MIM:619719 is_a: DOID:225 ! syndrome property_value: exactMatch "MIM:619719" xsd:string [Term] id: DOID:0070601 name: autosomal dominant nonsyndromic deafness 37 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1." [url:https\://pubmed.ncbi.nlm.nih.gov/30245514/, url:https\://pubmed.ncbi.nlm.nih.gov/33169910/, url:https\://pubmed.ncbi.nlm.nih.gov/33605226/] synonym: "autosomal dominant deafness 37" EXACT [] synonym: "DFNA37" EXACT OMO:0003012 [] xref: MIM:618533 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness property_value: exactMatch "MIM:618533" xsd:string [Term] id: DOID:0070602 name: autosomal dominant nonsyndromic deafness 80 def: "An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11." [url:https\://pubmed.ncbi.nlm.nih.gov/29955957/, url:https\://pubmed.ncbi.nlm.nih.gov/32585897/] synonym: "autosomal dominant deafness 80" EXACT [] synonym: "DFNA80" EXACT OMO:0003012 [] xref: MIM:619274 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness property_value: exactMatch "MIM:619274" xsd:string [Term] id: DOID:0070603 name: autosomal dominant nonsyndromic deafness 82 def: "An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1." [url:https\://pubmed.ncbi.nlm.nih.gov/30535804/] synonym: "autosomal dominant deafness 82" EXACT [] synonym: "DFNA82" EXACT OMO:0003012 [] xref: MIM:619804 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness property_value: exactMatch "MIM:619804" xsd:string [Term] id: DOID:0070604 name: autosomal dominant nonsyndromic deafness 84 def: "An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34." [url:https\://pubmed.ncbi.nlm.nih.gov/35278131/] synonym: "autosomal dominant deafness 84" EXACT [] synonym: "DFNA84" EXACT OMO:0003012 [] xref: MIM:619810 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness property_value: exactMatch "MIM:619810" xsd:string [Term] id: DOID:0070605 name: autosomal dominant nonsyndromic deafness 85 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36." [url:https\://pubmed.ncbi.nlm.nih.gov/34059922/] synonym: "autosomal dominant deafness 85" EXACT [] synonym: "DFNA85" EXACT OMO:0003012 [] xref: MIM:620227 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness property_value: exactMatch "MIM:620227" xsd:string [Term] id: DOID:0070606 name: autosomal dominant nonsyndromic deafness 87 def: "An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21." [url:https\://pubmed.ncbi.nlm.nih.gov/33358777/] synonym: "autosomal dominant deafness 87" EXACT [] synonym: "DFNA87" EXACT OMO:0003012 [] xref: MIM:620281 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness property_value: exactMatch "MIM:620281" xsd:string [Term] id: DOID:0070607 name: autosomal dominant nonsyndromic deafness 90 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MYO3A gene on chromosome 10p12." [url:https\://pubmed.ncbi.nlm.nih.gov/29880844/, url:https\://pubmed.ncbi.nlm.nih.gov/32519820/] synonym: "autosomal dominant deafness 90" EXACT [] synonym: "DFNA90" EXACT OMO:0003012 [] xref: MIM:620722 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness property_value: exactMatch "MIM:620722" xsd:string [Term] id: DOID:0070608 name: autosomal dominant nonsyndromic deafness 81 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ELMOD3 gene on chromosome 2p11." [url:https\://pubmed.ncbi.nlm.nih.gov/29713870/] comment: Only one family reported as of 2024-09-20. synonym: "autosomal dominant deafness 81" EXACT [] synonym: "DFNA81" EXACT OMO:0003012 [] xref: MIM:619500 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness property_value: exactMatch "MIM:619500" xsd:string [Term] id: DOID:0070609 name: autosomal dominant nonsyndromic deafness 83 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13." [url:https\://pubmed.ncbi.nlm.nih.gov/33268592/] comment: Only one family reported as of 2024-09-20. synonym: "autosomal dominant deafness 83" EXACT [] synonym: "DFNA83" EXACT OMO:0003012 [] xref: MIM:619808 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness property_value: exactMatch "MIM:619808" xsd:string [Term] id: DOID:0070610 name: autosomal dominant nonsyndromic deafness 86 def: "An autosomal dominant nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that has_material_basis_in heterozygous mutation in the THOC1 gene on chromosome 18p11." [url:https\://pubmed.ncbi.nlm.nih.gov/32776944/] comment: Only one family reported as of 2024-09-20. synonym: "autosomal dominant deafness 86" EXACT [] synonym: "DFNA86" EXACT OMO:0003012 [] xref: MIM:620280 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness property_value: exactMatch "MIM:620280" xsd:string [Term] id: DOID:0070611 name: autosomal dominant nonsyndromic deafness 88 def: "An autosomal dominant nonsyndromic deafness characterized by postlingual progressive severe sensorineural hearing loss with tinnitus that has_material_basis_in heterozygous mutation in the EPHA10 gene on chromosome 1p34." [url:https\://pubmed.ncbi.nlm.nih.gov/21651318/, url:https\://pubmed.ncbi.nlm.nih.gov/36048850/] comment: Only one family reported as of 2024-09-20. synonym: "autosomal dominant deafness 88" EXACT [] synonym: "DFNA88" EXACT OMO:0003012 [] xref: MIM:620283 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness property_value: exactMatch "MIM:620283" xsd:string [Term] id: DOID:0070612 name: autosomal dominant nonsyndromic deafness 89 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ATOH1 gene on chromosome 4q22." [url:https\://pubmed.ncbi.nlm.nih.gov/33111345/] comment: Only one family reported as of 2024-09-20. synonym: "autosomal dominant deafness 89" EXACT [] synonym: "DFNA89" EXACT OMO:0003012 [] xref: MIM:620284 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness property_value: exactMatch "MIM:620284" xsd:string [Term] id: DOID:0070613 name: familial renal glucosuria def: "A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/19965550/, url:https\://pubmed.ncbi.nlm.nih.gov/30942416/] subset: DO_rare_slim synonym: "familial renal glycosuria" EXACT [] synonym: "FRG" EXACT OMO:0003012 [] synonym: "hereditary renal glycosuria" EXACT [] synonym: "SGLT2 deficiency" EXACT [] xref: GARD:7548 xref: MESH:D006030 xref: MIM:233100 xref: ORDO:69076 xref: SNOMEDCT_US_2023_03_01:226309007 xref: UMLS_CUI:C3245525 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9432 ! renal glycosuria property_value: exactMatch "GARD:7548" xsd:string property_value: exactMatch "MESH:D006030" xsd:string property_value: exactMatch "MIM:233100" xsd:string property_value: exactMatch "ORDO:69076" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:226309007" xsd:string property_value: exactMatch "UMLS_CUI:C3245525" xsd:string [Term] id: DOID:0070614 name: chromosome 11 partial duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in one or more extra copies of a region of chromosome 11." [url:https\://medlineplus.gov/genetics/chromosome/11/] subset: DO_rare_slim synonym: "partial duplication of chromosome 11" EXACT [] synonym: "partial trisomy 11" EXACT [] xref: ORDO:262653 xref: SNOMEDCT_US_2023_03_01:726350006 xref: UMLS_CUI:C4518499 is_a: DOID:0060429 ! chromosomal duplication syndrome property_value: exactMatch "ORDO:262653" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:726350006" xsd:string property_value: exactMatch "UMLS_CUI:C4518499" xsd:string [Term] id: DOID:0070615 name: autoinflammation, antibody deficiency, and immune dysregulation syndrome def: "An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in PLCG2 on chromosome 16q23." [url:https\://pubmed.ncbi.nlm.nih.gov/23000145/, url:https\://pubmed.ncbi.nlm.nih.gov/30619256/] subset: DO_rare_slim synonym: "APLAID" EXACT OMO:0003012 [] synonym: "autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation" EXACT [] xref: GARD:17486 xref: MIM:614878 xref: ORDO:324530 xref: UMLS_CUI:C3553961 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease property_value: exactMatch "GARD:17486" xsd:string property_value: exactMatch "MIM:614878" xsd:string property_value: exactMatch "ORDO:324530" xsd:string property_value: exactMatch "UMLS_CUI:C3553961" xsd:string [Term] id: DOID:0070616 name: glycine encephalopathy 1 def: "A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24." [url:https\://medlineplus.gov/genetics/condition/nonketotic-hyperglycinemia/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1357/] synonym: "GCE1" EXACT OMO:0003012 [] xref: MIM:605899 is_a: DOID:9268 ! glycine encephalopathy property_value: exactMatch "MIM:605899" xsd:string [Term] id: DOID:0070617 name: rhabdoid tumor predisposition syndrome def: "A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children." [url:https\://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome/, url:https\://www.ncbi.nlm.nih.gov/books/NBK469816/] subset: DO_rare_slim subset: NCIthesaurus synonym: "familial posterior fossa brain tumor syndrome of infancy" EXACT [] synonym: "rhabdoid predisposition syndrome" EXACT [] synonym: "RTPS" EXACT OMO:0003012 [] xref: MIM:PS609322 xref: NCI:C93268 xref: ORDO:231108 xref: UMLS_CUI:C2985524 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome property_value: exactMatch "MIM:PS609322" xsd:string property_value: exactMatch "NCI:C93268" xsd:string property_value: exactMatch "ORDO:231108" xsd:string property_value: exactMatch "UMLS_CUI:C2985524" xsd:string [Term] id: DOID:0070618 name: rhabdoid tumor predisposition syndrome 1 def: "A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11." [url:https\://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome/, url:https\://www.ncbi.nlm.nih.gov/books/NBK469816/] subset: DO_rare_slim synonym: "RTPS1" EXACT OMO:0003012 [] xref: MIM:609322 is_a: DOID:0070617 ! rhabdoid tumor predisposition syndrome property_value: exactMatch "MIM:609322" xsd:string [Term] id: DOID:0070619 name: mitochondrial trifunctional protein deficiency 1 def: "A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/12754706/] synonym: "MTPD1" EXACT [] {http://purl.org/dc/elements/1.1/type="OMO:0003012"} xref: MIM:609015 is_a: DOID:0111277 ! mitochondrial trifunctional protein deficiency property_value: exactMatch "MIM:609015" xsd:string [Term] id: DOID:0080000 name: muscular disease def: "A musculoskeletal system disease that affects the muscles." [url:http\://www.nlm.nih.gov/medlineplus/muscledisorders.html] is_a: DOID:17 ! musculoskeletal system disease [Term] id: DOID:0080001 name: bone disease alt_id: DOID:1290 def: "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function." [url:http\://en.wikipedia.org/wiki/Bone_disease] synonym: "skeletal disease" RELATED [] xref: ICD10CM:M89.9 xref: MESH:D001847 xref: SNOMEDCT_US_2023_03_01:76069003 xref: UMLS_CUI:C0005940 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:0080005 name: bone remodeling disease def: "A bone disease that results_in formation or resorption abnormalities located_in bone." [url:http\://en.wikipedia.org/wiki/Bone_remodeling] is_a: DOID:0080001 ! bone disease [Term] id: DOID:0080006 name: bone development disease def: "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." [url:http\://en.wikipedia.org/wiki/Dysplasia] is_a: DOID:0080001 ! bone disease [Term] id: DOID:0080007 name: bone deterioration disease def: "A bone structure disease that results_in change or damage of structure located_in bone." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/004015.htm] is_a: DOID:0080010 ! bone structure disease [Term] id: DOID:0080008 name: ischemic bone disease def: "A bone disease that results_in an interruption of blood supply located_in bone." [url:http\://en.wikipedia.org/wiki/Avascular_necrosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/007260.htm] is_a: DOID:0080001 ! bone disease [Term] id: DOID:0080009 name: X-linked dominant disease def: "A X-linked monogenic disease that has_material_basis_in dominant inheritance." [url:https\://en.wikipedia.org/wiki/X-linked_dominant_inheritance] is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:0080010 name: bone structure disease def: "A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure." [url:http\://en.wikipedia.org/wiki/Human_skeleton] is_a: DOID:0080001 ! bone disease [Term] id: DOID:0080011 name: bone resorption disease def: "A bone remodeling disease that results in an abnormal decrease of bone density or mass." [url:http\://en.wikipedia.org/wiki/Bone_resorption, url:https\://www.ncbi.nlm.nih.gov/pubmed/11277085] xref: MESH:D001862 is_a: DOID:0080005 ! bone remodeling disease [Term] id: DOID:0080012 name: X-linked recessive disease def: "A X-linked monogenic disease that has_material_basis_in recessive inheritance." [url:https\://en.wikipedia.org/wiki/X-linked_recessive_inheritance] is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:0080013 name: obsolete mitochondrial disease is_obsolete: true [Term] id: DOID:0080014 name: chromosomal disease def: "A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes." [url:http\://en.wikipedia.org/wiki/Chromosome_abnormality, url:https\://www.genome.gov/about-genomics/fact-sheets/Chromosome-Abnormalities-Fact-Sheet] subset: DO_AGR_slim subset: DO_GXD_slim subset: DO_MGI_slim is_a: DOID:630 ! genetic disease [Term] id: DOID:0080015 name: physical disorder def: "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment." [url:http\://en.wikipedia.org/wiki/Congenital_disorder] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim synonym: "congenital disorder" EXACT [] is_a: DOID:4 ! disease [Term] id: DOID:0080016 name: spina bifida def: "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development." [url:https\://en.wikipedia.org/wiki/Spina_bifida, url:https\://ghr.nlm.nih.gov/condition/spina-bifida] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7673 xref: ICD10CM:Q05 xref: ICD9CM:741 xref: MESH:D016135 xref: NCI:C101214 xref: SNOMEDCT_US_2023_03_01:156888006 xref: UMLS_CUI:C0080178 is_a: DOID:0080074 ! neural tube defect property_value: exactMatch "MESH:D016135" xsd:string property_value: exactMatch "NCI:C101214" xsd:string [Term] id: DOID:0080017 name: obsolete olivopontocerebellar atrophy V synonym: "OPCA type 5" EXACT [] synonym: "OPCA with dementia and extrapyramidal signs" EXACT [] is_obsolete: true [Term] id: DOID:0080018 name: dysbaric osteonecrosis def: "An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone." [url:http\://en.wikipedia.org/wiki/Dysbaric_osteonecrosis] synonym: "Caisson disease of bone" EXACT [] synonym: "DON" EXACT OMO:0003012 [] is_a: DOID:0080008 ! ischemic bone disease [Term] id: DOID:0080019 name: metaphyseal dysplasia def: "An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone." [url:http\://en.wikipedia.org/wiki/Metaphyseal_dysplasia] synonym: "Bakwin-Krida syndrome" EXACT [] synonym: "Pyle's disease" EXACT [] synonym: "Pyle-Cohn syndrome" EXACT [] xref: MIM:215050 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080020 name: Jansen's metaphyseal chondrodysplasia def: "A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism." [url:http\://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia, url:http\://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype] synonym: "Jansen Disease" EXACT [] synonym: "Jansen metaphyseal chondrodysplasia" EXACT [] synonym: "Jansen Metaphyseal Dysostosis" EXACT [] synonym: "Murk Jansen Type Metaphyseal Chondrodysplasia" EXACT [] xref: MIM:156400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080019 ! metaphyseal dysplasia [Term] id: DOID:0080021 name: Schmid metaphyseal chondrodysplasia def: "A metaphyseal dysplasia that results_in dwarfism and bowed legs." [url:http\://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia, url:http\://www.ncbi.nlm.nih.gov/omim/156500] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Japanese type spondylometaphyseal dysplasia" EXACT [] synonym: "Schmid type metaphyseal dysplasia" EXACT [] xref: GARD:7029 xref: MIM:156500 is_a: DOID:0080019 ! metaphyseal dysplasia [Term] id: DOID:0080022 name: obsolete McKusick type metaphyseal dysplasia is_obsolete: true [Term] id: DOID:0080023 name: obsolete Shwachman-Diamond type metaphyseal dysplasia is_obsolete: true [Term] id: DOID:0080024 name: obsolete Pyles dysplasia is_obsolete: true [Term] id: DOID:0080026 name: otospondylomegaepiphyseal dysplasia, autosomal recessive def: "An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss." [url:http\://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia, url:http\://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia, url:http\://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm, url:http\://www.ncbi.nlm.nih.gov/omim/215150] comment: OMIM mapping confirmed by DO. [SN]. synonym: "CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS" EXACT [] synonym: "NANCE-INSLEY SYNDROME" EXACT [] synonym: "NANCE-SWEENEY CHONDRODYSPLASIA" EXACT [] synonym: "OSMEDB" EXACT OMO:0003012 [] xref: MIM:215150 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080027 name: spondyloepimetaphyseal dysplasia def: "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis." [url:http\://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia] is_a: DOID:0060564 ! spinal disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080028 name: spondyloepimetaphyseal dysplasia, Strudwick type def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)." [url:http\://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia\,_Strudwick_type, url:http\://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:134 xref: MIM:184250 xref: ORDO:93346 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:0080029 name: autosomal recessive spinocerebellar ataxia 16 def: "An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24113144] synonym: "SCAR16" EXACT OMO:0003012 [] xref: MIM:615768 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2015-10-07T14:55:44Z [Term] id: DOID:0080030 name: spondyloepimetaphyseal dysplasia, Missouri type def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities." [url:https\://pubmed.ncbi.nlm.nih.gov/16167086/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:10618 xref: MESH:C566574 xref: MIM:602111 xref: ORDO:93356 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:0080031 name: fibrous dysplasia def: "A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue." [url:http\://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00083, url:http\://www.mayoclinic.com/health/fibrous-dysplasia/DS00991, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001234.htm] subset: DO_cancer_slim subset: DO_rare_slim xref: GARD:6444 xref: ICDO:8818/0 is_a: DOID:0080005 ! bone remodeling disease [Term] id: DOID:0080032 name: craniodiaphyseal dysplasia def: "An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal." [url:http\://en.wikipedia.org/wiki/Craniodiaphyseal_dysplasia, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1513] subset: DO_rare_slim xref: GARD:1567 xref: MESH:C562940 xref: MIM:218300 is_a: DOID:4254 ! osteosclerosis property_value: exactMatch "MESH:C562940" xsd:string [Term] id: DOID:0080033 name: craniometaphyseal dysplasia def: "An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses." [url:http\://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia, url:https\://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/, url:https\://www.ncbi.nlm.nih.gov/books/NBK154653/] comment: Xref MGI. subset: DO_rare_slim xref: MIM:PS123000 xref: ORDO:1522 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:0080034 name: obsolete endosteal hyperostosis def: "A hyperostosis of endosteal bone." [url:http\://www.medcyclopaedia.com/library/topics/volume_iii_1/e/endosteal_hyperostosis.aspx] is_obsolete: true [Term] id: DOID:0080036 name: SOST-related sclerosing bone dysplasia alt_id: DOID:0080035 def: "A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull." [url:http\://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia] subset: DO_rare_slim synonym: "van Buchem disease" EXACT [] xref: GARD:4771 xref: MIM:239100 xref: ORDO:3152 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:205 ! hyperostosis [Term] id: DOID:0080037 name: Worth syndrome alt_id: DOID:0111372 def: "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate." [url:http\://en.wikipedia.org/wiki/Worth_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/29709743, url:https\://www.ncbi.nlm.nih.gov/pubmed/12579474, url:https\://www.ncbi.nlm.nih.gov/pubmed/4942110] subset: DO_rare_slim synonym: "autosomal dominant endosteal hyperostosis" EXACT [] synonym: "autosomal dominant osteosclerosis" EXACT [] synonym: "benign form of Worth hyperostosis corticalis generalisata with torus platinus" EXACT [] synonym: "Worth's syndrome" EXACT [] xref: GARD:390 xref: MESH:C536748 xref: MIM:144750 xref: ORDO:2790 xref: SNOMEDCT_US_2023_03_01:254131007 xref: UMLS_CUI:C0432273 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:205 ! hyperostosis [Term] id: DOID:0080038 name: pycnodysostosis def: "An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges." [url:http\://en.wikipedia.org/wiki/Pycnodysostosis] subset: DO_rare_slim xref: GARD:4611 xref: MESH:D058631 xref: MIM:265800 xref: ORDO:763 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080039 name: axial osteomalacia def: "An osteosclerosis that results_in coarsening located_in trabecular bone." [url:http\://en.wikipedia.org/wiki/Axial_osteomalacia, url:http\://rarediseases.info.nih.gov/GARD/Condition/8431/Axial_osteomalacia.aspx, url:http\://www.ncbi.nlm.nih.gov/omim/109130] subset: DO_rare_slim xref: GARD:8431 xref: MESH:C537791 xref: MIM:109130 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:0080040 name: fibrogenesis imperfecta ossium def: "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7559718] synonym: "Baker's disease" EXACT [] is_a: DOID:225 ! syndrome [Term] id: DOID:0080041 name: hypochondroplasia def: "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." [url:http\://en.wikipedia.org/wiki/Hypochondroplasia, url:http\://ghr.nlm.nih.gov/condition/hypochondroplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1477/] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6724 xref: ICD10CM:Q77.4 xref: MESH:C562937 xref: MIM:146000 xref: NCI:C118697 xref: ORDO:429 xref: SNOMEDCT_US_2023_03_01:205468002 xref: UMLS_CUI:C0410529 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080042 name: autosomal recessive spinocerebellar ataxia 18 def: "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24078737] synonym: "SCAR18" EXACT OMO:0003012 [] xref: MIM:616204 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2015-10-07T14:55:44Z [Term] id: DOID:0080043 name: achondrogenesis def: "An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period." [url:http\://en.wikipedia.org/wiki/Achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001247.htm, url:http\://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis] subset: DO_rare_slim xref: GARD:2882 xref: MESH:C579878 xref: MIM:PS200600 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080044 name: hypochondrogenesis def: "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen." [url:http\://en.wikipedia.org/wiki/Hypochondrogenesis, url:http\://ghr.nlm.nih.gov/condition/hypochondrogenesis, url:http\://www.healthline.com/galecontent/hypochondrogenesis] xref: MESH:C563007 is_a: DOID:0050177 ! monogenic disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080045 name: Kniest dysplasia def: "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face." [url:http\://ghr.nlm.nih.gov/condition/kniest-dysplasia, url:http\://www.ksginfo.org/kniest.html] subset: DO_rare_slim xref: GARD:6841 xref: MESH:C537207 xref: MIM:156550 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080046 name: Stickler syndrome def: "A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems." [url:https\://en.wikipedia.org/wiki/Stickler_syndrome, url:https\://ghr.nlm.nih.gov/condition/stickler-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1302/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:10782 xref: MIM:PS108300 xref: ORDO:828 is_a: DOID:225 ! syndrome [Term] id: DOID:0080047 name: pseudoachondroplasia alt_id: DOID:14800 def: "An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism." [url:http\://en.wikipedia.org/wiki/Pseudoachondroplasia, url:http\://ghr.nlm.nih.gov/condition/pseudoachondroplasia, url:http\://www.healthline.com/galecontent/pseudoachondroplasia, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0, url:http\://www.wheelessonline.com/ortho/pseudoachondroplasia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "pseudoachondroplastic dysplasia" EXACT [] synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC" EXACT [] xref: GARD:4540 xref: MESH:C535819 xref: MIM:177170 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080048 name: obsolete trichorhinophalangeal syndrome I is_obsolete: true [Term] id: DOID:0080049 name: acromesomelic dysplasia def: "An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism." [url:http\://www.webmd.com/a-to-z-guides/acromesomelic-dysplasia, url:https\://rarediseases.org/rare-diseases/acromesomelic-dysplasia/] subset: DO_rare_slim xref: GARD:6 xref: MESH:C535658 xref: ORDO:93437 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080050 name: acromesomelic dysplasia, Maroteaux type def: "An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments." [url:http\://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf, url:https\://en.wikipedia.org/wiki/Acromesomelic_dysplasia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "acromesomelic dysplasia-1" EXACT [] xref: GARD:507 xref: MESH:C535661 xref: MIM:602875 xref: ORDO:40 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060564 ! spinal disease is_a: DOID:0080049 ! acromesomelic dysplasia [Term] id: DOID:0080051 name: acromesomelic dysplasia, Hunter-Thompson type def: "An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot." [url:http\://www.orpha.net/data/patho/GB/uk-hunter05.pdf, url:https\://en.wikipedia.org/wiki/Acromesomelic_dysplasia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "acromesomelic dwarfism" EXACT [] synonym: "acromesomelic dysplasia-2C" EXACT [] xref: GARD:506 xref: MIM:201250 xref: ORDO:968 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080049 ! acromesomelic dysplasia [Term] id: DOID:0080052 name: acromesomelic dysplasia, Grebe type def: "An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones." [url:http\://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf, url:https\://en.wikipedia.org/wiki/Acromesomelic_dysplasia] subset: DO_rare_slim synonym: "acromesomelic dysplasia-2A" EXACT [] synonym: "grebe chondrodysplasia" EXACT [] xref: GARD:1300 xref: MIM:200700 xref: ORDO:2098 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080049 ! acromesomelic dysplasia [Term] id: DOID:0080053 name: Albright's hereditary osteodystrophy def: "An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face." [url:http\://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5770, url:http\://www.orpha.net/data/patho/Pro/en/Albright-FRenPro1314.pdf] subset: DO_rare_slim synonym: "Albright hereditary osteodystrophy" EXACT [] synonym: "pseudohypoparathyroidism type 1a" EXACT [] xref: GARD:5770 xref: MESH:C537045 xref: MIM:103580 is_a: DOID:4184 ! pseudohypoparathyroidism [Term] id: DOID:0080054 name: achondrogenesis type IA def: "An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine." [url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_1A] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "achondrogenesis Houston-Harris type" EXACT [] xref: GARD:459 xref: MIM:200600 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060564 ! spinal disease is_a: DOID:0080043 ! achondrogenesis [Term] id: DOID:0080055 name: achondrogenesis type IB def: "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." [url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_1B, url:http\://ghr.nlm.nih.gov/condition/achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1516/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "achondrogenesis Fraccaro type" EXACT [] xref: GARD:460 xref: MIM:600972 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080043 ! achondrogenesis [Term] id: DOID:0080056 name: achondrogenesis type II def: "An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis." [url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_2, url:http\://ghr.nlm.nih.gov/condition/achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:8713 xref: MESH:C536017 xref: MIM:200610 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080043 ! achondrogenesis [Term] id: DOID:0080057 name: autosomal recessive spinocerebellar ataxia 15 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20826435] synonym: "SCAR15" EXACT OMO:0003012 [] xref: MIM:615705 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2015-10-07T14:55:44Z [Term] id: DOID:0080058 name: autosomal recessive spinocerebellar ataxia 14 def: "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23236289] synonym: "SCAR14" EXACT OMO:0003012 [] xref: MIM:615386 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2015-10-07T14:55:44Z [Term] id: DOID:0080059 name: autosomal recessive spinocerebellar ataxia 7 def: "An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15." [url:https\://ghr.nlm.nih.gov/gene/TPP1, url:https\://www.ncbi.nlm.nih.gov/pubmed/26224725] subset: DO_rare_slim synonym: "SCAR7" EXACT OMO:0003012 [] xref: GARD:12232 xref: MIM:609270 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2015-10-07T14:55:44Z [Term] id: DOID:0080060 name: autosomal recessive spinocerebellar ataxia 12 def: "An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24369382] synonym: "SCAR12" EXACT OMO:0003012 [] xref: MIM:614322 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2015-10-07T14:55:44Z [Term] id: DOID:0080061 name: autosomal recessive spinocerebellar ataxia 2 def: "An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34." [url:https\://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia, url:https\://www.omim.org/entry/606002] synonym: "SCAR2" EXACT OMO:0003012 [] xref: MIM:213200 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2015-10-07T14:55:44Z [Term] id: DOID:0080062 name: autosomal recessive spinocerebellar ataxia 13 def: "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22901947] synonym: "SCAR13" EXACT OMO:0003012 [] xref: MIM:614831 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2015-10-07T14:55:44Z [Term] id: DOID:0080063 name: autosomal recessive spinocerebellar ataxia 11 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21835308] synonym: "SCAR11" EXACT OMO:0003012 [] xref: MIM:614229 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2015-10-07T14:55:44Z [Term] id: DOID:0080064 name: autosomal recessive spinocerebellar ataxia 17 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26197978] synonym: "SCAR17" EXACT OMO:0003012 [] xref: MIM:616127 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2015-10-07T14:55:44Z [Term] id: DOID:0080065 name: autosomal recessive spinocerebellar ataxia 19 def: "An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25205112] synonym: "Lichtenstein-Knorr syndrome" EXACT [] synonym: "SCAR19" EXACT OMO:0003012 [] xref: MIM:616291 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2015-10-07T14:55:44Z [Term] id: DOID:0080066 name: autosomal recessive spinocerebellar ataxia 20 def: "An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25439728] synonym: "SCAR20" EXACT OMO:0003012 [] xref: MIM:616354 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: lschriml creation_date: 2015-10-07T14:55:44Z [Term] id: DOID:0080067 name: Charcot-Marie-Tooth disease type 5 def: "A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait." [url:https\://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications, url:https\://www.ncbi.nlm.nih.gov/pubmed/12601114] synonym: "hereditary motor and sensory neuropathy with pyramidal features" EXACT [] xref: MIM:600361 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: lschriml creation_date: 2015-10-08T16:55:50Z [Term] id: DOID:0080068 name: Charcot-Marie-Tooth disease type 6 def: "A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity." [url:https\://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications, url:https\://www.ncbi.nlm.nih.gov/pubmed/26168012] synonym: "hereditary motor and sensory neuropathy type 6" EXACT [] xref: MIM:601152 xref: MIM:616505 is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: lschriml creation_date: 2015-10-08T16:55:50Z [Term] id: DOID:0080069 name: Charcot-Marie-Tooth disease type 7 def: "A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25491489] is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: lschriml creation_date: 2015-10-08T16:55:50Z [Term] id: DOID:0080070 name: mucolipidosis II alpha/beta def: "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene." [url:https\://en.wikipedia.org/wiki/I-cell_disease, url:https\://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta, url:https\://pubmed.ncbi.nlm.nih.gov/16116615/, url:https\://rarediseases.org/rare-diseases/i-cell-disease/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1828/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336676/] subset: DO_rare_slim synonym: "I-cell disease" EXACT [] synonym: "inclusion-cell disease" EXACT [] synonym: "mucolipidosis II" EXACT [] xref: GARD:6749 xref: MIM:252500 is_a: DOID:0080488 ! mucolipidosis created_by: lschriml creation_date: 2015-10-08T17:58:48Z [Term] id: DOID:0080071 name: mucolipidosis III alpha/beta def: "A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase." [url:https\://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta] subset: DO_rare_slim synonym: "mucolipidosis III" EXACT [] synonym: "pseudo-Hurler polydystrophy" EXACT [] xref: MIM:252600 xref: ORDO:577 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080488 ! mucolipidosis created_by: lschriml creation_date: 2015-10-08T17:58:48Z [Term] id: DOID:0080072 name: intestinal pseudo-obstruction alt_id: DOID:3878 def: "A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract." [url:https\://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction, url:https\://pubmed.ncbi.nlm.nih.gov/31848803/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Chronic intestinal pseudo-obstruction" EXACT [] synonym: "neuronal intestinal dysplasia" EXACT [] xref: GARD:12744 xref: GARD:6789 xref: MESH:D007418 xref: NCI:C34733 xref: ORDO:2978 xref: SNOMEDCT_US_2023_03_01:235825006 xref: UMLS_CUI:C0021847 is_a: DOID:5353 ! colonic disease created_by: lschriml creation_date: 2015-10-19T14:28:30Z [Term] id: DOID:0080073 name: spina bifida occulta def: "A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed." [url:https\://en.wikipedia.org/wiki/Spina_bifida#Spina_bifida_occulta] xref: MESH:D016136 is_a: DOID:0080016 ! spina bifida created_by: lschriml creation_date: 2015-10-19T14:35:47Z [Term] id: DOID:0080074 name: neural tube defect def: "A physical disorder characterized by incomplete closure of the neural tube." [url:https\://en.wikipedia.org/wiki/Neural_tube_defect, url:https\://www.ncbi.nlm.nih.gov/books/NBK555903/] subset: DO_rare_slim xref: GARD:4016 xref: MIM:301410 xref: MIM:601634 is_a: DOID:0080015 ! physical disorder created_by: lschriml creation_date: 2015-10-19T14:41:42Z [Term] id: DOID:0080075 name: Neu-Laxova syndrome 2 def: "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine." [url:https\://www.omim.org/entry/616038] xref: MIM:616038 is_a: DOID:0050721 ! serine deficiency created_by: lschriml creation_date: 2015-10-19T14:47:01Z [Term] id: DOID:0080076 name: Neu-Laxova syndrome 1 def: "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine." [url:https\://www.omim.org/entry/256520] xref: MIM:256520 is_a: DOID:0050721 ! serine deficiency created_by: lschriml creation_date: 2015-10-19T14:47:35Z [Term] id: DOID:0080077 name: hypophosphatemic nephrolithiasis/osteoporosis 1 def: "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12324554] xref: MESH:C567363 xref: MIM:612286 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080655 ! hypophosphatemic nephrolithiasis/osteoporosis created_by: lschriml creation_date: 2015-10-19T14:52:42Z [Term] id: DOID:0080078 name: hypophosphatemic nephrolithiasis/osteoporosis 2 def: "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1." [url:https\://pubmed.ncbi.nlm.nih.gov/31364377/, url:https\://www.ncbi.nlm.nih.gov/pubmed/18784102, url:https\://www.nejm.org/doi/full/10.1056/NEJMoa020028] xref: MESH:C567362 xref: MIM:612287 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080655 ! hypophosphatemic nephrolithiasis/osteoporosis created_by: lschriml creation_date: 2015-10-19T14:52:42Z [Term] id: DOID:0080079 name: nonsyndromic congenital nail disorder 1 alt_id: DOID:0080088 def: "A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance." [url:https\://pubmed.ncbi.nlm.nih.gov/26149975/] subset: DO_rare_slim synonym: "nonsyndromic congenital nail disorder 10" EXACT [] synonym: "twenty-nail dystrophy" EXACT [] xref: MIM:161050 xref: ORDO:280654 xref: ORDO:79153 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder created_by: lschriml creation_date: 2015-11-09T15:13:08Z [Term] id: DOID:0080080 name: nonsyndromic congenital nail disorder 2 def: "A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges." [url:https\://pubmed.ncbi.nlm.nih.gov/26149975/] xref: MIM:149300 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder created_by: lschriml creation_date: 2015-11-09T15:18:20Z [Term] id: DOID:0080081 name: nonsyndromic congenital nail disorder 3 def: "A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails." [url:https\://pubmed.ncbi.nlm.nih.gov/26149975/] xref: MIM:151600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder created_by: lschriml creation_date: 2015-11-09T15:18:20Z [Term] id: DOID:0080082 name: nonsyndromic congenital nail disorder 4 alt_id: DOID:0050643 def: "A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13." [url:https\://ghr.nlm.nih.gov/condition/anonychia-congenita, url:https\://pubmed.ncbi.nlm.nih.gov/26149975/] subset: DO_rare_slim synonym: "anonychia congenita" EXACT [] synonym: "HYPONYCHIA CONGENITA" EXACT [] xref: GARD:12930 xref: MESH:C536377 xref: MIM:206800 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder created_by: lschriml creation_date: 2015-11-09T15:18:20Z [Term] id: DOID:0080083 name: nonsyndromic congenital nail disorder 5 def: "A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment." [url:https\://pubmed.ncbi.nlm.nih.gov/26149975/] xref: MIM:164800 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder created_by: lschriml creation_date: 2015-11-09T15:18:20Z [Term] id: DOID:0080084 name: nonsyndromic congenital nail disorder 6 def: "A nonsyndromic congenital nail disorder that is characterized by partial absences of nails." [url:https\://pubmed.ncbi.nlm.nih.gov/26149975/] xref: MIM:107000 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder created_by: lschriml creation_date: 2015-11-09T15:18:20Z [Term] id: DOID:0080085 name: nonsyndromic congenital nail disorder 7 def: "A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail plate leading to increased vulnerability of the free nail margins." [url:https\://pubmed.ncbi.nlm.nih.gov/26149975/] xref: MIM:605779 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder created_by: lschriml creation_date: 2015-11-09T15:18:20Z [Term] id: DOID:0080086 name: nonsyndromic congenital nail disorder 8 def: "A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only." [url:https\://pubmed.ncbi.nlm.nih.gov/26149975/] synonym: "isolated toenail dystrophy" EXACT [] xref: MIM:607523 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder created_by: lschriml creation_date: 2015-11-09T15:18:20Z [Term] id: DOID:0080087 name: nonsyndromic congenital nail disorder 9 def: "A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails." [url:https\://pubmed.ncbi.nlm.nih.gov/26149975/] xref: MIM:614149 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder created_by: lschriml creation_date: 2015-11-09T15:18:20Z [Term] id: DOID:0080088 name: obsolete nonsyndromic congenital nail disorder 10 comment: merged into type 1. [LS] is_obsolete: true created_by: lschriml creation_date: 2015-11-09T15:18:20Z [Term] id: DOID:0080089 name: tubular aggregate myopathy 1 def: "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/] subset: DO_rare_slim xref: GARD:3884 xref: MIM:160565 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:423 ! myopathy property_value: narrowMatch "ORDO:2593" xsd:string created_by: lschriml creation_date: 2015-11-10T16:53:39Z [Term] id: DOID:0080090 name: reducing body myopathy 1A def: "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26." [url:https\://pubmed.ncbi.nlm.nih.gov/17099882/] subset: DO_rare_slim xref: GARD:12162 xref: MIM:300717 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:423 ! myopathy created_by: lschriml creation_date: 2015-11-10T16:54:50Z [Term] id: DOID:0080091 name: obsolete spheroid body myopathy def: "A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has_material_basis_in heterozygous mutation in the myotilin gene on chromosome 5q31." [url:https\://pubmed.ncbi.nlm.nih.gov/16380616/] comment: Merged by OMIM. Same gene as 'term replaced by' with variable onset and phenotype. is_obsolete: true replaced_by: DOID:0080094 created_by: lschriml creation_date: 2015-11-10T16:57:47Z [Term] id: DOID:0080092 name: myofibrillar myopathy 1 alt_id: DOID:0110286 def: "A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23687351] subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "autosomal recessive limb-girdle muscular dystrophy type 2R" EXACT [] synonym: "desminopathy" EXACT [] xref: ICD10CM:G71.0 xref: MIM:601419 xref: ORDO:363543 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080307 ! myofibrillar myopathy created_by: lschriml creation_date: 2015-11-10T16:59:22Z [Term] id: DOID:0080093 name: myofibrillar myopathy 2 def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23." [url:https\://pubmed.ncbi.nlm.nih.gov/14681890/] subset: DO_rare_slim synonym: "alpha-b crystallinopathy" EXACT [] xref: MIM:608810 xref: ORDO:399058 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy created_by: lschriml creation_date: 2015-11-10T16:59:22Z [Term] id: DOID:0080094 name: myofibrillar myopathy 3 alt_id: DOID:0080091 alt_id: DOID:0110300 def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31." [url:https\://pubmed.ncbi.nlm.nih.gov/10958653/, url:https\://pubmed.ncbi.nlm.nih.gov/16380616/, url:https\://pubmed.ncbi.nlm.nih.gov/30055862/] subset: DO_rare_slim synonym: "autosomal dominant limb-girdle muscular dystrophy type 1A" EXACT [] synonym: "LGMD 1A" EXACT OMO:0003012 [] synonym: "LGMD1A" EXACT OMO:0003012 [] synonym: "myotilinopathy" EXACT [] synonym: "spheroid body myopathy" EXACT [] xref: GARD:10229 xref: GARD:8711 xref: ICD10CM:G71.0 xref: MESH:C000598645 xref: MESH:C535906 xref: MIM:609200 xref: ORDO:266 xref: ORDO:268129 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy created_by: lschriml creation_date: 2015-11-10T16:59:22Z [Term] id: DOID:0080095 name: myofibrillar myopathy 4 def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10." [url:https\://pubmed.ncbi.nlm.nih.gov/17337483/] synonym: "zaspopathy" EXACT [] xref: MIM:609452 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy created_by: lschriml creation_date: 2015-11-10T16:59:22Z [Term] id: DOID:0080096 name: myofibrillar myopathy 5 def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32." [url:https\://pubmed.ncbi.nlm.nih.gov/15929027/] synonym: "filaminopathy" EXACT [] xref: MIM:609524 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy created_by: lschriml creation_date: 2015-11-10T16:59:22Z [Term] id: DOID:0080097 name: myofibrillar myopathy 6 def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26." [url:https\://pubmed.ncbi.nlm.nih.gov/22734908/] synonym: "BAG3-related myofibrillar myopathy" RELATED [] xref: MIM:612954 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy created_by: lschriml creation_date: 2015-11-10T16:59:22Z [Term] id: DOID:0080098 name: myofibrillar myopathy 7 def: "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22." [url:https\://pubmed.ncbi.nlm.nih.gov/27484770/] xref: MIM:617114 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080307 ! myofibrillar myopathy created_by: lschriml creation_date: 2015-11-10T16:59:22Z [Term] id: DOID:0080099 name: myopathy, lactic acidosis, and sideroblastic anemia def: "A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253070/] subset: DO_rare_slim xref: ORDO:2598 is_a: DOID:699 ! mitochondrial myopathy created_by: lschriml creation_date: 2015-11-10T17:17:42Z [Term] id: DOID:0080100 name: obsolete Batten Turner congenital myopathy def: "A myopathy that is characterized by the lack of muscle tone or floppiness at birth." [url:https\://rarediseases.org/rare-diseases/myopathy-congenital-batten-turner-type/] is_obsolete: true replaced_by: DOID:2106 created_by: lschriml creation_date: 2015-11-10T17:25:05Z [Term] id: DOID:0080101 name: Compton-North congenital myopathy def: "A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels." [url:https\://pubmed.ncbi.nlm.nih.gov/19026398/] subset: DO_rare_slim synonym: "congenital myopathy 12" EXACT [] xref: MIM:612540 xref: ORDO:210163 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:0081337 ! congenital myopathy created_by: lschriml creation_date: 2015-11-10T17:27:15Z [Term] id: DOID:0080102 name: congenital myopathy 4A def: "A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs." [url:https\://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion] synonym: "CFTD" EXACT OMO:0003012 [] synonym: "congenital fiber-type disproportion" EXACT [] xref: MIM:255310 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:0081337 ! congenital myopathy created_by: lschriml creation_date: 2015-11-10T17:27:15Z [Term] id: DOID:0080103 name: cylindrical spirals myopathy def: "A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions." [url:https\://en.wikipedia.org/wiki/Congenital_myopathy#Cylindrical_spirals_myopathy] subset: DO_rare_slim xref: GARD:11906 xref: MIM:160990 is_a: DOID:0081337 ! congenital myopathy created_by: lschriml creation_date: 2015-11-10T17:27:15Z [Term] id: DOID:0080105 name: microcephaly and chorioretinopathy 1 def: "A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25344692] xref: MIM:251270 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080106 name: microcephaly and chorioretinopathy 2 def: "A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25344692] xref: MIM:616171 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080107 name: microcephaly and chorioretinopathy 3 def: "A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25344692] xref: MIM:616335 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080108 name: myoglobinuria def: "A myopathy that is characterized by an increased urinary excretion of myoglobin." [url:https\://books.google.com/books?id=BxWOErb3sEgC&pg=PA477&dq=myoglobinuria&hl=en&sa=X&ved=0CCoQ6AEwAmoVChMIiYqijYmJyQIVCGk-Ch3ROwQk#v=onepage&q=myoglobinuria&f=false, url:https\://www.ncbi.nlm.nih.gov/pubmed/9098484] xref: MESH:D009212 xref: MIM:160010 xref: MIM:268200 xref: MIM:550500 is_a: DOID:423 ! myopathy [Term] id: DOID:0080109 name: infantile myofibromatosis def: "A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs." [url:https\://pubmed.ncbi.nlm.nih.gov/27259011/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23731542] subset: DO_rare_slim synonym: "lipofibromatosis" EXACT [] xref: GARD:2998 xref: MIM:228550 xref: MIM:615293 xref: ORDO:2591 is_a: DOID:0060123 ! connective tissue benign neoplasm [Term] id: DOID:0080110 name: contractures, pterygia, and spondylocarpotarsal fusion syndrome def: "A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits." [url:http\://rarediseases.org/rare-diseases/pterygium-syndrome-multiple/, url:https\://en.wikipedia.org/wiki/Multiple_pterygium_syndrome, url:https\://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/25957469] subset: DO_rare_slim synonym: "multiple pterygium syndrome" EXACT [] xref: MESH:C537377 xref: MIM:253290 xref: MIM:265000 xref: MIM:312150 xref: MIM:PS178110 is_a: DOID:0050177 ! monogenic disease is_a: DOID:225 ! syndrome is_a: DOID:37 ! skin disease [Term] id: DOID:0080111 name: mitochondrial complex III deficiency nuclear type 1 def: "A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35." [url:http\://omim.org/entry/124000?search=124000&highlight=124000] xref: MIM:124000 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080112 name: mitochondrial complex III deficiency nuclear type 3 def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22." [url:http\://omim.org/entry/615158?search=615158&highlight=615158] xref: MIM:615158 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080113 name: mitochondrial complex III deficiency nuclear type 4 def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31." [url:http\://omim.org/entry/615159?search=615159&highlight=615159] xref: MIM:615159 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080114 name: mitochondrial complex III deficiency nuclear type 5 def: "A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12." [url:http\://omim.org/entry/615160?search=615160&highlight=615160] xref: MIM:615160 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080115 name: mitochondrial complex III deficiency nuclear type 6 def: "A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24." [url:http\://omim.org/entry/615453?search=615453&highlight=615453] xref: MIM:615453 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080116 name: mitochondrial complex III deficiency nuclear type 7 def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21." [url:http\://omim.org/entry/615824?search=615824&highlight=615824] xref: MIM:615824 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080117 name: mitochondrial complex III deficiency nuclear type 8 def: "A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23." [url:http\://omim.org/entry/615838?search=615838&highlight=615838] xref: MIM:615838 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080118 name: mitochondrial complex III deficiency nuclear type 9 def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12." [url:http\://omim.org/entry/616111?search=616111&highlight=616111] xref: MIM:616111 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080119 name: mitochondrial DNA depletion syndrome 1 def: "A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13." [url:https\://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome, url:https\://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease, url:https\://www.ncbi.nlm.nih.gov/pubmed/19056268, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301358, url:https\://www.omim.org/entry/603041] subset: DO_rare_slim subset: NCIthesaurus synonym: "mitochondrial DNA depletion syndrome 1 (MNGIE type)" EXACT [] synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related" EXACT [] xref: GARD:9920 xref: MESH:C536350 xref: MIM:603041 xref: NCI:C11967 xref: ORDO:298 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080120 name: mitochondrial DNA depletion syndrome 2 def: "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21." [url:https\://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form, url:https\://www.ncbi.nlm.nih.gov/pubmed/2881246, url:https\://www.ncbi.nlm.nih.gov/pubmed/29735374] subset: DO_rare_slim synonym: "TK2-related mitochondrial DNA depletion syndrome, myopathic form" EXACT [] xref: MESH:C563698 xref: MIM:609560 xref: ORDO:254875 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080121 name: mitochondrial DNA depletion syndrome 3 def: "A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13." [url:https\://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/24423689, url:https\://www.ncbi.nlm.nih.gov/pubmed/30589726] subset: DO_rare_slim synonym: "deoxyguanosine kinase deficiency" EXACT [] xref: GARD:13644 xref: MESH:C580039 xref: MIM:251880 xref: ORDO:279934 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080122 name: Alpers-Huttenlocher syndrome alt_id: DOID:1442 def: "A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26." [url:https\://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, url:https\://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/30103161, url:https\://www.ncbi.nlm.nih.gov/pubmed/30451971] subset: DO_rare_slim subset: NCIthesaurus synonym: "Alper's syndrome" EXACT [] synonym: "Alpers disease" EXACT [] synonym: "Alpers progressive infantile poliodystrophy" EXACT [] synonym: "Alpers syndrome" EXACT [] synonym: "Alpers' disease or gray-matter degeneration" EXACT [] synonym: "Diffuse Cerebral Sclerosis of Schilder" EXACT [] synonym: "mitochondrial DNA depletion syndrome 4a" EXACT [] synonym: "progressive sclerosing poliodystrophy" EXACT [] xref: GARD:5783 xref: ICD10CM:G31.81 xref: MESH:D002549 xref: MIM:203700 xref: NCI:C35257 xref: ORDO:726 xref: SNOMEDCT_US_2023_03_01:20415001 xref: UMLS_CUI:C0205710 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome property_value: exactMatch "MESH:D002549" xsd:string [Term] id: DOID:0080123 name: mitochondrial DNA depletion syndrome 4b def: "A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26." [url:https\://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/30385167, url:https\://www.ncbi.nlm.nih.gov/pubmed/30395865] subset: DO_rare_slim synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome" EXACT [] xref: MIM:613662 xref: ORDO:298 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080124 name: mitochondrial DNA depletion syndrome 5 def: "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14." [url:https\://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, url:https\://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/24986829, url:https\://www.ncbi.nlm.nih.gov/pubmed/26952923] synonym: "succinate-CoA ligase deficiency" EXACT [] xref: MESH:C567624 xref: MESH:C580473 xref: MIM:612073 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080125 name: mitochondrial DNA depletion syndrome 6 def: "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23." [url:https\://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, url:https\://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/29282788, url:https\://www.ncbi.nlm.nih.gov/pubmed/30298599] subset: DO_rare_slim synonym: "MPV17-related hepatocerebral mitochondrial DNA depletion syndrome" EXACT [] synonym: "Navajo neurohepatopathy" EXACT [] xref: GARD:3972 xref: MESH:C538344 xref: MIM:256810 xref: ORDO:255229 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080126 name: mitochondrial DNA depletion syndrome 7 alt_id: DOID:0050556 def: "A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24." [url:https\://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia, url:https\://www.ncbi.nlm.nih.gov/pubmed/18775955, url:https\://www.ncbi.nlm.nih.gov/pubmed/30391088] subset: DO_rare_slim synonym: "infantile onset spinocerebellar ataxia" EXACT [] synonym: "OHAHA SYNDROME" EXACT [] xref: GARD:4062 xref: MESH:C535523 xref: MIM:271245 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080127 name: mitochondrial DNA depletion syndrome 8a def: "A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22." [url:https\://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, url:https\://ghr.nlm.nih.gov/condition/rrm2b-related-mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-renal-tubulopathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/24741716, url:https\://www.ncbi.nlm.nih.gov/pubmed/30439532] subset: DO_rare_slim synonym: "RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy" EXACT [] xref: GARD:13200 xref: MESH:C536350 xref: MIM:612075 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080128 name: mitochondrial DNA depletion syndrome 9 def: "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11." [url:https\://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, url:https\://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/28215579, url:https\://www.ncbi.nlm.nih.gov/pubmed/29217198] subset: DO_rare_slim synonym: "fatal infantile lactic acidosis" EXACT [] xref: MESH:C580473 xref: MIM:245400 xref: ORDO:17 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080129 name: mitochondrial DNA depletion syndrome 11 def: "A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23313956, url:https\://www.ncbi.nlm.nih.gov/pubmed/28215579] subset: DO_rare_slim synonym: "progressive external ophthalmoplegia-myopathy-emaciation syndrome" EXACT [] xref: MIM:615084 xref: ORDO:352447 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080130 name: mitochondrial DNA depletion syndrome 12a def: "A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27693233] subset: NCIthesaurus xref: MIM:617184 xref: NCI:C129977 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080131 name: mitochondrial DNA depletion syndrome 13 def: "A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16." [url:https\://ghr.nlm.nih.gov/condition/fbxl4-related-encephalomyopathic-mitochondrial-dna-depletion-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/26404457, url:https\://www.ncbi.nlm.nih.gov/pubmed/28215579, url:https\://www.ncbi.nlm.nih.gov/pubmed/28940506] subset: DO_rare_slim synonym: "FBXL4 deficiency" EXACT [] synonym: "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome" EXACT [] synonym: "mitochondrial DNA depletion syndrome 13, encephalomyopathic type" EXACT [] xref: GARD:13298 xref: MIM:615471 xref: ORDO:369897 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080132 name: Sengers syndrome def: "A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34." [url:https\://en.wikipedia.org/wiki/Sengers_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/28712724, url:https\://www.ncbi.nlm.nih.gov/pubmed/29682452] subset: DO_rare_slim synonym: "mitochondrial DNA depletion syndrome 10" EXACT [] synonym: "mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)" EXACT [] xref: GARD:1142 xref: MESH:C538280 xref: MIM:212350 xref: ORDO:1369 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080133 name: multiple mitochondrial dysfunctions syndrome 1 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13." [url:https\://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/22077971, url:https\://www.ncbi.nlm.nih.gov/pubmed/28470589, url:https\://www.ncbi.nlm.nih.gov/pubmed/29441221] subset: DO_rare_slim synonym: "NFU1 deficiency" EXACT [] xref: GARD:12632 xref: MIM:605711 xref: ORDO:401869 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome [Term] id: DOID:0080134 name: multiple mitochondrial dysfunctions syndrome 2 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13." [url:https\://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/22562699, url:https\://www.ncbi.nlm.nih.gov/pubmed/24334290, url:https\://www.ncbi.nlm.nih.gov/pubmed/29654549] subset: DO_rare_slim synonym: "BOLA3 deficiency" EXACT [] synonym: "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" EXACT [] xref: GARD:12632 xref: MIM:614299 xref: ORDO:401874 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome [Term] id: DOID:0080135 name: multiple mitochondrial dysfunctions syndrome 3 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27785568, url:https\://www.ncbi.nlm.nih.gov/pubmed/28671726, url:https\://www.ncbi.nlm.nih.gov/pubmed/28913435] subset: DO_rare_slim synonym: "IBA57 deficiency" EXACT [] xref: MIM:615330 xref: ORDO:363424 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome [Term] id: DOID:0080136 name: multiple mitochondrial dysfunctions syndrome 4 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25539947, url:https\://www.ncbi.nlm.nih.gov/pubmed/29122497, url:https\://www.ncbi.nlm.nih.gov/pubmed/29297947, url:https\://www.ncbi.nlm.nih.gov/pubmed/29359243] subset: DO_rare_slim xref: MIM:616370 xref: ORDO:457406 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome [Term] id: DOID:0080137 name: multiple endocrine neoplasia type 4 def: "A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked." [url:https\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia] synonym: "Multiple Endocrine Neoplasia, Type IV" EXACT [] xref: MESH:C567059 xref: MIM:610755 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3125 ! multiple endocrine neoplasia [Term] id: DOID:0080138 name: multiple congenital anomalies-hypotonia-seizures syndrome 1 def: "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21493957] xref: MIM:614080 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome [Term] id: DOID:0080139 name: multiple congenital anomalies-hypotonia-seizures syndrome 2 alt_id: DOID:0080466 def: "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10441586, url:https\://www.ncbi.nlm.nih.gov/pubmed/22305531] subset: DO_rare_slim synonym: "developmental and epileptic encephalopathy 20" EXACT [] synonym: "early infantile epileptic encephalopathy 20" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 4" EXACT [] xref: GARD:12777 xref: MIM:300868 xref: ORDO:300496 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome [Term] id: DOID:0080140 name: multiple congenital anomalies-hypotonia-seizures syndrome 3 def: "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13." [url:https\://pubmed.ncbi.nlm.nih.gov/36177944/, url:https\://www.ncbi.nlm.nih.gov/pubmed/21493957] synonym: "light fixation seizure syndrome" EXACT [] synonym: "M syndrome" EXACT [] xref: MIM:615398 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome [Term] id: DOID:0080141 name: mosaic variegated aneuploidy syndrome 1 def: "A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15." [url:https\://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome] xref: MIM:257300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome [Term] id: DOID:0080142 name: mosaic variegated aneuploidy syndrome 2 def: "A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21." [url:https\://pubmed.ncbi.nlm.nih.gov/21552266/] xref: MIM:614114 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome [Term] id: DOID:0080143 name: congenital fibrosis of the extraocular muscles def: "An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position." [url:https\://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles#synonyms, url:https\://www.ncbi.nlm.nih.gov/books/NBK1348/] subset: DO_rare_slim xref: GARD:12590 xref: MESH:C580012 xref: MIM:PS135700 xref: ORDO:45358 is_a: DOID:0080015 ! physical disorder is_a: DOID:1279 ! ocular motility disease [Term] id: DOID:0080144 name: childhood acute lymphocytic leukemia def: "An acute lymphocytic leukemia occurring during childhood." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.04d&ns=NCI_Thesaurus&code=C3168&key=736438179&b=1&n=null] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "Childhood Acute Lymphoblastic Leukemia" EXACT [] xref: NCI:C3168 is_a: DOID:9952 ! acute lymphoblastic leukemia [Term] id: DOID:0080145 name: childhood T-cell acute lymphoblastic leukemia alt_id: DOID:7933 def: "A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C7953] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood precursor T-lymphoblastic lymphoma/leukemia" EXACT [] synonym: "T-cell childhood acute lymphocytic leukemia" EXACT [] xref: NCI:C5640 xref: UMLS_CUI:C1332997 is_a: DOID:0080144 ! childhood acute lymphocytic leukemia is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia [Term] id: DOID:0080146 name: childhood B-cell acute lymphoblastic leukemia def: "A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C9140] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: NCI:C9140 is_a: DOID:0060058 ! lymphoma is_a: DOID:0080144 ! childhood acute lymphocytic leukemia [Term] id: DOID:0080147 name: lymphoblastic lymphoma def: "A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7055] subset: DO_rare_slim xref: GARD:3329 is_a: DOID:0060058 ! lymphoma [Term] id: DOID:0080148 name: T-cell childhood lymphoblastic lymphoma def: "A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood." [url:https\://www.dana-farber.org/cancer-care/types/childhood-lymphoblastic-lymphoma] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "Childhood T lymphoblastic lymphoma" EXACT [] xref: NCI:C7210 is_a: DOID:0080147 ! lymphoblastic lymphoma is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma [Term] id: DOID:0080149 name: adult acute monocytic leukemia def: "An acute monocytic leukemia occurring in adults." [url:https\://en.wikipedia.org/wiki/Acute_monocytic_leukemia] subset: NCIthesaurus xref: NCI:C8263 is_a: DOID:8864 ! acute monocytic leukemia [Term] id: DOID:0080150 name: adrenocorticotropic hormone deficiency def: "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland." [url:https\://en.wikipedia.org/wiki/Adrenocorticotropic_hormone_deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/27041067] xref: MESH:C535668 xref: MIM:201400 is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:0080153 name: medium chain acyl-CoA dehydrogenase deficiency def: "A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting." [url:http\://rarediseases.org/rare-diseases/medium-chain-acyl-coa-dehydrogenase-deficiency/, url:https\://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency] subset: DO_rare_slim xref: GARD:540 xref: MESH:C536038 xref: MIM:201450 xref: ORDO:42 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0080154 name: short chain acyl-CoA dehydrogenase deficiency def: "A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids." [url:http\://rarediseases.org/rare-diseases/short-chain-acyl-coa-dehydrogenase-deficiency-scad/] subset: DO_rare_slim xref: GARD:4822 xref: MIM:201470 xref: ORDO:26792 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0080155 name: very long chain acyl-CoA dehydrogenase deficiency def: "A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids." [url:http\://rarediseases.org/rare-diseases/very-long-chain-acyl-coa-dehydrogenase-deficiency-lcad/, url:https\://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency] subset: DO_rare_slim synonym: "VLCAD deficiency" EXACT [] xref: GARD:5508 xref: MIM:201475 xref: ORDO:26793 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0080156 name: X-linked adrenal hypoplasia congenita def: "An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene." [url:http\://www.ncbi.nlm.nih.gov/books/NBK1431/, url:https\://en.wikipedia.org/wiki/X-linked_adrenal_hypoplasia_congenita, url:https\://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita#genes, url:https\://www.ncbi.nlm.nih.gov/pubmed/27376611] subset: DO_rare_slim synonym: "congenital adrenal hypoplasia" EXACT [] xref: GARD:555 xref: MIM:300200 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10493 ! adrenal cortical hypofunction [Term] id: DOID:0080158 name: herpes simplex virus keratitis def: "A keratitis that has_material_basis_in herpes simplex type infection." [url:http\://www.aao.org/eye-health/diseases/herpes-keratitis] synonym: "dendritic keratitis" EXACT [] xref: MESH:D007635 xref: MESH:D016849 is_a: DOID:4677 ! keratitis [Term] id: DOID:0080159 name: Cryptococcal meningitis def: "A fungal meningitis that has_material_basis_in Crypococcus fungal infection." [url:https\://medlineplus.gov/ency/article/000642.htm] subset: DO_infectious_disease_slim xref: MESH:D016919 is_a: DOID:11608 ! fungal meningitis [Term] id: DOID:0080160 name: Cytomegalovirus retinitis def: "A retinitis that has_material_basis_in Cytomegalovirus." [url:https\://medlineplus.gov/ency/article/000665.htm] subset: DO_rare_slim synonym: "CMV retinitis" EXACT [] xref: GARD:9531 xref: MESH:D017726 is_a: DOID:3612 ! retinitis [Term] id: DOID:0080161 name: cutaneous candidiasis def: "A candidiasis that is characterized by Candida infection located_in the skin." [url:https\://medlineplus.gov/ency/article/000880.htm] subset: DO_infectious_disease_slim xref: MESH:D002179 is_a: DOID:1508 ! candidiasis is_a: DOID:37 ! skin disease [Term] id: DOID:0080162 name: lupus nephritis def: "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus." [url:https\://en.wikipedia.org/wiki/Lupus_nephritis#cite_note-1, url:https\://medlineplus.gov/ency/article/000481.htm] subset: DO_rare_slim xref: GARD:10747 xref: MESH:D008181 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:0080163 name: otulipenia def: "An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15." [url:http\://www.omim.org/entry/617099?search=617099&highlight=617099, url:https\://www.ncbi.nlm.nih.gov/pubmed/27523608, url:https\://www.ncbi.nlm.nih.gov/pubmed/27559085, url:https\://www.nih.gov/news-events/news-releases/nih-researchers-discover-otulipenia-new-inflammatory-disease] subset: DO_rare_slim synonym: "autoinflammation, panniculitis and dermatosis syndrome" EXACT [] synonym: "otulin-related autoinflammatory syndrome" EXACT [] xref: GARD:13198 xref: MIM:617099 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2914 ! immune system disease [Term] id: DOID:0080164 name: myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 def: "A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19357394, url:https\://www.ncbi.nlm.nih.gov/pubmed/23489324] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms" EXACT [] synonym: "Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2" EXACT [] xref: NCI:C84270 xref: UMLS_CUI:C2827356 is_a: DOID:0070004 ! myeloid neoplasm [Term] id: DOID:0080165 name: myeloid and lymphoid neoplasms associated with PDGFRA rearrangement def: "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84275&key=n472778324&b=1&n=null] subset: NCIthesaurus synonym: "Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement" EXACT [] xref: NCI:C84275 is_a: DOID:0080164 ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 [Term] id: DOID:0080166 name: myeloid and lymphoid neoplasms associated with PDGFRB rearrangement def: "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84276&key=n472778324&b=1&n=null] subset: NCIthesaurus synonym: "Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement" EXACT [] xref: NCI:C84276 is_a: DOID:0080164 ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 [Term] id: DOID:0080167 name: myeloid and lymphoid neoplasms associated with FGFR1 abnormalities def: "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84277&key=n472778324&b=1&n=null] subset: NCIthesaurus xref: NCI:C84277 is_a: DOID:0080164 ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 [Term] id: DOID:0080169 name: tricuspid atresia def: "A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth." [url:https\://medlineplus.gov/ency/article/001110.htm] subset: DO_rare_slim xref: GARD:5274 xref: MESH:D018785 xref: MIM:605067 is_a: DOID:0050826 ! tricuspid valve disease [Term] id: DOID:0080170 name: normophosphatemic familial tumoral calcinosis def: "A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors." [url:https\://en.wikipedia.org/wiki/Normophosphatemic_familial_tumoral_calcinosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/21160498] subset: DO_rare_slim xref: GARD:10878 xref: MIM:610455 is_a: DOID:182 ! calcinosis [Term] id: DOID:0080171 name: esophageal atresia/tracheoesophageal fistula def: "A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing." [url:https\://ghr.nlm.nih.gov/condition/esophageal-atresia-tracheoesophageal-fistula] subset: DO_rare_slim synonym: "esophageal atresia and/or tracheoesophageal fistula" EXACT [] synonym: "tracheoesophageal fistula with or without esohageal atresia" EXACT [] xref: GARD:7792 xref: MIM:189960 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:0080172 name: poor metabolism of thiopurines def: "An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines." [url:https\://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency#statistics] synonym: "thiopurine S-methyltransferase deficiency" EXACT [] synonym: "TPMT deficiency" EXACT [] xref: MESH:C536512 xref: MIM:PS610460 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0080173 name: bladder exstrophy-epispadias-cloacal exstrophy complex def: "A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract." [url:https\://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/, url:https\://www.ncbi.nlm.nih.gov/pubmed/22055685] subset: DO_rare_slim synonym: "exstrophy-epispadias complex" EXACT [] xref: MIM:258040 xref: ORDO:322 is_a: DOID:0080015 ! physical disorder [Term] id: DOID:0080174 name: bladder exstrophy def: "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening." [url:https\://en.wikipedia.org/wiki/Bladder_exstrophy, url:https\://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/, url:https\://www.ncbi.nlm.nih.gov/pubmed/21929991, url:https\://www.ncbi.nlm.nih.gov/pubmed/22055685] subset: DO_rare_slim xref: ICD10CM:Q64.10 xref: ICD9CM:753.5 xref: MESH:D001746 xref: MIM:600057 xref: ORDO:93930 is_a: DOID:0080173 ! bladder exstrophy-epispadias-cloacal exstrophy complex is_a: DOID:365 ! bladder disease [Term] id: DOID:0080175 name: cloacal exstrophy def: "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel." [url:https\://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/] subset: DO_rare_slim xref: MIM:258040 xref: ORDO:93929 is_a: DOID:0080173 ! bladder exstrophy-epispadias-cloacal exstrophy complex [Term] id: DOID:0080176 name: meningococcal meningitis def: "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection." [url:http\://www.who.int/mediacentre/factsheets/fs141/en/, url:https\://en.wikipedia.org/wiki/Meningococcal_disease, url:https\://www.cdc.gov/meningococcal/about/symptoms.html] subset: DO_infectious_disease_slim xref: ICD10CM:A39.0 xref: ICD9CM:036.0 xref: MESH:D008585 is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:0080177 name: hepatic veno-occlusive disease def: "A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver." [url:https\://en.wikipedia.org/wiki/Hepatic_veno-occlusive_disease] subset: DO_rare_slim synonym: "veno-occlusive disease" EXACT [] xref: GARD:13004 xref: ICD10CM:K76.5 xref: MESH:D006504 is_a: DOID:272 ! hepatic vascular disease property_value: exactMatch "MESH:D006504" xsd:string [Term] id: DOID:0080178 name: mucositis def: "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract." [url:https\://en.wikipedia.org/wiki/Mucositis] xref: MESH:D052016 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:0080179 name: haemophilus meningitis def: "A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection." [url:https\://en.wikipedia.org/wiki/Haemophilus_meningitis] subset: DO_infectious_disease_slim xref: ICD10CM:G00.0 xref: ICD9CM:320.0 xref: MESH:D008583 is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:0080180 name: Zika virus congenital syndrome def: "A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus infection in utero." [url:http\://www.who.int/bulletin/volumes/94/6/16-176990/en/, url:https\://wwwn.cdc.gov/nndss/conditions/zika/case-definition/2016/06/] synonym: "ZIKV congenital infection" EXACT [] is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0080181 name: PHARC syndrome def: "A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24697911] subset: DO_rare_slim synonym: "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" EXACT [] xref: MIM:612674 xref: ORDO:171848 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080182 name: mixed fibrolamellar hepatocellular carcinoma def: "A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components." [url:https\://wjso.biomedcentral.com/articles/10.1186/s12957-016-0903-8, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880064/] subset: DO_cancer_slim subset: DO_rare_slim is_a: DOID:5015 ! fibrolamellar carcinoma [Term] id: DOID:0080183 name: medullary colon carcinoma def: "A colon carcinoma that is characterized by a solid growth pattern." [url:http\://www.pathologyoutlines.com/topic/colontumormedullary.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/10414504, url:https\://www.ncbi.nlm.nih.gov/pubmed/20811712] is_a: DOID:1520 ! colon carcinoma [Term] id: DOID:0080184 name: mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma def: "A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin)." [url:https\://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung, url:https\://www.ncbi.nlm.nih.gov/pubmed/20073606] synonym: "indeterminate bronchioloalveolar carcinoma" EXACT [] synonym: "mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma" EXACT [] is_a: DOID:4926 ! bronchiolo-alveolar adenocarcinoma [Term] id: DOID:0080185 name: mucinous bronchioloalveolar adenocarcinoma def: "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16463270] is_a: DOID:4926 ! bronchiolo-alveolar adenocarcinoma [Term] id: DOID:0080186 name: nonmucinous bronchioloalveolar adenocarcinoma def: "A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17616987] is_a: DOID:4926 ! bronchiolo-alveolar adenocarcinoma [Term] id: DOID:0080187 name: chronic neutrophilic leukemia def: "A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene." [url:https\://en.wikipedia.org/wiki/Chronic_neutrophilic_leukemia] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9963/3 xref: NCI:C3179 is_a: DOID:1036 ! chronic leukemia [Term] id: DOID:0080188 name: chronic myelomonocytic leukemia def: "A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." [url:https\://en.wikipedia.org/wiki/Chronic_myelomonocytic_leukemia, url:https\://www.ncbi.nlm.nih.gov/pubmed/30367269, url:https\://www.ncbi.nlm.nih.gov/pubmed/31093889] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:8225 xref: ICDO:9945/3 xref: NCI:C3178 is_a: DOID:1036 ! chronic leukemia [Term] id: DOID:0080189 name: malignant hemangioma def: "A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen." [url:http\://www.rare-cancer.org/info/hemangioendothelioma.php, url:https\://en.wikipedia.org/wiki/Hemangioma] is_a: DOID:1115 ! sarcoma is_a: DOID:175 ! vascular cancer [Term] id: DOID:0080190 name: malignant epithelioid hemangioendothelioma def: "A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C3800] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C3800 is_a: DOID:0080189 ! malignant hemangioma [Term] id: DOID:0080191 name: PTEN hamartoma tumor syndrome def: "A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene." [url:https\://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1488/, url:https\://www.ncbi.nlm.nih.gov/pubmed/22628360] subset: DO_cancer_slim subset: DO_rare_slim xref: GARD:12800 is_a: DOID:225 ! syndrome [Term] id: DOID:0080192 name: relapsed/refractory diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22160081] subset: DO_cancer_slim is_a: DOID:0050745 ! diffuse large B-cell lymphoma [Term] id: DOID:0080193 name: superior semicircular canal dehiscence def: "An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10651428/, url:https\://www.ncbi.nlm.nih.gov/pubmed/28503164, url:https\://www.ncbi.nlm.nih.gov/pubmed/28790965] subset: DO_rare_slim synonym: "canal dehiscence syndrome" EXACT [] synonym: "superior canal dehiscence" EXACT [] synonym: "superior canal syndrome" EXACT [] synonym: "superior semicircular canal dehiscence syndrome" EXACT [] synonym: "third mobile window syndrome" EXACT [] xref: ORDO:420402 is_a: DOID:2952 ! inner ear disease [Term] id: DOID:0080194 name: Carey-Fineman-Ziter syndrome def: "A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28681861, url:https\://www.omim.org/entry/254940?search=254940&highlight=254940] xref: MIM:254940 is_a: DOID:225 ! syndrome [Term] id: DOID:0080195 name: Marinesco-Sjogren syndrome def: "A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development." [url:https\://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome#synonyms, url:https\://www.omim.org/entry/248800?search=248800&highlight=248800] subset: DO_rare_slim synonym: "Garland-Moorhouse syndrome" EXACT [] synonym: "hereditary oligophrenic cerebello-lental degeneration" EXACT [] synonym: "Marinesco-Garland syndrome" EXACT [] synonym: "Oligophrenic cerebellolenticular degeneration" EXACT [] xref: GARD:8341 xref: MIM:248800 xref: ORDO:559 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080196 name: mandibulofacial dysostosis, Guion-Almeida type def: "A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia." [url:https\://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly, url:https\://www.ncbi.nlm.nih.gov/books/NBK214367/] subset: DO_rare_slim synonym: "mandibulofacial dysostosis with microcephaly" EXACT [] synonym: "mandibulofacial dysostosis-microcephaly syndrome" EXACT [] synonym: "MFDM syndrome" EXACT [] xref: GARD:10056 xref: MIM:610536 xref: ORDO:79113 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080197 name: congenital muscular dystrophy with cataracts and intellectual disability def: "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28190459] xref: MIM:617404 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080198 name: infantile histiocytoid cardiomyopathy def: "An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10960495] subset: DO_rare_slim xref: GARD:9511 xref: MIM:500000 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0060036 ! intrinsic cardiomyopathy [Term] id: DOID:0080199 name: colorectal carcinoma def: "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C4978] subset: NCIthesaurus xref: EFO:1001951 xref: MESH:D015179 xref: NCI:C2955 xref: UMLS_CUI:C0009402 is_a: DOID:305 ! carcinoma is_a: DOID:9256 ! colorectal cancer [Term] id: DOID:0080200 name: bilateral renal aplasia def: "A renal agenesis that is characterized by the absence of both kidneys at birth." [url:https\://rarediseases.org/rare-diseases/renal-agenesis-bilateral/] subset: DO_rare_slim xref: ORDO:1848 is_a: DOID:14766 ! renal agenesis disjoint_from: DOID:12594 ! Potter's syndrome [Term] id: DOID:0080201 name: Peters plus syndrome alt_id: DOID:0070312 def: "A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability." [url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=709, url:https\://en.wikipedia.org/wiki/Peters-plus_syndrome, url:https\://ghr.nlm.nih.gov/condition/peters-plus-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1464/, url:https\://www.ncbi.nlm.nih.gov/pubmed/25544610] subset: DO_rare_slim synonym: "Krause-Kivlin syndrome" EXACT [] synonym: "Peters anomaly-short limb dwarfism syndrome" EXACT [] synonym: "Peters-plus syndrome" EXACT [] xref: GARD:8422 xref: MIM:261540 is_a: DOID:225 ! syndrome [Term] id: DOID:0080202 name: adenoid cystic carcinoma def: "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells." [url:http\://codes.iarc.fr/code/2592, url:https\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma, url:https\://meshb.nlm.nih.gov/record/ui?ui=D003528] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5743 xref: ICDO:8200/3 xref: MESH:D003528 xref: NCI:C2970 is_a: DOID:305 ! carcinoma is_a: DOID:8858 ! tonsil cancer [Term] id: DOID:0080204 name: renal hypoplasia def: "A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons." [url:https\://www.nature.com/articles/pr2010138] subset: DO_rare_slim xref: ORDO:93101 is_a: DOID:557 ! kidney disease [Term] id: DOID:0080205 name: CAKUT def: "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux." [url:https\://www.jci.org/articles/view/95300, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468264/, url:https\://www.ncbi.nlm.nih.gov/pubmed/25313840] subset: DO_rare_slim synonym: "Congenital anomalies of the kidney and urinary tract" EXACT [] synonym: "Renal or urinary tract malformation" EXACT [] xref: MESH:C566906 xref: MIM:PS610805 xref: ORDO:93545 is_a: DOID:18 ! urinary system disease [Term] id: DOID:0080206 name: CAKUT1 def: "A CAKUT that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23862974] synonym: "Congenital anomalies of the kidney and urinary tract 1" EXACT [] xref: MIM:610805 is_a: DOID:0080205 ! CAKUT [Term] id: DOID:0080207 name: CAKUT2 def: "A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26235987] synonym: "Congenital anomalies of the kidney and urinary tract 2" EXACT [] xref: MIM:143400 is_a: DOID:0080205 ! CAKUT [Term] id: DOID:0080208 name: metabolic dysfunction-associated steatotic liver disease def: "A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:\n(1) Body mass index ≥ 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.\n(2) Fasting serum glucose ≥ 5.6 mmol/L, 2-hr post-load glucose levels ≥ 7.8 mmol/L, glycated hemoglobin (HbA1c) ≥ 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose ≥ 11.1 mmol/L (pediatric only).\n(3) Blood pressure ≥ lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age ≥ 13 years); or specific hypertensive drug treatment.\n(4) Plasma triglycerides ≥ 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age ≥ 10 years); or lipid lowering treatment.\n(5) Plasma high-density lipoprotein cholesterol ≤ 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment." [url:https\://pubmed.ncbi.nlm.nih.gov/37364816/] synonym: "MAFLD" EXACT OMO:0003012 [] synonym: "MASLD" EXACT OMO:0003012 [] synonym: "metabolic dysfunction-associated fatty liver disease" EXACT [] synonym: "metabolic dysfunction-related steatotic liver disease" EXACT [] synonym: "metabolic-associated fatty liver disease" EXACT [] synonym: "NAFLD" EXACT OMO:0003012 [] synonym: "non-alcoholic fatty liver disease" EXACT [] synonym: "nonalcoholic fatty liver disease" EXACT [] xref: MESH:D065626 xref: MIM:613282 xref: MIM:613387 is_a: DOID:9452 ! steatotic liver disease [Term] id: DOID:0080209 name: sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay def: "A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23553769, url:https\://www.ncbi.nlm.nih.gov/pubmed/25193871] synonym: "SIFD" EXACT OMO:0003012 [] xref: MIM:616084 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0080210 name: primary mediastinal B-cell lymphoma def: "A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28318892] subset: DO_cancer_slim subset: DO_rare_slim synonym: "Large cell lymphoma of the mediastinum" EXACT [] synonym: "Mediastinal diffuse large-cell lymphoma with sclerosis" EXACT [] synonym: "Primary mediastinal clear cell lymphoma of B-cell type" EXACT [] xref: ICD10CM:C85.2 xref: ORDO:98838 is_a: DOID:0081452 ! large B-cell lymphoma [Term] id: DOID:0080211 name: nodal marginal zone lymphoma def: "A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C8863, url:https\://www.ncbi.nlm.nih.gov/pubmed/26989202] subset: NCIthesaurus xref: NCI:C8863 is_a: DOID:0050748 ! marginal zone lymphoma [Term] id: DOID:0080212 name: polycystic kidney disease 4 def: "A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene." [url:https\://www.omim.org/entry/173900] synonym: "pkd3" EXACT [] synonym: "polycystic kidney and hepatic disease 1" EXACT [] synonym: "polycystic kidney disease 4 with or without hepatic disease" EXACT [] synonym: "polycystic kidney disease, autosomal recessive" EXACT [] synonym: "polycystic kidney disease, infantile, type i" EXACT [] xref: MIM:263200 is_a: DOID:0110861 ! autosomal recessive polycystic kidney disease [Term] id: DOID:0080213 name: punctate palmoplantar keratoderma type II def: "A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits." [url:https\://pubmed.ncbi.nlm.nih.gov/8651714/] subset: DO_rare_slim xref: GARD:4439 xref: MIM:175860 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060361 ! punctate palmoplantar keratoderma [Term] id: DOID:0080214 name: punctate palmoplantar keratoderma type I def: "A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles." [url:https\://pubmed.ncbi.nlm.nih.gov/23000146/] synonym: "punctate palmoplantar keratoderma type 1A" EXACT [] synonym: "punctate palmoplantar keratoderma type 1B" EXACT [] xref: MIM:148600 xref: MIM:614936 is_a: DOID:0060361 ! punctate palmoplantar keratoderma [Term] id: DOID:0080215 name: developmental and epileptic encephalopathy 8 def: "A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15215304, url:https\://www.ncbi.nlm.nih.gov/pubmed/21633362] synonym: "DEE8" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 8" EXACT [] synonym: "EIEE8" EXACT OMO:0003012 [] xref: MIM:300607 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080216 name: duodenal atresia def: "An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum." [url:https\://en.wikipedia.org/wiki/Duodenal_atresia] subset: DO_rare_slim xref: GARD:54 xref: MESH:C535720 xref: MIM:223400 is_a: DOID:10486 ! intestinal atresia [Term] id: DOID:0080217 name: lysosomal acid lipase deficiency def: "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31." [url:https\://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/, url:https\://www.ncbi.nlm.nih.gov/books/NBK395569/] subset: DO_rare_slim synonym: "LAL deficiency" EXACT [] synonym: "LAL-D" EXACT OMO:0003012 [] xref: GARD:12097 xref: ICD10CM:E75.5 xref: MIM:PS278000 xref: ORDO:275761 xref: UMLS_CUI:C5574740 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9455 ! lipid storage disease property_value: broadMatch "ICD10CM:E75.5" xsd:string property_value: exactMatch "GARD:12097" xsd:string property_value: exactMatch "MIM:PS278000" xsd:string property_value: exactMatch "ORDO:275761" xsd:string property_value: exactMatch "UMLS_CUI:C5574740" xsd:string [Term] id: DOID:0080218 name: primary spontaneous pneumothorax def: "A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung." [url:https\://ghr.nlm.nih.gov/condition/primary-spontaneous-pneumothorax] subset: DO_rare_slim xref: GARD:4997 xref: MIM:173600 is_a: DOID:1673 ! pneumothorax [Term] id: DOID:0080219 name: dystransthyretinemic hyperthyroxinemia def: "A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12." [url:https\://pubmed.ncbi.nlm.nih.gov/1979335/] xref: MIM:145680 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2855 ! hyperthyroxinemia [Term] id: DOID:0080220 name: obsolete major affective disorder 1 is_obsolete: true [Term] id: DOID:0080221 name: obsolete major affective disorder 2 is_obsolete: true [Term] id: DOID:0080222 name: pseudohypoparathyroidism type IB def: "A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6301273, url:https\://www.ncbi.nlm.nih.gov/pubmed/6325502] subset: DO_rare_slim xref: GARD:10680 xref: MESH:C548075 xref: MIM:603233 xref: ORDO:94089 is_a: DOID:4184 ! pseudohypoparathyroidism [Term] id: DOID:0080223 name: epidermolytic palmoplantar keratoderma def: "A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7544663] subset: DO_rare_slim subset: NCIthesaurus synonym: "EPPK" EXACT OMO:0003012 [] xref: GARD:2826 xref: MESH:D053546 xref: MIM:PS144200 xref: NCI:C84693 xref: ORDO:2199 xref: UMLS_CUI:C1721006 is_a: DOID:3390 ! palmoplantar keratosis property_value: exactMatch "GARD:2826" xsd:string property_value: exactMatch "MESH:D053546" xsd:string property_value: exactMatch "MIM:PS144200" xsd:string property_value: exactMatch "NCI:C84693" xsd:string property_value: exactMatch "ORDO:2199" xsd:string property_value: exactMatch "UMLS_CUI:C1721006" xsd:string [Term] id: DOID:0080224 name: autosomal dominant dystrophic epidermolysis bullosa def: "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen." [url:https\://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes] subset: DO_rare_slim xref: GARD:2139 xref: MIM:131750 is_a: DOID:4959 ! epidermolysis bullosa dystrophica [Term] id: DOID:0080225 name: amyotrophic lateral sclerosis type 23 def: "An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22." [url:https\://pubmed.ncbi.nlm.nih.gov/28469040/] xref: MIM:617839 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0080226 name: autosomal dominant intellectual developmental disorder 56 def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26822784, url:https\://www.ncbi.nlm.nih.gov/pubmed/29100083] synonym: "autosomal dominant intellectual developmental disorder-56" EXACT [] synonym: "autosomal dominant mental retardation 56" EXACT [] xref: MIM:617854 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080227 name: autosomal dominant intellectual developmental disorder 55 def: "An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29100083] synonym: "autosomal dominant intellectual developmental disorder-55 with seizures" EXACT [] synonym: "autosomal dominant mental retardation 55" EXACT [] xref: MIM:617831 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080228 name: autosomal dominant intellectual developmental disorder 53 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32." [url:https\://pubmed.ncbi.nlm.nih.gov/29100089/] synonym: "autosomal dominant mental retardation 53" EXACT [] xref: MIM:617798 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080229 name: obsolete autosomal dominant mental retardation 61 is_obsolete: true [Term] id: DOID:0080230 name: autosomal dominant intellectual developmental disorder 54 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13." [url:https\://pubmed.ncbi.nlm.nih.gov/29100089/] synonym: "autosomal dominant mental retardation 54" EXACT [] xref: MIM:617799 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080231 name: autosomal dominant intellectual developmental disorder 52 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22." [url:https\://pubmed.ncbi.nlm.nih.gov/23033978/] synonym: "autosomal dominant mental retardation 52" EXACT [] xref: MIM:617796 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080232 name: autosomal dominant intellectual developmental disorder 51 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13." [url:https\://pubmed.ncbi.nlm.nih.gov/28191889/] synonym: "autosomal dominant mental retardation 51" EXACT [] xref: MIM:617788 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080233 name: autosomal dominant intellectual developmental disorder 50 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31." [url:https\://pubmed.ncbi.nlm.nih.gov/28191889/] synonym: "autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities" EXACT [] synonym: "autosomal dominant mental retardation 50" EXACT [] xref: MIM:617787 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080234 name: Clark-Baraitser syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36." [url:https\://pubmed.ncbi.nlm.nih.gov/27848077/] subset: DO_rare_slim synonym: "autosomal dominant intellectual disability 49" EXACT [] synonym: "autosomal dominant mental retardation 49" EXACT [] synonym: "Baraitser syndrome" EXACT [] synonym: "CLABARS" EXACT OMO:0003012 [] xref: GARD:13584 xref: MESH:C536208 xref: MIM:617752 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080235 name: autosomal dominant intellectual developmental disorder 48 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22." [url:https\://pubmed.ncbi.nlm.nih.gov/28886345/] synonym: "autosomal dominant mental retardation 48" EXACT [] xref: MIM:617751 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080236 name: autosomal dominant intellectual developmental disorder 45 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/28288114/] synonym: "autosomal dominant mental retardation 45" EXACT [] xref: MIM:617600 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080237 name: autosomal dominant intellectual developmental disorder 46 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14." [url:https\://pubmed.ncbi.nlm.nih.gov/28669405/] synonym: "autosomal dominant mental retardation 46" EXACT [] xref: MIM:617601 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080238 name: autosomal dominant intellectual developmental disorder 47 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22." [url:https\://pubmed.ncbi.nlm.nih.gov/28119487/] synonym: "autosomal dominant mental retardation 47" EXACT [] xref: MIM:617635 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080239 name: autosomal recessive intellectual developmental disorder 61 alt_id: DOID:0080229 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27612186, url:https\://www.omim.org/entry/617773] synonym: "Alwadei syndrome" EXACT [] synonym: "autosomal recessive intellectual developmental disorder-61" EXACT [] synonym: "autosomal recessive mental retardation 61" EXACT [] xref: MIM:617773 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0080240 name: non-syndromic X-linked intellectual disability 106 def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/28302723/, url:https\://pubmed.ncbi.nlm.nih.gov/28584052/] synonym: "MRX106" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 106" EXACT [] xref: MIM:300997 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability [Term] id: DOID:0080241 name: syndromic X-linked mental retardation 35 def: "A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/26290468/] xref: MIM:300998 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0080242 name: syndromic X-linked mental retardation Hough type def: "A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22." [url:https\://pubmed.ncbi.nlm.nih.gov/28098945/] xref: MIM:301008 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0080243 name: amelogenesis imperfecta type 3B def: "An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene." [url:https\://pubmed.ncbi.nlm.nih.gov/27412008/] xref: MIM:617607 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111721 ! amelogenesis imperfecta type 3 [Term] id: DOID:0080244 name: Galloway-Mowat syndrome 2 def: "A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/28805828/] xref: MIM:301006 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080694 ! Galloway-Mowat syndrome [Term] id: DOID:0080245 name: Galloway-Mowat syndrome 3 def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11." [url:https\://pubmed.ncbi.nlm.nih.gov/28805828/] xref: MIM:617729 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080694 ! Galloway-Mowat syndrome [Term] id: DOID:0080246 name: Galloway-Mowat syndrome 4 def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13." [url:https\://pubmed.ncbi.nlm.nih.gov/28805828/] xref: MIM:617730 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080694 ! Galloway-Mowat syndrome [Term] id: DOID:0080247 name: Galloway-Mowat syndrome 5 def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13." [url:https\://pubmed.ncbi.nlm.nih.gov/28805828/] xref: MIM:617731 is_a: DOID:0080694 ! Galloway-Mowat syndrome [Term] id: DOID:0080248 name: erythrokeratodermia variabilis et progressiva 2 def: "An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34." [url:https\://pubmed.ncbi.nlm.nih.gov/12648223/] xref: MIM:617524 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080249 name: erythrokeratodermia variabilis et progressiva 3 def: "An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22." [url:https\://pubmed.ncbi.nlm.nih.gov/25398053/] xref: MIM:617525 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080250 name: erythrokeratodermia variabilis et progressiva 4 def: "An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21." [url:https\://pubmed.ncbi.nlm.nih.gov/28575652/] xref: MIM:617526 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080251 name: erythrokeratodermia variabilis et progressiva 5 def: "An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13." [url:https\://pubmed.ncbi.nlm.nih.gov/27965375/] xref: MIM:617756 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080252 name: spastic ataxia 8 def: "A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21." [url:https\://pubmed.ncbi.nlm.nih.gov/28575651/] xref: MIM:617560 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050952 ! spastic ataxia [Term] id: DOID:0080253 name: Meckel syndrome 13 def: "A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality." [url:https\://pubmed.ncbi.nlm.nih.gov/26123494/] xref: MIM:617562 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050778 ! Meckel syndrome [Term] id: DOID:0080254 name: orofaciodigital syndrome XVI def: "An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13." [url:https\://pubmed.ncbi.nlm.nih.gov/26518474/] xref: MIM:617563 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0080255 name: Meier-Gorlin syndrome 8 def: "A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12." [url:https\://pubmed.ncbi.nlm.nih.gov/28198391/] xref: MIM:617564 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080256 name: Perrault syndrome 6 def: "A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11." [url:https\://pubmed.ncbi.nlm.nih.gov/28449065/] xref: MIM:617565 is_a: DOID:0050857 ! Perrault syndrome [Term] id: DOID:0080257 name: autosomal recessive congenital ichthyosis 13 def: "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13." [url:https\://pubmed.ncbi.nlm.nih.gov/28369735/] xref: MIM:617574 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0080258 name: autosomal recessive congenital ichthyosis 14 def: "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/28575648/] xref: MIM:617571 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0080259 name: autosomal recessive spinocerebellar ataxia 25 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26812546] synonym: "SCAR25" EXACT OMO:0003012 [] xref: MIM:617584 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080260 name: autosomal recessive spinocerebellar ataxia 26 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28002403] synonym: "SCAR26" EXACT OMO:0003012 [] xref: MIM:617633 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080261 name: autosomal recessive nonsyndromic deafness 106 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15." [url:https\://pubmed.ncbi.nlm.nih.gov/26282398/] xref: MIM:617637 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0080262 name: autosomal recessive nonsyndromic deafness 107 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25." [url:https\://pubmed.ncbi.nlm.nih.gov/26881968/] xref: MIM:617639 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0080263 name: autosomal recessive nonsyndromic deafness 108 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31." [url:https\://pubmed.ncbi.nlm.nih.gov/27162350/] xref: MIM:617654 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0080264 name: exudative vitreoretinopathy 7 def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28575650] synonym: "EVR7" EXACT OMO:0003012 [] xref: MIM:617572 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080265 name: nephrotic syndrome type 14 def: "A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28165343, url:https\://www.ncbi.nlm.nih.gov/pubmed/30683667, url:https\://www.omim.org/entry/617575] xref: MIM:617575 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080266 name: primary ciliary dyskinesia 37 def: "A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21." [url:https\://pubmed.ncbi.nlm.nih.gov/25927852/] xref: MIM:617577 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0080267 name: autosomal dominant nonsyndromic deafness 71 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21." [url:https\://pubmed.ncbi.nlm.nih.gov/27657680/] xref: MIM:617605 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0080268 name: autosomal dominant nonsyndromic deafness 72 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21." [url:https\://pubmed.ncbi.nlm.nih.gov/28013291/] xref: MIM:617606 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0080269 name: autosomal dominant nonsyndromic deafness 73 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21." [url:https\://pubmed.ncbi.nlm.nih.gov/29309402/] xref: MIM:617663 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0080270 name: autosomal dominant nonsyndromic deafness 34 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44." [url:https\://pubmed.ncbi.nlm.nih.gov/28847925/] xref: MIM:617772 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0080271 name: nephrotic syndrome type 15 def: "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27932480] xref: MIM:617609 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080272 name: nephrotic syndrome type 16 def: "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25961457] xref: MIM:617783 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080273 name: polycystic kidney disease 5 def: "A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22." [url:https\://www.omim.org/entry/617610] xref: MIM:617610 is_a: DOID:0110861 ! autosomal recessive polycystic kidney disease [Term] id: DOID:0080274 name: multiple mitochondrial dysfunctions syndrome 5 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28356563, url:https\://www.ncbi.nlm.nih.gov/pubmed/29623423, url:https\://www.ncbi.nlm.nih.gov/pubmed/31016283] xref: MIM:617613 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome [Term] id: DOID:0080275 name: Joubert syndrome 30 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37." [url:https\://pubmed.ncbi.nlm.nih.gov/28625504/] xref: MIM:617622 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0080276 name: Joubert syndrome 29 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13." [url:https\://pubmed.ncbi.nlm.nih.gov/26595381/] comment: OMIM notes Meckel syndrome 13 and Joubert syndrome 29 are both caused by mutation in the TMEM107 gene [LS] is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0080277 name: Joubert syndrome 31 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23." [url:https\://pubmed.ncbi.nlm.nih.gov/27208211/] xref: MIM:617761 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0080278 name: Joubert syndrome 32 def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24." [url:https\://pubmed.ncbi.nlm.nih.gov/28965847/] xref: MIM:617757 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0080279 name: Joubert syndrome 33 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21." [url:https\://pubmed.ncbi.nlm.nih.gov/26167768/] xref: MIM:617767 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0080280 name: gingival fibromatosis 5 def: "A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12." [url:https\://pubmed.ncbi.nlm.nih.gov/28686854/] xref: MIM:617626 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060466 ! gingival fibromatosis [Term] id: DOID:0080281 name: schizophrenia 19 def: "A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11." [url:https\://pubmed.ncbi.nlm.nih.gov/28628109/] xref: MIM:617629 is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0080282 name: developmental and epileptic encephalopathy 56 def: "A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28777935] synonym: "DEE56" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 56" EXACT [] xref: MIM:617665 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080283 name: developmental and epileptic encephalopathy 55 def: "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22." [url:https\://pubmed.ncbi.nlm.nih.gov/32042915/, url:https\://www.ncbi.nlm.nih.gov/pubmed/28334793] synonym: "DEE55" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 55" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 14" EXACT [] synonym: "GPIBD14" EXACT OMO:0003012 [] xref: MIM:617599 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080284 name: developmental and epileptic encephalopathy 57 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31." [url:https\://pubmed.ncbi.nlm.nih.gov/29740868/, url:https\://pubmed.ncbi.nlm.nih.gov/32038177/, url:https\://www.ncbi.nlm.nih.gov/pubmed/29069600] synonym: "DEE57" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 57" EXACT [] xref: MIM:617771 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080285 name: developmental and epileptic encephalopathy 58 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29100083] synonym: "DEE58" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 58" EXACT [] xref: MIM:617830 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080286 name: spinocerebellar ataxia 44 def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24." [url:https\://pubmed.ncbi.nlm.nih.gov/28886343/] xref: MIM:617691 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0080287 name: spinocerebellar ataxia 45 def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33." [url:https\://pubmed.ncbi.nlm.nih.gov/29053796/] xref: MIM:617769 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0080288 name: spinocerebellar ataxia 46 def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/29053796/] xref: MIM:617770 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0080289 name: orofaciodigital syndrome XVII def: "An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28." [url:https\://pubmed.ncbi.nlm.nih.gov/23459408/] xref: MIM:617926 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0080290 name: familial erythrocytosis 5 def: "A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29514032] synonym: "ECYT5" EXACT OMO:0003012 [] xref: MIM:617907 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0080291 name: developmental and epileptic encephalopathy 59 def: "A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25262651] synonym: "DEE59" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 59" EXACT [] xref: MIM:617904 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080292 name: retinitis pigmentosa 81 def: "A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24." [url:https\://pubmed.ncbi.nlm.nih.gov/28973684/] xref: MIM:617871 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0080293 name: short-rib thoracic dysplasia 18 with polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24." [url:https\://pubmed.ncbi.nlm.nih.gov/28400947/] xref: MIM:617866 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080294 name: Charcot-Marie-Tooth disease dominant intermediate G def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21." [url:https\://pubmed.ncbi.nlm.nih.gov/28364294/] xref: MIM:617882 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080295 name: short-rib thoracic dysplasia 19 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24." [url:https\://pubmed.ncbi.nlm.nih.gov/27666822/] xref: MIM:617895 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080296 name: hypomyelinating leukodystrophy 14 def: "A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13." [url:https\://pubmed.ncbi.nlm.nih.gov/28931644/] xref: MIM:617899 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0080297 name: Coffin-Siris syndrome 6 def: "A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that\nhas_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12." [url:https\://pubmed.ncbi.nlm.nih.gov/28124119/] xref: MIM:617808 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0080298 name: complete generalized lipodystrophy def: "A lipodystrophy that is characterized by complete loss of adipose tissue." [url:https\://rarediseases.org/rare-diseases/acquired-lipodystrophy/] is_a: DOID:811 ! lipodystrophy [Term] id: DOID:0080299 name: partial lipodystrophy def: "A lipodystrophy that is characterized by partial loss of adipose tissue." [url:https\://rarediseases.org/rare-diseases/acquired-lipodystrophy/] is_a: DOID:811 ! lipodystrophy [Term] id: DOID:0080300 name: acquired generalized lipodystrophy def: "A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth." [url:http\://www.utsouthwestern.edu/media/files/2400/Generalized-Lawrence-Syndrome.pdf, url:https\://www.ncbi.nlm.nih.gov/pubmed/23287278] synonym: "Lawrence syndrome" EXACT [] is_a: DOID:0080298 ! complete generalized lipodystrophy [Term] id: DOID:0080301 name: atypical hemolytic-uremic syndrome def: "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction." [url:https\://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome#sourcesforpage, url:https\://rarediseases.info.nih.gov/diseases/8702/index#ref_2575, url:https\://www.ncbi.nlm.nih.gov/pubmed/29226095] subset: DO_rare_slim xref: GARD:8702 xref: MESH:D065766 xref: ORDO:2134 is_a: DOID:626 ! complement deficiency property_value: exactMatch "MESH:D065766" xsd:string [Term] id: DOID:0080302 name: mixed sleep apnea def: "A sleep apnea that is characterized by a combination of central and obstructive sleep apnea." [url:https\://en.wikipedia.org/wiki/Sleep_apnea#Mixed_apnea, url:https\://www.ncbi.nlm.nih.gov/pubmed/26681187] synonym: "complex sleep apnea" EXACT [] xref: MESH:D012891 xref: SNOMEDCT_US_2023_03_01:230493001 xref: UMLS_CUI:C0338495 is_a: DOID:0050847 ! sleep apnea [Term] id: DOID:0080303 name: mucinous lung adenocarcinoma def: "A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15628896] is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:0080304 name: lung mucinous cystadenocarcinoma def: "A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue." [url:https\://en.wikipedia.org/wiki/Mucinous_cystadenocarcinoma_of_the_lung, url:https\://www.ncbi.nlm.nih.gov/pubmed/14602331] is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:0080305 name: signet ring lung adenocarcinoma def: "A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16463270] is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:0080306 name: solid adenocarcinoma with mucin production def: "A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16463270] is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:0080307 name: myofibrillar myopathy def: "A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles." [url:https\://ghr.nlm.nih.gov/condition/myofibrillar-myopathy, url:https\://rarediseases.info.nih.gov/diseases/10529/myofibrillar-myopathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/23995273] subset: DO_rare_slim xref: GARD:10529 xref: MESH:C580316 xref: MIM:PS601419 is_a: DOID:423 ! myopathy [Term] id: DOID:0080308 name: myofibrillar myopathy 8 def: "A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12." [url:https\://ghr.nlm.nih.gov/condition/myofibrillar-myopathy] xref: MIM:617258 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080307 ! myofibrillar myopathy [Term] id: DOID:0080309 name: fatal infantile hypertonic myofibrillar myopathy def: "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23995273] xref: MIM:613869 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080307 ! myofibrillar myopathy [Term] id: DOID:0080311 name: X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance def: "A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16158428] xref: MIM:300486 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0080312 name: neurodevelopmental disorder with midbrain and hindbrain malformations def: "A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28453519] synonym: "NEDMHM" EXACT OMO:0003012 [] xref: MIM:617523 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050888 ! syndromic intellectual disability [Term] id: DOID:0080313 name: cleft palate-lateral synechia syndrome def: "A physical disorder that is characterized by fusion of maxilla and mandible." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24163560, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016] subset: DO_rare_slim synonym: "CPLS syndrome" EXACT [] synonym: "syngnathia" EXACT [] xref: MESH:C563047 xref: MIM:119550 xref: ORDO:2016 xref: SNOMEDCT_US_2023_03_01:403772000 xref: UMLS_CUI:C0795898 is_a: DOID:0080015 ! physical disorder [Term] id: DOID:0080314 name: cone-rod dystrophy 14 def: "A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28125083, url:https\://www.ncbi.nlm.nih.gov/pubmed/9425234] xref: MESH:C566579 xref: MIM:602093 xref: UMLS_CUI:C1838190 xref: UMLS_CUI:C1865869 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0080315 name: megalencephalic leukoencephalopathy with subcortical cysts def: "A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline." [url:https\://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts] subset: DO_rare_slim synonym: "megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome" EXACT [] synonym: "vacuolating megalencephalic leukoencephalopathy with subcortical cysts" EXACT [] xref: GARD:3445 xref: MESH:C536141 xref: MIM:PS604004 xref: ORDO:2478 xref: SNOMEDCT_US_2023_03_01:703536004 xref: UMLS_CUI:C1858854 is_a: DOID:10579 ! leukodystrophy [Term] id: DOID:0080316 name: megalencephalic leukoencephalopathy with subcortical cysts 1 def: "A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21419380] synonym: "leukoencephalopathy with swelling and cysts" EXACT [] synonym: "Van Der Knaap disease" EXACT [] xref: MESH:C536141 xref: MIM:604004 xref: SNOMEDCT_US_2023_03_01:703536004 xref: UMLS_CUI:C1858854 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts [Term] id: DOID:0080317 name: megalencephalic leukoencephalopathy with subcortical cysts 2B def: "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20517947] synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation" EXACT [] xref: MIM:613926 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts [Term] id: DOID:0080318 name: megalencephalic leukoencephalopathy with subcortical cysts 2A def: "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20517947, url:https\://www.ncbi.nlm.nih.gov/pubmed/21419380] xref: MIM:613925 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts [Term] id: DOID:0080319 name: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia def: "A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1)." [url:https\://ghr.nlm.nih.gov/condition/x-linked-immunodeficiency-with-magnesium-defect-epstein-barr-virus-infection-and-neoplasia#genes, url:https\://meshb.nlm.nih.gov/record/ui?ui=C536288, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=317476] synonym: "XMEN" EXACT OMO:0003012 [] xref: MIM:300853 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0080320 name: peripheral nervous system benign neoplasm def: "A central nervous system benign neoplasm the is located_in the peripheral nervous system." [url:https\://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors-benign/symptoms-causes/syc-20368680] is_a: DOID:0060090 ! central nervous system benign neoplasm [Term] id: DOID:0080321 name: autonomic nervous system benign neoplasm def: "A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system." [url:https\://en.wikipedia.org/wiki/Autonomic_nervous_system] is_a: DOID:0080320 ! peripheral nervous system benign neoplasm [Term] id: DOID:0080322 name: polycystic kidney disease def: "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." [url:https\://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/what-is-pkd] xref: MIM:PS173900 is_a: DOID:2975 ! cystic kidney disease [Term] id: DOID:0080323 name: pancreatic squamous cell carcinoma def: "A squamous cell carcinoma located in the pancreas." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437439/] is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:1793 ! pancreatic cancer [Term] id: DOID:0080324 name: tuberous sclerosis 1 def: "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34." [url:https\://www.omim.org/entry/191100] xref: MESH:C565346 xref: MIM:191100 is_a: DOID:13515 ! tuberous sclerosis [Term] id: DOID:0080325 name: tuberous sclerosis 2 def: "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28667702, url:https\://www.omim.org/entry/613254] xref: MESH:C566021 xref: MIM:613254 is_a: DOID:13515 ! tuberous sclerosis [Term] id: DOID:0080326 name: familial hypertrophic cardiomyopathy def: "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations." [url:https\://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#genes] subset: DO_rare_slim subset: NCIthesaurus xref: MESH:D024741 xref: MIM:PS192600 xref: NCI:C84773 xref: ORDO:217569 xref: SNOMEDCT_US_2023_03_01:83978005 xref: UMLS_CUI:C0949658 is_a: DOID:11984 ! hypertrophic cardiomyopathy [Term] id: DOID:0080327 name: multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly def: "A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=28264986] synonym: "MARCH" EXACT OMO:0003012 [] xref: MIM:236500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080328 name: Culler-Jones syndrome def: "A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity." [url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=29298444] subset: DO_rare_slim xref: GARD:13349 xref: MIM:615849 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080329 name: cold-induced sweating syndrome 1 def: "A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention." [url:https\://www.ncbi.nlm.nih.gov/books/NBK52917/] xref: MIM:272430 is_a: DOID:0060294 ! cold-induced sweating syndrome [Term] id: DOID:0080330 name: cold-induced sweating syndrome 2 def: "A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20400119] xref: MIM:610313 is_a: DOID:0060294 ! cold-induced sweating syndrome [Term] id: DOID:0080331 name: cold-induced sweating syndrome 3 def: "A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27392078] xref: MIM:617055 is_a: DOID:0060294 ! cold-induced sweating syndrome [Term] id: DOID:0080332 name: bicuspid aortic valve disease def: "An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives." [url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402075] subset: DO_rare_slim synonym: "Familial bicuspid aortic valve" EXACT [] xref: MESH:D000082882 xref: MIM:PS109730 xref: ORDO:402075 is_a: DOID:62 ! aortic valve disease [Term] id: DOID:0080333 name: aortic valve disease 1 def: "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23388002] xref: MIM:109730 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080332 ! bicuspid aortic valve disease [Term] id: DOID:0080334 name: aortic valve disease 2 def: "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22275001] xref: MIM:614823 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080332 ! bicuspid aortic valve disease [Term] id: DOID:0080335 name: mitochondrial DNA depletion syndrome 12b def: "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35." [url:https\://ghr.nlm.nih.gov/gene/SLC25A4#conditions, url:https\://www.ncbi.nlm.nih.gov/pubmed/22187496, url:https\://www.ncbi.nlm.nih.gov/pubmed/27693233] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:1142 xref: MIM:615418 xref: NCI:C129977 xref: ORDO:1369 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080336 name: mitochondrial DNA depletion syndrome 14 def: "A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26561570, url:https\://www.ncbi.nlm.nih.gov/pubmed/28215579, url:https\://www.ncbi.nlm.nih.gov/pubmed/28494813] xref: MIM:616896 is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080337 name: mitochondrial DNA depletion syndrome 15 def: "A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21." [url:https\://ghr.nlm.nih.gov/gene/TFAM#conditions, url:https\://www.ncbi.nlm.nih.gov/pubmed/27448789, url:https\://www.ncbi.nlm.nih.gov/pubmed/28215579] xref: MIM:617156 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome [Term] id: DOID:0080338 name: familial erythrocytosis 3 def: "A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16407130] synonym: "ECYT3" EXACT OMO:0003012 [] xref: MIM:609820 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0080339 name: familial erythrocytosis 4 def: "A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18184961] synonym: "ECYT4" EXACT OMO:0003012 [] xref: MIM:611783 is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0080340 name: obsolete X-linked dominant disease is_obsolete: true [Term] id: DOID:0080341 name: obsolete X-linked recessive disease is_obsolete: true [Term] id: DOID:0080342 name: Simpson-Golabi-Behmel syndrome type 2 def: "A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16783569] subset: DO_rare_slim xref: MIM:300209 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080343 name: autosomal recessive pyridoxine-refractory sideroblastic anemia 3 def: "A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32." [url:https\://www.omim.org/entry/616860?search=616860&highlight=616860] xref: MIM:616860 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0080344 name: blepharocheilodontic syndrome def: "A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28301459] synonym: "Blepharo-cheilo-odontic syndrome" EXACT [] xref: MESH:C536188 xref: MIM:PS119580 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080345 name: blepharocheilodontic syndrome 1 def: "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28301459] xref: MIM:119580 is_a: DOID:0080344 ! blepharocheilodontic syndrome [Term] id: DOID:0080346 name: blepharocheilodontic syndrome 2 def: "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28301459] xref: MIM:617681 is_a: DOID:0080344 ! blepharocheilodontic syndrome [Term] id: DOID:0080347 name: malignant pheochromocytoma def: "An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones." [url:https\://www.omim.org/entry/171300] subset: DO_cancer_slim synonym: "Pheochromocytoma, malignant" EXACT [] xref: ICDO:8700/3 is_a: DOID:5719 ! adrenal medulla cancer [Term] id: DOID:0080348 name: Alzheimer's disease 1 def: "An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21." [url:https\://www.omim.org/entry/104300?search=104300&highlight=104300] synonym: "Alzheimer's disease 1, early onset" EXACT [] xref: MIM:104300 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0080349 name: developmental and epileptic encephalopathy 39 alt_id: DOID:0080423 def: "A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31." [url:https\://pubmed.ncbi.nlm.nih.gov/19641205/, url:https\://pubmed.ncbi.nlm.nih.gov/24515575/, url:https\://www.omim.org/entry/612949?search=612949] subset: DO_rare_slim synonym: "AGC1 deficiency" EXACT [] synonym: "early infantile epileptic encephalopathy 39" EXACT [] synonym: "epileptic encephalopathy with global cerebral demyelination" EXACT [] xref: MESH:C567847 xref: MIM:612949 xref: ORDO:353217 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080350 name: retinitis pigmentosa 77 def: "A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13." [url:https\://www.omim.org/entry/617304] xref: ICD10CM:H35.5 xref: MIM:617304 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0080351 name: CLOVES syndrome def: "A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25209813] subset: DO_rare_slim synonym: "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi" EXACT [] xref: GARD:10939 xref: ICD10CM:Q87.3 xref: MIM:612918 xref: ORDO:140944 is_a: DOID:225 ! syndrome [Term] id: DOID:0080352 name: X-linked chondrodysplasia punctata 2 def: "A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11." [url:https\://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2] synonym: "Conradi-Hunermann Syndrome" EXACT [] synonym: "Happle syndrome" EXACT [] xref: MIM:302960 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:2581 ! chondrodysplasia punctata [Term] id: DOID:0080353 name: X-linked recessive hypophosphatemic rickets def: "A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22." [url:https\://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets] xref: MIM:300554 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10609 ! rickets [Term] id: DOID:0080354 name: Phelan-McDermid syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development." [url:https\://en.wikipedia.org/wiki/22q13_deletion_syndrome, url:https\://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1198/, url:https\://www.ncbi.nlm.nih.gov/pubmed/29719671, url:https\://www.ncbi.nlm.nih.gov/pubmed/29896732, url:https\://www.ncbi.nlm.nih.gov/pubmed/30089781, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=48652] subset: DO_rare_slim synonym: "22q13.3 deletion syndrome" EXACT [] synonym: "monosomy 22q13 syndrome" EXACT [] xref: GARD:10130 xref: MIM:606232 xref: ORDO:48652 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0080355 name: hepatobiliary system cancer def: "A gastrointestinal system cancer that is located_in the hepatobiliary system." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461147/] is_a: DOID:3119 ! gastrointestinal system cancer [Term] id: DOID:0080356 name: IgG4-related disease def: "An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs." [url:https\://rarediseases.info.nih.gov/diseases/12521/index, url:https\://www.ncbi.nlm.nih.gov/articles/PMC4760655/, url:https\://www.nejm.org/doi/full/10.1056/NEJMra1104650] subset: DO_rare_slim xref: GARD:12521 xref: ORDO:284264 is_a: DOID:417 ! autoimmune disease [Term] id: DOID:0080357 name: mitochondrial complex IV deficiency nuclear type 2 def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13." [url:https\://pubmed.ncbi.nlm.nih.gov/10746561/] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1" EXACT [] synonym: "MC4DN2" EXACT OMO:0003012 [] xref: MIM:604377 xref: UMLS_CUI:C5399977 is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy is_a: DOID:0050737 ! autosomal recessive disease property_value: exactMatch "MIM:604377" xsd:string property_value: exactMatch "UMLS_CUI:C5399977" xsd:string [Term] id: DOID:0080358 name: mitochondrial complex IV deficiency nuclear type 6 def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24." [url:https\://pubmed.ncbi.nlm.nih.gov/10545952/] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2" EXACT [] synonym: "MC4DN6" EXACT OMO:0003012 [] xref: MIM:615119 xref: UMLS_CUI:C3554534 is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy is_a: DOID:0050737 ! autosomal recessive disease property_value: exactMatch "MIM:615119" xsd:string property_value: exactMatch "UMLS_CUI:C3554534" xsd:string [Term] id: DOID:0080359 name: mitochondrial complex IV deficiency nuclear type 9 def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11." [url:https\://pubmed.ncbi.nlm.nih.gov/12928484/] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3" EXACT [] synonym: "MC4DN9" EXACT OMO:0003012 [] xref: MIM:616500 xref: UMLS_CUI:C4225154 is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy is_a: DOID:0050737 ! autosomal recessive disease property_value: exactMatch "MIM:616500" xsd:string property_value: exactMatch "UMLS_CUI:C4225154" xsd:string [Term] id: DOID:0080360 name: mitochondrial complex IV deficiency nuclear type 13 def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42." [url:https\://pubmed.ncbi.nlm.nih.gov/25339201/] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4" EXACT [] synonym: "MC4DN13" EXACT OMO:0003012 [] xref: MIM:616501 xref: UMLS_CUI:C4225304 is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy is_a: DOID:0050737 ! autosomal recessive disease property_value: exactMatch "MIM:616501" xsd:string property_value: exactMatch "UMLS_CUI:C4225304" xsd:string [Term] id: DOID:0080361 name: trimethylaminuria def: "An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24." [url:https\://ghr.nlm.nih.gov/condition/trimethylaminuria, url:https\://www.genome.gov/Genetic-Disorders/Trimethylaminuria] subset: DO_rare_slim synonym: "fish-odor syndrome" EXACT [] xref: GARD:6447 xref: MESH:C536561 xref: MIM:602079 xref: ORDO:468726 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0080362 name: X-linked spondyloepiphyseal dysplasia tarda def: "A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22." [url:https\://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda] xref: MIM:313400 is_a: DOID:0060564 ! spinal disease is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda [Term] id: DOID:0080363 name: mitochondrial pyruvate carrier deficiency def: "A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22628558] subset: DO_rare_slim xref: MIM:614741 xref: ORDO:447784 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0080364 name: malignant adenoma def: "A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer." [url:https\://pubmed.ncbi.nlm.nih.gov/18363065/] is_a: DOID:0050687 ! cell type cancer [Term] id: DOID:0080365 name: endometrial hyperplasia def: "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium." [url:https\://en.wikipedia.org/wiki/Endometrial_hyperplasia] subset: DO_cancer_slim xref: MESH:D004714 is_a: DOID:0060095 ! uterine benign neoplasm [Term] id: DOID:0080366 name: desmoid tumor def: "A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs." [url:https\://ghr.nlm.nih.gov/condition/desmoid-tumor, url:https\://rarediseases.org/rare-diseases/desmoid-tumor/, url:https\://www.ncbi.nlm.nih.gov/pubmed/28489620] subset: DO_cancer_slim is_a: DOID:0060123 ! connective tissue benign neoplasm [Term] id: DOID:0080367 name: chronic eosinophilic leukemia def: "A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues." [url:https\://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemia, url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/chronic-eosinophilic-leukemia] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9964/3 xref: NCI:C4563 is_a: DOID:1036 ! chronic leukemia [Term] id: DOID:0080368 name: sex cord-stromal benign neoplasm def: "A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/sex-cord-stromal-tumor] is_a: DOID:0050622 ! reproductive organ benign neoplasm [Term] id: DOID:0080369 name: ovarian sex-cord stromal tumor def: "A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4862&ns=ncit] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C4862 is_a: DOID:192 ! sex cord-gonadal stromal tumor [Term] id: DOID:0080370 name: ovarian sex cord-stromal benign neoplasm def: "A sex cord-stromal benign neoplasm that arises from the ovary." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498422/] subset: NCIthesaurus xref: NCI:C6803 is_a: DOID:0080368 ! sex cord-stromal benign neoplasm [Term] id: DOID:0080371 name: testicular sex cord-stromal benign neoplasm def: "A sex cord-stromal benign neoplasm that arises from the testis." [url:http\://www.pathologyoutlines.com/topic/testissexcordgeneral.html] is_a: DOID:0080368 ! sex cord-stromal benign neoplasm [Term] id: DOID:0080372 name: epithelioid inflammatory myofibroblastic sarcoma def: "An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21164297] subset: DO_cancer_slim is_a: DOID:0050905 ! inflammatory myofibroblastic tumor [Term] id: DOID:0080373 name: epididymis disease def: "A male reproductive system disease that is located_in the epididymis." [url:https\://en.wikipedia.org/wiki/Epididymis] is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:0080374 name: gastroesophageal cancer def: "A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042434] is_a: DOID:3119 ! gastrointestinal system cancer [Term] id: DOID:0080375 name: gastroesophageal adenocarcinoma def: "A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5827797] synonym: "gastric and esophageal adenocarcinoma" EXACT [] synonym: "gastro-esophageal adenocarcinoma" EXACT [] is_a: DOID:0080374 ! gastroesophageal cancer is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:0080376 name: trichorhinophalangeal syndrome type III def: "A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23." [url:https\://rarediseases.info.nih.gov/diseases/7802/disease] subset: DO_rare_slim synonym: "trichorhinophalangeal syndrome type 3" EXACT [] xref: MIM:190351 xref: ORDO:77258 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080377 name: peroxisomal biogenesis disorder alt_id: DOID:0080378 def: "A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes." [url:https\://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, url:https\://rarediseases.org/rare-diseases/zellweger-spectrum-disorders/, url:https\://www.ncbi.nlm.nih.gov/pubmed/26627182] xref: MIM:PS214100 is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0080378 name: obsolete Zellweger spectrum disorder is_obsolete: true [Term] id: DOID:0080379 name: nephrotic syndrome type 2 def: "A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10742096, url:https\://www.ncbi.nlm.nih.gov/pubmed/8606597] synonym: "steroid-resistant autosomal recessive nephrotic syndrome" EXACT [] xref: MIM:600995 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080380 name: nephrotic syndrome type 5 def: "A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16912710] synonym: "nephrotic syndrome type 5, with or without ocular abnormalities" EXACT [] xref: MIM:614199 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080381 name: nephrotic syndrome type 13 def: "A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26878725] xref: MIM:616893 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080382 name: nephrotic syndrome type 3 def: "A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17086182, url:https\://www.ncbi.nlm.nih.gov/pubmed/18065803] synonym: "early onset nephrotic syndrome type 3" EXACT [] xref: MIM:610725 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080383 name: nephrotic syndrome type 4 def: "A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9529364] xref: MIM:256370 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080384 name: nephrotic syndrome type 6 def: "A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the PTPRO gene on chromosome 12p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21722858] xref: MIM:614196 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080385 name: nephrotic syndrome type 11 def: "A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26411495] xref: MIM:616730 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080386 name: nephrotic syndrome type 10 def: "A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24814193] xref: MIM:615861 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080387 name: nephrotic syndrome type 12 def: "A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26878725] xref: MIM:616892 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080388 name: nephrotic syndrome type 7 def: "A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23274426] subset: DO_rare_slim synonym: "Ig-mediated membranoproliferative glomerulonephritis" EXACT [] synonym: "Ig-mediated MPGN" EXACT [] synonym: "immunoglobulin-mediated membranoproliferative glomerulonephritis" EXACT [] synonym: "Immunoglobulin-mediated MPGN" EXACT [] synonym: "nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis" EXACT [] xref: MIM:615008 xref: ORDO:329903 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080389 name: nephrotic syndrome type 8 def: "A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23434736, url:https\://www.ncbi.nlm.nih.gov/pubmed/23867502] xref: MIM:615244 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080390 name: nephrotic syndrome type 1 def: "A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10577936, url:https\://www.ncbi.nlm.nih.gov/pubmed/9660941] subset: DO_rare_slim subset: NCIthesaurus synonym: "Finnish congenital nephrosis" EXACT [] xref: GARD:1500 xref: MEDDRA:10060740 xref: MIM:256300 xref: NCI:C122795 xref: ORDO:839 xref: SNOMEDCT_US_2023_03_01:197601003 xref: UMLS_CUI:C0403399 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080391 name: nephrotic syndrome type 9 def: "A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24270420] xref: MIM:615573 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080392 name: nephrotic syndrome type 17 def: "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30179222] xref: MIM:618176 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080393 name: nephrotic syndrome type 18 def: "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30179222] xref: MIM:618177 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080394 name: nephrotic syndrome type 19 def: "A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30179222] xref: MIM:618178 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080395 name: orofacial cleft 1 def: "An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7711723] synonym: "nonsyndromic cleft lip with or without cleft palate 1" EXACT [] xref: MESH:C566121 xref: MIM:119530 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080396 name: orofacial cleft 2 def: "An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2570526] synonym: "nonsyndromic cleft lip with or without cleft palate 2" EXACT [] xref: MESH:C566419 xref: MIM:602966 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080397 name: orofacial cleft 3 def: "An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7668251] synonym: "nonsyndromic cleft lip with or without cleft palate 3" EXACT [] xref: MESH:C563448 xref: MIM:600757 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080398 name: orofacial cleft 4 def: "An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12087515, url:https\://www.ncbi.nlm.nih.gov/pubmed/7820940] synonym: "nonsyndromic cleft lip with or without cleft palate 4" EXACT [] xref: MESH:C564251 xref: MIM:608371 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080399 name: orofacial cleft 5 def: "An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10742093, url:https\://www.ncbi.nlm.nih.gov/pubmed/12807959] synonym: "nonsyndromic cleft lip with or without cleft palate 5" EXACT [] xref: MESH:C563843 xref: MIM:608874 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080400 name: orofacial cleft 7 def: "An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10932188] synonym: "Zlotogora-Ogur syndrome" EXACT [] xref: MESH:C563464 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050737 ! autosomal recessive disease property_value: exactMatch "MESH:C563464" xsd:string [Term] id: DOID:0080401 name: orofacial cleft 8 def: "An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29500247] xref: MIM:618149 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080402 name: orofacial cleft 9 def: "An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16909398] synonym: "nonsyndromic cleft lip with or without cleft palate 9" EXACT [] xref: MESH:C563675 xref: MIM:610361 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080403 name: orofacial cleft 10 def: "An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16990542] synonym: "nonsyndromic cleft lip with or without cleft palate 10" EXACT [] xref: MESH:C566605 xref: MIM:613705 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080404 name: orofacial cleft 11 def: "An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19249007] synonym: "nonsyndromic cleft lip with or without cleft palate 11" EXACT [] xref: MESH:C567410 xref: MIM:600625 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080405 name: orofacial cleft 12 def: "An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19270707] synonym: "nonsyndromic cleft lip with or without cleft palate 12" EXACT [] xref: MESH:C567548 xref: MIM:612858 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080406 name: orofacial cleft 13 def: "An orofacial cleft characterized by autosomal doninant inhertitance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21295280] xref: MIM:613857 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080407 name: orofacial cleft 14 def: "An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors." [url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401942] xref: MIM:615892 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080408 name: orofacial cleft 15 def: "An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25954033] xref: MIM:616788 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080409 name: familial adenomatous polyposis 1 def: "A familial adenomatous polyposis that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22." [url:https\://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis, url:https\://www.ncbi.nlm.nih.gov/pubmed/1651563] xref: MIM:175100 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080410 name: familial adenomatous polyposis 2 def: "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12853198] subset: DO_rare_slim synonym: "MUTYH-associated polyposis" EXACT [] synonym: "MUTYH-related attenuated familial adenomatous polyposis" EXACT [] synonym: "MUTYH-related attenuated familial polyposis coli" EXACT [] synonym: "MUTYH-related attenuated FAP" EXACT [] xref: ICD10CM:D12.6 xref: MIM:608456 xref: ORDO:247798 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080411 name: familial adenomatous polyposis 3 def: "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25938944] xref: MIM:616415 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080412 name: familial adenomatous polyposis 4 def: "A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27476653] xref: MIM:617100 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080413 name: developmental and epileptic encephalopathy 18 def: "A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23932106] subset: DO_rare_slim synonym: "DEE18" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 18" EXACT [] xref: GARD:13676 xref: MIM:615476 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080414 name: developmental and epileptic encephalopathy 15 def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23252400] synonym: "DEE15" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 15" EXACT [] xref: MIM:615006 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080415 name: developmental and epileptic encephalopathy 23 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24814191] subset: DO_rare_slim synonym: "DEE23" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 23" EXACT [] synonym: "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT [] synonym: "Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT [] xref: MIM:615859 xref: ORDO:411986 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080416 name: developmental and epileptic encephalopathy 32 def: "A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25751627] synonym: "DEE32" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 32" EXACT [] xref: MIM:616366 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080417 name: developmental and epileptic encephalopathy 38 def: "A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42." [url:https\://pubmed.ncbi.nlm.nih.gov/32165008/, url:https\://www.ncbi.nlm.nih.gov/pubmed/25558065, url:https\://www.ncbi.nlm.nih.gov/pubmed/27270415] synonym: "DEE38" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 38" EXACT [] xref: MIM:617020 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080418 name: developmental and epileptic encephalopathy 54 def: "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27652284] synonym: "DEE54" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 54" EXACT [] xref: MIM:617391 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080419 name: developmental and epileptic encephalopathy 50 def: "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28007989] subset: DO_rare_slim synonym: "Carbohydrate deficient glycoprotein syndrome type Iz" EXACT [] synonym: "CDG syndrome type Iz" EXACT [] synonym: "CDG-Iz" EXACT OMO:0003012 [] synonym: "Congenital disorder of glycosylation type 1z" EXACT [] synonym: "DEE50" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 50" EXACT [] xref: GARD:13621 xref: MIM:616457 xref: ORDO:448010 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080420 name: developmental and epileptic encephalopathy 62 def: "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29466837] synonym: "DEE62" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 62" EXACT [] xref: MIM:617938 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080421 name: developmental and epileptic encephalopathy 11 def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19786696] synonym: "DEE11" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 11" EXACT [] xref: MIM:613721 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080422 name: Dravet syndrome alt_id: DOID:0060171 def: "A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24." [url:https\://pubmed.ncbi.nlm.nih.gov/27544470/, url:https\://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/11359211] subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "DEE6" EXACT OMO:0003012 [] synonym: "DEE6A" EXACT OMO:0003012 [] synonym: "developmental and epileptic encephalopathy 6" EXACT [] synonym: "developmental and epileptic encephalopathy 6A" EXACT [] synonym: "early infantile epileptic encephalopathy 6" EXACT [] synonym: "severe myoclonic epilepsy of infancy" EXACT [] xref: GARD:10430 xref: MIM:607208 xref: ORDO:33069 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080423 name: obsolete early infantile epileptic encephalopathy 39 is_obsolete: true [Term] id: DOID:0080424 name: developmental and epileptic encephalopathy 44 def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22." [url:https\://pubmed.ncbi.nlm.nih.gov/27545681/, url:https\://www.ncbi.nlm.nih.gov/pubmed/27545674] synonym: "DEE44" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 44" EXACT [] xref: MIM:617132 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080425 name: developmental and epileptic encephalopathy 47 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28." [url:https\://pubmed.ncbi.nlm.nih.gov/27872899/, url:https\://www.ncbi.nlm.nih.gov/pubmed/27164707] synonym: "DEE47" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 47" EXACT [] xref: MIM:617166 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080426 name: developmental and epileptic encephalopathy 63 def: "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16." [url:https\://pubmed.ncbi.nlm.nih.gov/28422131/, url:https\://www.ncbi.nlm.nih.gov/pubmed/26539891] synonym: "DEE63" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 63" EXACT [] xref: MIM:617976 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080427 name: developmental and epileptic encephalopathy 40 def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26486472] synonym: "DEE40" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 40" EXACT [] xref: MIM:617065 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080428 name: developmental and epileptic encephalopathy 45 def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13." [url:https\://pubmed.ncbi.nlm.nih.gov/31618474/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23934111] synonym: "DEE45" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 45" EXACT [] xref: MIM:617153 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080429 name: developmental and epileptic encephalopathy 24 def: "A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12." [url:https\://pubmed.ncbi.nlm.nih.gov/30351409/, url:https\://www.ncbi.nlm.nih.gov/pubmed/24747641] synonym: "DEE24" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 24" EXACT [] xref: MIM:615871 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080430 name: developmental and epileptic encephalopathy 65 def: "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29534297] synonym: "DEE65" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 65" EXACT [] xref: MIM:618008 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080431 name: developmental and epileptic encephalopathy 19 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24623842] synonym: "DEE19" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 19" EXACT [] xref: MIM:615744 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080432 name: developmental and epileptic encephalopathy 60 def: "A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29394991] synonym: "DEE60" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 60" EXACT [] xref: MIM:617929 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080433 name: developmental and epileptic encephalopathy 51 def: "A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27989324] synonym: "DEE51" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 51" EXACT [] xref: MIM:617339 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080434 name: developmental and epileptic encephalopathy 61 def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27066583] synonym: "DEE61" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 61" EXACT [] xref: MIM:617933 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080435 name: developmental and epileptic encephalopathy 37 def: "A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27236917] synonym: "DEE37" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 37" EXACT [] xref: MIM:616981 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080436 name: developmental and epileptic encephalopathy 4 def: "A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1." [url:https\://pubmed.ncbi.nlm.nih.gov/19557857/, url:https\://www.ncbi.nlm.nih.gov/pubmed/18469812] synonym: "DEE4" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 4" EXACT [] xref: MIM:612164 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080437 name: developmental and epileptic encephalopathy 31A def: "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34." [url:https\://pubmed.ncbi.nlm.nih.gov/25533962/, url:https\://www.ncbi.nlm.nih.gov/pubmed/25262651] synonym: "DEE31" EXACT OMO:0003012 [] synonym: "DEE31A" EXACT OMO:0003012 [] synonym: "developmental and epileptic encephalopathy 31" EXACT [] synonym: "early infantile epileptic encephalopathy 31" EXACT [] xref: MIM:616346 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080438 name: developmental and epileptic encephalopathy 5 def: "A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20493457] synonym: "DEE5" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 5" EXACT [] xref: MIM:613477 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080439 name: developmental and epileptic encephalopathy 14 def: "A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23086397] synonym: "DEE14" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 14" EXACT [] xref: MIM:614959 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080440 name: developmental and epileptic encephalopathy 3 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15592994] synonym: "early infantile epileptic encephalopathy 3" EXACT [] xref: MIM:609304 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080441 name: developmental and epileptic encephalopathy 49 def: "A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27866705] synonym: "DEE49" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 49" EXACT [] xref: MIM:617281 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080442 name: developmental and epileptic encephalopathy 41 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27476654] synonym: "DEE41" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 41" EXACT [] xref: MIM:617105 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080443 name: developmental and epileptic encephalopathy 21 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13." [url:https\://pubmed.ncbi.nlm.nih.gov/30525121/, url:https\://www.ncbi.nlm.nih.gov/pubmed/24399846] synonym: "DEE21" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 21" EXACT [] xref: MIM:615833 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080444 name: developmental and epileptic encephalopathy 27 def: "A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24272827, url:https\://www.ncbi.nlm.nih.gov/pubmed/28377535] synonym: "DEE27" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 27" EXACT [] xref: MIM:616139 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080445 name: developmental and epileptic encephalopathy 13 def: "A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13." [url:https\://pubmed.ncbi.nlm.nih.gov/24888894/, url:https\://www.ncbi.nlm.nih.gov/pubmed/22365152] synonym: "DEE13" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 13" EXACT [] xref: MIM:614558 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080446 name: developmental and epileptic encephalopathy 66 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29656858] synonym: "DEE66" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 66" EXACT [] xref: MIM:618067 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080447 name: developmental and epileptic encephalopathy 43 def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11." [url:https\://pubmed.ncbi.nlm.nih.gov/27476654/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23934111] synonym: "DEE43" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 43" EXACT [] xref: MIM:617113 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080448 name: developmental and epileptic encephalopathy 48 def: "A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27889060] synonym: "DEE48" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 48" EXACT [] xref: MIM:617276 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080449 name: developmental and epileptic encephalopathy 16 def: "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21087195, url:https\://www.ncbi.nlm.nih.gov/pubmed/23526554] subset: DO_rare_slim synonym: "DEE16" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 16" EXACT [] xref: MIM:615338 xref: ORDO:352596 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080450 name: developmental and epileptic encephalopathy 17 def: "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23993195] synonym: "DEE17" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 17" EXACT [] xref: MIM:615473 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080451 name: developmental and epileptic encephalopathy 29 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25817015] synonym: "DEE29" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 29" EXACT [] xref: MIM:616339 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080452 name: developmental and epileptic encephalopathy 28 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23." [url:https\://pubmed.ncbi.nlm.nih.gov/25411445/, url:https\://www.ncbi.nlm.nih.gov/pubmed/24456803] synonym: "DEE28" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 28" EXACT [] xref: MIM:616211 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080453 name: developmental and epileptic encephalopathy 25 def: "A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13." [url:https\://pubmed.ncbi.nlm.nih.gov/27600704/, url:https\://www.ncbi.nlm.nih.gov/pubmed/24995870] subset: DO_rare_slim synonym: "DEE25" EXACT OMO:0003012 [] synonym: "developmental and epileptic encephalopathy 25, with amelogenesis imperfecta" EXACT [] synonym: "early infantile epileptic encephalopathy 25" EXACT [] xref: GARD:12901 xref: MIM:615905 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080454 name: developmental and epileptic encephalopathy 42 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27476654] synonym: "DEE42" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 42" EXACT [] xref: MIM:617106 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080455 name: developmental and epileptic encephalopathy 52 def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19710327] synonym: "DEE52" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 52" EXACT [] xref: MIM:617350 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080456 name: developmental and epileptic encephalopathy 46 def: "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/30280376/, url:https\://www.ncbi.nlm.nih.gov/pubmed/27616483] synonym: "DEE46" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 46" EXACT [] xref: MIM:617162 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080457 name: microcephaly, seizures, and developmental delay def: "A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20118933, url:https\://www.ncbi.nlm.nih.gov/pubmed/23224214] synonym: "developmental and epileptic encephalopathy 10" EXACT [] synonym: "early infantile epileptic encephalopathy 10" EXACT [] xref: MIM:613402 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080458 name: developmental and epileptic encephalopathy 35 def: "A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26224535] subset: DO_rare_slim synonym: "DEE35" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 35" EXACT [] synonym: "ITPA-related encephalopathy" EXACT [] xref: MIM:616647 xref: ORDO:457375 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080459 name: developmental and epileptic encephalopathy 12 def: "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3." [url:https\://pubmed.ncbi.nlm.nih.gov/22690784/, url:https\://www.ncbi.nlm.nih.gov/pubmed/20833646] synonym: "DEE12" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 12" EXACT [] xref: MIM:613722 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080460 name: developmental and epileptic encephalopathy 34 def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26333769] synonym: "DEE34" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 34" EXACT [] xref: MIM:616645 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080461 name: developmental and epileptic encephalopathy 26 def: "A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25164438] subset: DO_rare_slim synonym: "DEE26" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 26" EXACT [] xref: GARD:12391 xref: MIM:616056 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080462 name: developmental and epileptic encephalopathy 7 def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15249611] subset: DO_rare_slim synonym: "early infantile epileptic encephalopathy 7" EXACT [] synonym: "KCNQ2-related epileptic encephalopathy" EXACT [] synonym: "KCNQ2-related neonatal epileptic encephalopathy" EXACT [] xref: MIM:613720 xref: ORDO:439218 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080463 name: developmental and epileptic encephalopathy 33 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23033978] synonym: "DEE33" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 33" EXACT [] xref: MIM:616409 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080464 name: developmental and epileptic encephalopathy 53 def: "A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27435091] synonym: "DEE53" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 53" EXACT [] xref: MIM:617389 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080465 name: developmental and epileptic encephalopathy 30 def: "A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25839329] synonym: "DEE30" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 30" EXACT [] xref: MIM:616341 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080466 name: obsolete multiple congenital anomalies-hypotonia-seizures syndrome 2 is_obsolete: true [Term] id: DOID:0080467 name: developmental and epileptic encephalopathy 2 def: "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15492925, url:https\://www.ncbi.nlm.nih.gov/pubmed/22872100] synonym: "DEE2" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 2" EXACT [] synonym: "EIEE2" EXACT OMO:0003012 [] synonym: "X-linked infantile spasm syndrome 2" EXACT [] xref: MIM:300672 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080468 name: developmental and epileptic encephalopathy 1 def: "A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21." [url:https\://pubmed.ncbi.nlm.nih.gov/17668384/, url:https\://www.ncbi.nlm.nih.gov/pubmed/11889467] synonym: "DEE1" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 1" EXACT [] synonym: "X-linked infantile spasm syndrome 1" EXACT [] xref: MIM:308350 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080469 name: obsolete congenital disorder of glycosylation type 2m is_obsolete: true [Term] id: DOID:0080470 name: developmental and epileptic encephalopathy 36 def: "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23033978, url:https\://www.ncbi.nlm.nih.gov/pubmed/26138355] subset: DO_rare_slim synonym: "congenital disorder of glycosylation, type Is" EXACT [] synonym: "early infantile epileptic encephalopathy 36" EXACT [] xref: GARD:12401 xref: MIM:300884 xref: ORDO:324422 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080471 name: developmental and epileptic encephalopathy 92 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25124326, url:https\://www.ncbi.nlm.nih.gov/pubmed/29100083] xref: MIM:617829 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080472 name: developmental and epileptic encephalopathy 91 def: "A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28942967] synonym: "infantile or early childhood epileptic encephalopathy 1" EXACT [] xref: MIM:617711 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080473 name: developmental delay and seizures with or without movement abnormalities def: "A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29100083] xref: MIM:617836 is_a: DOID:0050888 ! syndromic intellectual disability [Term] id: DOID:0080474 name: pustular psoriasis 14 def: "A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21848462] subset: DO_rare_slim synonym: "acrodermatitis continua of Hallopeau" EXACT [] synonym: "deficiency of IL-36R antagonist" EXACT [] xref: ICD10CM:L40.1 xref: MIM:614204 xref: ORDO:404546 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0080475 name: psoriasis 2 def: "A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22521418] xref: MIM:602723 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0080476 name: peroxisome biogenesis disorder 1A def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17055079] synonym: "peroxisome biogenesis disorder 1A (Zellweger)" EXACT [] xref: MIM:214100 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080477 name: peroxisome biogenesis disorder 2A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17055079] synonym: "peroxisome biogenesis disorder 2A (Zellweger)" EXACT [] xref: MIM:214110 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080478 name: peroxisome biogenesis disorder 3A def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17055079] synonym: "peroxisome biogenesis disorder 3A (Zellweger)" EXACT [] xref: MIM:614859 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080479 name: peroxisome biogenesis disorder 4A def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17055079] synonym: "peroxisome biogenesis disorder 4A (Zellweger)" EXACT [] xref: MIM:614862 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080480 name: peroxisome biogenesis disorder 5A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17055079] synonym: "peroxisome biogenesis disorder 5A (Zellweger)" EXACT [] xref: MIM:614866 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080481 name: peroxisome biogenesis disorder 6A def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17055079] synonym: "peroxisome biogenesis disorder 6A (Zellweger)" EXACT [] xref: MIM:614870 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080482 name: peroxisome biogenesis disorder 7A def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17055079] synonym: "peroxisome biogenesis disorder 7A (Zellweger)" EXACT [] xref: MIM:614872 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080483 name: peroxisome biogenesis disorder 8A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17055079] synonym: "peroxisome biogenesis disorder 8A (Zellweger)" EXACT [] xref: MIM:614876 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080484 name: peroxisome biogenesis disorder 10A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17055079] synonym: "peroxisome biogenesis disorder 10A (Zellweger)" EXACT [] xref: MIM:614882 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080485 name: peroxisome biogenesis disorder 11A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17055079] synonym: "peroxisome biogenesis disorder 11A (Zellweger)" EXACT [] xref: MIM:614883 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080486 name: peroxisome biogenesis disorder 12A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17055079] synonym: "peroxisome biogenesis disorder 12A (Zellweger)" EXACT [] xref: MIM:614886 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080487 name: peroxisome biogenesis disorder 13A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17055079] synonym: "peroxisome biogenesis disorder 13A (Zellweger)" EXACT [] xref: MIM:614887 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080488 name: mucolipidosis def: "A lipid storage disease that is characterized by increased storage of carbohydrates and lipids." [url:https\://en.wikipedia.org/wiki/Mucolipidosis] is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:0080489 name: GM1 gangliosidosis type 3 def: "A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years." [url:https\://www.ncbi.nlm.nih.gov/pubmed/404231] subset: DO_rare_slim synonym: "adult-onset GM1 gangliosidosis" EXACT [] xref: GARD:2431 xref: MIM:230650 xref: ORDO:79257 is_a: DOID:3322 ! GM1 gangliosidosis [Term] id: DOID:0080490 name: mucolipidosis type IV def: "A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time." [url:https\://en.wikipedia.org/wiki/Mucolipidosis_type_IV, url:https\://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv] subset: DO_rare_slim xref: GARD:94 xref: MIM:252650 xref: ORDO:578 is_a: DOID:0080488 ! mucolipidosis [Term] id: DOID:0080491 name: cerebral cavernous malformation 1 def: "A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21." [url:https\://www.omim.org/entry/116860?search=116860&highlight=116860] xref: MIM:116860 is_a: DOID:0060669 ! cerebral cavernous malformation [Term] id: DOID:0080492 name: leukocyte adhesion deficiency 2 def: "A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit." [url:https\://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/, url:https\://www.ncbi.nlm.nih.gov/books/NBK539770/] subset: DO_rare_slim xref: ORDO:99843 is_a: DOID:6612 ! leukocyte adhesion deficiency [Term] id: DOID:0080493 name: ovarian dysgenesis 1 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16." [url:https\://www.omim.org/entry/233300] xref: MIM:233300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080494 name: ovarian dysgenesis 2 def: "A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11." [url:https\://www.omim.org/entry/300510] xref: MESH:C564499 xref: MIM:300510 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080495 name: ovarian dysgenesis 3 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21." [url:https\://www.omim.org/entry/614324] xref: MIM:614324 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080496 name: ovarian dysgenesis 4 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22." [url:https\://www.omim.org/entry/616185] xref: MIM:616185 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080497 name: ovarian dysgenesis 5 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34." [url:https\://www.omim.org/entry/617690] xref: MIM:617690 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080498 name: ovarian dysgenesis 6 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15." [url:https\://www.omim.org/entry/618078] xref: MIM:618078 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080499 name: ovarian dysgenesis 7 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23." [url:https\://www.omim.org/entry/618117] xref: MIM:618117 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080500 name: ovarian dysgenesis 8 def: "A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23." [url:https\://www.omim.org/entry/618187] xref: MIM:618187 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080501 name: GM1 gangliosidosis type 2 def: "A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12644936] synonym: "juvenile GM1 gangliosidosis" EXACT [] xref: MIM:230600 is_a: DOID:3322 ! GM1 gangliosidosis [Term] id: DOID:0080502 name: GM1 gangliosidosis type 1 def: "A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death." [url:https\://www.ncbi.nlm.nih.gov/books/NBK164500/] subset: DO_rare_slim xref: GARD:6479 xref: MIM:230500 xref: ORDO:79255 is_a: DOID:3322 ! GM1 gangliosidosis [Term] id: DOID:0080503 name: multiple congenital anomalies-hypotonia-seizures syndrome def: "A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29974678] subset: DO_rare_slim xref: GARD:12781 xref: MIM:PS614080 xref: ORDO:280633 is_a: DOID:0080015 ! physical disorder is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0080504 name: Parkinson's disease 22 def: "A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30496485, url:https\://www.omim.org/entry/616710] synonym: "autosomal dominant Parkinson's disease 22" EXACT [] xref: MIM:616710 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0080505 name: Cornelia de Lange syndrome 1 def: "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20583156] xref: MIM:122470 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0080506 name: Cornelia de Lange syndrome 2 def: "A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22106055] xref: MIM:300590 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0080507 name: Cornelia de Lange syndrome 3 def: "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25655089] synonym: "CDLS3" EXACT OMO:0003012 [] synonym: "Cornelia De Lange syndrome 3 with or without midline brain defects" EXACT [] xref: MIM:610759 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0080508 name: Cornelia de Lange syndrome 4 def: "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22633399] synonym: "CDLS4" EXACT OMO:0003012 [] synonym: "Cornelia De Lange syndrome 4 with or without midline brain defects" EXACT [] xref: MIM:614701 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0080509 name: Cornelia de Lange syndrome 5 def: "A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22889856] xref: MIM:300882 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0080510 name: epidermolysis bullosa simplex localized type def: "An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet." [url:https\://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources] synonym: "epidermolysis bullosa simplex Weber-Cockayne type" EXACT [] xref: MIM:131800 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:0080511 name: epidermolysis bullosa simplex generalized type def: "An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy." [url:https\://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources] synonym: "epidermolysis bullosa simplex Koebner type" EXACT [] xref: MIM:131900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:0080512 name: Meier-Gorlin syndrome 1 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32." [url:https\://www.omim.org/entry/224690] xref: MIM:224690 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080513 name: Meier-Gorlin syndrome 2 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23." [url:https\://www.omim.org/entry/613800] xref: MIM:613800 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080514 name: Meier-Gorlin syndrome 3 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11." [url:https\://pubmed.ncbi.nlm.nih.gov/37059840/] xref: MIM:613803 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080515 name: Meier-Gorlin syndrome 4 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24." [url:https\://pubmed.ncbi.nlm.nih.gov/21358631/] xref: MIM:613804 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080516 name: Meier-Gorlin syndrome 5 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous mutation in the CDC6 gene on chromosome 17q21." [url:https\://pubmed.ncbi.nlm.nih.gov/11477602/] xref: MIM:613805 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080517 name: Meier-Gorlin syndrome 6 def: "A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22." [url:https\://pubmed.ncbi.nlm.nih.gov/26637980/] xref: MIM:616835 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080518 name: Meier-Gorlin syndrome 7 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11." [url:https\://pubmed.ncbi.nlm.nih.gov/27374770/] xref: MIM:617063 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080519 name: PAPA syndrome def: "A syndrome that is characterized by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24." [url:https\://en.wikipedia.org/wiki/PAPA_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/28236224, url:https\://www.ncbi.nlm.nih.gov/pubmed/28251506, url:https\://www.nomidalliance.org/papa.php] subset: DO_rare_slim synonym: "pyogenic arthritis, pyoderma gangrenosum and acne" EXACT [] xref: MIM:604416 xref: ORDO:69126 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080520 name: Tn polyagglutination syndrome def: "A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16251947] synonym: "galactosyltransferase deficiency" EXACT [] xref: MIM:300622 is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:0080521 name: lung non-squamous non-small cell carcinoma def: "A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30362335] subset: NCIthesaurus synonym: "non- squamous NSCLC" EXACT [] xref: NCI:C135017 is_a: DOID:3908 ! lung non-small cell carcinoma [Term] id: DOID:0080522 name: anaplastic thyroid carcinoma def: "A thyroid gland carcinoma that is composed of undifferentiated cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28707679] subset: DO_cancer_slim subset: NCIthesaurus synonym: "thyroid gland anaplastic carcinoma" EXACT [] xref: NCI:C3878 is_a: DOID:3963 ! thyroid gland carcinoma [Term] id: DOID:0080523 name: adult-onset leukoencephalopathy with axonal spheroids and pigmented glia def: "A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27680516, url:https\://www.ncbi.nlm.nih.gov/pubmed/28921817] subset: DO_rare_slim synonym: "hereditary diffuse leukoencephalopathy with spheroids" EXACT [] xref: GARD:10981 xref: MIM:221820 xref: ORDO:313808 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10579 ! leukodystrophy [Term] id: DOID:0080524 name: thyroid gland adenocarcinoma def: "A thyroid gland carcinoma that derives_from epithelial cells of glandular origin." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27380] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C27380 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3963 ! thyroid gland carcinoma [Term] id: DOID:0080525 name: differentiated high-grade thyroid carcinoma def: "A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7153&ns=ncit] subset: DO_cancer_slim subset: NCIthesaurus synonym: "differentiated thyroid gland carcinoma" EXACT [] xref: NCI:C7153 is_a: DOID:0080524 ! thyroid gland adenocarcinoma [Term] id: DOID:0080526 name: bronchiectasis 1 def: "A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12." [url:https\://www.omim.org/entry/211400] xref: MIM:211400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9563 ! bronchiectasis [Term] id: DOID:0080527 name: bronchiectasis 2 def: "A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel." [url:https\://pubmed.ncbi.nlm.nih.gov/19462466/] xref: MIM:613021 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9563 ! bronchiectasis [Term] id: DOID:0080528 name: bronchiectasis 3 def: "A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel." [url:https\://pubmed.ncbi.nlm.nih.gov/18507830/] xref: MIM:613071 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9563 ! bronchiectasis [Term] id: DOID:0080530 name: granular corneal dystrophy 1 def: "A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface." [url:https\://pubmed.ncbi.nlm.nih.gov/8136834/] synonym: "corneal dystrophy, Groenouw type I" EXACT [] xref: MIM:121900 is_a: DOID:12318 ! granular corneal dystrophy [Term] id: DOID:0080531 name: dedifferentiated liposarcoma def: "A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211889/, url:https\://www.ncbi.nlm.nih.gov/pubmed/26645460] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: ICDO:8858/3 xref: NCI:C3704 xref: ORDO:99970 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:0080532 name: Smarca4-deficient sarcoma of thorax def: "A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex)." [url:https\://ghr.nlm.nih.gov/gene/SMARCA4#conditions, url:https\://www.nature.com/articles/modpathol201761.pdf?origin=ppub, url:https\://www.ncbi.nlm.nih.gov/pubmed/26343384] subset: DO_rare_slim synonym: "SMARCA4-DTS" EXACT OMO:0003012 [] xref: ORDO:466962 is_a: DOID:5093 ! thoracic cancer [Term] id: DOID:0080533 name: Carney-Stratakis syndrome def: "A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors." [url:https\://rarediseases.info.nih.gov/diseases/10643/index, url:https\://www.ncbi.nlm.nih.gov/pubmed/31174229] subset: DO_rare_slim xref: GARD:10643 xref: MESH:C564650 xref: MIM:606864 xref: ORDO:97286 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080534 name: myxofibrosarcoma def: "A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma." [url:https\://www.mayoclinic.org/diseases-conditions/myxofibrosarcoma/cdc-20387740, url:https\://www.ncbi.nlm.nih.gov/pubmed/27591498] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "fibromyxoid sarcoma" EXACT [] xref: ICDO:8811/3 xref: NCI:C6496 xref: ORDO:79105 is_a: DOID:1115 ! sarcoma [Term] id: DOID:0080535 name: hypermanganesemia with dystonia def: "A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese." [url:https\://ghr.nlm.nih.gov/condition/hypermanganesemia-with-dystonia#resources] xref: MIM:PS613280 is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0080536 name: hypermanganesemia with dystonia 1 def: "A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22341972] xref: MIM:613280 is_a: DOID:0080535 ! hypermanganesemia with dystonia [Term] id: DOID:0080537 name: hypermanganesemia with dystonia 2 def: "A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27231142] xref: MIM:617013 is_a: DOID:0080535 ! hypermanganesemia with dystonia [Term] id: DOID:0080538 name: Sweeney-Cox syndrome def: "A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28369379] xref: MIM:617746 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080539 name: PEHO syndrome def: "A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss." [url:https\://en.wikipedia.org/wiki/PEHO_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/28335020, url:https\://www.ncbi.nlm.nih.gov/pubmed/30385166, url:https\://www.ncbi.nlm.nih.gov/pubmed/31048081] subset: DO_rare_slim xref: GARD:4264 xref: MESH:C536317 xref: MIM:260565 xref: ORDO:2836 is_a: DOID:936 ! brain disease [Term] id: DOID:0080540 name: galactosialidosis def: "A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13." [url:https\://ghr.nlm.nih.gov/condition/galactosialidosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/28603679] subset: DO_rare_slim xref: GARD:3953 xref: MIM:256540 is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:0080541 name: hyperprolinemia def: "An amno acid metabolic disorder that is characterized by the excess of proline in the blood." [url:https\://en.wikipedia.org/wiki/Hyperprolinemia, url:https\://ghr.nlm.nih.gov/condition/hyperprolinemia] subset: DO_rare_slim xref: GARD:2847 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0080542 name: hyperprolinemia type 1 def: "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11." [url:https\://ghr.nlm.nih.gov/condition/hyperprolinemia] subset: DO_rare_slim synonym: "hyperprolinemia type I" EXACT [] xref: MIM:239500 xref: ORDO:419 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080541 ! hyperprolinemia [Term] id: DOID:0080543 name: hyperprolinemia type 2 def: "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36." [url:https\://ghr.nlm.nih.gov/condition/hyperprolinemia] subset: DO_rare_slim synonym: "hyperprolinemia type II" EXACT [] xref: MESH:C538385 xref: MIM:239510 xref: ORDO:79101 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080541 ! hyperprolinemia [Term] id: DOID:0080544 name: hyper IgM syndrome def: "A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM." [url:https\://rarediseases.org/rare-diseases/hyper-igm-syndrome/, url:https\://www.niaid.nih.gov/diseases-conditions/types-pidds] subset: NCIthesaurus synonym: "HIGM" EXACT OMO:0003012 [] synonym: "hyperimmunoglobulin M syndrome" EXACT [] synonym: "immunodeficiency with hyper-IgM" EXACT [] xref: ICD10CM:D80.5 xref: MESH:D053306 xref: MIM:PS308230 xref: NCI:C3990 xref: UMLS_CUI:C0272236 is_a: DOID:2959 ! hyperimmunoglobulin syndrome property_value: exactMatch "ICD10CM:D80.5" xsd:string property_value: exactMatch "MESH:D053306" xsd:string property_value: exactMatch "MIM:PS308230" xsd:string property_value: exactMatch "NCI:C3990" xsd:string property_value: exactMatch "UMLS_CUI:C0272236" xsd:string [Term] id: DOID:0080545 name: hyper IgE syndrome def: "A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs." [url:https\://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome#synonyms] subset: DO_rare_slim synonym: "hyper immunoglobulin E syndrome" EXACT [] xref: GARD:10956 xref: MIM:PS147060 is_a: DOID:2959 ! hyperimmunoglobulin syndrome [Term] id: DOID:0080546 name: non-alcoholic fatty liver def: "A metabolic dysfunction-associated steatotic liver disease characterized by the absence of inflammation and hepatocyte injury in the form of hepatocyte ballooning." [url:https\://en.wikipedia.org/wiki/Non-alcoholic_fatty_liver_disease, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881593/] comment: NAFL was not addressed in the 2023 international update that revised the nomenclature and definition of NAFLD/MASLD and NASH/MASH. Generally considered a subtype of NAFLD, it is unclear if NAFL should continue to be considered a distinct disease in clinical practice. Use care when annotating data to this disease. It may be deprecated and merged into MASLD in the future (2023-11-29, JAB). synonym: "NAFL" EXACT OMO:0003012 [] synonym: "nonalcoholic fatty liver" EXACT [] is_a: DOID:0080208 ! metabolic dysfunction-associated steatotic liver disease [Term] id: DOID:0080547 name: metabolic dysfunction-associated steatohepatitis def: "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis." [url:https\://en.wikipedia.org/wiki/Non-alcoholic_fatty_liver_disease, url:https\://pubmed.ncbi.nlm.nih.gov/37364816/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881593/, url:https\://www.niddk.nih.gov/health-information/liver-disease/nafld-nash] synonym: "MASH" EXACT OMO:0003012 [] synonym: "NASH" EXACT OMO:0003012 [] synonym: "non-alcoholic steatohepatitis" EXACT [] synonym: "nonalcoholic steatohepatitis" EXACT [] is_a: DOID:0080208 ! metabolic dysfunction-associated steatotic liver disease [Term] id: DOID:0080548 name: Noonan syndrome with multiple lentigines 1 def: "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24." [url:https\://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#genes] synonym: "LEOPARD syndrome 1" EXACT [] xref: MIM:151100 is_a: DOID:14291 ! Noonan syndrome with multiple lentigines [Term] id: DOID:0080549 name: Noonan syndrome with multiple lentigines 2 def: "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25." [url:https\://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance, url:https\://www.ncbi.nlm.nih.gov/pubmed/17603483] synonym: "LEOPARD syndrome 2" EXACT [] xref: MESH:C537117 xref: MIM:611554 is_a: DOID:14291 ! Noonan syndrome with multiple lentigines [Term] id: DOID:0080550 name: Noonan syndrome with multiple lentigines 3 def: "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34." [url:https\://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance] synonym: "LEOPARD syndrome 3" EXACT [] xref: MIM:613707 is_a: DOID:14291 ! Noonan syndrome with multiple lentigines [Term] id: DOID:0080551 name: Naxos disease def: "A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21." [url:https\://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair#genes, url:https\://rarediseases.info.nih.gov/diseases/9795/disease, url:https\://www.ncbi.nlm.nih.gov/pubmed/29747658] subset: DO_rare_slim xref: GARD:9795 xref: MESH:C538346 xref: MIM:601214 xref: ORDO:34217 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma [Term] id: DOID:0080552 name: congenital disorder of glycosylation Ia def: "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13." [url:https\://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1a" EXACT [] synonym: "PMM2-congenital disorder of glycosylation" EXACT [] xref: GARD:9826 xref: MIM:212065 xref: ORDO:79318 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080553 name: congenital disorder of glycosylation Iaa def: "A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25066056] synonym: "congenital disorder of glycosylation 1aa" EXACT [] xref: MIM:617082 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080554 name: congenital disorder of glycosylation Ib def: "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24." [url:https\://www.omim.org/entry/602579] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1b" EXACT [] xref: GARD:9830 xref: MIM:602579 xref: ORDO:79319 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080555 name: congenital disorder of glycosylation Ic def: "A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31." [url:https\://ghr.nlm.nih.gov/condition/alg6-congenital-disorder-of-glycosylation, url:https\://www.ncbi.nlm.nih.gov/pubmed/16007612] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1c" EXACT [] xref: GARD:9829 xref: MIM:603147 xref: ORDO:79320 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080556 name: congenital disorder of glycosylation Id def: "A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28108845] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1d" EXACT [] xref: GARD:9827 xref: MIM:601110 xref: ORDO:79321 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080557 name: congenital disorder of glycosylation Ie def: "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23856421] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1e" EXACT [] xref: GARD:9831 xref: MIM:608799 xref: ORDO:79322 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080558 name: congenital disorder of glycosylation If def: "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11733556] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1f" EXACT [] xref: GARD:9832 xref: MIM:609180 xref: ORDO:79323 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080559 name: congenital disorder of glycosylation Ig def: "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13." [url:https\://ghr.nlm.nih.gov/condition/alg12-congenital-disorder-of-glycosylation, url:https\://www.ncbi.nlm.nih.gov/pubmed/17506107] subset: DO_rare_slim synonym: "ALG12-congenital disorder of glycosylation" EXACT [] synonym: "congenital disorder of glycosylation 1g" EXACT [] xref: GARD:9833 xref: MIM:607143 xref: ORDO:79324 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080560 name: congenital disorder of glycosylation Ih def: "A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28108845] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1h" EXACT [] xref: GARD:9834 xref: MIM:608104 xref: ORDO:79325 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080561 name: congenital disorder of glycosylation Ii def: "A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12684507] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1i" EXACT [] xref: GARD:9836 xref: MIM:607906 xref: ORDO:79326 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080562 name: congenital disorder of glycosylation Ij def: "A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12872255] subset: DO_rare_slim synonym: "Congenital disorder of glycosylation 1j" EXACT [] xref: GARD:9837 xref: MIM:608093 xref: ORDO:86309 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080563 name: congenital disorder of glycosylation Ik def: "A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13." [url:https\://ghr.nlm.nih.gov/condition/alg1-congenital-disorder-of-glycosylation, url:https\://www.ncbi.nlm.nih.gov/pubmed/28108845] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1k" EXACT [] xref: GARD:9838 xref: MIM:608540 xref: ORDO:79327 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080564 name: congenital disorder of glycosylation Il def: "A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26453364] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1l" EXACT [] xref: GARD:9839 xref: MIM:608776 xref: ORDO:79328 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080565 name: congenital disorder of glycosylation Im def: "A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34." [url:https\://ghr.nlm.nih.gov/condition/dolk-congenital-disorder-of-glycosylation, url:https\://www.ncbi.nlm.nih.gov/pubmed/17273964] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1m" EXACT [] synonym: "dolichol kinase deficiency" EXACT [] synonym: "DOLK-congenital disorder of glycosylation" EXACT [] xref: GARD:12393 xref: MIM:610768 xref: ORDO:91131 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080566 name: congenital disorder of glycosylation In def: "A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23111317] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1n" EXACT [] xref: GARD:12394 xref: MIM:612015 xref: ORDO:244310 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080567 name: congenital disorder of glycosylation Ip def: "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22213132] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1p" EXACT [] xref: GARD:12396 xref: MIM:613661 xref: ORDO:280071 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080568 name: congenital disorder of glycosylation Iq def: "A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20637498] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1q" EXACT [] xref: GARD:12397 xref: MIM:612379 xref: ORDO:324737 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080569 name: congenital disorder of glycosylation Ir def: "A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22305527] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1r" EXACT [] xref: GARD:12398 xref: MIM:614507 xref: ORDO:300536 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080570 name: congenital disorder of glycosylation It def: "A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24499211] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1t" EXACT [] xref: MIM:614921 xref: ORDO:319646 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080571 name: congenital disorder of glycosylation Iu def: "A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23109149] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1u" EXACT [] xref: GARD:12416 xref: MIM:615042 xref: ORDO:329178 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080572 name: congenital disorder of glycosylation Iw def: "A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23842455] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1w" EXACT [] xref: MIM:615596 xref: ORDO:370921 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080573 name: congenital disorder of glycosylation Ix def: "A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23842455] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1x" EXACT [] xref: MIM:615597 xref: ORDO:370924 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080574 name: congenital disorder of glycosylation Iy def: "A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26264460] subset: DO_rare_slim synonym: "congenital disorder of glycosylation 1y" EXACT [] xref: GARD:12405 xref: MIM:300934 xref: ORDO:370927 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0080575 name: Larsen-like syndrome B3GAT3 type def: "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12." [url:https\://www.ncbi.nlm.nih.gov/articles/PMC4654953/, url:https\://www.ncbi.nlm.nih.gov/pubmed/25893793] subset: DO_rare_slim synonym: "Larsen-like syndrome, B3GAT3 type" EXACT [] synonym: "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" EXACT [] xref: MIM:245600 xref: ORDO:284139 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080576 name: spondyloepimetaphyseal dysplasia, Genevieve-type def: "A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27213289] subset: DO_rare_slim xref: GARD:10057 xref: MESH:C535785 xref: MIM:610442 xref: ORDO:168454 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:0080577 name: polygenic disease def: "A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci." [url:https\://www.ncbi.nlm.nih.gov/books/NBK5191/#IX-P] subset: DO_AGR_slim subset: DO_GXD_slim subset: DO_MGI_slim is_a: DOID:630 ! genetic disease [Term] id: DOID:0080578 name: digenic disease def: "A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes." [url:https\://www.ncbi.nlm.nih.gov/books/NBK5191/#IX-P, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778050/, url:https\://www.ncbi.nlm.nih.gov/pubmed/28977688] is_a: DOID:0080577 ! polygenic disease [Term] id: DOID:0080579 name: 3-methylcrotonyl-CoA carboxylase 1 deficiency def: "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27." [url:https\://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency] xref: MESH:C535308 xref: MIM:210200 is_a: DOID:0050710 ! 3-methylcrotonyl-CoA carboxylase deficiency [Term] id: DOID:0080580 name: 3-methylcrotonyl-CoA carboxylase 2 deficiency def: "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13." [url:https\://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency] xref: MESH:C535309 xref: MIM:210210 is_a: DOID:0050710 ! 3-methylcrotonyl-CoA carboxylase deficiency [Term] id: DOID:0080581 name: hyperekplexia 4 def: "A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29390050] xref: MIM:618011 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060695 ! hyperekplexia property_value: exactMatch "MIM:618011" xsd:string [Term] id: DOID:0080582 name: hypotrichosis 14 def: "A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30401459] xref: MIM:618275 is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0080583 name: Wolfram syndrome, mitochondrial form def: "A Wolfram syndrome that has_material_basis_in mutation in mtDNA." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8383698] synonym: "diabetes mellitus AND insipidus with optic atrophy AND deafness mitochondrial form" EXACT [] synonym: "DIDMOAD, mitochondrial form" EXACT [] xref: MESH:C564012 xref: MIM:598500 is_a: DOID:10632 ! Wolfram syndrome [Term] id: DOID:0080584 name: autosomal dominant Wolfram syndrome def: "A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18544103] xref: MIM:614296 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10632 ! Wolfram syndrome [Term] id: DOID:0080585 name: Van Maldergem syndrome 1 def: "A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24056717] xref: MIM:601390 is_a: DOID:0060238 ! Van Maldergem syndrome [Term] id: DOID:0080586 name: Van Maldergem syndrome 2 def: "A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24056717] xref: MIM:615546 is_a: DOID:0060238 ! Van Maldergem syndrome [Term] id: DOID:0080587 name: congenital myasthenic syndrome 22 def: "A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28726805] xref: MIM:616224 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0080588 name: agammaglobulinemia 5 def: "An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14660746] xref: MIM:613506 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0080589 name: Klippel-Feil syndrome 1 def: "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18425797] xref: MIM:118100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10426 ! Klippel-Feil syndrome [Term] id: DOID:0080590 name: Klippel-Feil syndrome 2 def: "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23290072] xref: MIM:214300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10426 ! Klippel-Feil syndrome [Term] id: DOID:0080591 name: Klippel-Feil syndrome 3 def: "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19864492] xref: MIM:613702 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10426 ! Klippel-Feil syndrome [Term] id: DOID:0080592 name: Klippel-Feil syndrome 4 def: "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25748484] subset: DO_rare_slim xref: MIM:616549 xref: ORDO:447974 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10426 ! Klippel-Feil syndrome [Term] id: DOID:0080593 name: orofacial cleft 6 def: "An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17702008] xref: MIM:608864 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080594 name: hyper IgE recurrent infection syndrome 2 def: "A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24." [url:https\://ghr.nlm.nih.gov/condition/dock8-immunodeficiency-syndrome#synonyms, url:https\://www.ncbi.nlm.nih.gov/pubmed/19776401] subset: DO_rare_slim xref: GARD:2816 xref: MIM:243700 xref: ORDO:217390 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080545 ! hyper IgE syndrome [Term] id: DOID:0080595 name: hyper IgE recurrent infection syndrome 3 def: "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29907690] xref: MIM:618282 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080545 ! hyper IgE syndrome [Term] id: DOID:0080596 name: hyper IgE recurrent infection syndrome 4 def: "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28747427] xref: MIM:618523 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080545 ! hyper IgE syndrome [Term] id: DOID:0080597 name: Kleefstra syndrome def: "A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone." [url:http\://ghr.nlm.nih.gov/condition/kleefstra-syndrome] subset: DO_FlyBase_slim xref: MIM:PS610253 is_a: DOID:225 ! syndrome [Term] id: DOID:0080598 name: Kleefstra syndrome 2 def: "A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29069077] subset: DO_rare_slim xref: MIM:617768 xref: ORDO:261652 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080597 ! Kleefstra syndrome [Term] id: DOID:0080599 name: Coronavirus infectious disease def: "A viral infectious disease that has_material_basis_in Coronavirus." [url:https\://www.cdc.gov/coronavirus/, url:https\://www.ncbi.nlm.nih.gov/books/NBK7782/, url:https\://www.who.int/health-topics/coronavirus] subset: DO_infectious_disease_slim is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0080600 name: COVID-19 def: "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2." [url:https\://www.cdc.gov/coronavirus/2019-ncov/about/index.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=32007143, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=32007145, url:https\://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=2697049, url:https\://www.who.int/emergencies/diseases/novel-coronavirus-2019] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "2019 Novel Coronavirus (2019-nCoV)" EXACT [] synonym: "2019-nCoV infection" EXACT [] synonym: "COVID19" EXACT OMO:0003012 [] synonym: "SARS-CoV-2 infection" EXACT [] synonym: "Wuhan coronavirus infection" EXACT [] synonym: "Wuhan seafood market pneumonia virus infection" EXACT [] xref: ICD10CM:U07.1 xref: MESH:D000086382 xref: NCI:C171133 xref: SNOMEDCT_US_2023_03_01:840539006 xref: UMLS_CUI:C5203670 is_a: DOID:0080599 ! Coronavirus infectious disease [Term] id: DOID:0080601 name: germ cell benign neoplasm def: "A benign neoplasm that derives_from germ cells." [url:https\://en.wikipedia.org/wiki/Germ_cell_tumor] is_a: DOID:0060084 ! cell type benign neoplasm [Term] id: DOID:0080602 name: benign teratoma def: "A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C67107&ns=ncit] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9080/1 xref: NCI:C67107 is_a: DOID:0080601 ! germ cell benign neoplasm [Term] id: DOID:0080603 name: ankylosing spondylitis 1 def: "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6332689] xref: MIM:106300 is_a: DOID:7147 ! ankylosing spondylitis [Term] id: DOID:0080604 name: ankylosing spondylitis 2 def: "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15234954] xref: MIM:183840 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:7147 ! ankylosing spondylitis [Term] id: DOID:0080605 name: ankylosing spondylitis 3 def: "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19416804] xref: MIM:613238 is_a: DOID:7147 ! ankylosing spondylitis [Term] id: DOID:0080606 name: anterior segment dysgenesis 1 def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27839872] xref: MIM:107250 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060648 ! anterior segment dysgenesis [Term] id: DOID:0080607 name: anterior segment dysgenesis 2 def: "An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21150893] xref: MIM:610256 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060648 ! anterior segment dysgenesis [Term] id: DOID:0080608 name: anterior segment dysgenesis 3 def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27839872] xref: MIM:601631 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060648 ! anterior segment dysgenesis [Term] id: DOID:0080609 name: anterior segment dysgenesis 4 def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27839872] xref: MIM:137600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060648 ! anterior segment dysgenesis [Term] id: DOID:0080610 name: anterior segment dysgenesis 5 def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27839872] xref: MIM:604229 is_a: DOID:0060648 ! anterior segment dysgenesis [Term] id: DOID:0080611 name: anterior segment dysgenesis 6 def: "An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27839872] xref: MIM:617315 is_a: DOID:0060648 ! anterior segment dysgenesis [Term] id: DOID:0080612 name: anterior segment dysgenesis 7 def: "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27839872] xref: MIM:269400 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060648 ! anterior segment dysgenesis [Term] id: DOID:0080613 name: anterior segment dysgenesis 8 def: "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27839872] xref: MIM:617319 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060648 ! anterior segment dysgenesis [Term] id: DOID:0080614 name: oculocutaneous albinism type VI def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1." [url:https\://www.omim.org/entry/203100?search=albinism%20type%20ia&highlight=albinism%20ia%20type] xref: MIM:113750 is_a: DOID:0050632 ! oculocutaneous albinism [Term] id: DOID:0080615 name: nephroma def: "A kidney benign neoplasm that is located_in the kidney cortex." [url:https\://www.stjude.org/disease/nephroma.html] synonym: "benign nephroma" EXACT [] is_a: DOID:0080616 ! kidney cortex disease is_a: DOID:3116 ! kidney benign neoplasm [Term] id: DOID:0080616 name: kidney cortex disease def: "A kidney disease that is located_in the kidney cortex." [url:https\://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/blood-vessel-disorders-of-the-kidneys/cortical-necrosis-of-the-kidneys] is_a: DOID:557 ! kidney disease [Term] id: DOID:0080617 name: lymph node benign neoplasm def: "An immune system organ benign neoplasm that is located_in the lymph nodes." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C3636&key=n1052416749&b=1&n=null] subset: NCIthesaurus xref: NCI:C3636 xref: SNOMEDCT_US_2021_09_01:92197001 is_a: DOID:0060092 ! immune system organ benign neoplasm is_a: DOID:9942 ! lymph node disease [Term] id: DOID:0080618 name: lymph node carcinoma def: "A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:https\://medlineplus.gov/ency/patientinstructions/000824.htm, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5829610/] is_a: DOID:10619 ! lymph node cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:0080619 name: auditory system benign neoplasm def: "A sensory system benign neoplasm that is located in the auditory system." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C8417&key=n1512346313&b=1&n=null] subset: NCIthesaurus xref: NCI:C8417 is_a: DOID:0060096 ! sensory organ benign neoplasm is_a: DOID:2742 ! auditory system disease [Term] id: DOID:0080620 name: familial glucocorticoid deficiency def: "An adrenal cortex disease that is characterized by insufficient production of glucocorticoids." [url:https\://ghr.nlm.nih.gov/condition/familial-glucocorticoid-deficiency] xref: MIM:PS202200 is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:0080621 name: glucocorticoid deficiency 1 def: "A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19500760] xref: MIM:202200 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080620 ! familial glucocorticoid deficiency [Term] id: DOID:0080622 name: peroxisome biogenesis disorder 2B def: "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22871920] xref: MIM:202370 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0080623 name: Heimler syndrome 1 def: "A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26387595] synonym: "Deafness-enamel hypoplasia-nail defects syndrome" BROAD [] synonym: "peroxisomal biogenesis disorder 1C" EXACT [] xref: MIM:234580 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0080624 name: Heimler syndrome 2 def: "A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16530715] synonym: "peroxisomal biogenesis disorder 4C" EXACT [] xref: MIM:616617 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0080625 name: severe congenital neutropenia 1 def: "A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17133096] xref: MIM:202700 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080626 name: corticosterone methyloxidase deficiency 1 def: "An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life." [url:https\://ghr.nlm.nih.gov/condition/corticosterone-methyloxidase-deficiency] subset: DO_rare_slim synonym: "aldosterone synthase deficiency" EXACT [] xref: MIM:203400 xref: ORDO:427 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:0080627 name: alopecia-mental retardation syndrome def: "A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17451405] subset: DO_rare_slim xref: GARD:612 xref: MIM:PS203650 xref: ORDO:2850 is_a: DOID:225 ! syndrome [Term] id: DOID:0080628 name: alopecia-mental retardation syndrome 1 def: "An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28054173] xref: MIM:203650 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080627 ! alopecia-mental retardation syndrome [Term] id: DOID:0080629 name: alopecia-mental retardation syndrome 2 def: "An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16922726] xref: MESH:C563668 xref: MIM:610422 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080627 ! alopecia-mental retardation syndrome [Term] id: DOID:0080630 name: B-lymphoblastic leukemia/lymphoma alt_id: DOID:7061 def: "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow." [url:https\://en.wikipedia.org/wiki/Precursor_B-cell_lymphoblastic_leukemia] subset: DO_cancer_slim subset: NCIthesaurus synonym: "B lymphoblastic leukemia/lymphoma" EXACT [] synonym: "B-ALL" EXACT OMO:0003012 [] synonym: "precursor B lymphoblastic lymphoma/leukemia" EXACT [] xref: ICDO:9836/3 xref: NCI:C8936 xref: SNOMEDCT_US_2023_03_01:1162660006 xref: UMLS_CUI:C0862030 is_a: DOID:0080638 ! B-cell acute lymphoblastic leukemia [Term] id: DOID:0080631 name: Elsahy-Waters syndrome def: "A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20949527] subset: DO_rare_slim synonym: "branchioskeletogenital syndrome" EXACT [] xref: GARD:955 xref: MIM:211380 xref: ORDO:1299 is_a: DOID:225 ! syndrome [Term] id: DOID:0080632 name: Fazio-Londe disease def: "A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13." [url:https\://www.ncbi.nlm.nih.gov/books/NBK299312/] synonym: "riboflavin transporter deficiency neuronopathy" EXACT [] xref: MIM:211500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:681 ! progressive bulbar palsy [Term] id: DOID:0080633 name: developmental cardiac valvular defect def: "A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29581714] xref: MIM:212093 is_a: DOID:0080015 ! physical disorder [Term] id: DOID:0080634 name: nanophthalmos def: "A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma." [url:https\://eyewiki.aao.org/Nanophthalmos] subset: DO_rare_slim xref: MIM:600165 xref: MIM:609549 xref: MIM:611897 xref: MIM:615972 xref: MIM:PS600165 xref: ORDO:35612 is_a: DOID:10629 ! microphthalmia [Term] id: DOID:0080635 name: optic disc anomalies with retinal and/or macular dystrophy def: "A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24702266] xref: MIM:212550 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10629 ! microphthalmia [Term] id: DOID:0080636 name: syndromic microphthalmia def: "A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body." [url:https\://ghr.nlm.nih.gov/condition/microphthalmia] xref: MIM:PS309800 is_a: DOID:10629 ! microphthalmia [Term] id: DOID:0080637 name: isolated microphthalmia def: "A microphthalmia that occurs by itself." [url:https\://ghr.nlm.nih.gov/condition/microphthalmia] is_a: DOID:10629 ! microphthalmia [Term] id: DOID:0080638 name: B-cell acute lymphoblastic leukemia def: "An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/b-cell-acute-lymphoblastic-leukemia] subset: DO_cancer_slim subset: NCIthesaurus synonym: "B acute lymphoblastic leukemia" EXACT [] synonym: "B-cell acute lymphocytic leukemia" EXACT [] xref: NCI:C8644 is_a: DOID:0060058 ! lymphoma is_a: DOID:9952 ! acute lymphoblastic leukemia [Term] id: DOID:0080639 name: bone sarcoma def: "A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805807] is_a: DOID:184 ! bone cancer [Term] id: DOID:0080640 name: gallbladder benign neoplasm def: "A biliary tract benign neoplasm that is located_in the gallbladder." [url:https\://link.springer.com/chapter/10.1007/978-3-319-12985-3_15] subset: NCIthesaurus xref: NCI:C4440 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:0060262 ! gallbladder disease [Term] id: DOID:0080641 name: tongue carcinoma def: "A tongue cancer that derives_from epithelial cells that cover the surface of the tongue." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C4824&key=1996231099&b=1&n=null] is_a: DOID:305 ! carcinoma is_a: DOID:8649 ! tongue cancer [Term] id: DOID:0080642 name: Middle East respiratory syndrome def: "A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in MERS-CoV." [url:https\://en.wikipedia.org/wiki/Middle_East_respiratory_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/23891402/, url:https\://pubmed.ncbi.nlm.nih.gov/29495250, url:https\://www.cdc.gov/coronavirus/mers/index.html, url:https\://www.who.int/news-room/q-a-detail/middle-east-respiratory-syndrome-coronavirus-(mers-cov)] subset: DO_infectious_disease_slim is_a: DOID:0080599 ! Coronavirus infectious disease [Term] id: DOID:0080643 name: B-lymphoblastic leukemia/lymphoma with BCR-ABL1 def: "A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80331] subset: DO_cancer_slim subset: NCIthesaurus synonym: "B-ALL with BCR-ABL1" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2);BCR-ABL1" EXACT [] xref: ICDO:9812/3 xref: NCI:C80331 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080644 name: B-lymphoblastic leukemia/lymphoma MLL rearranged def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80342] subset: DO_cancer_slim subset: NCIthesaurus synonym: "B lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged" EXACT [] synonym: "B-ALL KMT2A rearranged" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma KMT2A rearranged" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged" EXACT [] xref: ICDO:9813/3 xref: NCI:C80342 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080645 name: B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80343] subset: DO_cancer_slim subset: NCIthesaurus synonym: "B-ALL with ETV6-RUNX1" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1" EXACT [] xref: ICDO:9814/3 xref: NCI:C80343 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080646 name: B-lymphoblastic leukemia/lymphoma with hyperdiploidy def: "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80335] subset: DO_cancer_slim subset: NCIthesaurus synonym: "B-ALL with hyperdiploidy" EXACT [] xref: ICDO:9815/3 xref: NCI:C80335 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080647 name: B-lymphoblastic leukemia/lymphoma with hypodiploidy def: "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80338] subset: DO_cancer_slim subset: NCIthesaurus synonym: "B-ALL with hypodiploidy" EXACT [] xref: ICDO:9816/3 xref: NCI:C80338 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080648 name: B-lymphoblastic leukemia/lymphoma with IL3-IGH def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3)." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80346] subset: DO_cancer_slim subset: NCIthesaurus synonym: "B-ALL with IL3-IGH" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH" EXACT [] xref: ICDO:9817/3 xref: NCI:C80346 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080649 name: B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80347] subset: DO_cancer_slim subset: NCIthesaurus synonym: "B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT [] synonym: "B-ALL with TCF3-PBX1" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1" EXACT [] xref: ICDO:9818/3 xref: NCI:C80347 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080650 name: B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like def: "A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31069976] subset: DO_cancer_slim synonym: "B lymphoblastic leukemia/lymphoma, BCR-ABL1-like" EXACT [] synonym: "B-ALL BCR-ABL1–like" EXACT [] xref: ICDO:9819/3 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080651 name: B-lymphoblastic leukemia/lymphoma with iAMP21 def: "A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C130039] subset: DO_cancer_slim subset: NCIthesaurus synonym: "B-ALL with iAMP21" EXACT [] synonym: "Intrachromosomal amplification of chromosome 21 (iAMP21)" EXACT [] xref: NCI:C130039 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080652 name: calcium oxalate nephrolithiasis def: "A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16570061] xref: MIM:167030 is_a: DOID:585 ! nephrolithiasis [Term] id: DOID:0080653 name: urolithiasis def: "A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3126068/] xref: MESH:D052878 is_a: DOID:18 ! urinary system disease [Term] id: DOID:0080654 name: uric acid urolithiasis def: "An urolithiasis in which the composition of the stones is predominantly urate." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC290947/pdf/jcinvest00312-0142.pdf, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512151/, url:https\://www.ncbi.nlm.nih.gov/pubmed/14036165] subset: NCIthesaurus xref: MIM:191700 xref: NCI:C123245 is_a: DOID:0080653 ! urolithiasis [Term] id: DOID:0080655 name: hypophosphatemic nephrolithiasis/osteoporosis def: "A kidney disease that is characterized by formation of renal calcium\nstones or bone demineralization." [url:https\://www.nejm.org/doi/full/10.1056/NEJMoa020028] xref: KEGG:H00888 xref: MIM:PS612286 is_a: DOID:557 ! kidney disease [Term] id: DOID:0080656 name: 45,X/46,XY mixed gonadal dysgenesis def: "A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY." [url:https\://en.wikipedia.org/wiki/45\,X/46\,XY_mosaicism] subset: DO_rare_slim subset: NCIthesaurus xref: NCI:C120199 xref: ORDO:1772 is_a: DOID:14449 ! mixed gonadal dysgenesis [Term] id: DOID:0080661 name: nonsyndromic aplasia cutis congenita def: "A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11." [url:https\://ghr.nlm.nih.gov/condition/nonsyndromic-aplasia-cutis-congenita, url:https\://www.ncbi.nlm.nih.gov/pubmed/9415483] xref: MIM:107600 is_a: DOID:37 ! skin disease [Term] id: DOID:0080662 name: atrial standstill 1 def: "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16176547] subset: DO_rare_slim xref: MIM:108770 xref: ORDO:1344 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10273 ! heart conduction disease [Term] id: DOID:0080663 name: atrial standstill 2 def: "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16176547] xref: MIM:615745 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10273 ! heart conduction disease [Term] id: DOID:0080664 name: diaphyseal medullary stenosis with malignant fibrous histiocytoma def: "An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21." [url:https\://pubmed.ncbi.nlm.nih.gov/8781110, url:https\://www.ncbi.nlm.nih.gov/pubmed/22464254] subset: DO_rare_slim subset: NCIthesaurus synonym: "bone dysplasia-medullary fibrosarcoma syndrome" EXACT [] synonym: "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome" EXACT [] synonym: "Hardcastle syndrome" EXACT [] xref: GARD:10072 xref: MESH:C536169 xref: MIM:112250 xref: NCI:C122660 xref: ORDO:85182 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080665 name: warfarin resistance def: "An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin." [url:https\://ghr.nlm.nih.gov/condition/warfarin-resistance] subset: DO_rare_slim xref: GARD:12721 xref: MIM:122700 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0080666 name: warfarin sensitivity def: "An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin." [url:https\://ghr.nlm.nih.gov/condition/warfarin-sensitivity#inheritance] xref: MESH:C567080 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0080667 name: spinal muscular atrophy type 0 def: "A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles." [url:https\://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=10700538] synonym: "very severe spinal muscular atrophy" EXACT [] is_a: DOID:0060160 ! childhood spinal muscular atrophy [Term] id: DOID:0080669 name: posterior polymorphous corneal dystrophy 4 def: "A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22." [url:https\://pubmed.ncbi.nlm.nih.gov/29499165/] xref: MIM:618031 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy [Term] id: DOID:0080670 name: Meesmann corneal dystrophy 1 def: "A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21." [url:https\://pubmed.ncbi.nlm.nih.gov/22174841/] xref: MIM:122100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060451 ! Meesmann corneal dystrophy [Term] id: DOID:0080671 name: Meesmann corneal dystrophy 2 def: "A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13." [url:https\://pubmed.ncbi.nlm.nih.gov/18806880/] xref: MIM:618767 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060451 ! Meesmann corneal dystrophy [Term] id: DOID:0080672 name: fibrochondrogenesis 1 def: "A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21." [url:https\://pubmed.ncbi.nlm.nih.gov/21035103/] xref: MIM:228520 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060465 ! fibrochondrogenesis [Term] id: DOID:0080673 name: fibrochondrogenesis 2 def: "A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/22246659/] xref: MIM:614524 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060465 ! fibrochondrogenesis [Term] id: DOID:0080674 name: luminal breast carcinoma B def: "A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/] subset: NCIthesaurus synonym: "Luminal B Breast Carcinoma" EXACT [] xref: NCI:C53555 xref: UMLS_CUI:C3642346 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:0080675 name: Stickler syndrome 2 def: "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21." [url:https\://pubmed.ncbi.nlm.nih.gov/15286167/] xref: MIM:604841 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080046 ! Stickler syndrome [Term] id: DOID:0080676 name: Stickler syndrome 1 def: "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13." [url:https\://pubmed.ncbi.nlm.nih.gov/21671392/] subset: DO_rare_slim xref: MIM:108300 xref: ORDO:90653 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080046 ! Stickler syndrome [Term] id: DOID:0080677 name: otospondylomegaepiphyseal dysplasia, autosomal dominant def: "An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/15372529/] xref: MIM:184840 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080678 name: mucolipidosis III gamma def: "A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay." [url:https\://pubmed.ncbi.nlm.nih.gov/10712439/] subset: DO_rare_slim xref: MESH:C565367 xref: MIM:252605 xref: ORDO:423470 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080488 ! mucolipidosis [Term] id: DOID:0080679 name: neuronal intestinal dysplasia type A def: "An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine." [url:https\://pubmed.ncbi.nlm.nih.gov/8882403/] xref: MIM:243180 is_a: DOID:0080072 ! intestinal pseudo-obstruction [Term] id: DOID:0080680 name: neuronal intestinal dysplasia type B def: "An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus." [url:https\://pubmed.ncbi.nlm.nih.gov/8882403/] xref: MIM:601223 is_a: DOID:0080072 ! intestinal pseudo-obstruction [Term] id: DOID:0080681 name: X-linked chronic idiopathic intestinal pseudo-obstruction def: "An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/8644737/] subset: DO_rare_slim xref: GARD:3017 xref: MIM:300048 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080072 ! intestinal pseudo-obstruction [Term] id: DOID:0080682 name: autosomal dominant familial visceral neuropathy def: "An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait." [url:https\://pubmed.ncbi.nlm.nih.gov/16088914/] xref: MIM:609629 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080072 ! intestinal pseudo-obstruction [Term] id: DOID:0080683 name: nonsyndromic congenital nail disorder def: "A nail disease that is characterized by underdevelopment of nails." [url:https\://pubmed.ncbi.nlm.nih.gov/26149975/] xref: MIM:PS161050 is_a: DOID:0080015 ! physical disorder is_a: DOID:4123 ! nail disease [Term] id: DOID:0080684 name: diffuse midline glioma, H3 K27M-mutant def: "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." [url:https\://braintumor.org/wp-content/assets/WHO-Central-Nervous-System-Tumor-Classification.pdf, url:https\://pubmed.ncbi.nlm.nih.gov/31290035/, url:https\://www.frontiersin.org/articles/10.3389/fonc.2019.00031/full] subset: DO_cancer_slim subset: NCIthesaurus synonym: "diffuse intrinsic pontine glioma" EXACT [] xref: ICDO:9385/3 xref: NCI:C129309 is_a: DOID:0080879 ! histone mutated tumor [Term] id: DOID:0080685 name: aortic dissection def: "An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall." [url:https\://www.ncbi.nlm.nih.gov/books/NBK441963/] is_a: DOID:520 ! aortic disease [Term] id: DOID:0080686 name: tubular aggregate myopathy 2 def: "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/] xref: MIM:615883 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:423 ! myopathy property_value: narrowMatch "ORDO:2593" xsd:string [Term] id: DOID:0080687 name: reducing body myopathy 1B def: "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26." [url:https\://pubmed.ncbi.nlm.nih.gov/18952429/] xref: MIM:300718 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:423 ! myopathy [Term] id: DOID:0080688 name: mosaic variegated aneuploidy syndrome def: "A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes." [url:https\://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome] subset: DO_rare_slim xref: GARD:3007 xref: MESH:C536987 xref: MIM:PS257300 xref: ORDO:1052 is_a: DOID:225 ! syndrome [Term] id: DOID:0080689 name: mosaic variegated aneuploidy syndrome 3 def: "A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein." [url:https\://pubmed.ncbi.nlm.nih.gov/28553959/] xref: MIM:617598 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome [Term] id: DOID:0080690 name: RASopathy def: "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction." [url:https\://en.wikipedia.org/wiki/RASopathy, url:https\://www.nature.com/articles/jhg2015114, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115674/] synonym: "RAS/mitogen-activated protein kinase syndrome" EXACT [] is_a: DOID:225 ! syndrome [Term] id: DOID:0080691 name: Noonan syndrome-like disorder with loose anagen hair def: "A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay." [url:https\://rarediseases.info.nih.gov/diseases/10719/disease] subset: DO_rare_slim xref: GARD:10719 xref: ORDO:2701 is_a: DOID:0080690 ! RASopathy [Term] id: DOID:0080692 name: Noonan syndrome-like disorder with loose anagen hair 1 def: "A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25." [url:https\://pubmed.ncbi.nlm.nih.gov/25137548/, url:https\://pubmed.ncbi.nlm.nih.gov/30329053/, url:https\://www.ncbi.nlm.nih.gov/articles/PMC4213265/] xref: MIM:607721 is_a: DOID:0080691 ! Noonan syndrome-like disorder with loose anagen hair [Term] id: DOID:0080693 name: Noonan syndrome-like disorder with loose anagen hair 2 def: "A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23." [url:https\://pubmed.ncbi.nlm.nih.gov/27264673/, url:https\://pubmed.ncbi.nlm.nih.gov/28211982/] xref: MIM:617506 is_a: DOID:0080691 ! Noonan syndrome-like disorder with loose anagen hair [Term] id: DOID:0080694 name: Galloway-Mowat syndrome def: "A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy." [url:https\://en.wikipedia.org/wiki/Galloway_Mowat_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/20083416/, url:https\://www.ncbi.nlm.nih.gov/pubmed/26123727] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:65 xref: MESH:C537548 xref: MIM:PS251300 xref: NCI:C132195 xref: ORDO:2065 xref: SNOMEDCT_US_2023_03_01:721297008 xref: UMLS_CUI:C0795949 is_a: DOID:225 ! syndrome [Term] id: DOID:0080695 name: Burn-McKeown syndrome def: "A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism,\nhearing loss, heart abnormalities, and short stature." [url:https\://ghr.nlm.nih.gov/condition/burn-mckeown-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK373577/] subset: DO_rare_slim synonym: "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome" EXACT [] xref: GARD:10041 xref: MESH:C537411 xref: MIM:608572 xref: ORDO:1200 is_a: DOID:225 ! syndrome [Term] id: DOID:0080696 name: Winchester syndrome def: "A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet." [url:https\://ghr.nlm.nih.gov/condition/winchester-syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/29741626/] subset: DO_rare_slim xref: GARD:7894 xref: MESH:C536709 xref: MIM:277950 is_a: DOID:225 ! syndrome [Term] id: DOID:0080697 name: Opitz GBBB syndrome alt_id: DOID:0050780 def: "A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22." [url:http\://www.genome.jp/dbget-bin/www_bget?ds\:H00583, url:http\://www.ncbi.nlm.nih.gov/books/NBK1327/, url:http\://www.ncbi.nlm.nih.gov/books/NBK1523/, url:https\://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome, url:https\://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/15558842/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1327/] subset: DO_MGI_slim subset: DO_rare_slim synonym: "Opitz G/BBB Syndrome" EXACT [] synonym: "Opitz GBBB syndrome type I" EXACT [] xref: GARD:193 xref: KEGG:H00583 xref: MIM:300000 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080698 name: Teebi hypertelorism syndrome 1 def: "A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/25412741/, url:https\://pubmed.ncbi.nlm.nih.gov/30472488/, url:https\://pubmed.ncbi.nlm.nih.gov/31953237/] subset: DO_rare_slim synonym: "Opitz GBBB syndrome type II" EXACT [] synonym: "SPECC1L-related hypertelorism syndrome" EXACT [] synonym: "Teebi hypertelorism syndrome-1" EXACT [] xref: MIM:145420 xref: ORDO:1519 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081073 ! Teebi hypertelorism syndrome [Term] id: DOID:0080699 name: glutathione synthetase deficiency def: "An amino acid metabolic disorder characterized by the lack of glutathione production." [url:https\://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency, url:https\://pubmed.ncbi.nlm.nih.gov/31198081/] subset: DO_rare_slim xref: GARD:10047 xref: MESH:C536835 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0080700 name: caudal regression syndrome def: "A physical disorder that is characterized by impairment of the development of the lower half of the body." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30574238, url:https\://www.ncbi.nlm.nih.gov/pubmed/32200015] synonym: "caudal dysgenesis syndrome" EXACT [] synonym: "caudal dysplasia sequence" EXACT [] synonym: "caudal regression sequence" EXACT [] synonym: "sacral agenesis" EXACT [] synonym: "sacral defect with anterior meningocele" EXACT [] is_a: DOID:0080015 ! physical disorder [Term] id: DOID:0080701 name: prothrombin thrombophilia def: "A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11." [url:https\://pubmed.ncbi.nlm.nih.gov/21707594/] xref: MIM:188050 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0080702 name: medulloblastoma WNT activated def: "A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent." [url:https\://pubmed.ncbi.nlm.nih.gov/29582169/, url:https\://radiopaedia.org/articles/medulloblastoma-wnt-subgroup?lang=us] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9475/3 xref: NCI:C129440 is_a: DOID:0050902 ! medulloblastoma [Term] id: DOID:0080703 name: medulloblastoma SHH activated def: "A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent." [url:https\://onlinelibrary.wiley.com/doi/full/10.1002/acn3.762, url:https\://pubmed.ncbi.nlm.nih.gov/29582169/, url:https\://radiopaedia.org/articles/medulloblastoma-shh-subgroup?lang=us] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C129441 is_a: DOID:0050902 ! medulloblastoma [Term] id: DOID:0080704 name: medulloblastoma SHH activated and TP53 mutant def: "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations." [url:https\://ascopubs.org/doi/10.1200/JCO.2012.48.5052, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490254/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9476/3 xref: NCI:C129442 is_a: DOID:0080703 ! medulloblastoma SHH activated [Term] id: DOID:0080705 name: medulloblastoma SHH activated and TP53 wild-type def: "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743072/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Medulloblastoma SHH-Activated TP53-Wildtype" EXACT [] xref: ICDO:9471/3 xref: NCI:C129443 is_a: DOID:0080703 ! medulloblastoma SHH activated [Term] id: DOID:0080706 name: medulloblastoma non-WNT/non-SHH def: "A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent." [url:https\://pubmed.ncbi.nlm.nih.gov/30392813/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9477/3 xref: NCI:C129444 is_a: DOID:0050902 ! medulloblastoma [Term] id: DOID:0080707 name: medulloblastoma non-WNT/non-SHH group 3 def: "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present." [url:https\://pubmed.ncbi.nlm.nih.gov/29427151/, url:https\://pubmed.ncbi.nlm.nih.gov/30876441/] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C129445 is_a: DOID:0080706 ! medulloblastoma non-WNT/non-SHH [Term] id: DOID:0080708 name: medulloblastoma non-WNT/non-SHH group 4 def: "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present." [url:https\://pubmed.ncbi.nlm.nih.gov/29427151/] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C129446 is_a: DOID:0080706 ! medulloblastoma non-WNT/non-SHH [Term] id: DOID:0080709 name: NK cell deficiency def: "A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood." [url:https\://www.frontiersin.org/articles/10.3389/fimmu.2019.01703/full] is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0080710 name: T cell and NK cell immunodeficiency def: "A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency." [url:https\://pubmed.ncbi.nlm.nih.gov/31257346/] is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0080711 name: multisystem inflammatory syndrome in children def: "A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19." [url:https\://www.cdc.gov/coronavirus/2019-ncov/daily-life-coping/children/mis-c.html, url:https\://www.cdc.gov/mis-c/hcp/, url:https\://www.cdc.gov/mis-c/index.html, url:https\://www.cdc.gov/mmwr/volumes/69/wr/mm6932e2.htm?s_cid=mm6932e2_x] subset: DO_infectious_disease_slim synonym: "MIS-C" EXACT OMO:0003012 [] synonym: "multisystem inflammatory disorder in children and adolescents" EXACT [] synonym: "paediatric inflammatory multisystemic syndrome" EXACT [] is_a: DOID:0080599 ! Coronavirus infectious disease [Term] id: DOID:0080712 name: gene duplication disease def: "A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene." [url:https\://www.genome.gov/genetics-glossary/Duplication, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656685/] synonym: "gene duplication syndrome" EXACT [] is_a: DOID:0050177 ! monogenic disease [Term] id: DOID:0080713 name: obsolete MECP2 duplication syndrome def: "A syndrome that has_material_basis_in an extra copy of the MECP2 gene in each cell, occurs almost exclusively in males and that is characterized by delayed development of motor skills such as sitting and walking." [url:https\://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome, url:https\://rarediseases.info.nih.gov/diseases/9781/mecp2-duplication-syndrome] is_obsolete: true replaced_by: DOID:0060799 [Term] id: DOID:0080714 name: hereditary alpha tryptasemia syndrome def: "A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems." [url:https\://pubmed.ncbi.nlm.nih.gov/27749843/, url:https\://pubmed.ncbi.nlm.nih.gov/30007465/, url:https\://rarediseases.info.nih.gov/diseases/13193/hereditary-alpha-tryptasemia-syndrome, url:https\://www.niaid.nih.gov/research/hereditary-alpha-tryptasemia-faq] subset: DO_rare_slim xref: GARD:13193 is_a: DOID:0080712 ! gene duplication disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080715 name: developmental and epileptic encephalopathy 82 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21." [url:https\://pubmed.ncbi.nlm.nih.gov/31422819/] synonym: "DEE82" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 82" EXACT [] xref: MIM:618721 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080716 name: infantile liver failure syndrome def: "A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate." [url:https\://rarediseases.info.nih.gov/diseases/13114/disease] subset: DO_rare_slim xref: MIM:PS615438 xref: ORDO:370088 is_a: DOID:225 ! syndrome is_a: DOID:409 ! liver disease [Term] id: DOID:0080717 name: infantile liver failure syndrome 1 def: "An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32." [url:https\://pubmed.ncbi.nlm.nih.gov/22607940/] subset: DO_rare_slim xref: GARD:13114 xref: MIM:615438 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080716 ! infantile liver failure syndrome [Term] id: DOID:0080718 name: GNE myopathy def: "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis." [url:https\://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2, url:https\://pubmed.ncbi.nlm.nih.gov/29720219/, url:https\://pubmed.ncbi.nlm.nih.gov/30338442/, url:https\://rarediseases.org/rare-diseases/gne-myopathy/, url:https\://www.genome.gov/Current-NHGRI-Clinical-Studies/GNE-Myopathy] comment: Distal myopathy with rimmed vacuoles is a valid exact synonym (GNE gene), this name has been reused by OMIM for another disease, MIM:617158 (SQSTM1 gene) [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Distal Myopathy with Rimmed Vacuoles" RELATED [] synonym: "Distal myopathy, Nonaka type" EXACT [] synonym: "Hereditary Inclusion Body Myopathy" EXACT [] synonym: "inclusion body myopathy 2" EXACT [] synonym: "Nonaka myopathy" EXACT [] xref: GARD:9493 xref: MESH:C536816 xref: MESH:C538329 xref: MIM:605820 xref: NCI:C176900 xref: ORDO:602 xref: SNOMEDCT_US_2023_03_01:702382000 xref: UMLS_CUI:C1833373 xref: UMLS_CUI:C1853926 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:423 ! myopathy property_value: exactMatch "MESH:C536816" xsd:string [Term] id: DOID:0080719 name: congenital myopathy 6 def: "A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13." [url:https\://pubmed.ncbi.nlm.nih.gov/24193343/] subset: DO_rare_slim synonym: "inclusion body myopathy 3" EXACT [] synonym: "proximal myopathy and ophthalmoplegia" EXACT [] xref: GARD:9494 xref: MIM:605637 xref: ORDO:79091 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0080720 name: autosomal dominant congenital deafness with onychodystrophy def: "A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21." [url:https\://pubmed.ncbi.nlm.nih.gov/28396750/] subset: DO_rare_slim xref: GARD:4732 xref: MIM:124480 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0080721 name: calvarial doughnut lesions with bone fragility def: "An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483641/] subset: DO_rare_slim xref: MIM:126550 xref: ORDO:85192 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080722 name: Kenny-Caffey syndrome type 1 def: "A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42." [url:https\://pubmed.ncbi.nlm.nih.gov/9806825/] subset: DO_rare_slim xref: GARD:8367 xref: MIM:244460 xref: ORDO:93324 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080724 ! Kenny-Caffey syndrome [Term] id: DOID:0080723 name: Kenny-Caffey syndrome type 2 def: "A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12." [url:https\://pubmed.ncbi.nlm.nih.gov/23996431/] subset: DO_rare_slim xref: GARD:83 xref: MIM:127000 xref: ORDO:93325 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080724 ! Kenny-Caffey syndrome property_value: exactMatch "MESH:C537020" xsd:string [Term] id: DOID:0080724 name: Kenny-Caffey syndrome def: "A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia." [url:https\://en.wikipedia.org/wiki/Kenny-Caffey_syndrome] subset: DO_rare_slim xref: MIM:PS127000 xref: ORDO:2333 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080725 name: BASAN syndrome def: "An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet." [url:https\://pubmed.ncbi.nlm.nih.gov/8340514/] subset: DO_rare_slim xref: GARD:2336 xref: KEGG:H02296 xref: MESH:C537659 xref: MIM:129200 xref: ORDO:1658 is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0080726 name: Ehlers-Danlos syndrome classic type 2 def: "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars." [url:https\://pubmed.ncbi.nlm.nih.gov/22696272/] xref: MIM:130010 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080727 name: Ehlers-Danlos syndrome arthrochalasia type 1 def: "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21." [url:https\://pubmed.ncbi.nlm.nih.gov/18409203/] xref: MIM:130060 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080728 name: Ehlers-Danlos syndrome arthrochalasia type 2 def: "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21." [url:https\://pubmed.ncbi.nlm.nih.gov/18409203/] xref: MIM:617821 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080729 name: brittle cornea syndrome 2 def: "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27." [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/] xref: MIM:614170 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10124 ! corneal disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080730 name: Ehlers-Danlos syndrome cardiac valvular type def: "An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21." [url:https\://pubmed.ncbi.nlm.nih.gov/16816023/] xref: MIM:225320 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080731 name: Ehlers-Danlos syndrome classic-like 1 def: "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/] xref: MIM:606408 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080732 name: Ehlers-Danlos syndrome classic-like 2 def: "An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations." [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/] xref: MIM:618000 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080733 name: Ehlers-Danlos syndrome dermatosparaxis type def: "An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35." [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/] xref: MIM:225410 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080734 name: Ehlers-Danlos syndrome kyphoscoliotic type 1 def: "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe\nand that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36." [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/] xref: MIM:225400 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080735 name: Ehlers-Danlos syndrome kyphoscoliotic type 2 def: "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15." [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/] xref: MIM:614557 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome property_value: exactMatch "MIM:614557" xsd:string [Term] id: DOID:0080736 name: Ehlers-Danlos syndrome musculocontractural type 1 def: "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14." [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/] xref: MIM:601776 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080737 name: Ehlers-Danlos syndrome musculocontractural type 2 def: "An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22." [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/] xref: MIM:615539 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080738 name: Ehlers-Danlos syndrome spondylodysplastic type 1 def: "An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35." [url:https\://pubmed.ncbi.nlm.nih.gov/23956117/] xref: MIM:130070 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080739 name: Ehlers-Danlos syndrome spondylodysplastic type 3 def: "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features." [url:https\://pubmed.ncbi.nlm.nih.gov/18513683/] xref: MIM:612350 is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080740 name: Libman-Sacks endocarditis def: "An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease." [url:https\://pubmed.ncbi.nlm.nih.gov/25807885/, url:https\://pubmed.ncbi.nlm.nih.gov/30422459/] synonym: "Libmann–Sachs, Endocarditis in systemic lupus erythematosus" EXACT [] xref: ICD10CM:M32.11 is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:10314 ! endocarditis [Term] id: DOID:0080741 name: limbic encephalitis def: "An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520067/] subset: DO_rare_slim xref: GARD:8742 xref: MESH:D020363 is_a: DOID:0060004 ! autoimmune disease of central nervous system is_a: DOID:9588 ! encephalitis [Term] id: DOID:0080742 name: autoimmune cholangitis def: "An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera." [url:https\://pubmed.ncbi.nlm.nih.gov/15560034/, url:https\://pubmed.ncbi.nlm.nih.gov/25374727/] synonym: "autoimmune cholangiopathy" EXACT [] is_a: DOID:2048 ! autoimmune hepatitis [Term] id: DOID:0080743 name: transverse myelitis def: "A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below." [url:https\://www.mayoclinic.org/diseases-conditions/transverse-myelitis/symptoms-causes/syc-20354726, url:https\://www.ninds.nih.gov/health-information/disorders/transverse-myelitis] is_a: DOID:322 ! myelitis [Term] id: DOID:0080744 name: antisynthetase syndrome def: "An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases." [url:https\://en.wikipedia.org/wiki/Antisynthetase_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/27594777/] subset: DO_rare_slim xref: GARD:735 xref: MESH:C537778 xref: ORDO:81 is_a: DOID:417 ! autoimmune disease property_value: exactMatch "MESH:C537778" xsd:string [Term] id: DOID:0080745 name: polymyositis def: "A myositis that is characterized by muscle weakness affecting both sides of your body." [url:https\://my.clevelandclinic.org/health/diseases/12053-polymyositis, url:https\://www.mayoclinic.org/diseases-conditions/polymyositis/symptoms-causes/syc-20353208] subset: DO_rare_slim xref: GARD:7425 xref: MESH:D017285 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:633 ! myositis [Term] id: DOID:0080746 name: Sweet syndrome def: "A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions." [url:https\://pubmed.ncbi.nlm.nih.gov/17655751/, url:https\://rarediseases.org/rare-diseases/sweet-syndrome/, url:https\://www.ncbi.nlm.nih.gov/books/NBK431050/] synonym: "Acute Febrile Neutrophilic Dermatosis" EXACT [] synonym: "Sweet's syndrome" EXACT [] xref: MESH:D016463 is_a: DOID:1205 ! allergic disease is_a: DOID:37 ! skin disease [Term] id: DOID:0080747 name: chronic urticaria def: "An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week." [url:https\://pubmed.ncbi.nlm.nih.gov/30033911/] xref: MESH:D000080223 is_a: DOID:1555 ! urticaria [Term] id: DOID:0080748 name: chronic inducible urticaria def: "A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061968/] is_a: DOID:0080747 ! chronic urticaria [Term] id: DOID:0080749 name: chronic spontaneous urticaria def: "A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus." [url:https\://pubmed.ncbi.nlm.nih.gov/14501436/, url:https\://pubmed.ncbi.nlm.nih.gov/28671445/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061968/] synonym: "chronic idiopathic urticaria" EXACT [] is_a: DOID:0080747 ! chronic urticaria [Term] id: DOID:0080750 name: erythema nodosum def: "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter." [url:https\://en.wikipedia.org/wiki/Erythema_nodosum, url:https\://pubmed.ncbi.nlm.nih.gov/30269303/] xref: MESH:D004893 is_a: DOID:1526 ! panniculitis [Term] id: DOID:0080751 name: keratosis pilaris atrophicans def: "An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin." [url:https\://pubmed.ncbi.nlm.nih.gov/26142438/] xref: MIM:604093 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1697 ! ichthyosis [Term] id: DOID:0080752 name: keratosis pilaris atrophicans faciei def: "A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area." [url:https\://dermnetnz.org/topics/keratosis-pilaris-atrophicans-faciei/] is_a: DOID:0080751 ! keratosis pilaris atrophicans [Term] id: DOID:0080753 name: keratosis follicularis spinulosa decalvans def: "A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639957/] subset: DO_rare_slim xref: ORDO:2340 is_a: DOID:0080751 ! keratosis pilaris atrophicans [Term] id: DOID:0080754 name: X-linked keratosis follicularis spinulosa decalvans def: "A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/18984066/] subset: DO_rare_slim xref: GARD:6829 xref: MIM:308800 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080753 ! keratosis follicularis spinulosa decalvans [Term] id: DOID:0080755 name: autosomal dominant keratosis follicularis spinulosa decalvans def: "A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance." [url:https\://pubmed.ncbi.nlm.nih.gov/18984066/] xref: MIM:612843 is_a: DOID:0080753 ! keratosis follicularis spinulosa decalvans [Term] id: DOID:0080756 name: atrophoderma vermiculata def: "A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead." [url:https\://pubmed.ncbi.nlm.nih.gov/19326693/] subset: DO_rare_slim xref: GARD:9744 xref: MIM:209700 xref: ORDO:79100 is_a: DOID:0080751 ! keratosis pilaris atrophicans [Term] id: DOID:0080757 name: Fanconi renotubular syndrome 1 def: "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21." [url:https\://pubmed.ncbi.nlm.nih.gov/11090339/] xref: MIM:134600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1062 ! Fanconi syndrome [Term] id: DOID:0080758 name: Fanconi renotubular syndrome 2 def: "A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35." [url:https\://ghr.nlm.nih.gov/gene/SLC34A1, url:https\://pubmed.ncbi.nlm.nih.gov/26047794/] xref: MIM:613388 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1062 ! Fanconi syndrome [Term] id: DOID:0080759 name: Fanconi renotubular syndrome 3 def: "A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27." [url:https\://pubmed.ncbi.nlm.nih.gov/24401050/] xref: MIM:615605 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1062 ! Fanconi syndrome [Term] id: DOID:0080760 name: Fanconi renotubular syndrome 4 def: "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13." [url:https\://pubmed.ncbi.nlm.nih.gov/24285859/, url:https\://pubmed.ncbi.nlm.nih.gov/31875549/] xref: MIM:616026 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1062 ! Fanconi syndrome [Term] id: DOID:0080761 name: Fanconi renotubular syndrome 5 def: "A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22." [url:https\://pubmed.ncbi.nlm.nih.gov/27466185/] synonym: "Acadian-variant Fanconi syndrome" EXACT [] xref: MIM:618913 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1062 ! Fanconi syndrome [Term] id: DOID:0080762 name: autosomal recessive limb-girdle muscular dystrophy type 2Z def: "An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13." [url:https\://pubmed.ncbi.nlm.nih.gov/27807076/, url:https\://pubmed.ncbi.nlm.nih.gov/31897643/] subset: DO_rare_slim synonym: "limb-girdle muscular dystrophy 21" EXACT [] xref: MIM:617232 xref: ORDO:480682 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0080763 name: diffuse gastric cancer def: "A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining." [url:https\://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer] subset: DO_rare_slim xref: GARD:10334 is_a: DOID:10534 ! stomach cancer [Term] id: DOID:0080764 name: hereditary diffuse gastric cancer def: "A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes." [url:https\://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer, url:https\://pubmed.ncbi.nlm.nih.gov/20591882/, url:https\://rarediseases.info.nih.gov/diseases/10900/disease] subset: DO_rare_slim xref: GARD:10900 xref: MIM:137215 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080763 ! diffuse gastric cancer [Term] id: DOID:0080765 name: autosomal recessive intellectual developmental disorder 72 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31." [url:https\://pubmed.ncbi.nlm.nih.gov/29302074/, url:https\://pubmed.ncbi.nlm.nih.gov/31564433/] synonym: "autosomal recessive intellectual developmental disorder-72" EXACT [] synonym: "autosomal recessive mental retardation 72" EXACT [] xref: MIM:618665 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0080766 name: erythrokeratodermia variabilis et progressiva 6 def: "An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/30528822/] xref: MIM:618531 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080767 name: autoimmune myocarditis def: "An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5706653/] subset: DO_rare_slim xref: GARD:9519 is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:820 ! myocarditis [Term] id: DOID:0080768 name: pyridoxine-dependent epilepsy def: "An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine." [url:https\://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/, url:https\://rarediseases.org/rare-diseases/pyridoxine-dependent-epilepsy/] subset: DO_rare_slim xref: GARD:9298 xref: MESH:C536254 xref: ORDO:3006 xref: SNOMEDCT_US_2023_03_01:734434007 xref: UMLS_CUI:C1849508 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1826 ! epilepsy property_value: closeMatch "UMLS_CUI:C1849508" xsd:string property_value: exactMatch "GARD:9298" xsd:string property_value: exactMatch "MESH:C536254" xsd:string property_value: exactMatch "ORDO:3006" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:734434007" xsd:string [Term] id: DOID:0080769 name: early-onset vitamin B6-dependent epilepsy 1 def: "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/27912044/, url:https\://pubmed.ncbi.nlm.nih.gov/30668673/, url:https\://www.ncbi.nlm.nih.gov/books/NBK589231/] comment: The broad synonym 'early-onset vitamin B6-dependent epilepsy' is included only on this disease because it was a prior label for this disease. It might now be used more broadly. synonym: "early-onset vitamin B6-dependent epilepsy" BROAD [] synonym: "EPEO1" EXACT OMO:0003012 [] synonym: "PDE-PLPBP" EXACT OMO:0003012 [] xref: MIM:617290 is_a: DOID:0080768 ! pyridoxine-dependent epilepsy property_value: exactMatch "MIM:617290" xsd:string [Term] id: DOID:0080770 name: autosomal dominant beta thalassemia def: "A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia." [url:https\://pubmed.ncbi.nlm.nih.gov/1971109/] synonym: "inclusion body beta-thalassemia" EXACT [] xref: MIM:603902 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12241 ! beta thalassemia [Term] id: DOID:0080771 name: beta-thalassemia major def: "A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age." [url:https\://ghr.nlm.nih.gov/condition/beta-thalassemia, url:https\://pubmed.ncbi.nlm.nih.gov/12480689/, url:https\://www.ncbi.nlm.nih.gov/pubmed/19258591] subset: DO_rare_slim subset: NCIthesaurus synonym: "Cooley's anemia" EXACT [] xref: MIM:187550 xref: NCI:C129699 xref: ORDO:231214 is_a: DOID:12241 ! beta thalassemia [Term] id: DOID:0080772 name: beta-thalassemia intermedia def: "A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life." [url:https\://ghr.nlm.nih.gov/condition/beta-thalassemia] subset: DO_rare_slim xref: ORDO:231222 is_a: DOID:12241 ! beta thalassemia [Term] id: DOID:0080773 name: delta beta-thalassemia def: "A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild." [url:https\://pubmed.ncbi.nlm.nih.gov/30706898/, url:https\://pubmed.ncbi.nlm.nih.gov/31444804/] subset: DO_rare_slim subset: NCIthesaurus xref: NCI:C172823 xref: ORDO:231237 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12241 ! beta thalassemia [Term] id: DOID:0080774 name: thalassemia minor def: "A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia." [url:https\://ghr.nlm.nih.gov/condition/beta-thalassemia#inheritance] xref: MIM:187550 is_a: DOID:12241 ! beta thalassemia [Term] id: DOID:0080775 name: complete androgen insensitivity syndrome def: "An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus." [url:https\://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome] subset: DO_rare_slim subset: NCIthesaurus xref: ICD10CM:E34.51 xref: MESH:D013734 xref: NCI:C120191 xref: ORDO:99429 xref: SNOMEDCT_US_2023_03_01:267486007 xref: UMLS_CUI:C0936016 is_a: DOID:4674 ! androgen insensitivity syndrome [Term] id: DOID:0080776 name: partial androgen insensitivity syndrome def: "An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action." [url:https\://pubmed.ncbi.nlm.nih.gov/26303084/] subset: DO_rare_slim synonym: "Reifenstein syndrome" EXACT [] xref: GARD:5692 xref: MIM:312300 xref: ORDO:90797 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:4674 ! androgen insensitivity syndrome [Term] id: DOID:0080777 name: lung sarcomatoid carcinoma def: "A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C45540, url:https\://pubmed.ncbi.nlm.nih.gov/28081478/] subset: NCIthesaurus synonym: "pulmonary sarcomatoid carcinoma" EXACT [] synonym: "Sarcomatoid carcinoma of the lung" EXACT [] xref: NCI:C45540 is_a: DOID:3905 ! lung carcinoma [Term] id: DOID:0080778 name: transient infantile liver failure def: "A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13." [url:https\://pubmed.ncbi.nlm.nih.gov/19732863/, url:https\://pubmed.ncbi.nlm.nih.gov/21931168/, url:https\://pubmed.ncbi.nlm.nih.gov/27689697/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045200/] subset: DO_rare_slim xref: GARD:10593 xref: MIM:613070 xref: ORDO:217371 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:409 ! liver disease [Term] id: DOID:0080779 name: plasmablastic lymphoma def: "A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467349/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430862/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9735/3 xref: MESH:D000069293 xref: NCI:C7224 is_a: DOID:0081452 ! large B-cell lymphoma [Term] id: DOID:0080780 name: acute erythroid leukemia def: "An acute myeloid leukemia that is characterized by a predominant immature erythroid population." [url:https\://en.wikipedia.org/wiki/Acute_erythroid_leukemia] subset: NCIthesaurus xref: ICDO:9840/3 xref: NCI:C8923 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0080781 name: benign exocrine pancreas neoplasm def: "An endocrine organ benign neoplasm arising from the exocrine pancreas." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4613] subset: NCIthesaurus xref: NCI:C4613 is_a: DOID:0060089 ! endocrine organ benign neoplasm [Term] id: DOID:0080782 name: mucinous pancreas adenocarcinoma def: "A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin." [url:https\://www.nature.com/articles/s41598-018-24540-7] is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:4074 ! pancreatic adenocarcinoma [Term] id: DOID:0080783 name: obsolete X-linked sensorineural deafness is_obsolete: true replaced_by: DOID:0111737 [Term] id: DOID:0080784 name: urinary tract infection def: "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra." [url:https\://medlineplus.gov/urinarytractinfections.html, url:https\://www.cdc.gov/antibiotic-use/community/for-patients/common-illnesses/uti.html, url:https\://www.mayoclinic.org/diseases-conditions/urinary-tract-infection/symptoms-causes/syc-20353447] subset: DO_infectious_disease_slim synonym: "UTI" EXACT OMO:0003012 [] xref: ICD10CM:N39.0 xref: MESH:D014552 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:18 ! urinary system disease property_value: exactMatch "MESH:D014552" xsd:string [Term] id: DOID:0080785 name: Brown-Vialetto-Van Laere syndrome 1 def: "A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13." [url:https\://pubmed.ncbi.nlm.nih.gov/20206331/] xref: MIM:211530 is_a: DOID:0050694 ! Brown-Vialetto-Van Laere syndrome is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080786 name: Brown-Vialetto-Van Laere syndrome 2 def: "A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24." [url:https\://pubmed.ncbi.nlm.nih.gov/20206331/] xref: MIM:614707 is_a: DOID:0050694 ! Brown-Vialetto-Van Laere syndrome is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080787 name: proximal symphalangism 1 def: "A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22." [url:https\://pubmed.ncbi.nlm.nih.gov/16353259/] xref: MIM:185800 is_a: DOID:0050788 ! proximal symphalangism [Term] id: DOID:0080788 name: proximal symphalangism 2 def: "A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11." [url:https\://pubmed.ncbi.nlm.nih.gov/16892395/] xref: MIM:615298 is_a: DOID:0050788 ! proximal symphalangism [Term] id: DOID:0080789 name: Treacher Collins syndrome 1 def: "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32." [url:https\://pubmed.ncbi.nlm.nih.gov/15340364/] xref: MIM:154500 is_a: DOID:2908 ! Treacher Collins syndrome [Term] id: DOID:0080790 name: Treacher Collins syndrome 2 def: "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12." [url:https\://pubmed.ncbi.nlm.nih.gov/25790162/] xref: MIM:613717 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2908 ! Treacher Collins syndrome [Term] id: DOID:0080791 name: Treacher Collins syndrome 3 def: "A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21." [url:https\://pubmed.ncbi.nlm.nih.gov/11013442/] xref: MIM:248390 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2908 ! Treacher Collins syndrome [Term] id: DOID:0080792 name: Treacher Collins syndrome 4 def: "A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14." [url:https\://pubmed.ncbi.nlm.nih.gov/31649276/] xref: MIM:618939 is_a: DOID:2908 ! Treacher Collins syndrome [Term] id: DOID:0080794 name: childhood acute megakaryoblastic leukemia def: "An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood." [url:https\://pubmed.ncbi.nlm.nih.gov/28867167/, url:https\://www.nature.com/articles/ng.3772, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7309653/] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric non-Down syndrome acute megakaryoblastic leukemia" EXACT [] xref: NCI:C7972 is_a: DOID:8761 ! acute megakaryocytic leukemia [Term] id: DOID:0080795 name: acute basophilic leukemia def: "An acute myeloid leukemia that is characterized by primary differentiation to basophils." [url:http\://www.pathologyoutlines.com/topic/leukemiabasophil.html, url:https\://en.wikipedia.org/wiki/Acute_basophilic_leukemia] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9870/3 xref: NCI:C3164 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0080796 name: core binding factor acute myeloid leukemia def: "An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis." [url:https\://pubmed.ncbi.nlm.nih.gov/26980726/] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C122688 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0080797 name: nasal type extranodal NK/T-cell lymphoma def: "A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells." [url:https\://pubmed.ncbi.nlm.nih.gov/29602763/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9719/3 xref: NCI:C4684 is_a: DOID:0050743 ! mature T-cell and NK-cell lymphoma is_a: DOID:10811 ! nasal cavity cancer [Term] id: DOID:0080798 name: myeloid leukemia associated with Down Syndrome def: "An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/26910243/, url:https\://pubmed.ncbi.nlm.nih.gov/31606922/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9898/3 xref: NCI:C43223 is_a: DOID:8761 ! acute megakaryocytic leukemia [Term] id: DOID:0080799 name: sinonasal undifferentiated carcinoma def: "A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells." [url:https\://pubmed.ncbi.nlm.nih.gov/30806835/] subset: DO_cancer_slim subset: NCIthesaurus xref: MESH:C537344 xref: NCI:C54294 is_a: DOID:0050619 ! paranasal sinus cancer is_a: DOID:4931 ! nasal cavity carcinoma [Term] id: DOID:0080800 name: salivary gland mucinous adenocarcinoma def: "A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found." [url:https\://pubmed.ncbi.nlm.nih.gov/26908552/] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C62193 is_a: DOID:0050904 ! salivary gland carcinoma is_a: DOID:3030 ! mucinous adenocarcinoma [Term] id: DOID:0080801 name: autosomal dominant craniometaphyseal dysplasia def: "A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15." [url:https\://pubmed.ncbi.nlm.nih.gov/9382103/] xref: MIM:123000 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080033 ! craniometaphyseal dysplasia [Term] id: DOID:0080802 name: autosomal recessive craniometaphyseal dysplasia def: "A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22." [url:https\://pubmed.ncbi.nlm.nih.gov/9382103/] xref: MIM:218400 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080033 ! craniometaphyseal dysplasia [Term] id: DOID:0080803 name: cranioectodermal dysplasia 1 def: "A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21." [url:https\://pubmed.ncbi.nlm.nih.gov/517478/] xref: MIM:218330 is_a: DOID:0050577 ! cranioectodermal dysplasia [Term] id: DOID:0080804 name: cranioectodermal dysplasia 2 def: "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24." [url:https\://pubmed.ncbi.nlm.nih.gov/21378380/] xref: MIM:613610 is_a: DOID:0050577 ! cranioectodermal dysplasia [Term] id: DOID:0080805 name: cranioectodermal dysplasia 3 def: "A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24." [url:https\://pubmed.ncbi.nlm.nih.gov/21378380/] xref: MIM:614099 is_a: DOID:0050577 ! cranioectodermal dysplasia [Term] id: DOID:0080806 name: cranioectodermal dysplasia 4 def: "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14." [url:https\://pubmed.ncbi.nlm.nih.gov/21378380/] xref: MIM:614378 is_a: DOID:0050577 ! cranioectodermal dysplasia [Term] id: DOID:0080807 name: autosomal dominant craniodiaphyseal dysplasia def: "A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21." [url:https\://pubmed.ncbi.nlm.nih.gov/21221996/] xref: MIM:122860 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080032 ! craniodiaphyseal dysplasia [Term] id: DOID:0080808 name: mammary analogue secretory carcinoma def: "A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene." [url:http\://www.pathologyoutlines.com/topic/salivaryglandsmammary.html, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643951/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113190/] subset: DO_cancer_slim xref: MESH:D000069295 is_a: DOID:0050904 ! salivary gland carcinoma [Term] id: DOID:0080809 name: chronic asthma def: "An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency." [url:https\://www.ncbi.nlm.nih.gov/books/NBK7223/, url:https\://www.nhlbi.nih.gov/health/asthma] is_a: DOID:2841 ! asthma [Term] id: DOID:0080810 name: acute asthma def: "An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment." [url:https\://pubmed.ncbi.nlm.nih.gov/27554811/] is_a: DOID:2841 ! asthma [Term] id: DOID:0080811 name: extrinsic asthma def: "A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099102/] synonym: "atopic asthma" EXACT [] is_a: DOID:0080809 ! chronic asthma is_a: DOID:1205 ! allergic disease [Term] id: DOID:0080812 name: intermittent asthma def: "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity." [url:https\://www.aafp.org/afp/2009/0501/p761.html] is_a: DOID:0080809 ! chronic asthma [Term] id: DOID:0080813 name: persistent mild asthma def: "A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity." [url:https\://www.aafp.org/afp/2009/0501/p761.html] is_a: DOID:0080809 ! chronic asthma [Term] id: DOID:0080814 name: persistent moderate asthma def: "A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity." [url:https\://www.aafp.org/afp/2009/0501/p761.html] is_a: DOID:0080809 ! chronic asthma [Term] id: DOID:0080815 name: childhood-onset asthma def: "A chronic asthma that is characterized by first presentation in early childhood." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603154/] synonym: "childhood asthma" EXACT [] is_a: DOID:0080809 ! chronic asthma [Term] id: DOID:0080816 name: adult-onset severe asthma def: "A chronic asthma that is characterized by first presentation in adulthood." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603154/] is_a: DOID:0080809 ! chronic asthma [Term] id: DOID:0080817 name: T2-high asthma def: "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease." [url:https\://pubmed.ncbi.nlm.nih.gov/21281866/] synonym: "type 2 high endotype" EXACT [] is_a: DOID:0080809 ! chronic asthma [Term] id: DOID:0080818 name: T2-low asthma def: "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy." [url:https\://pubmed.ncbi.nlm.nih.gov/21281866/] synonym: "type 2 low endotype" EXACT [] is_a: DOID:0080809 ! chronic asthma [Term] id: DOID:0080819 name: environmental induced asthma def: "An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter." [url:https\://www.ncbi.nlm.nih.gov/books/NBK526018/] synonym: "irritant asthma" EXACT [] is_a: DOID:9360 ! intrinsic asthma [Term] id: DOID:0080820 name: occupational asthma def: "An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace." [url:https\://medlineplus.gov/ency/article/000110.htm, url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/asthma/occupational-asthma] is_a: DOID:0080819 ! environmental induced asthma [Term] id: DOID:0080821 name: exercise-induced bronchoconstriction def: "An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise." [url:https\://pubmed.ncbi.nlm.nih.gov/29631730/] synonym: "exercise-induced asthma" EXACT [] is_a: DOID:9360 ! intrinsic asthma [Term] id: DOID:0080822 name: aspirin-induced respiratory disease def: "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs." [url:https\://pubmed.ncbi.nlm.nih.gov/11028656/] synonym: "aspirin-sensitive asthma" EXACT [] is_a: DOID:9360 ! intrinsic asthma [Term] id: DOID:0080823 name: near-fatal asthma def: "An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation." [url:https\://pubmed.ncbi.nlm.nih.gov/27425166/] is_a: DOID:0080810 ! acute asthma [Term] id: DOID:0080824 name: persistent severe asthma def: "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity." [url:https\://www.aafp.org/afp/2009/0501/p761.html] is_a: DOID:0080809 ! chronic asthma [Term] id: DOID:0080825 name: thunderstorm triggered asthma def: "An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen." [url:https\://pubmed.ncbi.nlm.nih.gov/29413334/, url:https\://pubmed.ncbi.nlm.nih.gov/29880151/, url:https\://pubmed.ncbi.nlm.nih.gov/31190900/] synonym: "thunderstorm asthma" EXACT [] synonym: "thunderstorm related asthma" EXACT [] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0080826 name: nocturnal asthma def: "A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways." [url:https\://pubmed.ncbi.nlm.nih.gov/17571537/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197640/] is_a: DOID:0080809 ! chronic asthma [Term] id: DOID:0080827 name: human cytomegalovirus infection def: "A viral infectious disease that has_material_basis_in Human betaherpesvirus 5." [url:https\://pubmed.ncbi.nlm.nih.gov/25205255/] subset: DO_infectious_disease_slim is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0080828 name: VEXAS syndrome def: "A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11." [url:https\://www.nejm.org/doi/full/10.1056/NEJMoa2026834, url:https\://www.nih.gov/news-events/news-releases/scientists-use-clues-human-genome-discover-new-inflammatory-syndrome] subset: DO_rare_slim synonym: "vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome" EXACT [] xref: MIM:301054 xref: ORDO:596753 is_a: DOID:225 ! syndrome [Term] id: DOID:0080829 name: low grade glioma alt_id: DOID:0060101 def: "A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes)." [url:http\://www.danafarberbostonchildrens.org/conditions/brain-tumor/low-grade-glioma.aspx, url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/glioma, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361022/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "benign glioma" EXACT [] xref: NCI:C132067 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:319 ! spinal cord disease is_a: DOID:936 ! brain disease [Term] id: DOID:0080830 name: childhood low-grade glioma def: "A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology." [url:https\://pubmed.ncbi.nlm.nih.gov/23583981/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917804/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786244/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066826/] subset: DO_cancer_slim subset: DO_childhood_cancer_slim synonym: "pediatric low-grade glioma" EXACT [] is_a: DOID:0080829 ! low grade glioma [Term] id: DOID:0080831 name: subjective cognitive decline def: "A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints." [url:https\://pubmed.ncbi.nlm.nih.gov/24798886/] is_a: DOID:1561 ! cognitive disorder [Term] id: DOID:0080832 name: mild cognitive impairment def: "A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living." [url:https\://pubmed.ncbi.nlm.nih.gov/29282327/] is_a: DOID:1561 ! cognitive disorder [Term] id: DOID:0080833 name: laryngomalacia def: "A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying." [url:https\://www.childrenshospital.org/conditions-and-treatments/conditions/l/laryngomalacia, url:https\://www.childrenshospitalvanderbilt.org/medical-conditions/laryngomalacia] subset: DO_rare_slim synonym: "congenital laryngomalacia" EXACT [] xref: GARD:6865 xref: ICD10CM:Q31.5 xref: MIM:150280 xref: ORDO:2373 xref: SNOMEDCT_US_2023_03_01:253737007 xref: UMLS_CUI:C0345160 is_a: DOID:0080015 ! physical disorder is_a: DOID:786 ! laryngeal disease property_value: narrowMatch "MESH:D055092" xsd:string [Term] id: DOID:0080834 name: acquired laryngomalacia def: "A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures." [url:https\://pubmed.ncbi.nlm.nih.gov/24615649/] is_a: DOID:786 ! laryngeal disease [Term] id: DOID:0080835 name: TORCH syndrome def: "A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms." [url:https\://pubmed.ncbi.nlm.nih.gov/32317443/, url:https\://pubmed.ncbi.nlm.nih.gov/32734340/, url:https\://rarediseases.org/rare-diseases/torch-syndrome/, url:https\://www.childrenshospital.org/conditions-and-treatments/conditions/t/torch] subset: DO_rare_slim xref: GARD:7781 is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0080836 name: growth hormone insensitivity syndrome with immune dysregulation 1 def: "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21." [url:https\://pubmed.ncbi.nlm.nih.gov/16787985/] subset: DO_rare_slim xref: GARD:3924 xref: MIM:245590 xref: ORDO:220465 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080837 name: growth hormone insensitivity syndrome with immune dysregulation 2 def: "A syndrome that is characterized by short stature due to insensitivity to growth hormone and\nthat has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21." [url:https\://pubmed.ncbi.nlm.nih.gov/29844444/] xref: MIM:618985 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080839 name: X-linked warfarin sensitivity def: "An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27." [url:https\://pubmed.ncbi.nlm.nih.gov/29450643/] xref: MIM:301052 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0080840 name: optic atrophy 12 def: "An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11." [url:https\://pubmed.ncbi.nlm.nih.gov/32219868/] xref: MIM:618977 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0080841 name: pemphigoid def: "An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily." [url:https\://rarediseases.org/rare-diseases/pemphigus/] is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:8502 ! bullous skin disease [Term] id: DOID:0080842 name: intracranial meningioma def: "A meningioma that arises within the cranial cavity." [url:https\://pubmed.ncbi.nlm.nih.gov/17961033/] subset: NCIthesaurus xref: MESH:D008579 xref: NCI:C4656 xref: SNOMEDCT_US_2023_03_01:302820008 xref: UMLS_CUI:C0349604 is_a: DOID:3565 ! meningioma [Term] id: DOID:0080843 name: supratentorial meningioma def: "A meningioma that affects the supratentorial brain." [url:https\://pubmed.ncbi.nlm.nih.gov/26636386/] subset: NCIthesaurus xref: NCI:C6971 xref: UMLS_CUI:C1334698 is_a: DOID:3565 ! meningioma [Term] id: DOID:0080844 name: omodysplasia 1 def: "An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32." [url:https\://pubmed.ncbi.nlm.nih.gov/17823719/] subset: DO_rare_slim xref: MESH:C537746 xref: MIM:258315 xref: ORDO:93329 xref: SNOMEDCT_US_2023_03_01:725166005 xref: UMLS_CUI:C1850318 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060288 ! omodysplasia [Term] id: DOID:0080845 name: omodysplasia 2 def: "An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21." [url:https\://pubmed.ncbi.nlm.nih.gov/25759469/] xref: MESH:C567664 xref: MIM:164745 xref: SNOMEDCT_US_2023_03_01:725165009 xref: UMLS_CUI:C2750355 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060288 ! omodysplasia [Term] id: DOID:0080846 name: latent autoimmune diabetes in adults def: "A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus." [url:https\://pubmed.ncbi.nlm.nih.gov/29947172/, url:https\://pubmed.ncbi.nlm.nih.gov/30565440/] synonym: "LADA" EXACT OMO:0003012 [] synonym: "type 1.5 diabetes" EXACT [] xref: MESH:D000071698 is_a: DOID:9744 ! type 1 diabetes mellitus property_value: exactMatch "MESH:D000071698" xsd:string [Term] id: DOID:0080848 name: long COVID def: "A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia." [url:https\://www.bmj.com/content/371/bmj.m4470, url:https\://www.medrxiv.org/content/10.1101/2020.10.07.20208249v1, url:https\://www.medrxiv.org/content/10.1101/2020.10.07.20208702v1, url:https\://www.medrxiv.org/content/10.1101/2020.10.13.20211854v1, url:https\://www.nature.com/articles/d41586-020-02796-2] subset: DO_infectious_disease_slim synonym: "chronic COVID-19" EXACT [] synonym: "PASC" EXACT OMO:0003012 [] synonym: "post-acute sequelae of SARS-CoV-2 infection" EXACT [] synonym: "post-COVID syndrome" EXACT [] is_a: DOID:0080599 ! Coronavirus infectious disease [Term] id: DOID:0080849 name: ocular motor apraxia, Cogan type def: "An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements." [url:https\://en.wikipedia.org/wiki/Oculomotor_apraxia, url:https\://eyewiki.aao.org/Oculomotor_Apraxia, url:https\://rarediseases.org/rare-diseases/ocular-motor-apraxia-cogan-type/] subset: DO_rare_slim xref: GARD:16 xref: MIM:257550 xref: ORDO:1404 is_a: DOID:5614 ! eye disease [Term] id: DOID:0080850 name: pemphigus foliaceus def: "A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin." [url:https\://dermnetnz.org/topics/pemphigus-foliaceus/] subset: DO_rare_slim synonym: "pemphigus foliaceous" EXACT [] xref: GARD:7354 xref: ICD10CM:L10.2 xref: MESH:D010392 xref: ORDO:79481 xref: SNOMEDCT_US_2023_03_01:35154004 xref: UMLS_CUI:C0263313 is_a: DOID:9182 ! pemphigus [Term] id: DOID:0080851 name: IgA pemphigus def: "A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence." [url:https\://www.ncbi.nlm.nih.gov/books/NBK519063/] xref: SNOMEDCT_US_2023_03_01:402717008 xref: UMLS_CUI:C1274167 is_a: DOID:9182 ! pemphigus [Term] id: DOID:0080852 name: paraneoplastic pemphigus def: "A pemphigus that is characterized by painful blisters and denuded areas of the mouth, lips, oesophagus and skin." [url:https\://dermnetnz.org/topics/paraneoplastic-pemphigus/, url:https\://en.wikipedia.org/wiki/Paraneoplastic_pemphigus] xref: ICD10CM:L10.81 xref: UMLS_CUI:C1112570 is_a: DOID:9182 ! pemphigus [Term] id: DOID:0080854 name: anaplastic pleomorphic xanthoastrocytoma def: "A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields." [url:https\://www.hindawi.com/journals/crinm/2018/6428492/] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C129327 is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:0080855 name: Parkinsonism def: "A movement disorder that is characterized by disturbances of balance, gait and posture." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578144/] is_a: DOID:480 ! movement disease [Term] id: DOID:0080856 name: vascular Parkinsonism def: "A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327701/] is_a: DOID:0080855 ! Parkinsonism [Term] id: DOID:0080857 name: primary ovarian insufficiency 1 def: "A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28)." [url:https\://pubmed.ncbi.nlm.nih.gov/27861765/] subset: DO_rare_slim synonym: "FMR1-related primary ovarian insufficiency" EXACT [] synonym: "Fragile X-associated primary ovarian insufficiency" EXACT [] synonym: "premature ovarian failure 1" EXACT [] xref: GARD:4480 xref: MIM:311360 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080858 name: primary ovarian insufficiency 2A def: "A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22." [url:https\://pubmed.ncbi.nlm.nih.gov/9497258/] xref: MIM:300511 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080859 name: primary ovarian insufficiency 2B def: "A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene." [url:https\://pubmed.ncbi.nlm.nih.gov/16773570/] xref: MIM:300604 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080860 name: primary ovarian insufficiency 3 def: "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22." [url:https\://pubmed.ncbi.nlm.nih.gov/12149404/] xref: MIM:608996 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080861 name: primary ovarian insufficiency 4 def: "A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11." [url:https\://pubmed.ncbi.nlm.nih.gov/12836721/] xref: MIM:300510 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080862 name: primary ovarian insufficiency 5 def: "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35." [url:https\://pubmed.ncbi.nlm.nih.gov/17701902/] xref: MIM:611548 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080863 name: primary ovarian insufficiency 6 def: "A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13." [url:https\://pubmed.ncbi.nlm.nih.gov/18499083/] xref: MIM:612310 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080864 name: primary ovarian insufficiency 7 def: "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33." [url:https\://pubmed.ncbi.nlm.nih.gov/26523528/] xref: MIM:612964 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080865 name: primary ovarian insufficiency 8 def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22." [url:https\://pubmed.ncbi.nlm.nih.gov/24597867/] xref: MIM:615723 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080866 name: primary ovarian insufficiency 9 def: "A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22." [url:https\://pubmed.ncbi.nlm.nih.gov/24597873/] xref: MIM:615724 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080867 name: primary ovarian insufficiency 10 def: "A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p." [url:https\://pubmed.ncbi.nlm.nih.gov/25873734/] xref: MIM:612885 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080868 name: primary ovarian insufficiency 11 def: "A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11." [url:https\://pubmed.ncbi.nlm.nih.gov/26218421/] xref: MIM:616946 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080869 name: primary ovarian insufficiency 12 def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26." [url:https\://pubmed.ncbi.nlm.nih.gov/25062452/] xref: MIM:616947 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency property_value: exactMatch "MIM:616947" xsd:string [Term] id: DOID:0080870 name: primary ovarian insufficiency 13 def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21." [url:https\://pubmed.ncbi.nlm.nih.gov/28175301/] xref: MIM:617442 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080871 name: primary ovarian insufficiency 14 def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31." [url:https\://pubmed.ncbi.nlm.nih.gov/29044499/] xref: MIM:618014 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080872 name: primary ovarian insufficiency 15 def: "A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21." [url:https\://pubmed.ncbi.nlm.nih.gov/29231814/] xref: MIM:618096 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080873 name: primary ovarian insufficiency 16 def: "A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25." [url:https\://pubmed.ncbi.nlm.nih.gov/30010909/] xref: MIM:618723 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080874 name: primary ovarian insufficiency 17 def: "A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36." [url:https\://pubmed.ncbi.nlm.nih.gov/30489636/] xref: MIM:619146 is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0080875 name: IDH-mutant anaplastic astrocytoma def: "An anaplastic astrocytoma carrying IDH mutations." [url:https\://www.pathologyoutlines.com/topic/anaastroidhmutant.html] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C185167 is_a: DOID:3078 ! anaplastic astrocytoma [Term] id: DOID:0080876 name: IDH-wildtype anaplastic astrocytoma def: "An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes." [url:https\://www.pathologyoutlines.com/topic/cnstumoranaastroIDHwild.html] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9401/3 xref: NCI:C129291 is_a: DOID:3078 ! anaplastic astrocytoma [Term] id: DOID:0080877 name: astrocytoma, IDH-mutant, grade 4 def: "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas." [url:https\://pubmed.ncbi.nlm.nih.gov/33692446/] comment: The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas, removed previous name glioblastoma, IDH-mutant. subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9445/3 xref: NCI:C167335 is_a: DOID:0080875 ! IDH-mutant anaplastic astrocytoma [Term] id: DOID:0080878 name: IDH-wildtype glioblastoma def: "A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes." [url:https\://www.pathologyoutlines.com/topic/cnstumortumorglioIDHwild.html] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9440/3 xref: NCI:C39750 is_a: DOID:3068 ! glioblastoma [Term] id: DOID:0080879 name: histone mutated tumor def: "A high grade glioma that has_material_basis_in mutations in the genes encoding histones." [url:https\://www.annualreviews.org/doi/abs/10.1146/annurev-cancerbio-030617-050143] subset: DO_cancer_slim synonym: "histone mutated tumour" EXACT [] is_a: DOID:3070 ! high grade glioma [Term] id: DOID:0080880 name: diffuse glioma, H3 G34 mutant def: "A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein." [url:https\://pubmed.ncbi.nlm.nih.gov/30358620/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9385/3 xref: NCI:C185371 is_a: DOID:0080879 ! histone mutated tumor [Term] id: DOID:0080881 name: pleomorphic xanthoastrocytoma BRAF mutant def: "An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations." [url:https\://www.futuremedicine.com/doi/10.2217/cns-2019-0009] is_a: DOID:0080854 ! anaplastic pleomorphic xanthoastrocytoma [Term] id: DOID:0080882 name: IDH-mutant and 1p/19q-codeleted oligodendroglioma def: "An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion)." [url:https\://www.nature.com/articles/s41598-020-68733-5, url:https\://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html] subset: DO_cancer_slim subset: NCIthesaurus synonym: "anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted" EXACT [] synonym: "Oligodendroglioma, IDH-mutant and 1p/19q-codeleted" EXACT [] xref: NCI:C129321 is_a: DOID:7154 ! anaplastic oligodendroglioma [Term] id: DOID:0080883 name: vitamin D-dependent rickets def: "A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia." [url:https\://medlineplus.gov/genetics/condition/vitamin-d-dependent-rickets] xref: ICD10CM:E55.0 xref: ICD9CM:268.0 xref: SNOMEDCT_US_2023_03_01:68295002 xref: UMLS_CUI:C0221468 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:0080884 name: vitamin D-dependent rickets type 2A def: "A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q." [url:https\://pubmed.ncbi.nlm.nih.gov/27705794/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/] subset: DO_rare_slim xref: MIM:277440 xref: ORDO:93160 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080883 ! vitamin D-dependent rickets [Term] id: DOID:0080885 name: vitamin D-dependent rickets type 2B def: "A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/] subset: DO_rare_slim xref: MIM:600785 xref: ORDO:93160 is_a: DOID:0080883 ! vitamin D-dependent rickets [Term] id: DOID:0080886 name: vitamin D-dependent rickets type 1A def: "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13." [url:https\://pubmed.ncbi.nlm.nih.gov/27705794/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/] subset: DO_rare_slim xref: MIM:264700 xref: ORDO:289157 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080883 ! vitamin D-dependent rickets [Term] id: DOID:0080887 name: vitamin D-dependent rickets type 1B def: "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15." [url:https\://pubmed.ncbi.nlm.nih.gov/26365513/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/] subset: DO_rare_slim xref: MIM:600081 xref: ORDO:289157 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080883 ! vitamin D-dependent rickets [Term] id: DOID:0080888 name: spinal ependymoma, MYCN-amplified def: "A spinal cord ependymoma that is characterized by MYCN amplification." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851394/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Spinal Cord Ependymoma, MYCN Amplified" EXACT [] synonym: "spinal ependymoma, MYCN" EXACT [] xref: ICDO:9396/3 xref: NCI:C186494 is_a: DOID:5503 ! spinal cord ependymoma [Term] id: DOID:0080889 name: posterior fossa ependymoma def: "A high grade ependymoma that is located within the posterior fossa." [url:https\://pubmed.ncbi.nlm.nih.gov/26351223/, url:https\://pubmed.ncbi.nlm.nih.gov/32502305/] subset: DO_cancer_slim xref: ICDO:9391/3 is_a: DOID:5074 ! high grade ependymoma [Term] id: DOID:0080890 name: supratentorial ependymoma def: "A high grade ependymoma that is located within the supratentorial brain." [url:https\://pubmed.ncbi.nlm.nih.gov/27858204/] subset: DO_cancer_slim xref: ICDO:9391/3 is_a: DOID:5074 ! high grade ependymoma [Term] id: DOID:0080891 name: YAP1-MAMLD1 fusion-positive supratentorial ependymoma def: "A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion." [url:https\://www.nature.com/articles/s41467-019-11884-5] subset: DO_cancer_slim is_a: DOID:0080890 ! supratentorial ependymoma [Term] id: DOID:0080892 name: RELA fusion-positive ependymoma def: "A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene." [url:https\://www.pathologyoutlines.com/topic/cnstumorependymomarelafusion.html] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "C11orf95 fusion-positive supratentorial ependymoma" EXACT [] synonym: "Supratentorial C11ORF95-RELA fused ependymoma" EXACT [] xref: ICDO:9396/3 xref: NCI:C129351 xref: ORDO:530792 is_a: DOID:0080890 ! supratentorial ependymoma [Term] id: DOID:0080893 name: Bainbridge-Ropers syndrome def: "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12." [url:https\://pubmed.ncbi.nlm.nih.gov/23383720/, url:https\://pubmed.ncbi.nlm.nih.gov/23672984/, url:https\://pubmed.ncbi.nlm.nih.gov/27901041/, url:https\://pubmed.ncbi.nlm.nih.gov/32132929/, url:https\://www.ncbi.nlm.nih.gov/books/NBK563693/] subset: DO_rare_slim synonym: "ASXL3-related disorder" EXACT [] xref: GARD:13259 xref: MIM:615485 xref: ORDO:352577 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080894 name: lipofibromatosis-like neural tumor def: "A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion." [url:https\://clinicalsarcomaresearch.biomedcentral.com/articles/10.1186/s13569-020-00136-6, url:https\://pubmed.ncbi.nlm.nih.gov/27259011/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993549/] is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:0080895 name: rapidly involuting congenital hemangioma def: "A hemangioma that is characterized by complete regression." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786408/] subset: DO_rare_slim subset: NCIthesaurus xref: NCI:C172207 xref: ORDO:141184 is_a: DOID:0080015 ! physical disorder is_a: DOID:255 ! hemangioma [Term] id: DOID:0080896 name: pericytoma with t(7;12) def: "A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion." [url:http\://atlasgeneticsoncology.org/Tumors/Pericytomt0712ID5192.html, url:https\://pubmed.ncbi.nlm.nih.gov/30085941/] subset: DO_cancer_slim is_a: DOID:3316 ! perivascular tumor [Term] id: DOID:0080897 name: solitary fibrous tumor/hemangiopericytoma def: "A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas." [url:https\://pubmed.ncbi.nlm.nih.gov/29521591/, url:https\://thejns.org/view/journals/j-neurosurg/130/2/article-p418.xml, url:https\://www.sciencedirect.com/science/article/pii/S221475191830183X] subset: DO_cancer_slim subset: DO_rare_slim xref: ICDO:8815/1 xref: ORDO:2126 is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:0080898 name: cerebellofaciodental syndrome def: "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32." [url:https\://pubmed.ncbi.nlm.nih.gov/27748960, url:https\://pubmed.ncbi.nlm.nih.gov/32896090/] subset: DO_rare_slim synonym: "cerebellar-facial-dental syndrome" EXACT [] xref: MIM:616202 xref: ORDO:444072 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080899 name: lung pleomorphic carcinoma def: "A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung." [url:https\://pubmed.ncbi.nlm.nih.gov/31355240/] subset: NCIthesaurus xref: NCI:C45542 is_a: DOID:1324 ! lung cancer is_a: DOID:5662 ! pleomorphic carcinoma [Term] id: DOID:0080900 name: oral rhabdomyosarcoma def: "A rhabdomyosarcoma located in the oral cavity." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892211/] is_a: DOID:3247 ! rhabdomyosarcoma is_a: DOID:8618 ! oral cavity cancer [Term] id: DOID:0080901 name: bladder sarcomatoid transitional cell carcinoma def: "A sarcomatoid transitional cell carcinoma that is located_in the bladder." [url:https\://pubmed.ncbi.nlm.nih.gov/30287139/] is_a: DOID:11054 ! urinary bladder cancer is_a: DOID:4014 ! sarcomatoid transitional cell carcinoma [Term] id: DOID:0080902 name: bladder small cell carcinoma def: "A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells." [url:https\://pubmed.ncbi.nlm.nih.gov/29763719/] is_a: DOID:4007 ! bladder carcinoma [Term] id: DOID:0080903 name: embryonal tumor with multilayered rosettes, C19MC-altered alt_id: DOID:4794 def: "An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42)." [url:https\://radiopaedia.org/articles/embryonal-tumours-with-multilayered-rosettes-etmr?lang=us, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "ependymoblastoma" EXACT [] xref: MESH:D018242 xref: NCI:C4915 xref: SNOMEDCT_US_2023_03_01:253070006 xref: UMLS_CUI:C0700367 is_a: DOID:0081286 ! embryonal tumor with multilayered rosettes [Term] id: DOID:0080904 name: astroblastoma, MN1-altered def: "An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q." [url:https\://pubmed.ncbi.nlm.nih.gov/31111274/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843525/] subset: DO_cancer_slim synonym: "CNS high-grade neuroepithelial tumors with MN1 alteration" EXACT [] xref: ICDO:9430/3 is_a: DOID:7305 ! astroblastoma [Term] id: DOID:0080905 name: central nervous system neuroblastoma def: "A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres." [url:https\://pubmed.ncbi.nlm.nih.gov/29520437/] subset: NCIthesaurus xref: NCI:C4826 is_a: DOID:4439 ! central nervous system germ cell tumor [Term] id: DOID:0080906 name: CNS neuroblastoma with FOXR2 activation def: "A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo." [url:https\://link.springer.com/article/10.1007%2Fs10014-020-00370-2, url:https\://www.ncbi.nlm.nih.gov/articles/PMC7350623/] subset: DO_cancer_slim synonym: "central nervous system neuroblastoma with FOXR2 activation" EXACT [] synonym: "CNS NB-FOXR2" EXACT OMO:0003012 [] synonym: "CNS neuroblastoma, FOXR2-activated" EXACT [] xref: ICDO:9500/3 is_a: DOID:0080905 ! central nervous system neuroblastoma [Term] id: DOID:0080907 name: Cockayne syndrome A def: "A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11." [url:https\://medlineplus.gov/genetics/condition/cockayne-syndrome/] subset: DO_rare_slim synonym: "Cockayne syndrome type 1" EXACT [] synonym: "Cockayne syndrome type I" EXACT [] xref: GARD:1415 xref: MIM:216400 xref: ORDO:90321 is_a: DOID:2962 ! Cockayne syndrome [Term] id: DOID:0080908 name: Cockayne syndrome B def: "A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1342/] subset: DO_rare_slim synonym: "Cockayne syndrome 2" EXACT [] synonym: "Cockayne syndrome type II" EXACT [] xref: GARD:1420 xref: MIM:133540 xref: ORDO:90322 is_a: DOID:2962 ! Cockayne syndrome [Term] id: DOID:0080909 name: castration-resistant prostate carcinoma def: "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production." [url:https\://pubmed.ncbi.nlm.nih.gov/30324351/] subset: NCIthesaurus xref: MESH:D064129 xref: NCI:C130234 is_a: DOID:10286 ! prostate carcinoma property_value: broadMatch "MESH:D064129" xsd:string [Term] id: DOID:0080910 name: cerebrooculofacioskeletal syndrome def: "A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1342/] subset: DO_rare_slim xref: GARD:6027 xref: MIM:PS214150 is_a: DOID:2962 ! Cockayne syndrome [Term] id: DOID:0080911 name: cerebrooculofacioskeletal syndrome 1 def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11." [url:https\://pubmed.ncbi.nlm.nih.gov/20456449/] xref: MIM:214150 is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome [Term] id: DOID:0080912 name: cerebrooculofacioskeletal syndrome 2 def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/11443545/] xref: MESH:C565185 xref: MIM:610756 is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome [Term] id: DOID:0080913 name: cerebrooculofacioskeletal syndrome 3 def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33." [url:https\://pubmed.ncbi.nlm.nih.gov/24700531/] xref: MESH:C565035 xref: MIM:616570 is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome [Term] id: DOID:0080914 name: cerebrooculofacioskeletal syndrome 4 def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/23623389/] xref: MESH:C565184 xref: MIM:610758 is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome [Term] id: DOID:0080915 name: histiocytic sarcoma def: "A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520642/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9755/3 xref: MESH:D054747 xref: NCI:C27349 is_a: DOID:5621 ! histiocytic and dendritic cell cancer property_value: exactMatch "MESH:D054747" xsd:string [Term] id: DOID:0080916 name: erythroleukemia def: "An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857409/] subset: NCIthesaurus xref: NCI:C7152 is_a: DOID:0080780 ! acute erythroid leukemia [Term] id: DOID:0080917 name: sporadic amyotrophic lateral sclerosis def: "An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS." [url:https\://stanfordhealthcare.org/medical-conditions/brain-and-nerves/amyotrophic-lateral-sclerosis/types/sporadic-amyotrophic-lateral-sclerosis.html] xref: EFO:0001357 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0080918 name: polymicrogyria def: "A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri)." [url:https\://pubmed.ncbi.nlm.nih.gov/10489031/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1329/] subset: NCIthesaurus xref: MESH:D065706 xref: NCI:C116936 is_a: DOID:936 ! brain disease [Term] id: DOID:0080919 name: unilateral focal polymicrogyria def: "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1329/] subset: DO_rare_slim xref: ORDO:268947 is_a: DOID:0080918 ! polymicrogyria [Term] id: DOID:0080920 name: bilateral generalized polymicrogyria def: "A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1329/] is_a: DOID:0080918 ! polymicrogyria [Term] id: DOID:0080921 name: bilateral frontal polymicrogyria def: "A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability." [url:https\://en.wikipedia.org/wiki/Polymicrogyria#Unilateral_polymicrogyria, url:https\://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria] subset: DO_rare_slim xref: GARD:10783 xref: ORDO:208444 is_a: DOID:0080918 ! polymicrogyria [Term] id: DOID:0080922 name: bilateral frontoparietal polymicrogyria def: "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21." [url:https\://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria/cases/32002] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10784 xref: MIM:606854 xref: NCI:C148367 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080918 ! polymicrogyria [Term] id: DOID:0080923 name: bilateral parasagittal parieto-occipital polymicrogyria def: "A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21." [url:https\://pubmed.ncbi.nlm.nih.gov/10690985/, url:https\://pubmed.ncbi.nlm.nih.gov/9005867/] subset: DO_rare_slim synonym: "bilateral temporooccipital polymicrogyria" EXACT [] xref: GARD:10785 xref: MIM:612691 xref: ORDO:208441 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080918 ! polymicrogyria [Term] id: DOID:0080924 name: bilateral perisylvian polymicrogyria def: "A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21." [url:https\://pubmed.ncbi.nlm.nih.gov/24531968/] subset: DO_rare_slim xref: GARD:6011 xref: MIM:615752 xref: ORDO:98889 is_a: DOID:0080918 ! polymicrogyria [Term] id: DOID:0080925 name: cytochrome P450 oxidoreductase deficiency def: "A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1419/] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:12664 xref: MIM:613571 xref: NCI:C131302 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1701 ! steroid inherited metabolic disorder [Term] id: DOID:0080926 name: 7q11.23 duplication syndrome def: "A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7." [url:https\://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/, url:https\://www.ncbi.nlm.nih.gov/books/NBK327268/] subset: DO_rare_slim synonym: "7q11.23 microduplication syndrome" EXACT [] synonym: "chromosome 7q11.23 duplication syndrome" EXACT [] synonym: "William-Beuren region duplication syndrome" EXACT [] xref: GARD:12076 xref: MIM:609757 xref: ORDO:96121 is_a: DOID:0060429 ! chromosomal duplication syndrome [Term] id: DOID:0080927 name: apolipoprotein A-IV associated amyloidosis def: "An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease." [url:https\://pubmed.ncbi.nlm.nih.gov/27262366/] subset: DO_rare_slim synonym: "AApoAIV amyloidosis" EXACT [] synonym: "renal AApoAIV amyloidosis" EXACT [] xref: ORDO:439232 is_a: DOID:557 ! kidney disease is_a: DOID:9120 ! amyloidosis [Term] id: DOID:0080928 name: dialysis-related amyloidosis def: "An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153266/] subset: DO_rare_slim synonym: "ABeta2M amyloidosis" EXACT [] synonym: "Amyloidosis Beta2M" EXACT [] synonym: "Aβ2M amyloidosis" EXACT [] synonym: "Beta2-microglobulinic amyloidosis" EXACT [] synonym: "dialysis-related beta2-microglobulin amyloidosis" EXACT [] xref: GARD:0010563 xref: ORDO:439246 is_a: DOID:557 ! kidney disease is_a: DOID:9120 ! amyloidosis [Term] id: DOID:0080929 name: variant ABeta2M amyloidosis def: "An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy." [url:https\://pubmed.ncbi.nlm.nih.gov/32392555/] subset: DO_rare_slim synonym: "Autosomal dominant beta2-microglobulinic amyloidosis" EXACT [] xref: ORDO:314652 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9120 ! amyloidosis [Term] id: DOID:0080930 name: primary localized cutaneous amyloidosis 1 def: "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13." [url:https\://pubmed.ncbi.nlm.nih.gov/19663869/] synonym: "familial primary localized cutaneous amyloidosis-1" EXACT [] xref: MIM:105250 is_a: DOID:0050639 ! primary cutaneous amyloidosis [Term] id: DOID:0080931 name: primary localized cutaneous amyloidosis 2 def: "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11." [url:https\://pubmed.ncbi.nlm.nih.gov/19663869/] xref: MIM:613955 is_a: DOID:0050639 ! primary cutaneous amyloidosis [Term] id: DOID:0080932 name: primary localized cutaneous amyloidosis 3 def: "A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions." [url:https\://pubmed.ncbi.nlm.nih.gov/25866143/] synonym: "Amyloidosis cutis dyschromica" EXACT [] xref: MIM:617920 is_a: DOID:0050639 ! primary cutaneous amyloidosis [Term] id: DOID:0080933 name: immunoglobulin light chain amyloidosis def: "An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells." [url:https\://pubmed.ncbi.nlm.nih.gov/26771835/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841939/] synonym: "AL amyloidosis" EXACT [] synonym: "Amyloidosis primary systemic" EXACT [] synonym: "Light chain amyloidosis" EXACT [] synonym: "Primary AL amyloidosis" EXACT [] synonym: "Primary systemic AL amyloidosis" EXACT [] synonym: "Primary systemic amyloidosis" EXACT [] synonym: "Systemic AL amyloidsis" EXACT [] xref: ICD10CM:E85.81 xref: MESH:D000075363 is_a: DOID:114 ! heart disease is_a: DOID:409 ! liver disease is_a: DOID:557 ! kidney disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9120 ! amyloidosis [Term] id: DOID:0080934 name: immunoglobulin heavy chain amyloidosis def: "An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm." [url:https\://pubmed.ncbi.nlm.nih.gov/32703752/] subset: DO_rare_slim synonym: "AH amyloidosis" EXACT [] synonym: "Amyloidosis derived from immunoglobulin heavy chain" EXACT [] synonym: "Heavy chain amyloidosis" EXACT [] synonym: "Ig heavy-chain–associated amyloidosis" EXACT [] xref: ORDO:442582 is_a: DOID:557 ! kidney disease is_a: DOID:9120 ! amyloidosis [Term] id: DOID:0080935 name: immunoglobulin heavy-and-light chain def: "An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils." [url:https\://pubmed.ncbi.nlm.nih.gov/23302715/] synonym: "AH/AL amyloidosis" EXACT [] synonym: "Ig heavy-and-light-chain amyloidosis" EXACT [] is_a: DOID:9120 ! amyloidosis [Term] id: DOID:0080936 name: serum amyloid A amyloidosis def: "An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body." [url:https\://my.clevelandclinic.org/health/diseases/17854-amyloidosis-aa] synonym: "AA amyloidosis" EXACT [] synonym: "Apo serum amyloid A amyloidosis" EXACT [] synonym: "inflammation AA amyloidosis" EXACT [] synonym: "secondary amyloidosis" EXACT [] xref: ICD10CM:E85.3 is_a: DOID:2529 ! splenic disease is_a: DOID:409 ! liver disease is_a: DOID:557 ! kidney disease is_a: DOID:9120 ! amyloidosis [Term] id: DOID:0080937 name: wild-type amyloidosis def: "An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein." [url:https\://my.clevelandclinic.org/health/diseases/17855-amyloidosis-attr] synonym: "Age related amyloidosis" EXACT [] synonym: "ATTRwt amyloidosis" EXACT [] synonym: "Old age amyloidosis" EXACT [] synonym: "senile systemic amyloidosis" EXACT [] synonym: "wild-type ATTR amyloidosis" EXACT [] synonym: "wild-type transthyretin cardiac amyloidosis" EXACT [] is_a: DOID:114 ! heart disease is_a: DOID:9120 ! amyloidosis [Term] id: DOID:0080938 name: nonobstructive coronary artery disease def: "A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent." [url:https\://pubmed.ncbi.nlm.nih.gov/25369489/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536284/] synonym: "non-CAD" EXACT OMO:0003012 [] is_a: DOID:3393 ! coronary artery disease [Term] id: DOID:0080939 name: hereditary angioedema type I def: "A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q." [url:https\://pubmed.ncbi.nlm.nih.gov/11161971/] xref: MIM:106100 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14735 ! hereditary angioedema [Term] id: DOID:0080940 name: hereditary angioedema type III def: "A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35." [url:https\://pubmed.ncbi.nlm.nih.gov/16638441/] xref: MESH:D056828 xref: MIM:610618 is_a: DOID:14735 ! hereditary angioedema [Term] id: DOID:0080941 name: acquired angioedema def: "An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation." [url:https\://www.ncbi.nlm.nih.gov/books/NBK430889/] xref: MESH:C538173 is_a: DOID:1558 ! angioedema [Term] id: DOID:0080942 name: anauxetic dysplasia def: "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation." [url:https\://www.ncbi.nlm.nih.gov/books/NBK84550/] subset: DO_rare_slim xref: GARD:9657 xref: MESH:C538256 xref: MIM:PS607095 xref: ORDO:93347 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:0080943 name: 46,XX sex reversal 5 def: "A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26." [url:https\://pubmed.ncbi.nlm.nih.gov/29478779/] xref: MIM:618901 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111760 ! 46,XX sex reversal [Term] id: DOID:0080944 name: familial Behcet-like autoinflammatory syndrome def: "A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23." [url:https\://pubmed.ncbi.nlm.nih.gov/26642243/] synonym: "A20 haploinsufficiency" EXACT [] xref: MIM:616744 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0080945 name: abdominal obesity-metabolic syndrome 4 def: "An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36." [url:https\://pubmed.ncbi.nlm.nih.gov/31358993/] xref: MIM:618620 is_a: DOID:0060611 ! abdominal obesity-metabolic syndrome [Term] id: DOID:0080946 name: retinal dystrophy with leukodystrophy def: "A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12." [url:https\://pubmed.ncbi.nlm.nih.gov/27799409/] synonym: "ACBD5 deficiency" EXACT [] xref: MIM:618863 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0080947 name: acute flaccid myelitis def: "A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7909727/] xref: MESH:C000629404 is_a: DOID:322 ! myelitis [Term] id: DOID:0080948 name: agenesis of corpus callosum, cardiac, ocular, and genital syndrome def: "A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12." [url:https\://pubmed.ncbi.nlm.nih.gov/31585109/] xref: MIM:618929 is_a: DOID:225 ! syndrome [Term] id: DOID:0080949 name: alcoholic ketoacidosis def: "A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy." [url:https\://medlineplus.gov/ency/article/000323.htm] is_a: DOID:0050758 ! metabolic acidosis [Term] id: DOID:0080950 name: alopecia-mental retardation syndrome 4 def: "An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22." [url:https\://pubmed.ncbi.nlm.nih.gov/30723320/] xref: MIM:618840 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080627 ! alopecia-mental retardation syndrome [Term] id: DOID:0080951 name: alopecia-mental retardation syndrome 3 def: "An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2." [url:https\://pubmed.ncbi.nlm.nih.gov/17451405/] xref: MIM:613930 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080627 ! alopecia-mental retardation syndrome [Term] id: DOID:0080952 name: AMED syndrome def: "A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance." [url:https\://pubmed.ncbi.nlm.nih.gov/33355142/] synonym: "AMEDS" EXACT OMO:0003012 [] xref: MIM:619151 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080578 ! digenic disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080953 name: amelogenesis imperfecta type 1J def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/27843125/] synonym: "Amelogenesis imperfecta, type IJ" EXACT [] xref: MIM:617297 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0080954 name: arthrogryposis multiplex congenita def: "A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth." [url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/arthrogryposis, url:https\://www.merckmanuals.com/professional/pediatrics/congenital-craniofacial-and-musculoskeletal-abnormalities/arthrogryposis-multiplex-congenita] subset: DO_rare_slim xref: GARD:777 xref: MIM:PS617468 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:863 ! nervous system disease [Term] id: DOID:0080956 name: childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered def: "A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6772] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: NCI:C6772 is_a: DOID:7841 ! childhood embryonal tumor with multilayered rosettes, C19MC-altered [Term] id: DOID:0080957 name: primary hypoalphalipoproteinemia 1 def: "A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease." [url:https\://medlineplus.gov/genetics/condition/familial-hdl-deficiency/] subset: DO_rare_slim synonym: "familial HDL deficiency" EXACT [] synonym: "familial hypoalphalipoproteinemia" EXACT [] xref: GARD:2872 xref: MIM:604091 xref: ORDO:425 is_a: DOID:1387 ! hypolipoproteinemia [Term] id: DOID:0080958 name: primary hypoalphalipoproteinemia 2 def: "A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23." [url:https\://pubmed.ncbi.nlm.nih.gov/29396262/] subset: DO_rare_slim synonym: "Apolipoprotein A-I deficiency" EXACT [] xref: GARD:758 xref: MIM:618463 xref: ORDO:425 is_a: DOID:1387 ! hypolipoproteinemia [Term] id: DOID:0080959 name: arrhythmogenic right ventricular dysplasia 14 def: "An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12." [url:https\://pubmed.ncbi.nlm.nih.gov/28280076/] xref: MIM:618920 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080960 name: amelogenesis imperfecta type 2A6 def: "An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32." [url:https\://pubmed.ncbi.nlm.nih.gov/3150442/] synonym: "Amelogenesis imperfecta, hypomaturation type, IIA6" EXACT [] xref: MIM:617217 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0080962 name: anauxetic dysplasia 2 def: "A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22." [url:https\://pubmed.ncbi.nlm.nih.gov/28067412/] subset: DO_rare_slim xref: MIM:617396 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080942 ! anauxetic dysplasia [Term] id: DOID:0080963 name: anauxetic dysplasia 3 def: "A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13." [url:https\://pubmed.ncbi.nlm.nih.gov/31250547/] subset: DO_rare_slim xref: MIM:618853 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080942 ! anauxetic dysplasia [Term] id: DOID:0080964 name: intracranial berry aneurysm 1 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/16736093/] xref: MIM:105800 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060228 ! intracranial berry aneurysm [Term] id: DOID:0080965 name: intracranial berry aneurysm 2 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/14872410/] xref: MIM:608542 is_a: DOID:0060228 ! intracranial berry aneurysm [Term] id: DOID:0080966 name: intracranial berry aneurysm 3 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36." [url:https\://pubmed.ncbi.nlm.nih.gov/16736093/] xref: MIM:609122 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060228 ! intracranial berry aneurysm [Term] id: DOID:0080967 name: intracranial berry aneurysm 4 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3." [url:https\://pubmed.ncbi.nlm.nih.gov/16736093/] xref: MIM:610213 is_a: DOID:0060228 ! intracranial berry aneurysm [Term] id: DOID:0080968 name: intracranial berry aneurysm 5 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome Xp22." [url:https\://pubmed.ncbi.nlm.nih.gov/16736093/] xref: MIM:300870 is_a: DOID:0060228 ! intracranial berry aneurysm [Term] id: DOID:0080969 name: intracranial berry aneurysm 6 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21." [url:https\://pubmed.ncbi.nlm.nih.gov/16736093/] xref: MIM:611892 is_a: DOID:0060228 ! intracranial berry aneurysm [Term] id: DOID:0080970 name: intracranial berry aneurysm 7 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25." [url:https\://pubmed.ncbi.nlm.nih.gov/16736093/] xref: MIM:612161 is_a: DOID:0060228 ! intracranial berry aneurysm [Term] id: DOID:0080971 name: intracranial berry aneurysm 8 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23." [url:https\://pubmed.ncbi.nlm.nih.gov/16736093/] xref: MIM:612162 is_a: DOID:0060228 ! intracranial berry aneurysm [Term] id: DOID:0080972 name: intracranial berry aneurysm 9 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1." [url:https\://pubmed.ncbi.nlm.nih.gov/16736093/] xref: MIM:612586 is_a: DOID:0060228 ! intracranial berry aneurysm [Term] id: DOID:0080973 name: intracranial berry aneurysm 10 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1." [url:https\://pubmed.ncbi.nlm.nih.gov/16736093/] xref: MIM:612587 is_a: DOID:0060228 ! intracranial berry aneurysm [Term] id: DOID:0080974 name: intracranial berry aneurysm 11 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22." [url:https\://pubmed.ncbi.nlm.nih.gov/16736093/] xref: MIM:614252 is_a: DOID:0060228 ! intracranial berry aneurysm [Term] id: DOID:0080975 name: intracranial berry aneurysm 12 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14." [url:https\://pubmed.ncbi.nlm.nih.gov/16736093/] xref: MIM:618734 is_a: DOID:0060228 ! intracranial berry aneurysm [Term] id: DOID:0080976 name: acute myeloid leukemia with BCR-ABL1 def: "An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia." [url:https\://pubmed.ncbi.nlm.nih.gov/27297971/] subset: NCIthesaurus synonym: "Acute myeleoid leukemia with BCR-ABL1" EXACT [] xref: ICDO:9912/3 xref: NCI:C129785 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0080977 name: aortic valve disease 3 def: "A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24." [url:https\://pubmed.ncbi.nlm.nih.gov/30455415/] xref: MIM:618496 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080332 ! bicuspid aortic valve disease [Term] id: DOID:0080978 name: arthrogryposis multiplex congenita-1 def: "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/28318499/] xref: MIM:617468 is_a: DOID:0080954 ! arthrogryposis multiplex congenita [Term] id: DOID:0080979 name: arthrogryposis multiplex congenita-3 def: "An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25." [url:https\://pubmed.ncbi.nlm.nih.gov/27782104/] xref: MIM:618484 is_a: DOID:0080954 ! arthrogryposis multiplex congenita [Term] id: DOID:0080980 name: arthrogryposis multiplex congenita-4 def: "An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23." [url:https\://pubmed.ncbi.nlm.nih.gov/31960134/] synonym: "Zain syndrome" EXACT [] xref: MIM:618766 is_a: DOID:0080954 ! arthrogryposis multiplex congenita [Term] id: DOID:0080981 name: arthrogryposis multiplex congenita-5 def: "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34." [url:https\://pubmed.ncbi.nlm.nih.gov/29053766/] xref: MIM:618947 is_a: DOID:0080954 ! arthrogryposis multiplex congenita [Term] id: DOID:0080982 name: X-linked mental retardation-hypotonic facies syndrome-1 def: "A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes." [url:https\://pubmed.ncbi.nlm.nih.gov/15508018/] is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0080984 name: X-linked intellectual developmental disorder 109 def: "A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion." [url:https\://pubmed.ncbi.nlm.nih.gov/21739600/] subset: DO_rare_slim synonym: "fragile site on chromosome Xq28" EXACT [] synonym: "Fragile XE syndrome" EXACT [] xref: GARD:2378 xref: MIM:309548 xref: ORDO:100973 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0080985 name: syndromic X-linked intellectual disorder Lujan-Fryns-type def: "A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype." [url:https\://medlineplus.gov/genetics/condition/lujan-syndrome/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1676/] subset: DO_rare_slim xref: GARD:3307 xref: MIM:309520 xref: ORDO:776 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0080986 name: Ehlers-Danlos syndrome periodontal type 1 def: "An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13." [url:https\://pubmed.ncbi.nlm.nih.gov/27745832/] subset: DO_rare_slim xref: GARD:12474 xref: MIM:130080 xref: ORDO:75392 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080987 name: Ehlers-Danlos syndrome periodontal type 2 def: "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13." [url:https\://pubmed.ncbi.nlm.nih.gov/27745832/] subset: DO_rare_slim xref: GARD:12474 xref: MIM:617174 xref: ORDO:75392 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080988 name: pretibial dystrophic epidermolysis bullosa def: "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa." [url:https\://pubmed.ncbi.nlm.nih.gov/7738360/] subset: DO_rare_slim xref: GARD:2155 xref: MIM:131850 xref: ORDO:79410 is_a: DOID:4959 ! epidermolysis bullosa dystrophica [Term] id: DOID:0080990 name: King Denborough syndrome def: "A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1146/] subset: DO_rare_slim xref: GARD:8433 xref: MESH:C536883 xref: MIM:619542 xref: ORDO:99741 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:423 ! myopathy property_value: exactMatch "MESH:C536883" xsd:string property_value: exactMatch "MIM:619542" xsd:string [Term] id: DOID:0080991 name: congenital myopathy 1B def: "A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form." [url:https\://pubmed.ncbi.nlm.nih.gov/11731287/] subset: DO_rare_slim synonym: "multiminicore disease" EXACT [] xref: GARD:10316 xref: MIM:255320 xref: ORDO:598 is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0080992 name: rhabdomyolysis-myalgia syndrome def: "A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791790/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667763/] is_a: DOID:423 ! myopathy [Term] id: DOID:0080994 name: autoimmune epilepsy def: "An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction." [url:https\://pubmed.ncbi.nlm.nih.gov/27112680/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694338/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7541993/] is_a: DOID:0060004 ! autoimmune disease of central nervous system is_a: DOID:1826 ! epilepsy [Term] id: DOID:0080995 name: tuberculous encephalopathy def: "A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state." [url:https\://radiopaedia.org/articles/tuberculous-encephalopathy?lang=us] subset: DO_infectious_disease_slim is_a: DOID:399 ! tuberculosis [Term] id: DOID:0080996 name: diffuse large B-cell lymphoma activated B-cell type def: "A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes." [url:https\://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36081] subset: DO_cancer_slim subset: NCIthesaurus synonym: "DLBCL ABC type" EXACT [] xref: NCI:C36081 is_a: DOID:0050745 ! diffuse large B-cell lymphoma [Term] id: DOID:0080997 name: diffuse large B-cell lymphoma germinal center B-cell type def: "A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification." [url:https\://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36080] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C36080 is_a: DOID:0050745 ! diffuse large B-cell lymphoma [Term] id: DOID:0080998 name: acute necrotizing pancreatitis def: "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems." [url:https\://pubmed.ncbi.nlm.nih.gov/28381378/] xref: MESH:D019283 is_a: DOID:2913 ! acute pancreatitis [Term] id: DOID:0080999 name: acute hemorrhagic pancreatitis def: "An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5400340/] xref: MESH:D000081032 is_a: DOID:2913 ! acute pancreatitis [Term] id: DOID:0081000 name: Cowden syndrome 4 def: "A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23." [url:https\://pubmed.ncbi.nlm.nih.gov/21177507/] xref: MIM:615107 is_a: DOID:6457 ! Cowden syndrome [Term] id: DOID:0081001 name: Cowden syndrome 5 def: "A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26." [url:https\://pubmed.ncbi.nlm.nih.gov/23246288/] xref: MIM:615108 is_a: DOID:6457 ! Cowden syndrome [Term] id: DOID:0081002 name: Cowden syndrome 6 def: "A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3." [url:https\://pubmed.ncbi.nlm.nih.gov/23246288/] xref: MIM:615109 is_a: DOID:6457 ! Cowden syndrome [Term] id: DOID:0081003 name: Cowden syndrome 7 def: "A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11." [url:https\://pubmed.ncbi.nlm.nih.gov/26522472/] xref: MIM:616858 is_a: DOID:6457 ! Cowden syndrome [Term] id: DOID:0081004 name: high-grade B-cell lymphoma double-hit/triple-hit def: "A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes." [url:https\://pubmed.ncbi.nlm.nih.gov/29475959/] subset: NCIthesaurus synonym: "HGBL-DH/TH" EXACT OMO:0003012 [] synonym: "High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements" EXACT [] xref: NCI:C125904 is_a: DOID:0081452 ! large B-cell lymphoma [Term] id: DOID:0081005 name: parsley allergy def: "A vegetable allergy triggered by parsley (Petroselinum)." [url:https\://pubmed.ncbi.nlm.nih.gov/25648063/] is_a: DOID:0070334 ! vegetable allergy [Term] id: DOID:0081006 name: dill allergy def: "A food allergy triggered by dill (Anethum graveolens)." [url:https\://pubmed.ncbi.nlm.nih.gov/10831013/] is_a: DOID:0070334 ! vegetable allergy [Term] id: DOID:0081007 name: RNASET2-deficient cystic leukoencephalopathy def: "A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment." [url:https\://medlineplus.gov/genetics/condition/rnase-t2-deficient-leukoencephalopathy/#synonyms] subset: DO_rare_slim synonym: "cystic leukoencephalopathy without megalencephaly" EXACT [] synonym: "infantile-onset RNASET2 deficient cystic leukoencephalopathy" EXACT [] xref: GARD:13199 xref: MIM:612951 xref: ORDO:85136 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10579 ! leukodystrophy [Term] id: DOID:0081008 name: intellectual developmental disorder with cardiac arrhythmia def: "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21." [url:https\://pubmed.ncbi.nlm.nih.gov/27523599/] subset: DO_rare_slim synonym: "GNB5-related intellectual disability-cardiac arrhythmia syndrome" EXACT [] xref: MIM:617173 xref: ORDO:542306 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0081009 name: Bardet-Biedl syndrome 20 def: "A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23." [url:https\://pubmed.ncbi.nlm.nih.gov/24290075/] xref: MIM:619471 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0081010 name: Bardet-Biedl syndrome 21 def: "A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22." [url:https\://pubmed.ncbi.nlm.nih.gov/27008867/] xref: MIM:617406 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0081011 name: Bardet-Biedl syndrome 22 def: "A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21." [url:https\://pubmed.ncbi.nlm.nih.gov/27486776/] xref: MIM:617119 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0081012 name: critical COVID-19 def: "A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy." [url:https\://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1] subset: DO_infectious_disease_slim is_a: DOID:0080600 ! COVID-19 [Term] id: DOID:0081013 name: severe COVID-19 def: "A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs." [url:https\://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1] subset: DO_infectious_disease_slim is_a: DOID:0080600 ! COVID-19 [Term] id: DOID:0081014 name: non-severe COVID-19 def: "A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19." [url:https\://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1] subset: DO_infectious_disease_slim is_a: DOID:0080600 ! COVID-19 [Term] id: DOID:0081015 name: congenital fibrosis of the extraocular muscles 1 def: "A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12." [url:https\://pubmed.ncbi.nlm.nih.gov/18214786/] xref: MIM:135700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles [Term] id: DOID:0081016 name: congenital fibrosis of the extraocular muscles 2 def: "A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13." [url:https\://pubmed.ncbi.nlm.nih.gov/11600883/] xref: MIM:602078 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles [Term] id: DOID:0081017 name: congenital fibrosis of the extraocular muscles 3A def: "A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24." [url:https\://pubmed.ncbi.nlm.nih.gov/18214786/] xref: MIM:600638 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles [Term] id: DOID:0081019 name: congenital fibrosis of the extraocular muscles 3C def: "A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11)." [url:https\://pubmed.ncbi.nlm.nih.gov/15744040/] xref: MIM:609384 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles [Term] id: DOID:0081020 name: congenital fibrosis of the extraocular muscles 5 def: "A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25." [url:https\://pubmed.ncbi.nlm.nih.gov/25500261/] xref: MIM:616219 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles [Term] id: DOID:0081021 name: Tukel syndrome def: "A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left." [url:https\://pubmed.ncbi.nlm.nih.gov/15863670/] subset: DO_rare_slim synonym: "congenital fibrosis of the extraocular muscles 4" EXACT [] xref: GARD:9814 xref: MESH:C536925 xref: MIM:609428 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles [Term] id: DOID:0081022 name: retinal cone dystrophy 3B def: "A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24." [url:https\://pubmed.ncbi.nlm.nih.gov/15722315/] subset: DO_rare_slim synonym: "cone dystrophy with supernormal rod responses" EXACT [] xref: GARD:10649 xref: MESH:C563678 xref: MIM:610356 xref: ORDO:209932 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050795 ! cone dystrophy [Term] id: DOID:0081023 name: retinal cone dystrophy 4 def: "A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13." [url:https\://pubmed.ncbi.nlm.nih.gov/26560832/] subset: DO_rare_slim xref: GARD:10650 xref: MESH:C566470 xref: MIM:610478 is_a: DOID:0050795 ! cone dystrophy [Term] id: DOID:0081024 name: retinal cone dystrophy 1 def: "A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration." [url:https\://pubmed.ncbi.nlm.nih.gov/15051206/, url:https\://pubmed.ncbi.nlm.nih.gov/4573331/] subset: DO_rare_slim xref: GARD:3196 xref: MESH:C566719 xref: MIM:180020 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050795 ! cone dystrophy [Term] id: DOID:0081025 name: retinal cone dystrophy 3A def: "A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H0) on chromosome 12p13." [url:https\://pubmed.ncbi.nlm.nih.gov/22901948/] subset: DO_rare_slim xref: GARD:10648 xref: MESH:C566483 xref: MIM:610024 is_a: DOID:0050795 ! cone dystrophy [Term] id: DOID:0081026 name: benign peritoneal solitary fibrous tumor def: "A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels." [url:https\://medscimonit.com/abstract/index/idArt/459077/act/3] subset: NCIthesaurus xref: NCI:C126357 is_a: DOID:0060117 ! peritoneal benign neoplasm [Term] id: DOID:0081028 name: glycogen-rich carcinoma def: "A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen." [url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5350496/] subset: NCIthesaurus xref: ICDO:8315/3 xref: NCI:C4153 xref: SNOMEDCT_US_2023_03_01:189656007 xref: UMLS_CUI:C0334319 is_a: DOID:3458 ! breast adenocarcinoma [Term] id: DOID:0081030 name: central conducting lymphatic anomaly def: "A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22." [url:https\://pubmed.ncbi.nlm.nih.gov/31263281/] synonym: "lymphatic malformation-7" EXACT [] xref: MIM:617300 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:0081031 name: generalized lymphatic anomaly def: "A lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations." [url:https\://pubmed.ncbi.nlm.nih.gov/31263281/] is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:0081034 name: glutatione synthetase deficiency with 5-oxoprolinuria def: "A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline." [url:https\://pubmed.ncbi.nlm.nih.gov/15990954/] subset: DO_rare_slim xref: MIM:266130 xref: ORDO:32 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080699 ! glutathione synthetase deficiency [Term] id: DOID:0081036 name: mixed phenotype acute leukemia with BCR-ABL1 def: "An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR." [url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6369089/] subset: NCIthesaurus synonym: "Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1" EXACT [] xref: ICDO:9806/3 xref: NCI:C82192 is_a: DOID:9953 ! acute biphenotypic leukemia [Term] id: DOID:0081037 name: mixed phenotype acute leukemia with MLL rearranged def: "An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner." [url:https\://pubmed.ncbi.nlm.nih.gov/32350732/] subset: NCIthesaurus synonym: "Mixed Phenotype Acute Leukemia with t(v;11q23.3); MLL Rearranged" EXACT [] xref: ICDO:9807/3 xref: NCI:C82203 is_a: DOID:9953 ! acute biphenotypic leukemia [Term] id: DOID:0081038 name: mixed phenotype acute leukemia, B/myeloid def: "An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation." [url:https\://pubmed.ncbi.nlm.nih.gov/29686566/] subset: NCIthesaurus xref: ICDO:9808/3 xref: NCI:C82212 is_a: DOID:9953 ! acute biphenotypic leukemia [Term] id: DOID:0081039 name: mixed phenotype acute leukemia, T/myeloid def: "An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens." [url:https\://link.springer.com/article/10.1186/1471-2407-14-963] xref: ICDO:9809/3 is_a: DOID:9953 ! acute biphenotypic leukemia [Term] id: DOID:0081041 name: B-cell prolymphocytic leukemia def: "A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood." [url:https\://pubmed.ncbi.nlm.nih.gov/34293709/] subset: DO_rare_slim subset: NCIthesaurus synonym: "B Cell Prolymphocytic Leukemia" EXACT [] synonym: "Prolymphocytic leukemia, B-cell type" EXACT [] xref: GARD:8223 xref: ICDO:9833/3 xref: NCI:C4753 xref: ORDO:86852 is_a: DOID:1039 ! prolymphocytic leukemia [Term] id: DOID:0081042 name: T-cell prolymphocytic leukemia def: "A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin." [url:https\://pubmed.ncbi.nlm.nih.gov/31082044/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Prolymphocytic leukemia, T-cell type" EXACT [] synonym: "T Cell Prolymphocytic Leukemia" EXACT [] xref: ICDO:9834/3 xref: NCI:C4752 xref: ORDO:86871 is_a: DOID:1039 ! prolymphocytic leukemia [Term] id: DOID:0081043 name: fetal akinesia deformation sequence syndrome X-linked def: "A fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures." [url:https\://pubmed.ncbi.nlm.nih.gov/9018412/] subset: DO_rare_slim xref: GARD:2293 xref: MIM:300073 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome [Term] id: DOID:0081044 name: frontonasal dysplasia def: "A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak." [url:https\://medlineplus.gov/genetics/condition/frontonasal-dysplasia/, url:https\://pubmed.ncbi.nlm.nih.gov/27920634/] subset: DO_rare_slim xref: GARD:2392 xref: MESH:C538065 xref: MIM:PS136760 is_a: DOID:225 ! syndrome [Term] id: DOID:0081045 name: frontonasal dysplasia 1 def: "A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13." [url:https\://pubmed.ncbi.nlm.nih.gov/19409524/] synonym: "Frontorhiny" EXACT [] xref: MIM:136760 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081044 ! frontonasal dysplasia [Term] id: DOID:0081046 name: frontonasal dysplasia 2 def: "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11." [url:https\://pubmed.ncbi.nlm.nih.gov/22140057/] xref: MIM:613451 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081044 ! frontonasal dysplasia [Term] id: DOID:0081047 name: frontonasal dysplasia 3 def: "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21." [url:https\://pubmed.ncbi.nlm.nih.gov/20451171/, url:https\://pubmed.ncbi.nlm.nih.gov/27324866/] xref: MIM:613456 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081044 ! frontonasal dysplasia [Term] id: DOID:0081048 name: congenital limbs-face contractures-hypotonia-developmental delay syndrome def: "A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33." [url:https\://pubmed.ncbi.nlm.nih.gov/25864427/, url:https\://pubmed.ncbi.nlm.nih.gov/30167850/, url:https\://www.nature.com/articles/s41598-019-48071-x] subset: DO_rare_slim synonym: "CLIFAHDD syndrome" EXACT [] synonym: "congenital contractures of the limbs and face, hypotonia, and developmental delay" EXACT [] xref: MIM:616266 xref: ORDO:562528 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0081049 name: hepatosplenic T-cell lymphoma def: "A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type." [url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7596851/] subset: DO_rare_slim subset: NCIthesaurus xref: NCI:C8459 xref: ORDO:86882 is_a: DOID:0050743 ! mature T-cell and NK-cell lymphoma [Term] id: DOID:0081050 name: primary cutaneous gamma-delta T-cell lymphoma def: "A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype." [url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3471805/, url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8628721/] subset: NCIthesaurus synonym: "cutaneous gamma/delta T-cell lymphoma" EXACT [] synonym: "Primary Cutaneous Gamma-Delta T Cell Lymphomas" EXACT [] xref: NCI:C45340 is_a: DOID:0060061 ! primary cutaneous T-cell non-Hodgkin lymphoma [Term] id: DOID:0081051 name: microcephaly, growth deficiency, seizures, and brain malformations def: "A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22." [url:https\://pubmed.ncbi.nlm.nih.gov/26416026/] xref: MIM:618346 is_a: DOID:225 ! syndrome [Term] id: DOID:0081052 name: neurobehavioral disorder with prenatal alcohol exposure def: "A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction." [url:https\://pubmed.ncbi.nlm.nih.gov/27464676/, url:https\://www.cdc.gov/ncbddd/fasd/facts.html] is_a: DOID:0050696 ! fetal alcohol spectrum disorder [Term] id: DOID:0081055 name: central diabetes insipidus def: "A diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis." [url:https\://pubmed.ncbi.nlm.nih.gov/15070970/] subset: DO_rare_slim xref: GARD:6015 xref: ORDO:178029 is_a: DOID:9409 ! diabetes insipidus [Term] id: DOID:0081057 name: gestational diabetes insipidus def: "A diabetes insipidus that is characterized by progressively rising levels of placental vasopressinase throughout pregnancy, resulting in decreased endogenous vasopressin and resulting hypotonic polyuria worsening through the pregnancy." [url:https\://pubmed.ncbi.nlm.nih.gov/32205050/] synonym: "transient diabetes insipidus of pregnancy" EXACT [] xref: MESH:C548014 is_a: DOID:9409 ! diabetes insipidus [Term] id: DOID:0081058 name: dipsogenic diabetes insipidus def: "A diabetes insipidus that is characterized by excessive thirst, polyuria with low urine osmolality, and intact urine concentrating ability." [url:https\://pubmed.ncbi.nlm.nih.gov/33916272/, url:https\://pubmed.ncbi.nlm.nih.gov/3455068/] xref: MESH:C548013 is_a: DOID:9409 ! diabetes insipidus [Term] id: DOID:0081059 name: X-linked central diabetes insipidus def: "A central diabetes insipidus that has_material_basis_in X-linked inheritance." [url:https\://pubmed.ncbi.nlm.nih.gov/15070970/] subset: DO_rare_slim synonym: "X-linked neurohypophyseal diabetes insipidus" EXACT [] xref: MIM:304900 xref: ORDO:30925 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0081055 ! central diabetes insipidus [Term] id: DOID:0081060 name: X-linked nephrogenic diabetes insipidus def: "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/11181969/] synonym: "nephrogenic diabetes insipidus type 1" EXACT [] xref: MIM:304800 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12387 ! nephrogenic diabetes insipidus [Term] id: DOID:0081061 name: nephrogenic diabetes insipidus type 2 def: "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13." [url:https\://medlineplus.gov/ency/article/000511.htm] synonym: "autosomal nephrogenic diabetes insipidus-2" EXACT [] xref: MIM:125800 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12387 ! nephrogenic diabetes insipidus [Term] id: DOID:0081062 name: obsolete diabetes def: "A glucose metabolism disease that is characterized by high blood glucose." [url:https\://medlineplus.gov/diabetes.html] is_obsolete: true [Term] id: DOID:0081063 name: DICER1 syndrome def: "A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression." [url:https\://medlineplus.gov/genetics/condition/dicer1-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/31409088/, url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5977116/] subset: DO_cancer_slim subset: DO_rare_slim synonym: "Pleuro-pulmonary blastoma familial tumor susceptibility" EXACT [] synonym: "Pleuro-pulmonary blastoma familial tumor susceptibility syndrome" EXACT [] synonym: "Pleuropulmonary blastoma familial tumor susceptibility syndrome" EXACT [] synonym: "PPB familial tumor susceptibility syndrome" EXACT [] xref: MIM:601200 xref: ORDO:284343 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0081064 name: BN2 diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding." [url:https\://pubmed.ncbi.nlm.nih.gov/29641966/, url:https\://www.ncbi.nlm.nih.gov/articles/PMC8459709/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "BN2 DLBCL" EXACT OMO:0003012 [] xref: NCI:C148395 is_a: DOID:0050745 ! diffuse large B-cell lymphoma [Term] id: DOID:0081065 name: EZB diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding." [url:https\://pubmed.ncbi.nlm.nih.gov/29641966/, url:https\://www.ncbi.nlm.nih.gov/articles/PMC8459709/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "EZB DLBCL" EXACT OMO:0003012 [] xref: NCI:C148398 is_a: DOID:0050745 ! diffuse large B-cell lymphoma [Term] id: DOID:0081066 name: MCD diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding." [url:https\://pubmed.ncbi.nlm.nih.gov/29641966/, url:https\://www.ncbi.nlm.nih.gov/articles/PMC8459709/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "MCD DLBCL" EXACT OMO:0003012 [] xref: NCI:C148394 is_a: DOID:0050745 ! diffuse large B-cell lymphoma [Term] id: DOID:0081067 name: N1 diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features." [url:https\://pubmed.ncbi.nlm.nih.gov/29641966/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "N1 DLBCL" EXACT OMO:0003012 [] xref: NCI:C148396 is_a: DOID:0050745 ! diffuse large B-cell lymphoma [Term] id: DOID:0081068 name: ST2 diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding." [url:https\://www.ncbi.nlm.nih.gov/articles/PMC6010183/, url:https\://www.ncbi.nlm.nih.gov/articles/PMC8459709/] subset: DO_cancer_slim synonym: "ST2 DLBCL" EXACT OMO:0003012 [] is_a: DOID:0050745 ! diffuse large B-cell lymphoma [Term] id: DOID:0081069 name: A53 diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation." [url:https\://pubmed.ncbi.nlm.nih.gov/32289277/] subset: DO_cancer_slim synonym: "A53 DLBCL" EXACT OMO:0003012 [] is_a: DOID:0050745 ! diffuse large B-cell lymphoma [Term] id: DOID:0081070 name: EZB-MYC+ diffuse large B-cell lymphoma def: "An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations." [url:https\://pubmed.ncbi.nlm.nih.gov/32289277/, url:https\://www.ncbi.nlm.nih.gov/articles/PMC6010183/] subset: DO_cancer_slim synonym: "EZB-MYC+ DLBCL" EXACT OMO:0003012 [] is_a: DOID:0081065 ! EZB diffuse large B-cell lymphoma [Term] id: DOID:0081071 name: EZB-MYC- diffuse large B-cell lymphoma def: "An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations." [url:https\://pubmed.ncbi.nlm.nih.gov/32289277/, url:https\://www.ncbi.nlm.nih.gov/articles/PMC6010183/] subset: DO_cancer_slim synonym: "EZB-MYC- DLBCL" EXACT OMO:0003012 [] is_a: DOID:0081065 ! EZB diffuse large B-cell lymphoma [Term] id: DOID:0081072 name: craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome def: "A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills." [url:https\://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/, url:https\://pubmed.ncbi.nlm.nih.gov/20018682/, url:https\://pubmed.ncbi.nlm.nih.gov/24194475/, url:https\://pubmed.ncbi.nlm.nih.gov/30556256/] subset: DO_rare_slim synonym: "Cerebro-facio-thoracic dysplasia" EXACT [] synonym: "Cerebrofaciothoracic dysplasia" EXACT [] synonym: "Pascual-Castroviejo syndrome" EXACT [] synonym: "TMCO1 defect syndrome" EXACT [] xref: GARD:1210 xref: MIM:PS213980 xref: ORDO:1394 is_a: DOID:225 ! syndrome [Term] id: DOID:0081073 name: Teebi hypertelorism syndrome def: "A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features." [url:https\://pubmed.ncbi.nlm.nih.gov/26111080/, url:https\://www.omim.org/entry/145420] subset: DO_rare_slim synonym: "Brachycephalofrontonasal dysplasia" EXACT [] xref: GARD:957 xref: MIM:PS145420 xref: ORDO:2745 is_a: DOID:225 ! syndrome [Term] id: DOID:0081074 name: Teebi hypertelorism syndrome 2 def: "A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the CDH11 gene on chromosome 16q21." [url:https\://pubmed.ncbi.nlm.nih.gov/33811546/] xref: MIM:619736 is_a: DOID:0081073 ! Teebi hypertelorism syndrome [Term] id: DOID:0081075 name: Marsili syndrome def: "A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11." [url:https\://pubmed.ncbi.nlm.nih.gov/29253101/] synonym: "congenital analgesia" EXACT [] synonym: "congenital insensitivity to pain" EXACT [] xref: MIM:147430 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0081076 name: blastic plasmacytoid dendritic cell neoplasm def: "An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes." [url:https\://pubmed.ncbi.nlm.nih.gov/30350260/, url:https\://pubmed.ncbi.nlm.nih.gov/31972688/, url:https\://www.lls.org/leukemia/blastic-plasmacytoid-dendritic-cell-neoplasm] subset: NCIthesaurus synonym: "Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor" EXACT [] synonym: "Agranular CD4+ Natural Killer Cell Leukemia" EXACT [] synonym: "Blastic Natural Killer Leukemia/Lymphoma" EXACT [] synonym: "Blastic NK-Cell Lymphoma" EXACT [] synonym: "CD4+/CD56+ Hematodermic Neoplasm" EXACT [] synonym: "natural killer (NK) cell leukemia/lymphoma" EXACT [] xref: NCI:C7203 is_a: DOID:12603 ! acute leukemia [Term] id: DOID:0081077 name: ectodermal dysplasia and immune deficiency def: "An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency." [url:https\://medlineplus.gov/genetics/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency/, url:https\://pubmed.ncbi.nlm.nih.gov/27477329/, url:https\://pubmed.ncbi.nlm.nih.gov/34815879/] subset: DO_rare_slim synonym: "Anhidrotic ectodermal dysplasia with immune deficiency" EXACT [] synonym: "Ectodermal dysplasia, hypohidrotic, with immune deficiency" EXACT [] xref: GARD:9936 xref: MIM:PS300291 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0081078 name: ectodermal dysplasia and immunodeficiency 1 def: "An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/31965418/] subset: DO_rare_slim xref: MIM:300291 xref: ORDO:69088 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0081077 ! ectodermal dysplasia and immune deficiency [Term] id: DOID:0081079 name: ectodermal dysplasia and immunodeficiency 2 def: "An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13." [url:https\://pubmed.ncbi.nlm.nih.gov/28597146/] xref: MIM:612132 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081077 ! ectodermal dysplasia and immune deficiency [Term] id: DOID:0081080 name: acute myeloid leukemia with t(6;9) (p23;q34.1) def: "An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia." [url:https\://pubmed.ncbi.nlm.nih.gov/32526729/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Acute Myeloid Leukemia with t(6;9) (p23;q34.1); DEK-NUP214" EXACT [] synonym: "acute myeloid leukemia with t(6;9)(p23;q34)" EXACT [] synonym: "DEK-NUP214" EXACT [] xref: ICDO:9865/3 xref: NCI:C82423 xref: SNOMEDCT_US_2023_03_01:450928003 xref: UMLS_CUI:C2826169 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0081081 name: acute promyelocytic leukemia with PML-RARA def: "An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate." [url:https\://pubmed.ncbi.nlm.nih.gov/24720386/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "acute promyelocytic leukemia, t(15;17)(q22;q11-12)" EXACT [] xref: ICDO:9866/3 xref: NCI:C3182 is_a: DOID:0060318 ! acute promyelocytic leukemia [Term] id: DOID:0081082 name: acute myelomonocytic leukemia def: "An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors." [url:https\://pubmed.ncbi.nlm.nih.gov/31915926/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICD10CM:C92.5 xref: ICDO:9867/3 xref: MESH:D015479 xref: NCI:C7463 xref: SNOMEDCT_US_2023_03_01:30962008 xref: UMLS_CUI:C0023479 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0081083 name: acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) def: "An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression." [url:https\://pubmed.ncbi.nlm.nih.gov/31711889/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM" EXACT [] synonym: "Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1" EXACT [] xref: ICDO:9869/3 xref: NCI:C82426 xref: SNOMEDCT_US_2023_03_01:780844005 xref: UMLS_CUI:C2826172 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0081084 name: acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) def: "An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11." [url:https\://pubmed.ncbi.nlm.nih.gov/31353165/, url:https\://pubmed.ncbi.nlm.nih.gov/33303720/] subset: DO_cancer_slim synonym: "acute myeloid leukemia with abnormal marrow eosinophils" EXACT [] synonym: "Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11" EXACT [] xref: ICDO:9871/3 xref: SNOMEDCT_US_2023_03_01:103688009 xref: UMLS_CUI:C0522630 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0081085 name: acute myeloid leukemia with minimal differentiation def: "An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry." [url:https\://pubmed.ncbi.nlm.nih.gov/12110349/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Acute myeloid leukemia, minimal differentiation" EXACT [] synonym: "AML-M0" EXACT OMO:0003012 [] xref: ICD10CM:C92.0 xref: ICDO:9872/3 xref: NCI:C8460 xref: SNOMEDCT_US_2023_03_01:103689001 xref: UMLS_CUI:C0522631 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0081086 name: acute myeloid leukemia without maturation def: "An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage." [url:https\://wiki.clinicalflow.com/aml-acute-myelogenous-leukemia-without-maturation-m1] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:526 xref: ICD10CM:C92.0 xref: ICDO:9873/3 xref: MESH:D015470 xref: NCI:C3249 xref: ORDO:98833 xref: SNOMEDCT_US_2023_03_01:103690005 xref: UMLS_CUI:C0026998 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0081087 name: acute myeloid leukemia with maturation def: "An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage." [url:https\://en.wikipedia.org/wiki/Acute_myeloblastic_leukemia_with_maturation] subset: DO_cancer_slim subset: NCIthesaurus xref: ICD10CM:C92.0 xref: ICDO:9874/3 xref: MESH:D015470 xref: NCI:C3250 xref: SNOMEDCT_US_2023_03_01:103691009 xref: UMLS_CUI:C1879321 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0081088 name: chronic myelogenous leukemia, BCR-ABL1 positive def: "A chronic myeloid leukemia that is characterized by an abnormally high number of neutrophils and the expression of the BCR-ABL1 fusion gene." [url:https\://pubmed.ncbi.nlm.nih.gov/32239758/] subset: DO_cancer_slim synonym: "Chronic myelogenous leukemia, BCR/ABL positive" EXACT [] xref: ICD9CM:205.1 xref: ICDO:9875/3 xref: SNOMEDCT_US_2023_03_01:154592009 xref: UMLS_CUI:C0023473 is_a: DOID:8552 ! chronic myeloid leukemia [Term] id: DOID:0081089 name: acute myeloid leukemia with mutated NPM1 def: "An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features." [url:https\://pubmed.ncbi.nlm.nih.gov/32609823/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9877/3 xref: NCI:C82431 xref: SNOMEDCT_US_2023_03_01:703820005 xref: UMLS_CUI:C2826177 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0081090 name: acute myeloid leukemia with biallelic mutation of CEBPA def: "An acute myeloid leukemia with double mutations of the CEBPA gene." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394975/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9878/3 xref: NCI:C129782 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0081091 name: acute myeloid leukemia with mutated RUNX1 def: "An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities." [url:https\://pubmed.ncbi.nlm.nih.gov/32871587/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9879/3 xref: NCI:C129786 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0081092 name: acute myeloid leukemia with myelodysplasia-related changes def: "An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities." [url:https\://pubmed.ncbi.nlm.nih.gov/32864703/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9895/3 xref: NCI:C7600 xref: SNOMEDCT_US_2023_03_01:128827005 xref: UMLS_CUI:C2825139 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0081093 name: acute myeloid leukemia with t(8;21); (q22; q22.1) def: "An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules." [url:https\://pubmed.ncbi.nlm.nih.gov/31004601/, url:https\://pubmed.ncbi.nlm.nih.gov/35502592/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1" EXACT [] synonym: "acute myeloid leukemia, t(8;21)(q22;q22)" EXACT [] xref: ICDO:9896/3 xref: NCI:C9288 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0081094 name: acute myeloid leukemia with MLL rearrangement def: "An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene." [url:https\://pubmed.ncbi.nlm.nih.gov/34964255/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Acute Myeloid Leukemia with KMT2A/MLL Rearrangement" EXACT [] synonym: "acute myeloid leukemia, 11q23 abnormalities" EXACT [] xref: ICDO:9897/3 xref: NCI:C174129 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0081095 name: acute myeloid leukemia with mutated CEBPA def: "An acute myeloid leukemia with non-germline mutations of the CEBPA gene." [url:https\://medlineplus.gov/genetics/condition/familial-acute-myeloid-leukemia-with-mutated-cebpa/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9861/3 xref: NCI:C82433 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0081096 name: acute myeloid leukemia with t(1;22)(p13;q13) def: "An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein." [url:https\://pubmed.ncbi.nlm.nih.gov/22469944/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1" EXACT [] xref: ICDO:9911/3 xref: NCI:C82427 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0081097 name: Rafiq syndrome def: "An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34." [url:https\://pubmed.ncbi.nlm.nih.gov/29908352/] synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15" EXACT [] xref: MIM:614202 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081098 name: autosomal recessive intellectual developmental disorder 13 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24." [url:https\://pubmed.ncbi.nlm.nih.gov/22549410/] xref: MIM:613192 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081099 name: neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/30296593/] synonym: "autosomal recessive mental retardation 36" EXACT [] xref: MIM:615286 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081100 name: spastic paraplegia with deafness def: "A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life." [url:https\://pubmed.ncbi.nlm.nih.gov/27271711/, url:https\://pubmed.ncbi.nlm.nih.gov/3741213/] subset: DO_rare_slim synonym: "Spastic paraparesis-deafness syndrome" EXACT [] synonym: "Wells Jankovic Syndrome" EXACT [] xref: GARD:5555 xref: MESH:C536692 xref: MIM:312910 xref: ORDO:2815 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0081101 name: nonautoimmune hyperthyroidism def: "A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31." [url:https\://pubmed.ncbi.nlm.nih.gov/8964822/] subset: DO_rare_slim synonym: "Congenital nonautoimmune hyperthyroidism" EXACT [] xref: MIM:609152 xref: ORDO:424 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:7998 ! hyperthyroidism [Term] id: DOID:0081102 name: familial gestational hyperthyroidism def: "A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31." [url:https\://pubmed.ncbi.nlm.nih.gov/9267761/] subset: DO_rare_slim xref: MIM:603373 xref: ORDO:99819 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:7998 ! hyperthyroidism [Term] id: DOID:0081104 name: hot water epilepsy def: "A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head." [url:https\://pubmed.ncbi.nlm.nih.gov/12558829/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/] subset: DO_rare_slim synonym: "bathing epilepsy" EXACT [] synonym: "water immersion epilepsy" EXACT [] xref: MIM:PS613339 xref: ORDO:166412 is_a: DOID:2548 ! reflex epilepsy [Term] id: DOID:0081105 name: keratosis palmoplantaris striata def: "A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm." [url:https\://pubmed.ncbi.nlm.nih.gov/29934816/] subset: DO_rare_slim xref: ORDO:50942 is_a: DOID:3390 ! palmoplantar keratosis [Term] id: DOID:0081106 name: hot water epilepsy 1 def: "A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3." [url:https\://pubmed.ncbi.nlm.nih.gov/12558829/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/] synonym: "Hot Water Epilepsy, 1" EXACT [] xref: MIM:613339 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081104 ! hot water epilepsy [Term] id: DOID:0081107 name: hot water epilepsy 2 def: "A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/] synonym: "Hot Water Epilepsy, 2" EXACT [] xref: MIM:613340 is_a: DOID:0081104 ! hot water epilepsy [Term] id: DOID:0081108 name: keratosis palmoplantaris striata 1 def: "A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12." [url:https\://pubmed.ncbi.nlm.nih.gov/29934816/] subset: DO_rare_slim xref: GARD:9172 xref: MESH:C536162 xref: MIM:148700 xref: ORDO:369999 xref: ORDO:370002 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081105 ! keratosis palmoplantaris striata [Term] id: DOID:0081109 name: keratosis palmoplantaris striata 2 def: "A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24." [url:https\://pubmed.ncbi.nlm.nih.gov/10594734/] xref: MESH:C565102 xref: MIM:612908 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081105 ! keratosis palmoplantaris striata [Term] id: DOID:0081110 name: keratosis palmoplantaris striata 3 def: "A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13." [url:https\://pubmed.ncbi.nlm.nih.gov/11982762/] xref: MESH:C536163 xref: MIM:607654 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081105 ! keratosis palmoplantaris striata [Term] id: DOID:0081111 name: osteosclerotic metaphyseal dysplasia def: "A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26." [url:https\://pubmed.ncbi.nlm.nih.gov/18811698/] subset: DO_rare_slim xref: MIM:615198 xref: ORDO:500548 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080019 ! metaphyseal dysplasia [Term] id: DOID:0081112 name: Baraitser-Winter syndrome 1 def: "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome." [url:https\://pubmed.ncbi.nlm.nih.gov/29220674/] xref: MIM:243310 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060229 ! Baraitser-Winter syndrome [Term] id: DOID:0081113 name: Baraitser-Winter syndrome 2 def: "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25." [url:https\://pubmed.ncbi.nlm.nih.gov/25052316/] xref: MIM:614583 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060229 ! Baraitser-Winter syndrome [Term] id: DOID:0081114 name: benign familial infantile seizures 1 def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in the BFIS1 locus mapped to chromosome 19q." [url:https\://pubmed.ncbi.nlm.nih.gov/9339675/] synonym: "Benign Familial Infantile Seizures, 1" EXACT [] xref: MIM:601764 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060169 ! benign familial infantile epilepsy [Term] id: DOID:0081115 name: benign familial infantile seizures 2 def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11." [url:https\://pubmed.ncbi.nlm.nih.gov/18479385/] synonym: "Benign Familial Infantile Seizures, 2" EXACT [] xref: MIM:605751 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060169 ! benign familial infantile epilepsy [Term] id: DOID:0081116 name: benign familial infantile seizures 3 def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24." [url:https\://pubmed.ncbi.nlm.nih.gov/11094099/] synonym: "Benign Familial Infantile Seizures, 3" EXACT [] synonym: "benign familial neonatal-infantile seizures" EXACT [] xref: MIM:607745 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060169 ! benign familial infantile epilepsy [Term] id: DOID:0081117 name: benign familial infantile seizures 4 def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in an association on chromosome 1p36.12-p35.1." [url:https\://pubmed.ncbi.nlm.nih.gov/18811698/] synonym: "Benign Familial Infantile Seizures, 4" EXACT [] xref: MIM:612627 is_a: DOID:0060169 ! benign familial infantile epilepsy [Term] id: DOID:0081118 name: benign familial infantile seizures 5 def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13." [url:https\://pubmed.ncbi.nlm.nih.gov/23086396/] synonym: "Benign Familial Infantile Seizures, 5" EXACT [] xref: MIM:617080 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060169 ! benign familial infantile epilepsy [Term] id: DOID:0081119 name: benign familial infantile seizures 6 def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21." [url:https\://pubmed.ncbi.nlm.nih.gov/25847220/] synonym: "Autosomal dominant nocturnal frontal lobe epilepsy" EXACT [] synonym: "Benign Familial Infantile Seizures, 6" EXACT [] synonym: "nocturnal frontal lobe epilepsy-4" EXACT [] xref: MIM:610353 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060169 ! benign familial infantile epilepsy [Term] id: DOID:0081120 name: Graves ophthalmopathy def: "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes." [url:https\://en.wikipedia.org/wiki/Graves%27_ophthalmopathy] synonym: "Graves orbitopathy" EXACT [] synonym: "Thyroid associated ophthalmopathy" EXACT [] synonym: "thyroid eye disease" EXACT [] xref: MESH:D049970 is_a: DOID:0060030 ! autoimmune disease of eyes, ear, nose and throat [Term] id: DOID:0081121 name: inclusion body myopathy and brain white matter abnormalities def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22." [url:https\://pubmed.ncbi.nlm.nih.gov/34048612/] synonym: "multisystem proteinopathy 6" EXACT [] xref: MIM:619733 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia [Term] id: DOID:0081122 name: Catel Manzke syndrome def: "A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32." [url:https\://pubmed.ncbi.nlm.nih.gov/18501694/] subset: DO_rare_slim synonym: "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" EXACT [] synonym: "Micrognathia digital syndrome" EXACT [] xref: GARD:28 xref: MESH:C535347 xref: MIM:616145 xref: ORDO:1388 is_a: DOID:0080001 ! bone disease [Term] id: DOID:0081123 name: X-linked mental retardation Gustavson type def: "A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death." [url:https\://pubmed.ncbi.nlm.nih.gov/8503440/] subset: DO_rare_slim synonym: "mental retardation with optic atrophy, deafness and seizures" EXACT [] xref: GARD:5611 xref: MIM:309555 xref: ORDO:3078 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0081124 name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 def: "A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24." [url:https\://pubmed.ncbi.nlm.nih.gov/24194475/] xref: MIM:213980 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081072 ! craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome [Term] id: DOID:0081125 name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 def: "A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11." [url:https\://pubmed.ncbi.nlm.nih.gov/24194475/] xref: MIM:616994 is_a: DOID:0081072 ! craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome [Term] id: DOID:0081126 name: DeSanto-Shinawi syndrome def: "A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11." [url:https\://pubmed.ncbi.nlm.nih.gov/26264232/, url:https\://www.ncbi.nlm.nih.gov/articles/PMC9034681/, url:https\://www.ncbi.nlm.nih.gov/books/NBK465012/] subset: DO_rare_slim synonym: "Chromosome 10p12-p11 deletion syndrome" EXACT [] synonym: "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion" EXACT [] synonym: "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation" EXACT [] synonym: "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" EXACT [] xref: MIM:616708 xref: ORDO:284169 xref: ORDO:466943 xref: ORDO:466950 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0081127 name: mandibuloacral dysplasia def: "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." [url:https\://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia/, url:https\://pubmed.ncbi.nlm.nih.gov/29208544/, url:https\://rarediseases.org/rare-diseases/mandibuloacral-dysplasia/] subset: DO_rare_slim xref: GARD:11893 xref: MIM:PS248370 xref: ORDO:2457 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:0081128 name: mandibuloacral dysplasia type A lipodystrophy def: "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." [url:https\://pubmed.ncbi.nlm.nih.gov/19764019/] subset: DO_rare_slim xref: GARD:3374 xref: MIM:248370 xref: ORDO:90153 is_a: DOID:0081127 ! mandibuloacral dysplasia [Term] id: DOID:0081129 name: mandibuloacral dysplasia type B lipodystrophy def: "A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities." [url:https\://pubmed.ncbi.nlm.nih.gov/11836320/] xref: MIM:608612 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081127 ! mandibuloacral dysplasia [Term] id: DOID:0081130 name: BH4-deficient hyperphenylalaninemia C def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15." [url:https\://pubmed.ncbi.nlm.nih.gov/11388593/] synonym: "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency" EXACT [] xref: MIM:261630 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia [Term] id: DOID:0081131 name: BH4-deficient hyperphenylalaninemia D def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22." [url:https\://pubmed.ncbi.nlm.nih.gov/24204001/] subset: DO_rare_slim synonym: "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency" EXACT [] xref: GARD:2843 xref: MIM:264070 xref: ORDO:1578 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia [Term] id: DOID:0081132 name: tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia def: "An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4." [url:https\://medlineplus.gov/genetics/condition/tetrahydrobiopterin-deficiency/, url:https\://pubmed.ncbi.nlm.nih.gov/11388593/] subset: DO_rare_slim xref: GARD:7751 xref: ORDO:238583 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0081133 name: 3-methylglutaconic aciduria type 7a def: "A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13." [url:https\://pubmed.ncbi.nlm.nih.gov/34140661/] xref: MIM:619835 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0110003 ! 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia [Term] id: DOID:0081134 name: 3-methylglutaconic aciduria type 7b def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13." [url:https\://pubmed.ncbi.nlm.nih.gov/25597510/, url:https\://pubmed.ncbi.nlm.nih.gov/25597511/] xref: MIM:616271 is_a: DOID:0110003 ! 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia [Term] id: DOID:0081135 name: agammaglobulinemia 2 def: "An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11." [url:https\://pubmed.ncbi.nlm.nih.gov/32384040/] xref: MIM:613500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0081136 name: agammaglobulinemia 1 def: "An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32." [url:https\://pubmed.ncbi.nlm.nih.gov/32384040/] xref: MIM:601495 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0081137 name: agammaglobulinemia 3 def: "An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/32384040/] xref: MIM:613501 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0081138 name: agammaglobulinemia 6 def: "An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23." [url:https\://pubmed.ncbi.nlm.nih.gov/32384040/] xref: MIM:612692 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0081139 name: agammaglobulinemia 7 def: "An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13." [url:https\://pubmed.ncbi.nlm.nih.gov/32384040/] xref: MIM:615214 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0081140 name: agammaglobulinemia 8A def: "An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/32384040/] xref: MIM:616941 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0081141 name: agammaglobulinemia 9 def: "An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21." [url:https\://pubmed.ncbi.nlm.nih.gov/32384040/] xref: MIM:619693 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0081142 name: agammaglobulinemia 10 def: "An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11." [url:https\://pubmed.ncbi.nlm.nih.gov/32384040/] xref: MIM:619707 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0081143 name: agammaglobulinemia 8B def: "An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/32384040/] xref: MIM:619824 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0081144 name: common variable immunodeficiency 1 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33." [url:https\://pubmed.ncbi.nlm.nih.gov/19426217/] xref: MIM:607594 is_a: DOID:12177 ! common variable immunodeficiency [Term] id: DOID:0081145 name: common variable immunodeficiency 2 def: "A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/16007087/] xref: MIM:240500 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12177 ! common variable immunodeficiency [Term] id: DOID:0081146 name: common variable immunodeficiency 3 def: "A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/16672701/] xref: MIM:613493 is_a: DOID:12177 ! common variable immunodeficiency [Term] id: DOID:0081147 name: common variable immunodeficiency 4 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13." [url:https\://pubmed.ncbi.nlm.nih.gov/19666484/] xref: MIM:613494 is_a: DOID:12177 ! common variable immunodeficiency [Term] id: DOID:0081148 name: common variable immunodeficiency 5 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13." [url:https\://pubmed.ncbi.nlm.nih.gov/20038800/] xref: MIM:613495 is_a: DOID:12177 ! common variable immunodeficiency [Term] id: DOID:0081149 name: common variable immunodeficiency 6 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p." [url:https\://pubmed.ncbi.nlm.nih.gov/20237408/] xref: MIM:613496 is_a: DOID:12177 ! common variable immunodeficiency [Term] id: DOID:0081150 name: common variable immunodeficiency 7 def: "A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32." [url:https\://pubmed.ncbi.nlm.nih.gov/22035880/] xref: MIM:614699 is_a: DOID:12177 ! common variable immunodeficiency [Term] id: DOID:0081151 name: common variable immunodeficiency 8 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31." [url:https\://pubmed.ncbi.nlm.nih.gov/25468195/] synonym: "common variable immunodeficiency-8 (CVID8) with autoimmunity" EXACT [] xref: MIM:614700 is_a: DOID:12177 ! common variable immunodeficiency [Term] id: DOID:0081152 name: common variable immunodeficiency 10 def: "A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24." [url:https\://pubmed.ncbi.nlm.nih.gov/24140114/] xref: MIM:615577 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12177 ! common variable immunodeficiency [Term] id: DOID:0081153 name: common variable immunodeficiency 11 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27." [url:https\://pubmed.ncbi.nlm.nih.gov/24746753/] xref: MIM:615767 is_a: DOID:12177 ! common variable immunodeficiency [Term] id: DOID:0081154 name: common variable immunodeficiency 12 def: "A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24." [url:https\://pubmed.ncbi.nlm.nih.gov/32278790/] xref: MIM:616576 is_a: DOID:12177 ! common variable immunodeficiency [Term] id: DOID:0081155 name: common variable immunodeficiency 13 def: "A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12." [url:https\://pubmed.ncbi.nlm.nih.gov/26981933/] xref: MIM:616873 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12177 ! common variable immunodeficiency [Term] id: DOID:0081156 name: common variable immunodeficiency 14 def: "A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42." [url:https\://pubmed.ncbi.nlm.nih.gov/27016798/] xref: MIM:617765 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12177 ! common variable immunodeficiency [Term] id: DOID:0081157 name: dilated cardiomyopathy 1LL def: "A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36." [url:https\://pubmed.ncbi.nlm.nih.gov/23768516/] xref: MIM:615373 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0081158 name: dilated cardiomyopathy 1MM def: "A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11." [url:https\://pubmed.ncbi.nlm.nih.gov/21551322/] xref: MIM:615396 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0081159 name: dilated cardiomyopathy 2C def: "A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34." [url:https\://pubmed.ncbi.nlm.nih.gov/29754768/] xref: MIM:618189 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0081160 name: dilated cardiomyopathy 2D def: "A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13." [url:https\://pubmed.ncbi.nlm.nih.gov/32514796/] xref: MIM:619371 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0081161 name: dilated cardiomyopathy 2E def: "A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13." [url:https\://pubmed.ncbi.nlm.nih.gov/30384889/, url:https\://pubmed.ncbi.nlm.nih.gov/31227780/] xref: MIM:619492 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0081162 name: dilated cardiomyopathy 2F def: "A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32." [url:https\://pubmed.ncbi.nlm.nih.gov/35044787/] xref: MIM:619747 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0081163 name: dilated cardiomyopathy 2G def: "A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31." [url:https\://pubmed.ncbi.nlm.nih.gov/31517052/] xref: MIM:619897 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0081164 name: obsolete dilated cardiomyopathy 3B def: "A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21." [url:https\://pubmed.ncbi.nlm.nih.gov/3574369/] comment: Duplicate of older term. Use 'term replaced by'. [JAB] xref: MIM:302045 is_obsolete: true replaced_by: DOID:0110461 [Term] id: DOID:0081168 name: HMG-CoA synthase 2 deficiency def: "An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12." [url:https\://pubmed.ncbi.nlm.nih.gov/16601895/, url:https\://www.ncbi.nlm.nih.gov/articles/PMC5979369/] subset: DO_rare_slim synonym: "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency" EXACT [] xref: GARD:2712 xref: MIM:605911 xref: ORDO:35701 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0081169 name: Leber congenital amaurosis 19 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16." [url:https\://pubmed.ncbi.nlm.nih.gov/3057356/] xref: MIM:618513 is_a: DOID:14791 ! Leber congenital amaurosis property_value: exactMatch "MIM:618513" xsd:string [Term] id: DOID:0081175 name: short stature, hearing loss, retinitis pigmentosa, and distinctive facies def: "A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34." [url:https\://pubmed.ncbi.nlm.nih.gov/26843489/, url:https\://pubmed.ncbi.nlm.nih.gov/34162742/] subset: DO_rare_slim xref: MIM:617763 xref: ORDO:494439 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0081176 name: hypotonia, ataxia, and delayed development syndrome def: "A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26." [url:https\://pubmed.ncbi.nlm.nih.gov/28017370/, url:https\://pubmed.ncbi.nlm.nih.gov/34367240/, url:https\://www.ncbi.nlm.nih.gov/books/NBK570204/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC9092656/] xref: MIM:617330 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0081177 name: autosomal recessive intellectual developmental disorder 1 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25." [url:https\://pubmed.ncbi.nlm.nih.gov/12459588/] xref: MIM:249500 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081178 name: autosomal recessive intellectual developmental disorder 2 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26." [url:https\://pubmed.ncbi.nlm.nih.gov/28143899/] xref: MIM:607417 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081179 name: autosomal recessive intellectual developmental disorder 3 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/16033914/] xref: MIM:608443 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081180 name: autosomal recessive intellectual developmental disorder 12 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34." [url:https\://pubmed.ncbi.nlm.nih.gov/32666583/] xref: MIM:611090 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081181 name: autosomal recessive intellectual developmental disorder 5 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15." [url:https\://pubmed.ncbi.nlm.nih.gov/22541559/] xref: MIM:611091 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081182 name: autosomal recessive intellectual developmental disorder 6 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16." [url:https\://pubmed.ncbi.nlm.nih.gov/25039795/] xref: MIM:611092 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081183 name: autosomal recessive intellectual developmental disorder 7 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22." [url:https\://pubmed.ncbi.nlm.nih.gov/27148795/] xref: MIM:611093 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081184 name: autosomal recessive intellectual developmental disorder 9/26 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus." [url:https\://pubmed.ncbi.nlm.nih.gov/21629298/] xref: MIM:611095 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081185 name: autosomal recessive intellectual developmental disorder 10/20 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus." [url:https\://pubmed.ncbi.nlm.nih.gov/21629298/] xref: MIM:611096 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081186 name: autosomal recessive intellectual developmental disorder 11 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed MRT11. Haplotype analysis delineated a 5.4-Mb candidate region between SNPs rs2109075 and rs8101149." [url:https\://pubmed.ncbi.nlm.nih.gov/21063731/] xref: MIM:611097 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081187 name: autosomal recessive intellectual developmental disorder 4 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus, termed MRT4, on chromosome 1p21.1-p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/17309643/] xref: MIM:611107 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081188 name: autosomal recessive intellectual developmental disorder 14 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/18446860/] xref: MIM:614020 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081189 name: autosomal recessive intellectual developmental disorder 16 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16." [url:https\://pubmed.ncbi.nlm.nih.gov/20345473/] xref: MIM:614208 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081190 name: autosomal recessive intellectual developmental disorder 18 def: "An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23." [url:https\://pubmed.ncbi.nlm.nih.gov/25845469/] xref: MIM:614249 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081191 name: autosomal recessive intellectual developmental disorder 31 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 10.5-Mb region on proximal chromosome 4q between SNPs rs11944876 and rs6551838." [url:https\://pubmed.ncbi.nlm.nih.gov/21063731/] xref: MIM:614329 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081192 name: autosomal recessive intellectual developmental disorder 29 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. The interval spanned 52.2 Mb between SNPs rs1426138 and rs2055392." [url:https\://pubmed.ncbi.nlm.nih.gov/21063731/] xref: MIM:614333 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081193 name: autosomal recessive intellectual developmental disorder 27 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26." [url:https\://pubmed.ncbi.nlm.nih.gov/23773660/] xref: MIM:614340 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081194 name: autosomal recessive intellectual developmental disorder 33 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 Mb between SNPs rs1367950 and rs1826925." [url:https\://pubmed.ncbi.nlm.nih.gov/21063731/] xref: MIM:614341 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081195 name: autosomal recessive intellectual developmental disorder 30 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651." [url:https\://pubmed.ncbi.nlm.nih.gov/21629298/] xref: MIM:614342 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081196 name: autosomal recessive intellectual developmental disorder 23 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421." [url:https\://pubmed.ncbi.nlm.nih.gov/21629298/] xref: MIM:614344 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081197 name: autosomal recessive intellectual developmental disorder 24 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668." [url:https\://pubmed.ncbi.nlm.nih.gov/21629298/] xref: MIM:614345 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081198 name: autosomal recessive intellectual developmental disorder 25 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-Mb region on chromosome 12q between SNPs rs4760658 and rs1882033." [url:https\://pubmed.ncbi.nlm.nih.gov/21629298/] xref: MIM:614346 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081199 name: autosomal recessive intellectual developmental disorder 28 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs388609." [url:https\://pubmed.ncbi.nlm.nih.gov/21629298/] xref: MIM:614347 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081200 name: autosomal recessive intellectual developmental disorder 34 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22." [url:https\://pubmed.ncbi.nlm.nih.gov/27773430/] xref: MIM:614499 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081201 name: autosomal recessive intellectual developmental disorder 35 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258." [url:https\://pubmed.ncbi.nlm.nih.gov/20950399/] xref: MIM:615162 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081202 name: autosomal recessive intellectual developmental disorder 37 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21." [url:https\://pubmed.ncbi.nlm.nih.gov/29302074/] xref: MIM:615493 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081203 name: autosomal recessive intellectual developmental disorder 38 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13." [url:https\://pubmed.ncbi.nlm.nih.gov/23243086/] xref: MIM:615516 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081204 name: autosomal recessive intellectual developmental disorder 39 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12." [url:https\://pubmed.ncbi.nlm.nih.gov/23956177/] xref: MIM:615541 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081205 name: autosomal recessive intellectual developmental disorder 40 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24." [url:https\://pubmed.ncbi.nlm.nih.gov/34474177/] xref: MIM:615599 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081206 name: autosomal recessive intellectual developmental disorder 41 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/25847626/] xref: MIM:615637 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081207 name: autosomal recessive intellectual developmental disorder 43 def: "An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays." [url:https\://pubmed.ncbi.nlm.nih.gov/34599609/] xref: MIM:615817 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081208 name: autosomal recessive intellectual developmental disorder 44 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25." [url:https\://pubmed.ncbi.nlm.nih.gov/32439618/] xref: MIM:615942 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081209 name: autosomal recessive intellectual developmental disorder 45 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24." [url:https\://pubmed.ncbi.nlm.nih.gov/24623383/] xref: MIM:615979 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081210 name: autosomal recessive intellectual developmental disorder 46 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33." [url:https\://pubmed.ncbi.nlm.nih.gov/25125150/] xref: MIM:616116 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081211 name: autosomal recessive intellectual developmental disorder 47 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43." [url:https\://pubmed.ncbi.nlm.nih.gov/25480035/] xref: MIM:616193 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081212 name: autosomal recessive intellectual developmental disorder 48 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13." [url:https\://pubmed.ncbi.nlm.nih.gov/25704603/] xref: MIM:616269 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081213 name: autosomal recessive intellectual developmental disorder 50 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24." [url:https\://pubmed.ncbi.nlm.nih.gov/25701870/] xref: MIM:616460 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081214 name: autosomal recessive intellectual developmental disorder 51 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22." [url:https\://pubmed.ncbi.nlm.nih.gov/26206890/] xref: MIM:616739 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081215 name: autosomal recessive intellectual developmental disorder 52 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11." [url:https\://pubmed.ncbi.nlm.nih.gov/26566883/] xref: MIM:616887 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081216 name: autosomal recessive intellectual developmental disorder 54 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26." [url:https\://pubmed.ncbi.nlm.nih.gov/27106596/] xref: MIM:617028 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081217 name: autosomal recessive intellectual developmental disorder 56 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31." [url:https\://pubmed.ncbi.nlm.nih.gov/21734151/] xref: MIM:617125 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081218 name: autosomal recessive intellectual developmental disorder 74 def: "An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported." [url:https\://pubmed.ncbi.nlm.nih.gov/33161245/] xref: MIM:617169 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081219 name: autosomal recessive intellectual developmental disorder 57 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/27616480/] xref: MIM:617188 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081220 name: autosomal recessive intellectual developmental disorder 58 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12." [url:https\://pubmed.ncbi.nlm.nih.gov/33976153/] xref: MIM:617270 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081221 name: autosomal recessive intellectual developmental disorder 59 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21." [url:https\://pubmed.ncbi.nlm.nih.gov/26416544/] xref: MIM:617323 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081222 name: autosomal recessive intellectual developmental disorder 60 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13." [url:https\://pubmed.ncbi.nlm.nih.gov/28257693/] xref: MIM:617432 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081223 name: glycosylphosphatidylinositol biosynthesis defect 16 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23." [url:https\://pubmed.ncbi.nlm.nih.gov/27694521/] synonym: "Intellectual developmental disorder, autosomal recessive 62" EXACT [] xref: MIM:617816 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081224 name: autosomal recessive intellectual developmental disorder 63 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32." [url:https\://pubmed.ncbi.nlm.nih.gov/29784083/] xref: MIM:618095 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081225 name: autosomal recessive intellectual developmental disorder 64 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24." [url:https\://pubmed.ncbi.nlm.nih.gov/28837161/] xref: MIM:618103 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081226 name: autosomal recessive intellectual developmental disorder 65 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32." [url:https\://pubmed.ncbi.nlm.nih.gov/29276005/] xref: MIM:618109 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081227 name: autosomal recessive intellectual developmental disorder 66 def: "An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13." [url:https\://pubmed.ncbi.nlm.nih.gov/27311568/] xref: MIM:618221 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081228 name: autosomal recessive intellectual developmental disorder 67 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15." [url:https\://pubmed.ncbi.nlm.nih.gov/30409806/] xref: MIM:618295 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081229 name: autosomal recessive intellectual developmental disorder 68 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/30289604/] xref: MIM:618302 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081230 name: autosomal recessive intellectual developmental disorder 69 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12." [url:https\://pubmed.ncbi.nlm.nih.gov/29893856/] xref: MIM:618383 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081231 name: autosomal recessive intellectual developmental disorder 70 def: "An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25." [url:https\://pubmed.ncbi.nlm.nih.gov/28640246/] xref: MIM:618402 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081232 name: autosomal recessive intellectual developmental disorder 71 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22." [url:https\://pubmed.ncbi.nlm.nih.gov/31079898/] xref: MIM:618504 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081233 name: autosomal recessive intellectual developmental disorder 73 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11." [url:https\://pubmed.ncbi.nlm.nih.gov/34230638/] xref: MIM:619717 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081234 name: autosomal recessive intellectual developmental disorder 75 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15." [url:https\://pubmed.ncbi.nlm.nih.gov/34163010/] xref: MIM:619827 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081235 name: autosomal recessive intellectual developmental disorder 76 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33." [url:https\://pubmed.ncbi.nlm.nih.gov/35675825/] xref: MIM:619931 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081236 name: autosomal recessive intellectual developmental disorder 77 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36." [url:https\://pubmed.ncbi.nlm.nih.gov/34196201/] xref: MIM:619988 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081237 name: acromesomelic dysplasia-3 def: "An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22." [url:https\://pubmed.ncbi.nlm.nih.gov/26105076/] synonym: "Demirhan-type acromesomelic dysplasia" EXACT [] xref: MIM:609441 is_a: DOID:0080049 ! acromesomelic dysplasia [Term] id: DOID:0081238 name: acromesomelic dysplasia-4 def: "An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21." [url:https\://pubmed.ncbi.nlm.nih.gov/33106379/] xref: MIM:619636 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080049 ! acromesomelic dysplasia [Term] id: DOID:0081239 name: injection anthrax def: "An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores." [url:https\://pubmed.ncbi.nlm.nih.gov/29533547/, url:https\://www.cdc.gov/anthrax/basics/types/index.html] subset: DO_infectious_disease_slim synonym: "injectional anthrax" EXACT [] synonym: "injectional anthrax syndrome" EXACT [] is_a: DOID:7427 ! anthrax disease [Term] id: DOID:0081240 name: peroxisome biogenesis disorder 1B def: "A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21." [url:https\://pubmed.ncbi.nlm.nih.gov/22871920/, url:https\://pubmed.ncbi.nlm.nih.gov/28523433/] xref: MIM:601539 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0081241 name: peroxisome biogenesis disorder 3B def: "A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17." [url:https\://pubmed.ncbi.nlm.nih.gov/22871920/] xref: MIM:266510 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0081242 name: autoimmune interstitial lung, joint, and kidney disease def: "A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23." [url:https\://pubmed.ncbi.nlm.nih.gov/25894502/, url:https\://rarediseases.org/rare-diseases/copa-syndrome/] subset: DO_rare_slim synonym: "Autoimmune interstitial lung disease-arthritis syndrome" EXACT [] synonym: "COPA syndrome" EXACT [] xref: MIM:616414 xref: ORDO:444092 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:417 ! autoimmune disease [Term] id: DOID:0081243 name: rhizomelic chondrodysplasia punctate type 4 def: "A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency." [url:https\://pubmed.ncbi.nlm.nih.gov/28523433/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471318/] subset: DO_rare_slim xref: MIM:616154 xref: ORDO:438178 is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata [Term] id: DOID:0081244 name: pituitary blastoma def: "A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations." [url:https\://pubmed.ncbi.nlm.nih.gov/35291028/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Pituitary Gland Blastoma" EXACT [] xref: ICDO:8273/3 xref: NCI:C155304 is_a: DOID:0070003 ! blastoma is_a: DOID:1785 ! pituitary cancer [Term] id: DOID:0081245 name: cauda equina neuroendocrine tumor def: "A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina." [url:https\://radiopaedia.org/articles/spinal-neuroendocrine-tumour?lang=us] comment: Previously known as spinal paragangliomas. subset: DO_cancer_slim subset: NCIthesaurus synonym: "Cauda equina neuroendocrine tumour" EXACT [] synonym: "Spinal neuroendocrine tumors" EXACT [] xref: ICDO:8693/3 xref: NCI:C5324 is_a: DOID:4847 ! cauda equina neoplasm [Term] id: DOID:0081246 name: teratoma with somatic-type malignancy def: "A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874974/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9084/3 xref: NCI:C4289 is_a: DOID:3307 ! teratoma [Term] id: DOID:0081247 name: dedifferentiated chondrosarcoma def: "A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component." [url:https\://pubmed.ncbi.nlm.nih.gov/34734747/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9243/3 xref: NCI:C6476 is_a: DOID:3371 ! chondrosarcoma [Term] id: DOID:0081248 name: pineocytoma def: "An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation." [url:https\://rarediseases.org/gard-rare-disease/pineocytoma/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Pinealocytoma" EXACT [] synonym: "Pinealoma" EXACT [] xref: ICDO:9361/1 xref: NCI:C6966 is_a: DOID:0060089 ! endocrine organ benign neoplasm [Term] id: DOID:0081249 name: EWSR1-negative small round cell tumor def: "A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm." [url:https\://pubmed.ncbi.nlm.nih.gov/28346326/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "EWSR1-Negative Small Blue Round Cell Tumor" EXACT [] xref: NCI:C165671 is_a: DOID:3098 ! small cell sarcoma [Term] id: DOID:0081250 name: CIC-rearranged sarcoma def: "An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions." [url:https\://pubmed.ncbi.nlm.nih.gov/31288305/, url:https\://pubmed.ncbi.nlm.nih.gov/32796172/, url:https\://pubmed.ncbi.nlm.nih.gov/33680459/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Capicua transcriptional repressor (CIC)-rearranged sarcoma" EXACT [] xref: ICDO:9367/3 xref: NCI:C120224 is_a: DOID:0081249 ! EWSR1-negative small round cell tumor [Term] id: DOID:0081251 name: papillary tumor of the pineal region def: "A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture." [url:https\://pubmed.ncbi.nlm.nih.gov/29691144/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Papillary tumour of the pineal region" EXACT [] xref: ICDO:9395/3 xref: NCI:C92624 is_a: DOID:5032 ! pineal gland cancer [Term] id: DOID:0081252 name: supratentorial ependymoma, ZFTA fusion–positive def: "A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene." [url:https\://pubmed.ncbi.nlm.nih.gov/33879448/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9396/3 xref: NCI:C186350 is_a: DOID:0080890 ! supratentorial ependymoma [Term] id: DOID:0081253 name: supratentorial ependymoma, YAP1 fusion–positive def: "A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/33879448/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9396/3 xref: NCI:C186351 is_a: DOID:0080890 ! supratentorial ependymoma [Term] id: DOID:0081254 name: posterior fossa group A ependymoma def: "A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression." [url:https\://pubmed.ncbi.nlm.nih.gov/29909548/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Posterior Fossa Ependymoma, Group A (PFA)" EXACT [] synonym: "Posterior fossa group A (PFA) ependymoma" EXACT [] xref: ICDO:9396/3 xref: NCI:C186450 is_a: DOID:0080889 ! posterior fossa ependymoma [Term] id: DOID:0081255 name: posterior fossa group B ependymoma def: "A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression." [url:https\://pubmed.ncbi.nlm.nih.gov/33902636/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Posterior Fossa Ependymoma, Group B (PFB)" EXACT [] synonym: "Posterior fossa group B (PFB) ependymoma" EXACT [] xref: ICDO:9396/3 xref: NCI:C186451 is_a: DOID:0080889 ! posterior fossa ependymoma [Term] id: DOID:0081256 name: astrocytoma, IDH-mutant, grade 2 def: "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system." [url:https\://pubmed.ncbi.nlm.nih.gov/35902341/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9400/3 xref: NCI:C129271 is_a: DOID:0080875 ! IDH-mutant anaplastic astrocytoma [Term] id: DOID:0081257 name: astrocytoma, IDH-mutant, grade 3 def: "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features." [url:https\://pubmed.ncbi.nlm.nih.gov/34377594/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9401/3 xref: NCI:C129290 is_a: DOID:0080875 ! IDH-mutant anaplastic astrocytoma [Term] id: DOID:0081259 name: desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma def: "A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells." [url:https\://pubmed.ncbi.nlm.nih.gov/31223403/, url:https\://pubmed.ncbi.nlm.nih.gov/35015431/] comment: WHO combines desmophlastic infantile ganglioglioma and desmoplastic infantile astrocytoma. subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "Desmoplastic Infantile Astrocytoma" EXACT [] synonym: "desmoplastic infantile ganglioglioma" EXACT [] synonym: "desmoplastic infantile ganglioglioma and desmoplastic infantile astrocytoma" EXACT [] xref: ICDO:9412/1 xref: NCI:C4738 xref: NCI:C9476 is_a: DOID:5078 ! ganglioglioma [Term] id: DOID:0081260 name: diffuse low-grade glioma, MAPK pathway–altered def: "A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma." [url:https\://pubmed.ncbi.nlm.nih.gov/35562133/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9421/1 xref: NCI:C185218 is_a: DOID:0080829 ! low grade glioma [Term] id: DOID:0081261 name: angiocentric glioma def: "A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation." [url:https\://pubmed.ncbi.nlm.nih.gov/34863434/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9431/1 xref: NCI:C92552 is_a: DOID:0080829 ! low grade glioma [Term] id: DOID:0081262 name: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/34314705/] xref: KEGG:H02463 xref: MIM:619556 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0081263 name: neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13." [url:https\://pubmed.ncbi.nlm.nih.gov/35861185/] synonym: "NEDMCR syndrome" EXACT [] xref: MIM:617913 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081264 name: developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome def: "A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R)." [url:https\://pubmed.ncbi.nlm.nih.gov/33474647/] is_a: DOID:225 ! syndrome [Term] id: DOID:0081265 name: intellectual developmental disorder with abnormal behavior, microcephaly, and short stature def: "An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22." [url:https\://pubmed.ncbi.nlm.nih.gov/31583274/, url:https\://pubmed.ncbi.nlm.nih.gov/35144859/] synonym: "IDDBAS" EXACT OMO:0003012 [] xref: MIM:618342 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081266 name: pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures def: "A lissencephaly that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26." [url:https\://pubmed.ncbi.nlm.nih.gov/31630790/, url:https\://pubmed.ncbi.nlm.nih.gov/36078134/] synonym: "PAMDDFS" EXACT OMO:0003012 [] xref: MIM:618737 is_a: DOID:0050453 ! lissencephaly [Term] id: DOID:0081267 name: graft-versus-host disease def: "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32." [url:https\://pubmed.ncbi.nlm.nih.gov/31466596/, url:https\://www.ncbi.nlm.nih.gov/books/NBK538235/] subset: DO_rare_slim synonym: "graft versus host disease" EXACT [] synonym: "GvHD" EXACT OMO:0003012 [] xref: ICD11:4B24 xref: MESH:D006086 xref: MIM:614395 xref: ORDO:39812 is_a: DOID:2914 ! immune system disease [Term] id: DOID:0081268 name: pulmonary venoocclusive disease 1 def: "A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33." [url:https\://pubmed.ncbi.nlm.nih.gov/18626305/] xref: MIM:265450 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5453 ! pulmonary venoocclusive disease [Term] id: DOID:0081269 name: pulmonary venoocclusive disease 2 def: "A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation." [url:https\://pubmed.ncbi.nlm.nih.gov/24292273/] synonym: "FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS" EXACT [] xref: MIM:234810 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5453 ! pulmonary venoocclusive disease [Term] id: DOID:0081270 name: Smith-McCort dysplasia 1 def: "A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21." [url:https\://pubmed.ncbi.nlm.nih.gov/9295067/] xref: MIM:607326 is_a: DOID:0060247 ! Smith-McCort dysplasia [Term] id: DOID:0081271 name: Smith-McCort dysplasia 2 def: "A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31." [url:https\://pubmed.ncbi.nlm.nih.gov/23042644/] xref: MIM:615222 is_a: DOID:0060247 ! Smith-McCort dysplasia [Term] id: DOID:0081272 name: Sandestig-Stefanova syndrome def: "A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34." [url:https\://pubmed.ncbi.nlm.nih.gov/32021605/, url:https\://pubmed.ncbi.nlm.nih.gov/36158057/] xref: MIM:618804 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0081273 name: Siddiqi syndrome def: "A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13." [url:https\://pubmed.ncbi.nlm.nih.gov/28067622/, url:https\://pubmed.ncbi.nlm.nih.gov/30214770/, url:https\://pubmed.ncbi.nlm.nih.gov/35754111/] xref: MIM:618635 is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:0081274 name: peroxisome biogenesis disorder 14B def: "A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21." [url:https\://pubmed.ncbi.nlm.nih.gov/22581968/, url:https\://pubmed.ncbi.nlm.nih.gov/31724321/] xref: MIM:614920 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0081275 name: neurodevelopmental disorder with eye movement abnormalities and ataxia def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties." [url:https\://pubmed.ncbi.nlm.nih.gov/36206744/] synonym: "NEDEMA" EXACT OMO:0003012 [] xref: MIM:620094 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0081276 name: cerebellar atrophy, visual impairment, and psychomotor retardation def: "A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36." [url:https\://disorders.eyes.arizona.edu/disorders/cerebellar-atrophy-visual-impairment-and-psychomotor-retardation, url:https\://pubmed.ncbi.nlm.nih.gov/26942288/, url:https\://pubmed.ncbi.nlm.nih.gov/29271071/, url:https\://pubmed.ncbi.nlm.nih.gov/35234901/] subset: DO_rare_slim synonym: "CAVIPMR" EXACT OMO:0003012 [] xref: MIM:616875 xref: ORDO:480898 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0081277 name: diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype def: "A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations." [url:https\://pubmed.ncbi.nlm.nih.gov/34858308/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype" EXACT [] xref: ICDO:9385/3 xref: NCI:C185467 is_a: DOID:3070 ! high grade glioma [Term] id: DOID:0081278 name: infant-type hemispheric glioma def: "A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood." [url:https\://pubmed.ncbi.nlm.nih.gov/35404193/, url:https\://pubmed.ncbi.nlm.nih.gov/36315913/, url:https\://pubmed.ncbi.nlm.nih.gov/36316040/] subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: ICDO:9385/3 xref: NCI:C185471 is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:0081279 name: diffuse astrocytoma, MYB- or MYBL1-altered def: "A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1." [url:https\://pubmed.ncbi.nlm.nih.gov/35015431/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9421/1 xref: NCI:C185196 is_a: DOID:4857 ! diffuse astrocytoma [Term] id: DOID:0081280 name: pituicytoma def: "A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements." [url:https\://en.wikipedia.org/wiki/Pituicytoma, url:https\://pubmed.ncbi.nlm.nih.gov/36057248/, url:https\://pubmed.ncbi.nlm.nih.gov/36180358/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9432/1 xref: NCI:C94524 is_a: DOID:5048 ! posterior pituitary gland neoplasm [Term] id: DOID:0081281 name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 def: "An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis)." [url:https\://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html] subset: DO_cancer_slim xref: ICDO:9450/3 is_a: DOID:0080882 ! IDH-mutant and 1p/19q-codeleted oligodendroglioma [Term] id: DOID:0081282 name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 def: "An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas." [url:https\://www.abta.org/tumor_types/oligodendroglioma/, url:https\://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html] subset: DO_cancer_slim xref: ICDO:9451/3 is_a: DOID:0080882 ! IDH-mutant and 1p/19q-codeleted oligodendroglioma [Term] id: DOID:0081283 name: papillary glioneuronal tumor def: "A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae." [url:https\://pubmed.ncbi.nlm.nih.gov/35854961/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Papillary glioneuronal tumour" EXACT [] xref: ICDO:9509/1 xref: NCI:C92554 is_a: DOID:0060090 ! central nervous system benign neoplasm [Term] id: DOID:0081284 name: rosette-forming glioneuronal tumor def: "A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers." [url:https\://pubmed.ncbi.nlm.nih.gov/36230557/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "RGNT" EXACT OMO:0003012 [] synonym: "Rosette-forming glioneuronal tumour" EXACT [] xref: ICDO:9509/1 xref: NCI:C129431 is_a: DOID:0060090 ! central nervous system benign neoplasm [Term] id: DOID:0081285 name: myxoid glioneuronal tumor def: "A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma." [url:https\://pubmed.ncbi.nlm.nih.gov/34297434/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Myxoid glioneuronal tumour" EXACT [] xref: ICDO:9509/1 xref: NCI:C179229 is_a: DOID:0060090 ! central nervous system benign neoplasm [Term] id: DOID:0081286 name: embryonal tumor with multilayered rosettes def: "A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation." [url:https\://pubmed.ncbi.nlm.nih.gov/36451902/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Embryonal tumour with multilayered rosettes" EXACT [] xref: ICDO:9478/3 xref: NCI:C186534 is_a: DOID:0060103 ! central nervous system embryonal tumor [Term] id: DOID:0081287 name: white sponge nevus 1 def: "A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13." [url:https\://pubmed.ncbi.nlm.nih.gov/7493030/] xref: MIM:193900 is_a: DOID:0050448 ! white sponge nevus is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0081288 name: white sponge nevus 2 def: "A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21." [url:https\://pubmed.ncbi.nlm.nih.gov/14600690/] xref: MIM:615785 is_a: DOID:0050448 ! white sponge nevus is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0081289 name: Antley-Bixler syndrome def: "A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period." [url:https\://rarediseases.org/rare-diseases/antley-bixler-syndrome/] subset: DO_rare_slim synonym: "Antley and Bixler's syndrome" EXACT [] synonym: "Antley Bixler syndrome" EXACT [] xref: GARD:5826 is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:0081290 name: Antley-Bixler syndrome without disordered steroidogenesis def: "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." [url:https\://pubmed.ncbi.nlm.nih.gov/15793702/] xref: MIM:207410 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081289 ! Antley-Bixler syndrome [Term] id: DOID:0081291 name: chronic traumatic encephalopathy def: "A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves." [url:https\://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-021-01189-4, url:https\://pubmed.ncbi.nlm.nih.gov/33621530/, url:https\://www.nature.com/articles/s41586-019-1026-5] is_a: DOID:680 ! tauopathy [Term] id: DOID:0081292 name: traumatic brain injury def: "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head." [url:https\://www.ncbi.nlm.nih.gov/books/NBK459300/] is_a: DOID:936 ! brain disease [Term] id: DOID:0081293 name: salivary gland mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in the salivary gland." [url:https\://www.pathologyoutlines.com/topic/salivaryglandsMEC.html] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C5908 is_a: DOID:0050904 ! salivary gland carcinoma is_a: DOID:4531 ! mucoepidermoid carcinoma [Term] id: DOID:0081294 name: neuronal intranuclear inclusion disease def: "A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21." [url:https\://pubmed.ncbi.nlm.nih.gov/27797808/] xref: MIM:603472 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:0081295 name: essential tremor 6 def: "An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21." [url:https\://pubmed.ncbi.nlm.nih.gov/31819945/] xref: MIM:618866 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4990 ! essential tremor [Term] id: DOID:0081296 name: oculopharyngodistal myopathy def: "A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities." [url:https\://jnnp.bmj.com/content/75/10/1499] subset: DO_rare_slim xref: GARD:12592 xref: MIM:PS164310 xref: ORDO:98897 is_a: DOID:423 ! myopathy [Term] id: DOID:0081297 name: oculopharyngodistal myopathy 1 def: "An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22." [url:https\://pubmed.ncbi.nlm.nih.gov/31332380/] xref: MIM:164310 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081296 ! oculopharyngodistal myopathy [Term] id: DOID:0081298 name: oculopharyngodistal myopathy 2 def: "An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/32413282/] xref: MIM:618940 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081296 ! oculopharyngodistal myopathy [Term] id: DOID:0081299 name: oculopharyngodistal myopathy 3 def: "An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21." [url:https\://pubmed.ncbi.nlm.nih.gov/33693509/] xref: MIM:619473 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081296 ! oculopharyngodistal myopathy [Term] id: DOID:0081300 name: oculopharyngodistal myopathy 4 def: "An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24." [url:https\://pubmed.ncbi.nlm.nih.gov/35148830/] xref: MIM:619790 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081296 ! oculopharyngodistal myopathy [Term] id: DOID:0081301 name: intellectual developmental disorder with ocular anomalies and distinctive facial features def: "A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22." [url:https\://pubmed.ncbi.nlm.nih.gov/36067766/] synonym: "IDDOF" EXACT OMO:0003012 [] synonym: "MTSS2-related neurodevelopmental disorder" EXACT [] xref: MIM:620086 is_a: DOID:0050888 ! syndromic intellectual disability [Term] id: DOID:0081302 name: diffuse leptomeningeal glioneuronal tumor def: "A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma." [url:https\://radiopaedia.org/articles/diffuse-leptomeningeal-glioneuronal-tumour?lang=us] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Diffuse leptomeningeal glioneuronal tumour" EXACT [] xref: ICDO:9509/3 xref: NCI:C129424 is_a: DOID:0060090 ! central nervous system benign neoplasm [Term] id: DOID:0081303 name: multinodular and vacuolating neuronal tumor def: "A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres." [url:https\://radiopaedia.org/articles/multinodular-and-vacuolating-neuronal-tumour-1?lang=us] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9509/0 xref: NCI:C129427 is_a: DOID:0060090 ! central nervous system benign neoplasm [Term] id: DOID:0081304 name: high-grade astrocytoma with piloid features def: "An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa." [url:https\://radiopaedia.org/articles/high-grade-astrocytoma-with-piloid-features-1?lang=us, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC8131327/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9421/3 xref: NCI:C185879 is_a: DOID:3078 ! anaplastic astrocytoma [Term] id: DOID:0081305 name: polymorphous low grade neuroepithelial tumour of the young def: "A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy." [url:https\://journals.sagepub.com/doi/full/10.1177/20363613221083360] subset: NCIthesaurus synonym: "Massively Calcified Low Grade Glioma" EXACT [] synonym: "Polymorphous low-grade neuroepithelial tumour of the young" EXACT [] xref: ICDO:9413/0 xref: NCI:C180378 is_a: DOID:0060090 ! central nervous system benign neoplasm [Term] id: DOID:0081306 name: spindle cell oncocytoma def: "A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486883/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8290/0 xref: NCI:C94537 is_a: DOID:5048 ! posterior pituitary gland neoplasm [Term] id: DOID:0081307 name: lymphomatoid granulomatosis def: "A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues." [url:https\://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICD10CM:C83.8 xref: ICDO:9766/1 xref: MESH:D008230 xref: NCI:C7930 xref: SNOMEDCT_US_2023_03_01:60337005 xref: UMLS_CUI:C0024307 is_a: DOID:0060704 ! lymphoproliferative syndrome [Term] id: DOID:0081308 name: grade I lymphomatoid granulomatosis def: "A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen." [url:https\://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources] subset: NCIthesaurus xref: ICDO:9766/1 xref: NCI:C7931 xref: UMLS_CUI:C0279065 is_a: DOID:0081307 ! lymphomatoid granulomatosis [Term] id: DOID:0081309 name: grade II lymphomatoid granulomatosis def: "A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen." [url:https\://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources] xref: ICDO:9766/1 is_a: DOID:0081307 ! lymphomatoid granulomatosis [Term] id: DOID:0081310 name: grade III lymphomatoid granulomatosis def: "A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive." [url:https\://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources] xref: ICDO:9766/3 is_a: DOID:0081307 ! lymphomatoid granulomatosis [Term] id: DOID:0081311 name: intravascular large B-cell lymphoma def: "A large B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries." [url:https\://ashpublications.org/blood/article/132/15/1561/39314/Intravascular-large-B-cell-lymphoma-a-chameleon] subset: NCIthesaurus xref: ICDO:9712/3 xref: NCI:C4342 is_a: DOID:0081452 ! large B-cell lymphoma [Term] id: DOID:0081312 name: T-cell non-Hodgkin lymphoma def: "A non-Hodgkin lymphoma of T-cell lineage." [url:https\://www.cancer.org/cancer/non-hodgkin-lymphoma/treating/t-cell-lymphoma.html] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9702/3 xref: MESH:D016399 xref: NCI:C3466 xref: SNOMEDCT_US_2023_03_01:3172003 xref: UMLS_CUI:C0079772 is_a: DOID:0060060 ! non-Hodgkin lymphoma [Term] id: DOID:0081313 name: primary diffuse large B-cell lymphoma of the central nervous system def: "A diffuse large B-cell lymphoma arising from the central nervous system." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840863/] subset: NCIthesaurus xref: ICDO:9680/3 xref: NCI:C71720 xref: SNOMEDCT_US_2023_03_01:734066005 xref: UMLS_CUI:C2026186 is_a: DOID:0050745 ! diffuse large B-cell lymphoma [Term] id: DOID:0081314 name: extraventricular neurocytoma def: "A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles." [url:https\://pubmed.ncbi.nlm.nih.gov/24357019/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9506/1 xref: NCI:C92555 is_a: DOID:3541 ! cerebral ventricle cancer [Term] id: DOID:0081315 name: central nervous system tumor with BCOR internal tandem duplication def: "A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene." [url:https\://pubmed.ncbi.nlm.nih.gov/35809497/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "CNS tumour with BCOR internal tandem duplication" EXACT [] xref: ICDO:9500/3 xref: NCI:C186556 is_a: DOID:0060103 ! central nervous system embryonal tumor [Term] id: DOID:0081316 name: primary intracranial sarcoma, DICER1-mutant def: "A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/35789272/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9480/3 xref: NCI:C186610 is_a: DOID:2132 ! brain sarcoma [Term] id: DOID:0081317 name: multiple synostoses syndrome 1 def: "A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22." [url:https\://pubmed.ncbi.nlm.nih.gov/11846737/] subset: DO_rare_slim xref: GARD:3836 xref: MIM:186500 is_a: DOID:0050794 ! multiple synostoses syndrome [Term] id: DOID:0081318 name: multiple synostoses syndrome 2 def: "A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11." [url:https\://pubmed.ncbi.nlm.nih.gov/16532400/] subset: DO_rare_slim xref: GARD:9916 xref: MIM:610017 is_a: DOID:0050794 ! multiple synostoses syndrome [Term] id: DOID:0081319 name: multiple synostoses syndrome 3 def: "A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12." [url:https\://pubmed.ncbi.nlm.nih.gov/28730625/] subset: DO_rare_slim xref: MIM:612961 is_a: DOID:0050794 ! multiple synostoses syndrome [Term] id: DOID:0081320 name: multiple synostoses syndrome 4 def: "A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22." [url:https\://pubmed.ncbi.nlm.nih.gov/29130651/] subset: DO_rare_slim xref: MIM:617898 is_a: DOID:0050794 ! multiple synostoses syndrome [Term] id: DOID:0081321 name: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A def: "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13." [url:https\://pubmed.ncbi.nlm.nih.gov/29805041/] subset: DO_rare_slim synonym: "Autosomal dominant multiple pterygium syndrome" EXACT [] xref: MIM:178110 xref: ORDO:65743 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080110 ! contractures, pterygia, and spondylocarpotarsal fusion syndrome [Term] id: DOID:0081322 name: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B def: "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13." [url:https\://pubmed.ncbi.nlm.nih.gov/29805041/] subset: DO_rare_slim synonym: "Autosomal recessive multiple pterygium syndrome" EXACT [] xref: GARD:7111 xref: MIM:618469 xref: ORDO:2990 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080110 ! contractures, pterygia, and spondylocarpotarsal fusion syndrome [Term] id: DOID:0081323 name: breast implant illness def: "A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression." [url:https\://www.fda.gov/medical-devices/breast-implants/medical-device-reports-systemic-symptoms-women-breast-implants, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC9060741/] is_a: DOID:225 ! syndrome is_a: DOID:3463 ! breast disease [Term] id: DOID:0081324 name: neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss def: "An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32." [url:https\://pubmed.ncbi.nlm.nih.gov/35861243/] synonym: "NEDGTH" EXACT OMO:0003012 [] xref: MIM:620071 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081325 name: developmental and epileptic encephalopathy 94 def: "A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26." [url:https\://pubmed.ncbi.nlm.nih.gov/23708187/] xref: MIM:615369 is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0081326 name: oxoglutarate dehydrogenase deficiency def: "An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13." [url:https\://pubmed.ncbi.nlm.nih.gov/32383294/] subset: DO_rare_slim synonym: "alpha-ketoglutarate dehydrogenase deficiency" EXACT [] synonym: "Oxoglutaric aciduria" EXACT [] xref: GARD:617 xref: MIM:203740 xref: ORDO:31 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0081327 name: neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures def: "A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24." [url:https\://pubmed.ncbi.nlm.nih.gov/30057031/, url:https\://pubmed.ncbi.nlm.nih.gov/30166628/, url:https\://rarediseases.org/gard-rare-disease/irf2bpl-related-disorders/, url:https\://www.bcm.edu/news/wnt-signaling-is-identified-as-a-target-in-nedamss-disorder, url:https\://www.childneurologyfoundation.org/disorder/irf2bpl/] synonym: "NEDAMSS" EXACT OMO:0003012 [] xref: MIM:618088 is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:0081328 name: familial hyperinsulinemic hypoglycemia 8 def: "A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23." [url:https\://pubmed.ncbi.nlm.nih.gov/34971397/] xref: MIM:620211 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0081329 name: glycogen storage disease I def: "A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas." [url:https\://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I, url:https\://www.ncbi.nlm.nih.gov/books/NBK1312/, url:https\://www.omim.org/entry/232200#33] subset: DO_rare_slim subset: NCIthesaurus synonym: "deficiency of glucose-6-phosphatase" EXACT [] synonym: "Glycogen storage disease 1" EXACT [] synonym: "glycogen storage disease type I" EXACT [] synonym: "glycogenosis type I" EXACT [] synonym: "von Gierke disease" EXACT [] synonym: "von Gierke's disease" EXACT [] xref: ICD10CM:E74.01 xref: MESH:D005953 xref: NCI:C84733 xref: ORDO:364 xref: SNOMEDCT_US_2023_03_01:7265005 xref: UMLS_CUI:C0017920 is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:0081330 name: glycogen storage disease Ib def: "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23." [url:https\://pubmed.ncbi.nlm.nih.gov/31536830/] xref: MIM:232220 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081329 ! glycogen storage disease I [Term] id: DOID:0081331 name: glycogen storage disease Ic def: "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib." [url:https\://pubmed.ncbi.nlm.nih.gov/10598822/] xref: MIM:232240 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081329 ! glycogen storage disease I [Term] id: DOID:0081332 name: progeroid syndrome def: "A syndrome that is characterized by the premature onset of age-related pathologies." [url:https\://pubmed.ncbi.nlm.nih.gov/34272172/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958309/] synonym: "progeroid disease" EXACT [] synonym: "progeroid syndromes" EXACT [] xref: MIM:PS176670 is_a: DOID:225 ! syndrome [Term] id: DOID:0081333 name: Wiedemann-Rautenstrauch syndrome def: "A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22." [url:https\://medlineplus.gov/genetics/condition/wiedemann-rautenstrauch-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/23696134/] subset: DO_rare_slim synonym: "Neonatal progeroid syndrome" EXACT [] synonym: "PROGEROID SYNDROME, NEONATAL" EXACT [] xref: GARD:330 xref: MIM:264090 xref: ORDO:3455 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081332 ! progeroid syndrome [Term] id: DOID:0081334 name: Nestor-Guillermo progeria syndrome def: "A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age." [url:https\://pubmed.ncbi.nlm.nih.gov/32783369/] subset: DO_rare_slim synonym: "Progeria syndrome, childhood-onset, with osteolysis" EXACT [] xref: GARD:11008 xref: MIM:614008 xref: ORDO:280576 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081332 ! progeroid syndrome [Term] id: DOID:0081335 name: Becker disease def: "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34." [url:https\://pubmed.ncbi.nlm.nih.gov/8301644/] xref: MIM:255300 xref: MIM:255700 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2106 ! myotonia congenita property_value: exactMatch "MIM:255700" xsd:string [Term] id: DOID:0081336 name: Thomsen disease def: "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34." [url:https\://pubmed.ncbi.nlm.nih.gov/11840191/] synonym: "Congenital myotonia, autosomal dominant form" EXACT [] synonym: "Thomsen's disease" EXACT [] xref: MIM:160800 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2106 ! myotonia congenita [Term] id: DOID:0081337 name: congenital myopathy def: "A myopathy that is characterized by hypotonia and weakness, usually present from birth." [url:https\://ijponline.biomedcentral.com/articles/10.1186/s13052-017-0419-z] is_a: DOID:423 ! myopathy [Term] id: DOID:0081338 name: myofibrillar myopathy 11 def: "A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11." [url:https\://pubmed.ncbi.nlm.nih.gov/33217308/] xref: MIM:619178 is_a: DOID:0080307 ! myofibrillar myopathy [Term] id: DOID:0081339 name: congenital myopathy 2B def: "A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42." [url:https\://pubmed.ncbi.nlm.nih.gov/25182138/] xref: MIM:620265 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081340 name: congenital myopathy 2C def: "A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B)." [url:https\://pubmed.ncbi.nlm.nih.gov/34561123/] xref: MIM:620278 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081341 name: congenital myopathy 5 def: "A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31." [url:https\://pubmed.ncbi.nlm.nih.gov/24105469/] subset: DO_rare_slim synonym: "congenital myopathy-5 with cardiomyopathy" EXACT [] synonym: "Salih myopathy" EXACT [] xref: MIM:611705 xref: ORDO:289377 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081342 name: congenital myopathy 8 def: "A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe." [url:https\://pubmed.ncbi.nlm.nih.gov/30701273/] xref: MIM:618654 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081343 name: congenital myopathy 9A def: "A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28." [url:https\://pubmed.ncbi.nlm.nih.gov/30770808/] xref: MIM:618822 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081344 name: congenital myopathy 9B def: "A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A." [url:https\://pubmed.ncbi.nlm.nih.gov/30770808/] xref: MIM:618823 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081345 name: congenital myopathy 10B def: "A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features." [url:https\://pubmed.ncbi.nlm.nih.gov/29128256/] xref: MIM:620249 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081346 name: congenital myopathy 14 def: "A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time." [url:https\://pubmed.ncbi.nlm.nih.gov/30215711/] subset: DO_rare_slim xref: MIM:618414 xref: ORDO:544602 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081347 name: congenital myopathy 15 def: "A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding." [url:https\://pubmed.ncbi.nlm.nih.gov/33755597/] xref: MIM:620161 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081348 name: congenital myopathy 16 def: "A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs." [url:https\://pubmed.ncbi.nlm.nih.gov/31025394/] xref: MIM:618524 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081349 name: congenital myopathy 17 def: "A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15." [url:https\://pubmed.ncbi.nlm.nih.gov/30403323/] xref: MIM:618975 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081350 name: congenital myopathy 18 def: "A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32." [url:https\://pubmed.ncbi.nlm.nih.gov/33060286/, url:https\://pubmed.ncbi.nlm.nih.gov/34763287/] xref: MIM:620246 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081351 name: congenital myopathy 19 def: "A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36." [url:https\://pubmed.ncbi.nlm.nih.gov/31092906/] xref: MIM:618578 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081352 name: congenital myopathy 20 def: "A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures." [url:https\://pubmed.ncbi.nlm.nih.gov/29498452/, url:https\://pubmed.ncbi.nlm.nih.gov/31230720/] xref: MIM:620310 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081353 name: congenital myopathy 21 def: "A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31." [url:https\://pubmed.ncbi.nlm.nih.gov/36264506/, url:https\://pubmed.ncbi.nlm.nih.gov/36344539/] xref: MIM:620326 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081354 name: congenital myopathy 22A def: "A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B." [url:https\://pubmed.ncbi.nlm.nih.gov/26700687/] xref: MIM:620351 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081355 name: congenital myopathy 22B def: "A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23." [url:https\://pubmed.ncbi.nlm.nih.gov/26700687/] xref: MIM:620369 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0081356 name: spinal muscular atrophy, Jokela type def: "A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11." [url:https\://pubmed.ncbi.nlm.nih.gov/36158221/, url:https\://www.ncbi.nlm.nih.gov/books/NBK304142/] subset: DO_rare_slim xref: MIM:615048 xref: ORDO:276435 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0081357 name: isolated mitochondrial myopathy def: "A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11." [url:https\://pubmed.ncbi.nlm.nih.gov/35700042/] subset: DO_rare_slim synonym: "Autosomal dominant mitochondrial myopathy with exercise intolerance" EXACT [] xref: MIM:616209 xref: ORDO:457050 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:0081358 name: epidermolytic hyperkeratosis 1 def: "An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13." [url:https\://pubmed.ncbi.nlm.nih.gov/11531804/] subset: DO_rare_slim xref: MIM:113800 xref: ORDO:312 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4603 ! epidermolytic hyperkeratosis [Term] id: DOID:0081359 name: epidermolytic hyperkeratosis 2 def: "An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21." [url:https\://pubmed.ncbi.nlm.nih.gov/19474805/] xref: MIM:620150 is_a: DOID:4603 ! epidermolytic hyperkeratosis [Term] id: DOID:0081360 name: spastic quadriplegic cerebral palsy 2 def: "A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele." [url:https\://pubmed.ncbi.nlm.nih.gov/16301218/] xref: MIM:612900 is_a: DOID:10970 ! spastic quadriplegic cerebral palsy [Term] id: DOID:0081361 name: spastic quadriplegic cerebral palsy 3 def: "A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24." [url:https\://pubmed.ncbi.nlm.nih.gov/23836506/] synonym: "CPSQ3" EXACT OMO:0003012 [] xref: MIM:617008 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10970 ! spastic quadriplegic cerebral palsy [Term] id: DOID:0081362 name: Pierpont syndrome def: "An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26." [url:https\://pubmed.ncbi.nlm.nih.gov/26769062/, url:https\://www.ncbi.nlm.nih.gov/articles/PMC8077337/] subset: DO_rare_slim synonym: "Plantar lipomatosis-facial dysmorphism-developmental delay syndrome" EXACT [] synonym: "Plantar lipomatosis-unusual facies-developmental delay syndrome" EXACT [] xref: MIM:602342 xref: ORDO:487825 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0081363 name: distal myopathy with rimmed vacuoles def: "A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35." [url:https\://pubmed.ncbi.nlm.nih.gov/25114083/, url:https\://pubmed.ncbi.nlm.nih.gov/26208961/, url:https\://pubmed.ncbi.nlm.nih.gov/33125541/, url:https\://pubmed.ncbi.nlm.nih.gov/37188302/, url:https\://pubmed.ncbi.nlm.nih.gov/37205240/] subset: DO_rare_slim xref: MIM:617158 xref: ORDO:602 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0081364 name: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset def: "A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35." [url:https\://pubmed.ncbi.nlm.nih.gov/27545679/] xref: MIM:617145 is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:0081365 name: Paget's disease of bone 2 def: "A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21." [url:https\://pubmed.ncbi.nlm.nih.gov/24988994/] synonym: "Paget disease of bone-2" EXACT [] xref: MIM:602080 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5408 ! Paget's disease of bone [Term] id: DOID:0081366 name: Paget's disease of bone 3 def: "A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35." [url:https\://pubmed.ncbi.nlm.nih.gov/24988994/] synonym: "Paget disease of bone-3" EXACT [] xref: MIM:167250 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5408 ! Paget's disease of bone [Term] id: DOID:0081367 name: Paget's disease of bone 4 def: "A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972." [url:https\://pubmed.ncbi.nlm.nih.gov/11473345/] synonym: "Paget disease of bone-4" EXACT [] xref: MIM:606263 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5408 ! Paget's disease of bone [Term] id: DOID:0081368 name: Paget's disease of bone 5 def: "A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24." [url:https\://pubmed.ncbi.nlm.nih.gov/25108083/] subset: DO_rare_slim synonym: "Familial osteoectasia" EXACT [] synonym: "Hereditary hyperphosphatasia" EXACT [] synonym: "Hyperostosis corticalis deformans juvenilis" EXACT [] synonym: "Juvenile Paget disease" EXACT [] synonym: "Paget disease of bone-5" EXACT [] xref: GARD:2831 xref: MIM:239000 xref: ORDO:2801 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5408 ! Paget's disease of bone [Term] id: DOID:0081369 name: Paget's disease of bone 6 def: "A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21." [url:https\://pubmed.ncbi.nlm.nih.gov/26849110/] synonym: "Paget disease of bone-6" EXACT [] xref: MIM:616833 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5408 ! Paget's disease of bone [Term] id: DOID:0081370 name: LADD syndrome def: "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." [url:https\://medlineplus.gov/genetics/condition/lacrimo-auriculo-dento-digital-syndrome/] subset: DO_rare_slim synonym: "Lacrimo-auriculo-dento-digital (LADD) syndrome" EXACT [] synonym: "lacrimoauriculodentodigital syndrome" EXACT [] xref: MIM:PS149730 xref: ORDO:2363 is_a: DOID:225 ! syndrome [Term] id: DOID:0081371 name: lacrimoauriculodentodigital syndrome 2 def: "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." [url:https\://pubmed.ncbi.nlm.nih.gov/16501574/] synonym: "Lacrimo-auriculo-dento-digital syndrome 2" EXACT [] xref: MIM:620192 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081370 ! LADD syndrome [Term] id: DOID:0081372 name: lacrimoauriculodentodigital syndrome 3 def: "A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12." [url:https\://pubmed.ncbi.nlm.nih.gov/16630169/] synonym: "Lacrimo-auriculo-dento-digital syndrome 3" EXACT [] xref: MIM:620193 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081370 ! LADD syndrome [Term] id: DOID:0081373 name: disabling pansclerotic morphea def: "A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone." [url:https\://pubmed.ncbi.nlm.nih.gov/30838436/, url:https\://pubmed.ncbi.nlm.nih.gov/37256972/] synonym: "disabling pansclerotic morphea of childhood" EXACT [] is_a: DOID:8472 ! localized scleroderma [Term] id: DOID:0081374 name: nemaline myopathy 5B def: "A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset." [url:https\://pubmed.ncbi.nlm.nih.gov/35165004/] xref: MIM:620386 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0081375 name: nemaline myopathy 5C def: "A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/35510366/] xref: MIM:620389 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0081376 name: obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy def: "A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21." [url:https\://pubmed.ncbi.nlm.nih.gov/32367058/] is_obsolete: true replaced_by: DOID:0081427 [Term] id: DOID:0081377 name: COX deficiency, benign infantile mitochondrial myopathy def: "A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles." [url:https\://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/] subset: DO_rare_slim synonym: "Isolated cytochrome C oxidase deficiency" EXACT [] xref: GARD:48 xref: ORDO:254905 xref: UMLS_CUI:C5779825 is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease [Term] id: DOID:0081378 name: amyotrophic lateral sclerosis type 24 def: "An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33." [url:https\://pubmed.ncbi.nlm.nih.gov/26945885/] xref: MIM:617892 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0081379 name: amyotrophic lateral sclerosis type 25 def: "An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively)." [url:https\://pubmed.ncbi.nlm.nih.gov/29566793/] xref: MIM:617921 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0081380 name: amyotrophic lateral sclerosis type 26 def: "An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13." [url:https\://pubmed.ncbi.nlm.nih.gov/28817800/] xref: MIM:619133 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0081381 name: juvenile amyotrophic lateral sclerosis type 27 def: "An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22." [url:https\://pubmed.ncbi.nlm.nih.gov/34059824/] xref: MIM:620285 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0081382 name: amyotrophic lateral sclerosis type 28 def: "An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22." [url:https\://pubmed.ncbi.nlm.nih.gov/37339631/] xref: MIM:620452 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0081383 name: ataxia-oculomotor apraxia type 4 def: "An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/25728773/] subset: DO_rare_slim xref: GARD:13111 xref: MIM:616267 xref: ORDO:459033 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0081384 name: ataxia-telangiectasia-like disorder-1 def: "An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21." [url:https\://pubmed.ncbi.nlm.nih.gov/10612394/] subset: DO_rare_slim xref: MIM:604391 xref: ORDO:251347 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0081385 name: ataxia-telangiectasia-like disorder-2 def: "An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12." [url:https\://pubmed.ncbi.nlm.nih.gov/24911150/] subset: DO_rare_slim synonym: "PCNA-related progressive neurodegenerative photosensitivity syndrome" EXACT [] xref: MIM:615919 xref: ORDO:438134 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0081386 name: TANGO2-related metabolic encephalopathy and arrythmias def: "A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11." [url:https\://pubmed.ncbi.nlm.nih.gov/26805782/, url:https\://www.ncbi.nlm.nih.gov/books/NBK476443/] subset: DO_rare_slim synonym: "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" EXACT [] synonym: "TANGO2 deficiency" EXACT [] xref: GARD:13423 xref: MIM:616878 xref: ORDO:480864 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0081387 name: neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities def: "An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36." [url:https\://pubmed.ncbi.nlm.nih.gov/37054711/] xref: MIM:620428 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081388 name: primary progressive aphasia def: "A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language." [url:https\://pubmed.ncbi.nlm.nih.gov/21325651/, url:https\://pubmed.ncbi.nlm.nih.gov/29392464/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993834/] subset: DO_rare_slim xref: GARD:8541 xref: ORDO:95432 is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:0081389 name: logopenic progressive aphasia def: "A primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. It is a type of primary progressive aphasia. Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers." [url:https\://pubmed.ncbi.nlm.nih.gov/21325651/] subset: DO_rare_slim synonym: "Logopenic primary progressive aphasia" EXACT [] synonym: "logopenic variant PPA" EXACT [] xref: GARD:10791 xref: ORDO:250831 is_a: DOID:0081388 ! primary progressive aphasia [Term] id: DOID:0081390 name: progressive non-fluent aphasia def: "A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech." [url:https\://pubmed.ncbi.nlm.nih.gov/32047619/] subset: DO_rare_slim synonym: "Agramatic variant of primary progressive aphasia" EXACT [] synonym: "nonfluent agrammatic PPA" EXACT [] xref: GARD:10793 xref: ORDO:100070 is_a: DOID:0081388 ! primary progressive aphasia [Term] id: DOID:0081391 name: semantic dementia def: "A primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." [url:https\://pubmed.ncbi.nlm.nih.gov/28019640/] subset: DO_rare_slim synonym: "semantic variant of primary progressive aphasia" EXACT [] synonym: "semantic variant PPA" EXACT [] xref: GARD:10792 xref: ORDO:100069 is_a: DOID:0081388 ! primary progressive aphasia [Term] id: DOID:0081392 name: corticobasal degeneration syndrome def: "A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities." [url:https\://pubmed.ncbi.nlm.nih.gov/34316603/] subset: DO_rare_slim xref: ORDO:454887 is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:0081393 name: organophosphate-induced delayed polyneuropathy def: "An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits." [url:https\://www.atsdr.cdc.gov/csem/cholinesterase-inhibitors/neuropathy.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/16042503] synonym: "organophosphate induced delayed polyneuropathy" EXACT [] is_a: DOID:2537 ! inflammatory and toxic neuropathy [Term] id: DOID:0081394 name: Caroli syndrome def: "A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease." [url:https\://pubmed.ncbi.nlm.nih.gov/29643536/, url:https\://pubmed.ncbi.nlm.nih.gov/30020679/, url:https\://www.ncbi.nlm.nih.gov/books/NBK513307/] subset: DO_rare_slim xref: GARD:6002 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:272 ! hepatic vascular disease is_a: DOID:4138 ! bile duct disease is_a: DOID:866 ! vein disease [Term] id: DOID:0081395 name: Harel-Yoon syndrome def: "A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36." [url:https\://pubmed.ncbi.nlm.nih.gov/27640307/] subset: DO_rare_slim synonym: "Ocular anomalies-axonal neuropathy-developmental delay syndrome" EXACT [] xref: MIM:617183 xref: ORDO:496790 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0081396 name: neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome def: "A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33." [url:https\://pubmed.ncbi.nlm.nih.gov/28549128/] subset: DO_rare_slim synonym: "PHRINL syndrome" EXACT [] xref: MIM:618810 xref: ORDO:615983 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0081397 name: Vissers-Bodmer syndrome def: "A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21." [url:https\://pubmed.ncbi.nlm.nih.gov/32553196/] xref: MIM:619033 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0081398 name: holoprosencephaly 12 def: "A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21." [url:https\://pubmed.ncbi.nlm.nih.gov/31006510/] synonym: "holoprosencephaly-12 with or without pancreatic agenesis" EXACT [] xref: MIM:618500 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0081399 name: autosomal dominant distal hereditary motor neuronopathy 10 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23." [url:https\://pubmed.ncbi.nlm.nih.gov/31978608/] xref: MIM:620080 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0081400 name: autosomal dominant distal hereditary motor neuronopathy 11 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34." [url:https\://pubmed.ncbi.nlm.nih.gov/33206935/] xref: MIM:620528 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0081401 name: autosomal dominant distal hereditary motor neuronopathy 13 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12." [url:https\://pubmed.ncbi.nlm.nih.gov/20806400/] xref: MIM:619112 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0081402 name: sarcoma with BCOR genetic alterations def: "A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations." [url:https\://pubmed.ncbi.nlm.nih.gov/35730501/, url:https\://pubmed.ncbi.nlm.nih.gov/36202860/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "BCOR-Rearranged Sarcoma" EXACT [] xref: ICDO:9368/3 xref: NCI:C178465 is_a: DOID:3098 ! small cell sarcoma [Term] id: DOID:0081403 name: BCOR ITD sarcoma def: "A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication." [url:https\://pubmed.ncbi.nlm.nih.gov/36202860/] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C178468 is_a: DOID:0081402 ! sarcoma with BCOR genetic alterations [Term] id: DOID:0081404 name: BCOR-CCNB3 sarcoma def: "A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene." [url:https\://pubmed.ncbi.nlm.nih.gov/36202860/] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C178466 is_a: DOID:0081402 ! sarcoma with BCOR genetic alterations [Term] id: DOID:0081405 name: childhood sarcoma with BCOR genetic alterations def: "A sarcoma with BCOR genetic alterations that occurs during childhood." [url:https\://pubmed.ncbi.nlm.nih.gov/36202860/] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: NCI:C189007 is_a: DOID:0081402 ! sarcoma with BCOR genetic alterations [Term] id: DOID:0081406 name: round cell sarcoma with EWSR1-non-ETS fusion def: "A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family." [url:https\://pubmed.ncbi.nlm.nih.gov/35430129/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Ewing-Like Sarcoma or Round Cell Sarcoma" EXACT [] synonym: "Round Cell Sarcoma with EWSR1::non-ETS Fusion" EXACT [] xref: ICDO:9366/3 xref: NCI:C178459 is_a: DOID:3098 ! small cell sarcoma [Term] id: DOID:0081407 name: childhood round cell sarcoma with EWSR1-non-ETS fusion def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood." [url:https\://pubmed.ncbi.nlm.nih.gov/36202860/] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: NCI:C189003 is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion [Term] id: DOID:0081408 name: round cell sarcoma with EWSR1-NFATC2 gene fusion def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion." [url:https\://pubmed.ncbi.nlm.nih.gov/35430129/] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C178460 is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion [Term] id: DOID:0081409 name: round cell sarcoma with EWSR1-PATZ1 gene fusion def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion." [url:https\://pubmed.ncbi.nlm.nih.gov/30379650/] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C178461 is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion [Term] id: DOID:0081410 name: round cell sarcoma with FUS-NFATC2 gene fusion def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion." [url:https\://pubmed.ncbi.nlm.nih.gov/31078563/] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C178462 is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion [Term] id: DOID:0081411 name: B acute lymphoblastic leukemia with PAX5 P80R mutation def: "A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation." [url:https\://pubmed.ncbi.nlm.nih.gov/30510083/, url:https\://pubmed.ncbi.nlm.nih.gov/32463891/, url:https\://pubmed.ncbi.nlm.nih.gov/36241730/] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C199260 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0081412 name: B acute lymphoblastic leukemia with DUX4 rearrangement def: "A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement." [url:https\://pubmed.ncbi.nlm.nih.gov/36602820/] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C199232 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0081413 name: renal cell carcinoma with MiT translocations def: "A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors." [url:https\://pubmed.ncbi.nlm.nih.gov/25758327/, url:https\://pubmed.ncbi.nlm.nih.gov/31382581/, url:https\://pubmed.ncbi.nlm.nih.gov/36672892/, url:https\://pubmed.ncbi.nlm.nih.gov/37060647/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "MiT family translocation renal cell carcinoma" EXACT [] synonym: "MiT Family Translocation-Associated Renal Cell Carcinoma" EXACT [] xref: ICDO:8311/3 xref: NCI:C154494 is_a: DOID:4450 ! renal cell carcinoma [Term] id: DOID:0081414 name: TFEB-rearranged renal cell carcinoma def: "A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11." [url:https\://pubmed.ncbi.nlm.nih.gov/36830782/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1-TFEB" EXACT [] synonym: "Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1::TFEB" EXACT [] synonym: "t(6;11) Renal Cell Carcinoma" EXACT [] synonym: "t(6;11);(p21;q12) Renal Cell Carcinoma" EXACT [] xref: NCI:C37210 is_a: DOID:0081413 ! renal cell carcinoma with MiT translocations [Term] id: DOID:0081415 name: TFE3-rearranged renal cell carcinoma def: "A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/38104891/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions" EXACT [] synonym: "Xp11 Translocation Renal Cell Carcinoma" EXACT [] xref: NCI:C27891 is_a: DOID:0081413 ! renal cell carcinoma with MiT translocations [Term] id: DOID:0081416 name: childhood renal cell carcinoma with MiT translocations def: "A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood." [url:https\://pubmed.ncbi.nlm.nih.gov/37528880/] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: NCI:C189242 is_a: DOID:0081413 ! renal cell carcinoma with MiT translocations [Term] id: DOID:0081417 name: poorly differentiated chordoma def: "A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm." [url:https\://pubmed.ncbi.nlm.nih.gov/29483606/, url:https\://pubmed.ncbi.nlm.nih.gov/34482218/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9370/3 xref: NCI:C177898 is_a: DOID:3302 ! chordoma [Term] id: DOID:0081418 name: anaplastic sarcoma of the kidney def: "A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures." [url:https\://pubmed.ncbi.nlm.nih.gov/17895746/, url:https\://pubmed.ncbi.nlm.nih.gov/27006300/, url:https\://pubmed.ncbi.nlm.nih.gov/28862265/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8802/3 xref: NCI:C154496 is_a: DOID:4242 ! kidney sarcoma [Term] id: DOID:0081419 name: childhood-onset dystonia with optic atrophy and basal ganglia abnormalities def: "A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later." [url:https\://pubmed.ncbi.nlm.nih.gov/27817865/] subset: DO_rare_slim synonym: "DYSTONIA 29, CHILDHOOD-ONSET" EXACT [] synonym: "DYTOABG" EXACT OMO:0003012 [] synonym: "MECR-related neurologic disorder" EXACT [] synonym: "MEPAN syndrome" EXACT [] synonym: "Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration" EXACT [] xref: GARD:13488 xref: MIM:617282 xref: ORDO:508093 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0081420 name: familial focal epilepsy with variable foci def: "A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members." [url:https\://www.ncbi.nlm.nih.gov/books/NBK385626/] subset: DO_rare_slim synonym: "DEPDC5-related epilepsy" EXACT [] xref: GARD:13295 xref: MIM:PS604364 xref: ORDO:98820 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2234 ! focal epilepsy [Term] id: DOID:0081421 name: familial focal epilepsy with variable foci 1 def: "A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12." [url:https\://pubmed.ncbi.nlm.nih.gov/32848577/] xref: MIM:604364 is_a: DOID:0081420 ! familial focal epilepsy with variable foci [Term] id: DOID:0081422 name: familial focal epilepsy with variable foci 2 def: "A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21." [url:https\://pubmed.ncbi.nlm.nih.gov/26505888/] xref: MIM:617116 is_a: DOID:0081420 ! familial focal epilepsy with variable foci [Term] id: DOID:0081423 name: familial focal epilepsy with variable foci 3 def: "A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13." [url:https\://pubmed.ncbi.nlm.nih.gov/26505888/] xref: MIM:617118 is_a: DOID:0081420 ! familial focal epilepsy with variable foci [Term] id: DOID:0081424 name: familial focal epilepsy with variable foci 4 def: "A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24." [url:https\://pubmed.ncbi.nlm.nih.gov/28235671/] xref: MIM:617935 is_a: DOID:0081420 ! familial focal epilepsy with variable foci [Term] id: DOID:0081425 name: autosomal recessive distal hereditary motor neuronopathy 6 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness in early infancy and that has_material_basis_in homozygous mutation in the REEP1 gene on chromosome 2p11." [url:https\://pubmed.ncbi.nlm.nih.gov/31872057/] xref: MIM:620011 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0081426 name: autosomal recessive distal hereditary motor neuronopathy 7 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36." [url:https\://pubmed.ncbi.nlm.nih.gov/33459760/, url:https\://pubmed.ncbi.nlm.nih.gov/33559681/] xref: MIM:619216 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0081427 name: autosomal recessive distal hereditary motor neuronopathy 8 alt_id: DOID:0081376 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21." [url:https\://pubmed.ncbi.nlm.nih.gov/32367058/] synonym: "sorbitol dehydrogenase deficiency with peripheral neuropathy" EXACT [] synonym: "SORDD" EXACT OMO:0003012 [] xref: MIM:618912 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0081428 name: autosomal recessive distal hereditary motor neuronopathy 9 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12." [url:https\://pubmed.ncbi.nlm.nih.gov/36454683/] xref: MIM:620402 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0081429 name: autosomal recessive distal hereditary motor neuronopathy 10 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32." [url:https\://pubmed.ncbi.nlm.nih.gov/35641352/] xref: MIM:620542 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0081430 name: intellectual developmental disorder with autistic features and language delay, with or without seizures def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23." [url:https\://pubmed.ncbi.nlm.nih.gov/31616000/] synonym: "IDDALDS" EXACT OMO:0003012 [] xref: MIM:618906 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0081431 name: microcephaly, short stature, and limb abnormalities def: "An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death." [url:https\://pubmed.ncbi.nlm.nih.gov/28191891/] subset: DO_rare_slim synonym: "DONSON-related microcephaly-short stature-limb abnormalities spectrum" EXACT [] xref: MIM:617604 xref: ORDO:572761 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0081432 name: microcephaly-micromelia syndrome def: "A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder." [url:https\://pubmed.ncbi.nlm.nih.gov/28630177/] subset: DO_rare_slim xref: MIM:251230 xref: ORDO:572768 is_a: DOID:225 ! syndrome [Term] id: DOID:0081433 name: Peroxisome biogenesis disorder 4B def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR." [url:https\://pubmed.ncbi.nlm.nih.gov/22871920/] xref: MIM:614863 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0081434 name: Peroxisome biogenesis disorder 5B def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21." [url:https\://pubmed.ncbi.nlm.nih.gov/22871920/] xref: MIM:614867 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0081435 name: Peroxisome biogenesis disorder 6B def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36." [url:https\://pubmed.ncbi.nlm.nih.gov/22871920/] xref: MIM:614871 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0081436 name: Peroxisome biogenesis disorder 7B def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/22871920/] xref: MIM:614873 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0081437 name: Peroxisome biogenesis disorder 8B def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11." [url:https\://pubmed.ncbi.nlm.nih.gov/22871920/] xref: MIM:614877 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0081438 name: Peroxisome biogenesis disorder 9B def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23." [url:https\://pubmed.ncbi.nlm.nih.gov/12325024/] xref: MIM:614879 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0081439 name: Peroxisome biogenesis disorder 11B def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15." [url:https\://pubmed.ncbi.nlm.nih.gov/22871920/] xref: MIM:614885 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0081440 name: Peroxisome biogenesis disorder 10B def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX3 gene on chromosome 6q24." [url:https\://pubmed.ncbi.nlm.nih.gov/22871920/] xref: MIM:617370 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0081441 name: Nicolaides-Baraitser syndrome def: "A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24." [url:https\://pubmed.ncbi.nlm.nih.gov/19606471/, url:https\://www.ncbi.nlm.nih.gov/books/NBK321516/] subset: DO_rare_slim synonym: "Intellectual disability-sparse hair-brachydactyly syndrome" EXACT [] synonym: "SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME" EXACT [] xref: GARD:270 xref: MIM:601358 xref: ORDO:3051 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0081442 name: blepharophimosis-impaired intellectual development syndrome def: "A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24." [url:https\://pubmed.ncbi.nlm.nih.gov/32694869/] subset: DO_rare_slim synonym: "SMARCA2-related blepharophimosis-intellectual disability syndrome" EXACT [] xref: MIM:619293 xref: ORDO:637013 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0081443 name: Stolerman neurodevelopmental syndrome def: "A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13." [url:https\://pubmed.ncbi.nlm.nih.gov/31124279/, url:https\://pubmed.ncbi.nlm.nih.gov/37196654/] xref: MIM:618505 is_a: DOID:225 ! syndrome [Term] id: DOID:0081444 name: neurodevelopmental disorder with poor growth and behavioral abnormalities def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13." [url:https\://pubmed.ncbi.nlm.nih.gov/34379057/, url:https\://pubmed.ncbi.nlm.nih.gov/36604604/] xref: MIM:620242 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0081445 name: sickle cell disease def: "A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia)." [url:https\://medlineplus.gov/genetics/condition/sickle-cell-disease, url:https\://www.ncbi.nlm.nih.gov/books/NBK1377/, url:https\://www.ncbi.nlm.nih.gov/books/NBK482164/] xref: MIM:603903 is_a: DOID:620 ! blood protein disease [Term] id: DOID:0081446 name: dimethylglycine dehydrogenase deficiency def: "An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH on chromosome 5q14." [url:https\://pubmed.ncbi.nlm.nih.gov/10102904/, url:https\://pubmed.ncbi.nlm.nih.gov/11231903/] subset: DO_rare_slim synonym: "DMG dehydrogenase deficiency" EXACT [] xref: MIM:605850 xref: ORDO:243343 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0081447 name: cone-rod dystrophy 21 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13." [url:https\://pubmed.ncbi.nlm.nih.gov/26720460/] xref: MIM:616502 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0081448 name: cone-rod dystrophy 22 def: "A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11." [url:https\://pubmed.ncbi.nlm.nih.gov/33077892/] xref: MIM:619531 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0081449 name: cone-rod dystrophy 24 def: "A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11." [url:https\://pubmed.ncbi.nlm.nih.gov/35947183/] xref: MIM:620342 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0081450 name: hyperimmunoglobulinemia D periodic fever syndrome def: "A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24." [url:https\://pubmed.ncbi.nlm.nih.gov/22041426/] subset: DO_rare_slim synonym: "HYPER-IgD SYNDROME" EXACT [] xref: GARD:2788 xref: MIM:260920 xref: ORDO:343 is_a: DOID:2959 ! hyperimmunoglobulin syndrome [Term] id: DOID:0081451 name: PFAPA syndrome def: "An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." [url:https\://www.ncbi.nlm.nih.gov/articles/PMC8356195/] subset: DO_rare_slim synonym: "Marshall syndrome with periodic fever" EXACT [] synonym: "Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome" EXACT [] xref: GARD:5657 xref: ORDO:42642 is_a: DOID:417 ! autoimmune disease [Term] id: DOID:0081452 name: large B-cell lymphoma def: "A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters." [url:https\://pubmed.ncbi.nlm.nih.gov/37190213/] is_a: DOID:707 ! B-cell lymphoma [Term] id: DOID:0081453 name: Dent disease 1 def: "A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent." [url:https\://pubmed.ncbi.nlm.nih.gov/32248351/, url:https\://www.ncbi.nlm.nih.gov/books/NBK99494/] subset: DO_rare_slim xref: MESH:C538212 xref: MIM:300009 xref: ORDO:93622 xref: SNOMEDCT_US_2023_03_01:717789008 xref: UMLS_CUI:C1848336 is_a: DOID:0050699 ! Dent disease [Term] id: DOID:0081454 name: Dent disease 2 def: "A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26." [url:https\://pubmed.ncbi.nlm.nih.gov/15627218/] xref: MESH:C564487 xref: MIM:300555 xref: SNOMEDCT_US_2023_03_01:717790004 xref: UMLS_CUI:C1845167 is_a: DOID:0050699 ! Dent disease [Term] id: DOID:0081455 name: auto-brewery syndrome def: "An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication." [url:https\://en.wikipedia.org/wiki/Auto-brewery_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/38246992/, url:https\://www.ncbi.nlm.nih.gov/books/NBK513346/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667719/] synonym: "auto brewery syndrome" EXACT [] synonym: "gut fermentation syndrome" EXACT [] is_a: DOID:0060158 ! acquired metabolic disease [Term] id: DOID:0081456 name: bladder fermentation syndrome def: "An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication." [url:https\://pubmed.ncbi.nlm.nih.gov/38246992/] synonym: "urinary auto-brewery syndrome" EXACT [] is_a: DOID:0060158 ! acquired metabolic disease [Term] id: DOID:0081457 name: intrathyroid thymic carcinoma def: "A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation." [url:https\://pubmed.ncbi.nlm.nih.gov/37925863/] subset: NCIthesaurus synonym: "Carcinoma showing thymus-like differentiation" EXACT [] synonym: "Carcinoma showing thymus-like element" EXACT [] synonym: "CASTLE" EXACT OMO:0003012 [] synonym: "Intrathyroid thymic carcinoma" EXACT [] synonym: "Thyroid_Gland_Carcinoma_Showing_Thymus-Like_Differentiation" EXACT [] xref: ICDO:8589/3 xref: NCI:C46106 is_a: DOID:3963 ! thyroid gland carcinoma [Term] id: DOID:0081458 name: thyroid gland cribriform morular carcinoma def: "A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation." [url:https\://pubmed.ncbi.nlm.nih.gov/35882545/] subset: NCIthesaurus synonym: "CMTC" EXACT OMO:0003012 [] synonym: "Cribriform Morular Thyroid Gland Carcinoma" EXACT [] synonym: "Cribriform-Morular Variant Thyroid Gland Papillary Cancer" EXACT [] synonym: "Cribriform-Morular Variant Thyroid Gland Papillary Carcinoma" EXACT [] synonym: "Thyroid Gland Cribriform Morular Carcinoma" EXACT [] xref: NCI:C126408 is_a: DOID:3963 ! thyroid gland carcinoma [Term] id: DOID:0081459 name: thyroid gland mixed medullary and follicular cell-derived carcinoma def: "A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin." [url:https\://pubmed.ncbi.nlm.nih.gov/20574174/] subset: NCIthesaurus synonym: "mixed medullary and follicular cell-derived carcinomas" EXACT [] xref: NCI:C46104 is_a: DOID:3963 ! thyroid gland carcinoma [Term] id: DOID:0081460 name: thyroid gland mucinous carcinoma def: "A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition." [url:https\://pubmed.ncbi.nlm.nih.gov/24466763/] subset: NCIthesaurus xref: NCI:C156267 is_a: DOID:3963 ! thyroid gland carcinoma [Term] id: DOID:0081461 name: thyroid gland spindle epithelial tumor with thymus-like elements def: "A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells." [url:https\://pubmed.ncbi.nlm.nih.gov/21085772/] subset: NCIthesaurus synonym: "SETTLE" EXACT OMO:0003012 [] synonym: "Spindle Epithelial Tumor with Thymus-Like Elements" EXACT [] synonym: "Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation" EXACT [] synonym: "Thyroid Gland Spindle Epithelial Tumor with Thymus-Like Elements" EXACT [] xref: NCI:C46105 is_a: DOID:3963 ! thyroid gland carcinoma [Term] id: DOID:0090001 name: Fraser syndrome def: "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12766769, url:https\://www.ncbi.nlm.nih.gov/pubmed/15838507, url:https\://www.ncbi.nlm.nih.gov/pubmed/16894541, url:https\://www.ncbi.nlm.nih.gov/pubmed/22510445] subset: DO_rare_slim synonym: "cryptophthalmos with other malformations" EXACT [] xref: GARD:6465 xref: ICD10CM:Q87.0 xref: MESH:D058497 xref: MIM:PS219000 xref: ORDO:2052 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0090002 name: Tietz syndrome def: "A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13." [url:https\://ghr.nlm.nih.gov/condition/tietz-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/13985019, url:https\://www.ncbi.nlm.nih.gov/pubmed/8589691] subset: DO_rare_slim synonym: "albinism-deafness of Tietz" EXACT [] synonym: "hypopigmentation/deafness of Tietz" EXACT [] synonym: "Tietz albinism-deafness syndrome" EXACT [] xref: GARD:7772 xref: MESH:C536919 xref: MIM:103500 xref: ORDO:42665 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0090003 name: agenesis of the corpus callosum with peripheral neuropathy alt_id: DOID:0060600 def: "A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12368912, url:https\://www.ncbi.nlm.nih.gov/pubmed/12838516] subset: DO_rare_slim synonym: "Andermann syndrome" EXACT [] synonym: "Charlevoix disease" EXACT [] synonym: "corpus callosum agenesis-neuronopathy syndrome" EXACT [] xref: ICD10CM:G60.0 xref: MIM:218000 xref: ORDO:1496 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:0090004 name: progressive pseudorheumatoid arthropathy of childhood def: "A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15215498, url:https\://www.ncbi.nlm.nih.gov/pubmed/15601861, url:https\://www.ncbi.nlm.nih.gov/pubmed/6807993] subset: DO_rare_slim synonym: "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome" EXACT [] xref: ICD10CM:Q77.7 xref: MIM:208230 xref: ORDO:1159 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0090005 name: Schwartz-Jampel syndrome 1 def: "A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11941538, url:https\://www.ncbi.nlm.nih.gov/pubmed/1552548, url:https\://www.ncbi.nlm.nih.gov/pubmed/18647752] subset: DO_rare_slim synonym: "Aberfeld syndrome" EXACT [] synonym: "Burton skeletal dysplasia" EXACT [] synonym: "Burton syndrome" EXACT [] synonym: "Catel-Hempel syndrome" EXACT [] synonym: "Catel-Hempel type dysostosis enchondralis metaepiphysaria" EXACT [] synonym: "myotonic chondrodystrophy" EXACT [] synonym: "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies" EXACT [] synonym: "osteochondromuscular dystrophy" EXACT [] synonym: "Schwartz-Jampel syndrome type 1" EXACT [] synonym: "Schwartz-Jampel-Aberfeld syndrome" EXACT [] xref: GARD:250 xref: ICD10CM:G71.1 xref: MIM:255800 xref: ORDO:800 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0090006 name: renal coloboma syndrome def: "A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10466411, url:https\://www.ncbi.nlm.nih.gov/pubmed/7795640] subset: DO_rare_slim synonym: "CAKUT with or without ocular abnormalities" EXACT [] synonym: "coloboma of optic nerve with renal disease" EXACT [] synonym: "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities" EXACT [] synonym: "optic coloboma, vesicoureteral reflux and renal anomalies" EXACT [] synonym: "papillo-renal syndrome, optic nerve coloboma with renal disease" EXACT [] synonym: "papillorenal syndrome" EXACT [] synonym: "renal-coloboma syndrome with macular abnormalities" EXACT [] xref: GARD:4106 xref: ICD10CM:Q60.4 xref: MIM:120330 xref: ORDO:1475 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0090007 name: immunodeficiency-centromeric instability-facial anomalies syndrome def: "A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17893117, url:https\://www.ncbi.nlm.nih.gov/pubmed/26216346] subset: DO_rare_slim synonym: "ICF syndrome" EXACT [] xref: ICD10CM:D84.8 xref: MIM:PS242860 xref: ORDO:2268 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0090008 name: immunodeficiency-centromeric instability-facial anomalies syndrome 1 def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10647011, url:https\://www.ncbi.nlm.nih.gov/pubmed/17893117] synonym: "ICF syndrome 1" EXACT [] xref: ICD10CM:D84.8 xref: MIM:242860 is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome [Term] id: DOID:0090009 name: immunodeficiency-centromeric instability-facial anomalies syndrome 2 def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21596365] synonym: "ICF syndrome 2" EXACT [] xref: ICD10CM:D84.8 xref: MIM:614069 is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome [Term] id: DOID:0090010 name: immunodeficiency-centromeric instability-facial anomalies syndrome 3 def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26216346] synonym: "ICF syndrome 3" EXACT [] xref: ICD10CM:D84.8 xref: MIM:616910 is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome [Term] id: DOID:0090011 name: immunodeficiency-centromeric instability-facial anomalies syndrome 4 def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26216346] synonym: "ICF syndrome 4" EXACT [] xref: ICD10CM:D84.8 xref: MIM:616911 is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome [Term] id: DOID:0090012 name: severe combined immunodeficiency with sensitivity to ionizing radiation alt_id: DOID:0060006 def: "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11336668] subset: DO_rare_slim synonym: "artemis deficiency" EXACT [] synonym: "SCID due to artemis deficiency" EXACT [] synonym: "SCID due to DCLRE1C deficiency" EXACT [] synonym: "SCID, Athabascan type" EXACT [] synonym: "SCID, Athabaskan type" EXACT [] synonym: "Severe combined immunodeficiency due to artemis deficiency" EXACT [] synonym: "Severe combined immunodeficiency due to DCLRE1C deficiency" EXACT [] synonym: "Severe combined immunodeficiency, Athabascan type" EXACT [] synonym: "Severe combined immunodeficiency, Athabaskan type" EXACT [] xref: ICD10CM:D81.1 xref: MESH:C537589 xref: MIM:602450 xref: ORDO:275 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0090013 name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive def: "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1940786] subset: DO_rare_slim synonym: "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID" EXACT [] synonym: "SCID due to complete RAG1-2 deficiency" EXACT [] synonym: "Severe combined immunodeficiency due to complete RAG1-2 deficiency" EXACT [] xref: ICD10CM:D81.1 xref: MESH:C563311 xref: MIM:601457 xref: ORDO:331206 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0090014 name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive alt_id: DOID:0060015 def: "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15661025, url:https\://www.ncbi.nlm.nih.gov/pubmed/9068311, url:https\://www.ncbi.nlm.nih.gov/pubmed/9843216] subset: DO_rare_slim synonym: "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID" EXACT [] synonym: "interleukin-7 receptor alpha deficiency" EXACT [] synonym: "severe combined immunodeficiency 104" EXACT [] xref: ICD10CM:D81.2 xref: MESH:C563822 xref: MIM:608971 xref: ORDO:169154 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0090015 name: Cenani-Lenz syndactyly syndrome def: "A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18978656, url:https\://www.ncbi.nlm.nih.gov/pubmed/20381006, url:https\://www.ncbi.nlm.nih.gov/pubmed/6279340] subset: DO_rare_slim synonym: "syndactyly type 7" EXACT [] xref: GARD:5084 xref: ICD10CM:Q78.4 xref: MIM:212780 xref: ORDO:3258 is_a: DOID:1934 ! dysostosis [Term] id: DOID:0090016 name: chromosome 5q deletion syndrome def: "A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18202658, url:https\://www.ncbi.nlm.nih.gov/pubmed/19898489, url:https\://www.ncbi.nlm.nih.gov/pubmed/25920683] subset: DO_rare_slim synonym: "5q- syndrome, refractory macrocytic anemia due to 5q deletion" EXACT [] synonym: "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality" EXACT [] xref: GARD:10840 xref: ICD10CM:D46.7 xref: MESH:C535323 xref: MIM:153550 xref: ORDO:86841 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0090017 name: epidermolysis bullosa simplex with muscular dystrophy def: "An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2662909, url:https\://www.ncbi.nlm.nih.gov/pubmed/8696340] subset: DO_rare_slim synonym: "epidermolysis bullosa simplex and limb-girdle muscular dystrophy" EXACT [] synonym: "limb-girdle muscular dystrophy with epidermolysis bullosa simplex" EXACT [] xref: ICD10CM:Q81.0 xref: MIM:226670 xref: ORDO:257 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0090018 name: autosomal dominant familial periodic fever def: "A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10199409, url:https\://www.ncbi.nlm.nih.gov/pubmed/7156325, url:https\://www.nomidalliance.org/traps.php] subset: DO_rare_slim synonym: "familial Hibernian fever" EXACT [] synonym: "FHF" EXACT OMO:0003012 [] synonym: "FPF" EXACT OMO:0003012 [] synonym: "hibernian fever" EXACT [] synonym: "TNF receptor associated periodic syndrome" EXACT [] synonym: "TRAPS" EXACT OMO:0003012 [] synonym: "tumor necrosis factor receptor associated periodic syndrome" EXACT [] xref: GARD:8457 xref: ICD10CM:E85.0 xref: MIM:142680 xref: ORDO:32960 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0090019 name: sitosterolemia 1 def: "An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11099417, url:https\://www.ncbi.nlm.nih.gov/pubmed/11138003] subset: DO_rare_slim subset: NCIthesaurus synonym: "phytosterolemia" EXACT [] xref: GARD:7653 xref: MESH:C537345 xref: MIM:210250 xref: NCI:C125694 xref: ORDO:2882 xref: SNOMEDCT_US_2023_03_01:238104009 xref: UMLS_CUI:C0342907 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5295 ! intestinal disease [Term] id: DOID:0090020 name: split hand-foot malformation def: "A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12668597, url:https\://www.ncbi.nlm.nih.gov/pubmed/7802032] subset: DO_rare_slim subset: NCIthesaurus synonym: "lobster-claw deformity" EXACT [] synonym: "split-hand deformity" EXACT [] xref: GARD:6319 xref: MESH:C574275 xref: MIM:PS183600 xref: NCI:C75000 xref: ORDO:2440 xref: SNOMEDCT_US_2023_03_01:81208006 xref: UMLS_CUI:C0265554 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:0090021 name: split hand-foot malformation 1 def: "A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24496061, url:https\://www.ncbi.nlm.nih.gov/pubmed/7616545] subset: DO_rare_slim synonym: "SHFD1" EXACT OMO:0003012 [] synonym: "SHFM1" EXACT OMO:0003012 [] xref: ICD10CM:Q71.6 xref: MIM:183600 xref: ORDO:2440 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090020 ! split hand-foot malformation [Term] id: DOID:0090022 name: split hand-foot malformation 5 def: "A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10364522] subset: DO_rare_slim subset: NCIthesaurus synonym: "SHFM5" EXACT OMO:0003012 [] xref: MESH:C574275 xref: MIM:606708 xref: NCI:C75000 xref: ORDO:2440 xref: SNOMEDCT_US_2023_03_01:81208006 xref: UMLS_CUI:C0265554 is_a: DOID:0090020 ! split hand-foot malformation [Term] id: DOID:0090023 name: split hand-foot malformation 4 def: "A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10839977] subset: DO_rare_slim subset: NCIthesaurus synonym: "SHFM4" EXACT OMO:0003012 [] xref: MESH:C574275 xref: MIM:605289 xref: NCI:C75000 xref: ORDO:2440 xref: SNOMEDCT_US_2023_03_01:81208006 xref: UMLS_CUI:C0265554 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090020 ! split hand-foot malformation [Term] id: DOID:0090024 name: split hand-foot malformation 1 with sensorineural hearing loss def: "A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22121204] subset: DO_rare_slim synonym: "congenital deafness with split hands and feet" EXACT [] synonym: "SHFM1D" EXACT OMO:0003012 [] xref: ICD10CM:Q87.2 xref: MIM:220600 xref: ORDO:71271 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090020 ! split hand-foot malformation [Term] id: DOID:0090025 name: split hand-foot malformation 3 def: "A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14699611] subset: DO_rare_slim subset: NCIthesaurus synonym: "chromosome 10q24 duplication syndrome" EXACT [] synonym: "distal limb deficiencies with micrognathia" EXACT [] synonym: "SHFM3" EXACT OMO:0003012 [] xref: MESH:C574275 xref: MIM:246560 xref: NCI:C75000 xref: ORDO:2440 xref: SNOMEDCT_US_2023_03_01:81208006 xref: UMLS_CUI:C0265554 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:0090020 ! split hand-foot malformation [Term] id: DOID:0090026 name: split hand-foot malformation 6 def: "A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18515319] subset: DO_rare_slim subset: NCIthesaurus synonym: "SHFM6" EXACT OMO:0003012 [] xref: MESH:C574275 xref: MIM:225300 xref: NCI:C75000 xref: ORDO:2440 xref: SNOMEDCT_US_2023_03_01:81208006 xref: UMLS_CUI:C0265554 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090020 ! split hand-foot malformation [Term] id: DOID:0090027 name: split hand-foot malformation 2 def: "A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15617554] subset: DO_rare_slim subset: NCIthesaurus synonym: "SHFM2" EXACT OMO:0003012 [] xref: MESH:C574275 xref: MIM:313350 xref: NCI:C75000 xref: ORDO:2440 xref: SNOMEDCT_US_2023_03_01:81208006 xref: UMLS_CUI:C0265554 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0090020 ! split hand-foot malformation [Term] id: DOID:0090028 name: familial isolated deficiency of vitamin E def: "A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2298915, url:https\://www.ncbi.nlm.nih.gov/pubmed/7719340] subset: DO_rare_slim subset: NCIthesaurus synonym: "ataxia with isolated vitamin E deficiency" EXACT [] synonym: "familial isolated vitamin E deficiency" EXACT [] xref: MESH:C535393 xref: MIM:277460 xref: NCI:C155996 xref: ORDO:96 xref: SNOMEDCT_US_2023_03_01:702442008 xref: UMLS_CUI:C1848533 is_a: DOID:0050718 ! vitamin metabolic disorder [Term] id: DOID:0090029 name: CINCA Syndrome def: "An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12032915, url:https\://www.ncbi.nlm.nih.gov/pubmed/7252669, url:https\://www.nomidalliance.org/nomid.php] subset: DO_rare_slim synonym: "chronic infantile neurological cutaneous articular syndrome" EXACT [] synonym: "chronic neurologic cutaneous and articular syndrome" EXACT [] synonym: "cryopyrin-associated periodic syndrome 3" EXACT [] synonym: "infantile-onset multisystem inflammatory disease" EXACT [] synonym: "IOMID syndrome" EXACT [] synonym: "neonatal-onset multisystem inflammatory disease" EXACT [] synonym: "NOMID syndrome" EXACT [] synonym: "Prieur-Griscelli syndrome" EXACT [] xref: ICD10CM:E85.0 xref: MIM:607115 xref: ORDO:1451 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:417 ! autoimmune disease [Term] id: DOID:0090030 name: corticosteroid-binding globulin deficiency def: "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10634411, url:https\://www.ncbi.nlm.nih.gov/pubmed/7061486] subset: DO_rare_slim synonym: "CBG deficiency" EXACT [] synonym: "transcortin deficiency" EXACT [] xref: GARD:13101 xref: ICD10CM:E27.8 xref: MESH:C565152 xref: MIM:611489 xref: ORDO:199247 is_a: DOID:0050177 ! monogenic disease is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:0090031 name: D-bifunctional protein deficiency def: "A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2." [url:https\://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency, url:https\://www.omim.org/entry/261515] subset: DO_rare_slim xref: GARD:4539 xref: ICD10CM:E71.3 xref: MIM:261515 xref: ORDO:300 is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0090032 name: Silverman-Handmaker type dyssegmental dysplasia def: "An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36." [url:https\://ghr.nlm.nih.gov/gene/HSPG2#conditions, url:https\://www.omim.org/entry/224410] subset: DO_rare_slim xref: ICD10CM:Q77.7 xref: MIM:224410 xref: ORDO:1865 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0090033 name: myoclonic dystonia def: "A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life." [url:https\://en.wikipedia.org/wiki/Myoclonic_dystonia, url:https\://ghr.nlm.nih.gov/condition/myoclonus-dystonia] xref: MESH:C536096 is_a: DOID:543 ! dystonia [Term] id: DOID:0090034 name: myoclonic dystonia 11 def: "A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21." [url:https\://ghr.nlm.nih.gov/condition/myoclonus-dystonia, url:https\://www.omim.org/entry/159900] subset: DO_rare_slim xref: ICD10CM:G24.1 xref: MIM:159900 xref: ORDO:36899 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090033 ! myoclonic dystonia [Term] id: DOID:0090035 name: myoclonic dystonia 15 def: "A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11." [url:https\://ghr.nlm.nih.gov/condition/myoclonus-dystonia, url:https\://www.omim.org/entry/607488] subset: DO_rare_slim xref: MIM:607488 xref: ORDO:210566 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090033 ! myoclonic dystonia [Term] id: DOID:0090036 name: myoclonic dystonia 26 def: "A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12." [url:https\://ghr.nlm.nih.gov/condition/myoclonus-dystonia, url:https\://www.omim.org/entry/616398] xref: MIM:616398 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090033 ! myoclonic dystonia [Term] id: DOID:0090037 name: torsion dystonia 13 def: "A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11261511, url:https\://www.omim.org/entry/607671] subset: DO_rare_slim xref: ICD10CM:G24.1 xref: MIM:607671 xref: ORDO:98807 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090038 name: torsion dystonia 2 def: "A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25799108, url:https\://www.omim.org/entry/224500] subset: DO_rare_slim xref: ICD10CM:G24.1 xref: MIM:224500 xref: ORDO:99657 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090039 name: torsion dystonia 6 def: "A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11." [url:https\://ghr.nlm.nih.gov/condition/dystonia-6] subset: DO_rare_slim xref: ICD10CM:G24.1 xref: MIM:602629 xref: ORDO:98806 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050835 ! generalized dystonia [Term] id: DOID:0090040 name: torsion dystonia 7 def: "A focal dystonia that is characterized by predominantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23596437, url:https\://www.omim.org/entry/602124] xref: MIM:602124 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050836 ! focal dystonia [Term] id: DOID:0090041 name: torsion dystonia 4 def: "A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29127012, url:https\://www.omim.org/entry/128101] subset: DO_rare_slim xref: ICD10CM:G24.1 xref: MIM:128101 xref: ORDO:98805 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090042 name: torsion dystonia 17 def: "A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23596437, url:https\://www.omim.org/entry/612406] subset: DO_rare_slim xref: ICD10CM:G24.1 xref: MIM:612406 xref: ORDO:370103 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090043 name: dopa-responsive dystonia alt_id: DOID:0060963 def: "A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13." [url:https\://medlineplus.gov/genetics/condition/dopa-responsive-dystonia/, url:https\://pubmed.ncbi.nlm.nih.gov/17111153/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1508/] subset: DO_rare_slim synonym: "Autosomal dominant Segawa syndrome" EXACT [] synonym: "DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT" EXACT [] synonym: "dystonia 5" EXACT [] synonym: "DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT" EXACT [] synonym: "DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION" EXACT [] synonym: "GTPCH1-deficient dopa-responsive dystonia" EXACT [] synonym: "GTPCH1-deficient DRD" EXACT [] synonym: "Hereditary progressive dystonia with marked diurnal fluctuation" EXACT [] synonym: "HPD with marked diurnal fluctuation" EXACT [] xref: ICD10CM:G24.1 xref: MIM:128230 xref: ORDO:98808 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090044 name: dystonia 9 def: "A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1430/, url:https\://www.ncbi.nlm.nih.gov/pubmed/30616884, url:https\://www.omim.org/entry/601042] subset: DO_rare_slim synonym: "paroxysmal choreoathetosis with spasticity" EXACT [] xref: ICD10CM:G24.8 xref: MIM:601042 xref: ORDO:53583 xref: UMLS_CUI:C1832855 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070560 ! glucose transporter type 1 deficiency syndrome is_a: DOID:543 ! dystonia property_value: broadMatch "MESH:C563401" xsd:string property_value: exactMatch "UMLS_CUI:C1832855" xsd:string [Term] id: DOID:0090045 name: glucose transporter type 1 deficiency syndrome 2 def: "A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26336901, url:https\://www.omim.org/entry/612126] subset: DO_rare_slim synonym: "childhood-onset GLUT1 deficiency syndrome 2" EXACT [] synonym: "dystonia 18" EXACT [] synonym: "DYT18" EXACT OMO:0003012 [] synonym: "GLUT1 deficiency syndrome 2" EXACT [] synonym: "GLUT1DS2" EXACT OMO:0003012 [] synonym: "paroxysmal exercise-induced dyskinesia" BROAD [] synonym: "paroxysmal exertion-induced dyskinesia" BROAD [] synonym: "PED" BROAD OMO:0003012 [] xref: GARD:10541 xref: ICD10CM:G24.8 xref: MESH:C564288 xref: MIM:612126 xref: ORDO:98811 xref: UMLS_CUI:C1842534 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070560 ! glucose transporter type 1 deficiency syndrome is_a: DOID:543 ! dystonia property_value: exactMatch "GARD:10541" xsd:string property_value: exactMatch "MESH:C564288" xsd:string property_value: exactMatch "MIM:612126" xsd:string property_value: exactMatch "ORDO:98811" xsd:string property_value: exactMatch "UMLS_CUI:C1842534" xsd:string [Term] id: DOID:0090046 name: dystonia 21 def: "A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21301909, url:https\://www.ncbi.nlm.nih.gov/pubmed/29770609, url:https\://www.omim.org/entry/614588] subset: DO_rare_slim xref: ICD10CM:G24.1 xref: MIM:614588 xref: ORDO:306734 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090047 name: paroxysmal nonkinesigenic dyskinesia 2 def: "A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31." [url:https\://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia, url:https\://www.ncbi.nlm.nih.gov/pubmed/20425035, url:https\://www.ncbi.nlm.nih.gov/pubmed/22454269] subset: DO_rare_slim xref: ICD10CM:G24.8 xref: MESH:C567001 xref: MIM:611147 xref: ORDO:98810 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090048 name: dystonia 16 def: "A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28283962, url:https\://www.ncbi.nlm.nih.gov/pubmed/29279192, url:https\://www.omim.org/entry/612067] subset: DO_rare_slim xref: GARD:10539 xref: ICD10CM:G24.1 xref: MESH:C567430 xref: MIM:612067 xref: ORDO:210571 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050837 ! multifocal dystonia [Term] id: DOID:0090049 name: paroxysmal nonkinesigenic dyskinesia 1 def: "A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35." [url:https\://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia, url:https\://www.ncbi.nlm.nih.gov/pubmed/28090678] subset: DO_rare_slim xref: ICD10CM:G24.8 xref: MIM:118800 xref: ORDO:98810 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090050 name: dystonia 27 def: "A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26004199, url:https\://www.omim.org/entry/616411] subset: DO_rare_slim xref: ICD10CM:G24.1 xref: MIM:616411 xref: ORDO:464440 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050838 ! segmental dystonia [Term] id: DOID:0090051 name: dystonia 23 def: "A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25296916, url:https\://www.omim.org/entry/614860] subset: DO_rare_slim xref: ICD10CM:G24.8 xref: MIM:614860 xref: ORDO:420492 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050836 ! focal dystonia [Term] id: DOID:0090052 name: dystonia 24 def: "A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30455893, url:https\://www.omim.org/entry/615034] subset: DO_rare_slim xref: ICD10CM:G24.8 xref: MIM:615034 xref: ORDO:420485 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050836 ! focal dystonia [Term] id: DOID:0090053 name: episodic kinesigenic dyskinesia 1 def: "A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11." [url:https\://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia, url:https\://www.omim.org/entry/128200] subset: DO_rare_slim synonym: "Paroxysmal kinesigenic choreoathetosis" EXACT [] xref: GARD:8721 xref: ICD10CM:G24.8 xref: MIM:128200 xref: ORDO:98809 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090054 name: episodic kinesigenic dyskinesia 2 def: "A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1." [url:https\://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia] subset: DO_rare_slim xref: ICD10CM:G24.8 xref: MESH:C567026 xref: MIM:611031 xref: ORDO:98809 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090055 name: dystonia 25 def: "A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28283962, url:https\://www.ncbi.nlm.nih.gov/pubmed/30660597, url:https\://www.omim.org/entry/615073] subset: DO_rare_slim xref: ICD10CM:G24.1 xref: MIM:615073 xref: ORDO:329466 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050837 ! multifocal dystonia [Term] id: DOID:0090056 name: dystonia 12 def: "A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13." [url:https\://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism, url:https\://www.omim.org/entry/128235] subset: DO_rare_slim xref: ICD10CM:G24.1 xref: MESH:C538001 xref: MIM:128235 xref: ORDO:71517 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090057 name: X-linked dystonia-parkinsonism def: "A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1." [url:https\://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism, url:https\://www.omim.org/entry/314250] subset: DO_rare_slim xref: GARD:10533 xref: ICD10CM:G24.1 xref: MIM:314250 xref: ORDO:53351 is_a: DOID:0050836 ! focal dystonia is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0090058 name: torsion dystonia with onset in infancy def: "A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8916165] subset: DO_rare_slim xref: ICD10CM:G24.1 xref: MESH:C536969 xref: MIM:602554 xref: ORDO:256 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050835 ! generalized dystonia [Term] id: DOID:0090059 name: enhanced S-cone syndrome def: "A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30900587, url:https\://www.omim.org/entry/268100] xref: MESH:C564835 xref: MIM:268100 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5679 ! retinal disease [Term] id: DOID:0090060 name: Wolcott-Rallison syndrome def: "A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30906465, url:https\://www.omim.org/entry/226980] subset: DO_rare_slim xref: ICD10CM:E13 xref: MESH:C536739 xref: MIM:226980 xref: ORDO:1667 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0090061 name: familial cold autoinflammatory syndrome def: "A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." [url:https\://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome, url:https\://rarediseases.org/rare-diseases/familial-cold-autoinflammatory-syndrome/, url:https\://www.nomidalliance.org/fcas.php] subset: DO_rare_slim synonym: "FCAS" EXACT OMO:0003012 [] xref: ICD10CM:L50.2 xref: MIM:PS120100 xref: ORDO:47045 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0090062 name: familial cold autoinflammatory syndrome 1 def: "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11687797] subset: DO_rare_slim synonym: "FCAS1" EXACT OMO:0003012 [] xref: ICD10CM:L50.2 xref: MIM:120100 xref: ORDO:47045 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090061 ! familial cold autoinflammatory syndrome [Term] id: DOID:0090063 name: familial cold autoinflammatory syndrome 2 def: "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18230725] synonym: "FCAS2" EXACT OMO:0003012 [] synonym: "NLRP12-associated hereditary periodic fever syndrome" EXACT [] xref: MESH:C567090 xref: MIM:611762 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090061 ! familial cold autoinflammatory syndrome [Term] id: DOID:0090064 name: familial cold autoinflammatory syndrome 3 def: "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22236196] subset: DO_rare_slim synonym: "FACU" EXACT OMO:0003012 [] synonym: "familial atypical cold urticaria" EXACT [] synonym: "FCAS3" EXACT OMO:0003012 [] synonym: "phospholipase C gamma 2-associated antibody deficiency and immune dysregulation" EXACT [] synonym: "PLAID" EXACT OMO:0003012 [] synonym: "PLCG2-associated antibody deficiency and immune dysregulation" EXACT [] xref: ICD10CM:L50.2 xref: MIM:614468 xref: ORDO:300359 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090061 ! familial cold autoinflammatory syndrome [Term] id: DOID:0090065 name: familial cold autoinflammatory syndrome 4 def: "A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25385754] subset: DO_rare_slim synonym: "FCAS4" EXACT OMO:0003012 [] xref: ICD10CM:L50.2 xref: MIM:616115 xref: ORDO:47045 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090061 ! familial cold autoinflammatory syndrome [Term] id: DOID:0090066 name: Fanconi-like syndrome def: "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies." [url:https\://www.ncbi.nlm.nih.gov/pubmed/4692131] xref: MESH:C536855 xref: MIM:227850 is_a: DOID:225 ! syndrome [Term] id: DOID:0090067 name: Fuhrmann syndrome def: "A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28917830, url:https\://www.omim.org/entry/228930] subset: DO_rare_slim xref: GARD:2410 xref: ICD10CM:Q74.8 xref: MESH:C538189 xref: MIM:228930 xref: ORDO:2854 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080006 ! bone development disease [Term] id: DOID:0090068 name: giant axonal neuropathy 1 def: "An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23." [url:https\://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/30709364, url:https\://www.omim.org/entry/256850] subset: DO_rare_slim xref: MESH:D056768 xref: MIM:256850 xref: ORDO:643 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:7319 ! axonal neuropathy [Term] id: DOID:0090069 name: giant axonal neuropathy 2 def: "An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23." [url:https\://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/24500646, url:https\://www.omim.org/entry/610100] xref: MIM:610100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:7319 ! axonal neuropathy [Term] id: DOID:0090070 name: hypogonadotropic hypogonadism alt_id: DOID:7455 def: "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17761590] subset: DO_rare_slim synonym: "congenital idiopathic hypogonadotropic hypogonadism" EXACT [] synonym: "hypogonadotropism" EXACT [] synonym: "isolated congenital gonadotropin deficiency" EXACT [] xref: ICD10CM:E23.0 xref: MIM:PS147950 xref: ORDO:432 xref: ORDO:478 is_a: DOID:1924 ! hypogonadism [Term] id: DOID:0090071 name: hypogonadotropic hypogonadism 11 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19079066] xref: ICD10CM:E23.0 xref: MIM:614840 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090072 name: hypogonadotropic hypogonadism 12 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19535795] synonym: "familial hypogonadotrophic eunuchoidism" EXACT [] synonym: "familial idiopathic gonadotrpin deficiency" EXACT [] xref: ICD10CM:E23.0 xref: MIM:614841 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090073 name: hypogonadotropic hypogonadism 13 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22335740] xref: ICD10CM:E23.0 xref: MIM:614842 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090074 name: hypogonadotropic hypogonadism 8 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14573733, url:https\://www.ncbi.nlm.nih.gov/pubmed/23643382] xref: ICD10CM:E23.0 xref: MIM:614837 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090075 name: hypogonadotropic hypogonadism 15 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21700882, url:https\://www.ncbi.nlm.nih.gov/pubmed/23643382] xref: ICD10CM:E23.0 xref: MIM:614880 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090076 name: hypogonadotropic hypogonadism 18 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23643382] xref: ICD10CM:E23.0 xref: MIM:615267 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090077 name: hypogonadotropic hypogonadism 4 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17054399, url:https\://www.ncbi.nlm.nih.gov/pubmed/18559922] xref: ICD10CM:E23.0 xref: MIM:610628 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090078 name: hypogonadotropic hypogonadism 7 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17235395, url:https\://www.ncbi.nlm.nih.gov/pubmed/9371856] xref: ICD10CM:E23.0 xref: MIM:146110 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090079 name: hypogonadotropic hypogonadism 17 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23643382] xref: ICD10CM:E23.0 xref: MIM:615266 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090080 name: hypogonadotropic hypogonadism 16 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22416012, url:https\://www.ncbi.nlm.nih.gov/pubmed/22927827] xref: ICD10CM:E23.0 xref: MIM:614897 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090081 name: hypogonadotropic hypogonadism 22 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25192046] xref: ICD10CM:E23.0 xref: MIM:616030 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090082 name: hypogonadotropic hypogonadism 20 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23643382] xref: ICD10CM:E23.0 xref: MIM:615270 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090083 name: hypogonadotropic hypogonadism 2 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12627230, url:https\://www.ncbi.nlm.nih.gov/pubmed/20696889] xref: ICD10CM:E23.0 xref: MIM:147950 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090084 name: hypogonadotropic hypogonadism 5 with or without anosmia def: "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18834967] xref: ICD10CM:E23.0 xref: MIM:612370 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090085 name: hypogonadotropic hypogonadism 9 with or without anosmia def: "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15362570, url:https\://www.ncbi.nlm.nih.gov/pubmed/17235395] xref: ICD10CM:E23.0 xref: MIM:614838 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090086 name: hypogonadotropic hypogonadism 6 with or without anosmia def: "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18596921] xref: ICD10CM:E23.0 xref: MIM:612702 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090087 name: hypogonadotropic hypogonadism 14 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20887964] xref: ICD10CM:E23.0 xref: MIM:614858 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090088 name: hypogonadotropic hypogonadism 24 without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8220432, url:https\://www.ncbi.nlm.nih.gov/pubmed/9271483] subset: DO_rare_slim synonym: "isolated follicle-stimulating hormone deficiency" EXACT [] xref: ICD10CM:E23.6 xref: MIM:229070 xref: ORDO:52901 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090089 name: hypogonadotropic hypogonadism 10 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19079066] xref: ICD10CM:E23.0 xref: MIM:614839 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090090 name: hypogonadotropic hypogonadism 19 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23643382] xref: ICD10CM:E23.0 xref: MIM:615269 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090091 name: hypogonadotropic hypogonadism 23 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1727547, url:https\://www.ncbi.nlm.nih.gov/pubmed/22723313] subset: DO_rare_slim synonym: "46,XY disorder of sex development due to LHB deficiency" EXACT [] synonym: "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" EXACT [] synonym: "46,XY DSD due to LHB deficiency" EXACT [] synonym: "46,XY DSD due to luteinizing hormone subunit beta deficiency" EXACT [] synonym: "fertile eunuch syndrome" EXACT [] synonym: "leydig cell hypoplasia due to LHB deficiency" EXACT [] synonym: "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" EXACT [] synonym: "Pasqualini syndrome" EXACT [] xref: ICD10CM:Q56.1 xref: MIM:228300 xref: ORDO:325448 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090092 name: hypogonadotropic hypogonadism 3 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17054399, url:https\://www.ncbi.nlm.nih.gov/pubmed/18559922] xref: ICD10CM:E23.0 xref: MIM:244200 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090093 name: hypogonadotropic hypogonadism 21 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23643382] xref: ICD10CM:E23.0 xref: MIM:615271 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090094 name: hypogonadotropic hypogonadism 1 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1594017, url:https\://www.ncbi.nlm.nih.gov/pubmed/16882753, url:https\://www.ncbi.nlm.nih.gov/pubmed/17054399] synonym: "dysplasia olfactogenitalis of de morsier" EXACT [] xref: ICD10CM:E23.0 xref: MIM:308700 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090100 name: ocular albinism with sensorineural deafness def: "An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates." [url:https\://ghr.nlm.nih.gov/condition/ocular-albinism, url:https\://www.ncbi.nlm.nih.gov/pubmed/28356565, url:https\://www.ncbi.nlm.nih.gov/pubmed/29531335, url:https\://www.omim.org/entry/103470] subset: DO_rare_slim synonym: "autosomal recessive Waardenburg syndrome type 2 with ocular albinism" EXACT [] synonym: "digenic Waardenburg syndrome/albinism" EXACT [] synonym: "digenic Waardenburg syndrome/ocular albinism" EXACT [] synonym: "WS2-OA" EXACT OMO:0003012 [] xref: ICD10CM:E70.3 xref: ORDO:352740 is_a: DOID:0050633 ! ocular albinism 1 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0090101 name: lethal congenital glycogen storage disease of heart def: "A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36." [url:https\://ghr.nlm.nih.gov/gene/PRKAG2#conditions, url:https\://www.omim.org/entry/261740] subset: DO_rare_slim synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogenosis" EXACT [] synonym: "fatal congenital hypertrophic cardiomyopathy due to GSD" EXACT [] synonym: "fatal congenital nonlysosomal cardiac glycogenosis" EXACT [] synonym: "phosphorylase kinase deficiency of heart" EXACT [] xref: ICD10CM:E74.0+ xref: ICD10CM:G73.6* xref: MIM:261740 xref: ORDO:439854 is_a: DOID:0080015 ! physical disorder is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:0090102 name: autosomal dominant isolated macrothrombocytopenia 1 def: "A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27291889, url:https\://www.ncbi.nlm.nih.gov/pubmed/27905099, url:https\://www.omim.org/entry/613112] subset: DO_rare_slim synonym: "MACTHC1" EXACT OMO:0003012 [] xref: ICD10CM:D69.4 xref: MIM:613112 xref: ORDO:140957 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:0090103 name: Huntington's disease-like 1 def: "A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13." [url:https\://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome, url:https\://www.omim.org/entry/603218] subset: DO_infectious_disease_slim subset: DO_rare_slim synonym: "autosomal dominant Huntington-like neurodegenerative disorder" EXACT [] synonym: "early-onset prion disease with prominent psychiatric features" EXACT [] synonym: "HDL1" EXACT OMO:0003012 [] synonym: "HLN1" EXACT OMO:0003012 [] synonym: "Huntington disease-like 1" EXACT [] synonym: "Huntington-like neurodegenerative disorder 1" EXACT [] xref: ICD10CM:G10 xref: MIM:603218 xref: ORDO:157941 is_a: DOID:649 ! prion disease [Term] id: DOID:0090104 name: Huntington's disease-like 2 def: "A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24." [url:https\://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome, url:https\://www.omim.org/entry/606438] subset: DO_rare_slim synonym: "HDL2" EXACT OMO:0003012 [] synonym: "Huntington disease-like 2" EXACT [] xref: ICD10CM:G10 xref: MIM:606438 xref: ORDO:98934 is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:0090105 name: autosomal recessive hypercholesterolemia def: "A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36." [url:https\://ghr.nlm.nih.gov/condition/hypercholesterolemia, url:https\://www.omim.org/entry/603813] subset: DO_rare_slim synonym: "ARH" EXACT OMO:0003012 [] synonym: "ARH1" EXACT OMO:0003012 [] synonym: "ARH2" EXACT OMO:0003012 [] synonym: "autosomal recessive hypercholesterolemia 1" EXACT [] synonym: "autosomal recessive hypercholesterolemia 2" EXACT [] synonym: "familial autosomal recessive hypercholesterolemia" EXACT [] synonym: "FHCB1" EXACT OMO:0003012 [] synonym: "FHCB2" EXACT OMO:0003012 [] xref: ICD10CM:E78.0 xref: MIM:603813 xref: ORDO:391665 is_a: DOID:13810 ! familial hypercholesterolemia [Term] id: DOID:0090106 name: BH4-deficient hyperphenylalaninemia A def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1." [url:https\://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency, url:https\://www.omim.org/entry/261640] subset: DO_rare_slim subset: NCIthesaurus synonym: "6-pyruvoyl-tetrahydropterin synthase deficiency" EXACT [] synonym: "HPABH4A" EXACT OMO:0003012 [] synonym: "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency" EXACT [] synonym: "PTS deficiency" EXACT [] synonym: "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency" EXACT [] xref: GARD:5682 xref: MESH:C535325 xref: MIM:261640 xref: NCI:C138171 xref: ORDO:13 xref: SNOMEDCT_US_2023_03_01:237914002 xref: UMLS_CUI:C0878676 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia [Term] id: DOID:0090107 name: autosomal dominant hypocalcemia 1 def: "An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21." [url:https\://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia] synonym: "HYPOC1" EXACT OMO:0003012 [] xref: MIM:601198 is_a: DOID:0090109 ! autosomal dominant hypocalcemia [Term] id: DOID:0090108 name: autosomal dominant hypocalcemia 2 def: "An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13." [url:https\://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia] synonym: "HYPOC2" EXACT OMO:0003012 [] xref: MIM:615361 is_a: DOID:0090109 ! autosomal dominant hypocalcemia [Term] id: DOID:0090109 name: autosomal dominant hypocalcemia def: "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone." [url:https\://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia, url:https\://www.ncbi.nlm.nih.gov/pubmed/27803672] subset: DO_rare_slim synonym: "HYPOC" EXACT OMO:0003012 [] xref: GARD:2877 xref: ICD10CM:E20.8 xref: MIM:PS601198 xref: ORDO:428 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0090110 name: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome def: "An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11." [url:https\://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome, url:https\://www.omim.org/entry/304790] subset: DO_rare_slim synonym: "Autoimmune enteropathy type 1" EXACT [] synonym: "autoimmunity-immunodeficiency syndrome, X-linked" EXACT [] synonym: "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea" EXACT [] synonym: "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked" EXACT [] synonym: "DMSD" EXACT OMO:0003012 [] synonym: "IDDM-secretory diarrhea syndrome" EXACT [] synonym: "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked" EXACT [] synonym: "immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked" EXACT [] synonym: "IPEX" EXACT OMO:0003012 [] synonym: "X-linked autoimmunity-allergic dysregulation syndrome" EXACT [] synonym: "XLAAD" EXACT OMO:0003012 [] synonym: "XPID" EXACT OMO:0003012 [] xref: GARD:1850 xref: ICD10CM:E31.0 xref: MESH:C580192 xref: MIM:304790 xref: ORDO:37042 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:417 ! autoimmune disease [Term] id: DOID:0090111 name: PCWH syndrome def: "A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13." [url:https\://ghr.nlm.nih.gov/gene/SOX10#conditions, url:https\://www.omim.org/entry/609136] subset: DO_rare_slim synonym: "Neurologic Waardenburg-Shah syndrome" EXACT [] synonym: "PCWH" EXACT OMO:0003012 [] synonym: "Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease" EXACT [] synonym: "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome" EXACT [] xref: ICD10CM:E75.2 xref: MIM:609136 xref: ORDO:163746 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0090112 name: Nasu-Hakola disease def: "A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21." [url:https\://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/30042649, url:https\://www.omim.org/entry/221770] subset: DO_rare_slim synonym: "NHD" EXACT OMO:0003012 [] synonym: "PLO-SL" EXACT OMO:0003012 [] synonym: "PLOSL" EXACT OMO:0003012 [] synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" EXACT [] synonym: "presenile dementia with bone cysts" EXACT [] synonym: "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease" EXACT [] xref: GARD:9921 xref: MESH:C536329 xref: MIM:221770 xref: ORDO:2770 xref: SNOMEDCT_US_2023_03_01:702347001 xref: UMLS_CUI:C1857316 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0090113 name: RIDDLE syndrome def: "A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29255463, url:https\://www.ncbi.nlm.nih.gov/pubmed/30122534, url:https\://www.omim.org/entry/611943] subset: DO_rare_slim synonym: "Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome" EXACT [] synonym: "RNF168 deficiency" EXACT [] xref: ICD10CM:D82.8 xref: MESH:C567453 xref: MIM:611943 xref: ORDO:420741 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0090114 name: Sorsby's fundus dystrophy def: "A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26077580, url:https\://www.ncbi.nlm.nih.gov/pubmed/26239453, url:https\://www.omim.org/entry/136900] synonym: "hemorrhagic macular dystrophy" EXACT [] synonym: "pseudoinflammatory fundus dystrophy of Sorsby" EXACT [] synonym: "SFD" EXACT OMO:0003012 [] xref: MIM:136900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:8500 ! hereditary retinal dystrophy [Term] id: DOID:0090115 name: spinocerebellar ataxia with axonal neuropathy 1 def: "A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11." [url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94124] subset: DO_rare_slim synonym: "autosomal recessive spinocerebellar ataxia with axonal neuropathy 1" EXACT [] synonym: "SCAN1" EXACT OMO:0003012 [] synonym: "spinocerebellar ataxia with axonal neuropathy type 1" EXACT [] xref: GARD:10000 xref: ICD10CM:G60.2 xref: MIM:607250 xref: ORDO:94124 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0090116 name: spondylocarpotarsal synostosis syndrome def: "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3." [url:https\://ghr.nlm.nih.gov/condition/spondylocarpotarsal-synostosis-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/29566257] subset: DO_rare_slim synonym: "congenital scoliosis with unilateral unsegmented bar" EXACT [] synonym: "congenital synspondylism" EXACT [] synonym: "SCT" EXACT OMO:0003012 [] synonym: "spondylocarpotarsal syndrome" EXACT [] synonym: "spondylocarpotarsal synostosis" EXACT [] synonym: "vertebral fusion with carpal coalition" EXACT [] xref: GARD:4974 xref: ICD10CM:Q76.4 xref: MIM:272460 xref: ORDO:3275 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060564 ! spinal disease is_a: DOID:0080006 ! bone development disease [Term] id: DOID:0090117 name: thiamine-responsive megaloblastic anemia syndrome def: "A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24." [url:https\://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1282/, url:https\://www.omim.org/entry/249270] subset: DO_rare_slim synonym: "Rogers syndrome" EXACT [] synonym: "thiamine metabolism dysfunction syndrome 1" EXACT [] synonym: "thiamine-responsive anaemia syndrome" EXACT [] synonym: "thiamine-responsive anemia syndrome" EXACT [] synonym: "thiamine-responsive megaloblastic anaemia syndrome" EXACT [] synonym: "thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness" EXACT [] synonym: "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness" EXACT [] synonym: "thiamine-responsive myelodysplasia" EXACT [] synonym: "THMD1" EXACT OMO:0003012 [] synonym: "TRMA" EXACT OMO:0003012 [] xref: GARD:9210 xref: MESH:C536510 xref: MIM:249270 xref: ORDO:498277 xref: SNOMEDCT_US_2023_03_01:237617006 xref: UMLS_CUI:C0342287 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0090118 name: congenital amegakaryocytic thrombocytopenia def: "A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29191945, url:https\://www.ncbi.nlm.nih.gov/pubmed/29384262, url:https\://www.omim.org/entry/604498] subset: DO_rare_slim subset: NCIthesaurus synonym: "CAMT" EXACT OMO:0003012 [] synonym: "congenital amegakaryocytic thrombocytopenic purpura" EXACT [] xref: GARD:640 xref: MESH:C535982 xref: MIM:604498 xref: NCI:C115207 xref: ORDO:3319 xref: SNOMEDCT_US_2023_03_01:716336002 xref: UMLS_CUI:C1327915 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:0090119 name: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome def: "An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27." [url:https\://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/29339502, url:https\://www.ncbi.nlm.nih.gov/pubmed/29956718] subset: DO_rare_slim synonym: "AEC syndrome" EXACT [] synonym: "ankyloblepharon-ectodermal defects-cleft lip and palate syndrome" EXACT [] synonym: "Hay-Wells syndrome" EXACT [] xref: MESH:C535289 xref: MIM:106260 xref: ORDO:1071 xref: SNOMEDCT_US_2023_03_01:7731005 xref: UMLS_CUI:C1785148 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0090120 name: hereditary neutrophilia def: "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25189721, url:https\://www.omim.org/entry/162830] subset: DO_rare_slim xref: MESH:C563010 xref: MIM:162830 xref: ORDO:279943 xref: SNOMEDCT_US_2023_03_01:129639005 xref: UMLS_CUI:C0543669 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:0090121 name: obsolete apparent mineralocorticoid excess def: "An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16." [] synonym: "Ulick syndrome" EXACT [] is_obsolete: true [Term] id: DOID:0090122 name: aromatase excess syndrome def: "A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene." [url:https\://ghr.nlm.nih.gov/condition/aromatase-excess-syndrome, url:https\://www.omim.org/entry/139300] subset: DO_rare_slim synonym: "AEXS" EXACT OMO:0003012 [] synonym: "familial hyperestrogenism" EXACT [] synonym: "hereditary prepubertal gynecomastia" EXACT [] synonym: "increased aromatase activity" EXACT [] xref: GARD:12949 xref: ICD10CM:E30.1 xref: MIM:139300 xref: ORDO:178345 is_a: DOID:15 ! reproductive system disease [Term] id: DOID:0090123 name: aromatic L-amino acid decarboxylase deficiency def: "An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12." [url:https\://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency, url:https\://www.omim.org/entry/608643] subset: DO_rare_slim subset: NCIthesaurus synonym: "AADC deficiency" EXACT [] xref: GARD:770 xref: ICD10CM:E70.81 xref: MESH:C537437 xref: MIM:608643 xref: NCI:C142085 xref: ORDO:35708 xref: SNOMEDCT_US_2023_03_01:124600004 xref: UMLS_CUI:C1291564 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0090124 name: neurogenic-type arthrogryposis multiplex congenita-2 def: "An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28317099, url:https\://www.omim.org/entry/208100] subset: DO_rare_slim synonym: "AMC neurogenic type" EXACT [] synonym: "AMC2" EXACT OMO:0003012 [] synonym: "AMCN" EXACT OMO:0003012 [] synonym: "arthrogryposis multiplex congenita 2, neurogenic type" EXACT [] synonym: "arthrogryposis multiplex congenita neurogenic type" EXACT [] xref: MESH:C536614 xref: MIM:208100 xref: ORDO:1143 xref: SNOMEDCT_US_2023_03_01:715316005 xref: UMLS_CUI:C1859721 is_a: DOID:0080954 ! arthrogryposis multiplex congenita [Term] id: DOID:0090125 name: brain small vessel disease 1 def: "A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34." [url:https\://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease, url:https\://ghr.nlm.nih.gov/condition/familial-porencephaly, url:https\://www.omim.org/entry/175780] subset: DO_rare_slim synonym: "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy" EXACT [] synonym: "brain small vessel disease with Axenfeld-Riegar anomaly" EXACT [] synonym: "brain small vessel disease with hemorrhage" EXACT [] synonym: "brain small vessel disease with or without ocular anomalies" EXACT [] synonym: "BSVD1" EXACT OMO:0003012 [] synonym: "COL4A1-related brain small vessel disease with hemorrhage" EXACT [] synonym: "COL4A1-related familial vascular leukoencephalopathy" EXACT [] synonym: "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome" EXACT [] synonym: "infantile hemiparesis" EXACT [] synonym: "leukoencephalopathy with Axenfeld-Riegar anomaly" EXACT [] xref: MIM:175780 xref: ORDO:36383 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112313 ! brain small vessel disease [Term] id: DOID:0090126 name: branched-chain keto acid dehydrogenase kinase deficiency def: "An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24449431, url:https\://www.omim.org/entry/614901] subset: DO_rare_slim synonym: "autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" EXACT [] synonym: "BCKDK deficiency" EXACT [] synonym: "BCKDKD" EXACT OMO:0003012 [] xref: ICD10CM:E71.1 xref: MIM:614923 xref: ORDO:308410 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0090127 name: camptodactyly-arthropathy-coxa vara-pericarditis syndrome def: "A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29397575, url:https\://www.omim.org/entry/208250] subset: DO_rare_slim synonym: "arthropathy-camptodactyly syndrome" EXACT [] synonym: "CACP" EXACT OMO:0003012 [] synonym: "CACP syndrome" EXACT [] synonym: "camptodactyly-arthropathy-pericarditis syndrome" EXACT [] synonym: "CAP syndrome" EXACT [] synonym: "congenital familial hypertrophic synovitis" EXACT [] synonym: "familial fibrosing serositis" EXACT [] synonym: "Jacobs syndrome" EXACT [] synonym: "PAC syndrome" EXACT [] synonym: "pericarditis-arthropathy-camptodactyly syndrome" EXACT [] xref: MESH:C537560 xref: MIM:208250 xref: ORDO:2848 xref: SNOMEDCT_US_2023_03_01:771187008 xref: UMLS_CUI:C1859690 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0090128 name: Carvajal syndrome def: "A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24." [url:https\://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair, url:https\://www.omim.org/entry/605676] subset: DO_rare_slim synonym: "DCWHK" EXACT OMO:0003012 [] synonym: "dilated cardiomyopathy with woolly hair and keratoderma" EXACT [] synonym: "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair" EXACT [] xref: GARD:5595 xref: MESH:C535581 xref: MIM:605676 xref: ORDO:65282 is_a: DOID:0080551 ! Naxos disease [Term] id: DOID:0090129 name: carnitine palmitoyltransferase I deficiency def: "A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13." [url:https\://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency, url:https\://www.omim.org/entry/255120] subset: DO_rare_slim synonym: "carnitine palmitoyl transferase 1A deficiency" EXACT [] synonym: "carnitine palmitoyl transferase IA deficiency" EXACT [] synonym: "CPT I deficiency" EXACT [] synonym: "CPT1A deficiency" EXACT [] synonym: "hepatic carnitine palmitoyl transferase 1 deficiency" EXACT [] synonym: "hepatic carnitine palmitoyl transferase I deficiency" EXACT [] synonym: "hepatic CPT deficiency type I" EXACT [] synonym: "L-CPT1 deficiency" EXACT [] xref: GARD:1120 xref: ICD10CM:E71.3 xref: MIM:255120 xref: ORDO:156 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0090130 name: cortical dysplasia-focal epilepsy syndrome def: "A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27439707, url:https\://www.omim.org/entry/610042] subset: DO_rare_slim synonym: "CDFE syndrome" EXACT [] synonym: "CDFES" EXACT OMO:0003012 [] synonym: "Pitt-Hopkins-like syndrome-1" EXACT [] synonym: "PTHSL1" EXACT OMO:0003012 [] xref: ICD10CM:Q04.8 xref: MESH:C567657 xref: MIM:610042 xref: ORDO:163681 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:936 ! brain disease [Term] id: DOID:0090131 name: complex cortical dysplasia with other brain malformations def: "A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20829227] synonym: "CDCBM" EXACT OMO:0003012 [] xref: MIM:PS614039 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:936 ! brain disease [Term] id: DOID:0090132 name: complex cortical dysplasia with other brain malformations 7 def: "A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25." [url:https\://ghr.nlm.nih.gov/condition/polymicrogyria, url:https\://www.ncbi.nlm.nih.gov/pubmed/30016746, url:https\://www.omim.org/entry/610031] subset: DO_rare_slim synonym: "CDCBM7" EXACT OMO:0003012 [] synonym: "polymicrogyria due to TUBB2B mutation" EXACT [] xref: MIM:610031 xref: ORDO:300573 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0090133 name: complex cortical dysplasia with other brain malformations 2 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23." [url:https\://www.ncbi.nlm.nih.gov/books/NBK350554/, url:https\://www.ncbi.nlm.nih.gov/pubmed/29048727, url:https\://www.omim.org/entry/615282] synonym: "CDCBM2" EXACT OMO:0003012 [] xref: MIM:615282 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0090134 name: complex cortical dysplasia with other brain malformations 3 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12." [url:https\://www.ncbi.nlm.nih.gov/books/NBK350554/, url:https\://www.ncbi.nlm.nih.gov/pubmed/29077851, url:https\://www.omim.org/entry/615411] synonym: "CDCBM3" EXACT OMO:0003012 [] xref: MIM:615411 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0090135 name: complex cortical dysplasia with other brain malformations 5 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25." [url:https\://www.ncbi.nlm.nih.gov/books/NBK350554/, url:https\://www.omim.org/entry/615763] synonym: "CDCBM5" EXACT OMO:0003012 [] xref: MIM:615763 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0090136 name: complex cortical dysplasia with other brain malformations 6 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30936767, url:https\://www.omim.org/entry/615771] synonym: "CDCBM56" EXACT OMO:0003012 [] xref: MIM:615771 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0090137 name: complex cortical dysplasia with other brain malformations 1 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3." [url:https\://www.ncbi.nlm.nih.gov/books/NBK350554/, url:https\://www.ncbi.nlm.nih.gov/pubmed/30016746, url:https\://www.omim.org/entry/614039] subset: DO_rare_slim synonym: "CDCBM1" EXACT OMO:0003012 [] synonym: "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation" EXACT [] xref: ICD10CM:Q04.3 xref: MIM:614039 xref: ORDO:300570 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0090138 name: complex cortical dysplasia with other brain malformations 4 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21." [url:https\://www.ncbi.nlm.nih.gov/books/NBK350554/, url:https\://www.omim.org/entry/615412] synonym: "CDCBM4" EXACT OMO:0003012 [] xref: MIM:615412 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0090139 name: cortisone reductase deficiency def: "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism." [url:https\://en.wikipedia.org/wiki/Cortisone_reductase_deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/22476103] subset: DO_rare_slim synonym: "CORTRD" EXACT OMO:0003012 [] xref: GARD:9882 xref: MESH:C536447 xref: MIM:PS604931 is_a: DOID:28 ! endocrine system disease [Term] id: DOID:0090140 name: cortisone reductase deficiency 2 def: "A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29843121, url:https\://www.omim.org/entry/614662] subset: NCIthesaurus synonym: "CORTRD2" EXACT OMO:0003012 [] xref: MIM:614662 xref: NCI:C131084 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090139 ! cortisone reductase deficiency [Term] id: DOID:0090141 name: cortisone reductase deficiency 1 def: "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29843121, url:https\://www.omim.org/entry/604931] subset: NCIthesaurus synonym: "CORTRD1" EXACT OMO:0003012 [] xref: MIM:604931 xref: NCI:C131849 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090139 ! cortisone reductase deficiency [Term] id: DOID:0090142 name: cystathioninuria def: "An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20584029, url:https\://www.omim.org/entry/219500] subset: DO_rare_slim subset: NCIthesaurus synonym: "cystathionase deficiency" EXACT [] synonym: "cystathione gamma-lyase deficiency syndrome" EXACT [] synonym: "gamma-cystathionase deficiency" EXACT [] xref: GARD:2428 xref: ICD10CM:E72.19 xref: MESH:C535408 xref: MIM:219500 xref: NCI:C129070 xref: ORDO:212 xref: SNOMEDCT_US_2023_03_01:13003007 xref: SNOMEDCT_US_2023_03_01:6885006 xref: UMLS_CUI:C0220993 xref: UMLS_CUI:C0268616 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0090143 name: brachyolmia-amelogenesis imperfecta syndrome def: "A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30887145, url:https\://www.omim.org/entry/601216] subset: DO_rare_slim synonym: "DASS" EXACT OMO:0003012 [] synonym: "dental anomalies and short stature" EXACT [] synonym: "platyspondyly with amelogenesis imperfecta" EXACT [] synonym: "selective tooth agenesis 5" EXACT [] synonym: "STHAG6" EXACT OMO:0003012 [] xref: GARD:5478 xref: ICD10CM:Q76.3 xref: MIM:601216 xref: ORDO:2899 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0090144 name: Donnai-Barrow syndrome def: "A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31." [url:https\://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome, url:https\://www.omim.org/entry/222448] subset: DO_rare_slim synonym: "DBS/FOAR syndrome" EXACT [] synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria" EXACT [] synonym: "diaphragmatic hernia-exomphalos-hypertelorism syndrome" EXACT [] synonym: "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome" EXACT [] synonym: "facio-oculo-acoustico-renal syndrome" EXACT [] synonym: "faciooculoacousticorenal syndrome" EXACT [] synonym: "FOAR syndrome" EXACT [] synonym: "Holmes-Schepens syndrome" EXACT [] synonym: "syndrome of ocular and facial anomalies, telecanthus and deafness" EXACT [] xref: GARD:1899 xref: MESH:C536390 xref: MIM:222448 xref: ORDO:2143 xref: SNOMEDCT_US_2023_03_01:702418009 xref: UMLS_CUI:C1857277 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0090145 name: dopamine beta-hydroxylase deficiency def: "An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34." [url:https\://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency, url:https\://www.omim.org/entry/223360] subset: DO_rare_slim synonym: "congenital dopamine beta-hydroxylase deficiency" EXACT [] synonym: "noradrenaline deficiency" EXACT [] synonym: "norepinephrine deficiency" EXACT [] xref: GARD:1903 xref: MESH:C535600 xref: MIM:223360 xref: ORDO:230 xref: SNOMEDCT_US_2023_03_01:237923004 xref: UMLS_CUI:C0342687 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:863 ! nervous system disease [Term] id: DOID:0110000 name: 3-methylglutaconic aciduria type 5 def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16055927] subset: DO_rare_slim synonym: "3-methylglutaconic aciduria type V" EXACT [] synonym: "DCMA" EXACT OMO:0003012 [] synonym: "DCMA syndrome" EXACT [] synonym: "dilated cardiomyopathy with ataxia" EXACT [] synonym: "MGA5" EXACT OMO:0003012 [] synonym: "MGCA5" EXACT OMO:0003012 [] xref: MIM:610198 xref: ORDO:66634 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria [Term] id: DOID:0110001 name: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22683713] subset: DO_rare_slim synonym: "3-methylglutaconic aciduria type 6" EXACT [] synonym: "MEGDEL" EXACT OMO:0003012 [] synonym: "MEGDEL syndrome" EXACT [] synonym: "MGCA6" EXACT OMO:0003012 [] xref: MIM:614739 xref: ORDO:352328 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria [Term] id: DOID:0110002 name: 3-methylglutaconic aciduria type 1 def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22." [url:https\://pubmed.ncbi.nlm.nih.gov/12434311/] subset: DO_rare_slim synonym: "3-methylglutaconic aciduria type I" EXACT [] synonym: "3-methylglutaconyl-CoA hydratase deficiency" EXACT [] synonym: "3MG-CoA hydratase deficiency" EXACT [] synonym: "MGA type I" EXACT [] synonym: "MGA1" EXACT OMO:0003012 [] xref: MESH:C562801 xref: MIM:250950 xref: ORDO:67046 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria [Term] id: DOID:0110003 name: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25597510] subset: DO_rare_slim synonym: "3-methylglutaconic aciduria type 7" EXACT [] synonym: "3-methylglutaconic aciduria type VII" EXACT [] synonym: "MEGCANN" EXACT OMO:0003012 [] synonym: "MGA7" EXACT OMO:0003012 [] synonym: "MGCA7" EXACT OMO:0003012 [] xref: MIM:616271 xref: ORDO:445038 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria [Term] id: DOID:0110004 name: 3-methylglutaconic aciduria type 3 def: "A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11668429, url:https\://www.ncbi.nlm.nih.gov/pubmed/12126933] subset: DO_rare_slim synonym: "3-methylglutaconic aciduria type III" EXACT [] synonym: "autosomal recessive optic atrophy plus syndrome" EXACT [] synonym: "autosomal recessive optic atrophy type 3" EXACT [] synonym: "Costeff optic atrophy syndrome" EXACT [] synonym: "Costeff syndrome" EXACT [] synonym: "infantile optic atrophy with chorea and spastic paraplegia" EXACT [] synonym: "Iraqi-Jewish optic atrophy plus" EXACT [] synonym: "MGA3" EXACT OMO:0003012 [] xref: MIM:258501 xref: ORDO:67047 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria [Term] id: DOID:0110005 name: Leber congenital amaurosis 9 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22842230] synonym: "LCA9" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:608553 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110006 name: 3-methylglutaconic aciduria type 4 def: "A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21646875] subset: DO_rare_slim synonym: "3-methylglutaconic aciduria type IV" EXACT [] synonym: "MGA type IV" EXACT [] synonym: "MGA4" EXACT OMO:0003012 [] synonym: "MGCA4" EXACT OMO:0003012 [] xref: MESH:C565393 xref: MIM:250951 xref: ORDO:67048 is_a: DOID:0060336 ! 3-methylglutaconic aciduria [Term] id: DOID:0110007 name: achromatopsia 2 def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11536077, url:https\://www.ncbi.nlm.nih.gov/pubmed/9662398] subset: DO_rare_slim synonym: "ACHM2" EXACT OMO:0003012 [] synonym: "RMCH2" EXACT OMO:0003012 [] synonym: "rod monochromacy 2" EXACT [] synonym: "rod monochromatism 2" EXACT [] xref: GARD:9649 xref: MESH:C536128 xref: MIM:216900 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13911 ! achromatopsia [Term] id: DOID:0110008 name: achromatopsia 3 def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10888875, url:https\://www.ncbi.nlm.nih.gov/pubmed/17265047] subset: DO_rare_slim synonym: "ACHM1" EXACT OMO:0003012 [] synonym: "ACHM3" EXACT OMO:0003012 [] synonym: "Pingelapese blindness" EXACT [] synonym: "RMCH1" EXACT OMO:0003012 [] synonym: "rod monochromacy 1" EXACT [] synonym: "rod monochromatism 1" EXACT [] xref: GARD:9650 xref: MESH:C536129 xref: MIM:262300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13911 ! achromatopsia [Term] id: DOID:0110009 name: achromatopsia 7 def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26029869, url:https\://www.ncbi.nlm.nih.gov/pubmed/26063662] synonym: "ACHM7" EXACT OMO:0003012 [] xref: MIM:616517 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13911 ! achromatopsia [Term] id: DOID:0110010 name: achromatopsia 4 def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12205108] synonym: "ACHM4" EXACT OMO:0003012 [] xref: MESH:C564206 xref: MIM:613856 is_a: DOID:13911 ! achromatopsia [Term] id: DOID:0110011 name: advanced sleep phase syndrome 1 def: "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11232563] synonym: "familial advanced sleep phase syndrome 1" EXACT [] synonym: "FASPS1" EXACT OMO:0003012 [] xref: MIM:604348 is_a: DOID:0050628 ! advanced sleep phase syndrome [Term] id: DOID:0110012 name: advanced sleep phase syndrome 2 def: "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15800623] synonym: "familial advanced sleep phase syndrome 2" EXACT [] synonym: "FASPS2" EXACT OMO:0003012 [] xref: MIM:615224 is_a: DOID:0050628 ! advanced sleep phase syndrome [Term] id: DOID:0110013 name: advanced sleep phase syndrome 3 def: "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26903630] synonym: "familial advanced sleep phase syndrome 3" EXACT [] synonym: "FASPS3" EXACT OMO:0003012 [] xref: MIM:616882 is_a: DOID:0050628 ! advanced sleep phase syndrome [Term] id: DOID:0110014 name: age related macular degeneration 1 def: "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14570714, url:https\://www.ncbi.nlm.nih.gov/pubmed/9715689] synonym: "age related maculopathy 1" EXACT [] synonym: "ARMD1" EXACT OMO:0003012 [] xref: MIM:603075 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110015 name: age related macular degeneration 2 def: "An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10396622] synonym: "ARMD2" EXACT OMO:0003012 [] xref: MIM:153800 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110016 name: Leber congenital amaurosis 2 def: "A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9326927] synonym: "amaurosis congenita of Leber II" EXACT [] synonym: "LCA2" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:204100 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110017 name: age related macular degeneration 4 def: "An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15761120] synonym: "ARMD4" EXACT OMO:0003012 [] xref: MIM:610698 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110018 name: age related macular degeneration 6 def: "An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15028672] synonym: "ARMD6" EXACT OMO:0003012 [] xref: MIM:613757 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110019 name: age related macular degeneration 7 def: "An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17053108] synonym: "ARMD7" EXACT OMO:0003012 [] xref: MIM:610149 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110020 name: age related macular degeneration 8 def: "An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17210852] synonym: "ARMD8" EXACT OMO:0003012 [] xref: MIM:613778 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110021 name: age related macular degeneration 9 def: "An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24036952] synonym: "ARMD9" EXACT OMO:0003012 [] xref: MIM:611378 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110022 name: age related macular degeneration 10 def: "An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14691731, url:https\://www.ncbi.nlm.nih.gov/pubmed/15829498] synonym: "ARMD10" EXACT OMO:0003012 [] xref: MIM:611488 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110023 name: age related macular degeneration 11 def: "An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11815350, url:https\://www.ncbi.nlm.nih.gov/pubmed/25893795] synonym: "ARMD11" EXACT OMO:0003012 [] xref: MIM:611953 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110024 name: age related macular degeneration 12 def: "An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15208270, url:https\://www.ncbi.nlm.nih.gov/pubmed/17909628] synonym: "ARMD12" EXACT OMO:0003012 [] xref: MIM:613784 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110025 name: age related macular degeneration 13 def: "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23685748] synonym: "ARMD13" EXACT OMO:0003012 [] xref: MIM:615439 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110026 name: age related macular degeneration 14 def: "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16518403] synonym: "ARMD14" EXACT OMO:0003012 [] xref: MIM:615489 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110027 name: age related macular degeneration 15 def: "An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24036952] synonym: "ARMD15" EXACT OMO:0003012 [] xref: MIM:615591 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110028 name: age related macular degeneration 5 def: "An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16754848] synonym: "ARMD5" EXACT OMO:0003012 [] xref: MIM:613761 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110029 name: alpha thalassemia-intellectual disability syndrome type 1 def: "An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15921166, url:https\://www.ncbi.nlm.nih.gov/pubmed/18076105] subset: DO_rare_slim synonym: "alpha thalassemia-intellectual disability syndrome, deletion type" EXACT [] synonym: "alpha thalassemia-retardation syndrome" EXACT [] synonym: "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16" EXACT [] synonym: "alpha-thalassemia/mental retardation syndrome, deletion-type" EXACT [] synonym: "alpha-thalassemia/mental retardation syndrome, type 1" EXACT [] synonym: "ATR syndrome linked to chromosome 16" EXACT [] synonym: "ATR syndrome, deletion type" EXACT [] synonym: "ATR-16 syndrome" EXACT [] xref: ICD10CM:D56.0 xref: MIM:141750 xref: ORDO:98791 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1099 ! alpha thalassemia [Term] id: DOID:0110030 name: alpha thalassemia-X-linked intellectual disability syndrome def: "An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1415255, url:https\://www.ncbi.nlm.nih.gov/pubmed/7697714] subset: DO_rare_slim synonym: "alpha-thalassemia/mental retardation syndrome nondeletion type" EXACT [] synonym: "ATR, nondeletion type" EXACT [] synonym: "ATR-X syndrome" EXACT [] xref: GARD:5864 xref: ICD10CM:D56.0 xref: MIM:301040 xref: ORDO:847 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:1099 ! alpha thalassemia [Term] id: DOID:0110031 name: hemoglobin H disease def: "An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12393486] subset: DO_rare_slim synonym: "alpha thalassemia, haemoglobin H type" EXACT [] synonym: "alpha thalassemia, hemoglobin H type" EXACT [] synonym: "alpha-thalassemia intermedia" EXACT [] synonym: "haemoglobin H disease" EXACT [] synonym: "haemoglobin H disease, deletional" EXACT [] synonym: "HBH" EXACT OMO:0003012 [] synonym: "hemoglobin H disease, deletional" EXACT [] xref: ICD10CM:D56.0 xref: MIM:613978 xref: ORDO:93616 is_a: DOID:1099 ! alpha thalassemia [Term] id: DOID:0110032 name: autosomal dominant Alport syndrome def: "An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11044206] subset: DO_rare_slim xref: GARD:624 xref: MIM:104200 xref: ORDO:88918 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10983 ! Alport syndrome [Term] id: DOID:0110033 name: autosomal recessive Alport syndrome def: "An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25575550] subset: DO_rare_slim xref: GARD:625 xref: MIM:203780 xref: ORDO:88919 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10983 ! Alport syndrome [Term] id: DOID:0110034 name: X-linked Alport syndrome def: "An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2349482] subset: DO_rare_slim synonym: "nephropathy and deafness, X-linked" EXACT [] xref: MIM:301050 xref: ORDO:88917 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:10983 ! Alport syndrome [Term] id: DOID:0110035 name: Alzheimer's disease 2 def: "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8346443] synonym: "AD2" EXACT OMO:0003012 [] synonym: "Alzheimer disease 2, late onset" EXACT [] synonym: "Alzheimer disease associated with APOE4" EXACT [] synonym: "Alzheimer disease-2" EXACT [] xref: ICD10CM:G30 xref: MIM:104310 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110036 name: Alzheimer's disease 16 def: "An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19136949] synonym: "AD16" EXACT OMO:0003012 [] synonym: "Alzheimer's disease 16, late onset" EXACT [] xref: MIM:300756 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110037 name: Alzheimer's disease 5 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9333264] synonym: "AD5" EXACT OMO:0003012 [] synonym: "Alzheimer disease 5" EXACT [] synonym: "Alzheimer disease, familial 5" EXACT [] synonym: "Alzheimer's disease 5, late onset" EXACT [] xref: ICD10CM:G30 xref: MIM:602096 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110038 name: Alzheimer's disease 6 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16385451] synonym: "AD6" EXACT OMO:0003012 [] synonym: "Alzheimer disease 6" EXACT [] synonym: "Alzheimer disease 6, late onset" EXACT [] xref: ICD10CM:G30 xref: MIM:605526 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110039 name: Alzheimer's disease 7 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11443525] synonym: "AD7" EXACT OMO:0003012 [] synonym: "Alzheimer disease 7" EXACT [] synonym: "Alzheimer disease, familial 7" EXACT [] xref: ICD10CM:G30 xref: MIM:606187 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110040 name: Alzheimer's disease 4 def: "An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12925374, url:https\://www.ncbi.nlm.nih.gov/pubmed/7638622, url:https\://www.ncbi.nlm.nih.gov/pubmed/7651536] synonym: "AD4" EXACT OMO:0003012 [] synonym: "Alzheimer disease 4" EXACT [] synonym: "Alzheimer disease, familial4" EXACT [] synonym: "Alzheimer's disease 4, early onset" EXACT [] xref: MIM:606889 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110041 name: Alzheimer's disease 8 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9008509] synonym: "AD8" EXACT OMO:0003012 [] synonym: "Alzheimer disease 8" EXACT [] synonym: "Alzheimer disease, familial 8" EXACT [] synonym: "Alzheimer's disease 8, late onset" EXACT [] xref: ICD10CM:G30 xref: MIM:607116 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110042 name: Alzheimer's disease 3 def: "An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1303290, url:https\://www.ncbi.nlm.nih.gov/pubmed/7596406] synonym: "AD3" EXACT OMO:0003012 [] synonym: "Alzheimer disease 3" EXACT [] synonym: "Alzheimer disease 3, early onset" EXACT [] synonym: "Alzheimer disease familial 3" EXACT [] xref: MIM:607822 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110043 name: Alzheimer's disease 10 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16175510] synonym: "AD10" EXACT OMO:0003012 [] synonym: "Alzheimer disease 10" EXACT [] synonym: "Alzheimer disease familial 10" EXACT [] synonym: "Alzheimer's disease 10, early onset" EXACT [] xref: ICD10CM:G30 xref: MIM:609636 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110044 name: Alzheimer's disease 11 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18761660] synonym: "AD11" EXACT OMO:0003012 [] synonym: "Alzheimer disease 11" EXACT [] synonym: "Alzheimer's disease 11, late onset" EXACT [] xref: ICD10CM:G30 xref: MIM:609790 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110045 name: Alzheimer's disease 12 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16825432] synonym: "AD12" EXACT OMO:0003012 [] synonym: "Alzheimer disease 12" EXACT [] synonym: "Alzheimer disease familial 12" EXACT [] xref: ICD10CM:G30 xref: MIM:611073 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110046 name: Alzheimer's disease 13 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17564960] synonym: "AD13" EXACT OMO:0003012 [] synonym: "Alzheimer disease 13" EXACT [] synonym: "Alzheimer's disease 13, late onset" EXACT [] xref: ICD10CM:G30 xref: MIM:611152 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110047 name: Alzheimer's disease 14 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17564960] synonym: "AD14" EXACT OMO:0003012 [] synonym: "Alzheimer disease 14" EXACT [] synonym: "Alzheimer's disease 14, late onset" EXACT [] xref: ICD10CM:G30 xref: MIM:611154 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110048 name: Alzheimer's disease 15 def: "An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17564960] subset: DO_rare_slim synonym: "AD15" EXACT OMO:0003012 [] synonym: "Alzheimer disease 15" EXACT [] synonym: "Alzheimer's disease 15, late onset" EXACT [] xref: GARD:7190 xref: ICD10CM:G30 xref: MIM:604154 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110049 name: Alzheimer's disease 17 def: "An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23150934] synonym: "AD17" EXACT OMO:0003012 [] synonym: "Alzheimer disease 17" EXACT [] synonym: "Alzheimer disease 17, late onset" EXACT [] xref: MIM:615080 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110050 name: Alzheimer's disease 18 def: "An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19608551] synonym: "AD18" EXACT OMO:0003012 [] synonym: "Alzheimer disease 18" EXACT [] synonym: "Alzheimer's disease 18, late onset" EXACT [] xref: MIM:615590 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110051 name: Alzheimer's disease 19 def: "An Alzheimer's disease that is characterized by associated variants of the gene PLD3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24336208, url:https\://www.ncbi.nlm.nih.gov/pubmed/25832408] synonym: "AD19" EXACT OMO:0003012 [] synonym: "Alzheimer disease 19" EXACT [] synonym: "Alzheimer disease 19 late onset" EXACT [] xref: MIM:615711 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110052 name: amelogenesis imperfecta type 1B def: "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11487571] synonym: "AI1B" EXACT OMO:0003012 [] synonym: "AIH2" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta type IB" EXACT [] synonym: "autosomal dominant hypoplastic local amelogenesis imperfecta" EXACT [] synonym: "hereditary localized enamel hypoplasia" EXACT [] xref: ICD10CM:K00.5 xref: MIM:104500 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110053 name: amelogenesis imperfecta type 4 def: "An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15666299] synonym: "AI4" EXACT OMO:0003012 [] synonym: "AIHHT" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism" EXACT [] xref: ICD10CM:K00.5 xref: MIM:104510 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110054 name: amelogenesis imperfecta type 1A def: "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23632796, url:https\://www.ncbi.nlm.nih.gov/pubmed/23958762] synonym: "AI1A" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta hypoplastic type IA" EXACT [] synonym: "amelogenesis imperfecta type IA" EXACT [] xref: ICD10CM:K00.5 xref: MIM:104530 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110055 name: amelogenesis imperfecta type 3A def: "An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18252228, url:https\://www.ncbi.nlm.nih.gov/pubmed/18484629] synonym: "ADHCAI" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta hypomineralization type" EXACT [] synonym: "amelogenesis imperfecta type III" EXACT [] synonym: "autosomal dominant amelogenesis imperfecta hypocalcification type" EXACT [] xref: ICD10CM:K00.5 xref: MIM:130900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111721 ! amelogenesis imperfecta type 3 [Term] id: DOID:0110056 name: amelogenesis imperfecta type 1C def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14684688] synonym: "AI1C" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta type IC" EXACT [] synonym: "autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion" EXACT [] synonym: "autosomal recessive amelogenesis imperfecta local hypoplastic type" EXACT [] xref: ICD10CM:K00.5 xref: MIM:204650 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110057 name: amelogenesis imperfecta type 2A1 def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15235027, url:https\://www.ncbi.nlm.nih.gov/pubmed/23355523] subset: DO_rare_slim synonym: "AI2A1" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta pigmented hypomaturation type 1" EXACT [] synonym: "amelogenesis imperfecta type IIA1" EXACT [] xref: GARD:9495 xref: ICD10CM:K00.5 xref: MIM:204700 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110058 name: amelogenesis imperfecta type 1E def: "An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX)." [url:https\://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta, url:https\://www.omim.org/entry/301200] synonym: "AIH1" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta hypomaturationtype with snow-capped teeth" EXACT [] synonym: "amelogenesis imperfecta type IE" EXACT [] synonym: "X-linked amelogenesis imperfecta 1" EXACT [] synonym: "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1" EXACT [] synonym: "X-linked enamel hypoplasia" RELATED [] xref: ICD10CM:K00.5 xref: MIM:301200 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110059 name: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 def: "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1358807] synonym: "AIH3" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta type IE X-linked 2" EXACT [] synonym: "amelogenesis imperfecta 3 hypoplastic type" EXACT [] synonym: "X-linked enamel hypoplasia" RELATED [] xref: ICD10CM:K00.5 xref: MIM:301201 is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110060 name: amelogenesis imperfecta hypomaturation type 2A2 def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15744043] synonym: "AI2A2" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta hypomaturation type IIA2" EXACT [] synonym: "amelogenesis imperfecta pigmented hypomaturation type 2" EXACT [] synonym: "amelogenesis imperfecta type IIA2" EXACT [] xref: ICD10CM:K00.5 xref: MIM:612529 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110061 name: amelogenesis imperfecta hypomaturation type 2A3 def: "An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19853237] synonym: "AI2A3" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta hypomaturation type IIA3" EXACT [] synonym: "amelogenesis imperfecta type IIA3" EXACT [] xref: ICD10CM:K00.5 xref: MIM:613211 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110062 name: amelogenesis imperfecta hypomaturation type 2A4 def: "An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22901946] synonym: "AI2A4" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta hypomaturation type IIA4" EXACT [] synonym: "amelogenesis imperfecta type IIA4" EXACT [] xref: ICD10CM:K00.5 xref: MIM:614832 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110063 name: amelogenesis imperfecta hypomaturation type 2A5 def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23375655] synonym: "AI2A5" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta hypomaturation type IIA5" EXACT [] synonym: "amelogenesis imperfecta type IIA5" EXACT [] xref: ICD10CM:K00.5 xref: MIM:615887 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110064 name: amelogenesis imperfecta type 1H def: "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24305999, url:https\://www.ncbi.nlm.nih.gov/pubmed/24319098] synonym: "AI1H" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta type IH" EXACT [] xref: ICD10CM:K00.5 xref: MIM:616221 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110065 name: amelogenesis imperfecta type 1F def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24858907] synonym: "AI1F" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta hypoplastic type IF" EXACT [] synonym: "amelogenesis imperfecta type IF" EXACT [] xref: ICD10CM:K00.5 xref: MIM:616270 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110066 name: amelogenesis imperfecta type 1G def: "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23468644, url:https\://www.ncbi.nlm.nih.gov/pubmed/24196488] subset: DO_rare_slim synonym: "AI1G" EXACT OMO:0003012 [] synonym: "AIGFS" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta and gingival fibromatosis syndrome" EXACT [] synonym: "amelogenesis imperfecta hypoplastic with nephrocalcinosis" EXACT [] synonym: "amelogenesis imperfecta type IG" EXACT [] synonym: "enamel-renal syndrome" EXACT [] synonym: "enamel-renal-gingival syndrome" EXACT [] synonym: "ERS" EXACT OMO:0003012 [] xref: ICD10CM:K00.5 xref: MIM:204690 xref: ORDO:1031 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110067 name: juvenile amyotrophic lateral sclerosis with dementia def: "A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia." [url:https\://www.ncbi.nlm.nih.gov/pubmed/5692341] synonym: "ALS-dementia complex" EXACT [] xref: MIM:205200 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0110068 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 3 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22084127] synonym: "FTDALS3" EXACT OMO:0003012 [] xref: MIM:616437 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0110069 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 4 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25700176] synonym: "FTDALS4" EXACT OMO:0003012 [] xref: MIM:616439 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0110070 name: arrhythmogenic right ventricular dysplasia 1 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15639475] synonym: "arrhythmogenic right ventricular cardiomyopathy 1" EXACT [] synonym: "ARVC1" EXACT OMO:0003012 [] synonym: "Uhl anomaly" EXACT [] xref: ICD10CM:I42.8 xref: ICD10CM:Q24.8 xref: MESH:C536932 xref: MIM:107970 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110071 name: obsolete arrhythmogenic right ventricular dysplasia 2 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11159936] synonym: "arrhythmogenic right ventricular cardiomyopathy 2" EXACT [] synonym: "ARVC2" EXACT [] synonym: "ARVD2" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 2" EXACT [] is_obsolete: true [Term] id: DOID:0110072 name: arrhythmogenic right ventricular dysplasia 3 def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8824801] synonym: "arrhythmogenic right ventricular cardiomyopathy 3" EXACT [] synonym: "ARVC3" EXACT OMO:0003012 [] synonym: "ARVD3" EXACT OMO:0003012 [] synonym: "familial arrhythmogenic right ventricular dysplasia 3" EXACT [] xref: ICD10CM:I42.8 xref: MIM:602086 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110073 name: arrhythmogenic right ventricular dysplasia 4 def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9344647] synonym: "arrhythmogenic right ventricular cardiomyopathy 4" EXACT [] synonym: "ARVC4" EXACT OMO:0003012 [] synonym: "ARVD4" EXACT OMO:0003012 [] synonym: "familial arrhythmogenic right ventricular dysplasia 4" EXACT [] xref: ICD10CM:I42.8 xref: MIM:602087 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110074 name: arrhythmogenic right ventricular dysplasia 5 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18313022] synonym: "arrhythmogenic right ventricular cardiomyopathy 5" EXACT [] synonym: "ARVC5" EXACT OMO:0003012 [] synonym: "ARVD5" EXACT OMO:0003012 [] synonym: "familial arrhythmogenic right ventricular dysplasia 5" EXACT [] xref: ICD10CM:I42.8 xref: MIM:604400 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110075 name: arrhythmogenic right ventricular dysplasia 6 def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10631146] synonym: "arrhythmogenic right ventricular cardiomyopathy 6" EXACT [] synonym: "ARVC6" EXACT OMO:0003012 [] synonym: "ARVD6" EXACT OMO:0003012 [] synonym: "familial arrhythmogenic right ventricular dysplasia 6" EXACT [] xref: ICD10CM:I42.8 xref: MIM:604401 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy [Term] id: DOID:0110076 name: arrhythmogenic right ventricular dysplasia 8 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12373648] synonym: "arrhythmogenic right ventricular cardiomyopathy 8" EXACT [] synonym: "ARVC8" EXACT OMO:0003012 [] synonym: "ARVD8" EXACT OMO:0003012 [] synonym: "familial arrhythmogenic right ventricular dysplasia 8" EXACT [] xref: ICD10CM:I42.8 xref: MIM:607450 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110077 name: arrhythmogenic right ventricular dysplasia 9 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15489853] synonym: "arrhythmogenic right ventricular cardiomyopathy 9" EXACT [] synonym: "ARVC9" EXACT OMO:0003012 [] synonym: "ARVD9" EXACT OMO:0003012 [] synonym: "familial arrhythmogenic right ventricular dysplasia 9" EXACT [] xref: ICD10CM:I42.8 xref: MIM:609040 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110078 name: Leber congenital amaurosis 1 def: "A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8944027] synonym: "amaurosis congenita of Leber I" EXACT [] synonym: "LCA1" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:204000 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110079 name: Leber congenital amaurosis 8 def: "A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11231775] synonym: "LCA8" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613835 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110080 name: Leber congenital amaurosis 12 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17186464] synonym: "LCA12" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C565697 xref: MIM:610612 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110081 name: arrhythmogenic right ventricular dysplasia 10 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16505173, url:https\://www.ncbi.nlm.nih.gov/pubmed/17105751] synonym: "arrhythmogenic right ventricular cardiomyopathy 10" EXACT [] synonym: "ARVC10" EXACT OMO:0003012 [] synonym: "ARVD10" EXACT OMO:0003012 [] synonym: "familial arrhythmogenic right ventricular dysplasia 10" EXACT [] xref: ICD10CM:I42.8 xref: MIM:610193 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110082 name: arrhythmogenic right ventricular dysplasia 11 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17033975] synonym: "arrhythmogenic right ventricular cardiomyopathy 11" EXACT [] synonym: "ARVC11" EXACT OMO:0003012 [] synonym: "ARVD11" EXACT OMO:0003012 [] synonym: "familial arrhythmogenic right ventricular dysplasia 11" EXACT [] xref: ICD10CM:I42.8 xref: MIM:610476 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy [Term] id: DOID:0110083 name: arrhythmogenic right ventricular dysplasia 12 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21." [url:https\://pubmed.ncbi.nlm.nih.gov/17924338/] synonym: "arrhythmogenic right ventricular cardiomyopathy 12" EXACT [] synonym: "ARVC12" EXACT OMO:0003012 [] synonym: "ARVD12" EXACT OMO:0003012 [] synonym: "familial arrhythmogenic right ventricular dysplasia 12" EXACT [] xref: ICD10CM:I42.8 xref: MIM:611528 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110084 name: arrhythmogenic right ventricular dysplasia 13 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23136403] synonym: "arrhythmogenic right ventricular cardiomyopathy 13" EXACT [] synonym: "ARVC13" EXACT OMO:0003012 [] synonym: "ARVD13" EXACT OMO:0003012 [] synonym: "familial arrhythmogenic right ventricular dysplasia 13" EXACT [] xref: ICD10CM:I42.8 xref: MIM:615616 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110085 name: asphyxiating thoracic dystrophy 1 def: "An asphyxiating thoracic dystrophy associated with variation in the region 15q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20503315] synonym: "ATD1" EXACT OMO:0003012 [] synonym: "short-rib thoracic dysplasia 1 with or without polydactyly" EXACT [] synonym: "SRTD1" EXACT OMO:0003012 [] xref: ICD10CM:Q77.2 xref: MIM:208500 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110086 name: asphyxiating thoracic dystrophy 2 def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17468754] synonym: "ATD2" EXACT OMO:0003012 [] synonym: "short-rib thoracic dysplasia 2 with or without polydactyly" EXACT [] synonym: "SRTD2" EXACT OMO:0003012 [] xref: ICD10CM:Q77.2 xref: MESH:C566982 xref: MIM:611263 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110087 name: asphyxiating thoracic dystrophy 3 alt_id: DOID:0050549 def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19442771] synonym: "ATD3" EXACT OMO:0003012 [] synonym: "polydactyly with neonatal chondrodystrophy, type I" EXACT [] synonym: "polydactyly with neonatal chondrodystrophy, type III" EXACT [] synonym: "Saldino-Noonan syndrome" EXACT [] synonym: "short rib-polydactyly syndrome, type I" EXACT [] synonym: "short rib-polydactyly syndrome, type IIB" EXACT [] synonym: "short-rib thoracic dysplasia 3 with or without polydactyly" EXACT [] synonym: "SRPS1" EXACT OMO:0003012 [] synonym: "SRPS2B" EXACT OMO:0003012 [] synonym: "SRPS3" EXACT OMO:0003012 [] synonym: "SRTD3" EXACT OMO:0003012 [] synonym: "Verma-Naumoff syndrome" EXACT [] xref: ICD10CM:Q77.2 xref: MIM:613091 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110088 name: asphyxiating thoracic dystrophy 4 def: "An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21258341] synonym: "ATD4" EXACT OMO:0003012 [] synonym: "short-rib thoracic dysplasia 4 with or without polydactyly" EXACT [] synonym: "SRTD4" EXACT OMO:0003012 [] xref: ICD10CM:Q77.2 xref: MIM:613819 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110089 name: asphyxiating thoracic dystrophy 5 def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22019273] synonym: "ATD5" EXACT OMO:0003012 [] synonym: "short-rib thoracic dysplasia 5 with or without polydactyly" EXACT [] synonym: "SRTD5" EXACT OMO:0003012 [] xref: ICD10CM:Q77.2 xref: MIM:614376 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110090 name: short-rib thoracic dysplasia 7 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17935248, url:https\://www.ncbi.nlm.nih.gov/pubmed/21473986] synonym: "short rib-polydactyly syndrome type V" EXACT [] synonym: "SRPS5" EXACT OMO:0003012 [] synonym: "SRTD7" EXACT OMO:0003012 [] xref: ICD10CM:Q77.2 xref: MIM:614091 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0110091 name: short-rib thoracic dysplasia 10 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24140113] synonym: "SRTD10" EXACT OMO:0003012 [] xref: ICD10CM:Q77.2 xref: ICD10CM:Q87.5 xref: MIM:615630 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110092 name: short-rib thoracic dysplasia 6 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21211617, url:https\://www.ncbi.nlm.nih.gov/pubmed/22499340] synonym: "Majewski syndrome" EXACT [] synonym: "polydactyly with neonatal chondrodystrophy, type II" EXACT [] synonym: "short rib-polydactyly syndrome type IIA" EXACT [] synonym: "SRPS2A" EXACT OMO:0003012 [] synonym: "SRTD6" EXACT OMO:0003012 [] xref: ICD10CM:Q77.2 xref: MIM:263520 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110093 name: short-rib thoracic dysplasia 13 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25361962] synonym: "SRTD13" EXACT OMO:0003012 [] xref: ICD10CM:Q77.2 xref: MIM:616300 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110094 name: short-rib thoracic dysplasia 8 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23910462] synonym: "short rib-polydactyly syndrome type VI" EXACT [] synonym: "SRPS6" EXACT OMO:0003012 [] synonym: "SRTD8" EXACT OMO:0003012 [] xref: ICD10CM:Q77.2 xref: MIM:615503 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110095 name: short-rib thoracic dysplasia 11 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24183449] synonym: "SRTD11" EXACT OMO:0003012 [] xref: ICD10CM:Q77.2 xref: MIM:615633 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110096 name: short-rib thoracic dysplasia 14 with polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26166481] synonym: "SRTD14" EXACT OMO:0003012 [] xref: ICD10CM:Q04.3 xref: MIM:616546 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110097 name: short-rib thoracic dysplasia 9 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22503633] synonym: "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia" EXACT [] synonym: "SRTD9" EXACT OMO:0003012 [] xref: ICD10CM:Q87.5 xref: MIM:266920 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110098 name: atopic dermatitis 2 def: "An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16912508] synonym: "ATOD2" EXACT OMO:0003012 [] xref: MIM:605803 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110099 name: atopic dermatitis 3 def: "An atopic dermatitis associated with variation in the region 20p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11279517] synonym: "ATOD3" EXACT OMO:0003012 [] synonym: "atopic dermatitis with asthma" EXACT [] xref: MIM:605804 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110100 name: atopic dermatitis 4 def: "An atopic dermatitis associated with variation in the region 17q25.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11279517] synonym: "ATOD4" EXACT OMO:0003012 [] xref: MIM:605805 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110101 name: atopic dermatitis 5 def: "An atopic dermatitis associated with variation in the region 13q12-q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11069631] synonym: "ATOD5" EXACT OMO:0003012 [] xref: MIM:605844 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110102 name: atopic dermatitis 6 def: "An atopic dermatitis associated with variation in the region 5q31-q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11069631] synonym: "ATOD6" EXACT OMO:0003012 [] xref: MIM:605845 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110103 name: atopic dermatitis 7 def: "An atopic dermatitis associated with variation in the region 11q13.5." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19349984] synonym: "ATOD7" EXACT OMO:0003012 [] xref: MIM:613064 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110104 name: atopic dermatitis 8 def: "An atopic dermatitis associated with variation in the region 4q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19517137] synonym: "ATOD8" EXACT OMO:0003012 [] xref: MIM:613518 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110105 name: atopic dermatitis 9 def: "An atopic dermatitis associated with variation in the region 3p24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19517137] synonym: "ATOD9" EXACT OMO:0003012 [] xref: MIM:613519 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110106 name: atrial heart septal defect 1 def: "An atrial heart septal defect type 1 associated with variation in the region 5p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9610535] synonym: "ASD1" EXACT OMO:0003012 [] synonym: "atrial septal defect 1" EXACT [] xref: ICD10CM:Q21.1 xref: MIM:108800 is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110107 name: atrial heart septal defect 2 def: "An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12845333] synonym: "ASD2" EXACT OMO:0003012 [] synonym: "atrial septal defect 2" EXACT [] xref: ICD10CM:Q21.1 xref: MIM:607941 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110108 name: atrial heart septal defect 3 def: "An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15735645] synonym: "ASD3" EXACT OMO:0003012 [] synonym: "atrial septal defect 3" EXACT [] xref: ICD10CM:Q21.1 xref: MIM:614089 is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110109 name: atrial heart septal defect 4 def: "An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17668378] synonym: "ASD4" EXACT OMO:0003012 [] synonym: "atrial septal defect 4" EXACT [] xref: ICD10CM:Q21.1 xref: MIM:611363 is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110110 name: atrial heart septal defect 5 def: "An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17947298] synonym: "ASD5" EXACT OMO:0003012 [] synonym: "atrial septal defect 5" EXACT [] xref: ICD10CM:Q21.1 xref: MIM:612794 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110111 name: atrial heart septal defect 6 def: "An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18830233] synonym: "ASD6" EXACT OMO:0003012 [] synonym: "atrial septal defect 6" EXACT [] xref: ICD10CM:Q21.1 xref: MIM:613087 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110112 name: atrial heart septal defect 7 def: "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9651244] subset: DO_rare_slim synonym: "ASD with or without atrioventricular conduction defects" EXACT [] synonym: "atrial septal defect 7, with or without AV conduction defects" EXACT [] synonym: "atrial septal defect-atrioventricular conduction defects syndrome" EXACT [] xref: ICD10CM:Q21.1 xref: MIM:108900 xref: ORDO:1479 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110113 name: atrial heart septal defect 8 def: "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16287139] synonym: "ASD8" EXACT OMO:0003012 [] synonym: "atrial septal defect 8" EXACT [] xref: ICD10CM:Q21.1 xref: MIM:614433 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110114 name: atrial heart septal defect 9 def: "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20631719] synonym: "ASD9" EXACT OMO:0003012 [] synonym: "atrial septal defect 9" EXACT [] xref: ICD10CM:Q21.1 xref: MIM:614475 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110115 name: autoimmune lymphoproliferative syndrome type 2A def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16446975] synonym: "ALPS2A" EXACT OMO:0003012 [] synonym: "autoimmune lymphoproliferative syndrome type IIA" EXACT [] xref: ICD10CM:D47.9 xref: MESH:C565833 xref: MIM:603909 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome [Term] id: DOID:0110116 name: autoimmune lymphoproliferative syndrome type 2B def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12353035] subset: DO_rare_slim synonym: "ALPS with recurrent viral infections" EXACT [] synonym: "ALPS2B" EXACT OMO:0003012 [] synonym: "autoimmune lymphoproliferative syndrome type IIB" EXACT [] synonym: "autoimmune lymphoproliferative syndrome with recurrent viral infections" EXACT [] synonym: "Caspase 8 deficiency" EXACT [] synonym: "Caspase 8 deficiency syndrome" EXACT [] synonym: "Caspase eight deficiency state" EXACT [] synonym: "CEDS" EXACT OMO:0003012 [] xref: ICD10CM:D47.9 xref: MIM:607271 xref: ORDO:275517 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome [Term] id: DOID:0110117 name: autoimmune lymphoproliferative syndrome type 4 def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12." [url:https\://pubmed.ncbi.nlm.nih.gov/24240292/] subset: DO_rare_slim synonym: "ALPS type 4" EXACT [] synonym: "ALPS type IV" EXACT [] synonym: "ALPS4" EXACT OMO:0003012 [] synonym: "autoimmune lymphoproliferative syndrome type IV" EXACT [] synonym: "RALD" EXACT OMO:0003012 [] synonym: "RAS-associated autoimmune leukoproliferative disease" EXACT [] synonym: "RAS-associated autoimmune leukoproliferative disorder" EXACT [] xref: ICD10CM:D72.8 xref: MIM:614470 xref: ORDO:268114 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome [Term] id: DOID:0110118 name: Leber congenital amaurosis 16 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21763485] synonym: "LCA16" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:614186 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110119 name: autoimmune lymphoproliferative syndrome type 3 def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23319571, url:https\://www.ncbi.nlm.nih.gov/pubmed/23666743] synonym: "ALPS3" EXACT OMO:0003012 [] synonym: "autoimmune lymphoproliferative syndrome type III" EXACT [] xref: MIM:615559 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome [Term] id: DOID:0110120 name: Axenfeld-Rieger syndrome type 1 def: "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8944018] synonym: "RIEG1" EXACT OMO:0003012 [] synonym: "Rieger syndrome type 1" EXACT [] xref: ICD10CM:Q13.8 xref: MIM:180500 is_a: DOID:14686 ! Axenfeld-Rieger syndrome [Term] id: DOID:0110121 name: Axenfeld-Rieger syndrome type 2 def: "An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8751862] synonym: "RIEG2" EXACT OMO:0003012 [] synonym: "Rieger syndrome type 2" EXACT [] xref: ICD10CM:Q13.8 xref: MIM:601499 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:14686 ! Axenfeld-Rieger syndrome [Term] id: DOID:0110122 name: Axenfeld-Rieger syndrome type 3 def: "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9792859] synonym: "anterior chamber cleavage syndrome" EXACT [] synonym: "anterior segment mesenchymal dysgenesis" EXACT [] synonym: "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss" EXACT [] synonym: "RIEG3" EXACT OMO:0003012 [] synonym: "Rieger syndrome type 3" EXACT [] xref: ICD10CM:Q13.8 xref: MIM:602482 is_a: DOID:14686 ! Axenfeld-Rieger syndrome [Term] id: DOID:0110123 name: Bardet-Biedl syndrome 1 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20177705] subset: DO_rare_slim synonym: "BBS1" EXACT OMO:0003012 [] xref: GARD:820 xref: ICD10CM:Q87.89 xref: MESH:C537909 xref: MIM:209900 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110124 name: Bardet-Biedl syndrome 2 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16823392] subset: DO_rare_slim synonym: "BBS2" EXACT OMO:0003012 [] xref: GARD:821 xref: ICD10CM:Q87.89 xref: MESH:C537910 xref: MIM:615981 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110125 name: Bardet-Biedl syndrome 3 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15314642] subset: DO_rare_slim synonym: "BBS3" EXACT OMO:0003012 [] xref: GARD:822 xref: ICD10CM:Q87.89 xref: MESH:C537911 xref: MIM:600151 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110126 name: Bardet-Biedl syndrome 4 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11381270] subset: DO_rare_slim synonym: "BBS4" EXACT OMO:0003012 [] xref: GARD:823 xref: ICD10CM:Q87.89 xref: MESH:C537912 xref: MIM:615982 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110127 name: Bardet-Biedl syndrome 5 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15137946] subset: DO_rare_slim synonym: "BBS5" EXACT OMO:0003012 [] xref: GARD:10204 xref: ICD10CM:Q87.89 xref: MIM:615983 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110128 name: Bardet-Biedl syndrome 6 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10973238, url:https\://www.ncbi.nlm.nih.gov/pubmed/10973251] subset: DO_rare_slim synonym: "BBS6" EXACT OMO:0003012 [] xref: GARD:10205 xref: ICD10CM:Q87.89 xref: MESH:C565738 xref: MIM:605231 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110129 name: Bardet-Biedl syndrome 7 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12567324] subset: DO_rare_slim synonym: "BBS7" EXACT OMO:0003012 [] xref: GARD:10206 xref: ICD10CM:Q87.89 xref: MESH:C565916 xref: MIM:615984 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110130 name: Bardet-Biedl syndrome 8 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14520415, url:https\://www.ncbi.nlm.nih.gov/pubmed/16308660] subset: DO_rare_slim synonym: "BBS8" EXACT OMO:0003012 [] xref: GARD:10207 xref: ICD10CM:Q87.89 xref: MESH:C565917 xref: MIM:615985 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110131 name: Bardet-Biedl syndrome 9 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16380913] subset: DO_rare_slim synonym: "BBS9" EXACT OMO:0003012 [] xref: GARD:10208 xref: ICD10CM:Q87.89 xref: MESH:C565918 xref: MIM:615986 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110132 name: Bardet-Biedl syndrome 10 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16582908] subset: DO_rare_slim synonym: "BBS10" EXACT OMO:0003012 [] xref: GARD:10209 xref: ICD10CM:Q87.89 xref: MESH:C565919 xref: MIM:615987 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110133 name: Bardet-Biedl syndrome 11 def: "A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16606853] subset: DO_rare_slim synonym: "BBS11" EXACT OMO:0003012 [] xref: GARD:10210 xref: ICD10CM:Q87.89 xref: MESH:C565920 xref: MIM:615988 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110134 name: Bardet-Biedl syndrome 12 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17160889, url:https\://www.ncbi.nlm.nih.gov/pubmed/19797195] subset: DO_rare_slim synonym: "BBS12" EXACT OMO:0003012 [] xref: GARD:10211 xref: ICD10CM:Q87.89 xref: MESH:C565921 xref: MIM:615989 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110135 name: Bardet-Biedl syndrome 13 def: "A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18327255] synonym: "BBS13" EXACT OMO:0003012 [] xref: ICD10CM:Q87.89 xref: MESH:C567140 xref: MIM:615990 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110136 name: Bardet-Biedl syndrome 14 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18327255] synonym: "BBS14" EXACT OMO:0003012 [] xref: ICD10CM:Q87.89 xref: MESH:C567141 xref: MIM:615991 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110137 name: Bardet-Biedl syndrome 15 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20671153] synonym: "BBS15" EXACT OMO:0003012 [] xref: ICD10CM:Q87.89 xref: MIM:615992 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110138 name: Bardet-Biedl syndrome 16 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20835237, url:https\://www.ncbi.nlm.nih.gov/pubmed/22626039] synonym: "BBS16" EXACT OMO:0003012 [] xref: ICD10CM:Q87.89 xref: MIM:615993 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110139 name: Bardet-Biedl syndrome 17 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22510444, url:https\://www.ncbi.nlm.nih.gov/pubmed/23692385] synonym: "BBS17" EXACT OMO:0003012 [] xref: ICD10CM:Q87.89 xref: MIM:615994 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110140 name: Bardet-Biedl syndrome 18 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24026985] synonym: "BBS18" EXACT OMO:0003012 [] xref: ICD10CM:Q87.89 xref: MIM:615995 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110141 name: Bardet-Biedl syndrome 19 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24488770] synonym: "BBS19" EXACT OMO:0003012 [] xref: ICD10CM:Q87.89 xref: MIM:615996 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110142 name: Bartter disease type 1 def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9355073] synonym: "BARTS1" EXACT OMO:0003012 [] synonym: "Bartter syndrome type 1" EXACT [] synonym: "Bartter syndrome type 1 antenatal" EXACT [] synonym: "hyperprostaglandin E syndrome 1" EXACT [] synonym: "hypokalemic alkalosis with hypercalciuria 1 antenatal" EXACT [] xref: ICD10CM:E26.8 xref: MIM:601678 is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110143 name: Bartter disease type 2 def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9326936] synonym: "BARTS2" EXACT OMO:0003012 [] synonym: "Bartter syndrome type 2" EXACT [] synonym: "Bartter syndrome type 2 antenatal" EXACT [] synonym: "hyperprostaglandin E syndrome 2" EXACT [] synonym: "hypokalemic alkalosis with hypercalciuria 2 antenatal" EXACT [] xref: ICD10CM:E26.8 xref: MIM:241200 is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110144 name: Bartter disease type 3 def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9326936] subset: DO_rare_slim synonym: "BARTS3" EXACT OMO:0003012 [] synonym: "Bartter syndrome type 3" EXACT [] synonym: "classic Bartter syndrome" EXACT [] xref: GARD:9659 xref: ICD10CM:E26.8 xref: MIM:607364 is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110145 name: Bartter disease type 4a def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11687798] synonym: "BARTS4A" EXACT OMO:0003012 [] synonym: "Bartter syndrome type 4a" EXACT [] synonym: "BSND" EXACT OMO:0003012 [] synonym: "neonatal Bartter syndrome with sensorineural deafness" EXACT [] xref: ICD10CM:E26.8 xref: MIM:602522 is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110146 name: Bartter disease type 4b def: "A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15044642] synonym: "BARTS4B" EXACT OMO:0003012 [] synonym: "Bartter syndrome, type 4b, digenic" EXACT [] synonym: "neonatal Bartter syndrome type 4B with sensorineural deafness" EXACT [] xref: ICD10CM:E26.8 xref: MIM:613090 is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110147 name: Bartter disease type 5 def: "A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27120771] synonym: "BARTS5" EXACT OMO:0003012 [] synonym: "Bartter syndrome, type 5, antenatal, transient" EXACT [] xref: ICD10CM:E26.8 xref: MIM:300971 is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110148 name: Charcot-Marie-Tooth disease type 1A def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1677316, url:https\://www.ncbi.nlm.nih.gov/pubmed/21326314] subset: DO_rare_slim synonym: "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 1A" EXACT [] synonym: "CMT1A" EXACT OMO:0003012 [] synonym: "hereditary motor and sensory neuropathy 1A" EXACT [] synonym: "HMSN1A" EXACT OMO:0003012 [] synonym: "microduplication 17p12" EXACT [] xref: GARD:1245 xref: ICD10CM:G60.0 xref: MIM:118220 xref: ORDO:101081 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110149 name: Charcot-Marie-Tooth disease type 1F def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12566280] subset: DO_rare_slim synonym: "Charcot-Marie-Tooth neuropathy type 1F" EXACT [] synonym: "CMT1F" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:607734 xref: ORDO:101085 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110150 name: Charcot-Marie-Tooth disease type 1D def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9537424] subset: DO_rare_slim synonym: "Charcot-Marie-Tooth neuropathy type 1D" EXACT [] synonym: "CMT1D" EXACT OMO:0003012 [] synonym: "hereditary motor and sensory neuropathy 1D" EXACT [] synonym: "HMSN ID" EXACT OMO:0003012 [] synonym: "HMSN1D" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MESH:C537985 xref: MIM:607678 xref: ORDO:101084 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110151 name: Charcot-Marie-Tooth disease type 1C def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12525712] subset: DO_rare_slim synonym: "Charcot-Marie-Tooth neuropathy type 1C" EXACT [] synonym: "CMT slow nerve conduction type C" EXACT [] synonym: "CMT1C" EXACT OMO:0003012 [] synonym: "HMSN IC" EXACT OMO:0003012 [] synonym: "HMSN1C" EXACT OMO:0003012 [] synonym: "neuropathy hereditary motor and sensory type 1C" EXACT [] xref: ICD10CM:G60.0 xref: MESH:C537984 xref: MIM:601098 xref: ORDO:101083 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110152 name: Charcot-Marie-Tooth disease type 1B def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7693129] subset: DO_rare_slim synonym: "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B" EXACT [] synonym: "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 1B" EXACT [] synonym: "CMT1B" EXACT OMO:0003012 [] synonym: "hereditary motor and sensory neuropathy IB" EXACT [] synonym: "HMSN IB" EXACT OMO:0003012 [] synonym: "HMSN1B" EXACT OMO:0003012 [] synonym: "peroneal muscular atrophy" EXACT [] xref: ICD10CM:G60.0 xref: MIM:118200 xref: ORDO:101082 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110153 name: Charcot-Marie-Tooth disease type 1E def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10330345] subset: DO_rare_slim synonym: "autosomal dominant Charcot-Marie-Tooth neuropathy and deafness" EXACT [] synonym: "Charcot-Marie-Tooth disease and deafness" EXACT [] synonym: "Charcot-Marie-Tooth disease demyelinating type 1E" EXACT [] synonym: "Charcot-Marie-Tooth disease-deafness" EXACT [] synonym: "CMT1E" EXACT OMO:0003012 [] xref: GARD:9190 xref: ICD10CM:G60.0 xref: MIM:118300 xref: ORDO:90658 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110154 name: Charcot-Marie-Tooth disease type 2A1 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11389829] subset: DO_rare_slim synonym: "autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1" EXACT [] synonym: "Charcot-Marie-Tooth disease neuronal type 2A1" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2A1" EXACT [] synonym: "CMT2A1" EXACT OMO:0003012 [] synonym: "hereditary motor and sensory neuropathy IIA1" EXACT [] synonym: "HMSN IIA1" EXACT OMO:0003012 [] synonym: "HMSN2A1" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:118210 xref: ORDO:99946 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110155 name: Charcot-Marie-Tooth disease type 2A2A def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15064763, url:https\://www.ncbi.nlm.nih.gov/pubmed/19889647] subset: DO_rare_slim synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2" EXACT [] synonym: "Charcot-Marie-Tooth neuronal type 2A2" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2A2" EXACT [] synonym: "CMT2A2A" EXACT OMO:0003012 [] synonym: "hereditary motor and sensory neuropathy IIA2" EXACT [] synonym: "HMSN IIA2" EXACT OMO:0003012 [] synonym: "HMSN2A2" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:609260 xref: ORDO:99947 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110156 name: Charcot-Marie-Tooth disease type 2B1 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11799477] subset: DO_rare_slim synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1" EXACT [] synonym: "autosomal recessive axonal CMT4C1" EXACT [] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2B1" EXACT [] synonym: "Charcot-Marie-Tooth disease neuronal type 2B1" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2B1" EXACT [] synonym: "CMT2B1" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MESH:C537990 xref: MIM:605588 xref: ORDO:98856 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110157 name: Charcot-Marie-Tooth disease type 2J def: "A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10071056] subset: DO_rare_slim synonym: "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2J" EXACT [] synonym: "CMT2J" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:607736 xref: ORDO:99943 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110158 name: Charcot-Marie-Tooth disease type 2I def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10071056] subset: DO_rare_slim synonym: "Charcot-Marie-Tooth neuropathy type 2I" EXACT [] synonym: "CMT2I" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MESH:C535416 xref: MIM:607677 xref: ORDO:99942 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110159 name: Charcot-Marie-Tooth disease type 2B def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12545426] subset: DO_rare_slim synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2B" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2B" EXACT [] synonym: "CMT2B" EXACT OMO:0003012 [] synonym: "hereditary motor and sensory nueropathy IIB" EXACT [] synonym: "HMSN IIB" EXACT OMO:0003012 [] synonym: "HMSN2B" EXACT OMO:0003012 [] xref: GARD:9192 xref: ICD10CM:G60.0 xref: MESH:C537989 xref: MIM:600882 xref: ORDO:99936 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110160 name: Charcot-Marie-Tooth disease axonal type 2T def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26991897] subset: DO_rare_slim synonym: "AR-CMT2T" EXACT OMO:0003012 [] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2T" EXACT [] synonym: "CMT2T" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:617017 xref: ORDO:443950 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110161 name: Charcot-Marie-Tooth disease type 2R def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23562820, url:https\://www.ncbi.nlm.nih.gov/pubmed/25893792] subset: DO_rare_slim synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2R" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2R" EXACT [] synonym: "CMT2R" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:615490 xref: ORDO:397968 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110162 name: Charcot-Marie-Tooth disease, axonal type 2W def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22930593] synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2W" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2W" EXACT [] synonym: "CMT2W" EXACT OMO:0003012 [] xref: MIM:616625 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110163 name: Charcot-Marie-Tooth disease axonal type 2F def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15122254] subset: DO_rare_slim synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2F" EXACT [] synonym: "Charcot-Marie-Tooth neuronal type 2F" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2F" EXACT [] synonym: "CMT2F" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:606595 xref: ORDO:99940 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110164 name: Charcot-Marie-Tooth disease type 2D def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12690580] subset: DO_rare_slim synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2D" EXACT [] synonym: "Charcot-Marie-Tooth disease neuronal type 2D" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2D" EXACT [] synonym: "CMT2D" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:601472 xref: ORDO:99938 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110165 name: Charcot-Marie-Tooth disease type 2E def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10841809, url:https\://www.ncbi.nlm.nih.gov/pubmed/17620486] subset: DO_rare_slim synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2E" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2E" EXACT [] synonym: "CMT2E" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:607684 xref: ORDO:99939 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110166 name: Charcot-Marie-Tooth disease axonal type 2H def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11166163] subset: DO_rare_slim synonym: "AR-CMT2C" EXACT OMO:0003012 [] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features" EXACT [] synonym: "autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features" EXACT [] synonym: "Autosomal recessive axonal CMT4C2" EXACT [] synonym: "Axonal Charcot-Marie-Tooth disease with pyramidal involvement" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2H" EXACT [] synonym: "CMT2H" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:607731 xref: ORDO:101102 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110167 name: Charcot-Marie-Tooth disease axonal type 2K def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12707075] subset: DO_rare_slim synonym: "ARCMT2K" EXACT OMO:0003012 [] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K" EXACT [] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2K" EXACT [] synonym: "autosomal recessive axonal CMT4C4" EXACT [] synonym: "autosomal recessive Charcot-Marie-Tooth disease with hoarseness" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy axonal type 2K" EXACT [] xref: ICD10CM:G60.0 xref: MIM:607831 xref: ORDO:101097 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110168 name: Charcot-Marie-Tooth disease type 2Y def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25125609] subset: DO_rare_slim synonym: "autosomal dominant axonal Charcot-Marie-Tooth type 2Y" EXACT [] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2Y" EXACT [] synonym: "CMT2 due to VCP mutation" EXACT [] synonym: "CMT2Y" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:616687 xref: ORDO:435387 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110169 name: Charcot-Marie-Tooth disease axonal type 2P def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20865121] subset: DO_rare_slim synonym: "Charcot-Marie-Tooth disease type 2P" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2P" EXACT [] synonym: "CMT2P" EXACT OMO:0003012 [] xref: GARD:12435 xref: ICD10CM:G60.0 xref: MIM:614436 xref: ORDO:300319 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110170 name: Charcot-Marie-Tooth disease axonal type 2Q def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23141294] subset: DO_rare_slim synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q" EXACT [] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Q" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2Q" EXACT [] synonym: "CMT2Q" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:615025 xref: ORDO:329258 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110171 name: Charcot-Marie-Tooth disease axonal type 2S def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25439726] subset: DO_rare_slim synonym: "autosomal recessive axonal Charcot-Marie-Tooth type 2S" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2S" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2S" EXACT [] synonym: "CMT2S" EXACT OMO:0003012 [] xref: MIM:616155 xref: ORDO:443073 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110172 name: obsolete Charcot-Marie-Tooth disease axonal type 2G is_obsolete: true [Term] id: DOID:0110173 name: Charcot-Marie-Tooth disease axonal type 2U def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23729695] subset: DO_rare_slim synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U" EXACT [] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2U" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2U" EXACT [] synonym: "CMT2U" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:616280 xref: ORDO:397735 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110174 name: Charcot-Marie-Tooth disease axonal type 2L def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15565283] subset: DO_rare_slim synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2L" EXACT [] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2L" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy axonal type 2L" EXACT [] synonym: "CMT2L" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:608673 xref: ORDO:99945 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110175 name: Charcot-Marie-Tooth disease axonal type 2O def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21820100] subset: DO_rare_slim synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2O" EXACT [] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2O" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy axonal type 2O" EXACT [] xref: ICD10CM:G60.0 xref: MIM:614228 xref: ORDO:284232 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110176 name: Charcot-Marie-Tooth disease axonal type 2X def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26556829] subset: DO_rare_slim synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2X" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2X" EXACT [] xref: MIM:616668 xref: ORDO:466775 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110177 name: Charcot-Marie-Tooth disease axonal type 2N def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20045102] subset: DO_rare_slim synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2N" EXACT [] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2N" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy axonal type 2N" EXACT [] synonym: "CMT2N" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:613287 xref: ORDO:228174 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110178 name: Charcot-Marie-Tooth disease axonal type 2V def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25818867] subset: DO_rare_slim synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V" EXACT [] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2V" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2V" EXACT [] synonym: "CMT2V" EXACT OMO:0003012 [] xref: MIM:616491 xref: ORDO:447964 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110179 name: Charcot-Marie-Tooth disease type 2B2 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19290556] subset: DO_rare_slim synonym: "AR-CMT2B2" EXACT OMO:0003012 [] synonym: "ARCMT2B" EXACT OMO:0003012 [] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2" EXACT [] synonym: "Autosomal recessive axonal CMT4C3" EXACT [] synonym: "Charcot-Marie-Tooth disease neuronal type 2B2" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2B2" EXACT [] synonym: "CMT2B2" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MESH:C537991 xref: MIM:605589 xref: ORDO:101101 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110180 name: Charcot-Marie-Tooth disease axonal type 2CC def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27040688] synonym: "Charcot-Marie-Tooth neuropathy type 2CC" EXACT [] synonym: "CMT2CC" EXACT OMO:0003012 [] xref: MIM:616924 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110181 name: Charcot-Marie-Tooth disease axonal type 2Z def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26497905] subset: DO_rare_slim synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2Z" EXACT [] synonym: "CMT2Z" EXACT OMO:0003012 [] xref: MIM:616688 xref: ORDO:466768 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110182 name: Charcot-Marie-Tooth disease axonal type 2C def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20037588] subset: DO_rare_slim synonym: "autosomal cominant axonal Charcot-Marie-Tooth disease type 2C" EXACT [] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2C" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2C" EXACT [] synonym: "CMT2C" EXACT OMO:0003012 [] synonym: "hereditary motor and sensory neuropathy type IIc" EXACT [] synonym: "HMSN2C" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:606071 xref: ORDO:99937 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110183 name: Charcot-Marie-Tooth disease type 4C def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14574644] subset: DO_rare_slim synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 4C" EXACT [] synonym: "CMT4C" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:601596 xref: ORDO:99949 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110184 name: Charcot-Marie-Tooth disease type 4J def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17572665] subset: DO_rare_slim synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4J" EXACT [] synonym: "CMT4J" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:611228 xref: ORDO:139515 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110185 name: Charcot-Marie-Tooth disease type 4A def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11743579] subset: DO_rare_slim synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 4A" EXACT [] synonym: "CMT4A" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MESH:C535419 xref: MIM:214400 xref: ORDO:99948 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110186 name: Charcot-Marie-Tooth disease type 4D def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10831399] subset: DO_rare_slim synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 4D" EXACT [] synonym: "CMT4D" EXACT OMO:0003012 [] synonym: "hereditary motor and sensory neuropathy LOM type" EXACT [] synonym: "HMSN Lom type" EXACT [] synonym: "HMSN-Lom" EXACT [] synonym: "HMSN4D" EXACT OMO:0003012 [] synonym: "HMSNL" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:601455 xref: ORDO:99950 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110187 name: Charcot-Marie-Tooth disease type 4K def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24027061] subset: DO_rare_slim synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K" EXACT [] synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K" EXACT [] synonym: "CMT4K" EXACT OMO:0003012 [] synonym: "SURF1-related Charcot-Marie-Tooth disease type 4" EXACT [] synonym: "SURF1-related CMT4" EXACT [] synonym: "SURF1-related severe demyelinating Charcot-Marie-Tooth disease" EXACT [] xref: ICD10CM:G60.0 xref: MIM:616684 xref: ORDO:391351 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110188 name: Leber congenital amaurosis 14 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17011878] synonym: "LCA14" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C567636 xref: MIM:613341 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110189 name: Leber congenital amaurosis 15 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15024725] synonym: "LCA15" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613843 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110190 name: Charcot-Marie-Tooth disease type 4B2 def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12554688] subset: DO_rare_slim synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 4B2" EXACT [] synonym: "CMT4B2" EXACT OMO:0003012 [] xref: GARD:9200 xref: ICD10CM:G60.0 xref: MESH:C535421 xref: MIM:604563 xref: ORDO:99956 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110191 name: Charcot-Marie-Tooth disease type 4B1 def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10802647] subset: DO_rare_slim synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 4B1" EXACT [] synonym: "CMT4B1" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MESH:C535420 xref: MIM:601382 xref: ORDO:99955 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110192 name: Charcot-Marie-Tooth disease type 4H def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15744041, url:https\://www.ncbi.nlm.nih.gov/pubmed/17564959] subset: DO_rare_slim synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4H" EXACT [] synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 4H" EXACT [] synonym: "CMT4H" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:609311 xref: ORDO:99954 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110193 name: Charcot-Marie-Tooth disease type 4F def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11157804] subset: DO_rare_slim synonym: "CMT4F" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:614895 xref: ORDO:99952 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110194 name: Charcot-Marie-Tooth disease type 4B3 def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23749797] subset: DO_rare_slim synonym: "CMT4B3" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:615284 xref: ORDO:363981 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110195 name: Charcot-Marie-Tooth disease type 4E def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15184631, url:https\://www.ncbi.nlm.nih.gov/pubmed/9537424] subset: DO_rare_slim synonym: "autosomal recessive congenital hypomyelinating or amyelinating neuropathy" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 4E" EXACT [] synonym: "CMT4E" EXACT OMO:0003012 [] synonym: "Neuropathy, congenital hypomyelinating, 1" EXACT [] xref: ICD10CM:G60.0 xref: MIM:605253 xref: ORDO:99951 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110196 name: Charcot-Marie-Tooth disease type 4G def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19536174] subset: DO_rare_slim synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4G" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 4G" EXACT [] synonym: "CMT4G" EXACT OMO:0003012 [] synonym: "hereditary motor and sensory neuropathy Russe type" EXACT [] synonym: "HMSNR" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:605285 xref: ORDO:99953 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110197 name: Charcot-Marie-Tooth disease dominant intermediate B def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15731758] subset: DO_rare_slim synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate B" EXACT [] synonym: "CMTDI1" EXACT OMO:0003012 [] synonym: "CMTDIB" EXACT OMO:0003012 [] synonym: "DI-CMTB" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MESH:C564703 xref: MIM:606482 xref: ORDO:100044 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110198 name: Charcot-Marie-Tooth disease recessive intermediate C def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23777631] subset: DO_rare_slim synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type C" EXACT [] synonym: "CMTRIC" EXACT OMO:0003012 [] synonym: "RI-CMT type C" EXACT [] synonym: "RI-CMTC" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:615376 xref: ORDO:369867 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110199 name: Charcot-Marie-Tooth disease dominant intermediate C def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16429158] subset: DO_rare_slim synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type C" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate C" EXACT [] synonym: "CMTDIC" EXACT OMO:0003012 [] synonym: "DI-CMTC" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MESH:C564257 xref: MIM:608323 xref: ORDO:100045 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110200 name: Charcot-Marie-Tooth disease dominant intermediate D def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10406984] subset: DO_rare_slim synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type D" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate D" EXACT [] synonym: "CMTDID" EXACT OMO:0003012 [] synonym: "DI-CMTD" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MESH:C564333 xref: MIM:607791 xref: ORDO:100046 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110201 name: Charcot-Marie-Tooth disease recessive intermediate A def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12499475] subset: DO_rare_slim synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type A" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate A" EXACT [] synonym: "CMTRIA" EXACT OMO:0003012 [] synonym: "RI-CMTA" EXACT OMO:0003012 [] xref: MESH:C564256 xref: MIM:608340 xref: ORDO:217055 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110202 name: Charcot-Marie-Tooth disease dominant intermediate A def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11533914] subset: DO_rare_slim synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type A" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate A" EXACT [] synonym: "CMTDIA" EXACT OMO:0003012 [] synonym: "DI-CMTA" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MESH:C564702 xref: MIM:606483 xref: ORDO:100043 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110203 name: Charcot-Marie-Tooth disease recessive intermediate D def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25152455] subset: DO_rare_slim synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type D" EXACT [] synonym: "CMTRID" EXACT OMO:0003012 [] synonym: "RI-CMT type D" EXACT [] xref: ICD10CM:G60.0 xref: MIM:616039 xref: ORDO:435998 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110204 name: Charcot-Marie-Tooth disease recessive intermediate B def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20920668] subset: DO_rare_slim synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type B" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate B" EXACT [] synonym: "CMTRIB" EXACT OMO:0003012 [] synonym: "RI-CMTB" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:613641 xref: ORDO:254334 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110205 name: Charcot-Marie-Tooth disease dominant intermediate E def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22187985] subset: DO_rare_slim synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type E" EXACT [] synonym: "Charcot-Marie-Tooth disease-nephropathy syndrome" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis" EXACT [] synonym: "CMTDIE" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:614455 xref: ORDO:93114 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110206 name: Charcot-Marie-Tooth disease dominant intermediate F def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23434117] subset: DO_rare_slim synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type F" EXACT [] synonym: "CMTDIF" EXACT OMO:0003012 [] xref: ICD10CM:G60.0 xref: MIM:615185 xref: ORDO:352670 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110207 name: Charcot-Marie-Tooth disease X-linked dominant 6 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23297365] subset: DO_rare_slim synonym: "Charcot-Marie-Tooth neuropathy X-linked dominant 6" EXACT [] synonym: "CMT6X" EXACT OMO:0003012 [] synonym: "CMTX6" EXACT OMO:0003012 [] synonym: "X-linked Charcot-Marie-Tooth disease type 6" EXACT [] xref: ICD10CM:G60.0 xref: MIM:300905 xref: ORDO:352675 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0110208 name: Charcot-Marie-Tooth disease X-linked recessive 2 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1557086] subset: DO_rare_slim synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 2" EXACT [] synonym: "CMTX2" EXACT OMO:0003012 [] synonym: "X-linked Charcot-Marie-Tooth disease type 2" EXACT [] xref: ICD10CM:G60.0 xref: MESH:C535302 xref: MIM:302801 xref: ORDO:101076 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0110209 name: Charcot-Marie-Tooth disease X-linked dominant 1 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8266101] subset: DO_rare_slim synonym: "Charcot-Marie-Tooth neuropathy X-linked dominant 1" EXACT [] synonym: "CMT1X" EXACT OMO:0003012 [] synonym: "CMTX1" EXACT OMO:0003012 [] synonym: "X-linked Charcot-Marie-Tooth disease type 1" EXACT [] xref: ICD10CM:G60.0 xref: MIM:302800 xref: ORDO:101075 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0110210 name: Charcot-Marie-Tooth disease X-linked recessive 5 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15955956] subset: DO_rare_slim synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 5" EXACT [] synonym: "CMT5X" EXACT OMO:0003012 [] synonym: "CMTX5" EXACT OMO:0003012 [] synonym: "optic atrophy, polyneuropathy, and deafness" EXACT [] synonym: "Rosenberg-Chutorian syndrome" EXACT [] synonym: "X-linked Charcot-Marie-Tooth disease type 5" EXACT [] xref: ICD10CM:G60.0 xref: MIM:311070 xref: ORDO:99014 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0110211 name: Charcot-Marie-Tooth disease X-linked recessive 3 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1557086, url:https\://www.ncbi.nlm.nih.gov/pubmed/1674639] subset: DO_rare_slim synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 3" EXACT [] synonym: "CMT3X" EXACT OMO:0003012 [] synonym: "CMTX3" EXACT OMO:0003012 [] synonym: "X-linked Charcot-Marie-Tooth disease type 3" EXACT [] xref: ICD10CM:G60.0 xref: MESH:C535303 xref: MIM:302802 xref: ORDO:101077 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0110212 name: Charcot-Marie-Tooth disease X-linked recessive 4 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23217327] subset: DO_rare_slim synonym: "axonal motor sensory neuropathy with deafness and mental retardation" EXACT [] synonym: "Charcot-Marie-Tooth disease with deafness and mental retardation" EXACT [] synonym: "CMT4X" EXACT OMO:0003012 [] synonym: "CMTX4" EXACT OMO:0003012 [] synonym: "Cowchock syndrome" EXACT [] synonym: "NADMR" EXACT OMO:0003012 [] synonym: "NAMSD" EXACT OMO:0003012 [] synonym: "X-linked Charcot-Marie-Tooth disease type 4" EXACT [] xref: ICD10CM:G60.0 xref: MIM:310490 xref: ORDO:101078 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0110213 name: isolated cleft palate def: "A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7143384] subset: DO_rare_slim xref: ICD10CM:Q35.1 xref: ICD10CM:Q35.3 xref: ICD10CM:Q35.5 xref: ICD10CM:Q35.7 xref: ICD10CM:Q35.9 xref: MIM:119540 xref: ORDO:2014 is_a: DOID:674 ! cleft palate [Term] id: DOID:0110214 name: cleft soft palate def: "A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate." [url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772] subset: DO_rare_slim synonym: "cleft velum" EXACT [] synonym: "cleft velum palatinum" EXACT [] synonym: "soft cleft palate" EXACT [] xref: ICD10CM:Q35.3 xref: MESH:C562950 xref: MIM:119570 xref: ORDO:99772 is_a: DOID:674 ! cleft palate [Term] id: DOID:0110215 name: Leber congenital amaurosis 5 def: "A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17546029] synonym: "LCA5" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:604537 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110216 name: Leber congenital amaurosis 11 def: "A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16384941] synonym: "LCA11" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C564140 xref: MIM:613837 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110217 name: Leber congenital amaurosis 17 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23307924] synonym: "LCA17" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:615360 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110218 name: Brugada syndrome 1 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9521325] synonym: "BRGDA1" EXACT OMO:0003012 [] xref: ICD10CM:I49.8 xref: MIM:601144 is_a: DOID:0050451 ! Brugada syndrome is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110219 name: Brugada syndrome 2 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17967977] synonym: "BRGDA2" EXACT OMO:0003012 [] xref: ICD10CM:I49.8 xref: MESH:C567087 xref: MIM:611777 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110220 name: Brugada syndrome 3 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17224476] subset: DO_rare_slim synonym: "BRGDA3" EXACT OMO:0003012 [] xref: GARD:10361 xref: ICD10CM:I49.8 xref: MESH:C567509 xref: MIM:611875 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110221 name: Brugada syndrome 4 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17224476] subset: DO_rare_slim synonym: "BRGDA4" EXACT OMO:0003012 [] xref: GARD:10362 xref: ICD10CM:I49.8 xref: MESH:C567508 xref: MIM:611876 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110222 name: Brugada syndrome 5 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18464934] synonym: "BRGDA5" EXACT OMO:0003012 [] xref: ICD10CM:I49.8 xref: MESH:C567556 xref: MIM:612838 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110223 name: Brugada syndrome 6 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19122847] synonym: "BRGDA6" EXACT OMO:0003012 [] xref: ICD10CM:I49.8 xref: MESH:C567735 xref: MIM:613119 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110224 name: Brugada syndrome 7 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20031595] synonym: "BRGDA7" EXACT OMO:0003012 [] xref: ICD10CM:I49.8 xref: MESH:C567734 xref: MIM:613120 is_a: DOID:0050451 ! Brugada syndrome is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110225 name: Brugada syndrome 8 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19165230] synonym: "BRGDA8" EXACT OMO:0003012 [] xref: ICD10CM:I49.8 xref: MESH:C567732 xref: MIM:613123 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110226 name: Brugada syndrome 9 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21349352] synonym: "BRGDA9" EXACT OMO:0003012 [] xref: ICD10CM:I49.8 xref: MIM:616399 is_a: DOID:0050451 ! Brugada syndrome is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110227 name: cataract 32 multiple types def: "A cataract that has_material_basis_in mutation in the region 14q22-q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6694185] synonym: "anterior polar cataract 1" NARROW [] synonym: "CTAA1" NARROW OMO:0003012 [] synonym: "CTPP5" NARROW OMO:0003012 [] synonym: "CTRCT32" EXACT OMO:0003012 [] synonym: "posterior polar cataract 5" NARROW [] xref: ICD10CM:Q12.0 xref: MIM:115650 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110228 name: cataract 8 multiple types def: "A cataract that has_material_basis_in variation in the region 1pter-p36.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7607651] synonym: "cataract, congenital, Volkmann type" EXACT [] synonym: "CCV" EXACT OMO:0003012 [] synonym: "CTRCT8" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:115665 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110229 name: cataract 6 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19005574] synonym: "age related cortical cataract 2" NARROW [] synonym: "ARCC2" NARROW OMO:0003012 [] synonym: "CTPP1" NARROW OMO:0003012 [] synonym: "CTRCT6" EXACT OMO:0003012 [] synonym: "posterior polar cataract 1" NARROW [] xref: ICD10CM:Q12.0 xref: MIM:116600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110230 name: cataract 34 multiple types def: "A cataract that has_material_basis_in variation in the region 1p34.3-p32.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17893665] synonym: "autosomal recessive congenital cataract 3" EXACT [] synonym: "cataract 34 multiple types with or without microcornea" EXACT [] synonym: "CATC3" EXACT OMO:0003012 [] synonym: "CTRCT34" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:612968 is_a: DOID:83 ! cataract [Term] id: DOID:0110231 name: cataract 1 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9497259] synonym: "CAE1" NARROW OMO:0003012 [] synonym: "cataract 1, multiple types, with or without microcornea" EXACT [] synonym: "CTRCT1" EXACT OMO:0003012 [] synonym: "CZP1" NARROW OMO:0003012 [] synonym: "Duffy linked cataract" EXACT [] synonym: "zonular pulverulent cataract 1" NARROW [] xref: ICD10CM:Q12.0 xref: MIM:116200 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110232 name: cataract 29 def: "A cataract that has_material_basis_in variation in the region 2pter-p24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15933805] subset: DO_rare_slim synonym: "cataract 29 coralliform" EXACT [] xref: ICD10CM:Q12.0 xref: MIM:115800 xref: ORDO:98990 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110233 name: cataract 27 def: "A cataract that has_material_basis_in mutation in the region 2p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12091400] synonym: "cataract 27 nuclear progressive" EXACT [] synonym: "CTRCT27" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:607304 is_a: DOID:83 ! cataract [Term] id: DOID:0110234 name: cataract 4 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9927684] synonym: "cataract 4 multiple types with or without microcornea" EXACT [] synonym: "CCA3" NARROW OMO:0003012 [] synonym: "congenital cataract cerulean type 3" NARROW [] synonym: "CTRCT4" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:115700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110235 name: cataract 2 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10521291] synonym: "cataract 2 multiple types with or without microcornea" EXACT [] synonym: "CTRCT2" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:604307 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110236 name: cataract 39 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23288985] synonym: "autosomal dominant cataract 39 multiple types" EXACT [] synonym: "CTRCT39" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:615188 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110237 name: cataract 42 def: "A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35." [url:https\://pubmed.ncbi.nlm.nih.gov/23508780/] synonym: "CTRCT42" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:115900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110238 name: cataract 18 def: "A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21636066] synonym: "autosomal recessive congenital cataract 2" EXACT [] synonym: "cataract 18 autosomal recessive" EXACT [] synonym: "CATC2" EXACT OMO:0003012 [] synonym: "CTRCT18" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:610019 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110239 name: cataract 12 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10729115] synonym: "CTRCT12" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:611597 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110240 name: cataract 20 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16141006] synonym: "CTRCT20" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:116100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110241 name: cataract 41 def: "A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23531866] synonym: "congenital nuclear type cataract 41" EXACT [] synonym: "CTRCT41" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:116400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110242 name: cataract 13 with adult i phenotype def: "A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11739194] synonym: "CTRCT13" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:116700 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110243 name: cataract 46 juvenile-onset def: "A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26788539] synonym: "CTRCT46" EXACT OMO:0003012 [] synonym: "juvenilae cataract Hutterite type" EXACT [] xref: ICD10CM:Q12.0 xref: MIM:212500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110244 name: cataract 28 def: "A cataract that has_material_basis_in variation in the region 6p12-q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15452352] synonym: "age-related cortical cataract 1" EXACT [] synonym: "ARCC1" EXACT OMO:0003012 [] synonym: "CTRCT28" EXACT OMO:0003012 [] xref: MIM:609026 is_a: DOID:83 ! cataract [Term] id: DOID:0110245 name: cataract 38 def: "A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22415731] synonym: "autosomal recessive congenital cataract 5" EXACT [] synonym: "CATC5" EXACT OMO:0003012 [] synonym: "CTRCT38" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:614691 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110246 name: cataract 26 multiple types def: "A cataract that has_material_basis_in variation in the region 9q13-q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11179024] synonym: "CTRCT26" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:605749 is_a: DOID:83 ! cataract [Term] id: DOID:0110247 name: cataract 36 def: "A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21436445] synonym: "autosomal recessive congenital cataract 4" EXACT [] synonym: "CATC4" EXACT OMO:0003012 [] synonym: "CTRCT36" EXACT OMO:0003012 [] xref: MIM:613887 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110248 name: cataract 30 def: "A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19126778] subset: DO_rare_slim synonym: "cataract 30 pulverulent" EXACT [] synonym: "cataract Coppock-like" EXACT [] synonym: "CTRCT30" EXACT OMO:0003012 [] synonym: "Dusty cataract" EXACT [] xref: ICD10CM:Q12.0 xref: MIM:116300 xref: ORDO:98984 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110249 name: cataract 11 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9620774] synonym: "CPP4" NARROW OMO:0003012 [] synonym: "CTPP4" NARROW OMO:0003012 [] synonym: "CTRCT11" EXACT OMO:0003012 [] synonym: "posterior polar cataract 4" NARROW [] xref: ICD10CM:Q12.0 xref: MIM:610623 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110250 name: cataract 16 multiple types def: "A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11577372] synonym: "CTPP2" NARROW OMO:0003012 [] synonym: "CTRCT16" EXACT OMO:0003012 [] synonym: "posterior polar cataract 2" NARROW [] xref: ICD10CM:Q12.0 xref: MIM:613763 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110251 name: cataract 15 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10802646] synonym: "CTRCT15" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:615274 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110252 name: cataract 37 def: "A cataract that has_material_basis_in variation in the region 12q24.2-q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21731060] synonym: "CCA5" NARROW OMO:0003012 [] synonym: "congenital cataract cerulean type 5" NARROW [] synonym: "CTRCT37" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:614422 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110253 name: cataract 14 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9199569] synonym: "CAE3" NARROW OMO:0003012 [] synonym: "CTRCT14" EXACT OMO:0003012 [] synonym: "CZP3" NARROW OMO:0003012 [] synonym: "zonular pulverulent cataract 3" NARROW [] xref: ICD10CM:Q12.0 xref: MIM:601885 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110254 name: cataract 25 def: "A cataract that has_material_basis_in variation in the region 15q21-q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11133359] subset: DO_rare_slim synonym: "CCSSO" EXACT OMO:0003012 [] synonym: "central pouch-like cataract with sutural opacities" EXACT [] synonym: "central saccular cataract with sutural opacities" EXACT [] synonym: "CTRCT25" EXACT OMO:0003012 [] synonym: "early-onset cataract with Y-shaped suture opacities" EXACT [] xref: ICD10CM:Q12.0 xref: MIM:605728 xref: ORDO:98985 is_a: DOID:83 ! cataract [Term] id: DOID:0110255 name: cataract 5 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12089525] synonym: "CTRCT5" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:116800 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110256 name: cataract 21 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11772997] synonym: "cataract 21 multiple types with or without microcornea" EXACT [] synonym: "CCA4" NARROW OMO:0003012 [] synonym: "congenital cataract Cerulean type 4" NARROW [] synonym: "CTRCT21" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:610202 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110257 name: cataract 24 def: "A cataract that has_material_basis_in variation in the region 17p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8852669] synonym: "anterior polar cataract 2" NARROW [] synonym: "anterior polar cataract 24" NARROW [] synonym: "CTAA2" NARROW OMO:0003012 [] synonym: "CTRCT24" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:601202 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110258 name: cataract 10 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7573044] synonym: "CCZS" NARROW OMO:0003012 [] synonym: "congenital zonular cataract with sutural opacities" NARROW [] synonym: "CTRCT10" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:600881 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110259 name: cataract 43 def: "A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24549050] synonym: "CTRCT43" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:616279 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110260 name: cataract 7 def: "A cataract that has_material_basis_in variation in the region 17q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7704021] synonym: "CCA1" NARROW OMO:0003012 [] synonym: "Cerulean type cataract 7" NARROW [] synonym: "congenital Cerulean type cataract 1" NARROW [] synonym: "CTRCT7" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:115660 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110261 name: cataract 35 def: "A cataract that has_material_basis_in variation in the region 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15671291] synonym: "autosomal recessive congenital nuclear cataract 1" EXACT [] synonym: "cataract 35, congenital nuclear" EXACT [] synonym: "CATCN1" EXACT OMO:0003012 [] synonym: "CTRCT35" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:609376 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110262 name: cataract 45 def: "A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25804400] synonym: "CTRCT45" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:616851 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110263 name: cataract 19 multiple types def: "A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11917274] synonym: "CTRCT19" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:615277 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110264 name: cataract 33 def: "A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17225135] synonym: "cortical cataract 33" NARROW [] synonym: "CTRCT33" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:611391 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110265 name: cataract 31 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17701905] synonym: "CPP3" NARROW OMO:0003012 [] synonym: "CTPP3" NARROW OMO:0003012 [] synonym: "CTRCT31" EXACT OMO:0003012 [] synonym: "posterior polar cataract 3" NARROW [] xref: ICD10CM:Q12.0 xref: MIM:605387 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110266 name: cataract 9 multiple types def: "A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26867756, url:https\://www.omim.org/entry/604219] synonym: "autosomal recessive congenital cataract 1" NARROW [] synonym: "cataract 9 multiple types with or without microcornea" EXACT [] synonym: "CATC1" NARROW OMO:0003012 [] synonym: "CTRCT9" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:604219 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110267 name: cataract 44 def: "A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26200341] subset: DO_rare_slim synonym: "CTRCT44" EXACT OMO:0003012 [] synonym: "total early-onset cataract" EXACT [] xref: ICD10CM:Q12.0 xref: MIM:616509 xref: ORDO:98994 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110268 name: cataract 22 multiple types def: "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15914629] synonym: "autosomal recessive congenital nuclear cataract 2" NARROW [] synonym: "CATCN2" NARROW OMO:0003012 [] synonym: "CTRCT22" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:609741 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110269 name: cataract 3 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9158139] synonym: "cataract 3 multiple types with or without microcornea" EXACT [] synonym: "CCA2" NARROW OMO:0003012 [] synonym: "congenital Cerulean type cataract 2" NARROW [] synonym: "CTRCT3" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:601547 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110270 name: cataract 17 multiple types def: "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12360425] synonym: "autosomal recessive congenital nuclear cataract 3" NARROW [] synonym: "CATCN3" NARROW OMO:0003012 [] synonym: "CTRCT17" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:611544 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110271 name: cataract 23 def: "A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16960806] synonym: "CTRCT23" EXACT OMO:0003012 [] synonym: "lamellar cataract 23" EXACT [] xref: ICD10CM:Q12.0 xref: MIM:610425 is_a: DOID:83 ! cataract [Term] id: DOID:0110272 name: cataract 40 def: "A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15370543] synonym: "cataract 40 with or without microcornea" EXACT [] synonym: "cataract 40 X-linked" EXACT [] synonym: "CTRCT40" EXACT OMO:0003012 [] xref: ICD10CM:Q12.0 xref: MIM:302200 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:83 ! cataract [Term] id: DOID:0110273 name: autosomal dominant limb-girdle muscular dystrophy def: "A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3275904] subset: DO_rare_slim xref: ICD10CM:G71.0 xref: MIM:PS603511 xref: ORDO:102014 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11724 ! limb-girdle muscular dystrophy [Term] id: DOID:0110274 name: autosomal recessive limb-girdle muscular dystrophy def: "A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/13810212] subset: DO_rare_slim xref: ICD10CM:G71.0 xref: MIM:PS253600 xref: ORDO:102015 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11724 ! limb-girdle muscular dystrophy [Term] id: DOID:0110275 name: autosomal recessive limb-girdle muscular dystrophy type 2A def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7720071] subset: DO_rare_slim synonym: "Leyden-Moebius muscular dystrophy" EXACT [] synonym: "LGMD2A" EXACT OMO:0003012 [] synonym: "limb-girdle muscular dystrophy due to calpain deficiency" EXACT [] synonym: "muscular dystrophy, limb-girdle, type 2A" EXACT [] synonym: "pelvofemoral muscular dystrophy" EXACT [] synonym: "primary calpainopathy" EXACT [] xref: GARD:3845 xref: ICD10CM:G71.0 xref: MIM:253600 xref: ORDO:267 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110276 name: autosomal recessive limb-girdle muscular dystrophy type 2B def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9731527] subset: DO_rare_slim synonym: "LGMD2B" EXACT OMO:0003012 [] synonym: "LGMD3" EXACT OMO:0003012 [] synonym: "limb-girdle muscular dystrophy due to dysferlin deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy type 3" EXACT [] xref: ICD10CM:G71.0 xref: MIM:253601 xref: ORDO:268 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110277 name: autosomal recessive limb-girdle muscular dystrophy type 2C def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7481775] subset: DO_rare_slim synonym: "autosomal recessive Duchenne-like muscular dystrophy type 1" EXACT [] synonym: "deficiency of sarcoglycan gamma" EXACT [] synonym: "DMDA1" EXACT OMO:0003012 [] synonym: "gamma-sarcoglycanopathy" EXACT [] synonym: "LGMD2C" EXACT OMO:0003012 [] synonym: "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency" EXACT [] synonym: "Maghrebian myopathy" EXACT [] synonym: "muscular dystrophy, limb-girdle, type 2C" EXACT [] synonym: "SCARMD" EXACT OMO:0003012 [] synonym: "severe childhood autosomal recessive muscular dystrophy North African type" EXACT [] xref: ICD10CM:G71.0 xref: MIM:253700 xref: ORDO:353 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110278 name: autosomal recessive limb-girdle muscular dystrophy type 2D def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q." [url:https\://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy, url:https\://www.ncbi.nlm.nih.gov/pubmed/30055862] subset: DO_rare_slim synonym: "Alpha-sarcoglycanopathy" EXACT [] synonym: "DMDA2" EXACT OMO:0003012 [] synonym: "Duchenne-like autosomal recessive muscular dystrophy type 2" EXACT [] synonym: "LGMD2D" EXACT OMO:0003012 [] synonym: "muscular dystrophy, limb-girdle, type 2D" EXACT [] synonym: "primary adhalinopathy" EXACT [] xref: ICD10CM:G71.0 xref: MIM:608099 xref: ORDO:62 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110279 name: autosomal recessive limb-girdle muscular dystrophy type 2E def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7581448] subset: DO_rare_slim synonym: "Beta-sarcoglycanopathy" EXACT [] synonym: "LGMD2E" EXACT OMO:0003012 [] synonym: "Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency" EXACT [] synonym: "muscular dystrophy, limb-girdle, type 2E" EXACT [] xref: ICD10CM:G71.0 xref: MIM:604286 xref: ORDO:119 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110280 name: autosomal recessive limb-girdle muscular dystrophy type 2F def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8841194] subset: DO_rare_slim synonym: "delta-sarcoglycanopathy" EXACT [] synonym: "LGMD2F" EXACT OMO:0003012 [] synonym: "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency" EXACT [] xref: ICD10CM:G71.0 xref: MIM:601287 xref: ORDO:219 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110281 name: autosomal recessive limb-girdle muscular dystrophy type 2G def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10655062] subset: DO_rare_slim synonym: "LGMD2G" EXACT OMO:0003012 [] synonym: "limb-girdle muscular dystrophy due to telethonin deficiency" EXACT [] synonym: "muscular dystrophy, limb-girdle, type 2G" EXACT [] xref: ICD10CM:G71.0 xref: MIM:601954 xref: ORDO:34514 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110282 name: autosomal recessive limb-girdle muscular dystrophy type 2H def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11822024] subset: DO_rare_slim synonym: "LGMD2H" EXACT OMO:0003012 [] synonym: "limb-girdle muscular dystrophy due to TRIM32 deficiency" EXACT [] synonym: "muscular dystrophy Hutterite type" EXACT [] synonym: "sarcotubular myopathy" EXACT [] xref: ICD10CM:G71.0 xref: MIM:254110 xref: ORDO:1878 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110283 name: autosomal recessive limb-girdle muscular dystrophy type 2J def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12145747] subset: DO_rare_slim synonym: "LGMD2J" EXACT OMO:0003012 [] synonym: "muscular dystrophy, limb-girdle, type 2J" EXACT [] xref: ICD10CM:G71.0 xref: MIM:608807 xref: ORDO:140922 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110284 name: autosomal recessive limb-girdle muscular dystrophy type 2L def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20096397] subset: DO_rare_slim synonym: "LGMD2L" EXACT OMO:0003012 [] synonym: "muscular dystrophy, limb-girdle, type 2L" EXACT [] xref: ICD10CM:G71.0 xref: MIM:611307 xref: ORDO:206549 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110285 name: autosomal recessive limb-girdle muscular dystrophy type 2Q def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21109228] subset: DO_rare_slim synonym: "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency" EXACT [] synonym: "LGMD2Q" EXACT OMO:0003012 [] synonym: "muscular dystrophy, limb-girdle, type 2Q" EXACT [] xref: ICD10CM:G71.0 xref: MIM:613723 xref: ORDO:254361 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110286 name: obsolete autosomal recessive limb-girdle muscular dystrophy type 2R is_obsolete: true [Term] id: DOID:0110287 name: autosomal recessive limb-girdle muscular dystrophy type 2S def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23830518] subset: DO_rare_slim synonym: "LGMD2S" EXACT OMO:0003012 [] synonym: "muscular dystrophy, limb-girdle, type 2S" EXACT [] xref: ICD10CM:G71.0 xref: MIM:615356 xref: ORDO:369840 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110288 name: autosomal recessive limb-girdle muscular dystrophy type 2W def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25589244] subset: DO_rare_slim synonym: "LGMD2W" EXACT OMO:0003012 [] synonym: "muscular dystrophy, limb-girdle, type 2W" EXACT [] xref: MIM:616827 xref: ORDO:466801 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110289 name: autosomal recessive limb-girdle muscular dystrophy type 2Y def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24856141] subset: DO_rare_slim synonym: "autosomal recessive muscular dystrophy due to LAP1B deficiency" EXACT [] synonym: "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency" EXACT [] synonym: "LGMD2Y" EXACT OMO:0003012 [] synonym: "muscular dystrophy with progressive weakness, distal contractures and rigid spine" EXACT [] synonym: "muscular dystrophy, limb-girdle, type 2Y" EXACT [] xref: ICD10CM:G71.0 xref: MIM:617072 xref: ORDO:424261 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110290 name: autosomal recessive limb-girdle muscular dystrophy type 2X def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26642364] subset: DO_rare_slim synonym: "LGMD2X" EXACT OMO:0003012 [] synonym: "muscular dystrophy, limb-girdle, type 2X" EXACT [] xref: MIM:616812 xref: ORDO:476084 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110291 name: Leber congenital amaurosis 10 def: "A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16909394] synonym: "LCA10" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C565720 xref: MIM:611755 is_a: DOID:0050177 ! monogenic disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110292 name: autosomal recessive limb-girdle muscular dystrophy type 2O def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18195152] subset: DO_rare_slim synonym: "LGMD2O" EXACT OMO:0003012 [] synonym: "MDDGC3" EXACT OMO:0003012 [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related" EXACT [] xref: ICD10CM:G71.0 xref: MIM:613157 xref: ORDO:206564 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110293 name: autosomal recessive limb-girdle muscular dystrophy type 2P def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21388311] subset: DO_rare_slim synonym: "LGMD2P" EXACT OMO:0003012 [] synonym: "MDDGC9" EXACT OMO:0003012 [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C9" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related" EXACT [] xref: ICD10CM:G71.0 xref: MIM:613818 xref: ORDO:280333 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110294 name: autosomal recessive limb-girdle muscular dystrophy type 2T def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23768512] subset: DO_rare_slim synonym: "LGMD2T" EXACT OMO:0003012 [] synonym: "MDDGC14" EXACT OMO:0003012 [] synonym: "muscular dystrophy limb-girdle type 2T" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related" EXACT [] xref: ICD10CM:G71.0 xref: MIM:615352 xref: ORDO:363623 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110295 name: autosomal recessive limb-girdle muscular dystrophy type 2U def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23390185] subset: DO_rare_slim synonym: "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency" EXACT [] synonym: "LGMD2U" EXACT OMO:0003012 [] synonym: "MDDGC7" EXACT OMO:0003012 [] synonym: "muscular dystrophy limb-girdle type 2U" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7" EXACT [] xref: ICD10CM:G71.0 xref: MIM:616052 xref: ORDO:352479 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110296 name: autosomal recessive limb-girdle muscular dystrophy type 2M def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17044012] subset: DO_rare_slim synonym: "LGMD2M" EXACT OMO:0003012 [] synonym: "MDDGC4" EXACT OMO:0003012 [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4" EXACT [] xref: ICD10CM:G71.0 xref: MIM:611588 xref: ORDO:206554 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110297 name: autosomal recessive limb-girdle muscular dystrophy type 2K def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15792865] subset: DO_rare_slim synonym: "LGMD2K" EXACT OMO:0003012 [] synonym: "limb-girdle muscular dystrophy-intellectual disability syndrome" EXACT [] synonym: "MDDGC1" EXACT OMO:0003012 [] synonym: "muscular dystrophy limb-girdle type 2K" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1" EXACT [] xref: ICD10CM:G71.0 xref: MIM:609308 xref: ORDO:86812 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110298 name: autosomal recessive limb-girdle muscular dystrophy type 2N def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17878207] subset: DO_rare_slim synonym: "LGMD2N" EXACT OMO:0003012 [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related" EXACT [] xref: ICD10CM:G71.0 xref: MIM:613158 xref: ORDO:206559 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110299 name: autosomal recessive limb-girdle muscular dystrophy type 2I def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11592034] subset: DO_rare_slim synonym: "LGMD2I" EXACT OMO:0003012 [] synonym: "Limb-girdle muscular dystrophy due to FKRP deficiency" EXACT [] synonym: "MDDGC5" EXACT OMO:0003012 [] synonym: "muscular dystrophy limb-girdle type 2I" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related" EXACT [] xref: ICD10CM:G71.0 xref: MIM:607155 xref: ORDO:34515 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110300 name: obsolete autosomal dominant limb-girdle muscular dystrophy type 1A is_obsolete: true [Term] id: DOID:0110301 name: obsolete autosomal dominant limb-girdle muscular dystrophy type 1B is_obsolete: true [Term] id: DOID:0110302 name: obsolete autosomal dominant limb-girdle muscular dystrophy type 1C is_obsolete: true [Term] id: DOID:0110303 name: autosomal dominant limb-girdle muscular dystrophy type 1H def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in variation in the region 3p25.1-p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20068593] subset: DO_rare_slim synonym: "LGMD1H" EXACT OMO:0003012 [] synonym: "muscular dystrophy limb-girdle type 1H" EXACT [] xref: ICD10CM:G71.0 xref: MIM:613530 xref: ORDO:238755 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0110304 name: autosomal dominant limb-girdle muscular dystrophy type 2 def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23543484, url:https\://www.ncbi.nlm.nih.gov/pubmed/23667635] subset: DO_rare_slim synonym: "autosomal dominant limb-girdle muscular dystrophy type 1F" EXACT [] synonym: "LGMD1F" EXACT OMO:0003012 [] synonym: "muscular dystrophy limb-girdle type 1F" EXACT [] xref: ICD10CM:G71.0 xref: MIM:608423 xref: ORDO:55595 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0110305 name: autosomal dominant limb-girdle muscular dystrophy type 1 def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22334415] subset: DO_rare_slim synonym: "autosomal dominant limb-girdle muscular dystrophy type 1E" EXACT [] synonym: "LGMD1D" EXACT OMO:0003012 [] synonym: "muscular dystrophy limb-girdle type 1D" EXACT [] synonym: "muscular dystrophy limb-girdle type 1E" EXACT [] xref: ICD10CM:G71.0 xref: MIM:603511 xref: ORDO:34517 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0110306 name: autosomal dominant limb-girdle muscular dystrophy type 3 def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24647604] subset: DO_rare_slim synonym: "autosomal dominant limb-girdle muscular dystrophy type 1G" EXACT [] synonym: "LGMD1G" EXACT OMO:0003012 [] synonym: "muscular dystrophy limb-girdle type 1G" EXACT [] xref: ICD10CM:G71.0 xref: MIM:609115 xref: ORDO:55596 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0110307 name: hypertrophic cardiomyopathy 1 alt_id: DOID:0110325 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1975517] synonym: "cardiomyopathy, familial hypertrophic 1" EXACT [] synonym: "CMH1" EXACT OMO:0003012 [] synonym: "hypertrophic cardiomyopathy 19" EXACT [] xref: MIM:192600 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110308 name: hypertrophic cardiomyopathy 2 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8205619] synonym: "cardiomyopathy familial hypertrophic 2" EXACT [] synonym: "CMH2" EXACT OMO:0003012 [] xref: MIM:115195 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110309 name: hypertrophic cardiomyopathy 3 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8205619] synonym: "cardiomyopathy familial hypertrophic 3" EXACT [] synonym: "CMH3" EXACT OMO:0003012 [] xref: MIM:115196 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110310 name: hypertrophic cardiomyopathy 4 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7493025, url:https\://www.ncbi.nlm.nih.gov/pubmed/7493026] synonym: "cardiomyopathy, familial hypertrophic, 4" EXACT [] synonym: "CMH4" EXACT OMO:0003012 [] xref: MIM:115197 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110311 name: hypertrophic cardiomyopathy 21 def: "A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16651466] synonym: "cardiomyopathy familial hypertrophic 21" EXACT [] synonym: "CMH21" EXACT OMO:0003012 [] xref: MIM:614676 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110312 name: hypertrophic cardiomyopathy 6 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11586962] synonym: "cardiomyopathy, familial hypertrophic 6" EXACT [] synonym: "CMH6" EXACT OMO:0003012 [] xref: MIM:600858 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110313 name: hypertrophic cardiomyopathy 7 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9241277] synonym: "cardiomyopathy, familial hypertrophic 7" EXACT [] synonym: "CMH7" EXACT OMO:0003012 [] xref: MIM:613690 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110314 name: hypertrophic cardiomyopathy 8 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8673105] synonym: "cardiomyopathy hypertrophic mid-left ventricular chamber type 1" EXACT [] synonym: "cardiomyopathy, familial hypertrophic, 8" EXACT [] xref: MIM:608751 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110315 name: hypertrophic cardiomyopathy 9 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10462489] synonym: "cardiomyopathy, familial hypertrophic, 9" EXACT [] synonym: "CMH9" EXACT OMO:0003012 [] xref: MIM:613765 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110316 name: hypertrophic cardiomyopathy 10 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8673105] synonym: "cardiomyopathy, familial hypertrophic, 10" EXACT [] synonym: "CMH10" EXACT OMO:0003012 [] xref: MIM:608758 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110317 name: hypertrophic cardiomyopathy 11 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10330430] synonym: "cardiomyopathy familial hypertrophic 11" EXACT [] synonym: "CMH11" EXACT OMO:0003012 [] xref: MIM:612098 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110318 name: hypertrophic cardiomyopathy 12 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12642359] synonym: "cardiomyopathy familial hypertrophic 12" EXACT [] synonym: "CMH12" EXACT OMO:0003012 [] xref: MIM:612124 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110319 name: hypertrophic cardiomyopathy 13 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11385718] synonym: "cardiomyopathy familial hypertrophic 13" EXACT [] synonym: "CMH13" EXACT OMO:0003012 [] xref: MIM:613243 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110320 name: hypertrophic cardiomyopathy 14 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11815426] synonym: "cardiomyopathy familial hypertrophic 14" EXACT [] synonym: "CMH14" EXACT OMO:0003012 [] xref: MIM:613251 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110321 name: hypertrophic cardiomyopathy 15 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16712796] synonym: "cardiomyopathy familial hypertrophic 15" EXACT [] synonym: "CMH15" EXACT OMO:0003012 [] xref: MIM:613255 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110322 name: hypertrophic cardiomyopathy 16 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17347475] synonym: "cardiomyopathy familial hypertrophic 16" EXACT [] synonym: "CMH16" EXACT OMO:0003012 [] xref: MIM:613838 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110323 name: hypertrophic cardiomyopathy 17 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17509612] synonym: "cardiomyopathy familial hypertrophic 17" EXACT [] synonym: "CMH17" EXACT OMO:0003012 [] xref: MIM:613873 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110324 name: hypertrophic cardiomyopathy 18 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12705874] synonym: "cardiomyopathy familial hypertrophic 18" EXACT [] synonym: "CMH18" EXACT OMO:0003012 [] xref: MIM:613874 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110325 name: obsolete hypertrophic cardiomyopathy 19 is_obsolete: true [Term] id: DOID:0110326 name: hypertrophic cardiomyopathy 20 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20970104] synonym: "cardiomyopathy familial hypertrophic 20" EXACT [] synonym: "CMH20" EXACT OMO:0003012 [] xref: MIM:613876 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110327 name: hypertrophic cardiomyopathy 26 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25351925] synonym: "cardiomyopathy familial hypertrophic 26" EXACT [] synonym: "CMH26" EXACT OMO:0003012 [] xref: MIM:617047 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110328 name: hypertrophic cardiomyopathy 25 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15582318] synonym: "cardiomyopathy familial hypertrophic 25" EXACT [] synonym: "CMH25" EXACT OMO:0003012 [] xref: MIM:607487 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110329 name: Leber congenital amaurosis 6 def: "A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11283794] synonym: "LCA6" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C565327 xref: MIM:613826 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110330 name: Leber congenital amaurosis 13 def: "A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15258582] synonym: "LCA13" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C567197 xref: MIM:612712 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110331 name: Leber congenital amaurosis 3 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19268277] synonym: "LCA3" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C565814 xref: MIM:604232 is_a: DOID:0050177 ! monogenic disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110332 name: Leber congenital amaurosis 4 def: "A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10615133] synonym: "LCA4" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C565778 xref: MIM:604393 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110333 name: Leber congenital amaurosis 7 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9537410] synonym: "LCA7" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613829 is_a: DOID:0050177 ! monogenic disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110334 name: osteogenesis imperfecta type 1 def: "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2873381] subset: DO_rare_slim subset: NCIthesaurus synonym: "OI1" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type I" EXACT [] xref: GARD:8694 xref: MESH:D010013 xref: MIM:166200 xref: NCI:C99003 xref: ORDO:216796 xref: SNOMEDCT_US_2023_03_01:3508009 xref: UMLS_CUI:C0023931 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110335 name: osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures def: "An osteogenesis imperfecta found in a single South African family." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7241530] xref: ICD10CM:Q78.0 xref: MIM:166230 is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110336 name: osteogenesis imperfecta type 8 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17277775] subset: DO_rare_slim synonym: "OI8" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type VIII" EXACT [] xref: GARD:10152 xref: ICD10CM:Q78.0 xref: MIM:610915 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110337 name: osteogenesis imperfecta type 7 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17055431] subset: DO_rare_slim synonym: "OI7" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type VII" EXACT [] xref: GARD:8701 xref: ICD10CM:Q78.0 xref: MESH:C565200 xref: MIM:610682 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110338 name: osteogenesis imperfecta type 17 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26027498] synonym: "OI17" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type XVII" EXACT [] xref: ICD10CM:Q78.0 xref: MIM:616507 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110339 name: osteogenesis imperfecta type 3 def: "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2794057, url:https\://www.ncbi.nlm.nih.gov/pubmed/9099837] subset: DO_rare_slim synonym: "OI3" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type III" EXACT [] synonym: "progressively deforming osteogenesis imperfecta with normal sclera" EXACT [] xref: GARD:8695 xref: ICD10CM:Q78.0 xref: MIM:259420 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110340 name: osteogenesis imperfecta type 4 def: "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2745420, url:https\://www.ncbi.nlm.nih.gov/pubmed/2897363] subset: DO_rare_slim synonym: "OI4" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type IV" EXACT [] synonym: "osteogenesis imperfecta with normal sclera" EXACT [] xref: GARD:8696 xref: ICD10CM:Q78.0 xref: MIM:166220 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110341 name: osteogenesis imperfecta type 2 def: "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3722184, url:https\://www.ncbi.nlm.nih.gov/pubmed/6304100] subset: DO_rare_slim synonym: "OI2" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type II" EXACT [] synonym: "perinatal lethal osteogenesis imperfecta congenita" EXACT [] synonym: "Vrolik type of osteogenesis imperfecta" EXACT [] xref: GARD:10142 xref: ICD10CM:Q78.0 xref: MIM:166210 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110342 name: osteogenesis imperfecta type 13 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22052668] synonym: "OI13" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type XIII" EXACT [] xref: ICD10CM:Q78.0 xref: MIM:614856 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110343 name: osteogenesis imperfecta type 14 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23054245] synonym: "OI14" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type XIV" EXACT [] xref: ICD10CM:Q78.0 xref: MIM:615066 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110344 name: osteogenesis imperfecta type 5 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22863190] subset: DO_rare_slim synonym: "OI5" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type V" EXACT [] xref: GARD:8699 xref: ICD10CM:Q78.0 xref: MIM:610967 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110345 name: osteogenesis imperfecta type 16 def: "An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24079343] synonym: "chromosome 11p11.2 deletion syndrome 91.3-KB" EXACT [] synonym: "OI16" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type XVI" EXACT [] xref: ICD10CM:Q78.0 xref: MIM:616229 is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110346 name: osteogenesis imperfecta type 10 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20188343] synonym: "OI10" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type X" EXACT [] xref: ICD10CM:Q78.0 xref: MIM:613848 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110347 name: osteogenesis imperfecta type 15 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23499309] synonym: "OI15" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type XV" EXACT [] xref: ICD10CM:Q78.0 xref: MIM:615220 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110348 name: osteogenesis imperfecta type 12 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20579626] synonym: "OI12" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type XII" EXACT [] xref: ICD10CM:Q78.0 xref: MIM:613849 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110349 name: osteogenesis imperfecta type 9 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19781681] subset: DO_rare_slim synonym: "OI9" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type IX" EXACT [] xref: GARD:10619 xref: ICD10CM:Q78.0 xref: MIM:259440 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110350 name: osteogenesis imperfecta type 6 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21353196] subset: DO_rare_slim synonym: "OI6" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type VI" EXACT [] xref: GARD:8700 xref: ICD10CM:Q78.0 xref: MIM:613982 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110351 name: osteogenesis imperfecta type 11 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20362275] synonym: "OI11" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type XI" EXACT [] xref: ICD10CM:Q78.0 xref: MIM:610968 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110352 name: retinitis pigmentosa 59 def: "A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21295283] synonym: "RP59" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613861 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110353 name: retinitis pigmentosa 20 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9326941] synonym: "RP20" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C566718 xref: MIM:613794 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110354 name: retinitis pigmentosa 19 def: "A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9425888] synonym: "RP19" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C566637 xref: MIM:601718 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110355 name: retinitis pigmentosa 32 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16189710] synonym: "RP32" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C563689 xref: MIM:609913 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110356 name: retinitis pigmentosa 18 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11773002] synonym: "RP18" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C563320 xref: MIM:601414 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110357 name: retinitis pigmentosa 35 def: "A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16199541] synonym: "RP35" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C565206 xref: MIM:610282 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110358 name: retinitis pigmentosa 12 def: "A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10508521] synonym: "RP12" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C563999 xref: MIM:600105 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110359 name: retinitis pigmentosa 67 def: "A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24043777] synonym: "RP67" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:615565 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110360 name: retinitis pigmentosa 39 def: "A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12427073] synonym: "RP39" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613809 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110361 name: retinitis pigmentosa 75 def: "A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26720455] synonym: "RP75" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:617023 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110362 name: retinitis pigmentosa 58 def: "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20227676] synonym: "RP58" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613617 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110363 name: retinitis pigmentosa 71 def: "A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25168386] synonym: "RP71" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:616394 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110364 name: retinitis pigmentosa 54 def: "A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20398886] synonym: "RP54" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613428 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110365 name: retinitis pigmentosa 28 def: "A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20705278] synonym: "RP28" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:606068 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110366 name: retinitis pigmentosa 33 def: "A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19878916] synonym: "RP33" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C563676 xref: MIM:610359 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110367 name: retinitis pigmentosa 38 def: "A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11062461] synonym: "RP38" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613862 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110368 name: retinitis pigmentosa 26 def: "A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14681825] synonym: "RP26" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C564249 xref: MIM:608380 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110369 name: retinitis pigmentosa 47 def: "A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9565049] synonym: "RP47" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613758 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110370 name: retinitis pigmentosa 55 def: "A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19956407] synonym: "RP55" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613575 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110371 name: retinitis pigmentosa 56 def: "A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20673862] synonym: "RP56" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613581 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110372 name: retinitis pigmentosa 4 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2137202] synonym: "RP4" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C566706 xref: MIM:613731 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110373 name: retinitis pigmentosa 61 def: "A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21310491] synonym: "RP61" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:614180 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110374 name: retinitis pigmentosa 68 def: "A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24670872] synonym: "RP68" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:615725 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110375 name: retinitis pigmentosa 40 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8394174] synonym: "RP40" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613801 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110376 name: retinitis pigmentosa 41 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10587575] synonym: "RP41" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C567422 xref: MIM:612095 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110377 name: retinitis pigmentosa 49 def: "A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7479749] synonym: "RP49" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613756 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110378 name: retinitis pigmentosa 29 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11381043] synonym: "RP29" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C567403 xref: MIM:612165 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110379 name: retinitis pigmentosa 43 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7493036] synonym: "RP43" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613810 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110380 name: retinitis pigmentosa 62 def: "A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21825139] synonym: "RP62" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:614181 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110381 name: retinitis pigmentosa 14 def: "A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9462751] synonym: "RP14" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C563992 xref: MIM:600132 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110382 name: retinitis pigmentosa 48 def: "A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15452722] synonym: "RP48" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613827 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110383 name: retinitis pigmentosa 7 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1749427] synonym: "RP7" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C564284 xref: MIM:608133 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080578 ! digenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110384 name: retinitis pigmentosa 25 def: "A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18836446] synonym: "RP25" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C566425 xref: MIM:602772 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110385 name: retinitis pigmentosa 63 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22083234] synonym: "RP63" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:614494 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110386 name: retinitis pigmentosa 42 def: "A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19520207] synonym: "RP42" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C567854 xref: MIM:612943 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110387 name: retinitis pigmentosa 9 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12032732] synonym: "RP9" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C566716 xref: MIM:180104 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110388 name: retinitis pigmentosa 10 def: "A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11875050] synonym: "RP10" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C566715 xref: MIM:180105 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110389 name: retinitis pigmentosa 73 def: "A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25859010] synonym: "RP73" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:616544 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110390 name: retinitis pigmentosa 1 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10391211] synonym: "RP1" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C538365 xref: MIM:180100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110391 name: retinitis pigmentosa 31 def: "A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17924349] synonym: "RP31" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C563685 xref: MIM:609923 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110392 name: retinitis pigmentosa 70 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24419317] synonym: "RP70" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:615922 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110393 name: retinitis pigmentosa 66 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19074801] synonym: "RP66" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:615233 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110394 name: retinitis pigmentosa 44 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10581022] synonym: "RP44" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613769 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110395 name: retinitis pigmentosa 72 def: "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25882705] synonym: "RP72" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:616469 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110396 name: retinitis pigmentosa 50 def: "A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19853238] synonym: "RP50" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613194 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110397 name: retinitis pigmentosa 27 def: "A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10192380] synonym: "RP27" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C563526 xref: MIM:613750 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110398 name: retinitis pigmentosa 51 def: "A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20451172] synonym: "RP51" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613464 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110399 name: retinitis pigmentosa 37 def: "A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17564971] synonym: "RP37" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C567005 xref: MIM:611131 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110400 name: retinitis pigmentosa 22 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9545639] synonym: "RP22" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:602594 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110401 name: retinitis pigmentosa 74 def: "A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25541840] synonym: "RP74" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:616562 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110402 name: retinitis pigmentosa 45 def: "A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11379879] synonym: "RP45" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613767 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110403 name: retinitis pigmentosa 13 def: "A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11468273] synonym: "RP13" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C564008 xref: MIM:600059 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110404 name: retinitis pigmentosa 17 def: "A retinitis pigmentosa characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression that has_material_basis_in duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1." [url:https\://pubmed.ncbi.nlm.nih.gov/33022222/] synonym: "RP17" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C563437 xref: MIM:600852 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110405 name: retinitis pigmentosa 36 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16938425] synonym: "RP36" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C566431 xref: MIM:610599 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110406 name: retinitis pigmentosa 30 def: "A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14609921] synonym: "RP30" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C564310 xref: MIM:607921 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110407 name: retinitis pigmentosa 57 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20655036] synonym: "RP57" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613582 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110408 name: retinitis pigmentosa 11 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11545739] synonym: "RP11" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C563991 xref: MIM:600138 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110409 name: retinitis pigmentosa 46 def: "A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B gene on chromosome 20p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18806796] synonym: "RP46" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C567249 xref: MIM:612572 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110410 name: retinitis pigmentosa 69 def: "A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24680887] synonym: "RP69" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:615780 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110411 name: retinitis pigmentosa 60 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21549338] synonym: "RP60" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:613983 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110412 name: retinitis pigmentosa 23 def: "A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22619378] synonym: "RP23" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:300424 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110413 name: retinitis pigmentosa 6 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2300556] synonym: "RP6" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C564065 xref: MIM:312612 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110414 name: retinitis pigmentosa 3 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8673101] synonym: "RP3" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C564520 xref: MIM:300029 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110415 name: retinitis pigmentosa 2 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9697692] synonym: "RP2" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C567523 xref: MIM:312600 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110416 name: retinitis pigmentosa 24 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10690843] synonym: "RP24" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:300155 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110417 name: retinitis pigmentosa 34 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16740911] synonym: "RP34" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MESH:C564475 xref: MIM:300605 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110418 name: retinitis pigmentosa Y-linked def: "A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7493160] xref: ICD10CM:H35.5 xref: MIM:400004 is_a: DOID:0050738 ! Y-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110419 name: retinitis pigmentosa with or without situs inversus def: "A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23849777] xref: ICD10CM:H35.5 xref: MIM:615434 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110420 name: dominant pericentral pigmentary retinopathy def: "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3618160] xref: ICD10CM:H35.5 xref: MIM:180210 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110421 name: late-adult onset retinitis pigmentosa def: "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1424244] synonym: "senile retinitis pigmentosa" EXACT [] xref: ICD10CM:H35.5 xref: MIM:268025 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110422 name: autosomal recessive pericentral pigmentary retinopathy def: "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3189470] xref: ICD10CM:H35.5 xref: MIM:268060 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110423 name: dilated cardiomyopathy 1C def: "A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14662268] synonym: "CMDC1" EXACT OMO:0003012 [] synonym: "dilated cardiomyopathy 1C with or without left ventricular noncompaction" EXACT [] xref: ICD10CM:I42.0 xref: MIM:601493 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110424 name: dilated cardiomyopathy 1CC def: "A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19881492] synonym: "CMD1CC" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:613122 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110425 name: dilated cardiomyopathy 1A def: "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10580070] subset: DO_rare_slim synonym: "CDCD1" EXACT OMO:0003012 [] synonym: "dilated cardiomyopathy with conduction defect 1" EXACT [] synonym: "familial dilated cardiomyopathy with conduction defect due to LMNA mutation" EXACT [] xref: MIM:115200 xref: ORDO:300751 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110426 name: dilated cardiomyopathy 1D def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11106718] synonym: "CMD1D" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:601494 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110427 name: dilated cardiomyopathy 1V def: "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17186461] synonym: "CMD1V" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:613697 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110428 name: dilated cardiomyopathy 1AA def: "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14567970] synonym: "CMD1AA" EXACT OMO:0003012 [] synonym: "dilated cardiomyopathy 1AA with or without left ventricular noncompaction" EXACT [] xref: ICD10CM:I42.0 xref: MIM:612158 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110429 name: dilated cardiomyopathy 1H def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10486326] synonym: "dilated cardiomyopathy with conduction defect" EXACT [] xref: ICD10CM:I42.0 xref: MIM:604288 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110430 name: dilated cardiomyopathy 1G def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11788824] synonym: "CMD1G" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:604145 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110431 name: dilated cardiomyopathy 1I def: "A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10430757] synonym: "CMD1I" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:604765 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110432 name: dilated cardiomyopathy 1NN def: "A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24777450] synonym: "CMD1NN" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:615916 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110433 name: dilated cardiomyopathy 1E def: "A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15466643] synonym: "CDCD2" EXACT OMO:0003012 [] synonym: "CMD1E" EXACT OMO:0003012 [] synonym: "dilated cardiomyopathy with conduction defect 2" EXACT [] synonym: "dilated cardiomyopathy with conduction disorder and arrhythmia" EXACT [] xref: ICD10CM:I42.0 xref: MIM:601154 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110434 name: dilated cardiomyopathy 1Z def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15542288] synonym: "CMD1Z" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:611879 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110435 name: dilated cardiomyopathy 1GG def: "A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20551992] synonym: "CMD1GG" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:613642 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110436 name: dilated cardiomyopathy 1L def: "A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10974018] synonym: "CMD1L" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:606685 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110437 name: dilated cardiomyopathy 1K def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11085912] synonym: "CMD1K" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:605582 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110438 name: dilated cardiomyopathy 1JJ def: "A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17646580] synonym: "CMD1JJ" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:615235 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110439 name: dilated cardiomyopathy 1P def: "A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12610310] synonym: "CMD1P" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:609909 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110440 name: dilated cardiomyopathy 1J def: "A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15735644] subset: DO_rare_slim synonym: "autosomal dominant dilated cardiomyopathy with sensorineural hearing loss" EXACT [] synonym: "CMD1J" EXACT OMO:0003012 [] synonym: "neurosensory deafness with dilated cardiomyopathy" EXACT [] synonym: "neurosensory hearing loss with dilated cardiomyopathy" EXACT [] synonym: "sensorineural deafness with dilated cardiomyopathy" EXACT [] synonym: "sensorineural hearing loss with dilated cardiomyopathy" EXACT [] xref: MIM:605362 xref: ORDO:217622 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110441 name: dilated cardiomyopathy 2B def: "A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21965549] synonym: "CMD2B" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:614672 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110442 name: dilated cardiomyopathy 1Q def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16228230] synonym: "CMD1Q" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:609915 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110443 name: dilated cardiomyopathy 1B def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7573045] xref: ICD10CM:I42.0 xref: MIM:600884 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110444 name: dilated cardiomyopathy 1X def: "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17036286] synonym: "CMD1X" EXACT OMO:0003012 [] synonym: "dilated cardiomyopathy with mild or no proximal muscle weakness" EXACT [] xref: ICD10CM:I42.0 xref: MIM:611615 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110445 name: dilated cardiomyopathy 1KK def: "A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18006477] synonym: "CMD1KK" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:615248 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110446 name: dilated cardiomyopathy 1W def: "A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11815424] synonym: "CMD1W" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:611407 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110447 name: dilated cardiomyopathy 1DD def: "A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19712804] synonym: "CMD1DD" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:613172 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110448 name: dilated cardiomyopathy 1HH def: "A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21353195] synonym: "CMD1HH" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:613881 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110449 name: dilated cardiomyopathy 1M def: "A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12507422, url:https\://www.ncbi.nlm.nih.gov/pubmed/14567970] synonym: "CMD1M" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:607482 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110450 name: dilated cardiomyopathy 1II def: "A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16483541] synonym: "CMD1II" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:615184 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110451 name: dilated cardiomyopathy 1O def: "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15034580] synonym: "CMD1O" EXACT OMO:0003012 [] synonym: "dilated cardiomyopathy with ventricular tachycardia" EXACT [] xref: ICD10CM:I42.0 xref: MIM:608569 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110452 name: dilated cardiomyopathy 1T def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16247757] synonym: "CMD1T" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110453 name: dilated cardiomyopathy 1EE def: "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15998695] synonym: "CMD1EE" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:613252 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110454 name: dilated cardiomyopathy 1S def: "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11106718] synonym: "CMD1S" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:613426 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110455 name: dilated cardiomyopathy 1U def: "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17186461] synonym: "CMD1U" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:613694 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110456 name: dilated cardiomyopathy 1R def: "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17611253] synonym: "CMD1R" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:613424 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110457 name: dilated cardiomyopathy 1Y def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11273725] synonym: "CMD1Y" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:611878 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110458 name: dilated cardiomyopathy 1BB def: "A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18678517] synonym: "CMD1BB" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:612877 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110459 name: dilated cardiomyopathy 1FF def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19590045] synonym: "CMD1FF" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:613286 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110460 name: dilated cardiomyopathy 2A def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15070570] synonym: "CMD2A" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MIM:611880 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110461 name: X-linked dilated cardiomyopathy alt_id: DOID:0060561 alt_id: DOID:0081164 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the DMD gene encoding dystrophin on chromosome Xp21, without skeletal muscle weakness or wasting." [url:https\://ghr.nlm.nih.gov/condition/x-linked-dilated-cardiomyopathy#synonyms, url:https\://pubmed.ncbi.nlm.nih.gov/29901616/, url:https\://pubmed.ncbi.nlm.nih.gov/3574369/, url:https\://pubmed.ncbi.nlm.nih.gov/8361506/] synonym: "CMD3B" EXACT OMO:0003012 [] synonym: "dilated cardiomyopathy 3B" EXACT [] synonym: "DMD-related dilated cardiomyopathy" EXACT [] synonym: "XLCM" EXACT OMO:0003012 [] xref: ICD10CM:I42.0 xref: MESH:C580047 xref: MIM:302045 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110462 name: autosomal recessive nonsyndromic deafness 101 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24619944] synonym: "autosomal recessive deafness 101" EXACT [] synonym: "DFNB101" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:615837 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110463 name: autosomal recessive nonsyndromic deafness 102 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24741995] synonym: "autosomal recessive deafness 102" EXACT [] synonym: "DFNB102" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:615974 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110464 name: autosomal recessive nonsyndromic deafness 103 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24781754] synonym: "autosomal recessive deafness 103" EXACT [] synonym: "DFNB103" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:616042 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110465 name: autosomal recessive nonsyndromic deafness 104 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24958875] synonym: "autosomal recessive deafness 104" EXACT [] synonym: "DFNB104" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:616515 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110466 name: obsolete autosomal recessive nonsyndromic deafness 105 is_obsolete: true [Term] id: DOID:0110467 name: autosomal recessive nonsyndromic deafness 12 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11090341] synonym: "autosomal recessive deafness 12" EXACT [] synonym: "DFNB12" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:601386 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110468 name: autosomal recessive nonsyndromic deafness 13 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9781028] synonym: "autosomal recessive deafness 13" EXACT [] synonym: "DFNB13" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:603098 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110469 name: autosomal recessive nonsyndromic deafness 14 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9887371] synonym: "autosomal recessive deafness 14" EXACT [] synonym: "DFNB14" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:603678 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110470 name: autosomal recessive nonsyndromic deafness 15 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21326233] synonym: "autosomal recessive deafness 15" EXACT [] synonym: "autosomal recessive deafness 72" EXACT [] synonym: "autosomal recessive deafness 95" EXACT [] synonym: "DFNB15" EXACT OMO:0003012 [] synonym: "DFNB72" EXACT OMO:0003012 [] synonym: "DFNB95" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:601869 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110471 name: autosomal recessive nonsyndromic deafness 16 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11687802] synonym: "autosomal recessive deafness 16" EXACT [] synonym: "DFNB16" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:603720 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110472 name: autosomal recessive nonsyndromic deafness 17 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15293785] synonym: "autosomal recessive deafness 17" EXACT [] synonym: "DFNB17" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:603010 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110473 name: autosomal recessive nonsyndromic deafness 18A def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12136232] synonym: "autosomal recessive deafness 18A" EXACT [] synonym: "DFNB18A" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:602092 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110474 name: autosomal recessive nonsyndromic deafness 18B def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23122587] synonym: "autosomal recessive deafness 18B" EXACT [] synonym: "DFNB18B" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:614945 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110475 name: autosomal recessive nonsyndromic deafness 1A def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9139825] synonym: "autosomal recessive deafness 1A" EXACT [] synonym: "DFNB1A" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:220290 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0110476 name: autosomal recessive nonsyndromic deafness 1B def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11807148] synonym: "autosomal recessive deafness 1B" EXACT [] synonym: "DFNB1B" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:612645 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110477 name: autosomal recessive nonsyndromic deafness 2 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9171833] synonym: "autosomal recessive deafness 2" EXACT [] synonym: "DFNB2" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:600060 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110478 name: autosomal recessive nonsyndromic deafness 20 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10196710] synonym: "autosomal recessive deafness 20" EXACT [] synonym: "DFNB20" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:604060 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110479 name: autosomal recessive nonsyndromic deafness 21 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9949200] synonym: "autosomal recessive deafness 21" EXACT [] synonym: "DFNB21" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:603629 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110480 name: autosomal recessive nonsyndromic deafness 22 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11972037] synonym: "autosomal recessive deafness 22" EXACT [] synonym: "DFNB22" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:607039 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110481 name: autosomal recessive nonsyndromic deafness 23 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14570705] synonym: "autosomal recessive deafness 23" EXACT [] synonym: "DFNB23" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:609533 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110482 name: autosomal recessive nonsyndromic deafness 24 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17226784] synonym: "autosomal recessive deafness 24" EXACT [] synonym: "DFNB24" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:611022 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110483 name: autosomal recessive nonsyndromic deafness 25 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20137778] synonym: "autosomal recessive deafness 25" EXACT [] synonym: "DFNB25" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:613285 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110484 name: autosomal recessive nonsyndromic deafness 26 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11101839] synonym: "autosomal recessive deafness 26" EXACT [] synonym: "DFNB26" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:605428 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110485 name: autosomal recessive nonsyndromic deafness 27 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11175289] synonym: "autosomal recessive deafness 27" EXACT [] synonym: "DFNB27" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:605818 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110486 name: autosomal recessive nonsyndromic deafness 28 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16385458] synonym: "autosomal recessive deafness 28" EXACT [] synonym: "DFNB28" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:609823 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110487 name: autosomal recessive nonsyndromic deafness 29 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11163249] synonym: "autosomal recessive deafness 29" EXACT [] synonym: "DFNB29" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:614035 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110488 name: autosomal recessive nonsyndromic deafness 3 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17851452] synonym: "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3" EXACT [] synonym: "DFNB3" EXACT OMO:0003012 [] synonym: "NRSD3" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:600316 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110489 name: autosomal recessive nonsyndromic deafness 30 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12032315] subset: DO_rare_slim synonym: "autosomal recessive deafness 30" EXACT [] synonym: "DFNB30" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:607101 xref: ORDO:90636 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110490 name: autosomal recessive nonsyndromic deafness 31 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12833159] synonym: "autosomal recessive deafness 31" EXACT [] synonym: "DFNB31" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:607084 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110491 name: autosomal recessive nonsyndromic deafness 32 alt_id: DOID:0110466 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/27259055/, url:https\://www.ncbi.nlm.nih.gov/pubmed/12634867] synonym: "autosomal recessive deafness 105" EXACT [] synonym: "autosomal recessive deafness 32" EXACT [] synonym: "DFNB32" EXACT OMO:0003012 [] synonym: "hearing impairment infertile male syndrome" EXACT [] synonym: "HIIMS" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:608653 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110492 name: autosomal recessive nonsyndromic deafness 33 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12080392] synonym: "autosomal recessive deafness 33" EXACT [] synonym: "DFNB33" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:607239 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110493 name: autosomal recessive nonsyndromic deafness 35 def: "An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18179891] synonym: "autosomal recessive deafness 35" EXACT [] synonym: "DFNB35" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:608565 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110494 name: autosomal recessive nonsyndromic deafness 36 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15286153] synonym: "autosomal recessive deafness 36" EXACT [] synonym: "DFNB36" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:609006 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110495 name: autosomal recessive nonsyndromic deafness 37 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12687499] synonym: "autosomal recessive deafness 37" EXACT [] synonym: "DFNB37" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:607821 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110496 name: autosomal recessive nonsyndromic deafness 38 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12890929] synonym: "autosomal recessive deafness 38" EXACT [] synonym: "DFNB38" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:608219 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110497 name: autosomal recessive nonsyndromic deafness 39 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19576567] synonym: "autosomal recessive deafness 39" EXACT [] synonym: "DFNB39" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:608265 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110498 name: autosomal recessive nonsyndromic deafness 4 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9500541] synonym: "autosomal recessive deafness 4 with enlarged vestibular aqueduct" EXACT [] synonym: "DFNB4" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:600791 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110499 name: autosomal recessive nonsyndromic deafness 40 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14512974] synonym: "autosomal recessive deafness 40" EXACT [] synonym: "DFNB40" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:608264 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110500 name: autosomal recessive nonsyndromic deafness 42 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21255762] synonym: "autosomal recessive deafness 42" EXACT [] synonym: "DFNB42" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:609646 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110501 name: autosomal recessive nonsyndromic deafness 44 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24482543] synonym: "autosomal recessive deafness 44" EXACT [] synonym: "DFNB44" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:610154 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110502 name: autosomal recessive nonsyndromic deafness 45 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18325041] synonym: "autosomal recessive deafness 45" EXACT [] synonym: "DFNB45" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:612433 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110503 name: autosomal recessive nonsyndromic deafness 46 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15637723] synonym: "autosomal recessive deafness 46" EXACT [] synonym: "DFNB46" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:609647 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110504 name: autosomal recessive nonsyndromic deafness 47 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16261342] synonym: "autosomal recessive deafness 47" EXACT [] synonym: "DFNB47" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:609946 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110505 name: autosomal recessive nonsyndromic deafness 48 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23023331] synonym: "autosomal recessive deafness 48" EXACT [] synonym: "DFNB48" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:609439 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110506 name: autosomal recessive nonsyndromic deafness 49 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18084694] synonym: "autosomal recessive deafness 49" EXACT [] synonym: "DFNB49" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:610153 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110507 name: autosomal recessive nonsyndromic deafness 5 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8944017] synonym: "autosomal recessive deafness 5" EXACT [] synonym: "DFNB5" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:600792 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110508 name: autosomal recessive nonsyndromic deafness 51 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16158433] synonym: "autosomal recessive deafness 51" EXACT [] synonym: "DFNB51" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:609941 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110509 name: autosomal recessive nonsyndromic deafness 53 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16033917] synonym: "autosomal recessive deafness 53" EXACT [] synonym: "DFNB53" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:609706 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110510 name: autosomal recessive nonsyndromic deafness 55 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16098016] subset: DO_rare_slim synonym: "autosomal recessive deafness 55" EXACT [] synonym: "DFNB55" EXACT OMO:0003012 [] xref: GARD:9919 xref: ICD10CM:H90.3 xref: MIM:609952 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110511 name: autosomal recessive nonsyndromic deafness 59 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17301963] synonym: "autosomal recessive deafness 59" EXACT [] synonym: "DFNB59" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:610220 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110512 name: autosomal recessive nonsyndromic deafness 6 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12145746] synonym: "autosomal recessive deafness 6" EXACT [] synonym: "DFNB6" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:600971 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110513 name: autosomal recessive nonsyndromic deafness 61 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12719379] synonym: "autosomal recessive deafness 61" EXACT [] synonym: "DFNB61" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:613865 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110514 name: autosomal recessive nonsyndromic deafness 62 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16650082] synonym: "autosomal recessive deafness 62" EXACT [] synonym: "DFNB62" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:610143 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110515 name: autosomal recessive nonsyndromic deafness 63 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18953341] synonym: "autosomal recessive deafness 63" EXACT [] synonym: "DFNB63" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:611451 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110516 name: autosomal recessive nonsyndromic deafness 65 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16596430] synonym: "autosomal recessive deafness 65" EXACT [] synonym: "DFNB65" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:610248 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110517 name: autosomal recessive nonsyndromic deafness 66 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25601850] synonym: "autosomal recessive deafness 66" EXACT [] synonym: "DFNB66" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:610212 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110518 name: autosomal recessive nonsyndromic deafness 67 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16459341] synonym: "autosomal recessive deafness 67" EXACT [] synonym: "DFNB67" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:610265 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110519 name: autosomal recessive nonsyndromic deafness 68 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26805784] synonym: "autosomal recessive deafness 68" EXACT [] synonym: "DFNB68" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:610419 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110520 name: autosomal recessive nonsyndromic deafness 7 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11850618] synonym: "autosomal recessive deafness 7" EXACT [] synonym: "DFNB11" EXACT OMO:0003012 [] synonym: "DFNB7" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:600974 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110521 name: autosomal recessive nonsyndromic deafness 70 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23084290] synonym: "autosomal recessive deafness 70" EXACT [] synonym: "DFNB70" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:614934 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110522 name: autosomal recessive nonsyndromic deafness 71 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19229252] synonym: "autosomal recessive deafness 71" EXACT [] synonym: "DFNB71" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:612789 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110523 name: autosomal recessive nonsyndromic deafness 74 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21185009] synonym: "autosomal recessive deafness 74" EXACT [] synonym: "DFNB74" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:613718 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110524 name: autosomal recessive nonsyndromic deafness 76 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23348741] synonym: "autosomal recessive deafness 76" EXACT [] synonym: "DFNB76" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:615540 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110525 name: autosomal recessive nonsyndromic deafness 77 def: "An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19732867] synonym: "autosomal recessive deafness 77" EXACT [] synonym: "DFNB77" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:613079 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110526 name: autosomal recessive nonsyndromic deafness 79 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20170899] synonym: "autosomal recessive deafness 79" EXACT [] synonym: "DFNB79" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:613307 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110527 name: autosomal recessive nonsyndromic deafness 8 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11137999] synonym: "autosomal recessive deafness 10" EXACT [] synonym: "autosomal recessive deafness 8" EXACT [] synonym: "childhood-onset neurosensory autosomal recessive deafness 8" EXACT [] synonym: "DFNB10" EXACT OMO:0003012 [] synonym: "DFNB8" EXACT OMO:0003012 [] synonym: "neurosensory nonsyndromic recessive deafness 8" EXACT [] synonym: "NRSD8" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:601072 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110528 name: autosomal recessive nonsyndromic deafness 83 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2." [url:https\://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss, url:https\://www.omim.org/entry/613685] synonym: "autosomal recessive deafness 83" EXACT [] synonym: "DFNB83" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:613685 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110529 name: autosomal recessive nonsyndromic deafness 84A def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20346435] synonym: "autosomal recessive deafness 84A" EXACT [] synonym: "autosomal recessive deafness 84A with vestibular dysfunction" EXACT [] synonym: "DFNB84A" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:613391 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110530 name: autosomal recessive nonsyndromic deafness 84B def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23122586] synonym: "autosomal recessive deafness 84B" EXACT [] synonym: "DFNB84B" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:614944 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110531 name: autosomal recessive nonsyndromic deafness 85 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19888295] synonym: "autosomal recessive deafness 85" EXACT [] synonym: "DFNB85" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:613392 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110532 name: autosomal recessive nonsyndromic deafness 86 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24387994] synonym: "autosomal recessive deafness 86" EXACT [] synonym: "DFNB86" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:614617 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110533 name: autosomal recessive nonsyndromic deafness 88 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24039609] synonym: "autosomal recessive deafness 88" EXACT [] synonym: "DFNB88" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:615429 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110534 name: autosomal recessive nonsyndromic deafness 89 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23768514] synonym: "autosomal recessive deafness 89" EXACT [] synonym: "DFNB89" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:613916 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110535 name: autosomal recessive nonsyndromic deafness 9 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10192385] synonym: "autosomal recessive deafness 9" EXACT [] synonym: "DFNB9" EXACT OMO:0003012 [] synonym: "neurosensory nonsyndromic recessive deafness 9" EXACT [] synonym: "NRSD9" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:601071 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110536 name: autosomal recessive nonsyndromic deafness 91 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20451170] synonym: "autosomal recessive deafness 91" EXACT [] synonym: "DFNB91" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:613453 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110537 name: autosomal recessive nonsyndromic deafness 93 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22981119] synonym: "autosomal recessive deafness 93" EXACT [] synonym: "DFNB93" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:614899 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110538 name: autosomal recessive nonsyndromic deafness 96 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21937999] synonym: "autosomal recessive deafness 96" EXACT [] synonym: "DFNB96" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:614414 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110539 name: autosomal recessive nonsyndromic deafness 97 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25941349] synonym: "autosomal recessive deafness 97" EXACT [] synonym: "DFNB97" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:616705 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110540 name: autosomal recessive nonsyndromic deafness 98 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22678063] synonym: "autosomal recessive deafness 98" EXACT [] synonym: "DFNB98" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:614861 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110541 name: autosomal dominant nonsyndromic deafness 1 def: "An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9360932] synonym: "autosomal dominant deafness 1" EXACT [] synonym: "autosomal dominant deafness 1, with or without thrombocytopenia" EXACT [] synonym: "DFNA1" EXACT OMO:0003012 [] synonym: "hereditary low frequency hearing loss 1" EXACT [] synonym: "Konigsmark syndrome" EXACT [] synonym: "LFHL1" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:124900 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110542 name: autosomal dominant nonsyndromic deafness 10 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11159937] synonym: "autosomal dominant deafness 10" EXACT [] synonym: "DFNA10" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:601316 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110543 name: autosomal dominant nonsyndromic deafness 11 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9354784] synonym: "autosomal dominant deafness 11" EXACT [] synonym: "DFNA11" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:601317 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110544 name: autosomal dominant nonsyndromic deafness 12 def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9590290] synonym: "autosomal dominant deafness 12" EXACT [] synonym: "autosomal dominant deafness 8" EXACT [] synonym: "DFNA12" EXACT OMO:0003012 [] synonym: "DFNA8" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:601543 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110545 name: autosomal dominant nonsyndromic deafness 13 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10581026] synonym: "autosomal dominant deafness 13" EXACT [] synonym: "DFNA13" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:601868 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110546 name: autosomal dominant nonsyndromic deafness 15 alt_id: DOID:0110578 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32." [url:https\://pubmed.ncbi.nlm.nih.gov/27535032/, url:https\://www.ncbi.nlm.nih.gov/pubmed/9506947] synonym: "autosomal dominant deafness 15" EXACT [] synonym: "autosomal dominant deafness 52" EXACT [] synonym: "autosomal dominant nonsyndromic deafness 52" EXACT [] synonym: "DFNA15" EXACT OMO:0003012 [] synonym: "DFNA52" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:602459 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110547 name: autosomal dominant nonsyndromic deafness 16 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10364526] synonym: "autosomal dominant deafness 16" EXACT [] synonym: "DFNA16" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:603964 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110548 name: autosomal dominant nonsyndromic deafness 17 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11023810] synonym: "autosomal dominant deafness 17" EXACT [] synonym: "DFNA17" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:603622 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110549 name: autosomal dominant nonsyndromic deafness 18 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11313754] synonym: "autosomal dominant deafness 18" EXACT [] synonym: "DFNA18" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:606012 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110550 name: autosomal dominant nonsyndromic deafness 20 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/13680526] synonym: "autosomal dominant deafness 20" EXACT [] synonym: "DFNA20" EXACT OMO:0003012 [] synonym: "DFNA26" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:604717 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110551 name: autosomal dominant nonsyndromic deafness 21 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10764236] synonym: "autosomal dominant deafness 21" EXACT [] synonym: "DFNA21" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:607017 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110552 name: autosomal dominant nonsyndromic deafness 22 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11468689] synonym: "autosomal dominant deafness 22" EXACT [] synonym: "DFNA22" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:606346 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110553 name: autosomal dominant nonsyndromic deafness 23 def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15141091] synonym: "autosomal dominant deafness 23" EXACT [] synonym: "DFNA23" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:605192 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110554 name: autosomal dominant nonsyndromic deafness 24 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10739769] subset: DO_rare_slim synonym: "autosomal dominant deafness 24" EXACT [] synonym: "DFNA24" EXACT OMO:0003012 [] xref: GARD:9166 xref: ICD10CM:H90.3 xref: MIM:606282 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110555 name: autosomal dominant nonsyndromic deafness 25 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18674745] synonym: "autosomal dominant deafness 25" EXACT [] synonym: "DFNA25" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:605583 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110556 name: autosomal dominant nonsyndromic deafness 27 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18279434] synonym: "autosomal dominant deafness 27" EXACT [] synonym: "DFNA27" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:612431 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110557 name: autosomal dominant nonsyndromic deafness 28 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12393799] synonym: "autosomal dominant deafness 28" EXACT [] synonym: "DFNA28" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:608641 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110558 name: autosomal dominant nonsyndromic deafness 2A def: "An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10025409] synonym: "autosomal dominant deafness 2A" EXACT [] synonym: "DFNA2A" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:600101 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110559 name: autosomal dominant nonsyndromic deafness 2B def: "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9843210] synonym: "autosomal dominant deafness 2B" EXACT [] synonym: "DFNA2B" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:612644 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110560 name: autosomal dominant nonsyndromic deafness 30 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11571554] synonym: "autosomal dominant deafness 30" EXACT [] synonym: "DFNA30" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:606451 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110561 name: autosomal dominant nonsyndromic deafness 31 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11559344] synonym: "autosomal dominant deafness 31" EXACT [] synonym: "DFNA31" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:608645 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110562 name: autosomal dominant nonsyndromic deafness 33 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34." [url:https\://pubmed.ncbi.nlm.nih.gov/19183916/] {comment="url:https://pubmed.ncbi.nlm.nih.gov/37671045/"} comment: Variation in ATP11A, which resides in the chromosome region linked to this disease, 13q34, has been shown to cause autosomal dominant nonsyndromic deafness but evidence does not support it as the cause of this subtype. Reassessment of the haplotype for this disease has suggested that the locus may be inaccurate [JAB]. synonym: "autosomal dominant deafness 33" EXACT [] synonym: "DFNA33" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:614211 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110563 name: autosomal dominant nonsyndromic deafness 36 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11850618] synonym: "autosomal dominant deafness 36" EXACT [] synonym: "DFNA36" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:606705 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110564 name: autosomal dominant nonsyndromic deafness 3A def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9139825] synonym: "autosomal dominant deafness 3A" EXACT [] synonym: "DFNA3A" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:601544 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110565 name: autosomal dominant nonsyndromic deafness 3B def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10471490] synonym: "autosomal dominant deafness 3B" EXACT [] synonym: "DFNA3B" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:612643 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110566 name: autosomal dominant nonsyndromic deafness 40 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12471561] synonym: "autosomal dominant deafness 40" EXACT [] synonym: "DFNA40" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:616357 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110567 name: autosomal dominant nonsyndromic deafness 41 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24211385, url:https\://www.omim.org/entry/608224] synonym: "autosomal dominant deafness 41" EXACT [] synonym: "DFNA41" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:608224 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110568 name: autosomal dominant nonsyndromic deafness 43 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12676899] synonym: "autosomal dominant deafness 43" EXACT [] synonym: "DFNA43" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:608394 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110569 name: autosomal dominant nonsyndromic deafness 44 def: "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17503326] synonym: "autosomal dominant deafness 44" EXACT [] synonym: "DFNA44" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:607453 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110570 name: autosomal dominant nonsyndromic deafness 47 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12634859] synonym: "autosomal dominant deafness 47" EXACT [] synonym: "DFNA47" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:608652 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110571 name: autosomal dominant nonsyndromic deafness 48 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12736868] synonym: "autosomal dominant deafness 48" EXACT [] synonym: "DFNA48" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:607841 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110572 name: autosomal dominant nonsyndromic deafness 49 def: "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14627674] synonym: "autosomal dominant deafness 49" EXACT [] synonym: "DFNA49" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:608372 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110573 name: autosomal dominant nonsyndromic deafness 4A def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15015131] synonym: "autosomal dominant deafness 4A" EXACT [] synonym: "DFNA4A" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:600652 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110574 name: autosomal dominant nonsyndromic deafness 4B def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21368133] synonym: "autosomal dominant deafness 4B" EXACT [] synonym: "DFNA4B" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:614614 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110575 name: autosomal dominant nonsyndromic deafness 5 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15." [url:https\://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss, url:https\://www.ncbi.nlm.nih.gov/pubmed/29849037, url:https\://www.omim.org/entry/600994] synonym: "autosomal dominant deafness 5" EXACT [] synonym: "DFNA5" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:600994 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110576 name: autosomal dominant nonsyndromic deafness 50 def: "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19363479] synonym: "autosomal dominant deafness 50" EXACT [] synonym: "DFNA50" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:613074 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110577 name: autosomal dominant nonsyndromic deafness 51 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20602916] synonym: "autosomal dominant deafness 51" EXACT [] synonym: "chromosome 9q21.11 duplication syndrome" EXACT [] synonym: "DFNA51" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:613558 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness is_a: DOID:0060429 ! chromosomal duplication syndrome [Term] id: DOID:0110578 name: obsolete autosomal dominant nonsyndromic deafness 52 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32." [url:https\://pubmed.ncbi.nlm.nih.gov/12522684/, url:https\://pubmed.ncbi.nlm.nih.gov/27535032/] comment: Merged by OMIM. Same gene as 'term replaced by'. [JAB] synonym: "autosomal dominant deafness 52" EXACT [] synonym: "DFNA52" EXACT OMO:0003012 [] is_obsolete: true replaced_by: DOID:0110546 [Term] id: DOID:0110579 name: autosomal dominant nonsyndromic deafness 53 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15958501] subset: DO_rare_slim synonym: "autosomal dominant deafness 53" EXACT [] synonym: "DFNA53" EXACT OMO:0003012 [] xref: GARD:9934 xref: ICD10CM:H90.3 xref: MIM:609965 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110580 name: autosomal dominant nonsyndromic deafness 54 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15490091] synonym: "autosomal dominant deafness 54" EXACT [] synonym: "DFNA54" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:615649 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110581 name: autosomal dominant nonsyndromic deafness 56 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23936043] synonym: "autosomal dominant deafness 56" EXACT [] synonym: "DFNA56" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:615629 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110582 name: autosomal dominant nonsyndromic deafness 58 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19159392] synonym: "autosomal dominant deafness 58" EXACT [] synonym: "DFNA58" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:615654 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110583 name: autosomal dominant nonsyndromic deafness 59 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19030898] synonym: "autosomal dominant deafness 59" EXACT [] synonym: "DFNA59" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:612642 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110584 name: autosomal dominant nonsyndromic deafness 6 def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11709537, url:https\://www.ncbi.nlm.nih.gov/pubmed/11709538] synonym: "autosomal dominant deafness 14" EXACT [] synonym: "autosomal dominant deafness 38" EXACT [] synonym: "autosomal dominant deafness 6" EXACT [] synonym: "DFNA14" EXACT OMO:0003012 [] synonym: "DFNA38" EXACT OMO:0003012 [] synonym: "DFNA6" EXACT OMO:0003012 [] synonym: "DFNA6/14/38" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:600965 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110585 name: autosomal dominant nonsyndromic deafness 64 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21722859] synonym: "autosomal dominant deafness 64" EXACT [] synonym: "DFNA64" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:614152 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110586 name: autosomal dominant nonsyndromic deafness 65 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24729539, url:https\://www.ncbi.nlm.nih.gov/pubmed/24729547] synonym: "autosomal dominant deafness 65" EXACT [] synonym: "DFNA65" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:616044 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110587 name: autosomal dominant nonsyndromic deafness 66 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26197441] synonym: "autosomal dominant deafness 66" EXACT [] synonym: "DFNA66" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:616969 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110588 name: autosomal dominant nonsyndromic deafness 67 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25077649] synonym: "autosomal dominant deafness 67" EXACT [] synonym: "DFNA67" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:616340 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110589 name: autosomal dominant nonsyndromic deafness 68 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25816005] synonym: "autosomal dominant deafness 68" EXACT [] synonym: "DFNA68" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:616707 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110590 name: autosomal dominant nonsyndromic deafness 69 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26522471] synonym: "autosomal dominant deafness 69" EXACT [] synonym: "DCUA" EXACT OMO:0003012 [] synonym: "DFNA69" EXACT OMO:0003012 [] synonym: "unilateral or asymmetric congenital deafness" EXACT [] xref: ICD10CM:H90.3 xref: MIM:616697 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110591 name: autosomal dominant nonsyndromic deafness 7 def: "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8842739] synonym: "autosomal dominant deafness 7" EXACT [] synonym: "DFNA7" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:601412 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110592 name: autosomal dominant nonsyndromic deafness 70 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26196677] synonym: "autosomal dominant deafness 70" EXACT [] synonym: "DFNA70" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:616968 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110593 name: autosomal dominant nonsyndromic deafness 9 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9806553] synonym: "autosomal dominant deafness 9" EXACT [] synonym: "DFNA9" EXACT OMO:0003012 [] xref: ICD10CM:H90.3 xref: MIM:601369 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110594 name: primary ciliary dyskinesia 1 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10577904, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD1" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 1 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:244400 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110595 name: Stromme syndrome def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25564561] synonym: "apple peel syndrome with microcephaly and ocular anomalies" EXACT [] synonym: "CILD31" EXACT OMO:0003012 [] synonym: "jejunal atresia with microcephaly and ocular anomalies" EXACT [] synonym: "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" EXACT [] synonym: "primary ciliary dyskinesia 31" EXACT [] xref: ICD10CM:Q87.8 xref: MIM:243605 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110596 name: primary ciliary dyskinesia 21 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23354437, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD21" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 21 without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:615294 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110597 name: primary ciliary dyskinesia 22 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23891469, url:https\://www.ncbi.nlm.nih.gov/pubmed/23891471] synonym: "CILD22" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 22 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:615444 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110598 name: primary ciliary dyskinesia 14 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21131972, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD14" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 14 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:613807 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110599 name: primary ciliary dyskinesia 3 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11788826, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD3" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 3 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:608644 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110600 name: primary ciliary dyskinesia 29 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24747639, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD29" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 29 without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:615872 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110601 name: primary ciliary dyskinesia 12 def: "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19200523] synonym: "CILD12" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 12 without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:612650 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110602 name: primary ciliary dyskinesia 11 def: "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19200523] synonym: "CILD11" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 11 without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:612649 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110603 name: primary ciliary dyskinesia 32 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26073779] synonym: "CILD32" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 32 without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:616481 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110604 name: primary ciliary dyskinesia 18 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23040496, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD18" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 18 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:614874 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110605 name: primary ciliary dyskinesia 7 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18022865] synonym: "CILD7" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 7 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:611884 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110606 name: primary ciliary dyskinesia 6 def: "A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17360648, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD6" EXACT OMO:0003012 [] xref: ICD10CM:Q34.8 xref: MIM:610852 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110607 name: primary ciliary dyskinesia 28 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24055112, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD28" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 28 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:615505 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110608 name: primary ciliary dyskinesia 19 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23122589, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD19" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 19 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:614935 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110609 name: primary ciliary dyskinesia 23 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23849778, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD23" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 23 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:615451 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110610 name: primary ciliary dyskinesia 34 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27486783] synonym: "CILD34" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 34 without situs inversus" EXACT [] xref: MIM:617091 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110611 name: primary ciliary dyskinesia 27 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24094744] synonym: "CILD27" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 27 without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:615504 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110612 name: primary ciliary dyskinesia 10 def: "A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19052621] synonym: "CILD10" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 10 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:612518 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110613 name: primary ciliary dyskinesia 16 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21496787, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD16" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 16 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:614017 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110614 name: primary ciliary dyskinesia 4 def: "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14985390] synonym: "CILD4" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 4 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:608646 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110615 name: primary ciliary dyskinesia 25 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23872636, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD25" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 25 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:615482 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110616 name: primary ciliary dyskinesia 8 def: "A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18270537] synonym: "CILD8" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 8 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:612274 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110617 name: primary ciliary dyskinesia 5 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23022101] synonym: "CILD5" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 5 without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:608647 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110618 name: primary ciliary dyskinesia 13 def: "A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19944400, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD13" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 13 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:613193 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110619 name: primary ciliary dyskinesia 33 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26387594] synonym: "CILD33" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 33 without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:616726 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110620 name: primary ciliary dyskinesia 35 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27486780] synonym: "CILD35" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 35 with or without situs inversus" EXACT [] xref: MIM:617092 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110621 name: primary ciliary dyskinesia 17 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22581229, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD17" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 17 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:614679 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110622 name: primary ciliary dyskinesia 9 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18950741, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD9" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 9 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:612444 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110623 name: primary ciliary dyskinesia 15 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21131974, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD15" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 15 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:613808 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110624 name: primary ciliary dyskinesia 30 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25192045, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD30" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 30 without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:616037 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110625 name: primary ciliary dyskinesia 20 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23261303, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD20" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 20 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:615067 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110626 name: primary ciliary dyskinesia 2 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22387996, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD2" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 2 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:606763 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110627 name: primary ciliary dyskinesia 26 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24094744, url:https\://www.ncbi.nlm.nih.gov/pubmed/26998415] synonym: "CILD26" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 26 with or without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:615500 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110628 name: primary ciliary dyskinesia 24 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23993197] synonym: "CILD24" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 24 without situs inversus" EXACT [] xref: ICD10CM:Q34.8 xref: MIM:615481 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110629 name: Wolfram syndrome 1 def: "An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21538838] synonym: "diabetes mellitus AND insipidus with optic atrophy AND deafness" EXACT [] synonym: "DIDMOAD" EXACT OMO:0003012 [] synonym: "WFS1" EXACT OMO:0003012 [] xref: ICD10CM:E13.8 xref: MIM:222300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10632 ! Wolfram syndrome disjoint_from: DOID:0110630 ! Wolfram syndrome 2 [Term] id: DOID:0110630 name: Wolfram syndrome 2 def: "An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25056293] synonym: "WFS2" EXACT OMO:0003012 [] xref: ICD10CM:E13.8 xref: MESH:C565733 xref: MIM:604928 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10632 ! Wolfram syndrome [Term] id: DOID:0110631 name: obsolete arthrogryposis due to muscular dystrophy def: "A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome." [url:https\://www.ncbi.nlm.nih.gov/pubmed/13942250] comment: MIM:253900 and ORDO:1155 cross references have been obsoleted. See arthrogryposis multiplex congenita (DOID:0080954). synonym: "congenital muscular dystrophy producing arthrogryposis" EXACT [] is_obsolete: true [Term] id: DOID:0110632 name: megaconial type congenital muscular dystrophy def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16371353, url:https\://www.ncbi.nlm.nih.gov/pubmed/21665002] subset: DO_rare_slim synonym: "congenital megaconial myopathy" EXACT [] synonym: "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" EXACT [] synonym: "congenital muscular dystrophy with mitochondrial structural abnormalities" EXACT [] synonym: "megaconial congenital muscular dystrophy" EXACT [] xref: ICD10CM:G71.2 xref: MIM:602541 xref: ORDO:280671 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110633 name: rigid spine muscular dystrophy 1 def: "A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11528383, url:https\://www.ncbi.nlm.nih.gov/pubmed/12192640, url:https\://www.ncbi.nlm.nih.gov/pubmed/15122708] subset: DO_rare_slim synonym: "classic MmD" EXACT [] synonym: "classic multiminicore disease" EXACT [] synonym: "classic multiminicore myopathy" EXACT [] synonym: "congenital merosin-positive muscular dystrophy with early spine rigidity" EXACT [] synonym: "desmin-related myopathy with Mallory bodies" EXACT [] synonym: "desmin-related myopathy with Mallory body-like inclusions" EXACT [] synonym: "early-onset desmin-related myopathy" EXACT [] synonym: "Eichsfeld type congenital muscular dystrophy" EXACT [] synonym: "MDRS1" EXACT OMO:0003012 [] synonym: "rigid spine syndrome" EXACT [] synonym: "RSMD1" EXACT OMO:0003012 [] synonym: "RSS" EXACT OMO:0003012 [] synonym: "SEPN1-related myopathy" EXACT [] synonym: "severe classic form minicore myopathy" EXACT [] synonym: "severe classic form multicore myopathy" EXACT [] synonym: "severe classic form multiminicore disease" EXACT [] xref: GARD:4723 xref: ICD10CM:G71.2 xref: ICD10CM:G71.8 xref: MESH:C535683 xref: MIM:602771 xref: ORDO:324604 xref: ORDO:84132 xref: ORDO:97244 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060564 ! spinal disease [Term] id: DOID:0110634 name: congenital muscular dystrophy 1B def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10677302] subset: DO_rare_slim synonym: "CMD1B" EXACT OMO:0003012 [] synonym: "congenital muscular dystrophy type 1B" EXACT [] synonym: "MDC1B" EXACT OMO:0003012 [] xref: ICD10CM:G71.2 xref: MIM:604801 xref: ORDO:98893 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110635 name: muscular dystrophy-dystroglycanopathy type B5 def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11592034, url:https\://www.ncbi.nlm.nih.gov/pubmed/14652796] subset: DO_rare_slim synonym: "congenital muscular dystrophy 1C" EXACT [] synonym: "FKRP-related congenital muscular dystrophy" EXACT [] synonym: "MDC1C" EXACT OMO:0003012 [] synonym: "MDDGB5" EXACT OMO:0003012 [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5" EXACT [] xref: ICD10CM:G71.2 xref: MIM:606612 xref: ORDO:52428 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B [Term] id: DOID:0110636 name: congenital merosin-deficient muscular dystrophy 1A def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24611677, url:https\://www.ncbi.nlm.nih.gov/pubmed/7550355] subset: DO_rare_slim subset: NCIthesaurus synonym: "CMD1A" EXACT OMO:0003012 [] synonym: "congenital muscular dystrophy due to laminin alpha2 deficiency" EXACT [] synonym: "MDC1A" EXACT OMO:0003012 [] synonym: "Merosin-negative congenital muscular dystrophy" EXACT [] xref: MESH:C537384 xref: MIM:607855 xref: NCI:C118783 xref: ORDO:258 xref: SNOMEDCT_US_2023_03_01:787037000 xref: UMLS_CUI:C1263858 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110637 name: muscular dystrophy-dystroglycanopathy type B6 def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12966029, url:https\://www.ncbi.nlm.nih.gov/pubmed/19067344] subset: DO_rare_slim synonym: "congenital muscular dystrophy LARGE-related" EXACT [] synonym: "congenital muscular dystrophy type 1D" EXACT [] synonym: "MDC1D" EXACT OMO:0003012 [] synonym: "MDDGB6" EXACT OMO:0003012 [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6" EXACT [] xref: ICD10CM:G71.2 xref: MIM:608840 xref: ORDO:98894 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B [Term] id: DOID:0110638 name: obsolete congenital muscular dystrophy merosin-positive def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has_material_basis_in mutation in the chromosome region 4p16.3." [url:https\://pubmed.ncbi.nlm.nih.gov/22884442/, url:https\://www.ncbi.nlm.nih.gov/pubmed/1483054, url:https\://www.ncbi.nlm.nih.gov/pubmed/15886997] comment: Initially reported patients determined by original authors to have DOID:0110668 (see PMID:22884442). is_obsolete: true replaced_by: DOID:0110668 [Term] id: DOID:0110639 name: congenital muscular dystrophy due to integrin alpha-7 deficiency def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9590299] subset: DO_rare_slim synonym: "congenital muscular dystrophy with integrin alpha-7 deficiency" EXACT [] synonym: "congenital muscular dystrophy with ITGA7 deficiency" EXACT [] synonym: "congenital myopathy due to integrin alpha-7 deficiency" EXACT [] xref: ICD10CM:G71.2 xref: MIM:613204 xref: ORDO:34520 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110640 name: congenital muscular dystrophy due to LMNA mutation def: "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15148145, url:https\://www.ncbi.nlm.nih.gov/pubmed/18551513] subset: DO_rare_slim synonym: "congenital muscular dystrophy LMNA-related" EXACT [] synonym: "L-CMD" EXACT OMO:0003012 [] synonym: "LMNA-related congenital muscular dystrophy" EXACT [] xref: ICD10CM:G71.2 xref: MIM:613205 xref: ORDO:157973 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110644 name: long QT syndrome 1 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17192539] subset: DO_rare_slim synonym: "LQT1" EXACT OMO:0003012 [] synonym: "ventricular fibrillation with prolonged QT interval" EXACT [] xref: GARD:3284 xref: ICD10CM:I45.8 xref: MIM:192500 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110645 name: long QT syndrome 2 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7889573] subset: DO_rare_slim synonym: "LQT2" EXACT OMO:0003012 [] xref: GARD:3285 xref: ICD10CM:I45.8 xref: MESH:C563614 xref: MIM:613688 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110646 name: long QT syndrome 3 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8541846] subset: DO_rare_slim synonym: "LQT3" EXACT OMO:0003012 [] xref: GARD:3286 xref: ICD10CM:I45.8 xref: MESH:C565840 xref: MIM:603830 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110647 name: long QT syndrome 5 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10973849] subset: DO_rare_slim synonym: "LQT5" EXACT OMO:0003012 [] xref: GARD:10433 xref: ICD10CM:I45.8 xref: MESH:C566766 xref: MIM:613695 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110648 name: long QT syndrome 6 def: "A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10219239] subset: DO_rare_slim synonym: "LQT6" EXACT OMO:0003012 [] xref: GARD:10434 xref: ICD10CM:I45.8 xref: MESH:C566333 xref: MIM:613693 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110649 name: long QT syndrome 8 def: "A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33." [url:https\://pubmed.ncbi.nlm.nih.gov/34079780, url:https\://pubmed.ncbi.nlm.nih.gov/37132248/, url:https\://www.omim.org/MIM\:618447] synonym: "LQT8" EXACT OMO:0003012 [] xref: MIM:618447 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome property_value: exactMatch "MIM:618447" xsd:string [Term] id: DOID:0110650 name: long QT syndrome 9 def: "A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17060380] subset: DO_rare_slim synonym: "LQT9" EXACT OMO:0003012 [] xref: GARD:10435 xref: ICD10CM:I45.8 xref: MESH:C567515 xref: MIM:611818 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110651 name: long QT syndrome 10 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17592081] subset: DO_rare_slim synonym: "LQT10" EXACT OMO:0003012 [] xref: GARD:10436 xref: ICD10CM:I45.8 xref: MESH:C567514 xref: MIM:611819 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110652 name: long QT syndrome 11 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18093912] subset: DO_rare_slim synonym: "LQT11" EXACT OMO:0003012 [] xref: GARD:10437 xref: ICD10CM:I45.8 xref: MESH:C567513 xref: MIM:611820 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110653 name: long QT syndrome 12 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19684871] synonym: "LQT12" EXACT OMO:0003012 [] xref: ICD10CM:I45.8 xref: MESH:C567842 xref: MIM:612955 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110654 name: long QT syndrome 13 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20560207] synonym: "LQT13" EXACT OMO:0003012 [] xref: ICD10CM:I45.8 xref: MIM:613485 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110655 name: long QT syndrome 14 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24076290] synonym: "LQT14" EXACT OMO:0003012 [] xref: ICD10CM:I45.8 xref: MIM:616247 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110656 name: long QT syndrome 15 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23388215] synonym: "LQT15" EXACT OMO:0003012 [] xref: ICD10CM:I45.8 xref: MIM:616249 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110657 name: congenital myasthenic syndrome 8 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19631309, url:https\://www.ncbi.nlm.nih.gov/pubmed/22205389] synonym: "CMS8" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 8 with pre- and postsynaptic defects" EXACT [] synonym: "congenital myasthenic syndrome due to agrin deficiency" EXACT [] xref: MIM:615120 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110658 name: congenital myasthenic syndrome 15 def: "A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23404334] synonym: "CMS15" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 15 without tubular aggregates" EXACT [] xref: MIM:616227 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110659 name: congenital myasthenic syndrome 7 def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25192047, url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100] synonym: "CMS7" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 7 presynaptic" EXACT [] xref: MIM:616040 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110660 name: congenital myasthenic syndrome 12 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12467753, url:https\://www.ncbi.nlm.nih.gov/pubmed/21310273] synonym: "CMS12" EXACT OMO:0003012 [] synonym: "congenital myasthenia 12 with tubular aggregates" EXACT [] xref: MIM:610542 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110661 name: congenital myasthenic syndrome 20 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27569547] synonym: "CMS20" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 20 presynaptic" EXACT [] xref: MIM:617143 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110662 name: congenital myasthenic syndrome 1B def: "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10195214, url:https\://www.ncbi.nlm.nih.gov/pubmed/15079006, url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100] synonym: "CMS1B" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 1B, fast-channel" EXACT [] xref: MIM:608930 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110663 name: congenital myasthenic syndrome 1A def: "A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100, url:https\://www.ncbi.nlm.nih.gov/pubmed/7619526] synonym: "CMS IIa" EXACT OMO:0003012 [] synonym: "CMS1A" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 1A, slow-channel" EXACT [] synonym: "congenital myasthenic syndrome type IIa" EXACT [] xref: MIM:601462 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110664 name: congenital myasthenic syndrome 3C def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16916845] synonym: "congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency" EXACT [] xref: MIM:616323 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110665 name: congenital myasthenic syndrome 3B def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11435464, url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100] synonym: "CMS3B" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 3B, fast-channel" EXACT [] xref: MIM:616322 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110666 name: congenital myasthenic syndrome 3A def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11782989, url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100] synonym: "CMS3A" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 3A, slow-channel" EXACT [] xref: MIM:616321 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110667 name: congenital myasthenic syndrome 5 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100] synonym: "CMS Ic" EXACT OMO:0003012 [] synonym: "CMS5" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome Engel type" EXACT [] synonym: "congenital myasthenic syndrome type Ic" EXACT [] synonym: "EAD" EXACT OMO:0003012 [] synonym: "end plate acetylcholinesterase deficiency" EXACT [] synonym: "Engel congenital myasthenic syndrome" EXACT [] xref: MIM:603034 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110668 name: congenital myasthenic syndrome 10 alt_id: DOID:0110638 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3." [url:https\://pubmed.ncbi.nlm.nih.gov/22884442/, url:https\://www.ncbi.nlm.nih.gov/pubmed/16917026, url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100] synonym: "CMS10" EXACT OMO:0003012 [] synonym: "congenital muscular dystrophy merosin-positive" EXACT [] synonym: "familial limb-girdle myasthenia" EXACT [] synonym: "LGM" EXACT OMO:0003012 [] xref: MIM:254300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110669 name: congenital myasthenic syndrome 14 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23404334, url:https\://www.ncbi.nlm.nih.gov/pubmed/24461433] synonym: "CMS14" EXACT OMO:0003012 [] synonym: "CMSTA3" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 14, with tubular aggregates" EXACT [] synonym: "congenital myasthenic syndrome with tubular aggregates 3" EXACT [] xref: MIM:616228 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110670 name: congenital myasthenic syndrome 9 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15496425, url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100] synonym: "CMS9" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency" EXACT [] xref: MIM:616325 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110671 name: congenital myasthenic syndrome 6 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11172068, url:https\://www.ncbi.nlm.nih.gov/pubmed/12756141, url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100] synonym: "CMS Ia2" EXACT OMO:0003012 [] synonym: "CMS1A2" EXACT OMO:0003012 [] synonym: "CMS6" EXACT OMO:0003012 [] synonym: "CMSEA" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 6, presynaptic" EXACT [] synonym: "congenital myasthenic syndrome type Ia2" EXACT [] synonym: "congenital presynaptic myasthenic syndrome associated with episodic apnea" EXACT [] synonym: "familial infantile myasthenia" EXACT [] synonym: "familial infantile myasthenia gravis 2" EXACT [] synonym: "FIM" EXACT OMO:0003012 [] synonym: "FIMG2" EXACT OMO:0003012 [] xref: MIM:254210 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110672 name: congenital myasthenic syndrome 21 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20123977, url:https\://www.ncbi.nlm.nih.gov/pubmed/27590285] synonym: "CMS21" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 21, presynaptic" EXACT [] xref: MIM:617239 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110673 name: congenital myasthenic syndrome 19 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26626625] synonym: "CMS19" EXACT OMO:0003012 [] xref: MIM:616720 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110674 name: congenital myasthenic syndrome 17 def: "A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24234652] synonym: "CMS17" EXACT OMO:0003012 [] xref: MIM:616304 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110675 name: congenital myasthenic syndrome 11 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12651869, url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100] synonym: "CMS Ie" EXACT OMO:0003012 [] synonym: "CMS11" EXACT OMO:0003012 [] synonym: "CMS1E" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency" EXACT [] synonym: "congenital myasthenic syndrome 1e" EXACT [] xref: MIM:616326 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110676 name: congenital myasthenic syndrome 13 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16870884, url:https\://www.ncbi.nlm.nih.gov/pubmed/22742743] synonym: "CMS13" EXACT OMO:0003012 [] synonym: "CMSTA2" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 13 with tubular aggregates" EXACT [] synonym: "congenital myasthenic syndrome with tubular aggregates 2" EXACT [] xref: MIM:614750 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110677 name: congenital myasthenic syndrome 4B def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100, url:https\://www.ncbi.nlm.nih.gov/pubmed/8755487] synonym: "CMS4B" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 4B fast-channel" EXACT [] xref: MIM:616324 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110678 name: congenital myasthenic syndrome 4A def: "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12141316, url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100, url:https\://www.ncbi.nlm.nih.gov/pubmed/7531341] synonym: "CMS Ia1" EXACT OMO:0003012 [] synonym: "CMS1A1" EXACT OMO:0003012 [] synonym: "CMS4A" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 4A slow-channel" EXACT [] synonym: "congenital myasthenic syndrometype Ia1" EXACT [] xref: MIM:605809 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110679 name: congenital myasthenic syndrome 4C def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100, url:https\://www.ncbi.nlm.nih.gov/pubmed/8957026] synonym: "CMS Id" EXACT OMO:0003012 [] synonym: "CMS1D" EXACT OMO:0003012 [] synonym: "CMS4C" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency" EXACT [] synonym: "congenital myasthenic syndrome type Id" EXACT [] synonym: "familial infantile myasthenia 1" EXACT [] synonym: "FIM1" EXACT OMO:0003012 [] xref: MIM:608931 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110680 name: congenital myasthenic syndrome 2C def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10562302, url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100] synonym: "CMS2C" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency" EXACT [] xref: MIM:616314 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110681 name: congenital myasthenic syndrome 2A def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100, url:https\://www.ncbi.nlm.nih.gov/pubmed/8872460] synonym: "CMS2A" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome 2A slow-channel" EXACT [] xref: MIM:616313 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110682 name: congenital myasthenic syndrome 16 def: "A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12766226] synonym: "CMS16" EXACT OMO:0003012 [] synonym: "congenital myasthenic syndrome acetazolamide-responsive" EXACT [] xref: MIM:614198 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110683 name: congenital myasthenic syndrome 18 def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25381298] synonym: "CMS18" EXACT OMO:0003012 [] xref: MIM:616330 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110698 name: hypotrichosis 1 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10878665] synonym: "hereditary generalized hypotrichosis simplex" EXACT [] synonym: "HHS" EXACT OMO:0003012 [] synonym: "HTS" EXACT OMO:0003012 [] synonym: "HYPT1" EXACT OMO:0003012 [] xref: MIM:605389 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110699 name: hypotrichosis 2 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12754508] synonym: "HTSS1" EXACT OMO:0003012 [] synonym: "hypotrichosis simplex of the scalp 1" EXACT [] synonym: "HYPT2" EXACT OMO:0003012 [] synonym: "Spanish type hypotrichosis" EXACT [] xref: MIM:146520 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110700 name: hypotrichosis 3 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT74 gene on chromosome 12q13.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21188418] synonym: "HTSS2" EXACT OMO:0003012 [] synonym: "hypotrichosis simplex of the scalp 2" EXACT [] synonym: "HYPT3" EXACT OMO:0003012 [] xref: MIM:613981 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110701 name: hypotrichosis 4 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19122663] synonym: "Hypotrichosis, Marie Unna Type, 1" EXACT [] synonym: "HYPT4" EXACT OMO:0003012 [] synonym: "Marie Unna Hereditary Hypotrichosis 1" EXACT [] synonym: "MUHH1" EXACT OMO:0003012 [] xref: MIM:146550 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110702 name: hypotrichosis 5 def: "A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16185270] synonym: "HYPT5" EXACT OMO:0003012 [] synonym: "Marie Unna Hereditary Hypotrichosis 2" EXACT [] synonym: "MUHH2" EXACT OMO:0003012 [] xref: MESH:C567554 xref: MIM:612841 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110703 name: hypotrichosis 6 def: "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12891384] synonym: "autosomal recessive localized hypotrichosis" EXACT [] synonym: "Hypotrichosis, Localized, Autosomal Recessive 1" EXACT [] synonym: "HYPT6" EXACT OMO:0003012 [] synonym: "LAH1" EXACT OMO:0003012 [] synonym: "Monilethrix-like hypotrichosis" EXACT [] xref: MIM:607903 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110704 name: hypotrichosis 7 def: "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20393562] synonym: "hypotrichosis, localized, autosomal recessive 2" EXACT [] synonym: "HYPT7" EXACT OMO:0003012 [] synonym: "LAH2" EXACT OMO:0003012 [] synonym: "total hyptrichosis, Mari type" EXACT [] xref: MIM:604379 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110705 name: hypotrichosis 8 def: "A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18297072] synonym: "hypotrichosis, localized, autosomal recessive 3" EXACT [] synonym: "HYPT8" EXACT OMO:0003012 [] synonym: "LAH3" EXACT OMO:0003012 [] xref: MIM:278150 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110706 name: hypotrichosis 9 def: "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20054564] synonym: "HYPT9" EXACT OMO:0003012 [] xref: MIM:614237 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110707 name: hypotrichosis 10 def: "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20544222] synonym: "HYPT10" EXACT OMO:0003012 [] xref: MIM:614238 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110708 name: hypotrichosis 11 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the SNRPE gene on chromosome 1q32.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23246290] synonym: "HYPT11" EXACT OMO:0003012 [] xref: MIM:615059 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110709 name: hypotrichosis 12 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21412954] synonym: "HYPT12" EXACT OMO:0003012 [] xref: MIM:615885 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110710 name: hypotrichosis 13 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22592156] synonym: "hypotrichosis with woolly hair" EXACT [] synonym: "HYPT13" EXACT OMO:0003012 [] xref: MIM:615896 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110711 name: congenital hypotrichosis with juvenile macular dystrophy def: "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11544476] subset: DO_rare_slim synonym: "HJMD" EXACT OMO:0003012 [] synonym: "hypotrichosis with cone-rod dystrophy" EXACT [] xref: GARD:3066 xref: MIM:601553 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110712 name: Oguchi disease-1 def: "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15234147, url:https\://www.ncbi.nlm.nih.gov/pubmed/7670478] synonym: "congenital stationary night blindness Oguchi type 1" EXACT [] synonym: "CSNBO1" EXACT OMO:0003012 [] xref: MIM:258100 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease disjoint_from: DOID:0110713 ! Oguchi disease-2 [Term] id: DOID:0110713 name: Oguchi disease-2 def: "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7670478, url:https\://www.ncbi.nlm.nih.gov/pubmed/9020843] synonym: "congenital stationary night blindness Oguchi type 2" EXACT [] synonym: "CSNBO2" EXACT OMO:0003012 [] xref: MIM:613411 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110714 name: congenital stationary night blindness 1G def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22190596] synonym: "congenital stationary night blindness type 1G" EXACT [] synonym: "CSNB1G" EXACT OMO:0003012 [] xref: MIM:616389 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110715 name: congenital stationary night blindness autosomal dominant 3 def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8673138] synonym: "CSNBAD3" EXACT OMO:0003012 [] synonym: "Nougaret type congenital stationary night blindness" EXACT [] xref: MIM:610444 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110716 name: Warburg micro syndrome 1 def: "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20512159] synonym: "Micro Syndrome 1" EXACT [] synonym: "WARBM1" EXACT OMO:0003012 [] xref: ICD10CM:Q87.0 xref: MIM:600118 is_a: DOID:0060237 ! Warburg micro syndrome [Term] id: DOID:0110717 name: Warburg micro syndrome 2 def: "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20967465] synonym: "Micro Syndrome 2" EXACT [] synonym: "WARBM2" EXACT OMO:0003012 [] xref: ICD10CM:Q87.0 xref: MIM:614225 is_a: DOID:0060237 ! Warburg micro syndrome [Term] id: DOID:0110718 name: Warburg micro syndrome 3 def: "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15216543] synonym: "Micro Syndrome 3" EXACT [] synonym: "WARBM3" EXACT OMO:0003012 [] xref: ICD10CM:Q87.0 xref: MIM:614222 is_a: DOID:0060237 ! Warburg micro syndrome [Term] id: DOID:0110719 name: Warburg micro syndrome 4 def: "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24239381] synonym: "Micro Syndrome 4" EXACT [] synonym: "WARBM4" EXACT OMO:0003012 [] xref: ICD10CM:Q87.0 xref: MIM:615663 is_a: DOID:0060237 ! Warburg micro syndrome [Term] id: DOID:0110720 name: neuronal ceroid lipofuscinosis 4 def: "A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21820099, url:https\://www.ncbi.nlm.nih.gov/pubmed/22073189] subset: DO_rare_slim synonym: "autosomal dominant neuronal ceroid lipofuscinosis 4B" EXACT [] synonym: "CLN4B disease" EXACT [] synonym: "neuronal ceroid lipofuscinosis 4 Parry type" EXACT [] synonym: "neuronal ceroid lipofuscinosis 4B" EXACT [] xref: ICD10CM:E75.4 xref: MIM:162350 xref: ORDO:228343 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110721 name: neuronal ceroid lipofuscinosis 1 def: "A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7637805] subset: DO_rare_slim synonym: "CLN1" EXACT OMO:0003012 [] synonym: "neuronal ceroid lipofuscinosis 1 variable age of onset" EXACT [] xref: GARD:1219 xref: ICD10CM:E75.4 xref: MIM:256730 xref: ORDO:228329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110722 name: neuronal ceroid lipofuscinosis 7 def: "A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17564970] subset: DO_rare_slim synonym: "CLN7" EXACT OMO:0003012 [] xref: GARD:1220 xref: ICD10CM:E75.4 xref: MIM:610951 xref: ORDO:228366 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110723 name: neuronal ceroid lipofuscinosis 8 def: "A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15024724, url:https\://www.ncbi.nlm.nih.gov/pubmed/15074367, url:https\://www.ncbi.nlm.nih.gov/pubmed/15965709] subset: DO_rare_slim synonym: "CLN8" EXACT OMO:0003012 [] xref: ICD10CM:E75.4 xref: MIM:600143 xref: ORDO:228354 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110724 name: neuronal ceroid lipofuscinosis 8 northern epilepsy variant def: "A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8014963, url:https\://www.ncbi.nlm.nih.gov/pubmed/8743986] subset: DO_rare_slim synonym: "EPMR" EXACT OMO:0003012 [] synonym: "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant" EXACT [] synonym: "progressive epilepsy with mental retardation, northern epilepsy" EXACT [] synonym: "progressive epilepsy-intellectual disability syndrome, Finnish type" EXACT [] xref: GARD:2163 xref: GARD:4010 xref: ICD10CM:E75.4 xref: MIM:610003 xref: ORDO:1947 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110725 name: neuronal ceroid lipofuscinosis 10 def: "A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16685649] subset: DO_rare_slim synonym: "Cathepsin D deficiency" EXACT [] synonym: "CLN10" EXACT OMO:0003012 [] synonym: "neuronal ceroid lipofuscinosis cathepsin D-deficient" EXACT [] synonym: "neuronal ceroid lipofuscinosis due to cathepsin D deficiency" EXACT [] xref: GARD:1218 xref: ICD10CM:E75.4 xref: MIM:610127 xref: ORDO:228337 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110726 name: neuronal ceroid lipofuscinosis 2 def: "A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15965709, url:https\://www.ncbi.nlm.nih.gov/pubmed/18684116] subset: DO_rare_slim synonym: "CLN2" EXACT OMO:0003012 [] synonym: "neuronal ceroid lipofuscinosis 2 variable age at onset" EXACT [] xref: GARD:3045 xref: ICD10CM:E75.4 xref: MIM:204500 xref: ORDO:228349 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110727 name: neuronal ceroid lipofuscinosis 13 def: "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23297359] subset: DO_rare_slim synonym: "CLN13" EXACT OMO:0003012 [] synonym: "neuronal ceroid lipofuscinosis 13 Kufs type" EXACT [] xref: ICD10CM:E75.4 xref: MIM:615362 xref: ORDO:352709 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110728 name: neuronal ceroid lipofuscinosis 5 def: "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15965709, url:https\://www.ncbi.nlm.nih.gov/pubmed/9662406] subset: DO_rare_slim synonym: "CLN5" EXACT OMO:0003012 [] synonym: "neuronal ceroid lipofuscinosis 5 variable age of onset" EXACT [] xref: GARD:1223 xref: ICD10CM:E75.4 xref: MIM:256731 xref: ORDO:228360 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110729 name: neuronal ceroid lipofuscinosis 6A def: "A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15965709, url:https\://www.ncbi.nlm.nih.gov/pubmed/15996215] subset: DO_rare_slim synonym: "CLN6" EXACT OMO:0003012 [] synonym: "neuronal ceroid lipofuscinosis 6" EXACT [] synonym: "neuronal ceroid lipofuscinosis 6 variable age of onset" EXACT [] xref: GARD:1224 xref: ICD10CM:E75.4 xref: MIM:601780 xref: ORDO:228363 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110730 name: neuronal ceroid lipofuscinosis 6B def: "A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15965709, url:https\://www.ncbi.nlm.nih.gov/pubmed/21549341] subset: DO_rare_slim synonym: "autosomal recessive neuronal ceroid lipofuscinosis 4A" EXACT [] synonym: "CLN4A" EXACT OMO:0003012 [] synonym: "neuronal ceroid lipofuscinosis 4A" EXACT [] xref: ICD10CM:E75.4 xref: MIM:204300 xref: ORDO:228340 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110731 name: neuronal ceroid lipofuscinosis 3 alt_id: DOID:0050756 def: "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11." [url:https\://ghr.nlm.nih.gov/condition/cln3-disease, url:https\://www.ncbi.nlm.nih.gov/pubmed/15965709, url:https\://www.ncbi.nlm.nih.gov/pubmed/7553855] subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "Batten disease" EXACT [] synonym: "CLN3" EXACT OMO:0003012 [] synonym: "juvenile neuronal ceroid lipofuscinosis" EXACT [] xref: GARD:5897 xref: ICD10CM:E75.4 xref: MIM:204200 xref: ORDO:228346 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110732 name: neuronal ceroid lipofuscinosis 11 def: "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22608501] subset: DO_rare_slim synonym: "CLN11" EXACT OMO:0003012 [] xref: ICD10CM:E75.4 xref: MIM:614706 xref: ORDO:314629 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110733 name: neuronal ceroid lipofuscinosis 9 def: "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seizures." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15349861] subset: DO_rare_slim synonym: "CLN9" EXACT OMO:0003012 [] xref: GARD:6618 xref: ICD10CM:E75.4 xref: MIM:609055 xref: ORDO:228357 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110734 name: neurodegeneration with brain iron accumulation def: "A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia." [url:https\://rarediseases.info.nih.gov/diseases/11899/index, url:https\://www.ncbi.nlm.nih.gov/pubmed/18981035, url:https\://www.ninds.nih.gov/health-information/disorders/neurodegeneration-brain-iron-accumulation] subset: DO_rare_slim synonym: "NBIA" EXACT OMO:0003012 [] xref: GARD:11899 xref: MESH:C538421 xref: MIM:PS234200 xref: ORDO:385 xref: UMLS_CUI:C2931845 is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:0110735 name: neurodegeneration with brain iron accumulation 2a def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18443314] subset: DO_rare_slim synonym: "INAD1" EXACT OMO:0003012 [] synonym: "Infantile Neuroaxonal Dystrophy 1" EXACT [] synonym: "NBIA2a" EXACT OMO:0003012 [] synonym: "Neurodegeneration, Pla2g6-Associated" EXACT [] synonym: "Seitelberger Disease" EXACT [] xref: GARD:2751 xref: ICD10CM:G23.0 xref: MIM:256600 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110736 name: neurodegeneration with brain iron accumulation 2b def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18799783] synonym: "NBIA2b" EXACT OMO:0003012 [] synonym: "Neuroaxonal Dystrophy, Atypical" EXACT [] synonym: "Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related" EXACT [] xref: ICD10CM:G23.0 xref: MIM:610217 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110737 name: neurodegeneration with brain iron accumulation 3 def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16116125] subset: DO_rare_slim synonym: "Adult basal ganglia disease" EXACT [] synonym: "Ferritin-related neurodegeneration" EXACT [] synonym: "Hereditary ferritinopathy" EXACT [] synonym: "NBIA3" EXACT OMO:0003012 [] synonym: "Neuroferritinopathy" EXACT [] synonym: "Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset" EXACT [] xref: MESH:C548080 xref: MIM:606159 xref: ORDO:157846 xref: SNOMEDCT_US_2023_03_01:699299001 xref: UMLS_CUI:C1853578 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110738 name: neurodegeneration with brain iron accumulation 4 def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23269600] subset: DO_rare_slim synonym: "Mitochondrial Protein-Associated Neurodegeneration" EXACT [] synonym: "MPAN" EXACT OMO:0003012 [] synonym: "NBIA due to C19orf12 mutation" EXACT [] synonym: "NBIA4" EXACT OMO:0003012 [] synonym: "Neurodegeneration with brain iron accumulation due to C19orf12 mutation" EXACT [] synonym: "Neurodegeneration with brain iron accumulation type 4" EXACT [] xref: ICD10CM:G23.0 xref: MIM:614298 xref: ORDO:289560 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110739 name: neurodegeneration with brain iron accumulation 5 def: "A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23176820] subset: DO_rare_slim synonym: "Beta-Propeller Protein-Associated Neurodegeneration" EXACT [] synonym: "BPAN" EXACT OMO:0003012 [] synonym: "NBIA5" EXACT OMO:0003012 [] synonym: "SENDA" EXACT OMO:0003012 [] synonym: "Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood" EXACT [] xref: ICD10CM:G23.0 xref: MIM:300894 xref: ORDO:329284 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110740 name: neurodegeneration with brain iron accumulation 6 def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24360804] subset: DO_rare_slim synonym: "COASY protein-associated neurodegeneration" EXACT [] synonym: "CoPAN" EXACT OMO:0003012 [] synonym: "NBIA6" EXACT OMO:0003012 [] synonym: "Neurodegeneration with brain iron accumulation due to COASY mutation" EXACT [] xref: ICD10CM:G23.0 xref: MIM:615643 xref: ORDO:397725 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110741 name: type 1 diabetes mellitus 2 def: "A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6363172] synonym: "IDDM2" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 2" EXACT [] xref: ICD10CM:E10 xref: MIM:125852 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110742 name: type 1 diabetes mellitus 3 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7842018] synonym: "IDDM3" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 3" EXACT [] xref: ICD10CM:E10 xref: MIM:600318 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110743 name: type 1 diabetes mellitus 4 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9683605] synonym: "IDDM4" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 4" EXACT [] xref: ICD10CM:E10 xref: MIM:600319 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110744 name: type 1 diabetes mellitus 5 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15247916] synonym: "IDDM5" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 5" EXACT [] xref: ICD10CM:E10 xref: MIM:600320 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110745 name: type 1 diabetes mellitus 6 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9215667] synonym: "IDDM6" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 6" EXACT [] xref: ICD10CM:E10 xref: MIM:601941 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110746 name: type 1 diabetes mellitus 7 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7704030] synonym: "IDDM7" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 7" EXACT [] xref: ICD10CM:E10 xref: MIM:600321 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110747 name: type 1 diabetes mellitus 8 def: "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7573053] synonym: "IDDM8" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 8" EXACT [] xref: ICD10CM:E10 xref: MIM:600883 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110748 name: obsolete type 1 diabetes mellitus 9 comment: not in OMIM, missed that I shouldn't have added this one - Sue synonym: "IDDM9" EXACT [] synonym: "Insulin-Dependent Diabetes Mellitus 9" EXACT [] xref: ICD10CM:E10 is_obsolete: true [Term] id: DOID:0110749 name: type 1 diabetes mellitus 10 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8072542] synonym: "IDDM10" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 10" EXACT [] xref: ICD10CM:E10 xref: MIM:601942 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110750 name: type 1 diabetes mellitus 11 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8617492] synonym: "IDDM11" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 11" EXACT [] xref: ICD10CM:E10 xref: MIM:601208 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110751 name: type 1 diabetes mellitus 12 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8817351] synonym: "IDDM12" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 12" EXACT [] xref: ICD10CM:E10 xref: MIM:601388 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110752 name: type 1 diabetes mellitus 13 def: "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8650584] synonym: "IDDM13" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 13" EXACT [] xref: ICD10CM:E10 xref: MIM:601318 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110753 name: type 1 diabetes mellitus 15 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8981961] synonym: "IDDM15" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 15" EXACT [] xref: ICD10CM:E10 xref: MIM:601666 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110754 name: type 1 diabetes mellitus 17 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9788970] synonym: "IDDM17" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 17" EXACT [] xref: ICD10CM:E10 xref: MIM:603266 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110755 name: type 1 diabetes mellitus 18 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11175794] synonym: "IDDM18" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 18" EXACT [] xref: ICD10CM:E10 xref: MIM:605598 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110756 name: type 1 diabetes mellitus 19 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16699517] synonym: "IDDM19" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 19" EXACT [] xref: ICD10CM:E10 xref: MIM:610155 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110757 name: type 1 diabetes mellitus 20 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9313763] synonym: "IDDM20" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 20" EXACT [] xref: ICD10CM:E10 xref: MIM:612520 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110758 name: type 1 diabetes mellitus 21 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19073967] synonym: "IDDM21" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 21" EXACT [] xref: ICD10CM:E10 xref: MIM:612521 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110759 name: type 1 diabetes mellitus 22 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19073967] synonym: "IDDM22" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 22" EXACT [] xref: ICD10CM:E10 xref: MIM:612522 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110760 name: type 1 diabetes mellitus 23 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8072542] synonym: "IDDM23" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 23" EXACT [] xref: ICD10CM:E10 xref: MIM:612622 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110761 name: type 1 diabetes mellitus 24 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19430480] synonym: "IDDM24" EXACT OMO:0003012 [] synonym: "Insulin-Dependent Diabetes Mellitus 24" EXACT [] xref: ICD10CM:E10 xref: MIM:613006 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110762 name: obsolete hereditary spastic paraplegia 1 is_obsolete: true [Term] id: DOID:0110763 name: hereditary spastic paraplegia 10 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12355402] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 10" EXACT [] synonym: "autosomal dominant spastic paraplegia type 10" EXACT [] synonym: "SPG10" EXACT OMO:0003012 [] xref: GARD:9590 xref: ICD10CM:G11.4 xref: MIM:604187 xref: ORDO:100991 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110764 name: hereditary spastic paraplegia 11 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17322883] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 11" EXACT [] synonym: "autosomal recessive spastic paraplegia complicated with thin corpus callosum" EXACT [] synonym: "autosomal recessive spastic paraplegia type 11" EXACT [] synonym: "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum" EXACT [] synonym: "HSP-TCC" EXACT OMO:0003012 [] synonym: "Nakamura-Osame syndrome" EXACT [] synonym: "spastic paraplegia-intellectual disability-thin corpus callosum syndrome" EXACT [] synonym: "SPG11" EXACT OMO:0003012 [] xref: GARD:4919 xref: ICD10CM:G11.4 xref: MIM:604360 xref: ORDO:2822 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110765 name: hereditary spastic paraplegia 12 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22232211] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 12" EXACT [] synonym: "autosomal dominant spastic paraplegia type 12" EXACT [] synonym: "SPG12" EXACT OMO:0003012 [] xref: GARD:9586 xref: ICD10CM:G11.4 xref: MIM:604805 xref: ORDO:100993 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110766 name: hereditary spastic paraplegia 13 def: "A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11898127] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 13" EXACT [] synonym: "SPG13" EXACT OMO:0003012 [] xref: GARD:9616 xref: ICD10CM:G11.4 xref: MIM:605280 xref: ORDO:100994 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110767 name: hereditary spastic paraplegia 14 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10877981] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 14" EXACT [] synonym: "autosomal recessive spastic paraplegia type 14" EXACT [] synonym: "SPG14" EXACT OMO:0003012 [] xref: GARD:9589 xref: ICD10CM:G11.4 xref: MIM:605229 xref: ORDO:100995 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110768 name: hereditary spastic paraplegia 15 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18394578] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 15" EXACT [] synonym: "autosomal recessive spastic paraplegia type 15" EXACT [] synonym: "hereditary spastic paraparesis type 15" EXACT [] synonym: "Kjellin syndrome" EXACT [] synonym: "spastic paraplegia and retinal degeneration" EXACT [] synonym: "spastic paraplegia-retinal degeneration syndrome" EXACT [] synonym: "SPG15" EXACT OMO:0003012 [] xref: GARD:9581 xref: ICD10CM:G11.4 xref: MIM:270700 xref: ORDO:100996 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110769 name: hereditary spastic paraplegia 16 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9254866] subset: DO_rare_slim synonym: "SPG16" EXACT OMO:0003012 [] synonym: "X-linked spastic paraplegia 16" EXACT [] synonym: "X-linked spastic paraplegia type 16" EXACT [] xref: GARD:9585 xref: ICD10CM:G11.4 xref: MIM:300266 xref: ORDO:100997 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110770 name: hereditary spastic paraplegia 17 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14981520] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 17" EXACT [] synonym: "autosomal dominant spastic paraplegia type 17" EXACT [] synonym: "dHMN5B" EXACT OMO:0003012 [] synonym: "distal hereditary motor neuropathy type 5B" EXACT [] synonym: "Silver spastic paraplegia syndrome" EXACT [] synonym: "Silver syndrome" EXACT [] synonym: "spastic paraplegia with amyotrophy of hands and feet" EXACT [] synonym: "spastic paraplegia-amyotrophy of hands and feet" EXACT [] synonym: "SPG17" EXACT OMO:0003012 [] xref: GARD:4219 xref: ICD10CM:G11.4 xref: MIM:270685 xref: ORDO:100998 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110771 name: hereditary spastic paraplegia 18 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21330303] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 18" EXACT [] synonym: "autosomal recessive spastic paraplegia type 18" EXACT [] synonym: "IDMDC" EXACT OMO:0003012 [] synonym: "intellectual disability, motor dysfunction and joint contractures" EXACT [] synonym: "SPG18" EXACT OMO:0003012 [] xref: GARD:4922 xref: ICD10CM:G11.4 xref: MIM:611225 xref: ORDO:209951 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110772 name: hereditary spastic paraplegia 19 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12112072] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 19" EXACT [] synonym: "autosomal dominant spastic paraplegia type 19" EXACT [] synonym: "SPG19" EXACT OMO:0003012 [] xref: GARD:9588 xref: ICD10CM:G11.4 xref: MIM:607152 xref: ORDO:100999 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110773 name: hereditary spastic paraplegia 2 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8012387] subset: DO_rare_slim synonym: "spastic paraplegia type 2" EXACT [] synonym: "SPG2" EXACT OMO:0003012 [] synonym: "X-linked spastic paraplegia 2" EXACT [] xref: GARD:4923 xref: ICD10CM:G11.4 xref: MIM:312920 xref: ORDO:99015 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110774 name: hereditary spastic paraplegia 23 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14681889] subset: DO_rare_slim synonym: "Lison syndrome" EXACT [] synonym: "Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome" EXACT [] synonym: "spastic paraplegia 23" EXACT [] synonym: "spastic paraplegia with pigmentary abnormalities" EXACT [] synonym: "SPG23" EXACT OMO:0003012 [] xref: GARD:336 xref: ICD10CM:G11.4 xref: MIM:270750 xref: ORDO:101003 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110775 name: hereditary spastic paraplegia 24 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12499481] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 24" EXACT [] synonym: "autosomal recessive spastic paraplegia type 24" EXACT [] synonym: "SPG24" EXACT OMO:0003012 [] xref: GARD:9296 xref: ICD10CM:G11.4 xref: MIM:607584 xref: ORDO:101004 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110776 name: hereditary spastic paraplegia 25 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12070243] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 25" EXACT [] synonym: "autosomal recessive spastic paraplegia type 25" EXACT [] synonym: "SPG25" EXACT OMO:0003012 [] xref: GARD:9582 xref: ICD10CM:G11.4 xref: MIM:608220 xref: ORDO:101005 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110777 name: hereditary spastic paraplegia 26 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23746551] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 26" EXACT [] synonym: "autosomal recessive spastic paraplegia type 26" EXACT [] synonym: "GM2 synthase deficiency" EXACT [] synonym: "SPG26" EXACT OMO:0003012 [] xref: GARD:9587 xref: ICD10CM:G11.4 xref: MIM:609195 xref: ORDO:101006 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110778 name: hereditary spastic paraplegia 27 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15455396] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 27" EXACT [] synonym: "autosomal recessive spastic paraplegia type 27" EXACT [] synonym: "SPG27" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:609041 xref: ORDO:101007 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110779 name: hereditary spastic paraplegia 28 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23176821] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 28" EXACT [] synonym: "autosomal recessive spastic paraplegia type 28" EXACT [] synonym: "SPG28" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:609340 xref: ORDO:101008 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110780 name: hereditary spastic paraplegia 29 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16130112] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 29" EXACT [] synonym: "SPG29" EXACT OMO:0003012 [] xref: GARD:9729 xref: ICD10CM:G11.4 xref: MIM:609727 xref: ORDO:101009 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110781 name: hereditary spastic paraplegia 30 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37." [url:https\://pubmed.ncbi.nlm.nih.gov/31488895/, url:https\://www.ncbi.nlm.nih.gov/pubmed/21487076] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 30" NARROW [] synonym: "autosomal recessive spastic paraplegia 30" NARROW [] synonym: "autosomal spastic paraplegia type 30" EXACT [] synonym: "SPG30" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:610357 xref: ORDO:101010 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110782 name: hereditary spastic paraplegia 31 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16826527] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 31" EXACT [] synonym: "autosomal dominant spastic paraplegia type 31" EXACT [] synonym: "SPG31" EXACT OMO:0003012 [] xref: GARD:10817 xref: ICD10CM:G11.4 xref: MIM:610250 xref: ORDO:101011 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110783 name: hereditary spastic paraplegia 32 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17515546] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 32" EXACT [] synonym: "autosomal recessive spastic paraplegia type 32" EXACT [] synonym: "SPG32" EXACT OMO:0003012 [] xref: GARD:12749 xref: ICD10CM:G11.4 xref: MIM:611252 xref: ORDO:171622 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110784 name: hereditary spastic paraplegia 33 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16826525] synonym: "autosomal dominant spastic paraplegia 33" EXACT [] synonym: "SPG33" EXACT OMO:0003012 [] xref: MIM:610244 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110785 name: hereditary spastic paraplegia 34 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12210342] subset: DO_rare_slim synonym: "SPG34" EXACT OMO:0003012 [] synonym: "X-linked spastic paraplegia 34" EXACT [] synonym: "X-linked spastic paraplegia type 34" EXACT [] xref: ICD10CM:G11.4 xref: MIM:300750 xref: ORDO:171607 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110786 name: hereditary spastic paraplegia 35 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19068277] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 35" EXACT [] synonym: "autosomal recessive spastic paraplegia type 35" EXACT [] synonym: "FAHN" EXACT OMO:0003012 [] synonym: "fatty acid hydroxylase-associated neurodegeneration" EXACT [] synonym: "leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia" EXACT [] synonym: "SPG35" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:612319 xref: ORDO:171629 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110787 name: hereditary spastic paraplegia 36 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19357379] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 36" EXACT [] synonym: "autosomal dominant spastic paraplegia type 36" EXACT [] synonym: "SPG36" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:613096 xref: ORDO:320365 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110788 name: hereditary spastic paraplegia 37 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17605047] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 37" EXACT [] synonym: "autosomal dominant spastic paraplegia type 37" EXACT [] synonym: "SPG37" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:611945 xref: ORDO:171612 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110789 name: hereditary spastic paraplegia 38 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18401025] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 38" EXACT [] synonym: "autosomal dominant spastic paraplegia type 38" EXACT [] synonym: "SPG38" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:612335 xref: ORDO:171617 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110790 name: hereditary spastic paraplegia 39 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18313024] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 39" EXACT [] synonym: "autosomal recessive spastic paraplegia type 39" EXACT [] synonym: "NTE-related motor neuron disorder" EXACT [] synonym: "NTEMND" EXACT OMO:0003012 [] synonym: "spastic paraplegia due to neuropathy target esterase mutation" EXACT [] synonym: "spastic paraplegia due to NTE mutation" EXACT [] synonym: "SPG39" EXACT OMO:0003012 [] xref: GARD:4924 xref: ICD10CM:G11.4 xref: MIM:612020 xref: ORDO:139480 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110791 name: hereditary spastic paraplegia 3A def: "A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11685207] subset: DO_rare_slim synonym: "autosomal dominant familial spastic paraplegia 1" EXACT [] synonym: "autosomal dominant spastic paraplegia 3" EXACT [] synonym: "autosomal dominant spastic paraplegia type 3" EXACT [] synonym: "FSP1" EXACT OMO:0003012 [] synonym: "SPG3A" EXACT OMO:0003012 [] synonym: "strumpell disease" EXACT [] xref: GARD:5041 xref: ICD10CM:G11.4 xref: MIM:182600 xref: ORDO:100984 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110792 name: hereditary spastic paraplegia 4 def: "A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9302257] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 4" EXACT [] synonym: "autosomal dominant spastic paraplegia type 4" EXACT [] synonym: "SPG4" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:182601 xref: ORDO:100985 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110793 name: hereditary spastic paraplegia 41 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18364116] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 41" EXACT [] synonym: "autosomal dominant spastic paraplegia type 41" EXACT [] synonym: "SPG41" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:613364 xref: ORDO:320355 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110794 name: hereditary spastic paraplegia 42 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19061983] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 42" EXACT [] synonym: "autosomal dominant spastic paraplegia type 42" EXACT [] synonym: "SPG42" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:612539 xref: ORDO:171863 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110795 name: hereditary spastic paraplegia 43 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23857908] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 43" EXACT [] synonym: "autosomal recessive spastic paraplegia type 43" EXACT [] synonym: "SPG43" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:615043 xref: ORDO:320370 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110796 name: hereditary spastic paraplegia 44 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19056803] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 44" EXACT [] synonym: "SPG44" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:613206 xref: ORDO:320401 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110797 name: hereditary spastic paraplegia 45 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24482476] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 45" EXACT [] synonym: "autosomal recessive spastic paraplegia type 45" EXACT [] synonym: "autosomal recessive spastic paraplegia type 65" EXACT [] synonym: "SPG45" EXACT OMO:0003012 [] synonym: "SPG65" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:613162 xref: ORDO:320396 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110798 name: hereditary spastic paraplegia 46 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23332916] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 46" EXACT [] synonym: "autosomal recessive spastic paraplegia type 46" EXACT [] synonym: "SPG46" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:614409 xref: ORDO:320391 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110799 name: hereditary spastic paraplegia 47 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21620353, url:https\://www.ncbi.nlm.nih.gov/pubmed/22290197] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 47" EXACT [] synonym: "CPSQ5" EXACT OMO:0003012 [] synonym: "spastic quadriplegic cerebral palsy 5" EXACT [] synonym: "SPG47" EXACT OMO:0003012 [] xref: MIM:614066 xref: ORDO:280763 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110800 name: hereditary spastic paraplegia 48 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20613862] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 48" EXACT [] synonym: "autosomal recessive spastic paraplegia type 48" EXACT [] synonym: "SPG48" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:613647 xref: ORDO:306511 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110801 name: hereditary spastic paraplegia 49 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23176824] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 49" EXACT [] synonym: "autosomal recessive spastic paraplegia type 49" EXACT [] synonym: "SPG49" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:615031 xref: ORDO:320385 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110802 name: hereditary spastic paraplegia 50 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1." [url:https\://www.ncbi.nlm.nih.gov/books/NBK535153/, url:https\://www.ncbi.nlm.nih.gov/pubmed/19559397] subset: DO_rare_slim synonym: "adaptor protein complex 4 deficiency" EXACT [] synonym: "AP-4 deficiency syndrome" EXACT [] synonym: "AP-4-Associated Hereditary Spastic Paraplegia" EXACT [] synonym: "autosomal recessive spastic paraplegia 50" EXACT [] synonym: "SPG50" EXACT OMO:0003012 [] xref: MIM:612936 xref: ORDO:280763 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110803 name: hereditary spastic paraplegia 51 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20972249, url:https\://www.ncbi.nlm.nih.gov/pubmed/21620353] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 51" EXACT [] synonym: "CPSQ4" EXACT OMO:0003012 [] synonym: "spastic quadriplegic cerebral palsy 4" EXACT [] synonym: "SPG51" EXACT OMO:0003012 [] xref: GARD:10999 xref: MIM:613744 xref: ORDO:280763 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110804 name: hereditary spastic paraplegia 52 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21620353] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 52" EXACT [] synonym: "CPSQ6" EXACT OMO:0003012 [] synonym: "spastic quadriplegic cerebral palsy 6" EXACT [] synonym: "SPG52" EXACT OMO:0003012 [] xref: MIM:614067 xref: ORDO:280763 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110805 name: hereditary spastic paraplegia 53 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22717650] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 53" EXACT [] synonym: "autosomal recessive spastic paraplegia type 53" EXACT [] synonym: "SPG53" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:614898 xref: ORDO:319199 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110806 name: hereditary spastic paraplegia 54 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23176823] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 54" EXACT [] synonym: "autosomal recessive spastic paraplegia type 54" EXACT [] synonym: "SPG54" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:615033 xref: ORDO:320380 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110807 name: hereditary spastic paraplegia 55 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23188110] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 55" EXACT [] synonym: "autosomal recessive spastic paraplegia type 55" EXACT [] synonym: "SPG55" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:615035 xref: ORDO:320375 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110808 name: hereditary spastic paraplegia 56 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23176821] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 56" EXACT [] synonym: "autosomal recessive spastic paraplegia type 56" EXACT [] synonym: "SPG56" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:615030 xref: ORDO:320411 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110809 name: hereditary spastic paraplegia 57 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23479643] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 57" EXACT [] synonym: "autosomal recessive spastic paraplegia type 57" EXACT [] synonym: "SPG57" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:615658 xref: ORDO:431329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110810 name: hereditary spastic paraplegia 5A def: "A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18252231] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 5A" EXACT [] synonym: "autosomal recessive spastic paraplegia type 5A" EXACT [] synonym: "SPG5A" EXACT OMO:0003012 [] xref: GARD:4926 xref: ICD10CM:G11.4 xref: MIM:270800 xref: ORDO:100986 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110811 name: hereditary spastic paraplegia 6 def: "A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14508710] subset: DO_rare_slim synonym: "autosomal dominant familial spastic paraplegia type 3" EXACT [] synonym: "autosomal dominant spastic paraplegia 6" EXACT [] synonym: "autosomal dominant spastic paraplegia type 6" EXACT [] synonym: "FSP3" EXACT OMO:0003012 [] synonym: "SPG6" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:600363 xref: ORDO:100988 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110812 name: hereditary spastic paraplegia 61 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24482476] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 61" EXACT [] synonym: "autosomal recessive spastic paraplegia type 61" EXACT [] synonym: "SPG61" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:615685 xref: ORDO:401780 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110813 name: hereditary spastic paraplegia 62 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24482476] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 62" EXACT [] synonym: "autosomal recessive spastic paraplegia type 62" EXACT [] synonym: "SPG62" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:615681 xref: ORDO:401785 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110814 name: hereditary spastic paraplegia 63 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24482476] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 63" EXACT [] synonym: "spastic paraplegia 63" EXACT [] synonym: "SPG63" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:615686 xref: ORDO:401805 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110815 name: hereditary spastic paraplegia 64 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24482476] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 64" EXACT [] synonym: "autosomal recessive spastic paraplegia type 64" EXACT [] synonym: "SPG64" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:615683 xref: ORDO:401810 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110816 name: hereditary spastic paraplegia 7 def: "A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9635427] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 7" EXACT [] synonym: "spastic paraplegia type 7" EXACT [] synonym: "SPG7" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:607259 xref: ORDO:99013 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110817 name: hereditary spastic paraplegia 72A def: "A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24388663] subset: DO_rare_slim synonym: "autosomal spastic paraplegia type 72" EXACT [] synonym: "SPG72" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:615625 xref: ORDO:401849 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110818 name: hereditary spastic paraplegia 73 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25751282] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 73" EXACT [] synonym: "autosomal dominant spastic paraplegia type 73" EXACT [] synonym: "SPG73" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:616282 xref: ORDO:444099 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110819 name: hereditary spastic paraplegia 74 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25609768] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 74" EXACT [] synonym: "SPG74" EXACT OMO:0003012 [] xref: MIM:616451 xref: ORDO:468661 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110820 name: hereditary spastic paraplegia 75 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24482476] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 75" EXACT [] synonym: "autosomal recessive spastic paraplegia type 75" EXACT [] synonym: "SPG75" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:616680 xref: ORDO:459056 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110821 name: hereditary spastic paraplegia 76 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27153400] synonym: "autosomal recessive spastic paraplegia 76" EXACT [] synonym: "SPG76" EXACT OMO:0003012 [] xref: MIM:616907 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110822 name: hereditary spastic paraplegia 77 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26553276] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 77" EXACT [] synonym: "SPG77" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:617046 xref: ORDO:466722 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110823 name: hereditary spastic paraplegia 8 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17160902] subset: DO_rare_slim synonym: "autosomal dominant spastic paraplegia 8" EXACT [] synonym: "autosomal dominant spastic paraplegia type 8" EXACT [] synonym: "SPG8" EXACT OMO:0003012 [] xref: GARD:9591 xref: ICD10CM:G11.4 xref: MIM:603563 xref: ORDO:100989 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110824 name: hereditary spastic paraplegia 9A def: "A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26026163] subset: DO_rare_slim synonym: "AD-SPG9A" EXACT OMO:0003012 [] synonym: "autosomal dominant complex spastic paraplegia type 9A" EXACT [] synonym: "autosomal dominant spastic paraplegia 9A" EXACT [] synonym: "Cataracts motor neuropathy-short stature-skeletal anomalies syndrome" EXACT [] synonym: "cataracts with motor neuronopathy, short stature and skeletal abnormalities" EXACT [] synonym: "spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux" EXACT [] synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" EXACT [] synonym: "SPG9A" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:601162 xref: ORDO:100990 xref: ORDO:447753 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110825 name: hereditary spastic paraplegia 9B def: "A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26026163] subset: DO_rare_slim synonym: "autosomal recessive complex spastic paraplegia type 9B" EXACT [] synonym: "autosomal recessive spastic paraplegia 9B" EXACT [] synonym: "SPG9B" EXACT OMO:0003012 [] xref: ICD10CM:G11.4 xref: MIM:616586 xref: ORDO:447760 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110826 name: Usher syndrome type 1 def: "An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa." [url:https\://ghr.nlm.nih.gov/condition/usher-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1265/, url:https\://www.ncbi.nlm.nih.gov/pubmed/2909824] subset: DO_rare_slim synonym: "US1" EXACT OMO:0003012 [] synonym: "USH1" EXACT OMO:0003012 [] xref: ICD10CM:H35.5 xref: MIM:276900 xref: ORDO:231169 is_a: DOID:0050439 ! Usher syndrome [Term] id: DOID:0110827 name: Usher syndrome type 2 def: "An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa." [url:https\://ghr.nlm.nih.gov/condition/usher-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1341/, url:https\://www.ncbi.nlm.nih.gov/pubmed/2909824, url:https\://www.ncbi.nlm.nih.gov/pubmed/9624053] subset: DO_rare_slim subset: NCIthesaurus synonym: "USH2" EXACT OMO:0003012 [] xref: MESH:D052245 xref: NCI:C126328 xref: ORDO:231178 xref: SNOMEDCT_US_2021_09_01:232058008 is_a: DOID:0050439 ! Usher syndrome [Term] id: DOID:0110828 name: Usher syndrome type 3 def: "An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life." [url:https\://ghr.nlm.nih.gov/condition/usher-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/2909824, url:https\://www.ncbi.nlm.nih.gov/pubmed/8864816] subset: DO_rare_slim subset: NCIthesaurus synonym: "USH3" EXACT OMO:0003012 [] xref: GARD:5442 xref: MESH:D052245 xref: NCI:C126329 xref: ORDO:231183 is_a: DOID:0050439 ! Usher syndrome [Term] id: DOID:0110829 name: retinitis pigmentosa-deafness syndrome def: "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10090882] comment: Orphanet has this as part of USH3, reference listed refers to symptoms being almost identical to USH3 but inheritance pattern is different. I made this a child of Usher Syndrome but not USH3 - smb. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:4684 xref: MESH:D052245 xref: MIM:500004 xref: NCI:C126329 xref: ORDO:231183 xref: SNOMEDCT_US_2023_03_01:1010610007 xref: UMLS_CUI:C1568248 is_a: DOID:0050439 ! Usher syndrome is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110830 name: Usher syndrome type 1C def: "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10973247] synonym: "USH1C" EXACT OMO:0003012 [] synonym: "Usher syndrome type I Acadian variety" EXACT [] synonym: "Usher syndrome type IC" EXACT [] xref: ICD10CM:H35.5 xref: MIM:276904 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110831 name: Usher syndrome type 1D def: "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11138009] synonym: "USH1D" EXACT OMO:0003012 [] synonym: "Usher syndrome type ID" EXACT [] xref: ICD10CM:H35.5 xref: MIM:601067 is_a: DOID:0080578 ! digenic disease is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110832 name: Usher syndrome type 1F def: "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11398101] synonym: "USH1F" EXACT OMO:0003012 [] synonym: "Usher syndrome type IF" EXACT [] xref: ICD10CM:H35.5 xref: MIM:602083 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110833 name: Usher syndrome type 1E def: "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9002666] synonym: "USH1E" EXACT OMO:0003012 [] synonym: "Usher syndrome type IE" EXACT [] xref: ICD10CM:H35.5 xref: MIM:602097 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110834 name: Usher syndrome type 1G def: "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12588794] synonym: "USH1G" EXACT OMO:0003012 [] synonym: "Usher syndrome type IG" EXACT [] xref: ICD10CM:H35.5 xref: MIM:606943 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110835 name: Usher syndrome type 1H def: "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18505454] synonym: "USH1H" EXACT OMO:0003012 [] synonym: "Usher syndrome type IH" EXACT [] xref: ICD10CM:H35.5 xref: MIM:612632 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110836 name: Usher syndrome type 1J def: "An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23023331] synonym: "USH1J" EXACT OMO:0003012 [] synonym: "Usher syndrome type IJ" EXACT [] xref: ICD10CM:H35.5 xref: MIM:614869 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110837 name: Usher syndrome type 1K def: "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22718019] synonym: "USH1K" EXACT OMO:0003012 [] synonym: "Usher syndrome type IK" EXACT [] xref: ICD10CM:H35.5 xref: MIM:614990 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110838 name: Usher syndrome type 2A def: "An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9624053] subset: DO_rare_slim synonym: "USH2A" EXACT OMO:0003012 [] synonym: "Usher syndrome type IIA" EXACT [] xref: GARD:5440 xref: ICD10CM:H35.5 xref: MIM:276901 is_a: DOID:0110827 ! Usher syndrome type 2 [Term] id: DOID:0110839 name: Usher syndrome type 2C def: "An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14740321] synonym: "USH2C" EXACT OMO:0003012 [] synonym: "Usher syndrome IIC" EXACT [] synonym: "Usher syndrome type IIC" EXACT [] xref: ICD10CM:H35.5 xref: MIM:605472 is_a: DOID:0080578 ! digenic disease is_a: DOID:0110827 ! Usher syndrome type 2 [Term] id: DOID:0110840 name: Usher syndrome type 2D def: "An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17171570] synonym: "USH2D" EXACT OMO:0003012 [] synonym: "Usher syndrome type IID" EXACT [] xref: ICD10CM:H35.5 xref: MIM:611383 is_a: DOID:0110827 ! Usher syndrome type 2 [Term] id: DOID:0110841 name: Usher syndrome type 3A def: "An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11524702] synonym: "USH3A" EXACT OMO:0003012 [] synonym: "Usher syndrome type IIIA" EXACT [] xref: ICD10CM:H35.5 xref: MIM:276902 is_a: DOID:0110828 ! Usher syndrome type 3 disjoint_from: DOID:0110842 ! Usher syndrome type 3B [Term] id: DOID:0110842 name: Usher syndrome type 3B def: "An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22279524] synonym: "USH3B" EXACT OMO:0003012 [] synonym: "Usher syndrome type IIIB" EXACT [] xref: ICD10CM:H35.5 xref: MIM:614504 is_a: DOID:0110828 ! Usher syndrome type 3 [Term] id: DOID:0110843 name: xeroderma pigmentosum group A def: "A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2168777, url:https\://www.ncbi.nlm.nih.gov/pubmed/2234061] synonym: "xeroderma pigmentosum 1" EXACT [] synonym: "xeroderma pigmentosum complementation group A" EXACT [] synonym: "XP group A" EXACT [] synonym: "XP1" EXACT OMO:0003012 [] synonym: "XPA" EXACT OMO:0003012 [] xref: ICD10CM:Q82.1 xref: MIM:278700 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110844 name: xeroderma pigmentosum group C def: "A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6696469, url:https\://www.ncbi.nlm.nih.gov/pubmed/8298653] synonym: "xeroderma pigmentosum III" EXACT [] synonym: "XP group C" EXACT [] synonym: "XP3" EXACT OMO:0003012 [] synonym: "XPC" EXACT OMO:0003012 [] synonym: "XPCC" EXACT OMO:0003012 [] xref: ICD10CM:Q82.1 xref: MIM:278720 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110845 name: xeroderma pigmentosum group D def: "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7849702] synonym: "xeroderma pigmentosum IV" EXACT [] synonym: "xeroderma pigmentosum VIII" EXACT [] synonym: "XP group D" EXACT [] synonym: "XP group H" EXACT [] synonym: "XP4" EXACT OMO:0003012 [] synonym: "XP8" EXACT OMO:0003012 [] synonym: "XPD" EXACT OMO:0003012 [] synonym: "XPDC" EXACT OMO:0003012 [] synonym: "XPH" EXACT OMO:0003012 [] xref: ICD10CM:Q82.1 xref: MIM:278730 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110846 name: xeroderma pigmentosum group E def: "A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3339259, url:https\://www.ncbi.nlm.nih.gov/pubmed/8798680] synonym: "xeroderma pigmentosum V" EXACT [] synonym: "XP group E" EXACT [] synonym: "XP5" EXACT OMO:0003012 [] synonym: "XPE" EXACT OMO:0003012 [] xref: ICD10CM:Q82.1 xref: MIM:278740 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110847 name: xeroderma pigmentosum variant type def: "A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10385124, url:https\://www.ncbi.nlm.nih.gov/pubmed/1054497] subset: DO_rare_slim synonym: "photosensitivity with defective DNA synthesis" EXACT [] synonym: "xeroderma pigmentosum with normal DNA repair rates" EXACT [] synonym: "XPV" EXACT OMO:0003012 [] xref: GARD:5630 xref: ICD10CM:Q82.1 xref: MESH:C536766 xref: MIM:278750 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110848 name: xeroderma pigmentosum group F def: "A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23623389, url:https\://www.ncbi.nlm.nih.gov/pubmed/8797827] synonym: "xeroderma pigmentosum VI" EXACT [] synonym: "XP group F" EXACT [] synonym: "XP6" EXACT OMO:0003012 [] synonym: "XPF" EXACT OMO:0003012 [] xref: ICD10CM:Q82.1 xref: MIM:278760 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110849 name: xeroderma pigmentosum group G def: "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11841555] synonym: "xeroderma pigmentosum VII" EXACT [] synonym: "XP group G" EXACT [] synonym: "XP7" EXACT OMO:0003012 [] synonym: "XPG" EXACT OMO:0003012 [] xref: ICD10CM:Q82.1 xref: MIM:278780 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110850 name: xeroderma pigmentosum group B def: "A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16947863] synonym: "XP group B" EXACT [] synonym: "XPB" EXACT OMO:0003012 [] synonym: "XPBC" EXACT OMO:0003012 [] xref: ICD10CM:Q82.1 xref: MIM:610651 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110851 name: rhizomelic chondrodysplasia punctata type 1 def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15679822] subset: DO_rare_slim synonym: "PBD9" EXACT OMO:0003012 [] synonym: "Peroxisome Biogenesis Disorder 9" EXACT [] synonym: "RCDP1" EXACT OMO:0003012 [] xref: GARD:6049 xref: ICD10CM:Q77.3 xref: MIM:215100 xref: ORDO:309789 is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata [Term] id: DOID:0110852 name: rhizomelic chondrodysplasia punctata type 2 def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1405476] subset: DO_rare_slim synonym: "Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency" EXACT [] synonym: "DHAPAT deficiency" EXACT [] synonym: "Dihydroxyacetonephosphate Acyltransferase Deficiency" EXACT [] synonym: "Glyceronephosphate O-Acyltransferase Deficiency" EXACT [] synonym: "GNPAT deficiency" EXACT [] synonym: "Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency" EXACT [] synonym: "RCDP2" EXACT OMO:0003012 [] xref: ICD10CM:Q77.3 xref: MESH:C537607 xref: MIM:222765 xref: ORDO:309796 is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata [Term] id: DOID:0110853 name: rhizomelic chondrodysplasia punctata type 3 def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22871920] subset: DO_rare_slim synonym: "AGPS deficiency" EXACT [] synonym: "Alkyldihydroxyacetonephosphate Synthase Deficiency" EXACT [] synonym: "Alkylglycerone-Phosphate Synthase Deficiency" EXACT [] synonym: "RCDP3" EXACT OMO:0003012 [] xref: ICD10CM:Q77.3 xref: MESH:C537608 xref: MIM:600121 xref: ORDO:309803 is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata [Term] id: DOID:0110854 name: rhizomelic chondrodysplasia punctata type 5 def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26220973] subset: DO_rare_slim synonym: "RCDP5" EXACT OMO:0003012 [] xref: MIM:616716 xref: ORDO:468717 is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata [Term] id: DOID:0110855 name: posterior polymorphous corneal dystrophy 1 def: "A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26749309] synonym: "CHED1" EXACT OMO:0003012 [] synonym: "Corneal Endothelial Dystrophy 1, Autosomal Dominant" EXACT [] synonym: "Maumenee Corneal Dystrophy" EXACT [] synonym: "PPCD1" EXACT OMO:0003012 [] xref: ICD10CM:H18.50 xref: MIM:122000 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy [Term] id: DOID:0110856 name: posterior polymorphous corneal dystrophy 2 def: "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11689488] synonym: "PPCD2" EXACT OMO:0003012 [] xref: ICD10CM:H18.50 xref: MIM:609140 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy [Term] id: DOID:0110857 name: posterior polymorphous corneal dystrophy 3 def: "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16252232] synonym: "PPCD3" EXACT OMO:0003012 [] xref: ICD10CM:H18.50 xref: MIM:609141 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy [Term] id: DOID:0110858 name: polycystic kidney disease 1 def: "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9650770] synonym: "APKD1" EXACT OMO:0003012 [] synonym: "PKD1" EXACT OMO:0003012 [] synonym: "Polycystic Kidney Disease, Adult, Type I" EXACT [] xref: MIM:173900 is_a: DOID:898 ! autosomal dominant polycystic kidney disease [Term] id: DOID:0110859 name: polycystic kidney disease 2 def: "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7825585] synonym: "APKD2" EXACT OMO:0003012 [] synonym: "PKD2" EXACT OMO:0003012 [] synonym: "Polycystic Kidney Disease, Adult, Type II" EXACT [] xref: MIM:613095 is_a: DOID:898 ! autosomal dominant polycystic kidney disease [Term] id: DOID:0110860 name: polycystic kidney disease 3 def: "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27259053] synonym: "APKD3" EXACT OMO:0003012 [] synonym: "PKD3" EXACT OMO:0003012 [] synonym: "Polycystic Kidney Disease, Adult, Type III" EXACT [] xref: MIM:600666 is_a: DOID:898 ! autosomal dominant polycystic kidney disease [Term] id: DOID:0110861 name: autosomal recessive polycystic kidney disease def: "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion." [url:https\://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease] subset: DO_rare_slim subset: NCIthesaurus synonym: "AR-PKD" EXACT OMO:0003012 [] xref: GARD:8378 xref: ICD10CM:Q61.1 xref: ICD9CM:753.14 xref: MESH:D017044 xref: NCI:C84579 xref: ORDO:731 xref: SNOMEDCT_US_2023_03_01:28770003 xref: UMLS_CUI:C0085548 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080322 ! polycystic kidney disease [Term] id: DOID:0110862 name: congenital stationary night blindness autosomal dominant 1 def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7846071] synonym: "CSNBAD1" EXACT OMO:0003012 [] synonym: "rhodopsin-related congenital stationary night blindness" EXACT [] xref: MIM:610445 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110863 name: congenital stationary night blindness autosomal dominant 2 def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8075643] synonym: "CSNBAD2" EXACT OMO:0003012 [] synonym: "Rambusch type congenital stationary night blindness" EXACT [] xref: MIM:163500 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110864 name: congenital stationary night blindness 1F def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23246293] synonym: "congenital stationary night blindness 1F autosomal recessive" EXACT [] synonym: "CSNB1F" EXACT OMO:0003012 [] xref: MIM:615058 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110865 name: congenital stationary night blindness 1B def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15781871] synonym: "autosomal recessive complete congenital stationary night blindness" EXACT [] synonym: "congenital stationary night blindness 1B autosomal recessive" EXACT [] synonym: "CSNB1B" EXACT OMO:0003012 [] xref: MIM:257270 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110866 name: congenital stationary night blindness 1H def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27063057] synonym: "congenital stationary night blindness type 1H" EXACT [] synonym: "CSNB1H" EXACT OMO:0003012 [] xref: MIM:617024 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110867 name: congenital stationary night blindness 1C def: "A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19878917] synonym: "congenital stationary night blindness 1C autosomal recessive" EXACT [] synonym: "CSNB1C" EXACT OMO:0003012 [] xref: MIM:613216 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110868 name: congenital stationary night blindness 1D def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20850105] synonym: "congenital stationary night blindness 1D autosomal recessive" EXACT [] synonym: "CSNB1D" EXACT OMO:0003012 [] xref: MIM:613830 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110869 name: congenital stationary night blindness 1E def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22325361] synonym: "congenital stationary night blindness 1E autosomal recessive" EXACT [] synonym: "CSNB1E" EXACT OMO:0003012 [] xref: MIM:614565 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110870 name: congenital stationary night blindness 1A def: "A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9662400] synonym: "complete CSNB X-linked" EXACT [] synonym: "congenital stationary night blindness 1A X-linked" EXACT [] synonym: "congenital stationary night blindness with myopia" EXACT [] synonym: "CSNB1A" EXACT OMO:0003012 [] synonym: "hemeralopia-myopia" EXACT [] synonym: "myopia-night blindness" EXACT [] synonym: "NBMI" EXACT OMO:0003012 [] xref: MIM:310500 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0110871 name: congenital stationary night blindness 2A def: "A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9662399] synonym: "congenital stationary night blindness 2A X-linked" EXACT [] xref: MIM:300071 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0110872 name: holoprosencephaly 2 def: "A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10369266] synonym: "HPE2" EXACT OMO:0003012 [] xref: MESH:C563579 xref: MIM:157170 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110873 name: holoprosencephaly 9 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14581620] synonym: "holoprosencephaly with microphthalmia and first branchial arch anomalies" EXACT [] synonym: "HPE9" EXACT OMO:0003012 [] synonym: "pituitary anomalies with holoprosencephaly-like features" EXACT [] xref: MESH:C563659 xref: MIM:610829 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110874 name: holoprosencephaly 6 def: "A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11343300] synonym: "HPE6" EXACT OMO:0003012 [] xref: MESH:C565274 xref: MIM:605934 is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110875 name: holoprosencephaly 3 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8896572] synonym: "HLP3" EXACT OMO:0003012 [] synonym: "HPE3" EXACT OMO:0003012 [] xref: MESH:C564181 xref: MIM:142945 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110876 name: holoprosencephaly 7 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11941477] synonym: "HPE7" EXACT OMO:0003012 [] xref: MESH:C563660 xref: MIM:610828 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110877 name: holoprosencephaly 11 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21802063] synonym: "HPE11" EXACT OMO:0003012 [] xref: MIM:614226 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110878 name: holoprosencephaly 5 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9771712] synonym: "HPE5" EXACT OMO:0003012 [] xref: MESH:C566464 xref: MIM:609637 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110879 name: holoprosencephaly 8 def: "A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15820313] synonym: "HPE8" EXACT OMO:0003012 [] xref: MESH:C563723 xref: MIM:609408 is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110880 name: holoprosencephaly 4 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10835638, url:https\://www.ncbi.nlm.nih.gov/pubmed/16323008] synonym: "HPE4" EXACT OMO:0003012 [] xref: MESH:C564180 xref: MIM:142946 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110881 name: holoprosencephaly 1 def: "A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7485157] synonym: "HPE1" EXACT OMO:0003012 [] xref: MIM:236100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110882 name: inflammatory bowel disease 7 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19122664] synonym: "IBD7" EXACT OMO:0003012 [] xref: MESH:C565353 xref: MIM:605225 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110883 name: inflammatory bowel disease 17 def: "An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17068223] synonym: "IBD17" EXACT OMO:0003012 [] xref: MESH:C567378 xref: MIM:612261 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110884 name: inflammatory bowel disease 23 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15937090, url:https\://www.ncbi.nlm.nih.gov/pubmed/18587394] synonym: "IBD23" EXACT OMO:0003012 [] xref: MESH:C567326 xref: MIM:612381 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110885 name: inflammatory bowel disease 10 def: "An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18852889] synonym: "IBD10" EXACT OMO:0003012 [] synonym: "inflammatory bowel disease (Crohn disease) 10" EXACT [] xref: MESH:C567021 xref: MIM:611081 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110886 name: inflammatory bowel disease 9 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12354785] synonym: "IBD9" EXACT OMO:0003012 [] xref: MESH:C563926 xref: MIM:608448 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110887 name: inflammatory bowel disease 12 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17804789] synonym: "IBD12" EXACT OMO:0003012 [] xref: MESH:C567388 xref: MIM:612241 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110888 name: inflammatory bowel disease 18 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17447842] synonym: "IBD18" EXACT OMO:0003012 [] xref: MESH:C567377 xref: MIM:612262 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110889 name: inflammatory bowel disease 5 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11586304] synonym: "IBD5" EXACT OMO:0003012 [] xref: MESH:C565234 xref: MIM:606348 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110890 name: inflammatory bowel disease 19 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17554261] synonym: "IBD19" EXACT OMO:0003012 [] synonym: "inflammatory bowel disease (Crohn disease) 19" EXACT [] xref: MESH:C567372 xref: MIM:612278 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110891 name: inflammatory bowel disease 3 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10577918] synonym: "IBD3" EXACT OMO:0003012 [] xref: MESH:C565764 xref: MIM:604519 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110892 name: inflammatory bowel disease 1 def: "An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11385576] synonym: "IBD1" EXACT OMO:0003012 [] xref: MIM:266600 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110893 name: inflammatory bowel disease 13 def: "An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14610718] synonym: "IBD13" EXACT OMO:0003012 [] xref: MESH:C567384 xref: MIM:612244 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110894 name: inflammatory bowel disease 11 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8841195] synonym: "IBD11" EXACT OMO:0003012 [] xref: MESH:C567154 xref: MIM:191390 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110895 name: inflammatory bowel disease 14 def: "An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17881657] synonym: "IBD14" EXACT OMO:0003012 [] xref: MESH:C567383 xref: MIM:612245 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110896 name: inflammatory bowel disease 16 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18587394] synonym: "IBD16" EXACT OMO:0003012 [] xref: MESH:C567380 xref: MIM:612259 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110897 name: inflammatory bowel disease 15 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18438406] synonym: "IBD15" EXACT OMO:0003012 [] xref: MESH:C567381 xref: MIM:612255 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110898 name: inflammatory bowel disease 20 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10053016] synonym: "IBD20" EXACT OMO:0003012 [] xref: MESH:C567361 xref: MIM:612288 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110899 name: inflammatory bowel disease 28 def: "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19890111, url:https\://www.ncbi.nlm.nih.gov/pubmed/22476154] synonym: "early onset autosomal recessive inflammatory bowel disease 28" EXACT [] synonym: "IBD28" EXACT OMO:0003012 [] xref: MIM:613148 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110900 name: inflammatory bowel disease 2 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8841195] synonym: "IBD2" EXACT OMO:0003012 [] xref: MESH:C563310 xref: MIM:601458 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110901 name: inflammatory bowel disease 26 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19122664] synonym: "IBD26" EXACT OMO:0003012 [] xref: MESH:C567217 xref: MIM:612639 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110902 name: inflammatory bowel disease 27 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18246054] synonym: "IBD27" EXACT OMO:0003012 [] xref: MESH:C567559 xref: MIM:612796 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110903 name: inflammatory bowel disease 4 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10747815] synonym: "IBD4" EXACT OMO:0003012 [] xref: MESH:C564680 xref: MIM:606675 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110904 name: inflammatory bowel disease 8 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11752413] synonym: "IBD8" EXACT OMO:0003012 [] xref: MESH:C564682 xref: MIM:606668 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110905 name: inflammatory bowel disease 22 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18438405] synonym: "IBD22" EXACT OMO:0003012 [] xref: MESH:C567327 xref: MIM:612380 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110906 name: inflammatory bowel disease 21 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17554261] synonym: "IBD21" EXACT OMO:0003012 [] xref: MESH:C567338 xref: MIM:612354 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110907 name: inflammatory bowel disease 6 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10777714] synonym: "IBD6" EXACT OMO:0003012 [] xref: MESH:C564681 xref: MIM:606674 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110908 name: inflammatory bowel disease 24 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18758464] synonym: "IBD24" EXACT OMO:0003012 [] xref: MESH:C567252 xref: MIM:612566 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110909 name: inflammatory bowel disease 25 def: "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19890111] synonym: "early onset autosomal recessive inflammatory bowel disease 25" EXACT [] synonym: "IBD25" EXACT OMO:0003012 [] xref: MIM:612567 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110910 name: leukocyte adhesion deficiency 1 def: "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6361068] subset: DO_rare_slim synonym: "LAD1" EXACT OMO:0003012 [] synonym: "leukocyte adhesion deficiency type I" EXACT [] synonym: "LFA1 immunodeficiency" EXACT [] synonym: "lymphocyte function-associated antigen 1 immunodeficiency" EXACT [] xref: MIM:116920 xref: ORDO:99842 is_a: DOID:6612 ! leukocyte adhesion deficiency [Term] id: DOID:0110912 name: leukocyte adhesion deficiency 3 def: "A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12." [url:https\://www.ncbi.nlm.nih.gov/books/NBK539770/, url:https\://www.ncbi.nlm.nih.gov/pubmed/19234463, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99844] subset: DO_rare_slim synonym: "IADD" EXACT OMO:0003012 [] synonym: "integrin activation deficiency disease" EXACT [] synonym: "LAD1 variant" EXACT [] synonym: "LAD1V" EXACT OMO:0003012 [] synonym: "LAD3" EXACT OMO:0003012 [] synonym: "leukocyte adhesion deficiency 1 variant" EXACT [] synonym: "leukocyte adhesion deficiency type III" EXACT [] xref: MIM:612840 xref: ORDO:99844 is_a: DOID:6612 ! leukocyte adhesion deficiency [Term] id: DOID:0110913 name: adult hypophosphatasia def: "A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1409720] subset: DO_rare_slim synonym: "mild hypophosphatasia" EXACT [] xref: MIM:146300 xref: ORDO:247676 is_a: DOID:14213 ! hypophosphatasia [Term] id: DOID:0110914 name: infantile hypophosphatasia def: "A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1689104] subset: DO_rare_slim synonym: "HOPS" EXACT OMO:0003012 [] synonym: "HPPI" EXACT OMO:0003012 [] synonym: "phosphoethanolaminuria" EXACT [] xref: MIM:241500 xref: ORDO:247651 is_a: DOID:14213 ! hypophosphatasia [Term] id: DOID:0110915 name: childhood hypophosphatasia def: "A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1409720] subset: DO_rare_slim xref: GARD:8735 xref: MIM:241510 xref: ORDO:247667 is_a: DOID:14213 ! hypophosphatasia [Term] id: DOID:0110916 name: hereditary spherocytosis type 1 def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2675425] synonym: "hereditary spherocytosis 1" EXACT [] synonym: "HS1" EXACT OMO:0003012 [] synonym: "SPH1" EXACT OMO:0003012 [] xref: MIM:182900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12971 ! hereditary spherocytosis [Term] id: DOID:0110917 name: hereditary spherocytosis type 2 def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8102379] synonym: "hereditary spherocytosis 2" EXACT [] synonym: "HS2" EXACT OMO:0003012 [] synonym: "SPH2" EXACT OMO:0003012 [] xref: MIM:616649 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12971 ! hereditary spherocytosis [Term] id: DOID:0110918 name: hereditary spherocytosis type 3 def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8941647] synonym: "hereditary spherocytosis 3" EXACT [] synonym: "HS3" EXACT OMO:0003012 [] synonym: "SPH3" EXACT OMO:0003012 [] xref: MIM:270970 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12971 ! hereditary spherocytosis [Term] id: DOID:0110919 name: hereditary spherocytosis type 4 def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7530501] synonym: "hereditary spherocytosis 4" EXACT [] synonym: "HS4" EXACT OMO:0003012 [] synonym: "SPH4" EXACT OMO:0003012 [] xref: MIM:612653 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12971 ! hereditary spherocytosis [Term] id: DOID:0110920 name: hereditary spherocytosis type 5 def: "A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1558976] synonym: "hereditary spherocytosis 5" EXACT [] synonym: "HS5" EXACT OMO:0003012 [] synonym: "SPH5" EXACT OMO:0003012 [] xref: MIM:612690 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12971 ! hereditary spherocytosis [Term] id: DOID:0110921 name: familial hemophagocytic lymphohistiocytosis 1 def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9915955] synonym: "FHL1" EXACT OMO:0003012 [] synonym: "HLH1" EXACT OMO:0003012 [] synonym: "HPLH1" EXACT OMO:0003012 [] xref: MIM:267700 is_a: DOID:0050120 ! hemophagocytic lymphohistiocytosis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110922 name: familial hemophagocytic lymphohistiocytosis 2 def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10583959] subset: DO_rare_slim synonym: "FHL2" EXACT OMO:0003012 [] synonym: "HLH2" EXACT OMO:0003012 [] synonym: "HPLH2" EXACT OMO:0003012 [] xref: GARD:9922 xref: MIM:603553 is_a: DOID:0050120 ! hemophagocytic lymphohistiocytosis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110923 name: familial hemophagocytic lymphohistiocytosis 3 def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14622600] subset: DO_rare_slim synonym: "FHL3" EXACT OMO:0003012 [] synonym: "HLH3" EXACT OMO:0003012 [] synonym: "HPLH3" EXACT OMO:0003012 [] xref: GARD:9928 xref: MIM:608898 is_a: DOID:0050120 ! hemophagocytic lymphohistiocytosis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110924 name: familial hemophagocytic lymphohistiocytosis 4 def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15703195] subset: DO_rare_slim synonym: "FHL4" EXACT OMO:0003012 [] synonym: "HLH4" EXACT OMO:0003012 [] synonym: "HPLH4" EXACT OMO:0003012 [] xref: GARD:9929 xref: MIM:603552 is_a: DOID:0050120 ! hemophagocytic lymphohistiocytosis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110925 name: familial hemophagocytic lymphohistiocytosis 5 def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19804848] synonym: "FHL5" EXACT OMO:0003012 [] synonym: "HLH5" EXACT OMO:0003012 [] synonym: "HPLH5" EXACT OMO:0003012 [] xref: MIM:613101 is_a: DOID:0050120 ! hemophagocytic lymphohistiocytosis is_a: DOID:0050177 ! monogenic disease [Term] id: DOID:0110926 name: nemaline myopathy 1 def: "A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10619715, url:https\://www.ncbi.nlm.nih.gov/pubmed/24095155, url:https\://www.ncbi.nlm.nih.gov/pubmed/7704029] synonym: "congenital myopathy 4B" EXACT [] synonym: "NEM1" EXACT OMO:0003012 [] synonym: "nemaline myopathy 1, autosomal dominant or recessive" EXACT [] xref: MESH:C538348 xref: MIM:609284 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy disjoint_from: DOID:0110927 ! nemaline myopathy 3 [Term] id: DOID:0110927 name: nemaline myopathy 3 def: "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10508519, url:https\://www.ncbi.nlm.nih.gov/pubmed/11333380] synonym: "congenital myopathy 2A" EXACT [] synonym: "NEM3" EXACT OMO:0003012 [] synonym: "nemaline myopathy 3, autosomal dominant or recessive" EXACT [] xref: MIM:161800 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110928 name: nemaline myopathy 2 def: "A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10051637, url:https\://www.ncbi.nlm.nih.gov/pubmed/15221447] synonym: "congenital myopathy 2" EXACT [] synonym: "NEM2" EXACT OMO:0003012 [] synonym: "nemaline myopathy 2, autosomal recessive" EXACT [] xref: MESH:C538349 xref: MIM:256030 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110929 name: nemaline myopathy 9 def: "A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24268659] synonym: "NEM9" EXACT OMO:0003012 [] xref: MIM:615731 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110930 name: nemaline myopathy 8 def: "A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23746549] synonym: "NEM8" EXACT OMO:0003012 [] synonym: "nemaline myopathy 8, autosomal recessive" EXACT [] xref: MIM:615348 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110931 name: nemaline myopathy 10 def: "A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25250574] synonym: "congenital myopathy 10" EXACT [] synonym: "NEM10" EXACT OMO:0003012 [] xref: MIM:616165 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110932 name: nemaline myopathy 4 def: "A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11738357] synonym: "CAP myopathy 2" EXACT [] synonym: "NEM4" EXACT OMO:0003012 [] synonym: "nemaline myopathy 4, autosomal dominant" EXACT [] xref: MESH:C538351 xref: MIM:609285 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110933 name: nemaline myopathy 11 def: "A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28017374] synonym: "NEM11" EXACT OMO:0003012 [] synonym: "nemaline myopathy 11, autosomal recessive" EXACT [] xref: MIM:617336 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110934 name: nemaline myopathy 7 def: "A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17160903, url:https\://www.ncbi.nlm.nih.gov/pubmed/22560515] synonym: "NEM7" EXACT OMO:0003012 [] synonym: "nemaline myopathy 7, autosomal recessive" EXACT [] xref: MESH:C565198 xref: MIM:610687 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110935 name: nemaline myopathy 6 def: "A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21109227] synonym: "nemaline myopathy 6, autosomal dominant" EXACT [] xref: MESH:C538398 xref: MIM:609273 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110936 name: nemaline myopathy 5A def: "A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10952871] subset: DO_rare_slim synonym: "Amish nemaline myopathy" EXACT [] synonym: "ANM" EXACT OMO:0003012 [] synonym: "NEM5" EXACT OMO:0003012 [] synonym: "nemaline myopathy 5, Amish type" EXACT [] xref: GARD:8334 xref: MESH:C538397 xref: MIM:605355 xref: ORDO:98902 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110937 name: autosomal dominant osteopetrosis 1 def: "An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12579474, url:https\://www.ncbi.nlm.nih.gov/pubmed/3377922] subset: DO_rare_slim synonym: "autosomal dominant osteopetrosis type 1" EXACT [] synonym: "OPTA1" EXACT OMO:0003012 [] xref: MESH:C536056 xref: MIM:607634 xref: ORDO:2783 xref: UMLS_CUI:C1843330 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13533 ! osteopetrosis disjoint_from: DOID:0110938 ! autosomal dominant osteopetrosis 2 [Term] id: DOID:0110938 name: autosomal dominant osteopetrosis 2 def: "An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11741829, url:https\://www.ncbi.nlm.nih.gov/pubmed/3588909] subset: DO_rare_slim synonym: "Albers-Schonberg osteopetrosis" EXACT [] synonym: "autosomal dominant Albers-Schonberg disease" EXACT [] synonym: "autosomal dominant osteopetrosis type II" EXACT [] synonym: "OPTA2" EXACT OMO:0003012 [] synonym: "osteopetrosis autosomal dominant type 2" EXACT [] xref: GARD:383 xref: MESH:D010022 xref: MIM:166600 xref: ORDO:53 xref: SNOMEDCT_US_2023_03_01:725050005 xref: UMLS_CUI:C3179239 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060564 ! spinal disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110939 name: autosomal recessive osteopetrosis 5 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12627228] subset: DO_rare_slim synonym: "infantile malignant osteopetrosis 3" EXACT [] synonym: "OPTB5" EXACT OMO:0003012 [] xref: GARD:4153 xref: MIM:259720 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110940 name: autosomal recessive osteopetrosis 8 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22499339] synonym: "OPTB8" EXACT OMO:0003012 [] xref: MIM:615085 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110941 name: autosomal recessive osteopetrosis 3 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1928091] subset: DO_rare_slim synonym: "autosomal recessive osteopetrosis 3 with renal tubular acidosis" EXACT [] synonym: "carbonic anhydrase II deficiency" EXACT [] synonym: "Guibaud-Vainsel syndrome" EXACT [] synonym: "marble brain disease" EXACT [] synonym: "OPTB3" EXACT OMO:0003012 [] synonym: "osteopetrosis with renal tubular acidosis" EXACT [] xref: GARD:4154 xref: MIM:259730 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110942 name: autosomal recessive osteopetrosis 1 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10888887] subset: DO_rare_slim synonym: "autosomal recessive Albers-Schonberg disease" EXACT [] synonym: "infantile malignant osteopetrosis 1" EXACT [] synonym: "OPTB1" EXACT OMO:0003012 [] xref: GARD:2579 xref: MIM:259700 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110943 name: autosomal recessive osteopetrosis 2 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17632511] subset: DO_rare_slim synonym: "mild autosomal recessive form osteopetrosis" EXACT [] synonym: "OPTB2" EXACT OMO:0003012 [] synonym: "osteoclast-poor osteopetrosis" EXACT [] xref: GARD:4157 xref: MIM:259710 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110944 name: autosomal recessive osteopetrosis 4 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11207362] subset: DO_rare_slim synonym: "infantile malignant osteopetrosis 2" EXACT [] synonym: "OPTB4" EXACT OMO:0003012 [] xref: GARD:5993 xref: MIM:611490 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110945 name: autosomal recessive osteopetrosis 6 def: "An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17404618] subset: DO_rare_slim synonym: "autosomal recessive osteopetrosis intermediate form" EXACT [] synonym: "OPTB6" EXACT OMO:0003012 [] xref: GARD:4156 xref: MIM:611497 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110946 name: autosomal recessive osteopetrosis 7 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18606301] subset: DO_rare_slim synonym: "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT [] synonym: "autosomal recessive osteopetrosis type 7" EXACT [] synonym: "OPTB7" EXACT OMO:0003012 [] synonym: "osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT [] synonym: "osteopetrosis-hypogammaglobulinemia syndrome" EXACT [] xref: GARD:10106 xref: ICD10CM:Q78.2 xref: MIM:612301 xref: ORDO:178389 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110947 name: Waardenburg syndrome type 2B def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20127975, url:https\://www.ncbi.nlm.nih.gov/pubmed/7951321] subset: DO_rare_slim synonym: "Waardenburg syndrome type IIB" EXACT [] synonym: "WS2B" EXACT OMO:0003012 [] xref: GARD:5522 xref: MESH:C536465 xref: MIM:600193 is_a: DOID:9258 ! Waardenburg syndrome disjoint_from: DOID:0110948 ! Waardenburg syndrome type 1 [Term] id: DOID:0110948 name: Waardenburg syndrome type 1 def: "A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1347148, url:https\://www.ncbi.nlm.nih.gov/pubmed/20127975] subset: DO_rare_slim subset: NCIthesaurus synonym: "Waardenburg syndrome type I" EXACT [] synonym: "WS1" EXACT OMO:0003012 [] xref: MESH:D014849 xref: MIM:193500 xref: NCI:C75008 xref: ORDO:894 xref: SNOMEDCT_US_2023_03_01:1010606009 xref: UMLS_CUI:C1847800 is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:0110949 name: Waardenburg syndrome type 3 def: "A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20127975, url:https\://www.ncbi.nlm.nih.gov/pubmed/8447316] subset: DO_rare_slim synonym: "Klein-Waardenburg syndrome" EXACT [] synonym: "Waardenburg syndrome type III" EXACT [] synonym: "Waardenburg syndrome with upper limb anomalies" EXACT [] synonym: "WS3" EXACT OMO:0003012 [] xref: GARD:5523 xref: ICD10CM:E70.3 xref: MIM:148820 xref: ORDO:896 is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:0110950 name: Waardenburg syndrome type 2A def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20127975, url:https\://www.ncbi.nlm.nih.gov/pubmed/7874167] subset: DO_rare_slim synonym: "Waardenburg syndrome type IIA" EXACT [] synonym: "WS2A" EXACT OMO:0003012 [] xref: GARD:5521 xref: MESH:C536464 xref: MIM:193510 is_a: DOID:0080578 ! digenic disease is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:0110951 name: Waardenburg syndrome type 2C def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11810298, url:https\://www.ncbi.nlm.nih.gov/pubmed/20127975] synonym: "Waardenburg syndrome type IIC" EXACT [] synonym: "WS2C" EXACT OMO:0003012 [] xref: MIM:606662 is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:0110952 name: obsolete Waardenburg syndrome type 2D def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11." [url:https\://pubmed.ncbi.nlm.nih.gov/32975012/, url:https\://www.ncbi.nlm.nih.gov/pubmed/12444107, url:https\://www.ncbi.nlm.nih.gov/pubmed/20127975] comment: Obsoleted because the relevant SNAI2 variant has been reclassified as a variant of unknown significance (see PMID:32975012). synonym: "Waardenburg syndrome type IID" EXACT [] synonym: "WS2D" EXACT [] xref: MIM:608890 is_obsolete: true [Term] id: DOID:0110953 name: Waardenburg syndrome type 4A def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8001158] synonym: "Waardenburg syndrome type IVA" EXACT [] synonym: "Waardenburg syndrome with Hirschsprung disease type 4A" EXACT [] synonym: "WS4A" EXACT OMO:0003012 [] xref: MIM:277580 is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:0110954 name: Waardenburg syndrome type 4B def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8630502] synonym: "Waardenburg syndrome type IVB" EXACT [] synonym: "Waardenburg syndrome with Hirschsprung disease type 4B" EXACT [] synonym: "WS4B" EXACT OMO:0003012 [] xref: MIM:613265 is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:0110955 name: Waardenburg syndrome type 4C def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9462749] synonym: "Waardenburg syndrome type IVC" EXACT [] synonym: "Waardenburg syndrome with Hirschsprung disease type 4C" EXACT [] synonym: "WS4C" EXACT OMO:0003012 [] xref: MIM:613266 is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:0110956 name: Waardenburg syndrome type 2E def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10441344, url:https\://www.ncbi.nlm.nih.gov/pubmed/20127975] synonym: "hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation" EXACT [] synonym: "Waardenburg syndrome type 2E with or without neurologic involvement" EXACT [] synonym: "Waardenburg syndrome type IIE" EXACT [] synonym: "WS2E" EXACT OMO:0003012 [] synonym: "WS2E with or without neurological involvement" EXACT [] xref: MIM:611584 is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:0110957 name: Gaucher's disease type I def: "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1897529] subset: DO_rare_slim synonym: "Acid Beta-Glucosidase Deficiency" EXACT [] synonym: "Gaucher Disease, Noncerebral Juvenile" EXACT [] synonym: "Gba Deficiency" EXACT [] synonym: "GD I" EXACT OMO:0003012 [] synonym: "GD1" EXACT OMO:0003012 [] synonym: "Glucocerebrosidase Deficiency" EXACT [] xref: ICD10CM:E75.2 xref: MIM:230800 xref: ORDO:77259 is_a: DOID:1926 ! Gaucher's disease disjoint_from: DOID:0110958 ! Gaucher's disease type II [Term] id: DOID:0110958 name: Gaucher's disease type II def: "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10649495, url:https\://www.ncbi.nlm.nih.gov/pubmed/2880291] subset: DO_rare_slim synonym: "Gaucher Disease, Acute Neuronopathic Type" EXACT [] synonym: "GD II" EXACT OMO:0003012 [] synonym: "GD2" EXACT OMO:0003012 [] synonym: "Infantile Cerebral Gaucher Disease" EXACT [] xref: ICD10CM:E75.2 xref: MIM:230900 xref: ORDO:77260 is_a: DOID:1926 ! Gaucher's disease [Term] id: DOID:0110959 name: Gaucher's disease type III def: "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2378352, url:https\://www.ncbi.nlm.nih.gov/pubmed/8413956] subset: DO_rare_slim synonym: "Gaucher Disease, Chronic Neuronopathic Type" EXACT [] synonym: "Gaucher Disease, Juvenile And Adult, Cerebral" EXACT [] synonym: "Gaucher Disease, Subacute Neuronopathic Type" EXACT [] synonym: "GD III" EXACT OMO:0003012 [] xref: ICD10CM:E75.2 xref: MIM:231000 xref: ORDO:77261 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1926 ! Gaucher's disease [Term] id: DOID:0110960 name: Gaucher's disease perinatal lethal def: "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12838552, url:https\://www.ncbi.nlm.nih.gov/pubmed/1437405] subset: DO_rare_slim synonym: "Fetal Gaucher Disease" EXACT [] synonym: "Gaucher Disease, Collodion Type" EXACT [] xref: ICD10CM:E75.2 xref: MIM:608013 xref: ORDO:85212 is_a: DOID:1926 ! Gaucher's disease [Term] id: DOID:0110961 name: atypical Gaucher's disease due to saposin c deficiency def: "A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17919309] subset: DO_rare_slim xref: ICD10CM:E75.2 xref: MIM:610539 xref: ORDO:309252 is_a: DOID:1926 ! Gaucher's disease [Term] id: DOID:0110962 name: brachydactyly-preaxial hallux varus syndrome def: "A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges." [url:https\://www.ncbi.nlm.nih.gov/pubmed/5082920] subset: DO_rare_slim synonym: "Christian brachydactyly" EXACT [] synonym: "preaxial brachydactyly with hallux varus and thumb abduction" EXACT [] xref: ICD10CM:Q73.8 xref: MIM:112450 xref: ORDO:1278 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110963 name: Ballard syndrome def: "A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature." [url:https\://www.ncbi.nlm.nih.gov/pubmed/4009643] subset: DO_rare_slim synonym: "Ballard type brachydactyly" EXACT [] synonym: "brachydactyly types B and E combined" EXACT [] synonym: "Pitt-Williams brachydactyly" EXACT [] xref: ICD10CM:Q73.8 xref: MIM:112440 xref: ORDO:93395 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110964 name: brachydactyly type A1 def: "A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12525541, url:https\://www.ncbi.nlm.nih.gov/pubmed/14043746] subset: DO_rare_slim synonym: "BDA1" EXACT OMO:0003012 [] synonym: "Farabee type brachydactyly" EXACT [] xref: GARD:978 xref: MESH:C537088 xref: MIM:112500 xref: ORDO:93388 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110965 name: brachydactyly type A2 def: "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14523231, url:https\://www.ncbi.nlm.nih.gov/pubmed/16127465, url:https\://www.ncbi.nlm.nih.gov/pubmed/21357617] subset: DO_rare_slim synonym: "BDA2" EXACT OMO:0003012 [] synonym: "brachymesophalangy II" EXACT [] synonym: "Mohr-Wriedt type brachydactyly" EXACT [] xref: GARD:979 xref: MESH:C537089 xref: MIM:112600 xref: ORDO:93396 xref: SNOMEDCT_US_2023_03_01:720569006 xref: UMLS_CUI:C1832702 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110966 name: brachydactyly type A3 def: "A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7416253] subset: DO_rare_slim synonym: "BDA3" EXACT OMO:0003012 [] synonym: "brachydactyly-clinodactyly" EXACT [] synonym: "brachymesophalangy V" EXACT [] xref: GARD:963 xref: MESH:C537090 xref: MIM:112700 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110967 name: brachydactyly type A4 def: "A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/4325377, url:https\://www.ncbi.nlm.nih.gov/pubmed/5663738] subset: DO_rare_slim synonym: "BDA4" EXACT OMO:0003012 [] synonym: "brachymesophalangy II and V" EXACT [] synonym: "Temtamy type brachydactyly" EXACT [] xref: GARD:990 xref: ICD10CM:Q73.8 xref: MIM:112800 xref: ORDO:93394 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110968 name: brachydactyly type A6 def: "A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions." [url:https\://www.ncbi.nlm.nih.gov/pubmed/4073129] subset: DO_rare_slim synonym: "BDA6" EXACT OMO:0003012 [] synonym: "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities" EXACT [] synonym: "Osebold-Remondini syndrome" EXACT [] xref: GARD:983 xref: MESH:C537092 xref: MIM:112910 xref: ORDO:93382 xref: SNOMEDCT_US_2023_03_01:715722003 xref: UMLS_CUI:C1862130 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110969 name: brachydactyly type B1 def: "A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10700182, url:https\://www.ncbi.nlm.nih.gov/pubmed/9973295] synonym: "BDB1" EXACT OMO:0003012 [] xref: MIM:113000 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110970 name: brachydactyly type C def: "A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9288091] subset: DO_rare_slim synonym: "BDC" EXACT OMO:0003012 [] xref: GARD:986 xref: MESH:C537093 xref: MIM:113100 xref: ORDO:93384 xref: SNOMEDCT_US_2023_03_01:389169005 xref: UMLS_CUI:C1300268 xref: UMLS_CUI:C1862103 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110971 name: brachydactyly type D def: "A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12649808] synonym: "BDD" EXACT OMO:0003012 [] xref: MIM:113200 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110972 name: brachydactyly type E1 def: "A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12649808, url:https\://www.ncbi.nlm.nih.gov/pubmed/8933344] synonym: "BDE1" EXACT OMO:0003012 [] xref: MIM:113300 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110973 name: Mononen-Karnes-Senac syndrome def: "A brachydactyly characterized by short, abducted thumbs and great toes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1632443] subset: DO_rare_slim synonym: "Mononen type brachydactyly" EXACT [] synonym: "short and abducted thumbs and great toes" EXACT [] xref: MESH:C535914 xref: MIM:301940 xref: ORDO:2565 xref: SNOMEDCT_US_2023_03_01:733095006 xref: UMLS_CUI:C2931060 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110974 name: brachydactyly type A1B def: "A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11897820] synonym: "BDA1B" EXACT OMO:0003012 [] xref: MIM:607004 is_a: DOID:0110964 ! brachydactyly type A1 [Term] id: DOID:0110975 name: brachydactyly type B2 def: "A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17668388] subset: DO_rare_slim synonym: "BDB2" EXACT OMO:0003012 [] xref: ICD10CM:Q73.8 xref: MIM:611377 xref: ORDO:140908 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110976 name: brachydactyly type E2 def: "A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20015959, url:https\://www.ncbi.nlm.nih.gov/pubmed/20170896] synonym: "BDE2" EXACT OMO:0003012 [] xref: MIM:613382 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110977 name: brachydactyly type A1C def: "A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20683927] synonym: "BDA1C" EXACT OMO:0003012 [] xref: MIM:615072 is_a: DOID:0110964 ! brachydactyly type A1 [Term] id: DOID:0110978 name: brachydactyly type A1D def: "A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25758993] synonym: "BDA1D" EXACT OMO:0003012 [] xref: MIM:616849 is_a: DOID:0110964 ! brachydactyly type A1 [Term] id: DOID:0110979 name: Sugarman brachydactyly def: "A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7083610] subset: DO_rare_slim synonym: "brachydactyly with major proximal phalangeal shortening" EXACT [] xref: GARD:5058 xref: MIM:272150 xref: ORDO:498602 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110980 name: Joubert syndrome 1 def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19668216] synonym: "cerebellooculorenal syndrome 1" EXACT [] synonym: "cerebelloparenchymal disorder IV" EXACT [] synonym: "CORS1" EXACT OMO:0003012 [] synonym: "CPD4" EXACT OMO:0003012 [] synonym: "JBTS1" EXACT OMO:0003012 [] xref: MIM:213300 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110981 name: Joubert syndrome 10 def: "A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19800048] synonym: "JBTS10" EXACT OMO:0003012 [] xref: MESH:C567582 xref: MIM:300804 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0110982 name: Joubert syndrome 13 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21725307] synonym: "JBTS13" EXACT OMO:0003012 [] xref: MIM:614173 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110983 name: Joubert syndrome 14 def: "A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17603801, url:https\://www.ncbi.nlm.nih.gov/pubmed/22152675] synonym: "JBTS14" EXACT OMO:0003012 [] xref: MIM:614424 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110984 name: Joubert syndrome 15 def: "A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22246503] synonym: "JBTS15" EXACT OMO:0003012 [] xref: MIM:614464 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0110985 name: Joubert syndrome 16 def: "A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22282472] synonym: "JBTS16" EXACT OMO:0003012 [] xref: MIM:614465 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110986 name: Joubert syndrome 17 def: "A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26092869] synonym: "JBTS17" EXACT OMO:0003012 [] xref: MIM:614615 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110987 name: Joubert syndrome 18 def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22883145] synonym: "JBTS18" EXACT OMO:0003012 [] xref: MIM:614815 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110988 name: Joubert syndrome 2 def: "A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20036350, url:https\://www.ncbi.nlm.nih.gov/pubmed/9373798] subset: DO_rare_slim synonym: "cerebellooculorenal syndrome 2" EXACT [] synonym: "CORS2" EXACT OMO:0003012 [] synonym: "JBTS2" EXACT OMO:0003012 [] xref: GARD:10167 xref: MESH:C536294 xref: MIM:608091 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110989 name: Joubert syndrome 20 def: "A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23012439] synonym: "JBTS20" EXACT OMO:0003012 [] xref: MIM:614970 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110990 name: Joubert syndrome 21 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24360808] synonym: "JBTS21" EXACT OMO:0003012 [] xref: MIM:615636 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110991 name: Joubert syndrome 22 def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24166846] synonym: "JBTS22" EXACT OMO:0003012 [] xref: MIM:615665 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110992 name: Joubert syndrome 23 def: "A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26096313] synonym: "JBTS23" EXACT OMO:0003012 [] xref: MIM:616490 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110993 name: Joubert syndrome 24 def: "A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21565611, url:https\://www.ncbi.nlm.nih.gov/pubmed/25118024] synonym: "JBTS24" EXACT OMO:0003012 [] xref: MIM:616654 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110994 name: Joubert syndrome 25 def: "A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26477546] synonym: "JBTS25" EXACT OMO:0003012 [] xref: MIM:616781 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110995 name: Joubert syndrome 26 def: "A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26714646] synonym: "JBTS26" EXACT OMO:0003012 [] xref: MIM:616784 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110996 name: Joubert syndrome 27 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24886560] synonym: "JBTS27" EXACT OMO:0003012 [] xref: MIM:617120 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110997 name: Joubert syndrome 28 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24886560] synonym: "JBTS28" EXACT OMO:0003012 [] xref: MIM:617121 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110998 name: Joubert syndrome 3 def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15322546] synonym: "JBTS3" EXACT OMO:0003012 [] xref: MESH:C536295 xref: MIM:608629 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110999 name: Joubert syndrome 4 def: "A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15138899] subset: DO_rare_slim synonym: "JBTS4" EXACT OMO:0003012 [] xref: GARD:10169 xref: MESH:C536296 xref: MIM:609583 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0111000 name: Joubert syndrome 5 def: "A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16682973] synonym: "JBTS5" EXACT OMO:0003012 [] xref: MESH:C537688 xref: MIM:610188 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0111001 name: Joubert syndrome 6 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17160906] synonym: "JBTS6" EXACT OMO:0003012 [] xref: MESH:C537689 xref: MIM:610688 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0111002 name: Joubert syndrome 7 def: "A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17558409] synonym: "JBTS7" EXACT OMO:0003012 [] xref: MESH:C566916 xref: MIM:611560 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0111003 name: Joubert syndrome 8 def: "A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18674751] synonym: "JBTS8" EXACT OMO:0003012 [] xref: MESH:C567358 xref: MIM:612291 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0111004 name: Joubert syndrome 9 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18387594] synonym: "JBTS9" EXACT OMO:0003012 [] xref: MESH:C567364 xref: MIM:612285 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0111005 name: cone-rod dystrophy 2 def: "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9390563] subset: DO_rare_slim synonym: "cone-rod retinal dystrophy 2" EXACT [] synonym: "CORD2" EXACT OMO:0003012 [] synonym: "CRD2" EXACT OMO:0003012 [] synonym: "RCRD2" EXACT OMO:0003012 [] synonym: "retinal cone-rod dystrophy 2" EXACT [] xref: GARD:6145 xref: MIM:120970 is_a: DOID:0050572 ! cone-rod dystrophy disjoint_from: DOID:0111006 ! X-linked cone-rod dystrophy 2 [Term] id: DOID:0111006 name: X-linked cone-rod dystrophy 2 def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9199568] synonym: "COD2" EXACT OMO:0003012 [] synonym: "CORDX2" EXACT OMO:0003012 [] synonym: "X-linked cone dystrophy 2" EXACT [] xref: MIM:300085 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111007 name: X-linked cone-rod dystrophy 3 def: "A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16505158] synonym: "CORDX3" EXACT OMO:0003012 [] xref: MIM:300476 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111008 name: X-linked cone-rod dystrophy 1 def: "A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11857109] synonym: "COD1" EXACT OMO:0003012 [] synonym: "CORDX1" EXACT OMO:0003012 [] synonym: "X-linked cone dystrophy 1" EXACT [] xref: MIM:304020 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111009 name: cone-rod dystrophy 1 def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1867279] subset: DO_rare_slim synonym: "CORD1" EXACT OMO:0003012 [] synonym: "CRD1" EXACT OMO:0003012 [] xref: GARD:10651 xref: MESH:C563469 xref: MIM:600624 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111010 name: cone-rod dystrophy 5 def: "A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17377520] synonym: "CORD5" EXACT OMO:0003012 [] xref: MESH:C563415 xref: MIM:600977 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111011 name: cone-rod dystrophy 6 def: "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9618177] subset: DO_rare_slim synonym: "CORD6" EXACT OMO:0003012 [] synonym: "RCD2" EXACT OMO:0003012 [] synonym: "retinal cone dystrophy 2" EXACT [] xref: GARD:10656 xref: MIM:601777 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111012 name: cone-rod dystrophy 7 def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13." [url:https\://pubmed.ncbi.nlm.nih.gov/35947379/, url:https\://www.ncbi.nlm.nih.gov/pubmed/12659814] synonym: "CORD7" EXACT OMO:0003012 [] xref: MESH:C566350 xref: MIM:603649 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111013 name: cone-rod dystrophy 3 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9466990] subset: DO_rare_slim synonym: "CORD3" EXACT OMO:0003012 [] xref: GARD:10653 xref: MESH:C565827 xref: MIM:604116 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111014 name: cone-rod dystrophy 8 def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11053266] synonym: "CORD8" EXACT OMO:0003012 [] xref: MESH:C565322 xref: MIM:605549 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111015 name: Newfoundland cone-rod dystrophy def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11868161] synonym: "NFRCD" EXACT OMO:0003012 [] xref: MIM:607476 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111016 name: cone-rod dystrophy 13 def: "A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12920076] synonym: "CORD13" EXACT OMO:0003012 [] xref: MESH:C567698 xref: MIM:608194 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111017 name: cone-rod dystrophy 10 def: "A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16199541] synonym: "CORD10" EXACT OMO:0003012 [] xref: MESH:C564597 xref: MIM:610283 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111018 name: cone-rod dystrophy 11 def: "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25789692] synonym: "CORD11" EXACT OMO:0003012 [] xref: MESH:C563671 xref: MIM:610381 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111019 name: cone-rod dystrophy 12 def: "A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15." [url:https\://pubmed.ncbi.nlm.nih.gov/35947379/, url:https\://www.ncbi.nlm.nih.gov/pubmed/18654668, url:https\://www.ncbi.nlm.nih.gov/pubmed/24474277] synonym: "CORD12" EXACT OMO:0003012 [] xref: MESH:C567206 xref: MIM:612657 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111020 name: cone-rod dystrophy 9 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19409519] synonym: "CORD9" EXACT OMO:0003012 [] xref: MIM:612775 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111021 name: cone-rod dystrophy 15 def: "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20805371] synonym: "CORD15" EXACT OMO:0003012 [] xref: MIM:613660 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111022 name: cone-rod dystrophy 16 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26865426] synonym: "CORD16" EXACT OMO:0003012 [] synonym: "retinal dystrophy with early macular involvement" EXACT [] xref: MIM:614500 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111023 name: cone-rod dystrophy 17 def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22929024] synonym: "CORD17" EXACT OMO:0003012 [] xref: MIM:615163 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111024 name: cone-rod dystrophy 18 def: "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23746546] synonym: "CORD18" EXACT OMO:0003012 [] xref: MIM:615374 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111025 name: cone-rod dystrophy 19 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24791901] synonym: "CORD19" EXACT OMO:0003012 [] xref: MIM:615860 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111026 name: cone-rod dystrophy 20 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24945461, url:https\://www.ncbi.nlm.nih.gov/pubmed/25018096] synonym: "CORD20" EXACT OMO:0003012 [] xref: MIM:615973 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111027 name: hemochromatosis type 2A def: "A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14647275] synonym: "HFE2A" EXACT OMO:0003012 [] xref: MIM:602390 is_a: DOID:0111034 ! hemochromatosis type 2 [Term] id: DOID:0111028 name: hemochromatosis type 4 def: "A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11431687] subset: DO_rare_slim synonym: "autosomal dominant hereditary hemochromatosis" EXACT [] synonym: "ferroportin disease" EXACT [] synonym: "hemochromatosis due to defect in ferroportin" EXACT [] synonym: "HFE4" EXACT OMO:0003012 [] xref: GARD:10094 xref: MESH:C537249 xref: MIM:606069 xref: ORDO:139491 xref: SNOMEDCT_US_2023_03_01:719975002 xref: UMLS_CUI:C1853733 is_a: DOID:2352 ! hemochromatosis [Term] id: DOID:0111029 name: hemochromatosis type 1 def: "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8696333] subset: DO_rare_slim synonym: "HFE1" EXACT OMO:0003012 [] synonym: "symptomatic form of classic hemochromatosis" EXACT [] synonym: "symptomatic form of hemochromatosis type 1" EXACT [] synonym: "symptomatic form of HFE-related hereditary hemochromatosis" EXACT [] xref: GARD:10417 xref: ICD10CM:E83.1 xref: MIM:235200 xref: ORDO:465508 is_a: DOID:2352 ! hemochromatosis [Term] id: DOID:0111030 name: hemochromatosis type 3 def: "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10802645] subset: DO_rare_slim synonym: "hemochromatosis due to defect in transferrin receptor 2" EXACT [] synonym: "HFE3" EXACT OMO:0003012 [] synonym: "TFR2-related hemochromatosis" EXACT [] xref: GARD:10093 xref: MESH:C537248 xref: MIM:604250 xref: ORDO:225123 xref: SNOMEDCT_US_2023_03_01:719974003 xref: UMLS_CUI:C1858664 is_a: DOID:2352 ! hemochromatosis [Term] id: DOID:0111031 name: hemochromatosis type 5 def: "A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11389486] subset: DO_rare_slim synonym: "FTH1-associated iron overload" EXACT [] synonym: "FTH1-related iron overload" EXACT [] synonym: "HFE5" EXACT OMO:0003012 [] xref: ICD10CM:E83.1 xref: MIM:615517 xref: ORDO:247790 is_a: DOID:2352 ! hemochromatosis [Term] id: DOID:0111032 name: hemochromatosis type 2B def: "A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12469120] synonym: "HFE2B" EXACT OMO:0003012 [] xref: MIM:613313 is_a: DOID:0111034 ! hemochromatosis type 2 [Term] id: DOID:0111033 name: African iron overload def: "A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10607817] subset: DO_rare_slim synonym: "Bantu siderosis" EXACT [] synonym: "iron overload in Africa" EXACT [] xref: ICD10CM:E83.1 xref: MIM:601195 xref: ORDO:139507 is_a: DOID:2352 ! hemochromatosis [Term] id: DOID:0111034 name: hemochromatosis type 2 def: "A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1170/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10205270] subset: DO_rare_slim synonym: "HFE2" EXACT OMO:0003012 [] synonym: "JHH" EXACT OMO:0003012 [] synonym: "juvenile hemochromatosis" EXACT [] xref: GARD:10092 xref: ICD10CM:E83.1 xref: MESH:C537247 xref: ORDO:79230 is_a: DOID:2352 ! hemochromatosis [Term] id: DOID:0111035 name: CADASIL 1 def: "A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10476042, url:https\://www.ncbi.nlm.nih.gov/pubmed/8878478] synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1" EXACT [] xref: ICD10CM:F01.1 xref: MIM:125310 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13945 ! CADASIL disjoint_from: DOID:0111036 ! CADASIL 2 [Term] id: DOID:0111036 name: CADASIL 2 def: "A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26063658] synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2" EXACT [] xref: ICD10CM:F01.1 xref: MIM:616779 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13945 ! CADASIL [Term] id: DOID:0111037 name: glycine N-methyltransferase deficiency def: "A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1159664, url:https\://www.ncbi.nlm.nih.gov/pubmed/11810299] subset: DO_rare_slim synonym: "GNMT deficiency" EXACT [] synonym: "hypermethioninemia due to glycine N-methyltransferase deficiency" EXACT [] synonym: "hypermethioninemia due to GNMT deficiency" EXACT [] xref: GARD:10764 xref: ICD10CM:E72.1 xref: MIM:606664 xref: ORDO:289891 is_a: DOID:0050544 ! hypermethioninemia disjoint_from: DOID:0111038 ! hypermethioninemia due to adenosine kinase deficiency [Term] id: DOID:0111038 name: hypermethioninemia due to adenosine kinase deficiency def: "A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17120046, url:https\://www.ncbi.nlm.nih.gov/pubmed/21963049] subset: DO_rare_slim synonym: "ADK hypermethioninemia" EXACT [] synonym: "autosomal recessive mental retardation 8" EXACT [] synonym: "hypermethioninemia encephalopathy due to adenosine kinase deficiency" EXACT [] synonym: "hypermethioninemia encephalopathy due to ADK deficiency" EXACT [] synonym: "MRT8" EXACT OMO:0003012 [] xref: ICD10CM:E72.1 xref: MIM:614300 xref: ORDO:289290 is_a: DOID:0050544 ! hypermethioninemia [Term] id: DOID:0111039 name: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase def: "A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15024124, url:https\://www.ncbi.nlm.nih.gov/pubmed/2380820] subset: DO_rare_slim synonym: "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency" EXACT [] synonym: "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency" EXACT [] xref: GARD:13177 xref: ICD10CM:E72.1 xref: MIM:613752 xref: ORDO:88618 is_a: DOID:0050544 ! hypermethioninemia [Term] id: DOID:0111040 name: glycogen storage disease IXd def: "A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22238410, url:https\://www.ncbi.nlm.nih.gov/pubmed/7874115] subset: DO_rare_slim synonym: "glycogen storage disease due to muscle phosphorylase kinase deficiency" EXACT [] synonym: "glycogen storage disease type 9D" EXACT [] synonym: "glycogen storage disease type 9E" EXACT [] synonym: "glycogen storage disease type IXd" EXACT [] synonym: "glycogen storage disease type IXe" EXACT [] synonym: "glycogenosis due to muscle phosphorylase kinase deficiency" EXACT [] synonym: "glycogenosis type 9D" EXACT [] synonym: "glycogenosis type 9E" EXACT [] synonym: "glycogenosis type IXd" EXACT [] synonym: "glycogenosis type IXe" EXACT [] synonym: "GSD due to muscle phosphorylase kinase deficiency" EXACT [] synonym: "GSD IXd" EXACT OMO:0003012 [] synonym: "GSD type 9D" EXACT [] synonym: "GSD type 9E" EXACT [] synonym: "GSD type IXd" EXACT [] synonym: "GSD type IXe" EXACT [] synonym: "GSD9D" EXACT OMO:0003012 [] synonym: "muscle phosphorylase kinase deficiency" EXACT [] synonym: "X-linked muscke glycogenosis" EXACT [] xref: ICD10CM:E74.0 xref: MIM:300559 xref: ORDO:715 is_a: DOID:0050594 ! glycogen storage disease IX is_a: DOID:0080012 ! X-linked recessive disease disjoint_from: DOID:0111041 ! glycogen storage disease IXb [Term] id: DOID:0111041 name: glycogen storage disease IXb def: "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25266922, url:https\://www.ncbi.nlm.nih.gov/pubmed/9215682] subset: DO_rare_slim synonym: "glycogen storage disease type 9B" EXACT [] synonym: "glycogen storage disease type IXb" EXACT [] synonym: "glycogenosis due to liver and muscle phosphorylase kinase deficiency" EXACT [] synonym: "glycogenosis type 9B" EXACT [] synonym: "glycogenosis type IXb" EXACT [] synonym: "GSD due to liver and muscle phosphorylase kinase deficiency" EXACT [] synonym: "GSD IXb" EXACT OMO:0003012 [] synonym: "GSD type 9B" EXACT [] synonym: "GSD type IXb" EXACT [] synonym: "GSD9B" EXACT OMO:0003012 [] xref: ICD10CM:E74.0 xref: MESH:C563008 xref: MIM:261750 xref: ORDO:79240 is_a: DOID:0050594 ! glycogen storage disease IX [Term] id: DOID:0111042 name: glycogen storage disease IXa def: "A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2303074, url:https\://www.ncbi.nlm.nih.gov/pubmed/7711737] synonym: "glycogen storage disease type 9A" EXACT [] synonym: "glycogen storage disease type IXa" EXACT [] synonym: "glycogenosis type 9A" EXACT [] synonym: "glycogenosis type IXa" EXACT [] synonym: "GSD type 9A" EXACT [] synonym: "GSD type IXa" EXACT [] synonym: "GSD9A" EXACT OMO:0003012 [] xref: ICD10CM:E74.0 xref: MIM:306000 is_a: DOID:0050594 ! glycogen storage disease IX is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111043 name: glycogen storage disease IXc def: "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6962066, url:https\://www.ncbi.nlm.nih.gov/pubmed/9384616] synonym: "glycogen storage disease type 9C" EXACT [] synonym: "glycogen storage disease type IXc" EXACT [] synonym: "glycogenosis type 9C" EXACT [] synonym: "glycogenosis type IXc" EXACT [] synonym: "GSD type 9C" EXACT [] synonym: "GSD type IXc" EXACT [] synonym: "GSD9C" EXACT OMO:0003012 [] xref: ICD10CM:E74.0 xref: MESH:C567809 xref: MIM:613027 is_a: DOID:0050594 ! glycogen storage disease IX is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111044 name: gray platelet syndrome def: "A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17768118, url:https\://www.ncbi.nlm.nih.gov/pubmed/21765411, url:https\://www.ncbi.nlm.nih.gov/pubmed/21765412, url:https\://www.ncbi.nlm.nih.gov/pubmed/21765413] subset: DO_rare_slim subset: NCIthesaurus synonym: "BDPLT4" EXACT OMO:0003012 [] synonym: "GPS" EXACT OMO:0003012 [] synonym: "platelet alpha-granule deficiency" EXACT [] synonym: "platelet-type bleeding disorder 4" EXACT [] xref: GARD:2562 xref: ICD10CM:D69.1 xref: MESH:D055652 xref: MIM:139090 xref: NCI:C84741 xref: ORDO:721 xref: SNOMEDCT_US_2023_03_01:51720005 xref: UMLS_CUI:C0272302 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0111045 name: platelet-type bleeding disorder 9 def: "A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2933589, url:https\://www.ncbi.nlm.nih.gov/pubmed/2943331] subset: DO_rare_slim synonym: "BDPLT9" EXACT OMO:0003012 [] synonym: "collagen platelet receptor deficiency" EXACT [] synonym: "glycoprotein Ia deficiency" EXACT [] synonym: "GP Ia deficiency" EXACT [] xref: ICD10CM:D69.8 xref: MIM:614200 xref: ORDO:98886 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0111046 name: platelet-type bleeding disorder 10 def: "A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11499670, url:https\://www.ncbi.nlm.nih.gov/pubmed/7506948, url:https\://www.ncbi.nlm.nih.gov/pubmed/7686693] synonym: "BDPLT10" EXACT OMO:0003012 [] synonym: "CD36 deficiency" EXACT [] synonym: "platelet glycoprotein IV deficiency" EXACT [] xref: MIM:608404 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0111047 name: platelet-type bleeding disorder 14 def: "A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6268139] synonym: "BDPLT14" EXACT OMO:0003012 [] synonym: "thromboxane synthase deficiency" EXACT [] xref: MIM:614158 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0111048 name: platelet-type bleeding disorder 19 def: "A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25061177] subset: DO_rare_slim synonym: "BDPLT19" EXACT OMO:0003012 [] synonym: "severe autosomal recessive macrothrombocytopenia" EXACT [] xref: ICD10CM:D69.4 xref: MIM:616176 xref: ORDO:438207 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0111049 name: platelet-type bleeding disorder 17 def: "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24325358, url:https\://www.ncbi.nlm.nih.gov/pubmed/5681484] subset: NCIthesaurus synonym: "BDPLT17" EXACT OMO:0003012 [] synonym: "hereditary thrombasthenia-thrombocytopenia" EXACT [] xref: ICD10CM:D69.1 xref: MESH:D055652 xref: MIM:187900 xref: NCI:C84741 xref: SNOMEDCT_US_2023_03_01:51720005 xref: UMLS_CUI:C0272302 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0111050 name: Quebec platelet disorder def: "A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18988861, url:https\://www.ncbi.nlm.nih.gov/pubmed/20007542] subset: DO_rare_slim synonym: "BDPLT5" EXACT OMO:0003012 [] synonym: "factor V Quebec" EXACT [] synonym: "platelet-type bleeding disorder 5" EXACT [] xref: GARD:8345 xref: MESH:C536260 xref: MIM:601709 xref: ORDO:220436 xref: UMLS_CUI:C1866423 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0111051 name: platelet-type bleeding disorder 18 def: "A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24958846] subset: DO_rare_slim synonym: "BDPLT18" EXACT OMO:0003012 [] synonym: "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency" EXACT [] synonym: "bleeding disorder due to CalDAG-GEFI deficiency" EXACT [] xref: ICD10CM:D69.1 xref: MIM:615888 xref: ORDO:420566 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0111052 name: Scott syndrome def: "A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12669124, url:https\://www.ncbi.nlm.nih.gov/pubmed/21107324] subset: DO_rare_slim synonym: "BDPLT7" EXACT OMO:0003012 [] synonym: "bleeding abnormality due to deficiency of platelet biding of factor X" EXACT [] synonym: "familial prothrombin consumption inhibitor" EXACT [] synonym: "familial prothrombin conversion defect" EXACT [] synonym: "platelet-type bleeding disorder 7" EXACT [] synonym: "prothrombin consumption deficiency" EXACT [] synonym: "SCTS" EXACT OMO:0003012 [] xref: GARD:4777 xref: MESH:C563120 xref: MIM:262890 xref: ORDO:806 xref: SNOMEDCT_US_2023_03_01:128098009 xref: UMLS_CUI:C0796149 is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:0111053 name: platelet-type bleeding disorder 15 def: "A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23434115] synonym: "autosomal dominant macrothrombocytopenia ACTN1-related" EXACT [] synonym: "BDPLT15" EXACT OMO:0003012 [] xref: MIM:615193 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0111054 name: von Willebrand's disease 3 def: "A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19630771, url:https\://www.ncbi.nlm.nih.gov/pubmed/3258663] subset: DO_rare_slim subset: NCIthesaurus synonym: "von Willebrand disease type 3" EXACT [] synonym: "von Willebrand disease type III" EXACT [] synonym: "VWD type 3" EXACT [] synonym: "VWD3" EXACT OMO:0003012 [] xref: ICD10CM:D68.03 xref: MESH:D056729 xref: MIM:277480 xref: NCI:C85213 xref: ORDO:166096 xref: SNOMEDCT_US_2023_03_01:128108002 xref: UMLS_CUI:C1264041 is_a: DOID:12531 ! von Willebrand's disease [Term] id: DOID:0111055 name: platelet-type bleeding disorder 20 def: "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26280575, url:https\://www.ncbi.nlm.nih.gov/pubmed/26769223] subset: DO_rare_slim synonym: "autosomal dominant thrombocytopenia with platelet secretion defect" EXACT [] synonym: "BDPLT20" EXACT OMO:0003012 [] xref: MIM:616913 xref: ORDO:466806 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0111056 name: platelet-type bleeding disorder 3 def: "A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2052556, url:https\://www.ncbi.nlm.nih.gov/pubmed/8486780] subset: DO_rare_slim synonym: "BDPLT3" EXACT OMO:0003012 [] synonym: "platelet type-von Willebrand disease" EXACT [] synonym: "pseudo-von Willebrand disease" EXACT [] synonym: "PT-VWD" EXACT OMO:0003012 [] synonym: "von Willebrand disease platelet-type" EXACT [] xref: ICD10CM:D69.8 xref: MIM:177820 xref: ORDO:52530 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0111057 name: platelet-type bleeding disorder 11 def: "A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19549989, url:https\://www.ncbi.nlm.nih.gov/pubmed/19552682] subset: DO_rare_slim synonym: "BDPLT11" EXACT OMO:0003012 [] synonym: "glycoprotein VI deficiency" EXACT [] synonym: "GP VI deficiency" EXACT [] xref: ICD10CM:D69.8 xref: MIM:614201 xref: ORDO:98885 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0111058 name: platelet-type bleeding disorder 12 def: "A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8562397] synonym: "BDPLT12" EXACT OMO:0003012 [] synonym: "PGHS1 deficiency" EXACT [] synonym: "platelet COX1 deficiency" EXACT [] synonym: "platelet cyclooxygenase 1 deficiency" EXACT [] synonym: "platelet prostaglandin-endoperoxide synthase 1 deficiency" EXACT [] xref: MIM:605735 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0111059 name: Bernard-Soulier syndrome type A2 def: "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11222377, url:https\://www.ncbi.nlm.nih.gov/pubmed/1730088] synonym: "BSSA2" EXACT OMO:0003012 [] xref: MIM:153670 is_a: DOID:2217 ! Bernard-Soulier syndrome [Term] id: DOID:0111060 name: Ambras type hypertrichosis universalis congenita def: "A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18328202, url:https\://www.ncbi.nlm.nih.gov/pubmed/8275569, url:https\://www.ncbi.nlm.nih.gov/pubmed/9712536] subset: DO_rare_slim synonym: "Ambras syndrome" EXACT [] synonym: "HTC1" EXACT OMO:0003012 [] xref: GARD:8206 xref: ICD10CM:Q84.2 xref: MESH:C536605 xref: MIM:145701 xref: ORDO:1023 is_a: DOID:420 ! hypertrichosis [Term] id: DOID:0111061 name: familial hypobetalipoproteinemia 2 def: "A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20942659] synonym: "combined familial hypolipidemia" EXACT [] synonym: "FHBL2" EXACT OMO:0003012 [] xref: MIM:605019 is_a: DOID:1390 ! hypobetalipoproteinemia disjoint_from: DOID:0111062 ! familial hypobetalipoproteinemia 1 [Term] id: DOID:0111062 name: familial hypobetalipoproteinemia 1 def: "A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3399894] synonym: "FHBL1" EXACT OMO:0003012 [] xref: MIM:615558 is_a: DOID:1390 ! hypobetalipoproteinemia [Term] id: DOID:0111063 name: hyperphosphatemic familial tumoral calcinosis def: "A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene." [url:https\://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/15133511, url:https\://www.ncbi.nlm.nih.gov/pubmed/15590700, url:https\://www.ncbi.nlm.nih.gov/pubmed/16151858, url:https\://www.ncbi.nlm.nih.gov/pubmed/17710231] subset: DO_rare_slim synonym: "cortical hyperostosis with hyperphosphatemia" EXACT [] synonym: "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome" EXACT [] synonym: "familial Teutschlaender disease" EXACT [] synonym: "HFTC" EXACT OMO:0003012 [] synonym: "hypercalcemic tumoral calcinosis" EXACT [] synonym: "hyperostosis with hyperphosphatemia" EXACT [] synonym: "hyperphosphatemia hyperostosis" EXACT [] synonym: "hyperphosphatemia hyperostosis syndrome" EXACT [] synonym: "hyperphosphatemia tumoral calcinosis" EXACT [] synonym: "lipocalcinogranulomatosis" EXACT [] synonym: "morbus Teutschlaender" EXACT [] synonym: "PHPTC" EXACT OMO:0003012 [] synonym: "primary hyperphosphatemic tumoral calcinosis" EXACT [] synonym: "tumoral calcinosis with hyperphosphatemia" EXACT [] xref: GARD:10879 xref: ICD10CM:M11.2 xref: MIM:211900 xref: ORDO:306661 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:182 ! calcinosis is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111064 name: autosomal recessive distal hereditary motor neuronopathy 1 def: "A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11528396, url:https\://www.ncbi.nlm.nih.gov/pubmed/2801766] subset: DO_rare_slim synonym: "autosomal recessive distal spinal muscular atrophy 1" EXACT [] synonym: "autosomal recessive spinal muscular atrophy with respiratory distress" EXACT [] synonym: "dHMN6" EXACT OMO:0003012 [] synonym: "diaphragmatic spinal muscular atrophy" EXACT [] synonym: "distal hereditary motor neuropathy type 6" EXACT [] synonym: "distal spinal muscular atrophy 1" EXACT [] synonym: "distal-HMN type 6" EXACT [] synonym: "DSMA1" EXACT OMO:0003012 [] synonym: "severe infantile axonal neuropathy with respiratory failure type 1" EXACT [] synonym: "SIANRF" EXACT OMO:0003012 [] synonym: "SMARD1" EXACT OMO:0003012 [] synonym: "spinal muscular atrophy with respiratory distress type 1" EXACT [] xref: ICD10CM:G12.2 xref: MIM:604320 xref: ORDO:98920 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0111065 name: autosomal recessive distal hereditary motor neuronopathy 2 def: "A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26078401] subset: DO_rare_slim synonym: "autosomal recessive distal spinal muscular atrophy 2" EXACT [] synonym: "dHMNJ" EXACT OMO:0003012 [] synonym: "distal hereditary motor neuropathy Jerash type" EXACT [] synonym: "distal spinal muscular atrophy 2" EXACT [] synonym: "DSMA2" EXACT OMO:0003012 [] synonym: "spinal muscular atrophy Jerash type" EXACT [] xref: GARD:10133 xref: MESH:C535715 xref: MIM:605726 xref: ORDO:139552 xref: SNOMEDCT_US_2023_03_01:763533003 xref: UMLS_CUI:C1854023 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0111066 name: congenital bile acid synthesis defect 5 def: "A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25168382] subset: DO_rare_slim synonym: "CBAS5" EXACT OMO:0003012 [] xref: MIM:616278 is_a: DOID:0050674 ! congenital bile acid synthesis defect disjoint_from: DOID:0111067 ! congenital bile acid synthesis defect 6 [Term] id: DOID:0111067 name: congenital bile acid synthesis defect 6 def: "A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27647924, url:https\://www.ncbi.nlm.nih.gov/pubmed/27884763] subset: DO_rare_slim synonym: "CBAS6" EXACT OMO:0003012 [] xref: MIM:617308 is_a: DOID:0050674 ! congenital bile acid synthesis defect [Term] id: DOID:0111068 name: congenital bile acid synthesis defect 4 def: "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12512044, url:https\://www.ncbi.nlm.nih.gov/pubmed/5064535] subset: DO_rare_slim synonym: "CBAS4" EXACT OMO:0003012 [] synonym: "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid" EXACT [] synonym: "trihydroxycoprostanic acid in bile" EXACT [] xref: GARD:10046 xref: MESH:C535444 xref: MIM:214950 xref: ORDO:79095 xref: UMLS_CUI:C1858328 is_a: DOID:0050674 ! congenital bile acid synthesis defect [Term] id: DOID:0111069 name: congenital bile acid synthesis defect 2 def: "A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12970144, url:https\://www.ncbi.nlm.nih.gov/pubmed/3198770, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303] subset: DO_rare_slim synonym: "CBAS2" EXACT OMO:0003012 [] synonym: "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" EXACT [] xref: GARD:10045 xref: MESH:C535443 xref: MIM:235555 xref: ORDO:79303 xref: SNOMEDCT_US_2023_03_01:238035000 xref: UMLS_CUI:C1856127 is_a: DOID:0050674 ! congenital bile acid synthesis defect [Term] id: DOID:0111070 name: congenital bile acid synthesis defect 3 def: "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9802883] subset: DO_rare_slim synonym: "CBAS3" EXACT OMO:0003012 [] synonym: "oxysterol 7-alpha-hydroxylase deficiency" EXACT [] xref: MESH:C566340 xref: MIM:613812 xref: ORDO:79302 xref: UMLS_CUI:C3151147 is_a: DOID:0050674 ! congenital bile acid synthesis defect [Term] id: DOID:0111071 name: congenital bile acid synthesis defect 1 def: "A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11067870, url:https\://www.ncbi.nlm.nih.gov/pubmed/3470305] subset: DO_rare_slim synonym: "CBAS1" EXACT OMO:0003012 [] xref: GARD:9813 xref: MESH:C535442 xref: MIM:607765 xref: ORDO:79301 xref: SNOMEDCT_US_2023_03_01:238033007 xref: UMLS_CUI:C1843116 is_a: DOID:0050674 ! congenital bile acid synthesis defect [Term] id: DOID:0111072 name: myostatin-related muscle hypertrophy def: "A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15215484] subset: DO_rare_slim synonym: "MSLHP" EXACT OMO:0003012 [] xref: GARD:10238 xref: MESH:C536106 xref: MIM:614160 xref: ORDO:275534 xref: SNOMEDCT_US_2023_03_01:699185005 xref: UMLS_CUI:C2931112 is_a: DOID:66 ! muscle tissue disease [Term] id: DOID:0111073 name: progressive familial heart block def: "A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death." [url:https\://www.ncbi.nlm.nih.gov/pubmed/897853] subset: DO_rare_slim synonym: "familial Lenegre disease" EXACT [] synonym: "familial Lev disease" EXACT [] synonym: "familial Lev-Lenegre disease" EXACT [] synonym: "familial PCCD" EXACT [] synonym: "familial progressive heart block" EXACT [] synonym: "hereditary bundle branch defect" EXACT [] synonym: "PFHB" EXACT OMO:0003012 [] xref: MIM:115080 xref: MIM:PS113900 xref: ORDO:871 is_a: DOID:10273 ! heart conduction disease [Term] id: DOID:0111074 name: progressive familial heart block type IA def: "A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10471492, url:https\://www.ncbi.nlm.nih.gov/pubmed/897853] synonym: "PFHB1A" EXACT OMO:0003012 [] xref: MIM:113900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111073 ! progressive familial heart block disjoint_from: DOID:0111075 ! progressive familial heart block type II [Term] id: DOID:0111075 name: progressive familial heart block type II def: "A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16086176, url:https\://www.ncbi.nlm.nih.gov/pubmed/897853] synonym: "PFHB2" EXACT OMO:0003012 [] xref: MESH:C564202 xref: MIM:140400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111073 ! progressive familial heart block [Term] id: DOID:0111076 name: progressive familial heart block type IB def: "A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19726882, url:https\://www.ncbi.nlm.nih.gov/pubmed/897853] synonym: "PFHB1B" EXACT OMO:0003012 [] xref: MESH:C567037 xref: MIM:604559 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111073 ! progressive familial heart block [Term] id: DOID:0111077 name: pyruvate kinase deficiency of red cells def: "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1896471, url:https\://www.ncbi.nlm.nih.gov/pubmed/728372, url:https\://www.ncbi.nlm.nih.gov/pubmed/7706479] subset: DO_rare_slim synonym: "hemolytic anemia due to red cell pyruvate kinase deficiency" EXACT [] synonym: "PK deficiency" EXACT [] synonym: "pyruvate kinase deficiency of erythrocyte" EXACT [] xref: GARD:7514 xref: MESH:C564858 xref: MIM:266200 xref: ORDO:766 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia [Term] id: DOID:0111078 name: tibial muscular dystrophy def: "A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12145747, url:https\://www.ncbi.nlm.nih.gov/pubmed/196233, url:https\://www.ncbi.nlm.nih.gov/pubmed/8503797] subset: DO_rare_slim synonym: "distal titinopathy" EXACT [] synonym: "Finnish tibial muscular dystrophy" EXACT [] synonym: "Tardive tibial muscular dystrophy" EXACT [] synonym: "TMD" EXACT OMO:0003012 [] synonym: "Udd myopathy" EXACT [] synonym: "Udd type distal myopathy" EXACT [] xref: MESH:D049310 xref: MIM:600334 xref: ORDO:609 xref: SNOMEDCT_US_2023_03_01:698846009 xref: UMLS_CUI:C1838244 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080001 ! bone disease is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0111079 name: birdshot chorioretinopathy def: "A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11226280, url:https\://www.ncbi.nlm.nih.gov/pubmed/16263368, url:https\://www.ncbi.nlm.nih.gov/pubmed/18214792] subset: DO_rare_slim synonym: "birdshot chorioretinitis" EXACT [] synonym: "birdshot retinochoroiditis" EXACT [] synonym: "birdshot retinochoroidopathy" EXACT [] synonym: "BSCR" EXACT OMO:0003012 [] synonym: "vitiliginous choroiditis" EXACT [] xref: GARD:5926 xref: MESH:D000080365 xref: MIM:605808 xref: ORDO:179 xref: SNOMEDCT_US_2023_03_01:231981005 xref: UMLS_CUI:C1853959 is_a: DOID:12574 ! posterior uveitis [Term] id: DOID:0111080 name: Fanconi anemia complementation group V def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27500492] synonym: "FANCV" EXACT OMO:0003012 [] xref: MIM:617243 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia disjoint_from: DOID:0111081 ! Fanconi anemia complementation group T [Term] id: DOID:0111081 name: Fanconi anemia complementation group T def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26046368] synonym: "FANCT" EXACT OMO:0003012 [] xref: MIM:616435 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111082 name: Fanconi anemia complementation group L def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12973351, url:https\://www.ncbi.nlm.nih.gov/pubmed/19405097] synonym: "FANCL" EXACT OMO:0003012 [] xref: MIM:614083 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111083 name: Fanconi anemia complementation group D2 def: "A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11239453, url:https\://www.ncbi.nlm.nih.gov/pubmed/17436244] synonym: "FA4" EXACT OMO:0003012 [] synonym: "FAD2" EXACT OMO:0003012 [] synonym: "FANCD2" EXACT OMO:0003012 [] synonym: "Fanconi pancytopenia type 4" EXACT [] xref: MIM:227646 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111084 name: Fanconi anemia complementation group E def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11001585] synonym: "FACE" EXACT OMO:0003012 [] synonym: "FANCE" EXACT OMO:0003012 [] xref: MIM:600901 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111085 name: Fanconi anemia complementation group U def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22232082] synonym: "FANCU" EXACT OMO:0003012 [] xref: MIM:617247 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111086 name: Fanconi anemia complementation group G def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9806548] synonym: "FANCG" EXACT OMO:0003012 [] xref: MIM:614082 is_a: DOID:0050177 ! monogenic disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111087 name: Fanconi anemia complementation group C def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1574115, url:https\://www.ncbi.nlm.nih.gov/pubmed/9272737] synonym: "FA3" EXACT OMO:0003012 [] synonym: "FACC" EXACT OMO:0003012 [] synonym: "FANCC" EXACT OMO:0003012 [] synonym: "Fanconi pancytopenia type 3" EXACT [] xref: MIM:227645 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111088 name: Fanconi anemia complementation group F def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10615118] synonym: "FANCF" EXACT OMO:0003012 [] xref: MIM:603467 is_a: DOID:0050177 ! monogenic disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111089 name: Fanconi anemia complementation group D1 def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12065746, url:https\://www.ncbi.nlm.nih.gov/pubmed/14670928] synonym: "FAD1" EXACT OMO:0003012 [] synonym: "FANCD1" EXACT OMO:0003012 [] xref: MIM:605724 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111090 name: Fanconi anemia complementation group R def: "A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26681308] synonym: "FANCR" EXACT OMO:0003012 [] xref: MIM:617244 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111091 name: Fanconi anemia complementation group I def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17452773] synonym: "FANCI" EXACT OMO:0003012 [] xref: MIM:609053 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111092 name: Fanconi anemia complementation group P def: "A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21240275, url:https\://www.ncbi.nlm.nih.gov/pubmed/21240277] synonym: "FANCP" EXACT OMO:0003012 [] xref: MIM:613951 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111093 name: Fanconi anemia complementation group Q def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23623386] synonym: "FANCQ" EXACT OMO:0003012 [] xref: MIM:615272 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111094 name: Fanconi anemia complementation group N def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17200671, url:https\://www.ncbi.nlm.nih.gov/pubmed/17200672] synonym: "FANCN" EXACT OMO:0003012 [] xref: MIM:610832 is_a: DOID:0050177 ! monogenic disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111095 name: Fanconi anemia complementation group A def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10094191, url:https\://www.ncbi.nlm.nih.gov/pubmed/9371798] synonym: "FANCA" EXACT OMO:0003012 [] xref: MIM:227650 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111096 name: Fanconi anemia complementation group O def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20400963] synonym: "FANCO" EXACT OMO:0003012 [] xref: MIM:613390 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111097 name: Fanconi anemia complementation group J def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16116424] synonym: "FANCJ" EXACT OMO:0003012 [] xref: MIM:609054 is_a: DOID:0050177 ! monogenic disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111098 name: Fanconi anemia complementation group B def: "A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15502827] synonym: "FACB" EXACT OMO:0003012 [] synonym: "FANCB" EXACT OMO:0003012 [] synonym: "Fanconi pancytopenia type 2" EXACT [] xref: MIM:300514 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111099 name: maturity-onset diabetes of the young type 1 def: "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9294105] synonym: "Diabetes Mellitus Type 2" EXACT [] synonym: "mild juvenile diabetes mellitus" EXACT [] synonym: "MODY type 1" EXACT [] synonym: "MODY1" EXACT OMO:0003012 [] xref: MIM:125850 is_a: DOID:0050524 ! maturity-onset diabetes of the young disjoint_from: DOID:0111100 ! maturity-onset diabetes of the young type 2 [Term] id: DOID:0111100 name: maturity-onset diabetes of the young type 2 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1570017] synonym: "MODY glucokinase-related" EXACT [] synonym: "MODY type 2" EXACT [] synonym: "MODY2" EXACT OMO:0003012 [] xref: MIM:125851 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111101 name: maturity-onset diabetes of the young type 5 def: "A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11085914, url:https\://www.ncbi.nlm.nih.gov/pubmed/15930087] synonym: "atypical familial juvenile hyperuricemic nephropathy" EXACT [] synonym: "atypical FJHN" EXACT [] synonym: "CAKUT with diabetes" EXACT [] synonym: "congenital anomalies of the kidney and urinary tract with diabetes" EXACT [] synonym: "familial hypoplastic glomerulocystic kidney" EXACT [] synonym: "hypoplastic type glomerulocystic kidney disease" EXACT [] synonym: "MODY5" EXACT OMO:0003012 [] synonym: "RCAD" EXACT OMO:0003012 [] synonym: "renal cysts and diabetes syndrome" EXACT [] xref: MIM:137920 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111102 name: maturity-onset diabetes of the young type 3 def: "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11575290, url:https\://www.ncbi.nlm.nih.gov/pubmed/7795649] synonym: "MODY type 3" EXACT [] synonym: "MODY3" EXACT OMO:0003012 [] xref: MIM:600496 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111103 name: maturity-onset diabetes of the young type 4 def: "A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9326926] synonym: "MODY type 4" EXACT [] synonym: "MODY4" EXACT OMO:0003012 [] xref: MESH:C563451 xref: MIM:606392 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111104 name: maturity-onset diabetes of the young type 6 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10545951] synonym: "MODY type 6" EXACT [] synonym: "MODY6" EXACT OMO:0003012 [] xref: MIM:606394 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111105 name: maturity-onset diabetes of the young type 8 def: "A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16369531] synonym: "diabetes and pancreatic exocrine" EXACT [] synonym: "maturity-onset diabetes of the young type 8 with exocrine dysfunction" EXACT [] synonym: "MODY type 8" EXACT [] synonym: "MODY8" EXACT OMO:0003012 [] xref: MIM:609812 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111106 name: maturity-onset diabetes of the young type 7 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15774581] synonym: "MODY7" EXACT OMO:0003012 [] xref: MIM:610508 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111107 name: maturity-onset diabetes of the young type 9 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17426099] synonym: "MODY9" EXACT OMO:0003012 [] xref: MIM:612225 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111108 name: maturity-onset diabetes of the young type 10 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18162506] synonym: "MODY10" EXACT OMO:0003012 [] xref: MIM:613370 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111109 name: maturity-onset diabetes of the young type 11 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19667185] synonym: "MODY11" EXACT OMO:0003012 [] xref: MIM:613375 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111110 name: maturity-onset diabetes of the young type 13 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15784703] synonym: "MODY type 13" EXACT [] synonym: "MODY13" EXACT OMO:0003012 [] xref: MIM:616329 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111111 name: maturity-onset diabetes of the young type 14 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26073777] synonym: "MODY14" EXACT OMO:0003012 [] xref: MIM:616511 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111112 name: nephronophthisis 1 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9326933, url:https\://www.ncbi.nlm.nih.gov/pubmed/9361039] synonym: "juvenile nephronophthisis 1" EXACT [] synonym: "NPH1" EXACT OMO:0003012 [] synonym: "NPHP1" EXACT OMO:0003012 [] xref: MIM:256100 is_a: DOID:12712 ! nephronophthisis disjoint_from: DOID:0111113 ! nephronophthisis 2 [Term] id: DOID:0111113 name: nephronophthisis 2 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12872123] synonym: "infantile nephronophthisis 2" EXACT [] synonym: "NPH2" EXACT OMO:0003012 [] synonym: "NPHP2" EXACT OMO:0003012 [] xref: MESH:C566582 xref: MIM:602088 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111114 name: nephronophthisis 3 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12872122] synonym: "NPH3" EXACT OMO:0003012 [] synonym: "NPHP3" EXACT OMO:0003012 [] xref: MESH:C565780 xref: MIM:604387 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111115 name: nephronophthisis 4 def: "A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12244321] synonym: "juvenile nephronophthisis 4" EXACT [] synonym: "NPHP4" EXACT OMO:0003012 [] xref: MESH:C564640 xref: MIM:606966 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111116 name: nephronophthisis 7 def: "A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17618285] synonym: "NPHP7" EXACT OMO:0003012 [] xref: MESH:C566930 xref: MIM:611498 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111117 name: nephronophthisis-like nephropathy 1 def: "A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20179356] synonym: "NPHPL1" EXACT OMO:0003012 [] xref: MIM:613159 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111118 name: nephronophthisis 11 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19508969] synonym: "NPHP11" EXACT OMO:0003012 [] xref: MIM:613550 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111119 name: nephronophthisis 12 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21258341] synonym: "NPHP12" EXACT OMO:0003012 [] xref: MIM:613820 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111120 name: nephronophthisis 9 def: "A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18199800] synonym: "NPHP9" EXACT OMO:0003012 [] xref: MIM:613824 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111121 name: nephronophthisis 13 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22019273] synonym: "NPHP13" EXACT OMO:0003012 [] xref: MIM:614377 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111122 name: nephronophthisis 14 def: "A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22863007] synonym: "NPHP14" EXACT OMO:0003012 [] xref: MIM:614844 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111123 name: nephronophthisis 15 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22863007] synonym: "NPHP15" EXACT OMO:0003012 [] xref: MIM:614845 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111124 name: nephronophthisis 16 def: "A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23793029] synonym: "NPHP16" EXACT OMO:0003012 [] xref: MIM:615382 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111125 name: nephronophthisis 18 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24882706] synonym: "NPHP18" EXACT OMO:0003012 [] xref: MIM:615862 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111126 name: nephronophthisis 19 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25557784] synonym: "NPHP19" EXACT OMO:0003012 [] xref: MIM:616217 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111127 name: nephronophthisis 20 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28089251] synonym: "NPHP20" EXACT OMO:0003012 [] xref: MIM:617271 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111128 name: focal segmental glomerulosclerosis 1 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1429048] synonym: "FSGS1" EXACT OMO:0003012 [] xref: ICD10CM:N04.1 xref: MIM:603278 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1312 ! focal segmental glomerulosclerosis disjoint_from: DOID:0111129 ! focal segmental glomerulosclerosis 2 [Term] id: DOID:0111129 name: focal segmental glomerulosclerosis 2 def: "A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15924139] synonym: "FSGS2" EXACT OMO:0003012 [] xref: ICD10CM:N04.1 xref: MESH:C565831 xref: MIM:603965 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:0111130 name: focal segmental glomerulosclerosis 5 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20023659] synonym: "FSGS5" EXACT OMO:0003012 [] xref: ICD10CM:N04.1 xref: MESH:C567687 xref: MIM:613237 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:0111131 name: focal segmental glomerulosclerosis 6 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21756023] synonym: "FSGS6" EXACT OMO:0003012 [] xref: ICD10CM:N04.1 xref: MIM:614131 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:0111132 name: focal segmental glomerulosclerosis 7 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24676634] synonym: "FSGS7" EXACT OMO:0003012 [] xref: ICD10CM:N04.1 xref: MIM:616002 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:0111133 name: focal segmental glomerulosclerosis 8 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24676636] synonym: "FSGS8" EXACT OMO:0003012 [] xref: ICD10CM:N04.1 xref: MIM:616032 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:0111134 name: focal segmental glomerulosclerosis 9 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25557779] synonym: "FSGS9" EXACT OMO:0003012 [] xref: ICD10CM:N04.1 xref: MIM:616220 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:0111135 name: congenital generalized lipodystrophy type 1 def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11967537] subset: DO_rare_slim synonym: "Berardinelli-Seip Congenital Lipodystrophy, Type 1" EXACT [] synonym: "Brunzell syndrome AGPAT2-related" EXACT [] xref: GARD:84 xref: ICD10CM:E88.1 xref: MIM:608594 is_a: DOID:0050585 ! congenital generalized lipodystrophy disjoint_from: DOID:0111136 ! congenital generalized lipodystrophy type 2 [Term] id: DOID:0111136 name: congenital generalized lipodystrophy type 2 def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11479539] subset: DO_rare_slim synonym: "Berardinelli-Seip congenital lipodystrophy type 2" EXACT [] synonym: "Berardinelli-Seip syndrome" EXACT [] synonym: "Brunzell syndrome BSCL2-related" EXACT [] synonym: "CGL2" EXACT OMO:0003012 [] synonym: "congenital lipoatrophic diabetes" EXACT [] synonym: "total lipodystrophy and acromegaloid gigantism" EXACT [] xref: GARD:10212 xref: ICD10CM:E88.1 xref: MIM:269700 is_a: DOID:0050585 ! congenital generalized lipodystrophy [Term] id: DOID:0111137 name: congenital generalized lipodystrophy type 3 def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18237401] synonym: "Berardinelli-Seip congenital lipodystrophy type 3" EXACT [] xref: ICD10CM:E88.1 xref: MIM:612526 is_a: DOID:0050585 ! congenital generalized lipodystrophy [Term] id: DOID:0111138 name: congenital generalized lipodystrophy type 4 def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19726876] subset: DO_rare_slim synonym: "Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy" EXACT [] synonym: "congenital generalised lipodystrophy type 4" EXACT [] synonym: "generalised congenital lipodystrophy type 4" EXACT [] synonym: "generalised congenital lipodystrophy with myopathy" EXACT [] synonym: "generalized congenital lipodystrophy type 4" EXACT [] synonym: "generalized congenital lipodystrophy with myopathy" EXACT [] xref: GARD:10937 xref: ICD10CM:E88.1 xref: MIM:613327 xref: ORDO:228429 is_a: DOID:0050585 ! congenital generalized lipodystrophy [Term] id: DOID:0111139 name: mitochondrial complex III deficiency def: "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25914718] subset: DO_rare_slim xref: GARD:8295 xref: MESH:C565128 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0111140 name: IGSF1 deficiency syndrome def: "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26." [url:https\://www.ncbi.nlm.nih.gov/articles/PMC3915563/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23143598] subset: DO_rare_slim synonym: "central hypothyroidism and testicular enlargement" EXACT [] synonym: "CHTE" EXACT OMO:0003012 [] synonym: "X-linked central congenital hypothyroidism with late-onset macroorchidism" EXACT [] synonym: "X-linked central congenital hypothyroidism with late-onset testicular enlargement" EXACT [] xref: ICD10CM:E03.1 xref: MIM:300888 xref: ORDO:329235 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111141 name: delayed sleep phase syndrome def: "A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12736803, url:https\://www.ncbi.nlm.nih.gov/pubmed/17445238] synonym: "DSPD" EXACT OMO:0003012 [] is_a: DOID:535 ! sleep disorder [Term] id: DOID:0111142 name: oligomeganephronia def: "A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9794553] subset: DO_rare_slim synonym: "Oligomeganephronic renal hypoplasia" EXACT [] xref: GARD:4066 xref: ICD10CM:Q60.4 xref: ORDO:2260 is_a: DOID:0080204 ! renal hypoplasia [Term] id: DOID:0111143 name: mitochondrial complex V (ATP synthase) deficiency def: "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21874297] subset: DO_rare_slim xref: GARD:1459 xref: ORDO:254913 xref: SNOMEDCT_US_2023_03_01:780820008 xref: UMLS_CUI:C4757950 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0111144 name: preterm premature rupture of the membranes def: "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15715585/, url:https\://www.ncbi.nlm.nih.gov/pubmed/17400872] synonym: "PPROM" EXACT OMO:0003012 [] xref: MESH:C563032 xref: MIM:610504 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:0111145 name: ureteropelvic junction obstruction def: "A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28695117, url:https\://www.ncbi.nlm.nih.gov/pubmed/28992643, url:https\://www.ncbi.nlm.nih.gov/pubmed/29068584] is_a: DOID:5200 ! urinary tract obstruction [Term] id: DOID:0111146 name: acquired von Willebrand syndrome def: "A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28028990] subset: DO_rare_slim synonym: "AVWS" EXACT OMO:0003012 [] xref: GARD:5573 xref: ICD10CM:D68.04 xref: MEDDRA:10069495 xref: ORDO:99147 xref: SNOMEDCT_US_2023_03_01:60078000 xref: UMLS_CUI:C0272362 is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:0111147 name: angioimmunoblastic T-cell lymphoma def: "A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis." [url:https\://rarediseases.org/rare-diseases/angioimmunoblastic-t-cell-lymphoma/, url:https\://www.lymphoma.org/aboutlymphoma/nhl/aitl/, url:https\://www.ncbi.nlm.nih.gov/pubmed/22700722] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:11973 xref: ICD10CM:C86.5 xref: ICDO:9705/3 xref: MEDDRA:10002449 xref: MESH:D007119 xref: NCI:C7528 xref: ORDO:86886 xref: SNOMEDCT_US_2023_03_01:52097008 xref: UMLS_CUI:C0020981 is_a: DOID:0050749 ! peripheral T-cell lymphoma [Term] id: DOID:0111148 name: isolated ectopia lentis def: "A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20141359] subset: DO_rare_slim subset: NCIthesaurus synonym: "familial ectopia lentis" EXACT [] synonym: "IEL" EXACT OMO:0003012 [] xref: ICD10CM:Q12.1 xref: ICD9CM:743.37 xref: MESH:C536184 xref: MESH:D004479 xref: NCI:C125484 xref: ORDO:1885 xref: SNOMEDCT_US_2023_03_01:231976001 xref: UMLS_CUI:C0013581 xref: UMLS_CUI:C2746069 is_a: DOID:110 ! lens disease [Term] id: DOID:0111149 name: autosomal recessive isolated ectopia lentis 2 def: "An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19200529, url:https\://www.ncbi.nlm.nih.gov/pubmed/20141359] synonym: "ECTOL2" EXACT OMO:0003012 [] xref: MIM:225100 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111148 ! isolated ectopia lentis [Term] id: DOID:0111150 name: autosomal dominant isolated ectopia lentis 1 def: "An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15054843] synonym: "ECTOL1" EXACT OMO:0003012 [] xref: MIM:129600 xref: UMLS_CUI:C1851286 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111148 ! isolated ectopia lentis [Term] id: DOID:0111151 name: Prinzmetal angina def: "A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity." [url:http\://www.heart.org/HEARTORG/Conditions/HeartAttack/DiagnosingaHeartAttack/Prinzmetals-or-Prinzmetal-Angina-Variant-Angina-and-Angina-Inversa_UCM_435674_Article.jsp#.WVavl2cicRk, url:https\://www.ncbi.nlm.nih.gov/pubmed/28613527] synonym: "angina inversa" EXACT [] synonym: "Prinzmetal's angina" EXACT [] synonym: "Prinzmetal's variant angina" EXACT [] synonym: "variant angina" EXACT [] synonym: "variant angina pectoris" EXACT [] xref: MESH:D000788 is_a: DOID:11840 ! coronary artery vasospasm [Term] id: DOID:0111152 name: multicentric Castleman disease def: "A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6." [url:http\://www.bloodjournal.org/content/129/12/1646, url:https\://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease] subset: DO_rare_slim subset: NCIthesaurus synonym: "MCD" EXACT OMO:0003012 [] synonym: "multicentric giant lymph node hyperplasia" EXACT [] synonym: "plasmablastic multicentric Castleman disease" EXACT [] synonym: "PMCD" EXACT OMO:0003012 [] xref: GARD:9644 xref: MESH:C537372 xref: NCI:C27855 xref: ORDO:93686 xref: SNOMEDCT_US_2023_03_01:1156805003 xref: UMLS_CUI:C1334815 is_a: DOID:0111157 ! Castleman disease [Term] id: DOID:0111153 name: congenital mirror movement disorder def: "A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs." [url:https\://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder#sourcesforpage, url:https\://www.ncbi.nlm.nih.gov/pubmed/25763452] subset: DO_rare_slim synonym: "familial congenital controlateral synkinesia" EXACT [] synonym: "familial congenital mirror movements" EXACT [] synonym: "hereditary congenital controlateral synkinesia" EXACT [] synonym: "hereditary congenital mirror movements" EXACT [] synonym: "isolated congenital controlateral synkinesia" EXACT [] synonym: "isolated congenital mirror movements" EXACT [] xref: ORDO:238722 is_a: DOID:0080015 ! physical disorder is_a: DOID:480 ! movement disease [Term] id: DOID:0111154 name: postural orthostatic tachycardia syndrome def: "A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2." [url:https\://rarediseases.info.nih.gov/diseases/9597/postural-orthostatic-tachycardia-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/23580201] subset: DO_rare_slim synonym: "familial orthostatic tachycardia due to norepinephrine transporter deficiency" EXACT [] synonym: "irritable heart" EXACT [] synonym: "mitral valve prolapse syndrome" EXACT [] synonym: "orhtostatic intolerance" EXACT [] synonym: "orthostatic intolerance due to NET deficiency" EXACT [] synonym: "postural tachycardia syndrome due to NET deficiency" EXACT [] synonym: "soldiers heart" EXACT [] xref: GARD:9597 xref: ICD10CM:I95.1 xref: MESH:D054972 xref: MIM:604715 xref: ORDO:443236 is_a: DOID:0050177 ! monogenic disease is_a: DOID:10273 ! heart conduction disease [Term] id: DOID:0111155 name: autosomal recessive spinocerebellar ataxia 21 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26581903] subset: DO_rare_slim synonym: "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia 21 with hepatopathy" EXACT [] synonym: "SCAR21" EXACT OMO:0003012 [] xref: MIM:616719 xref: ORDO:466794 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111156 name: spermatogenic failure 9 alt_id: DOID:0070175 def: "A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14." [url:https\://ghr.nlm.nih.gov/condition/globozoospermia, url:https\://www.ncbi.nlm.nih.gov/pubmed/10471512, url:https\://www.ncbi.nlm.nih.gov/pubmed/21397064] subset: DO_rare_slim synonym: "globozoospermia" EXACT [] synonym: "male infertility due to round-headed spermatozoa" EXACT [] xref: GARD:12502 xref: MIM:613958 xref: ORDO:171709 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112312 ! male infertility due to globozoospermia [Term] id: DOID:0111157 name: Castleman disease def: "A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically." [url:https\://rarediseases.org/rare-diseases/castlemans-disease/] subset: DO_rare_slim subset: NCIthesaurus synonym: "angiofollicular lymph hyperplasia" EXACT [] synonym: "angiofollicular lymph node hyperplasia" EXACT [] synonym: "giant lymph node hyperplasia" EXACT [] synonym: "lymphoid hamartoma" EXACT [] xref: GARD:12656 xref: ICD10CM:D47.Z2 xref: MESH:C536362 xref: MESH:D005871 xref: NCI:C3056 xref: ORDO:160 xref: SNOMEDCT_US_2023_03_01:207036003 xref: UMLS_CUI:C0017531 xref: UMLS_CUI:C2931179 is_a: DOID:0060704 ! lymphoproliferative syndrome [Term] id: DOID:0111158 name: SADDAN def: "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." [url:https\://ghr.nlm.nih.gov/condition/saddan, url:https\://www.ncbi.nlm.nih.gov/pubmed/10053006] subset: DO_rare_slim synonym: "SADDAN dysplasia" EXACT [] synonym: "severe achondroplasia with developmental delay and acanthosis nigricans" EXACT [] xref: GARD:9443 xref: MESH:D000130 xref: MIM:616482 xref: ORDO:85165 xref: SNOMEDCT_US_2023_03_01:699870002 xref: UMLS_CUI:C2674173 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111159 name: partial trisomy distal 4q def: "A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q." [url:https\://rarediseases.org/rare-diseases/chromosome-4-partial-trisomy-distal-4q/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23449628] synonym: "Chromosome 4, Partial Trisomy 4q" EXACT [] synonym: "Distal 4q Trisomy" EXACT [] synonym: "Dup(4q) Syndrome, Partial" EXACT [] synonym: "Duplication 4q Syndrome, Partial" EXACT [] synonym: "Partial Trisomy 4q Syndrome" EXACT [] is_a: DOID:0060429 ! chromosomal duplication syndrome [Term] id: DOID:0111160 name: camptodactyly-tall stature-scoliosis-hearing loss syndrome def: "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." [url:https\://rarediseases.info.nih.gov/diseases/10012/camptodactyly-tall-stature-and-hearing-loss-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/17033969] subset: DO_rare_slim synonym: "CATSHL syndrome" EXACT [] xref: MESH:C537975 xref: MIM:610474 xref: ORDO:85164 xref: SNOMEDCT_US_2023_03_01:720601000 xref: UMLS_CUI:C1864852 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111161 name: Crouzon syndrome-acanthosis nigricans syndrome def: "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." [url:https\://ghr.nlm.nih.gov/condition/crouzon-syndrome-with-acanthosis-nigricans, url:https\://www.ncbi.nlm.nih.gov/pubmed/2650599, url:https\://www.ncbi.nlm.nih.gov/pubmed/7493034] subset: DO_rare_slim synonym: "CAN" EXACT OMO:0003012 [] synonym: "Crouzon-dermoskeletal syndrome" EXACT [] synonym: "Crouzonodermoskeletal syndrome" EXACT [] xref: MIM:612247 xref: ORDO:93262 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080001 ! bone disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111162 name: epidermal nevus alt_id: DOID:0050532 def: "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7526210] synonym: "nonepidermolytic keratinocytic nevus" EXACT [] xref: MESH:C580062 xref: MIM:162900 is_a: DOID:37 ! skin disease [Term] id: DOID:0111163 name: molybdenum cofactor deficiency type B def: "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10053004] subset: DO_rare_slim synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B" EXACT [] synonym: "MOCOD type B" EXACT [] synonym: "MOCODB" EXACT OMO:0003012 [] synonym: "molybdenum cofactor deficiency complementation group B" EXACT [] xref: MESH:C565373 xref: MIM:252160 xref: ORDO:308393 xref: SNOMEDCT_US_2023_03_01:1003368009 xref: UMLS_CUI:C1854989 is_a: DOID:0111165 ! molybdenum cofactor deficiency [Term] id: DOID:0111164 name: molybdenum cofactor deficiency type A def: "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9731530] subset: DO_rare_slim synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" EXACT [] synonym: "MOCOD type A" EXACT [] synonym: "MOCODA" EXACT OMO:0003012 [] synonym: "molybdenum cofactor deficiency complementation group A" EXACT [] xref: MESH:C565372 xref: MIM:252150 xref: ORDO:308386 xref: SNOMEDCT_US_2023_03_01:1003367004 xref: UMLS_CUI:C1854988 is_a: DOID:0111165 ! molybdenum cofactor deficiency [Term] id: DOID:0111165 name: molybdenum cofactor deficiency def: "A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage." [url:https\://en.wikipedia.org/wiki/Molybdenum_cofactor_deficiency, url:https\://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/10746556] subset: DO_rare_slim synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" EXACT [] synonym: "MOCOD" EXACT OMO:0003012 [] xref: GARD:3705 xref: ICD10CM:E72.1 xref: MESH:C535811 xref: MIM:PS252150 xref: ORDO:99732 is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0111166 name: molybdenum cofactor deficiency type C def: "A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11095995] subset: DO_rare_slim synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C" EXACT [] synonym: "MOCOD type C" EXACT [] synonym: "MOCODC" EXACT OMO:0003012 [] synonym: "molybdenum cofactor deficiency complementation group C" EXACT [] xref: MESH:C565374 xref: MIM:615501 xref: ORDO:308400 xref: SNOMEDCT_US_2023_03_01:1003387003 xref: UMLS_CUI:C1854990 is_a: DOID:0111165 ! molybdenum cofactor deficiency [Term] id: DOID:0111167 name: Dyggve-Melchior-Clausen disease def: "A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12491225, url:https\://www.ncbi.nlm.nih.gov/pubmed/21032395] subset: DO_rare_slim synonym: "DMC disease" EXACT [] synonym: "pseudo-Morquio disease type I" EXACT [] xref: GARD:6295 xref: MIM:223800 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:0111168 name: sepiapterin reductase deficiency def: "A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency." [url:https\://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/11443547, url:https\://www.ncbi.nlm.nih.gov/pubmed/15241655, url:https\://www.ncbi.nlm.nih.gov/pubmed/22522443] subset: DO_rare_slim synonym: "dopa-responsive dystonia due to sepiapterin reductase deficiency" EXACT [] synonym: "DRD due to SRD" EXACT [] synonym: "SPR deficiency" EXACT [] synonym: "SRD" EXACT OMO:0003012 [] xref: GARD:10365 xref: MESH:C562657 xref: MIM:612716 xref: ORDO:70594 xref: SNOMEDCT_US_2023_03_01:1187545003 xref: UMLS_CUI:C0268468 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0111169 name: subcortical band heterotopia def: "A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex." [url:https\://rarediseases.info.nih.gov/diseases/1904/subcortical-band-heterotopia, url:https\://www.ncbi.nlm.nih.gov/pubmed/24859200] subset: DO_rare_slim subset: NCIthesaurus synonym: "band heterotopia" EXACT [] synonym: "double cortex syndrome" EXACT [] synonym: "HeCo" EXACT OMO:0003012 [] synonym: "heterotopic cortex" EXACT [] synonym: "subcortical laminar heterotopia" EXACT [] xref: MESH:D054221 xref: MIM:600348 xref: NCI:C116933 xref: ORDO:99796 xref: UMLS_CUI:C1848201 is_a: DOID:2490 ! congenital nervous system abnormality [Term] id: DOID:0111170 name: autosomal dominant sensory ataxia 1 def: "A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15286160] synonym: "ADSA" EXACT OMO:0003012 [] synonym: "SNAX1" EXACT OMO:0003012 [] xref: MIM:608984 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050951 ! hereditary ataxia [Term] id: DOID:0111180 name: French Canadian Leigh disease def: "A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12529507, url:https\://www.ncbi.nlm.nih.gov/pubmed/21266382] subset: DO_rare_slim synonym: "French Canadian type COX deficiency" EXACT [] synonym: "French Canadian type cytochrome c oxidase deficiency" EXACT [] synonym: "French Canadian type Leigh syndrome" EXACT [] synonym: "mitochondrial complex IV deficiency nuclear type 5" EXACT [] synonym: "Saguenay Lac saint Jean type COX deficiency" EXACT [] synonym: "Saguenay Lac saint Jean type Leigh syndrome" EXACT [] xref: GARD:8370 xref: MESH:C537004 xref: MIM:220111 xref: ORDO:70472 xref: SNOMEDCT_US_2023_03_01:718219002 xref: UMLS_CUI:C1857355 is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease [Term] id: DOID:0111181 name: familial hemiplegic migraine 1 def: "A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1388/, url:https\://www.ncbi.nlm.nih.gov/pubmed/8898206] subset: DO_rare_slim synonym: "familial hemiplegic migraine1 with progressive cerebellar ataxia" EXACT [] synonym: "FHM1" EXACT OMO:0003012 [] synonym: "MHP1" EXACT OMO:0003012 [] xref: GARD:2638 xref: MIM:141500 is_a: DOID:0060178 ! familial hemiplegic migraine [Term] id: DOID:0111182 name: familial hemiplegic migraine 2 def: "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12539047] subset: DO_rare_slim synonym: "Familial hemiplegic migraine-2" EXACT [] synonym: "FHM2" EXACT OMO:0003012 [] synonym: "MHP2" EXACT OMO:0003012 [] xref: GARD:10095 xref: MIM:602481 is_a: DOID:0060178 ! familial hemiplegic migraine [Term] id: DOID:0111183 name: familial hemiplegic migraine 3 def: "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16054936] subset: DO_rare_slim synonym: "FHM3" EXACT OMO:0003012 [] synonym: "MHP3" EXACT OMO:0003012 [] xref: GARD:10974 xref: MIM:609634 is_a: DOID:0060178 ! familial hemiplegic migraine [Term] id: DOID:0111184 name: myopathy, lactic acidosis, and sideroblastic anemia 3 def: "A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25037980] synonym: "MLASA3" EXACT OMO:0003012 [] xref: MIM:500011 is_a: DOID:0080099 ! myopathy, lactic acidosis, and sideroblastic anemia [Term] id: DOID:0111185 name: myopathy, lactic acidosis, and sideroblastic anemia 1 def: "A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15108122] synonym: "MLASA1" EXACT OMO:0003012 [] xref: MIM:600462 is_a: DOID:0080099 ! myopathy, lactic acidosis, and sideroblastic anemia [Term] id: DOID:0111186 name: myopathy, lactic acidosis, and sideroblastic anemia 2 def: "A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20598274, url:https\://www.ncbi.nlm.nih.gov/pubmed/24344687] synonym: "MLASA2" EXACT OMO:0003012 [] xref: MIM:613561 is_a: DOID:0080099 ! myopathy, lactic acidosis, and sideroblastic anemia [Term] id: DOID:0111187 name: distal myopathy with anterior tibial onset def: "A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11198284, url:https\://www.ncbi.nlm.nih.gov/pubmed/9731526] subset: DO_rare_slim synonym: "distal muscular dystrophy with anterior tibial onset" EXACT [] synonym: "DMAT" EXACT OMO:0003012 [] xref: MIM:606768 xref: ORDO:178400 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0111188 name: myofibrillar myopathy 9 def: "A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15802564, url:https\://www.ncbi.nlm.nih.gov/pubmed/23486992] subset: DO_rare_slim synonym: "autosomal dominant distal myopathy with early respiratory failure" EXACT [] synonym: "Edstrom myopathy" EXACT [] synonym: "Hereditary inclusion body myopathy with early respiratory failure" EXACT [] synonym: "hereditary myopathy with early respiratory failure" EXACT [] synonym: "HIBM-ERF" EXACT OMO:0003012 [] synonym: "HMERF" EXACT OMO:0003012 [] synonym: "MFM-titinopathy" EXACT [] synonym: "MFM9" EXACT OMO:0003012 [] synonym: "MPRM" EXACT OMO:0003012 [] synonym: "myofibrillar myopathy 9 with early respiratory failure" EXACT [] synonym: "Myofibrillar myopathy-titinopathy" EXACT [] synonym: "proximal myopathy with early respiratory muscle involvement" EXACT [] xref: GARD:12591 xref: MIM:603689 xref: ORDO:178464 is_a: DOID:0080307 ! myofibrillar myopathy [Term] id: DOID:0111189 name: distal myopathy 3 def: "A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13." [url:https\://pubmed.ncbi.nlm.nih.gov/34722876/, url:https\://www.ncbi.nlm.nih.gov/pubmed/12847162, url:https\://www.ncbi.nlm.nih.gov/pubmed/15036327] subset: DO_rare_slim synonym: "distal muscular dystrophy 3" EXACT [] synonym: "distal myopathy type 3" EXACT [] synonym: "MPD3" EXACT OMO:0003012 [] xref: MIM:610099 xref: ORDO:399086 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0111190 name: distal myopathy 4 def: "A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21620354] subset: DO_rare_slim synonym: "distal ABD-filaminopathy" EXACT [] synonym: "distal muscular dystrophy 4" EXACT [] synonym: "distal myopathy with posterior leg and anterior hand involvement" EXACT [] synonym: "MPD4" EXACT OMO:0003012 [] xref: MIM:614065 xref: ORDO:63273 is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0111191 name: distal myopathy Tateyama type def: "A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11805270] subset: DO_rare_slim synonym: "distal muscular dystrophy Tateyama type" EXACT [] xref: MIM:614321 xref: ORDO:488650 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0111192 name: facioscapulohumeral muscular dystrophy 1 def: "A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1363881, url:https\://www.ncbi.nlm.nih.gov/pubmed/15154112] synonym: "facioscapulohumeral muscular dystrophy type 1" EXACT [] synonym: "facioscapulohumeral muscular dystrophy type 1A" EXACT [] synonym: "FSHD1" EXACT OMO:0003012 [] xref: MIM:158900 is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy [Term] id: DOID:0111193 name: facioscapulohumeral muscular dystrophy 2 def: "A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20975055, url:https\://www.ncbi.nlm.nih.gov/pubmed/23143600] synonym: "facioscapulohumeral muscular dystrophy 1B" EXACT [] synonym: "facioscapulohumeral muscular dystrophy type 2" EXACT [] synonym: "FSHD2" EXACT OMO:0003012 [] xref: MIM:158901 is_a: DOID:0080578 ! digenic disease is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy [Term] id: DOID:0111194 name: autosomal dominant adult-onset proximal spinal muscular atrophy def: "A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15372378, url:https\://www.ncbi.nlm.nih.gov/pubmed/7258225] subset: DO_rare_slim synonym: "autosomal dominant adult proximal spinal muscular atrophy" EXACT [] synonym: "autosomal dominant adult-onset proximal SMA" EXACT [] synonym: "autosomal dominant late-onset spinal muscular atrophy, Finkel type" EXACT [] synonym: "Finkel disease" EXACT [] synonym: "Finkel late-adult type SMA" EXACT [] synonym: "SMAFK" EXACT OMO:0003012 [] xref: MIM:182980 xref: ORDO:209335 is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111195 name: erythrokeratodermia variabilis et progressiva 1 def: "An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12019212, url:https\://www.ncbi.nlm.nih.gov/pubmed/9843209] xref: MIM:133200 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111196 name: X-linked distal spinal muscular atrophy 3 def: "A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14985388, url:https\://www.ncbi.nlm.nih.gov/pubmed/20170900] subset: DO_rare_slim synonym: "ATP7A-related distal motor neuropathy" EXACT [] synonym: "DSMAX" EXACT OMO:0003012 [] synonym: "SMAX3" EXACT OMO:0003012 [] synonym: "X-linked dHMN3" EXACT [] synonym: "X-linked distal hereditary motor neuropathy type 3" EXACT [] synonym: "X-linked dSMA3" EXACT [] synonym: "X-linked recessive distal spinal muscular atrophy" EXACT [] xref: MESH:C564506 xref: MIM:300489 xref: ORDO:139557 xref: SNOMEDCT_US_2023_03_01:766764008 xref: UMLS_CUI:C1845359 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111197 name: autosomal recessive distal hereditary motor neuronopathy def: "A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15358725] subset: DO_rare_slim synonym: "autosomal recessive distal spinal muscular atrophy" EXACT [] xref: MIM:PS604320 xref: ORDO:140468 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111198 name: autosomal dominant distal hereditary motor neuronopathy def: "A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15358725] subset: DO_rare_slim synonym: "autosomal dominant dHMN" EXACT [] synonym: "autosomal dominant distal hereditary motor neuropathy" EXACT [] synonym: "autosomal dominant distal spinal muscular atrophy" EXACT [] xref: MIM:PS182960 xref: ORDO:140465 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111199 name: autosomal dominant distal hereditary motor neuronopathy 7 alt_id: DOID:0111201 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23141292, url:https\://www.ncbi.nlm.nih.gov/pubmed/7420092] subset: DO_rare_slim synonym: "dHMN7" EXACT OMO:0003012 [] synonym: "DHMN7A" EXACT OMO:0003012 [] synonym: "DHMNVPy" EXACT OMO:0003012 [] synonym: "distal hereditary motor neuronopathy type 7" EXACT [] synonym: "distal hereditary motor neuropathy type VIIA" EXACT [] synonym: "distal spinal muscular atrophy with vocal cord paralysis" EXACT [] synonym: "distal spinal muscular atrophy with vocal cord paralysis type 7A" EXACT [] synonym: "Harper-Young myopath" EXACT [] synonym: "HMN VIIA" EXACT OMO:0003012 [] synonym: "HMN7A" EXACT OMO:0003012 [] xref: MIM:158580 xref: ORDO:139589 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111200 name: autosomal dominant distal hereditary motor neuronopathy 1 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17354000, url:https\://www.ncbi.nlm.nih.gov/pubmed/7365507] subset: DO_rare_slim subset: NCIthesaurus synonym: "autosomal dominant distal juvenile spinal muscular atrophy type 1" EXACT [] synonym: "dHMN1" EXACT OMO:0003012 [] synonym: "distal hereditary motor neuronopathy type 1" EXACT [] synonym: "distal hereditary motor neuropathy type I" EXACT [] synonym: "HMN I" EXACT OMO:0003012 [] synonym: "spinal Charcot-Marie-Tooth disease 1" EXACT [] xref: MESH:C566675 xref: MIM:182960 xref: NCI:C132826 xref: ORDO:139518 xref: SNOMEDCT_US_2023_03_01:770630005 xref: UMLS_CUI:C1866784 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111201 name: obsolete distal hereditary motor neuronopathy type 7A def: "A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23141292] is_obsolete: true replaced_by: DOID:0111199 [Term] id: DOID:0111202 name: autosomal dominant distal hereditary motor neuronopathy 14 def: "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12627231] synonym: "DHMN7B" EXACT OMO:0003012 [] synonym: "distal hereditary motor neuronopathy type 7B" EXACT [] synonym: "distal hereditary motor neuropathy type VIIB" EXACT [] synonym: "distal spinal muscular atrophy with vocal cord paralysis type 7B" EXACT [] synonym: "Harper-Young myopathy" EXACT [] synonym: "HMN VIIB" EXACT OMO:0003012 [] synonym: "HMN7B" EXACT OMO:0003012 [] xref: MIM:607641 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111203 name: autosomal dominant distal hereditary motor neuronopathy 5 alt_id: DOID:0111204 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12690580, url:https\://www.ncbi.nlm.nih.gov/pubmed/22703882] subset: DO_rare_slim synonym: "DHMN5" EXACT OMO:0003012 [] synonym: "distal hereditary motor neuronopathy type 5" EXACT [] synonym: "distal hereditary motor neuronopathy type 5A" EXACT [] synonym: "distal hereditary motor neuropathy type V" EXACT [] synonym: "distal HMN V" EXACT [] synonym: "distal HMN VA" EXACT [] synonym: "distal spinal muscular atrophy type V" EXACT [] synonym: "distal spinal muscular atrophy type VA" EXACT [] synonym: "distal spinal muscular atrophy with upper limb predominance" EXACT [] synonym: "DSMAV" EXACT OMO:0003012 [] synonym: "HMN5" EXACT OMO:0003012 [] xref: MESH:C563443 xref: MIM:600794 xref: ORDO:139536 xref: SNOMEDCT_US_2023_03_01:1197152005 xref: UMLS_CUI:C1833308 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111204 name: obsolete distal hereditary motor neuronopathy type 5A def: "A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12690580, url:https\://www.ncbi.nlm.nih.gov/pubmed/14981520] is_obsolete: true replaced_by: DOID:0111203 [Term] id: DOID:0111205 name: autosomal dominant distal hereditary motor neuronopathy 12 def: "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22703882] synonym: "distal hereditary motor neuronopathy type 5B" EXACT [] synonym: "distal HMN VB" EXACT [] synonym: "distal spinal muscular atrophy type VB" EXACT [] xref: MIM:614751 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111206 name: autosomal dominant distal hereditary motor neuronopathy 2 alt_id: DOID:0111208 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15122253, url:https\://www.ncbi.nlm.nih.gov/pubmed/1517763] subset: DO_rare_slim synonym: "autosomal dominant adult spinal muscular atrophy IIA" EXACT [] synonym: "distal hereditary motor neuronopathy type 2" EXACT [] synonym: "distal hereditary motor neuronopathy type 2A" EXACT [] synonym: "distal hereditary motor neuropathy type II" EXACT [] synonym: "distal hereditary motor neuropathy type IIA" EXACT [] synonym: "HMN II" EXACT OMO:0003012 [] synonym: "HMN IIA" EXACT OMO:0003012 [] synonym: "HMN2" EXACT OMO:0003012 [] synonym: "HMN2A" EXACT OMO:0003012 [] synonym: "spinal Charcot-Marie-Tooth disease IIA" EXACT [] xref: MESH:C580044 xref: MIM:158590 xref: ORDO:139525 xref: UMLS_CUI:C3711384 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111207 name: autosomal dominant distal hereditary motor neuronopathy 3 def: "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18832141] synonym: "distal hereditary motor neuronopathy type 2B" EXACT [] synonym: "distal hereditary motor neuropathy type IIB" EXACT [] synonym: "HMN IIB" EXACT OMO:0003012 [] synonym: "HMN2B" EXACT OMO:0003012 [] xref: MIM:608634 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111208 name: obsolete distal hereditary motor neuronopathy type 2A def: "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15122253] is_obsolete: true replaced_by: DOID:0111206 [Term] id: DOID:0111209 name: autosomal dominant distal hereditary motor neuronopathy 4 def: "A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20142617] synonym: "DHMN2C" EXACT OMO:0003012 [] synonym: "distal hereditary motor neuronopathy type 2C" EXACT [] synonym: "distal hereditary motor neuropathy type IIC" EXACT [] synonym: "HMN IIC" EXACT OMO:0003012 [] synonym: "HMN2C" EXACT OMO:0003012 [] xref: MIM:613376 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111210 name: autosomal dominant distal hereditary motor neuronopathy 6 def: "A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24207122] synonym: "distal hereditary motor neuronopathy type 2D" EXACT [] synonym: "distal hereditary motor neuropathy type IID" EXACT [] synonym: "distal spinal muscular atrophy with calf predominance" EXACT [] synonym: "HMN IID" EXACT OMO:0003012 [] synonym: "HMN2D" EXACT OMO:0003012 [] xref: MIM:615575 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111211 name: autosomal recessive distal hereditary motor neuronopathy 3 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15054395] subset: DO_rare_slim synonym: "autosomal recessive distal spinal muscular atrophy type 3" EXACT [] synonym: "dHMN3" EXACT OMO:0003012 [] synonym: "dHMN3 and dHMN4" EXACT [] synonym: "dHMN4" EXACT OMO:0003012 [] synonym: "distal hereditary motor neuropathy type 3" EXACT [] synonym: "distal hereditary motor neuropathy type 3 and type 4" EXACT [] synonym: "distal hereditary motor neuropathy type 4" EXACT [] synonym: "distal spinal muscular atrophy type 3" EXACT [] synonym: "dSMA3" EXACT OMO:0003012 [] xref: MESH:C564626 xref: MIM:607088 xref: ORDO:139547 xref: SNOMEDCT_US_2023_03_01:770430000 xref: UMLS_CUI:C1846823 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0111212 name: autosomal dominant distal hereditary motor neuronopathy 9 def: "An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28369220] synonym: "DHMN9" EXACT OMO:0003012 [] synonym: "distal hereditary motor neuronopathy type 9" EXACT [] synonym: "distal hereditary motor neuropathy type IX" EXACT [] synonym: "HMN9" EXACT OMO:0003012 [] xref: MIM:617721 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111213 name: autosomal recessive distal hereditary motor neuronopathy 4 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16728649, url:https\://www.ncbi.nlm.nih.gov/pubmed/17564964] subset: DO_rare_slim synonym: "autosomal recessive distal spinal muscular atrophy type 4" EXACT [] synonym: "autosomal recessive lower motor neuron disease with childhood onset" EXACT [] synonym: "distal spinal muscular atrophy type 4" EXACT [] synonym: "DSMA4" EXACT OMO:0003012 [] xref: MESH:C567023 xref: MIM:611067 xref: ORDO:206580 xref: SNOMEDCT_US_2023_03_01:771302009 xref: UMLS_CUI:C1970211 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0111214 name: autosomal recessive distal hereditary motor neuronopathy 5 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22522442, url:https\://www.ncbi.nlm.nih.gov/pubmed/25274842] subset: DO_rare_slim synonym: "autosomal recessive distal spinal muscular atrophy type 5" EXACT [] synonym: "distal spinal muscular atrophy type 5" EXACT [] synonym: "DSMA5" EXACT OMO:0003012 [] synonym: "young adult-onset dHMN" EXACT [] synonym: "young adult-onset distal hereditary motor neuropathy" EXACT [] xref: MIM:614881 xref: ORDO:314485 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0111215 name: autosomal dominant distal hereditary motor neuronopathy 8 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20037588, url:https\://www.ncbi.nlm.nih.gov/pubmed/21336783, url:https\://www.ncbi.nlm.nih.gov/pubmed/4056805] synonym: "autosomal dominant benign distal spinal muscular atrophy" EXACT [] synonym: "autosomal dominant congenital benign spinal muscular atrophy" EXACT [] synonym: "congenital benign spinal muscular atrophy with contractures" EXACT [] synonym: "congenital nonprogressive spinal muscular atrophy" EXACT [] synonym: "DHMN8" EXACT OMO:0003012 [] synonym: "distal hereditary motor neuronopathy type 8" EXACT [] synonym: "distal hereditary motor neuropathy type VIII" EXACT [] synonym: "HMN8" EXACT OMO:0003012 [] xref: MIM:600175 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111216 name: autosomal recessive centronuclear myopathy def: "A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30103348] subset: DO_rare_slim synonym: "AR-CNM" EXACT OMO:0003012 [] xref: GARD:12718 xref: ORDO:169186 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14717 ! centronuclear myopathy [Term] id: DOID:0111217 name: autosomal dominant centronuclear myopathy def: "A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30103348] subset: DO_rare_slim synonym: "AD-CNM" EXACT OMO:0003012 [] xref: GARD:12719 xref: ICD10CM:G71.228 xref: MESH:D020914 xref: ORDO:169189 xref: SNOMEDCT_US_2023_03_01:716696006 xref: UMLS_CUI:C1834558 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14717 ! centronuclear myopathy [Term] id: DOID:0111218 name: Friedreich ataxia 1 def: "A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10500204, url:https\://www.ncbi.nlm.nih.gov/pubmed/10543403] synonym: "FA1" EXACT OMO:0003012 [] synonym: "FRDA1" EXACT OMO:0003012 [] xref: MESH:C565561 xref: MIM:229300 is_a: DOID:12705 ! Friedreich ataxia [Term] id: DOID:0111219 name: Friedreich ataxia 2 def: "A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11523563] synonym: "FRDA2" EXACT OMO:0003012 [] xref: MESH:C566594 xref: MIM:601992 is_a: DOID:12705 ! Friedreich ataxia [Term] id: DOID:0111220 name: centronuclear myopathy 2 def: "An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17676042] synonym: "CNM2" EXACT OMO:0003012 [] xref: MESH:C562934 xref: MIM:255200 xref: SNOMEDCT_US_2023_03_01:240081004 xref: UMLS_CUI:C0410204 is_a: DOID:0111216 ! autosomal recessive centronuclear myopathy [Term] id: DOID:0111221 name: centronuclear myopathy 6 with fiber-type disproportion def: "An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27816943] synonym: "CNM6" EXACT OMO:0003012 [] xref: MIM:617760 is_a: DOID:0111216 ! autosomal recessive centronuclear myopathy [Term] id: DOID:0111222 name: centronuclear myopathy 5 def: "An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25087613] synonym: "CNM5" EXACT OMO:0003012 [] xref: MIM:615959 is_a: DOID:0111216 ! autosomal recessive centronuclear myopathy [Term] id: DOID:0111223 name: centronuclear myopathy 1 def: "An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16227997] synonym: "CNM1" EXACT OMO:0003012 [] xref: MIM:160150 is_a: DOID:0111217 ! autosomal dominant centronuclear myopathy [Term] id: DOID:0111224 name: centronuclear myopathy 4 def: "An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22818856] synonym: "CNM4" EXACT OMO:0003012 [] xref: MIM:614807 is_a: DOID:0111217 ! autosomal dominant centronuclear myopathy [Term] id: DOID:0111225 name: centronuclear myopathy X-linked def: "A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8640223] subset: DO_rare_slim subset: NCIthesaurus synonym: "CNMX" EXACT OMO:0003012 [] synonym: "MTM1" EXACT OMO:0003012 [] synonym: "myotubular myopathy 1" EXACT [] synonym: "X-linked myotubular myopathy" EXACT [] synonym: "XLCNM" EXACT OMO:0003012 [] synonym: "XLMTM" EXACT OMO:0003012 [] xref: GARD:11925 xref: ICD10CM:G71.220 xref: MESH:D020914 xref: MIM:310400 xref: NCI:C118781 xref: ORDO:596 xref: SNOMEDCT_US_2023_03_01:46804001 xref: UMLS_CUI:C0410203 is_a: DOID:14717 ! centronuclear myopathy [Term] id: DOID:0111226 name: X-linked congenital myopathy with fiber-type disproportion def: "A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16173074] synonym: "CFTDX" EXACT OMO:0003012 [] xref: MIM:300580 is_a: DOID:0080102 ! congenital myopathy 4A [Term] id: DOID:0111227 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 7 alt_id: DOID:0060208 def: "A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2." [url:https\://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia/#resources, url:https\://www.ncbi.nlm.nih.gov/books/NBK1199/, url:https\://www.ncbi.nlm.nih.gov/pubmed/16041373] synonym: "ALS17" EXACT OMO:0003012 [] synonym: "AMYOTROPHIC LATERAL SCLEROSIS" EXACT [] synonym: "AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY)" EXACT [] synonym: "amyotrophic lateral sclerosis type 17" EXACT [] synonym: "CHMP2B-RELATED" EXACT [] synonym: "CHMP2B-related frontotemporal dementia" EXACT [] synonym: "chromosome 3-linked frontotemporal dementia" EXACT [] synonym: "FRONTOTEMPORAL DEMENTIA" EXACT [] synonym: "FTD3" EXACT OMO:0003012 [] synonym: "FTDALS7" EXACT OMO:0003012 [] xref: MESH:C579991 xref: MIM:600795 is_a: DOID:332 ! amyotrophic lateral sclerosis is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:0111228 name: Sveinsson chorioretinal atrophy def: "An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15016762, url:https\://www.ncbi.nlm.nih.gov/pubmed/419979] subset: DO_rare_slim synonym: "atrophia areata" EXACT [] synonym: "helicoid peripapillary chorioretinal degeneration" EXACT [] synonym: "HPCD" EXACT OMO:0003012 [] synonym: "peripapillary chorioretinal degeneration, Icelandic type" EXACT [] synonym: "SCRA" EXACT OMO:0003012 [] xref: MESH:C566236 xref: MIM:108985 xref: ORDO:86813 xref: SNOMEDCT_US_2023_03_01:724384008 xref: UMLS_CUI:C1862382 is_a: DOID:5614 ! eye disease [Term] id: DOID:0111229 name: congenital muscular dystrophy-dystroglycanopathy type A def: "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23453667] subset: DO_rare_slim synonym: "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies" EXACT [] synonym: "klissencephaly type 2 with muscular and ocular involvement" EXACT [] synonym: "MDDGA" EXACT OMO:0003012 [] xref: MIM:PS236670 xref: ORDO:352687 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy [Term] id: DOID:0111230 name: congenital muscular dystrophy-dystroglycanopathy type A11 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23453667] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11" EXACT [] synonym: "MDDGA11" EXACT OMO:0003012 [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related" EXACT [] xref: MIM:615181 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111231 name: congenital muscular dystrophy-dystroglycanopathy type A8 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22958903] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8" EXACT [] synonym: "MDDGA8" EXACT OMO:0003012 [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related" EXACT [] xref: MIM:614830 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111232 name: congenital muscular dystrophy-dystroglycanopathy type A9 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24052401] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9" EXACT [] synonym: "MDDGA9" EXACT OMO:0003012 [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related" EXACT [] xref: MIM:616538 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111233 name: congenital muscular dystrophy-dystroglycanopathy A14 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23768512] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14" EXACT [] synonym: "MDDGA14" EXACT OMO:0003012 [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related" EXACT [] xref: MIM:615350 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111234 name: congenital muscular dystrophy-dystroglycanopathy A7 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22522420] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7" EXACT [] synonym: "MDDGA7" EXACT OMO:0003012 [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related" EXACT [] xref: MIM:614643 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111235 name: congenital muscular dystrophy-dystroglycanopathy type A12 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23519211] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12" EXACT [] synonym: "MDDGA12" EXACT OMO:0003012 [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease POMK-related" EXACT [] xref: MIM:615249 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111236 name: congenital muscular dystrophy-dystroglycanopathy type A3 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11709191] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3" EXACT [] synonym: "MDDGA3" EXACT OMO:0003012 [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related" EXACT [] xref: MIM:253280 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111237 name: congenital muscular dystrophy-dystroglycanopathy type A1 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12369018] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1" EXACT [] synonym: "MDDGA1" EXACT OMO:0003012 [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related" EXACT [] xref: MIM:236670 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111238 name: congenital muscular dystrophy-dystroglycanopathy type A13 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23359570] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13" EXACT [] synonym: "MDDGA13" EXACT OMO:0003012 [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related" EXACT [] xref: MIM:615287 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111239 name: congenital muscular dystrophy-dystroglycanopathy type A10 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23217329] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10" EXACT [] synonym: "MDDGA10" EXACT OMO:0003012 [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related" EXACT [] xref: MIM:615041 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111240 name: congenital muscular dystrophy-dystroglycanopathy type A2 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15894594] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2" EXACT [] synonym: "MDDGA2" EXACT OMO:0003012 [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related" EXACT [] xref: MIM:613150 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111241 name: congenital muscular dystrophy-dystroglycanopathy type A5 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15121789] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5" EXACT [] synonym: "MDDGA5" EXACT OMO:0003012 [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related" EXACT [] xref: MIM:613153 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111242 name: congenital muscular dystrophy-dystroglycanopathy type A6 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17436019] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6" EXACT [] synonym: "MDDGA6" EXACT OMO:0003012 [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related" EXACT [] xref: MIM:613154 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111243 name: acromicric dysplasia def: "An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21683322, url:https\://www.ncbi.nlm.nih.gov/pubmed/3728563] subset: DO_rare_slim synonym: "ACMICD" EXACT OMO:0003012 [] synonym: "acromicric skeletal dysplasia" EXACT [] xref: GARD:7 xref: MESH:C535662 xref: MIM:102370 xref: ORDO:969 xref: SNOMEDCT_US_2023_03_01:254090007 xref: UMLS_CUI:C0265287 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0111244 name: palmoplantar keratoderma and congenital alopecia 1 def: "An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20635335, url:https\://www.ncbi.nlm.nih.gov/pubmed/25168385] subset: DO_rare_slim synonym: "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia" EXACT [] synonym: "autosomal dominant palmoplantar keratoderma and congenital alopecia" EXACT [] synonym: "keratoderma-hypotrichosis-leukonychia totalis syndrome" EXACT [] synonym: "palmoplantar keratoderma and congenital alopecia, Stevanovic type" EXACT [] synonym: "PPK-CA, Stevanovic type" EXACT [] synonym: "PPKCA Stevanovic type" EXACT [] synonym: "PPKCA1" EXACT OMO:0003012 [] xref: GARD:604 xref: MESH:C537050 xref: MIM:104100 xref: ORDO:1010 xref: UMLS_CUI:C1863093 is_a: DOID:0080015 ! physical disorder is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111245 name: palmoplantar keratoderma and congenital alopecia 2 def: "An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20635335] subset: DO_rare_slim synonym: "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia" EXACT [] synonym: "autosomal recessive palmoplantar keratoderma and congenital alopecia" EXACT [] synonym: "CASS" EXACT OMO:0003012 [] synonym: "cataract-alopecia-sclerodactyly syndrome" EXACT [] synonym: "palmoplantar keratoderma and congenital alopecia, Wallis type" EXACT [] synonym: "PPK-CA, Wallis type" EXACT [] synonym: "PPKCA Wallis type" EXACT [] synonym: "PPKCA2" EXACT OMO:0003012 [] xref: MESH:C535336 xref: MIM:212360 xref: ORDO:1366 xref: UMLS_CUI:C1859316 is_a: DOID:0080015 ! physical disorder is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111246 name: amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 def: "A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16051700, url:https\://www.ncbi.nlm.nih.gov/pubmed/5770171] subset: DO_rare_slim synonym: "ALS-PDC" EXACT OMO:0003012 [] synonym: "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome" EXACT [] synonym: "amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam" EXACT [] synonym: "Guam disease" EXACT [] synonym: "Lytico-Bodig disease" EXACT [] synonym: "parkinsonism-dementia-ALS complex" EXACT [] synonym: "PDALS" EXACT OMO:0003012 [] xref: GARD:9239 xref: MESH:D000690 xref: MIM:105500 xref: ORDO:90020 xref: SNOMEDCT_US_2023_03_01:62239001 xref: UMLS_CUI:C0543859 is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:0111247 name: hypertension and brachydactyly syndrome def: "A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25961942, url:https\://www.ncbi.nlm.nih.gov/pubmed/4774535] subset: DO_rare_slim synonym: "Bilginturan brachydactyly" EXACT [] synonym: "Bilginturan syndrome" EXACT [] synonym: "brachydactyly with hypertension" EXACT [] synonym: "HTNB" EXACT OMO:0003012 [] synonym: "type E brachydactyly with short stature and hypertension" EXACT [] xref: GARD:967 xref: MESH:C537095 xref: MIM:112410 xref: ORDO:1276 xref: SNOMEDCT_US_2023_03_01:720568003 xref: UMLS_CUI:C1862170 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111248 name: cerebrocostomandibular syndrome def: "A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19008299, url:https\://www.ncbi.nlm.nih.gov/pubmed/25047197] subset: DO_rare_slim synonym: "CCM syndrome" EXACT [] synonym: "CCMS" EXACT OMO:0003012 [] synonym: "cerebro-costo-mandibular syndrome" EXACT [] synonym: "rib gap defects with micrognathia" EXACT [] xref: GARD:6026 xref: MESH:C562538 xref: MIM:117650 xref: ORDO:1393 xref: SNOMEDCT_US_2023_03_01:51780007 xref: UMLS_CUI:C0265342 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111249 name: uveal coloboma-cleft lip and palate-intellectual disability def: "A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24462371] subset: DO_rare_slim synonym: "COB1" EXACT OMO:0003012 [] synonym: "coloboma-microphthalmos syndrome" EXACT [] synonym: "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate" EXACT [] synonym: "ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation" EXACT [] synonym: "Uveal coloboma-cleft lip/palate-mental retardation syndrome" EXACT [] xref: GARD:1440 xref: MESH:C535971 xref: MIM:120433 xref: ORDO:1473 xref: UMLS_CUI:C0795902 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111250 name: Parkinson's disease 3 def: "A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14663042, url:https\://www.ncbi.nlm.nih.gov/pubmed/9500549] synonym: "autosomal dominant Lewy body Parkinson disease 3" EXACT [] synonym: "autosomal dominant Parkinson disease 3" EXACT [] synonym: "PARK3" EXACT OMO:0003012 [] synonym: "Parkinson disease 3" EXACT [] xref: MIM:602404 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0111251 name: Parkinson's disease 21 def: "A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24218364, url:https\://www.ncbi.nlm.nih.gov/pubmed/27270108] synonym: "PARK21" EXACT OMO:0003012 [] synonym: "Parkinson disease 21" EXACT [] xref: MIM:616361 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0111252 name: vestibular schwannomatosis def: "A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2." [url:https\://pubmed.ncbi.nlm.nih.gov/35674741/] subset: DO_rare_slim subset: NCIthesaurus synonym: "ACN" EXACT OMO:0003012 [] synonym: "acoustic neurofibromatosis" EXACT [] synonym: "BANF" EXACT OMO:0003012 [] synonym: "bilateral acoustic neurinoma" EXACT [] synonym: "bilateral acoustic neurofibromatosis" EXACT [] synonym: "bilateral acoustic schwannomas" EXACT [] synonym: "central neurofibromatosis" EXACT [] synonym: "familial acoustic neuromas" EXACT [] synonym: "neurofibromatosis 2" EXACT [] synonym: "neurofibromatosis type II" EXACT [] synonym: "NF2" EXACT OMO:0003012 [] synonym: "NF2-related schwannomatosis" EXACT [] synonym: "schwannomatosis 3" EXACT [] synonym: "SWN3" EXACT OMO:0003012 [] synonym: "SWNV" EXACT OMO:0003012 [] xref: GARD:7193 xref: ICD10CM:Q85.02 xref: ICD9CM:237.72 xref: MESH:D016518 xref: MIM:101000 xref: NCI:C3274 xref: ORDO:637 xref: SNOMEDCT_US_2023_03_01:92503002 xref: UMLS_CUI:C0027832 is_a: DOID:3204 ! schwannomatosis property_value: exactMatch "GARD:7193" xsd:string property_value: exactMatch "ICD10CM:Q85.02" xsd:string property_value: exactMatch "ICD9CM:237.72" xsd:string property_value: exactMatch "MESH:D016518" xsd:string property_value: exactMatch "MIM:101000" xsd:string property_value: exactMatch "NCI:C3274" xsd:string property_value: exactMatch "ORDO:637" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:92503002" xsd:string property_value: exactMatch "UMLS_CUI:C0027832" xsd:string property_value: narrowMatch "ORDO:634475" xsd:string [Term] id: DOID:0111253 name: neurofibromatosis 1 def: "A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone." [url:https\://pubmed.ncbi.nlm.nih.gov/34012067/, url:https\://pubmed.ncbi.nlm.nih.gov/35698197/] subset: DO_rare_slim subset: NCIthesaurus synonym: "neurofibromatosis type I" EXACT [] synonym: "NF1" EXACT OMO:0003012 [] synonym: "Peripheral Neurofibromatosis" EXACT [] synonym: "Recklinghausen's neurofibromatosis" EXACT [] synonym: "von Recklinghausen Disease" EXACT [] xref: ICD10CM:Q85.01 xref: ICD9CM:237.71 xref: MESH:D009456 xref: MIM:162200 xref: NCI:C3273 xref: ORDO:636 xref: SNOMEDCT_US_2023_03_01:92824003 xref: UMLS_CUI:C0027831 is_a: DOID:8712 ! neurofibromatosis property_value: exactMatch "ICD10CM:Q85.01" xsd:string property_value: exactMatch "ICD9CM:237.71" xsd:string property_value: exactMatch "MESH:D009456" xsd:string property_value: exactMatch "MIM:162200" xsd:string property_value: exactMatch "NCI:C3273" xsd:string property_value: exactMatch "ORDO:636" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:92824003" xsd:string property_value: exactMatch "UMLS_CUI:C0027831" xsd:string [Term] id: DOID:0111254 name: glutaric acidemia I def: "An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16602100] subset: DO_rare_slim synonym: "GA1" EXACT OMO:0003012 [] synonym: "glutaric academia type 1" EXACT [] synonym: "glutaric aciduria 1" EXACT [] synonym: "glutaric aciduria type I" EXACT [] synonym: "glutaryl-coA dehydrogenase deficiency" EXACT [] synonym: "glutaryl-coenzyme A dehydrogenase deficiency" EXACT [] xref: GARD:6522 xref: MESH:C536833 xref: MIM:231670 xref: ORDO:25 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060159 ! organic acidemia [Term] id: DOID:0111255 name: McKusick-Kaufman syndrome def: "A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10802661, url:https\://www.ncbi.nlm.nih.gov/pubmed/21044901] subset: DO_rare_slim synonym: "HMCS" EXACT OMO:0003012 [] synonym: "hydrometrocolpos syndrome" EXACT [] synonym: "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation" EXACT [] synonym: "hydrometrocolpos-postaxial polydactyly syndrome" EXACT [] synonym: "Kaufman McKusick syndrome" EXACT [] synonym: "MKKS" EXACT OMO:0003012 [] xref: GARD:3427 xref: MEDDRA:10052312 xref: MESH:C538159 xref: MIM:236700 xref: ORDO:2473 xref: SNOMEDCT_US_2023_03_01:702407009 xref: UMLS_CUI:C0948368 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111256 name: hyperferritinemia-cataract syndrome def: "A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7493028, url:https\://www.ncbi.nlm.nih.gov/pubmed/7669675] subset: DO_rare_slim synonym: "Bonneau-Beaumont syndrome" EXACT [] synonym: "cataract-hyperferritinemia syndrome" EXACT [] synonym: "hereditary hyperferritinemia with congenital cataracts" EXACT [] synonym: "hereditary hyperferritinemia-cataract syndrome" EXACT [] synonym: "HHCS" EXACT OMO:0003012 [] synonym: "HRFTC" EXACT OMO:0003012 [] synonym: "hyperferritinemia with or without cataract" EXACT [] xref: GARD:2806 xref: MESH:C538137 xref: MIM:600886 xref: ORDO:163 xref: SNOMEDCT_US_2023_03_01:702398007 xref: UMLS_CUI:C1833213 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111257 name: gamma-glutamyl transpeptidase deficiency def: "An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29483667] subset: DO_rare_slim synonym: "gamma-glutamyl transferase deficiency" EXACT [] synonym: "GGT deficiency" EXACT [] synonym: "GGT1 deficiency" EXACT [] synonym: "glutathionuria" EXACT [] synonym: "GTG deficiency" EXACT [] xref: GARD:10099 xref: MESH:C536836 xref: MIM:231950 xref: ORDO:33573 xref: SNOMEDCT_US_2023_03_01:78586005 xref: UMLS_CUI:C0268524 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111258 name: pentosuria def: "An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22042873] subset: DO_rare_slim synonym: "essential pentosuria" EXACT [] synonym: "L-xylulose reductase deficiency" EXACT [] synonym: "L-xylulosuria" EXACT [] synonym: "PNTSU" EXACT OMO:0003012 [] synonym: "xylitol dehydrogenase deficiency" EXACT [] xref: GARD:418 xref: ICD10CM:E74.89 xref: MEDDRA:10064170 xref: MESH:C536652 xref: MIM:260800 xref: ORDO:2843 xref: SNOMEDCT_US_2023_03_01:190764000 xref: UMLS_CUI:C0268162 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111259 name: postaxial acrofacial dysostosis def: "A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19915526, url:https\://www.ncbi.nlm.nih.gov/pubmed/501501] subset: DO_rare_slim synonym: "acrofacial dysostosis, Genee-Wiedmann type" EXACT [] synonym: "mandibulfacial dysostosis with postaxial limb anomalies" EXACT [] synonym: "Miller syndrome" EXACT [] synonym: "POADS" EXACT OMO:0003012 [] synonym: "Postaxial acrodysostosis" EXACT [] xref: GARD:8410 xref: MESH:C537680 xref: MIM:263750 xref: ORDO:246 xref: SNOMEDCT_US_2023_03_01:66038001 xref: UMLS_CUI:C0265257 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111260 name: phosphoribosylpyrophosphate synthetase superactivity def: "An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20301734, url:https\://www.ncbi.nlm.nih.gov/pubmed/8253776] subset: DO_rare_slim synonym: "PRPP synthetase superactivity" EXACT [] synonym: "PRPS1 superactivity" EXACT [] xref: MESH:C567064 xref: MIM:300661 xref: ORDO:3222 xref: SNOMEDCT_US_2023_03_01:723454008 xref: UMLS_CUI:C1970827 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111261 name: fumarase deficiency def: "An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22069215, url:https\://www.ncbi.nlm.nih.gov/pubmed/8200987] subset: DO_rare_slim synonym: "FMRD" EXACT OMO:0003012 [] synonym: "fumaric aciduria" EXACT [] xref: GARD:6476 xref: MESH:C538191 xref: MIM:606812 xref: ORDO:24 xref: SNOMEDCT_US_2023_03_01:237983002 xref: UMLS_CUI:C0342770 xref: UMLS_CUI:C2936826 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111262 name: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly def: "A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20950787] subset: DO_rare_slim synonym: "postnatal progressive microcephaly, seizures, and brain atrophy" EXACT [] xref: GARD:10995 xref: MIM:613668 xref: ORDO:402364 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:936 ! brain disease [Term] id: DOID:0111263 name: combined malonic and methylmalonic acidemia def: "An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21841779, url:https\://www.ncbi.nlm.nih.gov/pubmed/9700595] subset: DO_rare_slim synonym: "CMAMMA" EXACT OMO:0003012 [] synonym: "combined malonic and methylmalonic aciduria" EXACT [] xref: GARD:10818 xref: MESH:C580002 xref: MIM:614265 xref: ORDO:289504 xref: SNOMEDCT_US_2023_03_01:702365002 xref: UMLS_CUI:C3280314 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060159 ! organic acidemia [Term] id: DOID:0111264 name: Ruijs-Aalfs syndrome def: "A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25261934] subset: DO_rare_slim synonym: "progeroid features-hepatocellular carcinoma predisposition syndrome" EXACT [] xref: MIM:616200 xref: ORDO:435953 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111265 name: Boucher-Neuhauser syndrome def: "A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24355708] subset: DO_rare_slim synonym: "ataxia-hypogonadism-choroidal dystrophy syndrome" EXACT [] xref: GARD:944 xref: MESH:C565850 xref: MIM:215470 xref: ORDO:1180 xref: SNOMEDCT_US_2023_03_01:715984007 xref: UMLS_CUI:C1859093 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111266 name: geroderma osteodysplasticum def: "A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18997784, url:https\://www.ncbi.nlm.nih.gov/pubmed/26000619] subset: DO_rare_slim synonym: "geroderma osteodysplastica" EXACT [] synonym: "gerodermia osteodysplastica" EXACT [] synonym: "GO" EXACT OMO:0003012 [] synonym: "Walt Disney dwarfism" EXACT [] xref: GARD:413 xref: MESH:C537799 xref: MIM:231070 xref: ORDO:2078 xref: SNOMEDCT_US_2023_03_01:254116003 xref: UMLS_CUI:C0432255 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111267 name: hyaline body myopathy def: "A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22918376] subset: DO_rare_slim synonym: "myosin storage myopathy" EXACT [] xref: GARD:7148 xref: ORDO:53698 is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0111268 name: autosomal recessive hyaline body myopathy def: "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17372140] synonym: "congenital myopathy 7B" EXACT [] synonym: "MSMB" EXACT OMO:0003012 [] synonym: "Myopathy, myosin storage, autosomal recessive" EXACT [] xref: MIM:255160 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111267 ! hyaline body myopathy [Term] id: DOID:0111269 name: autosomal dominant hyaline body myopathy def: "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16684601] synonym: "congenital myopathy 7A" EXACT [] synonym: "MSMA" EXACT OMO:0003012 [] synonym: "myopathy with lysis of type I myofibrils" EXACT [] synonym: "Myopathy, myosin storage, autosomal dominant" EXACT [] xref: MIM:608358 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111267 ! hyaline body myopathy [Term] id: DOID:0111270 name: isolated sulfite oxidase deficiency def: "An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2." [url:https\://www.ncbi.nlm.nih.gov/books/NBK453433/, url:https\://www.ncbi.nlm.nih.gov/pubmed/6025118, url:https\://www.ncbi.nlm.nih.gov/pubmed/9428520] subset: DO_rare_slim synonym: "sulfocysteinuria" EXACT [] xref: GARD:5062 xref: ICD10CM:E72.19 xref: MESH:C538141 xref: MIM:272300 xref: ORDO:99731 xref: SNOMEDCT_US_2023_03_01:237935000 xref: SNOMEDCT_US_2023_03_01:40873003 xref: UMLS_CUI:C0268624 xref: UMLS_CUI:C2931746 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111271 name: Oliver-McFarlane syndrome def: "A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25480986] subset: DO_rare_slim synonym: "eyelashes long mental retardation" EXACT [] synonym: "long eyelashes-intellectual disability syndrome" EXACT [] synonym: "OMCS" EXACT OMO:0003012 [] synonym: "trichomegaly-retina pigmentary degeneration-dwarfism syndrome" EXACT [] xref: GARD:5266 xref: MESH:C536554 xref: MIM:275400 xref: ORDO:3363 xref: SNOMEDCT_US_2023_03_01:719944006 xref: UMLS_CUI:C1848745 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111272 name: occipital horn syndrome def: "A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7842019, url:https\://www.ncbi.nlm.nih.gov/pubmed/7887410] subset: DO_rare_slim synonym: "EDS IX" EXACT OMO:0003012 [] synonym: "Ehlers-Danlos syndrome type 9" EXACT [] synonym: "Ehlers-Danlos syndrome type IX" EXACT [] synonym: "X-linked cutis laxa" EXACT [] xref: GARD:4017 xref: MESH:C537860 xref: MIM:304150 xref: ORDO:198 xref: SNOMEDCT_US_2023_03_01:59399004 xref: UMLS_CUI:C0268353 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0111273 name: NARP syndrome def: "A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2137962] subset: DO_rare_slim synonym: "Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome" EXACT [] synonym: "neuropathy, ataxia and retinitis pigmentosa" EXACT [] synonym: "Neuropathy-ataxia-retinitis pigmentosa syndrome" EXACT [] xref: GARD:262 xref: MEDDRA:10062940 xref: MESH:C537396 xref: MIM:551500 xref: ORDO:644 xref: SNOMEDCT_US_2023_03_01:237984008 xref: UMLS_CUI:C1328349 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0111274 name: CODAS syndrome def: "A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25574826] subset: DO_rare_slim subset: NCIthesaurus synonym: "cerebral, ocular, dental, auricular, and skeletal syndrome" EXACT [] synonym: "cerebro-oculo-dento-auriculo-skeletal syndrome" EXACT [] xref: GARD:1418 xref: MESH:C536434 xref: MIM:600373 xref: NCI:C126744 xref: ORDO:1458 xref: SNOMEDCT_US_2023_03_01:717772000 xref: UMLS_CUI:C1838180 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111275 name: speech-language disorder-1 def: "A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11586359, url:https\://www.ncbi.nlm.nih.gov/pubmed/1934976] subset: DO_rare_slim synonym: "articulatory apraxia" EXACT [] synonym: "CAS" EXACT OMO:0003012 [] synonym: "childhood apraxia of speech" EXACT [] synonym: "developmental apraxia of speech" EXACT [] synonym: "developmental verbal dyspraxia" EXACT [] synonym: "speech and language disorder with orofacial dyspraxia" EXACT [] synonym: "speech-language disorder type 1" EXACT [] xref: GARD:12889 xref: MIM:602081 xref: ORDO:209908 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:92 ! speech disorder [Term] id: DOID:0111276 name: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis def: "A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12565911, url:https\://www.ncbi.nlm.nih.gov/pubmed/20220442, url:https\://www.ncbi.nlm.nih.gov/pubmed/9222196] subset: DO_rare_slim synonym: "autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions" EXACT [] synonym: "SANDO" EXACT OMO:0003012 [] xref: MESH:C537583 xref: MIM:607459 xref: ORDO:70595 xref: SNOMEDCT_US_2023_03_01:717266001 xref: UMLS_CUI:C1843851 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0111277 name: mitochondrial trifunctional protein deficiency def: "A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12754706, url:https\://www.ncbi.nlm.nih.gov/pubmed/12838198, url:https\://www.ncbi.nlm.nih.gov/pubmed/7738175] subset: DO_rare_slim subset: NCIthesaurus synonym: "MTPD" EXACT OMO:0003012 [] synonym: "TFP deficiency" EXACT [] synonym: "TFPD" EXACT OMO:0003012 [] xref: GARD:3684 xref: MESH:C566945 xref: MIM:PS609015 xref: NCI:C98991 xref: ORDO:746 xref: SNOMEDCT_US_2023_03_01:237999008 xref: UMLS_CUI:C1969443 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0111278 name: histiocytosis-lymphadenopathy plus syndrome def: "A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20140240] subset: DO_rare_slim subset: NCIthesaurus synonym: "cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss" EXACT [] synonym: "Faisalabad histiocytosis" EXACT [] synonym: "familial Rosai-Dorfman disease" EXACT [] synonym: "H syndrome" EXACT [] synonym: "histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness" EXACT [] synonym: "histiocytosis with joint contractures and sensorineural deafness" EXACT [] synonym: "HJCD" EXACT OMO:0003012 [] synonym: "PHID" EXACT OMO:0003012 [] synonym: "pigmented hypertrichosis with insulin-dependent diabetes mellitus" EXACT [] synonym: "Rosai–Dorfman disease" EXACT [] synonym: "SHML" EXACT OMO:0003012 [] synonym: "sinus histiocytosis and massive lymphadenopathy" EXACT [] xref: GARD:7588 xref: ICDO:9749/3 xref: MIM:602782 xref: NCI:C36075 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111279 name: psoriasis 7 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17236132] synonym: "PSORS7" EXACT OMO:0003012 [] xref: MIM:605606 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111280 name: psoriasis 4 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 1q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9886260] synonym: "PSORS4" EXACT OMO:0003012 [] xref: MIM:603935 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111281 name: psoriasis 15 def: "A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the AP1S3 gene on chromosome 2q36.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24791904] synonym: "PSORS15" EXACT OMO:0003012 [] xref: MIM:616106 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111282 name: psoriasis 5 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 3q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10573011] synonym: "PSORS5" EXACT OMO:0003012 [] xref: MIM:604316 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111283 name: psoriasis 3 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 4q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8841203] synonym: "PSORS3" EXACT OMO:0003012 [] xref: MIM:601454 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111284 name: psoriasis 9 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12485440] synonym: "PSORS9" EXACT OMO:0003012 [] xref: MIM:607857 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111285 name: psoriasis 11 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17236132] synonym: "PSORS11" EXACT OMO:0003012 [] xref: MIM:612599 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111286 name: psoriasis 1 def: "A psoriasis that has_material_basis_in variation in HLA-C on chromosome 6p21.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11841557] synonym: "PSORS1" EXACT OMO:0003012 [] xref: MIM:177900 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111287 name: psoriasis 13 def: "A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20953188] synonym: "PSORS13" EXACT OMO:0003012 [] xref: MIM:614070 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111288 name: psoriasis 8 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9259283] synonym: "PSORS8" EXACT OMO:0003012 [] xref: MIM:610707 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111289 name: psoriasis 10 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14632189] synonym: "PSORS10" EXACT OMO:0003012 [] xref: MIM:612410 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111290 name: psoriasis 6 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10986047] synonym: "PSORS6" EXACT OMO:0003012 [] xref: MIM:605364 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111291 name: psoriasis 12 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18364390] synonym: "PSORS12" EXACT OMO:0003012 [] xref: MIM:612950 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111292 name: idiopathic generalized epilepsy 10 def: "An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15115768] synonym: "EIG10" EXACT OMO:0003012 [] xref: MIM:613060 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111293 name: generalized epilepsy with febrile seizures plus 4 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15827091] synonym: "GEFS+4" EXACT OMO:0003012 [] synonym: "GEFSP4" EXACT OMO:0003012 [] synonym: "generalised epilepsy with febrile seizures plus 4" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 4" EXACT [] synonym: "generalized epilepsy with febrile seizures plus type 4" EXACT [] xref: MIM:609800 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111294 name: generalized epilepsy with febrile seizures plus 2 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10742094] synonym: "GEFS+2" EXACT OMO:0003012 [] synonym: "GEFSP2" EXACT OMO:0003012 [] synonym: "generalised epilepsy with febrile seizures plus 2" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 2" EXACT [] synonym: "generalized epilepsy with febrile seizures plus type 2" EXACT [] xref: MIM:604403 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111295 name: generalized epilepsy with febrile seizures plus 7 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19763161] synonym: "GEFS+7" EXACT OMO:0003012 [] synonym: "GEFSP7" EXACT OMO:0003012 [] synonym: "generalised epilepsy with febrile seizures plus 7" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 7" EXACT [] synonym: "generalized epilepsy with febrile seizures plus type 7" EXACT [] xref: MESH:C567827 xref: MIM:613863 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111296 name: generalized epilepsy with febrile seizures plus 10 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30351409] synonym: "GEFS+10" EXACT OMO:0003012 [] synonym: "GEFSP10" EXACT OMO:0003012 [] synonym: "generalised epilepsy with febrile seizures plus 10" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 10" EXACT [] synonym: "generalized epilepsy with febrile seizures plus type 10" EXACT [] xref: MIM:618482 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111297 name: familial febrile seizures def: "A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12429594] synonym: "familial febrile convulsions" EXACT [] synonym: "FEB" EXACT OMO:0003012 [] xref: MIM:PS121210 is_a: DOID:936 ! brain disease [Term] id: DOID:0111298 name: familial febrile seizures 8 def: "A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8730286] synonym: "familial febrile convulsions 8" EXACT [] synonym: "FEB8" EXACT OMO:0003012 [] xref: MIM:607681 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111299 name: generalized epilepsy with febrile seizures plus 8 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19841378] synonym: "GEFS+8" EXACT OMO:0003012 [] synonym: "GEFSP8" EXACT OMO:0003012 [] synonym: "generalised epilepsy with febrile seizures plus 8" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 8" EXACT [] synonym: "generalized epilepsy with febrile seizures plus type 8" EXACT [] xref: MIM:613828 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111300 name: generalized epilepsy with febrile seizures plus 6 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18625863] synonym: "GEFS+6" EXACT OMO:0003012 [] synonym: "GEFSP6" EXACT OMO:0003012 [] synonym: "generalised epilepsy with febrile seizures plus 6" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 6" EXACT [] synonym: "generalized epilepsy with febrile seizures plus type 6" EXACT [] xref: MIM:612279 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111301 name: generalized epilepsy with febrile seizures plus 9 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25362483] synonym: "GEFS+9" EXACT OMO:0003012 [] synonym: "GEFSP9" EXACT OMO:0003012 [] synonym: "generalised epilepsy with febrile seizures plus 9" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 9" EXACT [] synonym: "generalized epilepsy with febrile seizures plus type 9" EXACT [] xref: MIM:616172 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111302 name: generalized epilepsy with febrile seizures plus 1 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9697698] synonym: "GEFS+1" EXACT OMO:0003012 [] synonym: "GEFSP1" EXACT OMO:0003012 [] synonym: "generalised epilepsy with febrile seizures plus 1" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 1" EXACT [] synonym: "generalized epilepsy with febrile seizures plus type 1" EXACT [] xref: MIM:604233 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111303 name: familial febrile seizures 9 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17452582] synonym: "familial febrile convulsions 9" EXACT [] synonym: "FEB9" EXACT OMO:0003012 [] xref: MIM:611634 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111304 name: familial febrile seizures 10 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18830713] synonym: "familial febrile convulsions 10" EXACT [] synonym: "FEB10" EXACT OMO:0003012 [] xref: MIM:612637 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111305 name: familial febrile seizures 4 def: "A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12402266] synonym: "familial febrile convulsions 4" EXACT [] synonym: "FEB4" EXACT OMO:0003012 [] xref: MIM:604352 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111306 name: familial febrile seizures 5 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12429594] synonym: "familial febrile convulsions 5" EXACT [] synonym: "FEB5" EXACT OMO:0003012 [] xref: MIM:609255 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111307 name: familial febrile seizures 1 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8730286] synonym: "familial febrile convulsions 1" EXACT [] synonym: "FEB1" EXACT OMO:0003012 [] xref: MIM:121210 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111308 name: familial febrile seizures 11 def: "A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21922598] synonym: "familial febrile convulsions 11" EXACT [] synonym: "FEB11" EXACT OMO:0003012 [] xref: MIM:614418 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111309 name: familial febrile seizures 6 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15557493] synonym: "familial febrile convulsions 6" EXACT [] synonym: "FEB6" EXACT OMO:0003012 [] xref: MIM:609253 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111310 name: familial febrile seizures 2 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9384604] synonym: "familial febrile convulsions 2" EXACT [] synonym: "FEB2" EXACT OMO:0003012 [] xref: MIM:602477 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111311 name: familial febrile seizures 7 def: "A familial febrile seizures that has_material_basis_in heterozygous mutation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17054683] synonym: "familial febrile convulsions 7" EXACT [] synonym: "FEB7" EXACT OMO:0003012 [] xref: MIM:611515 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111312 name: idiopathic generalized epilepsy 11 def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19710712] synonym: "EIG11" EXACT OMO:0003012 [] xref: MIM:607628 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111313 name: idiopathic generalized epilepsy 12 def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19798636] synonym: "EIG12" EXACT OMO:0003012 [] xref: MIM:614847 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111314 name: idiopathic generalized epilepsy 13 def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11992121] synonym: "EIG13" EXACT OMO:0003012 [] xref: MIM:611136 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111315 name: idiopathic generalized epilepsy 14 def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24928908] synonym: "EIG14" EXACT OMO:0003012 [] xref: MIM:616685 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111316 name: idiopathic generalized epilepsy 15 def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27352968] synonym: "EIG15" EXACT OMO:0003012 [] xref: MIM:618357 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111317 name: idiopathic generalized epilepsy 2 def: "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10888596] synonym: "EIG2" EXACT OMO:0003012 [] xref: MIM:606972 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111318 name: idiopathic generalized epilepsy 3 def: "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15101829] synonym: "EIG3" EXACT OMO:0003012 [] xref: MIM:608762 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111319 name: idiopathic generalized epilepsy 4 def: "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16130088] synonym: "EIG4" EXACT OMO:0003012 [] xref: MIM:609750 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111320 name: idiopathic generalized epilepsy 5 def: "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18241056] synonym: "EIG5" EXACT OMO:0003012 [] xref: MIM:611934 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111321 name: idiopathic generalized epilepsy 7 def: "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9259280] synonym: "EIG7" EXACT OMO:0003012 [] xref: MIM:604827 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111322 name: idiopathic generalized epilepsy 8 def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18756473] synonym: "EIG8" EXACT OMO:0003012 [] xref: MIM:612899 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111323 name: idiopathic generalized epilepsy 9 def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10762541] synonym: "EIG9" EXACT OMO:0003012 [] xref: MIM:607682 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111324 name: juvenile absence epilepsy 1 def: "A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14663045] synonym: "EJA1" EXACT OMO:0003012 [] synonym: "JAE1" EXACT OMO:0003012 [] xref: MIM:607631 is_a: DOID:0060172 ! juvenile absence epilepsy [Term] id: DOID:0111325 name: juvenile myoclonic epilepsy 10 def: "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29539279] synonym: "EJM10" EXACT OMO:0003012 [] xref: MIM:617924 is_a: DOID:4890 ! juvenile myoclonic epilepsy [Term] id: DOID:0111326 name: juvenile myoclonic epilepsy 3 def: "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12830434] synonym: "EJM3" EXACT OMO:0003012 [] xref: MIM:608816 is_a: DOID:4890 ! juvenile myoclonic epilepsy [Term] id: DOID:0111327 name: juvenile myoclonic epilepsy 4 def: "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17431681] synonym: "EJM4" EXACT OMO:0003012 [] xref: MIM:611364 is_a: DOID:4890 ! juvenile myoclonic epilepsy [Term] id: DOID:0111328 name: juvenile myoclonic epilepsy 9 def: "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20467754] synonym: "EJM9" EXACT OMO:0003012 [] xref: MIM:614280 is_a: DOID:4890 ! juvenile myoclonic epilepsy [Term] id: DOID:0111329 name: pyridoxamine 5'-phosphate oxidase deficiency def: "A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24658933] subset: DO_rare_slim synonym: "PNPO deficiency" EXACT [] synonym: "PNPO-related neonatal epileptic encephalopathy" EXACT [] synonym: "pyridoxal 5'-phosphate-dependent epilepsy" EXACT [] synonym: "pyridoxal phosphate-dependent seizures" EXACT [] synonym: "pyridoxal phosphate-responsive seizures" EXACT [] synonym: "pyridoxamine 5'-oxidase deficiency" EXACT [] synonym: "pyridoxamine 5-prime-phosphate oxidase deficiency" EXACT [] xref: GARD:10730 xref: MESH:C566449 xref: MIM:610090 xref: ORDO:79096 xref: SNOMEDCT_US_2023_03_01:724576005 xref: UMLS_CUI:C1864723 is_a: DOID:0050718 ! vitamin metabolic disorder [Term] id: DOID:0111330 name: combined saposin deficiency def: "A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11309366, url:https\://www.ncbi.nlm.nih.gov/pubmed/1371116] subset: DO_rare_slim synonym: "combined SAP deficiency" EXACT [] synonym: "encephalopathy due to prosaposin deficiency" EXACT [] synonym: "PSAPD" EXACT OMO:0003012 [] xref: MESH:C567125 xref: MIM:611721 xref: ORDO:139406 is_a: DOID:1927 ! sphingolipidosis [Term] id: DOID:0111331 name: intellectual disability-severe speech delay-mild dysmorphism syndrome def: "A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24214399] subset: DO_rare_slim synonym: "FOXP1 Haploinsufficiency" EXACT [] synonym: "FOXP1 syndrome" EXACT [] synonym: "FOXP1-Related Neurodevelopmental Disorder" EXACT [] synonym: "Mental retardation with language impairment and with or without autistic features" EXACT [] xref: GARD:12501 xref: MIM:613670 xref: ORDO:391372 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050888 ! syndromic intellectual disability [Term] id: DOID:0111332 name: Pitt-Hopkins-like syndrome 2 def: "A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19896112, url:https\://www.ncbi.nlm.nih.gov/pubmed/22617343] synonym: "PTHSL2" EXACT OMO:0003012 [] xref: MIM:614325 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050888 ! syndromic intellectual disability [Term] id: DOID:0111333 name: early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome def: "A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22101682] subset: DO_rare_slim synonym: "congenital myopathy 10A" EXACT [] synonym: "EMARDD" EXACT OMO:0003012 [] synonym: "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset" EXACT [] xref: GARD:12199 xref: MIM:614399 xref: ORDO:439212 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0111334 name: congenital leptin deficiency def: "A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10523015] subset: DO_rare_slim synonym: "LEPD" EXACT OMO:0003012 [] synonym: "leptin deficiency or dysfunction" EXACT [] synonym: "obesity due to congenital leptin deficiency" EXACT [] xref: MIM:614962 xref: ORDO:66628 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0111335 name: myopathy with extrapyramidal signs def: "A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24336167] subset: DO_rare_slim synonym: "MPXPS" EXACT OMO:0003012 [] synonym: "proximal myopathy with extrapyramidal signs" EXACT [] xref: GARD:12978 xref: MIM:615673 xref: ORDO:401768 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:423 ! myopathy [Term] id: DOID:0111336 name: craniofacial-deafness-hand syndrome def: "A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6859126, url:https\://www.ncbi.nlm.nih.gov/pubmed/8664898] subset: DO_rare_slim synonym: "CDHS" EXACT OMO:0003012 [] synonym: "Sommer-Young-Wee-Frye syndrome" EXACT [] xref: GARD:1571 xref: MESH:C536453 xref: MIM:122880 xref: ORDO:1529 xref: SNOMEDCT_US_2023_03_01:702362004 xref: UMLS_CUI:C1852510 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111337 name: Jackson-Weiss syndrome def: "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1271196, url:https\://www.ncbi.nlm.nih.gov/pubmed/7874170] subset: DO_rare_slim subset: NCIthesaurus synonym: "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome" EXACT [] synonym: "JWS" EXACT OMO:0003012 [] xref: GARD:6796 xref: MESH:C537559 xref: MIM:123150 xref: NCI:C123814 xref: ORDO:1540 xref: SNOMEDCT_US_2023_03_01:709105005 xref: UMLS_CUI:C0795998 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111338 name: isolated elevated serum creatine phosphokinase levels def: "An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3." [url:https\://ghr.nlm.nih.gov/condition/isolated-hyperckemia, url:https\://www.ncbi.nlm.nih.gov/pubmed/10746614] synonym: "elevated serum CPK" EXACT [] synonym: "idiopathic hyperCKemia" EXACT [] synonym: "isolated hyperCKemia" EXACT [] xref: MIM:123320 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111339 name: Vohwinkel syndrome def: "A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10369869] subset: DO_rare_slim synonym: "congenital deafness with keratopachydermia and constrictions fo fingers and toes" EXACT [] synonym: "keratoderma hereditarium mutilans" EXACT [] synonym: "KHM" EXACT OMO:0003012 [] synonym: "mutilating keratoderma of Vohwinkel" EXACT [] synonym: "Mutilating keratoderma plus deafness" EXACT [] synonym: "PPK mutilans and deafness" EXACT [] synonym: "VOWNKL" EXACT OMO:0003012 [] xref: MESH:C536457 xref: MIM:124500 xref: ORDO:3092 xref: ORDO:494 xref: SNOMEDCT_US_2023_03_01:24559001 xref: UMLS_CUI:C0265964 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111340 name: dominant optic atrophy plus syndrome def: "A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12566046, url:https\://www.ncbi.nlm.nih.gov/pubmed/20157015] subset: DO_rare_slim synonym: "DOA+" EXACT OMO:0003012 [] synonym: "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" EXACT [] xref: GARD:5243 xref: MIM:125250 xref: SNOMEDCT_US_2023_03_01:715374003 xref: UMLS_CUI:C3276549 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111341 name: primary failure of tooth eruption def: "A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19061984, url:https\://www.ncbi.nlm.nih.gov/pubmed/29544499] subset: DO_rare_slim synonym: "dental noneruption" EXACT [] synonym: "familial posterior openbite malocclusion" EXACT [] synonym: "nonsyndromic primary failure of eruption" EXACT [] synonym: "PFE" EXACT OMO:0003012 [] synonym: "primary retention of teeth" EXACT [] synonym: "unerupted second primary molar" EXACT [] xref: MESH:C565114 xref: MIM:125350 xref: ORDO:412206 xref: SNOMEDCT_US_2023_03_01:1231153007 xref: UMLS_CUI:C1852222 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1091 ! tooth disease [Term] id: DOID:0111342 name: dermatopathia pigmentosa reticularis def: "An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1303619, url:https\://www.ncbi.nlm.nih.gov/pubmed/16960809] subset: DO_rare_slim synonym: "DPR" EXACT OMO:0003012 [] xref: GARD:8550 xref: MESH:C535374 xref: MIM:125595 xref: ORDO:86920 xref: SNOMEDCT_US_2023_03_01:239088003 xref: UMLS_CUI:C0406778 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111343 name: lateral meningocele syndrome def: "A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25394726] subset: DO_rare_slim synonym: "Lehman syndrome" EXACT [] xref: GARD:9873 xref: MESH:C537878 xref: MIM:130720 xref: ORDO:2789 xref: UMLS_CUI:C1851710 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111344 name: myeloproliferative disorder with eosinophilia def: "A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12181402, url:https\://www.ncbi.nlm.nih.gov/pubmed/8168137] synonym: "chronic myeloproliferative disorder with eosinophilia" EXACT [] xref: MIM:131440 is_a: DOID:2226 ! myeloproliferative neoplasm [Term] id: DOID:0111345 name: transient bullous dermolysis of the newborn def: "An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16225626, url:https\://www.ncbi.nlm.nih.gov/pubmed/9406826] subset: DO_rare_slim synonym: "DEB, bullous dermolysis of the newborn" EXACT [] synonym: "DEB-BDN" EXACT OMO:0003012 [] xref: GARD:10010 xref: MESH:C536979 xref: MIM:131705 xref: ORDO:79411 xref: SNOMEDCT_US_2023_03_01:723553000 xref: UMLS_CUI:C1851573 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4959 ! epidermolysis bullosa dystrophica [Term] id: DOID:0111346 name: epidermolysis bullosa simplex with mottled pigmentation def: "An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/421361, url:https\://www.ncbi.nlm.nih.gov/pubmed/8799157] subset: DO_rare_slim synonym: "EBSMP" EXACT OMO:0003012 [] synonym: "Epidermolysis bullosa simplex-MP" EXACT [] synonym: "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering" EXACT [] xref: GARD:9737 xref: MESH:C535959 xref: MIM:131960 xref: ORDO:79397 xref: SNOMEDCT_US_2023_03_01:254180002 xref: UMLS_CUI:C0432316 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:0111347 name: epidermolysis bullosa with congenital localized absence of skin and deformity of nails def: "An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/5910871, url:https\://www.ncbi.nlm.nih.gov/pubmed/8618021] synonym: "EBD, Bart type" EXACT [] synonym: "epidermolysis bullosa dystrophica, Bart type" EXACT [] xref: MESH:C562638 xref: MIM:132000 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:0080224 ! autosomal dominant dystrophic epidermolysis bullosa [Term] id: DOID:0111348 name: multiple epiphyseal dysplasia with myopia and deafness def: "A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/699354, url:https\://www.ncbi.nlm.nih.gov/pubmed/9800905] subset: DO_rare_slim synonym: "EDMMD" EXACT OMO:0003012 [] synonym: "multiple epiphyseal dysplasia, Beighton type" EXACT [] synonym: "multiple epiphyseal dysplasia-myopia-deafness syndrome" EXACT [] xref: MESH:C565046 xref: MIM:132450 xref: ORDO:166011 xref: UMLS_CUI:C1851536 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111349 name: hereditary desmoid disease def: "A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10782927] synonym: "familial infiltrative fibromatosis" EXACT [] synonym: "FIF" EXACT OMO:0003012 [] xref: MESH:C535944 xref: MIM:135290 xref: UMLS_CUI:C1851124 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111350 name: Laurin-Sandrow syndrome def: "A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24456159, url:https\://www.ncbi.nlm.nih.gov/pubmed/4314818] subset: DO_rare_slim synonym: "miccor hands and feet with nasal defects" EXACT [] synonym: "MIPduplication of fibuland ulna with absence of tibia and radius" EXACT [] synonym: "mirror hands and feets-nasal defects syndrome" EXACT [] synonym: "mirror-image polydactyly" EXACT [] synonym: "Sandrow syndrome" EXACT [] synonym: "tetramelic mirror-image polydactyly" EXACT [] synonym: "TMIP" EXACT OMO:0003012 [] xref: GARD:155 xref: MESH:C535689 xref: MIM:135750 xref: ORDO:2378 xref: SNOMEDCT_US_2023_03_01:715440003 xref: UMLS_CUI:C1851100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1934 ! dysostosis [Term] id: DOID:0111351 name: D-2-hydroxyglutaric aciduria 1 def: "A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15609246] synonym: "D2HGA1" EXACT OMO:0003012 [] xref: MIM:600721 is_a: DOID:0050575 ! D-2-hydroxyglutaric aciduria is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111352 name: D-2-hydroxyglutaric aciduria 2 def: "A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20847235] synonym: "D2HGA2" EXACT OMO:0003012 [] xref: MIM:613657 is_a: DOID:0050575 ! D-2-hydroxyglutaric aciduria is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111353 name: arthrogryposis, renal dysfunction, and cholestasis 1 def: "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15052268] synonym: "ARCS1" EXACT OMO:0003012 [] xref: MIM:208085 is_a: DOID:0050763 ! ARC syndrome [Term] id: DOID:0111354 name: arthrogryposis, renal dysfunction, and cholestasis 2 def: "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20190753] synonym: "ARCS2" EXACT OMO:0003012 [] xref: MIM:613404 is_a: DOID:0050763 ! ARC syndrome [Term] id: DOID:0111355 name: hydrolethalus syndrome 1 def: "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15843405] synonym: "HLS1" EXACT OMO:0003012 [] xref: MESH:C565504 xref: MIM:236680 is_a: DOID:0050779 ! hydrolethalus syndrome [Term] id: DOID:0111356 name: hydrolethalus syndrome 2 def: "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21552264] synonym: "HLS2" EXACT OMO:0003012 [] xref: MIM:614120 is_a: DOID:0050779 ! hydrolethalus syndrome [Term] id: DOID:0111357 name: adermatoglyphia def: "A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21820097] subset: DO_rare_slim synonym: "Absence of fingerprints" EXACT [] synonym: "ADERM" EXACT OMO:0003012 [] synonym: "ADG" EXACT OMO:0003012 [] synonym: "Congenital absence of fingerprints" EXACT [] synonym: "Immigration delay disease" EXACT [] synonym: "Isolated congenital adermatoglyphia" EXACT [] xref: GARD:12550 xref: MIM:136000 xref: ORDO:289465 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:37 ! skin disease [Term] id: DOID:0111358 name: Floating-Harbor syndrome def: "A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2." [url:https\://ghr.nlm.nih.gov/condition/floating-harbor-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/22265015, url:https\://www.ncbi.nlm.nih.gov/pubmed/7588969] subset: DO_rare_slim subset: NCIthesaurus synonym: "FLHS" EXACT OMO:0003012 [] xref: GARD:6455 xref: MESH:C537062 xref: MIM:136140 xref: NCI:C175241 xref: ORDO:2044 xref: SNOMEDCT_US_2023_03_01:205810007 xref: UMLS_CUI:C0729582 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111359 name: large congenital melanocytic nevus def: "A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18671780, url:https\://www.ncbi.nlm.nih.gov/pubmed/23392294] subset: DO_rare_slim subset: NCIthesaurus synonym: "Congenital pigmented nevus" EXACT [] synonym: "Giant congenital melanocytic nevus" EXACT [] synonym: "Giant pigmented hairy nevus" EXACT [] synonym: "GMN" EXACT OMO:0003012 [] synonym: "LCMN" EXACT OMO:0003012 [] xref: GARD:2469 xref: MEDDRA:10072036 xref: MESH:C536819 xref: MIM:137550 xref: NCI:C3944 xref: NCI:C4234 xref: ORDO:626 xref: SNOMEDCT_US_2023_03_01:254815002 xref: SNOMEDCT_US_2023_03_01:84953004 xref: UMLS_CUI:C1318558 xref: UMLS_CUI:C1842036 is_a: DOID:0080015 ! physical disorder is_a: DOID:37 ! skin disease [Term] id: DOID:0111360 name: hypotrichosis-lymphedema-telangiectasia-renal defect syndrome def: "A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24697860] synonym: "glomerulonephritis with sparse hair and telangiectases" EXACT [] synonym: "HLT-renal defect syndrome" EXACT [] synonym: "HLTRS" EXACT OMO:0003012 [] synonym: "hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome" EXACT [] synonym: "telangiectatic membranoproliferative glomerulonephritis" EXACT [] xref: MIM:137940 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111361 name: hypotrichosis-lymphedema-telangiectasia syndrome def: "A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20q13.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12740761] synonym: "HLTS" EXACT OMO:0003012 [] xref: MESH:C564327 xref: MIM:607823 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111362 name: hawkinsinuria def: "An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11073718] subset: DO_rare_slim synonym: "4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency" EXACT [] synonym: "4-HPPD deficiency" EXACT [] synonym: "4-hydroxyphenylpyruvic acid dioxygenase deficiency" EXACT [] xref: GARD:5668 xref: MESH:C535845 xref: MIM:140350 xref: ORDO:2118 xref: SNOMEDCT_US_2023_03_01:403001 xref: UMLS_CUI:C2931042 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111363 name: Heinz body anemia def: "A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14184033, url:https\://www.ncbi.nlm.nih.gov/pubmed/3997544, url:https\://www.ncbi.nlm.nih.gov/pubmed/8704193] subset: DO_rare_slim xref: GARD:10718 xref: MIM:140700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia [Term] id: DOID:0111364 name: Alzheimer's disease 9 def: "An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21460840] synonym: "AD9" EXACT OMO:0003012 [] synonym: "Alzheimer's disease 9, late onset" EXACT [] xref: MIM:608907 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0111365 name: benign familial hematuria def: "A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8787673] synonym: "BFH" EXACT OMO:0003012 [] synonym: "thin basement membrane nephropathy" EXACT [] synonym: "thin membrane nephropathy" EXACT [] synonym: "TMN" EXACT OMO:0003012 [] xref: MIM:141200 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:18 ! urinary system disease [Term] id: DOID:0111366 name: familial hepatic adenoma def: "A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/207987] synonym: "familial liver cell adenomas" EXACT [] xref: MIM:142330 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050868 ! hepatocellular adenoma [Term] id: DOID:0111367 name: Beukes hip dysplasia def: "An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26428751] subset: DO_rare_slim synonym: "Beukes familial hip dysplasia" EXACT [] synonym: "Beukes type hip dysplasia" EXACT [] synonym: "BFHD" EXACT OMO:0003012 [] synonym: "Cilliers-Beighton syndrome" EXACT [] synonym: "Premature degenerative osteoarthropathy of the hip" EXACT [] xref: GARD:2690 xref: MESH:C564185 xref: MIM:142669 xref: ORDO:2114 xref: SNOMEDCT_US_2023_03_01:721148005 xref: UMLS_CUI:C1840572 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:8398 ! osteoarthritis [Term] id: DOID:0111368 name: cholesterol-ester transfer protein deficiency def: "A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/168823] subset: DO_rare_slim synonym: "CEPT deficiency" EXACT [] synonym: "familial hyperalphalipoproteinemia" EXACT [] xref: ORDO:79506 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0111369 name: hyperalphalipoproteinemia 1 def: "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2215607, url:https\://www.ncbi.nlm.nih.gov/pubmed/6738363] subset: NCIthesaurus synonym: "HALP1" EXACT OMO:0003012 [] xref: MESH:C564591 xref: MIM:143470 xref: NCI:C128806 xref: SNOMEDCT_US_2023_03_01:238080004 xref: UMLS_CUI:C0342883 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111368 ! cholesterol-ester transfer protein deficiency [Term] id: DOID:0111370 name: apolipoprotein C-III deficiency def: "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2022742] synonym: "HALP2" EXACT OMO:0003012 [] synonym: "hyperalphalipoproteinemia 2" EXACT [] xref: MESH:C566270 xref: MIM:614028 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111368 ! cholesterol-ester transfer protein deficiency [Term] id: DOID:0111371 name: isolated hyperchlorhidrosis def: "A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2." [url:https\://ghr.nlm.nih.gov/condition/isolated-hyperchlorhidrosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/21184099] subset: DO_rare_slim synonym: "carbonic anhydrase XII deficiency" EXACT [] synonym: "HYCHL" EXACT OMO:0003012 [] xref: MIM:143860 xref: ORDO:542657 xref: SNOMEDCT_US_2023_03_01:709413001 xref: UMLS_CUI:C1840437 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:37 ! skin disease [Term] id: DOID:0111372 name: obsolete autosomal dominant endosteal hyperostosis def: "An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12579474, url:https\://www.ncbi.nlm.nih.gov/pubmed/4942110] is_obsolete: true [Term] id: DOID:0111373 name: familial progressive hyperpigmentation with or without hypopigmentation def: "A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19375057, url:https\://www.ncbi.nlm.nih.gov/pubmed/21368769] synonym: "FPHH" EXACT OMO:0003012 [] synonym: "melanosis universalis hereditaria" EXACT [] synonym: "MUH" EXACT OMO:0003012 [] xref: MIM:145250 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:37 ! skin disease [Term] id: DOID:0111374 name: selective pituitary thyroid hormone resistance def: "A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6798060, url:https\://www.ncbi.nlm.nih.gov/pubmed/8040303] subset: DO_rare_slim synonym: "familial hyperthyroidism due to inappropriate thyrotropin secretion" EXACT [] synonym: "pituitary resistance to thyroid hormone" EXACT [] synonym: "PRTH" EXACT OMO:0003012 [] synonym: "selective pituitary resistance to thyroid hormone" EXACT [] xref: MESH:C564154 xref: MIM:145650 xref: ORDO:165994 xref: UMLS_CUI:C1840364 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:7998 ! hyperthyroidism [Term] id: DOID:0111375 name: fetal akinesia deformation sequence syndrome def: "A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19261599, url:https\://www.ncbi.nlm.nih.gov/pubmed/22482962, url:https\://www.ncbi.nlm.nih.gov/pubmed/30498368] subset: DO_rare_slim subset: NCIthesaurus synonym: "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" EXACT [] synonym: "FADS" EXACT OMO:0003012 [] synonym: "fetal akinesia sequence" EXACT [] synonym: "foetal akinesia deformation sequence syndrome" EXACT [] synonym: "foetal akinesia sequence" EXACT [] synonym: "Pena-Shokeir syndrome type 1" EXACT [] xref: GARD:9634 xref: MESH:C536647 xref: MIM:PS208150 xref: NCI:C129071 xref: ORDO:994 xref: SNOMEDCT_US_2023_03_01:401138005 xref: UMLS_CUI:C1276035 is_a: DOID:0050177 ! monogenic disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111376 name: fetal akinesia deformation sequence syndrome 3 def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19261599] synonym: "FADS3" EXACT OMO:0003012 [] xref: MIM:618389 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome [Term] id: DOID:0111377 name: fetal akinesia deformation sequence syndrome 1 def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25537362] synonym: "FADS1" EXACT OMO:0003012 [] xref: MIM:208150 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome [Term] id: DOID:0111378 name: fetal akinesia deformation sequence syndrome 2 def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18179903] synonym: "FADS2" EXACT OMO:0003012 [] xref: MIM:618388 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome [Term] id: DOID:0111379 name: fetal akinesia deformation sequence syndrome 4 def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30543681] synonym: "FADS4" EXACT OMO:0003012 [] xref: MIM:618393 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome [Term] id: DOID:0111380 name: solitary median maxillary central incisor def: "A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11471164] subset: DO_rare_slim synonym: "fused incisors" EXACT [] synonym: "single central maxillary incisor" EXACT [] synonym: "single median maxillary central incisor" EXACT [] synonym: "single upper central incisor" EXACT [] synonym: "SMMCI" EXACT OMO:0003012 [] xref: GARD:4877 xref: MIM:147250 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1091 ! tooth disease [Term] id: DOID:0111381 name: IVIC syndrome def: "A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17256792, url:https\://www.ncbi.nlm.nih.gov/pubmed/7395922] subset: DO_rare_slim synonym: "Instituto Venezolano de Investigaciones Cientificas syndrome" EXACT [] synonym: "oculo-oto-radial syndrome" EXACT [] synonym: "Oculootoradial syndrome" EXACT [] synonym: "OORS" EXACT OMO:0003012 [] synonym: "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" EXACT [] xref: GARD:269 xref: MESH:C535544 xref: MIM:147750 xref: ORDO:2307 xref: SNOMEDCT_US_2023_03_01:722019000 xref: UMLS_CUI:C1327918 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111382 name: ischiocoxopodopatellar syndrome def: "A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11303519, url:https\://www.ncbi.nlm.nih.gov/pubmed/15106123] subset: DO_rare_slim synonym: "congenital coxa vara, patella aplasia and tarsal synostosis" EXACT [] synonym: "coxo-podo-patellar syndrome" EXACT [] synonym: "coxopodipatellar syndrome" EXACT [] synonym: "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension" EXACT [] synonym: "ischiopatellar dysplasia" EXACT [] synonym: "patella aplasia, coxa vara, and tarsal synostosis" EXACT [] synonym: "Scott-Taor syndrome" EXACT [] synonym: "small patella syndrome" EXACT [] synonym: "SPS" EXACT OMO:0003012 [] xref: GARD:3030 xref: MESH:C535540 xref: MESH:C536307 xref: MIM:147891 xref: ORDO:1509 xref: SNOMEDCT_US_2023_03_01:720752007 xref: UMLS_CUI:C1840061 xref: UMLS_CUI:C1868581 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1934 ! dysostosis [Term] id: DOID:0111383 name: autosomal dominant keratitis def: "A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7668281] subset: DO_rare_slim synonym: "hereditary keratitis" EXACT [] xref: GARD:3089 xref: MESH:C537022 xref: MIM:148190 xref: ORDO:2334 xref: SNOMEDCT_US_2023_03_01:715339004 xref: UMLS_CUI:C1835698 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4677 ! keratitis [Term] id: DOID:0111384 name: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23455423] synonym: "IBMPFD2" EXACT OMO:0003012 [] synonym: "MSP2" EXACT OMO:0003012 [] synonym: "multisystem proteinopathy 2" EXACT [] xref: MIM:615422 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia [Term] id: DOID:0111385 name: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15034582] synonym: "IBMPFD1" EXACT OMO:0003012 [] synonym: "MSP1" EXACT OMO:0003012 [] synonym: "multisystem proteinopathy 1" EXACT [] xref: MIM:167320 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia [Term] id: DOID:0111386 name: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23455423] synonym: "IBMPFD3" EXACT OMO:0003012 [] synonym: "MSP3" EXACT OMO:0003012 [] synonym: "multisystem proteinopathy 3" EXACT [] xref: MIM:615424 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia [Term] id: DOID:0111387 name: familial isolated hypoparathyroidism def: "A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in the GCM2 gene on chromosome 11p15.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11602629, url:https\://www.ncbi.nlm.nih.gov/pubmed/2212001] synonym: "FIH" EXACT OMO:0003012 [] xref: MIM:146200 is_a: DOID:11199 ! hypoparathyroidism [Term] id: DOID:0111388 name: X-linked hypoparathyroidism def: "A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14431322, url:https\://www.ncbi.nlm.nih.gov/pubmed/9832036] synonym: "agenesis of parathyroid glands" EXACT [] synonym: "HYPX" EXACT OMO:0003012 [] xref: MIM:307700 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:11199 ! hypoparathyroidism [Term] id: DOID:0111389 name: mucopolysaccharidosis Ih/s def: "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10466419, url:https\://www.ncbi.nlm.nih.gov/pubmed/2128891, url:https\://www.ncbi.nlm.nih.gov/pubmed/7550242] subset: DO_rare_slim subset: NCIthesaurus synonym: "MPS1H/S" EXACT OMO:0003012 [] synonym: "MPSIH/S" EXACT OMO:0003012 [] synonym: "Mucopolysaccharidosis type 1H/S" EXACT [] xref: GARD:12560 xref: ICD10CM:E76.02 xref: MESH:D008059 xref: MIM:607015 xref: NCI:C122782 xref: ORDO:93476 xref: SNOMEDCT_US_2023_03_01:26745009 xref: UMLS_CUI:C0086431 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12802 ! mucopolysaccharidosis I [Term] id: DOID:0111390 name: mucopolysaccharidosis Ih def: "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3124802, url:https\://www.ncbi.nlm.nih.gov/pubmed/7550242] subset: DO_rare_slim subset: NCIthesaurus synonym: "dysostosis multiplex" EXACT [] synonym: "Dysostosis multiplex syndrome" EXACT [] synonym: "gargoylism" EXACT [] synonym: "Hurler disease MPS type 1H" EXACT [] synonym: "Hurler-Pfaundler syndrome" EXACT [] synonym: "L-iduronidase deficiency, Hurler type" EXACT [] synonym: "MPS1-H" EXACT OMO:0003012 [] synonym: "Mucopolysaccharidosis type I severe form" EXACT [] xref: GARD:12559 xref: ICD10CM:E76.01 xref: MESH:D008059 xref: MIM:607014 xref: NCI:C61261 xref: ORDO:93473 xref: SNOMEDCT_US_2023_03_01:65327002 xref: UMLS_CUI:C0086795 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12802 ! mucopolysaccharidosis I [Term] id: DOID:0111391 name: mucopolysaccharidosis IVA def: "A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18412124, url:https\://www.ncbi.nlm.nih.gov/pubmed/7607677] subset: DO_rare_slim subset: NCIthesaurus synonym: "GALNS deficiency" EXACT [] synonym: "Morquio A disease" EXACT [] synonym: "Morquio syndrome A" EXACT [] synonym: "MPS IVA" EXACT OMO:0003012 [] synonym: "MPS4A" EXACT OMO:0003012 [] xref: GARD:3785 xref: ICD10CM:E76.210 xref: MESH:D009085 xref: MIM:253000 xref: NCI:C84901 xref: ORDO:309297 xref: SNOMEDCT_US_2023_03_01:7259005 xref: UMLS_CUI:C0086651 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12804 ! mucopolysaccharidosis IV [Term] id: DOID:0111392 name: mucopolysaccharidosis type IVB def: "A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1928092, url:https\://www.ncbi.nlm.nih.gov/pubmed/817853] subset: DO_rare_slim subset: NCIthesaurus synonym: "beta-D-galactosidase deficiency" EXACT [] synonym: "Morquio disease type B" EXACT [] synonym: "Morquio syndrome B" EXACT [] synonym: "MPS IVB" EXACT OMO:0003012 [] synonym: "MPS4B" EXACT OMO:0003012 [] synonym: "mucopolysaccharidosis type IVB (Morquio)" EXACT [] xref: ICD10CM:E76.211 xref: MESH:D009085 xref: MIM:253010 xref: NCI:C84902 xref: ORDO:309310 xref: SNOMEDCT_US_2023_03_01:254075008 xref: UMLS_CUI:C0086652 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12804 ! mucopolysaccharidosis IV [Term] id: DOID:0111393 name: mucopolysaccharidosis type IIIC def: "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16960811] subset: DO_rare_slim subset: NCIthesaurus synonym: "Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency" EXACT [] synonym: "Heparan-alpha-glucosaminide N-acetyltransferase deficiency" EXACT [] synonym: "HGSNAT deficiency" EXACT [] synonym: "MPS3C" EXACT OMO:0003012 [] synonym: "MPSIIIC" EXACT OMO:0003012 [] synonym: "Mucopolysaccharidosis type 3C" EXACT [] synonym: "mucopolysaccharidosis type IIIC (Sanfilippo C)" EXACT [] synonym: "Sanfilippo syndrome type C" EXACT [] xref: GARD:7073 xref: ICD10CM:E76.22 xref: MESH:D009084 xref: MIM:252930 xref: NCI:C84899 xref: ORDO:79271 xref: SNOMEDCT_US_2023_03_01:75238000 xref: UMLS_CUI:C0086649 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12801 ! mucopolysaccharidosis III [Term] id: DOID:0111394 name: mucopolysaccharidosis type IIIB def: "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15933803, url:https\://www.ncbi.nlm.nih.gov/pubmed/8650226] subset: DO_rare_slim subset: NCIthesaurus synonym: "MPS3B" EXACT OMO:0003012 [] synonym: "MPSIIIB" EXACT OMO:0003012 [] synonym: "Mucopoly-saccharidosis type 3B" EXACT [] synonym: "Mucopolysaccharidosis type 3B" EXACT [] synonym: "mucopolysaccharidosis type IIIB (Sanfilippo B)" EXACT [] synonym: "N-acetyl-alpha-glucosaminidase deficiency" EXACT [] synonym: "NAGLU deficiency" EXACT [] synonym: "Sanfilippo syndrome type B" EXACT [] xref: GARD:7072 xref: ICD10CM:E76.22 xref: MESH:D009084 xref: MIM:252920 xref: NCI:C84898 xref: ORDO:79270 xref: SNOMEDCT_US_2023_03_01:254071004 xref: UMLS_CUI:C0086648 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12801 ! mucopolysaccharidosis III [Term] id: DOID:0111395 name: mucopolysaccharidosis type IIIA def: "A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6796310, url:https\://www.ncbi.nlm.nih.gov/pubmed/7493035] subset: DO_rare_slim subset: NCIthesaurus synonym: "heparan sulfamidase deficiency" EXACT [] synonym: "MPS3A" EXACT OMO:0003012 [] synonym: "MPSIIIA" EXACT OMO:0003012 [] synonym: "mucopolysaccharidosis III-A" EXACT [] synonym: "mucopolysaccharidosis type 3A" EXACT [] synonym: "mucopolysaccharidosis type IIIA (Sanfilippo A)" EXACT [] synonym: "Sanfilippo syndrome type A" EXACT [] xref: ICD10CM:E76.22 xref: MESH:D009084 xref: MIM:252900 xref: NCI:C84897 xref: ORDO:79269 xref: SNOMEDCT_US_2023_03_01:254070003 xref: UMLS_CUI:C0086647 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12801 ! mucopolysaccharidosis III [Term] id: DOID:0111396 name: congenital dyserythropoietic anemia type I def: "A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16098079] subset: DO_rare_slim synonym: "CDA I" EXACT OMO:0003012 [] synonym: "CDA type 1" EXACT [] synonym: "CDA type I" EXACT [] synonym: "CDA1" EXACT OMO:0003012 [] synonym: "Congenital dyserythropoietic anaemia type 1" EXACT [] synonym: "congenital dyserythropoietic anaemia type I" EXACT [] synonym: "Congenital dyserythropoietic anemia type 1" EXACT [] xref: GARD:2000 xref: ORDO:98869 is_a: DOID:1338 ! congenital dyserythropoietic anemia [Term] id: DOID:0111397 name: congenital dyserythropoietic anemia type Ib def: "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in C15orf41 on chromosome 15q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23716552] synonym: "CDA, type Ib" EXACT [] synonym: "CDAN1B" EXACT OMO:0003012 [] xref: MESH:D000742 xref: MIM:615631 xref: SNOMEDCT_US_2023_03_01:59548005 xref: UMLS_CUI:C0271933 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111396 ! congenital dyserythropoietic anemia type I [Term] id: DOID:0111398 name: congenital dyserythropoietic anemia type Ia def: "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12434312] synonym: "CDA Ia" EXACT OMO:0003012 [] synonym: "CDAN1A" EXACT OMO:0003012 [] xref: MIM:224120 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111396 ! congenital dyserythropoietic anemia type I [Term] id: DOID:0111399 name: congenital dyserythropoietic anemia type III def: "A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7711721] subset: DO_rare_slim synonym: "anaemia with multinucleated erythroblasts" EXACT [] synonym: "anemia with multinucleated erythroblasts" EXACT [] synonym: "CDA III" EXACT OMO:0003012 [] synonym: "CDA type 3" EXACT [] synonym: "CDA type III" EXACT [] synonym: "CDAN3" EXACT OMO:0003012 [] synonym: "Congenital dyserythropoietic anaemia type 3" EXACT [] synonym: "congenital dyserythropoietic anaemia type III" EXACT [] synonym: "Congenital dyserythropoietic anemia type 3" EXACT [] synonym: "hereditary benign erythroreticulosis" EXACT [] xref: GARD:2002 xref: MESH:D000742 xref: MIM:105600 xref: ORDO:98870 xref: SNOMEDCT_US_2023_03_01:26409005 xref: UMLS_CUI:C0271934 is_a: DOID:1338 ! congenital dyserythropoietic anemia [Term] id: DOID:0111400 name: congenital dyserythropoietic anemia type IV def: "A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21055716] subset: DO_rare_slim subset: NCIthesaurus synonym: "CDA due to KLF1 mutation" EXACT [] synonym: "CDA IV" EXACT OMO:0003012 [] synonym: "CDA type 4" EXACT [] synonym: "CDA type IV" EXACT [] synonym: "CDAN4" EXACT OMO:0003012 [] synonym: "Congenital dyserythropoietic anaemia due to KLF1 mutation" EXACT [] synonym: "Congenital dyserythropoietic anaemia type 4" EXACT [] synonym: "congenital dyserythropoietic anaemia type IV" EXACT [] synonym: "Congenital dyserythropoietic anemia due to KLF1 mutation" EXACT [] synonym: "Congenital dyserythropoietic anemia type 4" EXACT [] xref: MIM:613673 xref: NCI:C157148 xref: ORDO:293825 xref: SNOMEDCT_US_2023_03_01:719453009 xref: UMLS_CUI:C3150926 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1338 ! congenital dyserythropoietic anemia [Term] id: DOID:0111401 name: congenital dyserythropoietic anemia type II def: "A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19561605] subset: DO_rare_slim subset: NCIthesaurus synonym: "CDA II" EXACT OMO:0003012 [] synonym: "CDA type 2" EXACT [] synonym: "CDA type II" EXACT [] synonym: "CDAN2" EXACT OMO:0003012 [] synonym: "Congenital dyserythropoietic anaemia type 2" EXACT [] synonym: "congenital dyserythropoietic anaemia type II" EXACT [] synonym: "Congenital dyserythropoietic anemia type 2" EXACT [] synonym: "Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)" EXACT [] synonym: "SEC23B-CDG" EXACT OMO:0003012 [] xref: GARD:2001 xref: MESH:D000742 xref: MIM:224100 xref: NCI:C175991 xref: ORDO:98873 xref: SNOMEDCT_US_2023_03_01:68870007 xref: UMLS_CUI:C1306589 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1338 ! congenital dyserythropoietic anemia [Term] id: DOID:0111402 name: mucopolysaccharidosis type IIID def: "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12573255] subset: DO_rare_slim subset: NCIthesaurus synonym: "GNS deficiency" EXACT [] synonym: "MPS IIID" EXACT OMO:0003012 [] synonym: "MPS3D" EXACT OMO:0003012 [] synonym: "Mucopolysaccharidosis type 3D" EXACT [] synonym: "N-acetylglucosamine-6-sulfatase deficiency" EXACT [] synonym: "Sanfilippo syndrome D" EXACT [] synonym: "Sanfilippo syndrome type D" EXACT [] xref: GARD:7074 xref: ICD10CM:E76.22 xref: MESH:D009084 xref: MIM:252940 xref: NCI:C84900 xref: ORDO:79272 xref: SNOMEDCT_US_2023_03_01:15892005 xref: UMLS_CUI:C0086650 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12801 ! mucopolysaccharidosis III [Term] id: DOID:0111403 name: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations def: "A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30449657] synonym: "MCCCHCM" EXACT OMO:0003012 [] xref: MIM:618273 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050888 ! syndromic intellectual disability [Term] id: DOID:0111404 name: Jalili syndrome def: "A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19200527, url:https\://www.ncbi.nlm.nih.gov/pubmed/3236352] subset: DO_rare_slim synonym: "Cone rod dystrophy-amelogenesis imperfecta syndrome" EXACT [] synonym: "cone-rod dystrophy and amelogenesis imperfecta" EXACT [] xref: GARD:1463 xref: MESH:C000596385 xref: MIM:217080 xref: ORDO:1873 xref: SNOMEDCT_US_2023_03_01:707608003 xref: UMLS_CUI:C3495589 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111405 name: Fraser syndrome 1 def: "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12766769] synonym: "FRASRS1" EXACT OMO:0003012 [] xref: MIM:219000 is_a: DOID:0090001 ! Fraser syndrome [Term] id: DOID:0111406 name: Fraser syndrome 3 def: "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22510445] synonym: "FRASRS3" EXACT OMO:0003012 [] xref: MIM:617667 is_a: DOID:0090001 ! Fraser syndrome [Term] id: DOID:0111407 name: Fraser syndrome 2 def: "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15838507] synonym: "FRASRS2" EXACT OMO:0003012 [] xref: MIM:617666 is_a: DOID:0090001 ! Fraser syndrome [Term] id: DOID:0111408 name: exudative vitreoretinopathy 5 def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the TSPAN12 gene on chromosome 7q31.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20159111] synonym: "EVR5" EXACT OMO:0003012 [] xref: MESH:C567648 xref: MIM:613310 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111409 name: exudative vitreoretinopathy 3 def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11179025, url:https\://www.ncbi.nlm.nih.gov/pubmed/15665352] synonym: "EVR3" EXACT OMO:0003012 [] xref: MESH:C565297 xref: MIM:605750 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111410 name: exudative vitreoretinopathy 6 def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the ZNF408 gene on chromosome 11p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23716654] synonym: "EVR6" EXACT OMO:0003012 [] xref: MIM:616468 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111411 name: exudative vitreoretinopathy 4 def: "An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15024691] synonym: "EVR4" EXACT OMO:0003012 [] xref: MESH:C566619 xref: MIM:601813 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050739 ! autosomal genetic disease [Term] id: DOID:0111412 name: exudative vitreoretinopathy 1 def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12172548] synonym: "EVR1" EXACT OMO:0003012 [] xref: MESH:C536382 xref: MIM:133780 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111413 name: X-linked exudative vitreoretinopathy 2 def: "An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8252044] synonym: "EVR2" EXACT OMO:0003012 [] synonym: "EVRX" EXACT OMO:0003012 [] synonym: "FEVRX" EXACT OMO:0003012 [] xref: MIM:305390 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:0111414 name: trichohepatoenteric syndrome def: "A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28944135] subset: DO_rare_slim synonym: "phenotypic diarrhea" EXACT [] synonym: "SD/THE" EXACT OMO:0003012 [] synonym: "syndromic diarrhea" EXACT [] synonym: "Syndromic diarrhea/Tricho-hepato-enteric syndrome" EXACT [] synonym: "THES" EXACT OMO:0003012 [] synonym: "Tricho-hepato-enteric syndrome" EXACT [] xref: GARD:5258 xref: MESH:C565627 xref: MIM:PS222470 xref: ORDO:84064 xref: SNOMEDCT_US_2023_03_01:703406006 xref: UMLS_CUI:C1857276 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111415 name: trichohepatoenteric syndrome 1 def: "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20176027] synonym: "THES1" EXACT OMO:0003012 [] xref: MIM:222470 is_a: DOID:0111414 ! trichohepatoenteric syndrome [Term] id: DOID:0111416 name: trichohepatoenteric syndrome 2 def: "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22444670] synonym: "THES2" EXACT OMO:0003012 [] xref: MIM:614602 is_a: DOID:0111414 ! trichohepatoenteric syndrome [Term] id: DOID:0111417 name: familial chylomicronemia syndrome def: "A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23525082] subset: DO_rare_slim xref: ORDO:444490 is_a: DOID:1168 ! familial hyperlipidemia [Term] id: DOID:0111418 name: familial apolipoprotein C-II deficiency def: "A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3467353] subset: DO_rare_slim synonym: "C-II anapolipoproteinemia" EXACT [] synonym: "familial apoC-II deficiency" EXACT [] synonym: "familial APOC2 deficiency" EXACT [] synonym: "hyperlipoproteinemia, type 1b" EXACT [] synonym: "hyperlipoproteinemia, type Ib" EXACT [] xref: MESH:D008072 xref: MIM:207750 xref: ORDO:309020 xref: SNOMEDCT_US_2023_03_01:33513003 xref: UMLS_CUI:C0268199 xref: UMLS_CUI:C1720779 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111417 ! familial chylomicronemia syndrome [Term] id: DOID:0111419 name: familial chylomicronemia due to inhibition of lipoprotein lipase activity def: "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6833877] xref: MIM:118830 is_a: DOID:0111417 ! familial chylomicronemia syndrome [Term] id: DOID:0111420 name: familial GPIHBP1 deficiency def: "A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17883852, url:https\://www.ncbi.nlm.nih.gov/pubmed/23525082] subset: DO_rare_slim synonym: "familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency" EXACT [] synonym: "hyperlipoproteinemia type 1D" EXACT [] synonym: "hyperlipoproteinemia type ID" EXACT [] xref: MIM:615947 xref: ORDO:535458 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111417 ! familial chylomicronemia syndrome [Term] id: DOID:0111421 name: familial apolipoprotein A5 deficiency def: "A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16200213, url:https\://www.ncbi.nlm.nih.gov/pubmed/23525082] subset: DO_rare_slim synonym: "familial APOA5 deficiency" EXACT [] synonym: "familial apolipoprotein A-V deficiency" EXACT [] xref: MIM:144650 xref: ORDO:530849 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111417 ! familial chylomicronemia syndrome [Term] id: DOID:0111422 name: familial lipase maturation factor 1 deficiency def: "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17994020, url:https\://www.ncbi.nlm.nih.gov/pubmed/23525082] subset: DO_rare_slim synonym: "combined lipase deficiency" EXACT [] synonym: "familial LMF1 deficiency" EXACT [] synonym: "lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency" EXACT [] synonym: "LPL and HL deficiency" EXACT [] synonym: "LPL and HTGL deficiency" EXACT [] xref: MIM:246650 xref: ORDO:535453 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111417 ! familial chylomicronemia syndrome [Term] id: DOID:0111423 name: branchiootorenal syndrome 1 def: "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9020840] synonym: "BOR1" EXACT OMO:0003012 [] xref: MIM:113650 is_a: DOID:14702 ! branchiootorenal syndrome [Term] id: DOID:0111424 name: branchiootorenal syndrome 2 def: "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17357085] synonym: "BOR2" EXACT OMO:0003012 [] xref: MIM:610896 is_a: DOID:14702 ! branchiootorenal syndrome [Term] id: DOID:0111425 name: restrictive cardiomyopathy 1 def: "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12531876] synonym: "familial restrictive cardiomyopathy 1" EXACT [] synonym: "RCM1" EXACT OMO:0003012 [] xref: MIM:115210 is_a: DOID:397 ! restrictive cardiomyopathy [Term] id: DOID:0111426 name: restrictive cardiomyopathy 2 def: "A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16061566] synonym: "familial restrictive cardiomyopathy 2" EXACT [] synonym: "RCM2" EXACT OMO:0003012 [] xref: MIM:609578 is_a: DOID:397 ! restrictive cardiomyopathy [Term] id: DOID:0111427 name: restrictive cardiomyopathy 3 def: "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNT2 gene on chromosome 1q32.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16651346] synonym: "familial restrictive cardiomyopathy 3" EXACT [] synonym: "RCM3" EXACT OMO:0003012 [] xref: MIM:612422 is_a: DOID:397 ! restrictive cardiomyopathy [Term] id: DOID:0111428 name: essential tremor 1 def: "An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16650084] synonym: "ETM1" EXACT OMO:0003012 [] synonym: "hereditary essential tremor 1" EXACT [] xref: MIM:190300 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4990 ! essential tremor [Term] id: DOID:0111429 name: essential tremor 2 def: "An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9399207] synonym: "ETM2" EXACT OMO:0003012 [] synonym: "hereditary essential tremor 2" EXACT [] xref: MIM:602134 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4990 ! essential tremor [Term] id: DOID:0111430 name: essential tremor 3 def: "An essential tremor that has_material_basis_in variation in a region on chromosome 6p23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16702189] synonym: "ETM3" EXACT OMO:0003012 [] synonym: "hereditary essential tremor 3" EXACT [] xref: MIM:611456 is_a: DOID:4990 ! essential tremor [Term] id: DOID:0111431 name: essential tremor 4 def: "An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22863194] synonym: "ETM4" EXACT OMO:0003012 [] synonym: "hereditary essential tremor 4" EXACT [] xref: MIM:614782 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4990 ! essential tremor [Term] id: DOID:0111432 name: essential tremor 5 def: "An essential tremor that has_material_basis_in heterozygous mutation in the TENM4 gene on chromosome 11q14.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26188006] synonym: "ETM5" EXACT OMO:0003012 [] synonym: "hereditary essential tremor 5" EXACT [] xref: MIM:616736 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4990 ! essential tremor [Term] id: DOID:0111433 name: optic atrophy 3 def: "An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15342707] subset: DO_rare_slim synonym: "ADOAC" EXACT OMO:0003012 [] synonym: "autosomal dominant optic atrophy 3" EXACT [] synonym: "autosomal dominant optic atrophy and cataract" EXACT [] synonym: "autosomal dominant optic atrophy type 3" EXACT [] synonym: "OPA3" EXACT OMO:0003012 [] synonym: "optic atrophy 3 with cataract" EXACT [] xref: GARD:10203 xref: MESH:C537128 xref: MIM:165300 xref: ORDO:67036 xref: SNOMEDCT_US_2023_03_01:719517009 xref: UMLS_CUI:C1833809 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0111434 name: optic atrophy 10 def: "An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26593267] synonym: "OPA10" EXACT OMO:0003012 [] synonym: "optic atrophy 10 with or without ataxia, mental retardation, and seizures" EXACT [] xref: MIM:616732 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0111435 name: optic atrophy 6 def: "An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14508503] synonym: "OPA6" EXACT OMO:0003012 [] xref: MESH:C537127 xref: MIM:258500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0111436 name: optic atrophy 11 def: "An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27495975] synonym: "OPA11" EXACT OMO:0003012 [] xref: MIM:617302 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0111437 name: optic atrophy 7 def: "An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19327736] synonym: "OPA7" EXACT OMO:0003012 [] synonym: "optic atrophy 7 with or without auditory neuropathy" EXACT [] xref: MESH:C567833 xref: MIM:612989 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0111438 name: optic atrophy 5 def: "An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28969390] synonym: "OPA5" EXACT OMO:0003012 [] xref: MESH:C537126 xref: MIM:610708 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0111439 name: optic atrophy 8 def: "An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21349918] synonym: "OPA8" EXACT OMO:0003012 [] xref: MIM:616648 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0111440 name: optic atrophy 4 def: "An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10369594] synonym: "OPA4" EXACT OMO:0003012 [] xref: MESH:C565343 xref: MIM:605293 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0111441 name: optic atrophy 1 def: "An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11017079, url:https\://www.ncbi.nlm.nih.gov/pubmed/11017080, url:https\://www.ncbi.nlm.nih.gov/pubmed/9514489] synonym: "OPA1" EXACT OMO:0003012 [] xref: MIM:165500 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0111442 name: optic atrophy 9 def: "An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25351951] synonym: "OPA9" EXACT OMO:0003012 [] xref: MIM:616289 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0111443 name: optic atrophy 2 def: "An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9382106] synonym: "OPA2" EXACT OMO:0003012 [] synonym: "X-linked optic atrophy 2" EXACT [] xref: MIM:311050 is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0111444 name: progressive myoclonus epilepsy 4 def: "A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15364701, url:https\://www.ncbi.nlm.nih.gov/pubmed/19847901] subset: DO_rare_slim synonym: "action myoclonus-renal failure syndrome" EXACT [] synonym: "AMRF" EXACT OMO:0003012 [] synonym: "EPM4" EXACT OMO:0003012 [] synonym: "Myoclonus-nephropathy syndrome" EXACT [] xref: MESH:D020191 xref: MIM:254900 xref: ORDO:163696 xref: SNOMEDCT_US_2023_03_01:764453009 xref: UMLS_CUI:C0751779 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111445 name: progressive myoclonus epilepsy 10 def: "A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22961547] subset: DO_rare_slim synonym: "early-onset Lafora body disease" EXACT [] synonym: "EPM10" EXACT OMO:0003012 [] xref: MIM:616640 xref: ORDO:324290 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111446 name: progressive myoclonus epilepsy 3 def: "A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17455289, url:https\://www.ncbi.nlm.nih.gov/pubmed/22748208] subset: DO_rare_slim synonym: "CLN14 disease" EXACT [] synonym: "EPM3" EXACT OMO:0003012 [] synonym: "neuronal ceroid lipofuscinosis 14" EXACT [] synonym: "PME type 3" EXACT [] synonym: "Progressive myoclonic epilepsy due to KCTD7 deficiency" EXACT [] synonym: "Progressive myoclonus epilepsy type 3" EXACT [] xref: GARD:2167 xref: MESH:C567095 xref: MIM:611726 xref: ORDO:263516 xref: SNOMEDCT_US_2023_03_01:783064000 xref: UMLS_CUI:C2673257 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111447 name: progressive myoclonus epilepsy 7 def: "A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25401298] subset: DO_rare_slim subset: NCIthesaurus synonym: "EPM7" EXACT OMO:0003012 [] synonym: "MEAK" EXACT OMO:0003012 [] synonym: "Myoclonus epilepsy and ataxia due to potassium channel mutation" EXACT [] synonym: "PME type 7" EXACT [] synonym: "Progressive myoclonic epilepsy due to KV3.1 deficiency" EXACT [] synonym: "Progressive myoclonus epilepsy type 7" EXACT [] xref: MIM:616187 xref: NCI:C142804 xref: ORDO:435438 xref: SNOMEDCT_US_2023_03_01:1208939001 xref: UMLS_CUI:C4015420 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111448 name: progressive myoclonus epilepsy 1B def: "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18976727] synonym: "EPM1B" EXACT OMO:0003012 [] xref: MIM:612437 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3535 ! Unverricht-Lundborg syndrome [Term] id: DOID:0111449 name: progressive myoclonus epilepsy 6 def: "A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21549339] subset: DO_rare_slim synonym: "EPM6" EXACT OMO:0003012 [] synonym: "GOSR2-related progressive myoclonus ataxia" EXACT [] synonym: "North Sea progressive myoclonus epilepsy" EXACT [] synonym: "PME type 6" EXACT [] synonym: "Progressive myoclonus epilepsy type 6" EXACT [] xref: GARD:3872 xref: MIM:614018 xref: ORDO:280620 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111450 name: progressive myoclonus epilepsy 9 def: "A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25954030] subset: DO_rare_slim synonym: "EMP9" EXACT OMO:0003012 [] synonym: "PME type 9" EXACT [] synonym: "progressive myoclonic epilepsy due to LMNB2 deficiency" EXACT [] synonym: "progressive myoclonus epilepsy type 9" EXACT [] xref: MIM:616540 xref: ORDO:457265 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111451 name: progressive myoclonus epilepsy 8 def: "A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19243074, url:https\://www.ncbi.nlm.nih.gov/pubmed/24782409] subset: DO_rare_slim synonym: "EMP8" EXACT OMO:0003012 [] synonym: "PME type 8" EXACT [] synonym: "progressive myoclonic epilepsy due to CERS1 deficiency" EXACT [] synonym: "progressive myoclonus epilepsy type 8" EXACT [] xref: MIM:616230 xref: ORDO:424027 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111452 name: progressive myoclonus epilepsy 1A def: "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8596935] synonym: "EPM1A" EXACT OMO:0003012 [] xref: MIM:254800 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3535 ! Unverricht-Lundborg syndrome [Term] id: DOID:0111453 name: 2-aminoadipic 2-oxoadipic aciduria def: "An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23141293] subset: DO_rare_slim synonym: "alpha-aminoadipic aciduria" EXACT [] synonym: "AMOXAD" EXACT OMO:0003012 [] xref: MIM:204750 xref: ORDO:79154 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111454 name: SHORT syndrome def: "A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13." [url:https\://ghr.nlm.nih.gov/condition/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay, url:https\://www.ncbi.nlm.nih.gov/pubmed/23810382] subset: DO_rare_slim synonym: "Aarskog-Ose-Pande syndrome" EXACT [] synonym: "Lipodystrophy-Rieger anomaly-diabetes syndrome" EXACT [] synonym: "Rieger anomaly-partial lipodystrophy syndrome" EXACT [] synonym: "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" EXACT [] xref: GARD:7633 xref: MESH:C537327 xref: MIM:269880 xref: ORDO:3163 xref: UMLS_CUI:C0878684 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111455 name: GRACILE syndrome def: "A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12215968, url:https\://www.ncbi.nlm.nih.gov/pubmed/9482441] subset: DO_rare_slim synonym: "Fellman disease" EXACT [] synonym: "Finnish lactic acidosis with hepatic hemosiderosis" EXACT [] synonym: "Finnish lethal neonatal metabolic syndrome" EXACT [] synonym: "FLNMS" EXACT OMO:0003012 [] synonym: "growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [] synonym: "growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [] synonym: "growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death" EXACT [] xref: GARD:1 xref: MESH:C537934 xref: MIM:603358 xref: ORDO:53693 xref: SNOMEDCT_US_2023_03_01:703388005 xref: UMLS_CUI:C1864002 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0111456 name: Kaufman oculocerebrofacial syndrome def: "A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11." [url:https\://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/23200864] subset: DO_rare_slim synonym: "blepharophimosis ptosis intellectual disability syndrome" EXACT [] synonym: "oculocerebrofacial syndrome, Kaufman type" EXACT [] xref: GARD:3084 xref: MESH:C537013 xref: MIM:244450 xref: ORDO:2707 xref: SNOMEDCT_US_2023_03_01:722056009 xref: UMLS_CUI:C1855663 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050888 ! syndromic intellectual disability [Term] id: DOID:0111457 name: STING-associated vasculopathy with onset in infancy def: "An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25029335] subset: DO_rare_slim synonym: "SAVI" EXACT OMO:0003012 [] xref: GARD:12357 xref: MIM:615934 xref: ORDO:425120 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060051 ! autoimmune disease of cardiovascular system [Term] id: DOID:0111458 name: galactose epimerase deficiency def: "A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8593531, url:https\://www.ncbi.nlm.nih.gov/pubmed/9700591] subset: DO_rare_slim synonym: "epimerase deficiency galactosemia" EXACT [] synonym: "galactosemia III" EXACT [] synonym: "galactosemia type 3" EXACT [] synonym: "GALE deficiency" EXACT [] synonym: "GALE-D" EXACT OMO:0003012 [] synonym: "UDP-galactose-4-epimerase deficiency" EXACT [] synonym: "uridine diphosphate galactose-4-epimerase deficiency" EXACT [] xref: GARD:5392 xref: MESH:D005693 xref: MIM:230350 xref: ORDO:79238 xref: SNOMEDCT_US_2023_03_01:8849004 xref: UMLS_CUI:C0751161 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9870 ! galactosemia [Term] id: DOID:0111459 name: classic galactosemia def: "A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11261429] subset: DO_rare_slim subset: NCIthesaurus synonym: "galactose-1-phosphate uridyltransferase deficiency" EXACT [] synonym: "galactosemia type 1" EXACT [] synonym: "GALT deficiency" EXACT [] xref: GARD:13639 xref: MESH:D005693 xref: MIM:230400 xref: NCI:C99104 xref: ORDO:79239 xref: SNOMEDCT_US_2023_03_01:398664009 xref: UMLS_CUI:C0268151 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9870 ! galactosemia [Term] id: DOID:0111460 name: cardiofaciocutaneous syndrome 1 def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16474404] synonym: "CFC1" EXACT OMO:0003012 [] xref: MIM:115150 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060233 ! cardiofaciocutaneous syndrome [Term] id: DOID:0111461 name: cardiofaciocutaneous syndrome 2 def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16474404] synonym: "CFC2" EXACT OMO:0003012 [] xref: MIM:615278 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060233 ! cardiofaciocutaneous syndrome [Term] id: DOID:0111462 name: cardiofaciocutaneous syndrome 3 def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16439621] synonym: "CFC3" EXACT OMO:0003012 [] xref: MIM:615279 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060233 ! cardiofaciocutaneous syndrome [Term] id: DOID:0111463 name: cardiofaciocutaneous syndrome 4 def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20358587] synonym: "CFC4" EXACT OMO:0003012 [] xref: MIM:615280 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060233 ! cardiofaciocutaneous syndrome [Term] id: DOID:0111464 name: combined oxidative phosphorylation deficiency 35 def: "A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24901367, url:https\://www.ncbi.nlm.nih.gov/pubmed/28185376] synonym: "COXPD35" EXACT OMO:0003012 [] xref: MIM:617873 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111465 name: combined oxidative phosphorylation deficiency 21 def: "A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24827421] subset: DO_rare_slim synonym: "COXPD21" EXACT OMO:0003012 [] xref: MIM:615918 xref: ORDO:420733 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111466 name: combined oxidative phosphorylation deficiency 38 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30358850] synonym: "COXPD38" EXACT OMO:0003012 [] xref: MIM:618378 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111467 name: combined oxidative phosphorylation deficiency 13 def: "A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23084291] synonym: "COXPD13" EXACT OMO:0003012 [] xref: MIM:614932 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111468 name: combined oxidative phosphorylation deficiency 25 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25754315] subset: DO_rare_slim synonym: "COXPD25" EXACT OMO:0003012 [] xref: MIM:616430 xref: ORDO:447954 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111469 name: combined oxidative phosphorylation deficiency 16 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23315540] subset: DO_rare_slim synonym: "COXPD16" EXACT OMO:0003012 [] synonym: "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency" EXACT [] xref: GARD:12892 xref: MIM:615395 xref: ORDO:352563 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111470 name: combined oxidative phosphorylation deficiency 28 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27132592] subset: DO_rare_slim synonym: "COXPD28" EXACT OMO:0003012 [] synonym: "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect" EXACT [] xref: MIM:616794 xref: ORDO:466784 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111471 name: combined oxidative phosphorylation deficiency 30 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27132592] subset: DO_rare_slim synonym: "COXPD30" EXACT OMO:0003012 [] xref: MIM:616974 xref: ORDO:478042 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111472 name: combined oxidative phosphorylation deficiency 9 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21786366] subset: DO_rare_slim synonym: "COXPD9" EXACT OMO:0003012 [] xref: MIM:614582 xref: ORDO:319509 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111473 name: combined oxidative phosphorylation deficiency 5 def: "A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17873122, url:https\://www.ncbi.nlm.nih.gov/pubmed/21189481] subset: DO_rare_slim synonym: "COXPD5" EXACT OMO:0003012 [] synonym: "hypotonia with lactic acidemia and hyperammonemia" EXACT [] xref: MESH:C567126 xref: MIM:611719 xref: ORDO:137908 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111474 name: combined oxidative phosphorylation deficiency 1 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32." [url:https\://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1] subset: DO_rare_slim subset: NCIthesaurus synonym: "COXPD1" EXACT OMO:0003012 [] synonym: "early fatal progressive hepatoencephalopathy" EXACT [] synonym: "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" EXACT [] synonym: "hepatoencephalopathy due to COXPD1" EXACT [] xref: MESH:C563797 xref: MIM:609060 xref: NCI:C125663 xref: ORDO:137681 xref: UMLS_CUI:C1836797 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111475 name: combined oxidative phosphorylation deficiency 39 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22700954] synonym: "COXPD39" EXACT OMO:0003012 [] xref: MIM:618397 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111476 name: combined oxidative phosphorylation deficiency 19 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23814038] subset: DO_rare_slim synonym: "COXPD19" EXACT OMO:0003012 [] synonym: "severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency" EXACT [] xref: MIM:615595 xref: ORDO:397593 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111477 name: combined oxidative phosphorylation deficiency 14 def: "A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22499341, url:https\://www.ncbi.nlm.nih.gov/pubmed/22833457] subset: DO_rare_slim synonym: "COXPD14" EXACT OMO:0003012 [] xref: MIM:614946 xref: ORDO:319519 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111478 name: combined oxidative phosphorylation deficiency 20 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25058219] subset: DO_rare_slim synonym: "COXPD20" EXACT OMO:0003012 [] xref: MIM:615917 xref: ORDO:420728 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111479 name: combined oxidative phosphorylation deficiency 8 def: "A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21549344] subset: DO_rare_slim synonym: "COXPD8" EXACT OMO:0003012 [] xref: MIM:614096 xref: ORDO:319504 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111480 name: combined oxidative phosphorylation deficiency 10 def: "A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22608499] subset: DO_rare_slim synonym: "COXPD10" EXACT OMO:0003012 [] synonym: "infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis" EXACT [] synonym: "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" EXACT [] xref: MIM:614702 xref: ORDO:314637 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111481 name: combined oxidative phosphorylation deficiency 11 def: "A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23022099] subset: DO_rare_slim synonym: "COXPD11" EXACT OMO:0003012 [] synonym: "infantile encephaloneuromyopathy due to mitochondrial translation defect" EXACT [] xref: MIM:614922 xref: ORDO:324535 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111482 name: combined oxidative phosphorylation deficiency 36 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29576219] synonym: "COXPD36" EXACT OMO:0003012 [] xref: MIM:617950 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111483 name: combined oxidative phosphorylation deficiency 2 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15505824] subset: DO_rare_slim synonym: "agenesis of corpus callosum with dysmorphism and fatal lactic acidosis" EXACT [] synonym: "COXPD2" EXACT OMO:0003012 [] xref: MESH:C566468 xref: MIM:610498 xref: ORDO:254920 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111484 name: combined oxidative phosphorylation deficiency 18 def: "A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24119684] subset: DO_rare_slim synonym: "COXPD18" EXACT OMO:0003012 [] synonym: "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome" EXACT [] xref: MIM:615578 xref: ORDO:391348 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111485 name: combined oxidative phosphorylation deficiency 24 def: "A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25385316, url:https\://www.ncbi.nlm.nih.gov/pubmed/25629079, url:https\://www.ncbi.nlm.nih.gov/pubmed/28077841] subset: DO_rare_slim synonym: "COXPD24" EXACT OMO:0003012 [] xref: MIM:616239 xref: ORDO:444458 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111486 name: combined oxidative phosphorylation deficiency 3 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17033963, url:https\://www.ncbi.nlm.nih.gov/pubmed/25037205] subset: DO_rare_slim synonym: "concentric cardiomyopathy, hypotonia, and lactic acidosis" EXACT [] synonym: "COXPD3" EXACT OMO:0003012 [] synonym: "encephalomyopathy, respiratory failure, and lactic acidosis" EXACT [] synonym: "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3" EXACT [] synonym: "Fatal mitochondrial disease due to COXPD3" EXACT [] xref: MESH:C566467 xref: MIM:610505 xref: ORDO:168566 xref: UMLS_CUI:C1864840 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111487 name: combined oxidative phosphorylation deficiency 7 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20598281] subset: DO_rare_slim synonym: "COXPD7" EXACT OMO:0003012 [] synonym: "severe C12ORF65-related combined oxidative phosphorylation defect" EXACT [] synonym: "severe C12ORF65-related COXPD" EXACT [] xref: MIM:613559 xref: ORDO:254930 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111488 name: combined oxidative phosphorylation deficiency 31 def: "A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27799064] subset: DO_rare_slim synonym: "COXPD31" EXACT OMO:0003012 [] synonym: "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome" EXACT [] xref: MIM:617228 xref: ORDO:478049 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111489 name: combined oxidative phosphorylation deficiency 27 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25361775, url:https\://www.ncbi.nlm.nih.gov/pubmed/25787132] subset: DO_rare_slim synonym: "COXPD27" EXACT OMO:0003012 [] xref: MIM:616672 xref: ORDO:477774 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111490 name: combined oxidative phosphorylation deficiency 26 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26189817] subset: DO_rare_slim synonym: "COXPD26" EXACT OMO:0003012 [] xref: MIM:616539 xref: ORDO:477684 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111491 name: combined oxidative phosphorylation deficiency 15 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21907147] subset: DO_rare_slim synonym: "COXPD15" EXACT OMO:0003012 [] xref: MIM:614947 xref: ORDO:319524 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111492 name: combined oxidative phosphorylation deficiency 32 def: "A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28777931] synonym: "COXPD32" EXACT OMO:0003012 [] xref: MIM:617664 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111493 name: combined oxidative phosphorylation deficiency 12 def: "A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22492562, url:https\://www.ncbi.nlm.nih.gov/pubmed/23008233] subset: DO_rare_slim synonym: "COXPD12" EXACT OMO:0003012 [] synonym: "leukoencephalopathy with thalamus and brainstem involvement and high lactate" EXACT [] synonym: "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" EXACT [] synonym: "LTBL" EXACT OMO:0003012 [] xref: GARD:13381 xref: MIM:614924 xref: ORDO:314051 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111494 name: combined oxidative phosphorylation deficiency 4 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17160893] subset: DO_rare_slim synonym: "COXPD4" EXACT OMO:0003012 [] xref: MESH:C565690 xref: MIM:610678 xref: ORDO:254925 xref: SNOMEDCT_US_2023_03_01:766876004 xref: UMLS_CUI:C1857682 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111495 name: combined oxidative phosphorylation deficiency 33 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28942965] synonym: "COXPD33" EXACT OMO:0003012 [] xref: MIM:617713 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111496 name: combined oxidative phosphorylation deficiency 17 def: "A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23849775] subset: DO_rare_slim synonym: "COXPD17" EXACT OMO:0003012 [] xref: MIM:615440 xref: ORDO:369913 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111497 name: combined oxidative phosphorylation deficiency 34 def: "A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25556185] subset: DO_rare_slim synonym: "COXPD34" EXACT OMO:0003012 [] synonym: "syndromic sensorineural deafness due to combined oxidative phosphorylation defect" EXACT [] synonym: "syndromic sensorineural deafness due to COXPD" EXACT [] synonym: "syndromic sensorineural hearing loss due to COXPD" EXACT [] xref: MIM:617872 xref: ORDO:457223 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111498 name: combined oxidative phosphorylation deficiency 22 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23596069] synonym: "COXPD22" EXACT OMO:0003012 [] xref: MIM:616045 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111499 name: combined oxidative phosphorylation deficiency 37 def: "A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27485409] synonym: "COXPD37" EXACT OMO:0003012 [] xref: MIM:618329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111500 name: combined oxidative phosphorylation deficiency 23 def: "A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25434004] subset: DO_rare_slim synonym: "COXPD23" EXACT OMO:0003012 [] xref: MIM:616198 xref: ORDO:444013 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111501 name: combined oxidative phosphorylation deficiency 29 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26626369] synonym: "COXPD29" EXACT OMO:0003012 [] xref: MIM:616811 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111502 name: combined oxidative phosphorylation deficiency 6 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20362274] subset: DO_rare_slim synonym: "COXPD6" EXACT OMO:0003012 [] synonym: "Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6" EXACT [] synonym: "Mitochondrial encephalomyopathy due to COXPD6" EXACT [] synonym: "severe X-linked mitochondrial encephalomyopathy" EXACT [] xref: MIM:300816 xref: ORDO:238329 is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111503 name: Li-Fraumeni syndrome 1 def: "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1978757] synonym: "LFS1" EXACT OMO:0003012 [] xref: MIM:151623 is_a: DOID:3012 ! Li-Fraumeni syndrome [Term] id: DOID:0111504 name: Li-Fraumeni syndrome 2 def: "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11479205] synonym: "LFS2" EXACT OMO:0003012 [] xref: MESH:C563755 xref: MIM:609265 is_a: DOID:3012 ! Li-Fraumeni syndrome [Term] id: DOID:0111505 name: palmoplantar keratoderma-deafness syndrome def: "A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10633135, url:https\://www.ncbi.nlm.nih.gov/pubmed/1532426] subset: DO_rare_slim synonym: "keratoderma palmoplantar deafness" EXACT [] synonym: "palmoplantar hyperkeratosis-deafness syndrome" EXACT [] synonym: "palmoplantar hyperkeratosis-hearing loss syndrome" EXACT [] synonym: "palmoplantar keratoderma with deafness" EXACT [] synonym: "palmoplantar keratoderma-hearing loss syndrome" EXACT [] synonym: "PPK-deafness syndrome" EXACT [] xref: GARD:3094 xref: MESH:C536152 xref: MIM:148350 xref: ORDO:2202 xref: SNOMEDCT_US_2023_03_01:722203001 xref: UMLS_CUI:C1835672 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111506 name: palmoplantar keratoderma-esophageal carcinoma syndrome def: "A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/13579162, url:https\://www.ncbi.nlm.nih.gov/pubmed/22265016] subset: DO_rare_slim synonym: "Bennion-Patterson syndrome" EXACT [] synonym: "Howell-Evans syndrome" EXACT [] synonym: "keratosis palmaris et plantaris with esophageal cancer" EXACT [] synonym: "keratosis palmoplantaris-esophageal carcinoma syndrome" EXACT [] synonym: "palmoplantar hyperkeratosis-esophageal carcinoma syndrome" EXACT [] synonym: "palmoplantar keratoderma with esophageal cancer" EXACT [] synonym: "TOC" EXACT OMO:0003012 [] synonym: "tylosis with esophageal cancer" EXACT [] synonym: "tylosis-oesophageal carcinoma syndrome" EXACT [] xref: GARD:3102 xref: MESH:C536164 xref: MIM:148500 xref: ORDO:2198 xref: UMLS_CUI:C1835664 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111507 name: Lenz-Majewski hyperostotic dwarfism def: "A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24241535] subset: DO_rare_slim synonym: "Lenz-Majewski syndrome" EXACT [] xref: GARD:3223 xref: MESH:C537115 xref: MIM:151050 xref: ORDO:2658 xref: SNOMEDCT_US_2023_03_01:1393001 xref: UMLS_CUI:C0432269 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111508 name: Torrance type platyspondylic dysplasia def: "An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14729840, url:https\://www.ncbi.nlm.nih.gov/pubmed/448481] subset: DO_rare_slim synonym: "lethal short-limbed platyspondylic dwarfism, Torrance type" EXACT [] synonym: "platyspondylic dysplasia, Torrance-Luton type" EXACT [] synonym: "platyspondylic lethal skeletal dysplasia, Torrance type" EXACT [] synonym: "PLSD-T" EXACT OMO:0003012 [] synonym: "PLSDT" EXACT OMO:0003012 [] synonym: "thanatophoric dysplasia, Torrance variant" EXACT [] xref: GARD:4382 xref: MESH:C563627 xref: MIM:151210 xref: ORDO:85166 xref: UMLS_CUI:C1835437 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0111509 name: lymphedema-distichiasis syndrome def: "A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11078474] subset: DO_rare_slim subset: NCIthesaurus synonym: "LPHDST" EXACT OMO:0003012 [] synonym: "lymphedema with distichiasis" EXACT [] xref: GARD:333 xref: MESH:C537710 xref: MIM:153400 xref: NCI:C128191 xref: ORDO:33001 xref: SNOMEDCT_US_2023_03_01:8634009 xref: UMLS_CUI:C0265345 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111510 name: Marshall syndrome def: "An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome." [url:https\://www.ncbi.nlm.nih.gov/pubmed/13520885, url:https\://www.ncbi.nlm.nih.gov/pubmed/25073711, url:https\://www.ncbi.nlm.nih.gov/pubmed/9529347] subset: DO_rare_slim subset: NCIthesaurus synonym: "deafness, myopia, cataract, saddle nose-Marshall type" EXACT [] synonym: "MRSHS" EXACT OMO:0003012 [] xref: GARD:6984 xref: MESH:C536025 xref: MIM:154780 xref: NCI:C128115 xref: ORDO:560 xref: SNOMEDCT_US_2023_03_01:33410002 xref: UMLS_CUI:C0265235 is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111511 name: melanoma and neural system tumor syndrome def: "A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10797439, url:https\://www.ncbi.nlm.nih.gov/pubmed/8414022, url:https\://www.ncbi.nlm.nih.gov/pubmed/8635060] subset: DO_rare_slim subset: NCIthesaurus synonym: "melanoma-astrocytoma syndrome" EXACT [] xref: GARD:8468 xref: MESH:C536149 xref: MIM:155755 xref: NCI:C176905 xref: ORDO:252206 xref: SNOMEDCT_US_2023_03_01:717968005 xref: UMLS_CUI:C1835042 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111512 name: metachondromatosis def: "An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20577567] subset: DO_rare_slim synonym: "METCDS" EXACT OMO:0003012 [] xref: GARD:3560 xref: MESH:C562938 xref: MIM:156250 xref: ORDO:2499 xref: SNOMEDCT_US_2023_03_01:205481009 xref: UMLS_CUI:C0410530 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0111513 name: metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome def: "An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23290074, url:https\://www.ncbi.nlm.nih.gov/pubmed/7137223] subset: DO_rare_slim synonym: "metaphyseal dysplasia maxillary hypoplasia brachydactyly" EXACT [] synonym: "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly" EXACT [] xref: GARD:3568 xref: MIM:156510 xref: ORDO:2504 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0111514 name: metatropic dysplasia def: "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11." [url:https\://ghr.nlm.nih.gov/condition/metatropic-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/18348257, url:https\://www.ncbi.nlm.nih.gov/pubmed/4963592] subset: DO_rare_slim subset: NCIthesaurus synonym: "metatropic dwarfism" EXACT [] xref: GARD:3571 xref: MESH:C537356 xref: MIM:156530 xref: NCI:C175209 xref: ORDO:2635 xref: SNOMEDCT_US_2023_03_01:22764001 xref: UMLS_CUI:C0265281 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:0111515 name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 def: "A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26094573] subset: DO_rare_slim synonym: "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy" EXACT [] synonym: "adult-onset CPEO with mitochondrial myopathy" EXACT [] synonym: "autosomal recessive progressive external ophthalmoplegia 2" EXACT [] synonym: "PEOB2" EXACT OMO:0003012 [] xref: MIM:616479 xref: ORDO:329336 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111516 name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 def: "A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23043144] subset: DO_rare_slim synonym: "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency" EXACT [] synonym: "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency" EXACT [] synonym: "autosomal recessive progressive external ophthalmoplegia 4" EXACT [] synonym: "PEOB4" EXACT OMO:0003012 [] xref: MIM:617070 xref: ORDO:329314 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111517 name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10926541] synonym: "autosomal dominant progressive external ophthalmoplegia 2" EXACT [] synonym: "PEOA2" EXACT OMO:0003012 [] xref: MIM:609283 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111518 name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19664747] synonym: "autosomal dominant progressive external ophthalmoplegia 5" EXACT [] synonym: "PEOA5" EXACT OMO:0003012 [] xref: MIM:613077 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111519 name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 def: "A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23352259] subset: DO_rare_slim synonym: "autosomal dominant progressive external ophthalmoplegia 6" EXACT [] synonym: "DNA2-related mitochondrial DNA deletion syndrome" EXACT [] synonym: "mitochondrial DNA deletion syndrome with limb-girdle weakness" EXACT [] synonym: "mitochondrial DNA deletion syndrome with progressive myopathy" EXACT [] synonym: "mtDNA deletion syndrome with limb-girdle weakness" EXACT [] synonym: "mtDNA deletion syndrome with progressive myopathy" EXACT [] synonym: "PEOA6" EXACT OMO:0003012 [] xref: MIM:615156 xref: ORDO:352470 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111520 name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11431692] synonym: "autosomal dominant progressive external ophthalmoplegia 3" EXACT [] synonym: "PEOA3" EXACT OMO:0003012 [] xref: MIM:609286 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111521 name: autosomal dominant progressive external ophthalmoplegia 1 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11431686] synonym: "PEOA1" EXACT OMO:0003012 [] xref: MIM:157640 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111522 name: autosomal recessive progressive external ophthalmoplegia 1 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11431686] synonym: "PEOB1" EXACT OMO:0003012 [] xref: MIM:258450 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111523 name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21937588] synonym: "autosomal recessive progressive external ophthalmoplegia 3" EXACT [] synonym: "PEOB3" EXACT OMO:0003012 [] xref: MIM:617069 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111524 name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29290614] synonym: "autosomal recessive progressive external ophthalmoplegia 5" EXACT [] synonym: "PEOB5" EXACT OMO:0003012 [] xref: MIM:618098 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111525 name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16685652] synonym: "autosomal dominant progressive external ophthalmoplegia 4" EXACT [] synonym: "PEOA4" EXACT OMO:0003012 [] xref: MIM:610131 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111526 name: Mullerian aplasia and hyperandrogenism def: "A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15317892] subset: DO_rare_slim subset: NCIthesaurus synonym: "Mullerian duct failure and hyperandrogenism" EXACT [] synonym: "WNT4 deficiency" EXACT [] xref: MESH:C567186 xref: MIM:158330 xref: NCI:C120376 xref: ORDO:247768 xref: UMLS_CUI:C2675014 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1923 ! disorder of sexual development [Term] id: DOID:0111527 name: spinal muscular atrophy with progressive myoclonic epilepsy def: "A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22." [url:https\://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy, url:https\://www.ncbi.nlm.nih.gov/pubmed/22703880] subset: DO_rare_slim synonym: "hereditary myoclonus-progressive distal muscular atrophy syndrome" EXACT [] synonym: "Jankovic-Rivera syndrome" EXACT [] synonym: "SMA-PME" EXACT OMO:0003012 [] synonym: "SMAPME" EXACT OMO:0003012 [] xref: GARD:3044 xref: GARD:3875 xref: MESH:C537563 xref: MIM:159950 xref: ORDO:2590 xref: SNOMEDCT_US_2023_03_01:703524005 xref: UMLS_CUI:C1834569 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111528 name: Naegeli-Franceschetti-Jadassohn syndrome def: "A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2." [url:https\://ghr.nlm.nih.gov/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis, url:https\://www.ncbi.nlm.nih.gov/pubmed/16960809] subset: DO_rare_slim synonym: "Naegeli syndrome" EXACT [] synonym: "NFJ syndrome" EXACT [] xref: GARD:3912 xref: MESH:C538331 xref: MIM:161000 xref: ORDO:69087 xref: SNOMEDCT_US_2023_03_01:239084001 xref: UMLS_CUI:C0343111 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111529 name: familial multiple nevi flammei def: "A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16846771, url:https\://www.ncbi.nlm.nih.gov/pubmed/6716409] subset: DO_rare_slim synonym: "CMC" EXACT OMO:0003012 [] synonym: "congenital capillary malformations" EXACT [] synonym: "familial multiple port-wine stains" EXACT [] xref: GARD:3986 xref: MESH:C535816 xref: MIM:163000 xref: ORDO:624 xref: SNOMEDCT_US_2023_03_01:763714006 xref: UMLS_CUI:C2931029 is_a: DOID:1271 ! capillary disease [Term] id: DOID:0111530 name: linear nevus sebaceous syndrome def: "A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17366580, url:https\://www.ncbi.nlm.nih.gov/pubmed/1918493, url:https\://www.ncbi.nlm.nih.gov/pubmed/22683711, url:https\://www.ncbi.nlm.nih.gov/pubmed/24006476] subset: DO_rare_slim synonym: "Jadassohn nevus phakomatosis" EXACT [] synonym: "JNP" EXACT OMO:0003012 [] synonym: "nevus sebaceus of Jadassohn" EXACT [] synonym: "nevus sebaceus syndrome" EXACT [] synonym: "organoid nevus phakomatosis" EXACT [] synonym: "organoid nevus syndrome" EXACT [] synonym: "Schimmelpenning Feuerstein Mims syndrome" EXACT [] synonym: "Schimmelpenning syndrome" EXACT [] synonym: "SFM syndrome" EXACT [] synonym: "Solomon syndrome" EXACT [] xref: GARD:10291 xref: MIM:163200 xref: ORDO:2612 xref: SNOMEDCT_US_2023_03_01:707136009 xref: UMLS_CUI:C3854181 is_a: DOID:225 ! syndrome [Term] id: DOID:0111531 name: bilateral optic nerve hypoplasia def: "An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12721955] subset: DO_rare_slim subset: NCIthesaurus synonym: "familial bilateral optic nerve hypoplasia" EXACT [] synonym: "isolated optic nerve hypoplasia/aplasia" EXACT [] synonym: "ONH" EXACT OMO:0003012 [] xref: GARD:8419 xref: ICD10CM:H47.03 xref: ICD9CM:377.43 xref: MESH:D000080344 xref: MIM:165550 xref: NCI:C98999 xref: ORDO:137902 xref: SNOMEDCT_US_2023_03_01:95499004 xref: UMLS_CUI:C0338502 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:0111532 name: osteoglophonic dysplasia def: "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23." [url:https\://ghr.nlm.nih.gov/condition/osteoglophonic-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/15625620, url:https\://www.ncbi.nlm.nih.gov/pubmed/7422392] subset: DO_rare_slim synonym: "Fairbank-Keats syndrome" EXACT [] synonym: "OGD" EXACT OMO:0003012 [] synonym: "osteoglophonic dwarfism" EXACT [] xref: GARD:4142 xref: MESH:C536050 xref: MIM:166250 xref: ORDO:2645 xref: SNOMEDCT_US_2023_03_01:254144002 xref: UMLS_CUI:C0432283 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0111533 name: gnathodiaphyseal dysplasia def: "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3." [url:https\://ghr.nlm.nih.gov/condition/gnathodiaphyseal-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/15124103, url:https\://www.ncbi.nlm.nih.gov/pubmed/23047743] subset: DO_rare_slim synonym: "GDD" EXACT OMO:0003012 [] synonym: "gnathodiaphyseal sclerosis" EXACT [] synonym: "Levin syndrome 2" EXACT [] synonym: "osteogenesis imperfecta with unusual skeletal lesions" EXACT [] synonym: "osteogenesis imperfecta, Levin type" EXACT [] xref: GARD:8698 xref: MESH:C536039 xref: MIM:166260 xref: ORDO:53697 xref: SNOMEDCT_US_2023_03_01:715568002 xref: UMLS_CUI:C1833736 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0111534 name: multicentric carpotarsal osteolysis syndrome def: "A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22387013, url:https\://www.ncbi.nlm.nih.gov/pubmed/3041835] subset: DO_rare_slim subset: NCIthesaurus synonym: "autosomal dominant multicentric osteolysis" EXACT [] synonym: "hereditary osteolysis of carpal bones with or without nephropathy" EXACT [] synonym: "idiopathic multicentric osteolysis with or without nephropathy" EXACT [] synonym: "MCTO" EXACT OMO:0003012 [] synonym: "multicentric carpo-tarsal osteolysis with or without nephropathy" EXACT [] synonym: "multicentric osteolysis nephropathy" EXACT [] xref: GARD:3818 xref: MESH:C567171 xref: MIM:166300 xref: NCI:C178416 xref: ORDO:2774 xref: SNOMEDCT_US_2023_03_01:766992008 xref: UMLS_CUI:C2674705 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111535 name: progressive osseous heteroplasia def: "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32." [url:https\://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/11784876, url:https\://www.ncbi.nlm.nih.gov/pubmed/8126048] subset: DO_rare_slim subset: NCIthesaurus synonym: "ectopic ossification familial type" EXACT [] synonym: "familial ectopic ossification" EXACT [] synonym: "osteoma cutis" EXACT [] synonym: "POH" EXACT OMO:0003012 [] xref: GARD:109 xref: MEDDRA:10048902 xref: MESH:C562735 xref: MIM:166350 xref: NCI:C132062 xref: ORDO:2762 xref: SNOMEDCT_US_2023_03_01:404074003 xref: UMLS_CUI:C0334041 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111536 name: Buschke-Ollendorff syndrome def: "A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3." [url:https\://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15489854, url:https\://www.ncbi.nlm.nih.gov/pubmed/19438932] subset: DO_rare_slim synonym: "BOS" EXACT OMO:0003012 [] synonym: "dermatofibrosis lenticularis disseminata with osteopoikilosis" EXACT [] synonym: "dermatoosteopoikilosis" EXACT [] synonym: "disseminated dermatofibrosis with osteopoikilosis" EXACT [] synonym: "osteopathia condensans disseminata" EXACT [] xref: GARD:1044 xref: MESH:C537415 xref: MIM:166700 xref: ORDO:1306 xref: SNOMEDCT_US_2023_03_01:60399005 xref: UMLS_CUI:C0265514 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111537 name: paroxysmal extreme pain disorder def: "An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3." [url:https\://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder, url:https\://www.ncbi.nlm.nih.gov/pubmed/17145499] subset: DO_rare_slim subset: NCIthesaurus synonym: "familial rectal pain" EXACT [] synonym: "PEPD" EXACT OMO:0003012 [] synonym: "PEXPD" EXACT OMO:0003012 [] synonym: "submandibular, ocular and rectal pain with flushing" EXACT [] xref: GARD:12854 xref: MESH:C563475 xref: MIM:167400 xref: NCI:C125385 xref: ORDO:46348 xref: SNOMEDCT_US_2023_03_01:699190008 xref: UMLS_CUI:C1833661 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11465 ! autonomic nervous system disease [Term] id: DOID:0111538 name: paramyotonia congenita of Von Eulenburg def: "A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3." [url:https\://ghr.nlm.nih.gov/condition/paramyotonia-congenita, url:https\://www.ncbi.nlm.nih.gov/pubmed/1316765] subset: DO_rare_slim subset: NCIthesaurus synonym: "Eulenburg disease" EXACT [] synonym: "myotonia congenita intermittens" EXACT [] synonym: "paralysis periodica paramyotonica" EXACT [] synonym: "paramyotonia congenita" EXACT [] synonym: "PMC" EXACT OMO:0003012 [] synonym: "Von Eulenburg paramyotonia congenita" EXACT [] xref: GARD:7325 xref: ICD10CM:G71.19 xref: MESH:D020967 xref: MIM:168300 xref: NCI:C122790 xref: ORDO:684 xref: SNOMEDCT_US_2023_03_01:41574007 xref: UMLS_CUI:C0221055 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:440 ! neuromuscular disease [Term] id: DOID:0111539 name: parastremmatic dwarfism def: "An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20503319, url:https\://www.ncbi.nlm.nih.gov/pubmed/4992387] subset: DO_rare_slim synonym: "parastremmatic dysplasia" EXACT [] xref: GARD:4222 xref: MESH:C537172 xref: MIM:168400 xref: ORDO:2646 xref: SNOMEDCT_US_2023_03_01:722210007 xref: UMLS_CUI:C1868616 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0111540 name: prolidase deficiency def: "An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11." [url:https\://ghr.nlm.nih.gov/condition/prolidase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/18340504, url:https\://www.ncbi.nlm.nih.gov/pubmed/1972707] subset: DO_rare_slim subset: NCIthesaurus synonym: "hyperimidodipeptiduria" EXACT [] synonym: "imidodipeptidase deficiency" EXACT [] synonym: "peptidase deficiency" EXACT [] xref: GARD:7473 xref: MESH:D056732 xref: MIM:170100 xref: NCI:C85029 xref: ORDO:742 xref: SNOMEDCT_US_2023_03_01:360994007 xref: UMLS_CUI:C0268532 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111541 name: pigmented paravenous chorioretinal atrophy def: "An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15623792, url:https\://www.ncbi.nlm.nih.gov/pubmed/3778279] subset: DO_rare_slim synonym: "PPRCA" EXACT OMO:0003012 [] xref: MESH:C566801 xref: MIM:172870 xref: ORDO:251295 xref: SNOMEDCT_US_2023_03_01:723450004 xref: UMLS_CUI:C1868310 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5614 ! eye disease [Term] id: DOID:0111542 name: familial expansile osteolysis def: "A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10615125, url:https\://www.ncbi.nlm.nih.gov/pubmed/12362049, url:https\://www.ncbi.nlm.nih.gov/pubmed/17447113] subset: DO_rare_slim synonym: "FEO" EXACT OMO:0003012 [] synonym: "hereditary expansile polyostotic osteolytic dysplasia" EXACT [] synonym: "McCabe disease" EXACT [] xref: GARD:9168 xref: MESH:C536335 xref: MIM:174810 xref: ORDO:85195 xref: SNOMEDCT_US_2023_03_01:254153009 xref: UMLS_CUI:C0432292 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080005 ! bone remodeling disease [Term] id: DOID:0111543 name: juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome def: "A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15031030, url:https\://www.ncbi.nlm.nih.gov/pubmed/20101697] synonym: "JP-HHT" EXACT OMO:0003012 [] xref: MIM:175050 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111544 name: Guttmacher syndrome def: "A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11968094, url:https\://www.ncbi.nlm.nih.gov/pubmed/8484413] subset: DO_rare_slim synonym: "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias" EXACT [] synonym: "preaxial deficiency-postaxial polydactyly-hypospadias syndrome" EXACT [] xref: GARD:4470 xref: MESH:C538278 xref: MIM:176305 xref: ORDO:2957 xref: SNOMEDCT_US_2023_03_01:722452004 xref: UMLS_CUI:C1867801 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111545 name: familial male-limited precocious puberty def: "An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the LHCGR gene on chromosome 2p16.3." [url:https\://ghr.nlm.nih.gov/condition/familial-male-limited-precocious-puberty, url:https\://www.ncbi.nlm.nih.gov/pubmed/7692306] subset: DO_rare_slim synonym: "familial gonadotropin-independent male-limited sexual precocity" EXACT [] synonym: "FMPP" EXACT OMO:0003012 [] synonym: "male-limited precocious puberty" EXACT [] synonym: "testotoxicosis" EXACT [] xref: GARD:4475 xref: MESH:C536961 xref: MESH:D011629 xref: MIM:176410 xref: ORDO:3000 xref: SNOMEDCT_US_2023_03_01:237818003 xref: UMLS_CUI:C0342549 xref: UMLS_CUI:C1504412 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:28 ! endocrine system disease [Term] id: DOID:0111546 name: Currarino syndrome def: "A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6789651, url:https\://www.ncbi.nlm.nih.gov/pubmed/9843207] subset: DO_rare_slim synonym: "Currarino triad" EXACT [] xref: GARD:1626 xref: MESH:C536221 xref: MIM:176450 xref: ORDO:1552 xref: SNOMEDCT_US_2023_03_01:413936007 xref: UMLS_CUI:C1531773 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111547 name: retinal arterial tortuosity def: "An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12745002, url:https\://www.ncbi.nlm.nih.gov/pubmed/25228067] subset: DO_rare_slim synonym: "RATOR" EXACT OMO:0003012 [] synonym: "retinal arteriolar tortuosity" EXACT [] synonym: "retinal hemorrhage with vascular tortuosity" EXACT [] synonym: "tortuosity of retinal arteries" EXACT [] xref: MIM:180000 xref: ORDO:75326 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050828 ! artery disease [Term] id: DOID:0111548 name: ring dermoid of cornea def: "A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15591271, url:https\://www.ncbi.nlm.nih.gov/pubmed/7387508] subset: DO_rare_slim synonym: "RDC" EXACT OMO:0003012 [] synonym: "ring dermoid syndrome" EXACT [] xref: GARD:9696 xref: MESH:C535684 xref: MIM:180550 xref: ORDO:91481 xref: SNOMEDCT_US_2023_03_01:723499000 xref: UMLS_CUI:C1867155 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10124 ! corneal disease [Term] id: DOID:0111549 name: aplasia of lacrimal and salivary glands def: "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15654336] subset: DO_rare_slim synonym: "ALSG" EXACT OMO:0003012 [] synonym: "congenital absence of lacrimal puncta and salivary glands" EXACT [] xref: ICD9CM:750.21 xref: MESH:C562407 xref: MIM:180920 xref: ORDO:86815 xref: SNOMEDCT_US_2023_03_01:715656004 xref: UMLS_CUI:C0158667 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111550 name: scalp-ear-nipple syndrome def: "An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.2." [url:https\://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/23541344] subset: DO_rare_slim synonym: "Finlay-Marks syndrome" EXACT [] synonym: "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples" EXACT [] synonym: "Sen Syndrome" EXACT [] synonym: "SENS" EXACT OMO:0003012 [] xref: GARD:159 xref: MESH:C536623 xref: MIM:181270 xref: ORDO:2036 xref: SNOMEDCT_US_2023_03_01:721888002 xref: UMLS_CUI:C1867020 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111551 name: neurogenic scapuloperoneal syndrome Kaeser type def: "A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17439987] subset: DO_rare_slim synonym: "Kaeser syndrome" EXACT [] synonym: "scapuloperoneal syndrome type Kaeser" EXACT [] synonym: "scapuloperoneal syndrome, neurogenic, Kaeser type" EXACT [] synonym: "Stark-Kaeser syndrome" EXACT [] xref: GARD:10312 xref: MESH:C566695 xref: MIM:181400 xref: ORDO:85146 xref: SNOMEDCT_US_2023_03_01:1208615009 xref: UMLS_CUI:C1867005 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:423 ! myopathy [Term] id: DOID:0111552 name: scapuloperoneal spinal muscular atrophy def: "A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1520078, url:https\://www.ncbi.nlm.nih.gov/pubmed/20037587] subset: DO_rare_slim synonym: "neurogenic scapuloperoneal amyotrophy, New England type" EXACT [] synonym: "scapuloperoneal neuronopathy" EXACT [] synonym: "SPSMA" EXACT OMO:0003012 [] xref: GARD:10314 xref: ICD10CM:G12.1 xref: MESH:D009134 xref: MIM:181405 xref: ORDO:431255 xref: SNOMEDCT_US_2023_03_01:230248006 xref: UMLS_CUI:C0751335 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:231 ! motor neuron disease [Term] id: DOID:0111553 name: spondyloepiphyseal dysplasia Maroteaux type def: "An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20503319, url:https\://www.ncbi.nlm.nih.gov/pubmed/2229114] subset: DO_rare_slim synonym: "Brachyolmia Type 2" EXACT [] synonym: "Pseudo-Morquio syndrome type 2" EXACT [] synonym: "SED, Maroteaux type" EXACT [] synonym: "spondyloepiphyseal dysplasia of Maroteaux" EXACT [] xref: GARD:994 xref: MIM:184095 xref: ORDO:263482 xref: SNOMEDCT_US_2023_03_01:719204007 xref: UMLS_CUI:C3159322 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia [Term] id: DOID:0111554 name: spondylometaphyseal dysplasia Kozlowski type def: "A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19232556] subset: DO_rare_slim synonym: "dysmorphism arthrogryposis skeletal maturation advanced" EXACT [] synonym: "Jequier Kozlowski skeletal dysplasia" EXACT [] synonym: "Jequier-Kozlowski syndrome" EXACT [] synonym: "skeletal dysplasia Jequier-Kozlowski type" EXACT [] synonym: "SMD Kozlowski type" EXACT [] xref: GARD:3047 xref: MESH:C535797 xref: MIM:184252 xref: ORDO:93314 xref: SNOMEDCT_US_2023_03_01:254077000 xref: UMLS_CUI:C0265280 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia [Term] id: DOID:0111555 name: Alkuraya-Kucinskas syndrome def: "A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25558065, url:https\://www.ncbi.nlm.nih.gov/pubmed/29290337] synonym: "ALKKUCS" EXACT OMO:0003012 [] xref: MIM:617822 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111556 name: steatocystoma multiplex def: "A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the KRT17 gene on chromosome 17q21.2." [url:https\://ghr.nlm.nih.gov/condition/steatocystoma-multiplex, url:https\://www.ncbi.nlm.nih.gov/pubmed/18098741, url:https\://www.ncbi.nlm.nih.gov/pubmed/9008238] subset: DO_rare_slim synonym: "multiple sebaceous cysts" EXACT [] synonym: "sebocystomatosis" EXACT [] xref: GARD:5003 xref: MESH:D062685 xref: MIM:184500 xref: ORDO:841 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9098 ! sebaceous gland disease [Term] id: DOID:0111557 name: Charcot-Marie-Tooth disease type 2A2B def: "A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21715711] subset: DO_rare_slim synonym: "AR-CMT2, Ouvrier type" EXACT [] synonym: "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2A2B" EXACT [] synonym: "CMT2A2B" EXACT OMO:0003012 [] synonym: "SEOAN due to MFN2 deficiency" EXACT [] synonym: "severe early-onset axonal neuropathy due to MFN2 deficiency" EXACT [] xref: MIM:617087 xref: ORDO:90118 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111558 name: Charcot-Marie-Tooth disease type 2DD def: "A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29499166] subset: DO_rare_slim synonym: "ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2" EXACT [] synonym: "ATP1A1-related CMT2" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2DD" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2DD" EXACT [] synonym: "CMT2DD" EXACT OMO:0003012 [] xref: MIM:618036 xref: ORDO:521414 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111559 name: Charcot-Marie-Tooth disease type 2EE def: "A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26437932, url:https\://www.ncbi.nlm.nih.gov/pubmed/30298599] synonym: "Charcot-Marie-Tooth disease, axonal, type 2EE" EXACT [] synonym: "CMT2EE" EXACT OMO:0003012 [] xref: MIM:618400 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111560 name: Charcot-Marie-Tooth disease type 1G def: "A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26828946, url:https\://www.ncbi.nlm.nih.gov/pubmed/27009151] subset: DO_rare_slim synonym: "CMT1G" EXACT OMO:0003012 [] synonym: "PMP2-related Charcot-Marie-Tooth disease type 1" EXACT [] synonym: "PMP2-related Charcot-Marie-Tooth neuropathy type 1" EXACT [] synonym: "PMP2-related CMT1" EXACT [] synonym: "PMP2-related hereditary motor and sensory neuropathy type 1" EXACT [] xref: MIM:618279 xref: ORDO:476394 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111561 name: stiff skin syndrome def: "A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20375004] subset: DO_rare_slim subset: NCIthesaurus synonym: "SSKS" EXACT OMO:0003012 [] xref: GARD:5025 xref: MESH:C566112 xref: MIM:184900 xref: NCI:C118636 xref: ORDO:2833 xref: SNOMEDCT_US_2023_03_01:765187004 xref: UMLS_CUI:C1861456 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:37 ! skin disease [Term] id: DOID:0111562 name: overhydrated hereditary stomatocytosis def: "A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18931342, url:https\://www.ncbi.nlm.nih.gov/pubmed/21849667] subset: DO_rare_slim synonym: "OHS" EXACT OMO:0003012 [] synonym: "potassium sodium disorder of erythrocyte" EXACT [] synonym: "stomatocytosisIOHST" EXACT [] xref: GARD:4183 xref: MIM:185000 xref: ORDO:3203 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2361 ! macrocytic anemia [Term] id: DOID:0111563 name: Sturge-Weber syndrome def: "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2." [url:https\://ghr.nlm.nih.gov/condition/sturge-weber-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15165630, url:https\://www.ncbi.nlm.nih.gov/pubmed/23656586] subset: DO_rare_slim subset: NCIthesaurus synonym: "encephalofacial angiomatosis" EXACT [] synonym: "encephalotrigeminal angiomatosis" EXACT [] synonym: "fourth phacomatosis" EXACT [] synonym: "leptomeningeal angiomatosis" EXACT [] synonym: "meningeal capillary angiomatosis" EXACT [] synonym: "Sturge-Weber-Dimitri syndrome" EXACT [] synonym: "Sturge-Weber-Krabbe angiomatosis" EXACT [] synonym: "Sturge-Weber-Krabbe syndrome" EXACT [] synonym: "SWS" EXACT OMO:0003012 [] xref: GARD:7706 xref: ICD10CM:Q85.89 xref: MESH:D013341 xref: MIM:185300 xref: NCI:C3391 xref: ORDO:3205 xref: SNOMEDCT_US_2023_03_01:157030004 xref: UMLS_CUI:C0038505 is_a: DOID:178 ! vascular disease [Term] id: DOID:0111564 name: hypoplastic or aplastic tibia with polydactyly def: "A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19847792] subset: DO_rare_slim synonym: "absence of tibia with polydactyly" EXACT [] synonym: "absent tibia-polydactyly syndrome" EXACT [] synonym: "hypoplastic tibiae-postaxial polydactyly syndrome" EXACT [] synonym: "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome" EXACT [] synonym: "Werner mesomelic syndrome" EXACT [] xref: GARD:8309 xref: MESH:C535564 xref: MIM:188740 xref: ORDO:3332 xref: ORDO:988 xref: UMLS_CUI:C1861099 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111565 name: trichodontoosseous syndrome def: "A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the DLX3 gene on chromosome 17q21.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22671030] subset: DO_rare_slim synonym: "TDO syndrome" EXACT [] synonym: "tricho-dento-osseous syndrome" EXACT [] xref: GARD:7799 xref: MESH:C536549 xref: MIM:190320 xref: ORDO:3352 xref: SNOMEDCT_US_2023_03_01:38993008 xref: UMLS_CUI:C0265333 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111566 name: familial isolated trichomegaly def: "An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24989505] subset: DO_rare_slim synonym: "long eyelashes" EXACT [] synonym: "TCMGLY" EXACT OMO:0003012 [] xref: MIM:190330 xref: ORDO:411788 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:530 ! eyelid disease [Term] id: DOID:0111567 name: retinal vasculopathy with cerebral leukodystrophy def: "A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17660820] subset: DO_rare_slim synonym: "CRV" EXACT OMO:0003012 [] synonym: "hereditary cerebroretinal vasculopathy" EXACT [] synonym: "retinal vasculopathy and cerebral leukoencephalopathy" EXACT [] synonym: "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" EXACT [] synonym: "retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena" EXACT [] synonym: "RVCL" EXACT OMO:0003012 [] synonym: "RVCL-S" EXACT OMO:0003012 [] xref: GARD:1217 xref: MESH:C566007 xref: MIM:192315 xref: ORDO:247691 xref: SNOMEDCT_US_2023_03_01:783787000 xref: UMLS_CUI:C1860518 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:178 ! vascular disease [Term] id: DOID:0111568 name: congenital vertical talus def: "A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in the HOXD10 gene on chromosome 2q31.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15368082] subset: DO_rare_slim synonym: "congenital convex foot" EXACT [] synonym: "congenital convex pes valgus" EXACT [] synonym: "congenital rocker-bottom foot" EXACT [] synonym: "CVT" EXACT OMO:0003012 [] synonym: "rocker-bottom foot deformity" EXACT [] xref: GARD:5488 xref: MEDDRA:10066242 xref: MESH:D005413 xref: MIM:192950 xref: ORDO:178382 xref: SNOMEDCT_US_2023_03_01:205359003 xref: UMLS_CUI:C0240912 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:65 ! connective tissue disease [Term] id: DOID:0111569 name: autosomal dominant vitreoretinochoroidopathy def: "A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15452077, url:https\://www.ncbi.nlm.nih.gov/pubmed/7065944] subset: DO_rare_slim synonym: "ADVIRC" EXACT OMO:0003012 [] synonym: "vitreoretinochoroidopathy dominant" EXACT [] synonym: "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract" EXACT [] synonym: "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos" EXACT [] synonym: "VRCP autosomal dominant" EXACT [] xref: GARD:5507 xref: MESH:C536352 xref: MIM:193220 xref: ORDO:3086 xref: SNOMEDCT_US_2023_03_01:711162004 xref: UMLS_CUI:C3888099 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:8500 ! hereditary retinal dystrophy [Term] id: DOID:0111570 name: snowflake vitreoretinal degeneration def: "An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18179896, url:https\://www.ncbi.nlm.nih.gov/pubmed/4812083] subset: DO_rare_slim synonym: "SVD" EXACT OMO:0003012 [] synonym: "vitreoretinal degeneration, snowflake type" EXACT [] xref: GARD:9706 xref: MESH:C536677 xref: MIM:193230 xref: ORDO:91496 xref: UMLS_CUI:C1860405 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9799 ! eye degenerative disease [Term] id: DOID:0111571 name: Weyers acrofacial dysostosis def: "An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2." [url:https\://ghr.nlm.nih.gov/condition/weyers-acrofacial-dysostosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/10700184, url:https\://www.ncbi.nlm.nih.gov/pubmed/16404586, url:https\://www.ncbi.nlm.nih.gov/pubmed/9399901] subset: DO_rare_slim synonym: "acrofacial dysostosis, Weyers type" EXACT [] synonym: "Curry-Hall syndrome" EXACT [] synonym: "WAD" EXACT OMO:0003012 [] synonym: "Weyers acrodental dysostosis" EXACT [] xref: GARD:497 xref: MESH:C536695 xref: MIM:193530 xref: ORDO:952 xref: SNOMEDCT_US_2023_03_01:277807007 xref: UMLS_CUI:C0457013 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060379 ! acrofacial dysostosis [Term] id: DOID:0111572 name: familial woolly hair syndrome def: "A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19365138] subset: DO_rare_slim synonym: "familial wooly hair syndrome" EXACT [] synonym: "hereditary woolly hair syndrome" EXACT [] synonym: "hereditary wooly hair syndrome" EXACT [] synonym: "woolly hair" EXACT [] synonym: "wooly hair" EXACT [] xref: GARD:5597 xref: ORDO:170 is_a: DOID:421 ! hair disease [Term] id: DOID:0111573 name: autosomal dominant woolly hair def: "A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in the KRT74 gene on chromosome 12q13.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20346438] synonym: "ADWH" EXACT OMO:0003012 [] xref: MIM:194300 xref: SNOMEDCT_US_2022_07_31:403794008 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111572 ! familial woolly hair syndrome [Term] id: DOID:0111574 name: autosomal recessive woolly hair 3 def: "A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26160856] synonym: "ARWH3" EXACT OMO:0003012 [] xref: MIM:616760 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111572 ! familial woolly hair syndrome [Term] id: DOID:0111575 name: dehydrated hereditary stomatocytosis def: "A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22529292] subset: DO_rare_slim synonym: "hereditary desiccytosis" EXACT [] synonym: "hereditary xerocytosis" EXACT [] xref: GARD:5623 xref: MESH:C536764 xref: ORDO:3202 xref: SNOMEDCT_US_2023_03_01:87994004 xref: UMLS_CUI:C0272051 is_a: DOID:583 ! hemolytic anemia [Term] id: DOID:0111576 name: dehydrated hereditary stomatocytosis 1 def: "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22529292] synonym: "dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema" EXACT [] synonym: "pseudohyperkalemia edinburgh" EXACT [] synonym: "pseudohyperkalemia familial 1, due to red cell leak" EXACT [] synonym: "PSHK1" EXACT OMO:0003012 [] xref: MIM:194380 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111575 ! dehydrated hereditary stomatocytosis [Term] id: DOID:0111577 name: dehydrated hereditary stomatocytosis 2 def: "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26148990] synonym: "desiccytosis Gardos" EXACT [] synonym: "xerocytosis Gardos" EXACT [] xref: MIM:616689 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111575 ! dehydrated hereditary stomatocytosis [Term] id: DOID:0111578 name: Gillespie syndrome def: "A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27108797, url:https\://www.ncbi.nlm.nih.gov/pubmed/27108798] subset: DO_rare_slim synonym: "aniridia, cerebellar ataxia and mental deficiency" EXACT [] synonym: "aniridia-cerebellar ataxia-intellectual disability syndrome" EXACT [] synonym: "GLSP" EXACT OMO:0003012 [] xref: GARD:13 xref: MESH:C536370 xref: MIM:206700 xref: ORDO:1065 xref: SNOMEDCT_US_2023_03_01:253176002 xref: UMLS_CUI:C0431401 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111579 name: asthma, nasal polyps, and aspirin intolerance def: "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15496426, url:https\://www.ncbi.nlm.nih.gov/pubmed/15806396, url:https\://www.ncbi.nlm.nih.gov/pubmed/9393345] synonym: "ASA triad" EXACT [] xref: MESH:C565935 xref: MIM:208550 is_a: DOID:1579 ! respiratory system disease [Term] id: DOID:0111580 name: Behr syndrome def: "A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6747661] subset: DO_rare_slim subset: NCIthesaurus synonym: "Abortive cerebellar ataxia (BEHRS)" EXACT [] synonym: "BEHRS" EXACT OMO:0003012 [] synonym: "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss" EXACT [] synonym: "optic atrophy, infantile hereditary, Behr complicated form of" EXACT [] xref: GARD:849 xref: MESH:C537669 xref: MIM:210000 xref: NCI:C177251 xref: SNOMEDCT_US_2023_03_01:66988006 xref: UMLS_CUI:C0221061 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:863 ! nervous system disease [Term] id: DOID:0111581 name: C syndrome def: "A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17847009] subset: DO_rare_slim synonym: "Opitz C trigonocephaly" EXACT [] synonym: "Opitz trigonocephaly C syndrome" EXACT [] synonym: "Opitz trigonocephaly syndrome" EXACT [] synonym: "OTCS" EXACT OMO:0003012 [] synonym: "trigonocephaly C syndrome" EXACT [] xref: GARD:5978 xref: MESH:C537418 xref: MIM:211750 xref: ORDO:1308 xref: SNOMEDCT_US_2023_03_01:715409005 xref: UMLS_CUI:C0796095 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111582 name: hereditary arterial and articular multiple calcification syndrome def: "A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21288095] subset: DO_rare_slim synonym: "arterial calcification and distal joint calcification" EXACT [] synonym: "arterial calcification due to CD73 deficiency" EXACT [] synonym: "arterial calcification due to deficiency of CD73" EXACT [] synonym: "calcification of joints and arteries" EXACT [] synonym: "CALJA" EXACT OMO:0003012 [] xref: GARD:10762 xref: MIM:211800 xref: ORDO:289601 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111583 name: carboxypeptidase N deficiency def: "A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12560874, url:https\://www.ncbi.nlm.nih.gov/pubmed/7437116] subset: NCIthesaurus synonym: "anaphylotoxin inactivator deficiency" EXACT [] synonym: "deficiency of carboxypeptidase B" EXACT [] xref: MESH:C562876 xref: MIM:212070 xref: NCI:C132196 xref: SNOMEDCT_US_2023_03_01:234627009 xref: UMLS_CUI:C0398782 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2345 ! plasma protein metabolism disease [Term] id: DOID:0111584 name: dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome def: "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12927431, url:https\://www.ncbi.nlm.nih.gov/pubmed/19283854] subset: DO_rare_slim subset: NCIthesaurus synonym: "cardiogenital syndrome" EXACT [] synonym: "cardiomyopathy eith primary testicular failure" EXACT [] synonym: "congestive cardiomyopathy with hypergonadotropic hypogonadism" EXACT [] synonym: "dilated cardiomyopathy with hypergonadotropic hypogonadism" EXACT [] synonym: "dilated cardiomyopathy with premature ovarian failure" EXACT [] synonym: "genital anomaly with cardiomyopathy" EXACT [] synonym: "Malouf syndrome" EXACT [] synonym: "Najjar syndrome" EXACT [] xref: GARD:3373 xref: MESH:C535580 xref: MESH:C535703 xref: MIM:212112 xref: NCI:C174217 xref: ORDO:2229 xref: SNOMEDCT_US_2023_03_01:719451006 xref: UMLS_CUI:C0796031 xref: UMLS_CUI:C0796083 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111585 name: carnitine-acylcarnitine translocase deficiency def: "A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31." [url:https\://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/15363639, url:https\://www.ncbi.nlm.nih.gov/pubmed/9399886] subset: DO_rare_slim subset: NCIthesaurus synonym: "CACT deficiency" EXACT [] synonym: "CACTD" EXACT OMO:0003012 [] xref: GARD:1123 xref: MESH:C562812 xref: MIM:212138 xref: NCI:C133086 xref: ORDO:159 xref: SNOMEDCT_US_2023_03_01:238003000 xref: UMLS_CUI:C0342791 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0111586 name: Martsolf syndrome def: "A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41." [url:https\://ghr.nlm.nih.gov/condition/rab18-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/16532399, url:https\://www.ncbi.nlm.nih.gov/pubmed/677168] subset: DO_rare_slim synonym: "cataract-intellectual disability-hypogonadism syndrome" EXACT [] xref: GARD:3406 xref: MESH:C536028 xref: MIM:212720 xref: ORDO:1387 xref: SNOMEDCT_US_2023_03_01:722380003 xref: UMLS_CUI:C0796037 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111587 name: Gordon Holmes syndrome def: "An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1." [url:https\://ghr.nlm.nih.gov/condition/gordon-holmes-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/23656588, url:https\://www.ncbi.nlm.nih.gov/pubmed/25841028] subset: DO_rare_slim synonym: "CAHH" EXACT OMO:0003012 [] synonym: "cerebellar ataxia-hypogonadism syndrome" EXACT [] synonym: "GDHS" EXACT OMO:0003012 [] synonym: "LHRH deficiency and ataxia" EXACT [] synonym: "luteinizing hormone-releasing hormone deficiency with ataxia" EXACT [] xref: MESH:C565870 xref: MIM:212840 xref: ORDO:1173 xref: SNOMEDCT_US_2023_03_01:230240004 xref: UMLS_CUI:C1859305 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111588 name: Greenberg dysplasia def: "An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12." [url:https\://ghr.nlm.nih.gov/condition/greenberg-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/18382993] subset: DO_rare_slim synonym: "autosomal recessive lethal chondrodystrophy with congenital hydrops" EXACT [] synonym: "GRBGD" EXACT OMO:0003012 [] synonym: "Greenberg skeletal dysplasia" EXACT [] synonym: "HEM dysplasia" EXACT [] synonym: "hydrops, ectopic calcification, moth-eaten skeletal dysplasia" EXACT [] synonym: "hydrops-ectopic calcification-motheaten syndrome" EXACT [] synonym: "Skeletal dysplasia, Greenberg type" EXACT [] xref: GARD:8754 xref: MESH:C535858 xref: MIM:215140 xref: ORDO:1426 xref: SNOMEDCT_US_2023_03_01:389261002 xref: UMLS_CUI:C2931048 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111589 name: COACH syndrome def: "A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19574260] subset: DO_rare_slim synonym: "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis" EXACT [] synonym: "Gentile syndrome" EXACT [] synonym: "Joubert syndrome with congenital hepatic fibrosis" EXACT [] synonym: "Joubert syndrome with hepatic defect" EXACT [] synonym: "JS-H" EXACT OMO:0003012 [] xref: GARD:1410 xref: MESH:C536430 xref: MIM:216360 xref: ORDO:1454 xref: SNOMEDCT_US_2023_03_01:721847002 xref: UMLS_CUI:C1857662 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111590 name: Cohen syndrome def: "A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2." [url:https\://ghr.nlm.nih.gov/condition/cohen-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/12730828, url:https\://www.ncbi.nlm.nih.gov/pubmed/24334764] subset: DO_rare_slim synonym: "COH1" EXACT OMO:0003012 [] synonym: "Hypotonia, obesity, and prominent incisors" EXACT [] synonym: "Pepper syndrome" EXACT [] xref: GARD:6126 xref: MEDDRA:10049066 xref: MESH:C536438 xref: MIM:216550 xref: ORDO:193 xref: SNOMEDCT_US_2023_03_01:56604005 xref: UMLS_CUI:C0265223 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111591 name: congenital heart defects, hamartomas of tongue, and polysyndactyly def: "A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1516223, url:https\://www.ncbi.nlm.nih.gov/pubmed/25427950] subset: DO_rare_slim synonym: "CHDTHP" EXACT OMO:0003012 [] synonym: "heart defect-tongue hamartoma-polysyndactyly syndrome" EXACT [] synonym: "Ostravik-Lindemann-Solberg syndrome" EXACT [] xref: GARD:4166 xref: MESH:C535849 xref: MIM:217085 xref: ORDO:1338 xref: SNOMEDCT_US_2023_03_01:783738002 xref: UMLS_CUI:C2931046 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0111592 name: plasminogen deficiency type I def: "A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26." [url:https\://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/12850227, url:https\://www.ncbi.nlm.nih.gov/pubmed/16849641, url:https\://www.ncbi.nlm.nih.gov/pubmed/9242524] subset: DO_rare_slim synonym: "hypoplasminogenemia" EXACT [] xref: GARD:4380 xref: ICD10CM:E88.02 xref: MESH:C566897 xref: MESH:C580017 xref: MIM:217090 xref: ORDO:722 xref: SNOMEDCT_US_2023_03_01:95840007 xref: SNOMEDCT_US_2023_03_01:95844003 xref: UMLS_CUI:C0398621 xref: UMLS_CUI:C1968804 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111593 name: distal arthrogryposis type 10 def: "A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17103435] subset: DO_rare_slim synonym: "DA10" EXACT OMO:0003012 [] synonym: "plantar flexion contracture" EXACT [] synonym: "short Achilles tendon" EXACT [] synonym: "short tendo calcaneus" EXACT [] xref: MESH:C566069 xref: MIM:187370 xref: ORDO:251515 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111594 name: distal arthrogryposis type 5D def: "A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23261301] subset: DO_rare_slim synonym: "DA5D" EXACT OMO:0003012 [] synonym: "distal arthrogryposis type 5 without ophthalmoparesis" EXACT [] synonym: "distal arthrogryposis type 5 without ophthalmoplegia" EXACT [] xref: MIM:615065 xref: ORDO:329457 xref: SNOMEDCT_US_2021_09_01:773396009 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111595 name: congenital contractural arachnodactyly def: "A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/4552107, url:https\://www.ncbi.nlm.nih.gov/pubmed/9106527, url:https\://www.ncbi.nlm.nih.gov/pubmed/9714438] subset: DO_rare_slim subset: NCIthesaurus synonym: "arachnodactyly, contractural Beals type" EXACT [] synonym: "Beals syndrome" EXACT [] synonym: "Beals-Hecht syndrome" EXACT [] synonym: "CCA" EXACT OMO:0003012 [] synonym: "contractures, multiple with arachnodactyly" EXACT [] synonym: "distal arthrogryposis type 9" EXACT [] synonym: "ear anomalies-contractures-dysplasia of bone with kyphoscoliosis" EXACT [] xref: MESH:C536211 xref: MIM:121050 xref: NCI:C129865 xref: ORDO:115 xref: SNOMEDCT_US_2023_03_01:205821003 xref: UMLS_CUI:C0220668 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder [Term] id: DOID:0111596 name: distal arthrogryposis type 1 def: "A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies." [url:https\://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1, url:https\://www.ncbi.nlm.nih.gov/pubmed/19571066, url:https\://www.ncbi.nlm.nih.gov/pubmed/7039311, url:https\://www.ncbi.nlm.nih.gov/pubmed/8923936] subset: DO_rare_slim synonym: "DA1" EXACT OMO:0003012 [] synonym: "digitotalar dysmorphism" EXACT [] xref: GARD:787 xref: MESH:C565097 xref: MIM:126050 xref: ORDO:1146 xref: SNOMEDCT_US_2021_09_01:715314008 is_a: DOID:0050646 ! distal arthrogryposis [Term] id: DOID:0111597 name: distal arthrogryposis type 1A def: "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12592607] synonym: "DA1A" EXACT OMO:0003012 [] xref: MESH:C535378 xref: MIM:108120 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111596 ! distal arthrogryposis type 1 [Term] id: DOID:0111598 name: distal arthrogryposis type 1B def: "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20045868] synonym: "DA1B" EXACT OMO:0003012 [] xref: MIM:614335 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111596 ! distal arthrogryposis type 1 [Term] id: DOID:0111599 name: distal arthrogryposis type 2B def: "A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19571066, url:https\://www.ncbi.nlm.nih.gov/pubmed/9012416] subset: DO_rare_slim synonym: "DA2B" EXACT OMO:0003012 [] synonym: "Freeman-Sheldon syndrome variant" EXACT [] synonym: "Sheldon-Hall syndrome" EXACT [] xref: MESH:C538400 xref: ORDO:1147 xref: SNOMEDCT_US_2021_09_01:715216008 is_a: DOID:0050646 ! distal arthrogryposis [Term] id: DOID:0111600 name: distal arthrogryposis type 2B1 def: "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12592607] synonym: "DA2B1" EXACT OMO:0003012 [] xref: MIM:601680 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111599 ! distal arthrogryposis type 2B [Term] id: DOID:0111601 name: distal arthrogryposis type 2B2 def: "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12865991] synonym: "DA2B2" EXACT OMO:0003012 [] xref: MIM:618435 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111599 ! distal arthrogryposis type 2B [Term] id: DOID:0111602 name: distal arthrogryposis type 2B3 def: "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16642020] synonym: "DA2B3" EXACT OMO:0003012 [] synonym: "distal arthrogryposis type 2B3 (Sheldon-Hall)" EXACT [] xref: MIM:618436 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111599 ! distal arthrogryposis type 2B [Term] id: DOID:0111603 name: distal arthrogryposis type 7 def: "A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15282353] subset: DO_rare_slim synonym: "DA7" EXACT OMO:0003012 [] synonym: "Dutch-Kentucky syndrome" EXACT [] synonym: "Hecht syndrome" EXACT [] synonym: "Hecht-Beals syndrome" EXACT [] synonym: "mouth, inability to completely open, and short finger-flexor tendons" EXACT [] synonym: "trismus-pseudocamptodactyly syndrome" EXACT [] xref: GARD:2621 xref: MESH:C535857 xref: MIM:121070 xref: MIM:158300 xref: ORDO:3377 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111604 name: Freeman-Sheldon syndrome def: "A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures." [url:https\://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/19571066, url:https\://www.ncbi.nlm.nih.gov/pubmed/21032118] subset: DO_rare_slim subset: NCIthesaurus synonym: "craniocarpotarsal dysplasia" EXACT [] synonym: "craniocarpotarsal dystrophy" EXACT [] synonym: "whistling face syndrome" EXACT [] synonym: "whistling face-windmill vane hand syndrome" EXACT [] xref: ICD10CM:Q87.0 xref: MESH:C535483 xref: MIM:193700 xref: NCI:C98931 xref: ORDO:2053 xref: SNOMEDCT_US_2021_09_01:52616002 is_a: DOID:0050646 ! distal arthrogryposis [Term] id: DOID:0111605 name: distal arthrogryposis type 2A def: "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16642020, url:https\://www.ncbi.nlm.nih.gov/pubmed/19571066] synonym: "DA2A" EXACT OMO:0003012 [] synonym: "distal arthrogryposis type 2A (Freeman-Sheldon)" EXACT [] xref: MIM:193700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111604 ! Freeman-Sheldon syndrome [Term] id: DOID:0111606 name: autosomal recessive Whistling face syndrome def: "A Freeman-Sheldon syndrome that has autosomal recessive inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20964128] subset: DO_rare_slim xref: GARD:100024 xref: MIM:277720 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111604 ! Freeman-Sheldon syndrome [Term] id: DOID:0111607 name: distal arthrogryposis type 3 def: "A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19571066, url:https\://www.ncbi.nlm.nih.gov/pubmed/24726473] subset: DO_rare_slim synonym: "camptodactyly-cleft palate-clubfoot syndrome" EXACT [] synonym: "DA3" EXACT OMO:0003012 [] synonym: "distal arthrogryposis multiplex congenita type IIA" EXACT [] synonym: "Gordon syndrome" EXACT [] xref: GARD:2553 xref: MESH:C537288 xref: MIM:114300 xref: ORDO:376 xref: SNOMEDCT_US_2021_09_01:897570002 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111608 name: distal arthrogryposis type 5 def: "A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19571066, url:https\://www.ncbi.nlm.nih.gov/pubmed/23487782] subset: DO_rare_slim synonym: "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome" EXACT [] synonym: "DA5" EXACT OMO:0003012 [] synonym: "DAIIB" EXACT OMO:0003012 [] synonym: "distal arthrogryposis type IIB" EXACT [] synonym: "distal arthrogryposis with ophthalmoplegia" EXACT [] synonym: "oculomelic amyoplasia" EXACT [] xref: GARD:4047 xref: MESH:C537737 xref: MIM:108145 xref: SNOMEDCT_US_2021_09_01:715217004 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111609 name: distal arthrogryposis type 6 def: "A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19571066, url:https\://www.ncbi.nlm.nih.gov/pubmed/5539065] subset: DO_rare_slim synonym: "arthrogryposis and sensorineural deafness" EXACT [] synonym: "arthrogryposis-like hand anomaly-sensorineural deafness syndrome" EXACT [] synonym: "DA6" EXACT OMO:0003012 [] synonym: "familial hand abnormality and sensori-neural deafness" EXACT [] xref: GARD:784 xref: MESH:C535386 xref: MIM:108200 xref: ORDO:1144 xref: SNOMEDCT_US_2021_09_01:720515009 is_a: DOID:0050646 ! distal arthrogryposis [Term] id: DOID:0111610 name: distal arthrogryposis type 4 def: "A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19571066, url:https\://www.ncbi.nlm.nih.gov/pubmed/7039311] subset: DO_rare_slim synonym: "arthrogryposis-severe scoliosis syndrome" EXACT [] synonym: "DA4" EXACT OMO:0003012 [] synonym: "DAIID" EXACT OMO:0003012 [] synonym: "distal arthrogryposis type IID" EXACT [] xref: MESH:C563791 xref: MIM:609128 xref: ORDO:65720 xref: SNOMEDCT_US_2021_09_01:715575001 is_a: DOID:0050646 ! distal arthrogryposis [Term] id: DOID:0111611 name: autosomal recessive spinocerebellar ataxia 4 def: "An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29604224] subset: DO_rare_slim synonym: "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome" EXACT [] synonym: "SCA24" EXACT OMO:0003012 [] synonym: "SCAR4" EXACT OMO:0003012 [] synonym: "SCASI" EXACT OMO:0003012 [] synonym: "spinocerebellar ataxia 24" EXACT [] synonym: "spinocerebellar ataxia with saccadic intrusions" EXACT [] xref: GARD:4952 xref: MESH:C537310 xref: MIM:607317 xref: ORDO:95434 xref: UMLS_CUI:C1846492 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111612 name: autosomal recessive spinocerebellar ataxia 3 def: "An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11175288, url:https\://www.ncbi.nlm.nih.gov/pubmed/4154794, url:https\://www.ncbi.nlm.nih.gov/pubmed/4434170] subset: DO_rare_slim synonym: "autosomal recessive spinocerebellar ataxia type 3" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome" EXACT [] synonym: "SCABD" EXACT OMO:0003012 [] synonym: "SCAR3" EXACT OMO:0003012 [] xref: GARD:9971 xref: MESH:C537309 xref: MIM:271250 xref: ORDO:95433 xref: SNOMEDCT_US_2023_03_01:1204415006 xref: UMLS_CUI:C1849094 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111613 name: autosomal recessive spinocerebellar ataxia 23 def: "An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24658003] subset: DO_rare_slim synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency" EXACT [] synonym: "SCAR23" EXACT OMO:0003012 [] xref: MIM:616949 xref: ORDO:404493 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111614 name: autosomal recessive spinocerebellar ataxia 22 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26157035] synonym: "SCAR22" EXACT OMO:0003012 [] xref: MIM:616948 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111615 name: autosomal recessive spinocerebellar ataxia 24 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26872069] synonym: "SCAR24" EXACT OMO:0003012 [] xref: MIM:617133 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111616 name: autosomal recessive spinocerebellar ataxia 27 def: "An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30084953] synonym: "SCAR27" EXACT OMO:0003012 [] xref: MIM:618369 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111617 name: autosomal recessive spinocerebellar ataxia 6 def: "An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12811539, url:https\://www.ncbi.nlm.nih.gov/pubmed/4003033] subset: DO_rare_slim synonym: "autosomal recessive spinocerebellar ataxia type 6" EXACT [] synonym: "infantile-onset autosomal recessive nonprogressive cerebellar ataxia" EXACT [] synonym: "SCAR6" EXACT OMO:0003012 [] xref: GARD:4954 xref: MESH:C537312 xref: MIM:608029 xref: ORDO:284332 xref: SNOMEDCT_US_2023_03_01:785300001 xref: UMLS_CUI:C1842676 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111618 name: autosomal recessive spinocerebellar ataxia 8 def: "An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17159980, url:https\://www.ncbi.nlm.nih.gov/pubmed/27086870] subset: DO_rare_slim synonym: "ARCA1" EXACT OMO:0003012 [] synonym: "autosomal recessive ataxia, Beauce type" EXACT [] synonym: "Autosomal recessive cerebellar ataxia type 1" EXACT [] synonym: "recessive ataxia of Beauce" EXACT [] synonym: "SCAR8" EXACT OMO:0003012 [] synonym: "SYNE1-related autosomal recessive cerebellar ataxia" EXACT [] xref: GARD:12234 xref: MESH:C565188 xref: MIM:610743 xref: ORDO:88644 xref: UMLS_CUI:C1853116 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111619 name: combined D-2- and L-2-hydroxyglutaric aciduria def: "A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21." [url:https\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria, url:https\://www.ncbi.nlm.nih.gov/pubmed/10963100, url:https\://www.ncbi.nlm.nih.gov/pubmed/23561848] subset: DO_rare_slim synonym: "combined D,L-2-hydroxyglutaric aciduria" EXACT [] synonym: "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia" EXACT [] synonym: "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria" EXACT [] synonym: "D,L-2-HGA" EXACT [] synonym: "D,L-2-hydroxyglutaric acidemia" EXACT [] synonym: "D,L-2-hydroxyglutaric aciduria" EXACT [] xref: MIM:615182 xref: ORDO:356978 xref: SNOMEDCT_US_2023_03_01:713401006 xref: UMLS_CUI:C5574940 is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111620 name: corneal dystrophy-perceptive deafness syndrome def: "A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17220209, url:https\://www.ncbi.nlm.nih.gov/pubmed/5312820] subset: DO_rare_slim synonym: "CDPD" EXACT OMO:0003012 [] synonym: "CDPD1" EXACT OMO:0003012 [] synonym: "corneal dystrophy and perceptive deafness" EXACT [] synonym: "corneal dystrophy with progressive deafness" EXACT [] synonym: "corneal endothelial dystrophy and perceptive deafness" EXACT [] synonym: "Harboyan syndrome" EXACT [] xref: GARD:1529 xref: MESH:C535473 xref: MIM:217400 xref: ORDO:1490 xref: SNOMEDCT_US_2023_03_01:720749004 xref: UMLS_CUI:C1857572 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111621 name: Temtamy syndrome def: "A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23453666] subset: DO_rare_slim subset: NCIthesaurus synonym: "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation" EXACT [] synonym: "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome" EXACT [] synonym: "dysmorphism, corpus callosum agenesis and colobomas" EXACT [] synonym: "Temtamy-Shalash syndrome" EXACT [] xref: GARD:5688 xref: MESH:C536959 xref: MIM:218340 xref: NCI:C148371 xref: ORDO:1777 xref: SNOMEDCT_US_2023_03_01:719947004 xref: UMLS_CUI:C1857512 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111622 name: ACTH-independent macronodular adrenal hyperplasia def: "A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol." [url:https\://ghr.nlm.nih.gov/condition/primary-macronodular-adrenal-hyperplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/16215323] subset: DO_rare_slim synonym: "ACTH-independent macronodular adrenocortical hyperplasia" EXACT [] synonym: "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia" EXACT [] synonym: "AIMAH" EXACT OMO:0003012 [] synonym: "corticotropin-independent macronodular adrenal hyperplasia" EXACT [] synonym: "Cushing syndrome due to macronodular adrenal hyperplasia" EXACT [] synonym: "massive macronodular adrenocortical disease" EXACT [] synonym: "MMAD" EXACT OMO:0003012 [] synonym: "primary macronodular adrenal hyperplasia" EXACT [] xref: GARD:10824 xref: ORDO:189427 xref: SNOMEDCT_US_2023_03_01:720459002 xref: UMLS_CUI:C2062388 is_a: DOID:446 ! primary hyperaldosteronism [Term] id: DOID:0111623 name: ACTH-independent macronodular adrenal hyperplasia 1 def: "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12727968] synonym: "AIMAH1" EXACT OMO:0003012 [] xref: MIM:219080 is_a: DOID:0111622 ! ACTH-independent macronodular adrenal hyperplasia [Term] id: DOID:0111624 name: ACTH-independent macronodular adrenal hyperplasia 2 def: "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24283224] synonym: "AIMAH2" EXACT OMO:0003012 [] xref: MIM:615954 is_a: DOID:0111622 ! ACTH-independent macronodular adrenal hyperplasia [Term] id: DOID:0111625 name: ventriculomegaly - cystic kidney disease def: "A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2478019, url:https\://www.ncbi.nlm.nih.gov/pubmed/25557780] subset: DO_rare_slim synonym: "congenital nephrosis-cerebral ventriculomegaly syndrome" EXACT [] synonym: "cystic kidney disease with ventriculomegaly" EXACT [] synonym: "ventriculomegaly with cystic kidney disease" EXACT [] synonym: "VMCKD" EXACT OMO:0003012 [] xref: MESH:C565657 xref: MIM:219730 xref: ORDO:443988 xref: SNOMEDCT_US_2023_03_01:1216942009 xref: UMLS_CUI:C1857423 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111626 name: D-glyceric aciduria def: "An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20949620] subset: DO_rare_slim synonym: "D-glycerate kinase deficiency" EXACT [] synonym: "D-glyceric acidemia" EXACT [] synonym: "D-glycericacidemia" EXACT [] synonym: "deficiency of glycerate kinase" EXACT [] synonym: "non ketotic hyperglycinemia syndrome" EXACT [] xref: GARD:234 xref: ICD10CM:E72.59 xref: MESH:C535767 xref: MIM:220120 xref: ORDO:941 xref: UMLS_CUI:C1291386 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111627 name: DOORS syndrome def: "A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3." [url:https\://ghr.nlm.nih.gov/condition/doors-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/1132883, url:https\://www.ncbi.nlm.nih.gov/pubmed/24291220] subset: DO_rare_slim synonym: "autosomal recessive deafness-onychodystrophy syndrome" EXACT [] synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome" EXACT [] synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome" EXACT [] synonym: "deafness-onychoosteodystrophy-intellectual disability syndrome" EXACT [] synonym: "DOOR syndrome" EXACT [] synonym: "DOORS" EXACT OMO:0003012 [] xref: GARD:1685 xref: MESH:C538204 xref: MIM:220500 xref: ORDO:79500 xref: UMLS_CUI:C0795927 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111628 name: high myopia-sensorineural deafness syndrome def: "A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1." [url:https\://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/23543054] subset: DO_rare_slim synonym: "deafness and myopia" EXACT [] synonym: "deafness and myopia syndrome" EXACT [] synonym: "DFNMYP" EXACT OMO:0003012 [] xref: GARD:12844 xref: MIM:221200 xref: ORDO:363396 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111629 name: dihydropyrimidinase deficiency def: "A pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3." [url:https\://ghr.nlm.nih.gov/condition/dihydropyrimidinase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/29054612] subset: DO_rare_slim synonym: "dihydropyrimidinuria" EXACT [] synonym: "DPH deficiency" EXACT [] synonym: "DPYS deficiency" EXACT [] synonym: "DPYSD" EXACT OMO:0003012 [] xref: GARD:12347 xref: MESH:C562815 xref: MIM:222748 xref: ORDO:38874 xref: SNOMEDCT_US_2023_03_01:238014002 xref: UMLS_CUI:C0342803 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050832 ! pyrimidine metabolic disorder [Term] id: DOID:0111630 name: familial erythrocytosis 8 def: "A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2542247] subset: DO_rare_slim synonym: "bisphosphoglycerate mutase deficiency" EXACT [] synonym: "bisphosphoglyceromutase deficiency" EXACT [] synonym: "BPGM deficiency" EXACT [] synonym: "diphosphoglycerate mutase deficiency of erythrocyte" EXACT [] synonym: "DPGM deficiency" EXACT [] synonym: "ECYT8" EXACT OMO:0003012 [] synonym: "hemolytic anemia due to diphosphoglycerate mutase deficiency" EXACT [] xref: MIM:222800 xref: ORDO:714 is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0111631 name: familial erythrocytosis 7 def: "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10676771, url:https\://www.ncbi.nlm.nih.gov/pubmed/5913291] synonym: "alpha-globin type erythrocytosis" EXACT [] synonym: "alpha-globin type polycythemia" EXACT [] synonym: "ECYT7" EXACT OMO:0003012 [] xref: MIM:617981 is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0111632 name: familial erythrocytosis 6 def: "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10676771, url:https\://www.ncbi.nlm.nih.gov/pubmed/17795074] synonym: "beta-globin type erythrocytosis" EXACT [] synonym: "beta-globin type polycythemia" EXACT [] synonym: "ECYT6" EXACT OMO:0003012 [] xref: MIM:617980 is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0111633 name: congenital sucrase-isomaltase deficiency def: "A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1." [url:https\://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/3925457] subset: DO_rare_slim subset: NCIthesaurus synonym: "congenital sucrase-isomaltose malabsorption" EXACT [] synonym: "congenital sucrose intolerance" EXACT [] synonym: "CSID" EXACT OMO:0003012 [] synonym: "disaccharide intolerance" EXACT [] synonym: "SI deficiency" EXACT [] xref: GARD:7710 xref: ICD10CM:E74.31 xref: MEDDRA:10066387 xref: MESH:C538139 xref: MIM:222900 xref: NCI:C128190 xref: ORDO:35122 xref: SNOMEDCT_US_2023_03_01:78373000 xref: UMLS_CUI:C1283620 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:0111634 name: autosomal recessive nonsyndromic deafness 99 def: "An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12673573] synonym: "autosomal recessive deafness 99" EXACT [] synonym: "DFNB99" EXACT OMO:0003012 [] xref: MIM:618481 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111635 name: autosomal recessive nonsyndromic deafness 57 def: "An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29048736] synonym: "autosomal recessive deafness 57" EXACT [] synonym: "DFNB57" EXACT OMO:0003012 [] xref: MIM:618003 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111636 name: autosomal recessive nonsyndromic deafness 113 def: "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29703829] synonym: "autosomal recessive deafness 113" EXACT [] synonym: "DFNB113" EXACT OMO:0003012 [] xref: MIM:618410 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111637 name: autosomal recessive nonsyndromic deafness 112 def: "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24312468] synonym: "autosomal recessive deafness 112" EXACT [] synonym: "DFNB112" EXACT OMO:0003012 [] xref: MIM:618257 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111638 name: autosomal recessive nonsyndromic deafness 100 def: "An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29590114] synonym: "autosomal recessive deafness 100" EXACT [] synonym: "DFNB100" EXACT OMO:0003012 [] xref: MIM:618422 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111639 name: autosomal recessive nonsyndromic deafness 109 def: "An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29107558] synonym: "autosomal recessive deafness 109" EXACT [] synonym: "DFNB109" EXACT OMO:0003012 [] xref: MIM:618013 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111640 name: autosomal recessive nonsyndromic deafness 111 def: "An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29961571, url:https\://www.ncbi.nlm.nih.gov/pubmed/29982980] synonym: "autosomal recessive deafness 111" EXACT [] synonym: "DFNB111" EXACT OMO:0003012 [] xref: MIM:618145 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111641 name: autosomal recessive nonsyndromic deafness 94 def: "An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25807530] synonym: "autosomal recessive deafness 94" EXACT [] synonym: "DFNB94" EXACT OMO:0003012 [] xref: MIM:618434 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111642 name: autosomal recessive nonsyndromic deafness 114 def: "An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30610177] synonym: "autosomal recessive deafness 114" EXACT [] synonym: "DFNB114" EXACT OMO:0003012 [] xref: MIM:618456 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111643 name: autosomal recessive nonsyndromic deafness 115 def: "An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30973865] synonym: "autosomal recessive deafness 115" EXACT [] synonym: "DFNB115" EXACT OMO:0003012 [] xref: MIM:618457 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111644 name: autosomal recessive nonsyndromic deafness 110 def: "An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29449721] synonym: "autosomal recessive deafness 110" EXACT [] synonym: "DFNB110" EXACT OMO:0003012 [] xref: MIM:618094 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111645 name: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome def: "An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31257402] subset: DO_rare_slim synonym: "EPRPDC" EXACT OMO:0003012 [] synonym: "RE-PED-WC" EXACT OMO:0003012 [] synonym: "Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp" EXACT [] synonym: "Rolandic-type focal motor epilepsy and exercise-induced dystonia" EXACT [] xref: MIM:608105 xref: ORDO:163727 is_a: DOID:0050703 ! infancy electroclinical syndrome is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111646 name: congenital lactase deficiency def: "A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3." [url:https\://ghr.nlm.nih.gov/condition/lactose-intolerance, url:https\://www.ncbi.nlm.nih.gov/pubmed/16400612, url:https\://www.ncbi.nlm.nih.gov/pubmed/5419986] subset: DO_rare_slim synonym: "CLD" EXACT OMO:0003012 [] synonym: "congenital alactasia" EXACT [] synonym: "congenital alactasia syndrome" EXACT [] synonym: "congenital lactose intolerance" EXACT [] synonym: "congenital lactose malabsorption" EXACT [] synonym: "disaccharide intolerance II" EXACT [] xref: ICD10CM:E73.0 xref: MESH:C562600 xref: MIM:223000 xref: ORDO:53690 xref: SNOMEDCT_US_2023_03_01:5388008 xref: UMLS_CUI:C0268179 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:0111647 name: Schopf-Schulz-Passarge syndrome def: "An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19559398, url:https\://www.ncbi.nlm.nih.gov/pubmed/2947556] subset: DO_rare_slim synonym: "eccrine tumors-ectodermal dysplasia" EXACT [] synonym: "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [] synonym: "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [] synonym: "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [] synonym: "SSPS" EXACT OMO:0003012 [] xref: MESH:C565607 xref: MIM:224750 xref: ORDO:50944 xref: SNOMEDCT_US_2023_03_01:700062000 xref: UMLS_CUI:C1857069 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111648 name: ectopia lentis with ectopia of pupil def: "An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20702823, url:https\://www.ncbi.nlm.nih.gov/pubmed/7696232] synonym: "ectopia lentis et pupillae" EXACT [] xref: MESH:C563268 xref: MIM:225200 xref: SNOMEDCT_US_2023_03_01:419237004 xref: UMLS_CUI:C1644196 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5614 ! eye disease [Term] id: DOID:0111649 name: ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome def: "An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15805154, url:https\://www.ncbi.nlm.nih.gov/pubmed/6302256] subset: DO_rare_slim synonym: "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome" EXACT [] synonym: "EEM syndrome" EXACT [] synonym: "EEMS" EXACT OMO:0003012 [] xref: GARD:2078 xref: MIM:225280 xref: ORDO:1897 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111650 name: ectodermal dysplasia 13 def: "An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27049303] synonym: "ECTD13" EXACT OMO:0003012 [] synonym: "ectodermal dysplasia 13, hair/tooth type" EXACT [] xref: MIM:617392 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111651 name: ectodermal dysplasia 15 def: "An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30425301] synonym: "ECTD15" EXACT OMO:0003012 [] synonym: "ectodermal dysplasia 15, hypohidrotic/hair type" EXACT [] xref: MIM:618535 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111652 name: ectodermal dysplasia 12 def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27838789] synonym: "ECTD12" EXACT OMO:0003012 [] synonym: "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type" EXACT [] xref: MIM:617337 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111653 name: ectodermal dysplasia 11A def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17354266] synonym: "ECTD11A" EXACT OMO:0003012 [] synonym: "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant" EXACT [] xref: MIM:614940 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111654 name: ectodermal dysplasia 11B def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11780064] synonym: "ECTD11B" EXACT OMO:0003012 [] synonym: "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive" EXACT [] xref: MIM:614941 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111655 name: pure hair and nail ectodermal dysplasia def: "An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23063621] subset: DO_rare_slim xref: MESH:C566592 xref: ORDO:69084 xref: UMLS_CUI:C1865951 is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111656 name: ectodermal dysplasia 9 def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23063621] synonym: "ECTD9" EXACT OMO:0003012 [] synonym: "ectodermal dysplasia 9, hair/nail type" EXACT [] xref: MIM:614931 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia [Term] id: DOID:0111657 name: ectodermal dysplasia 5 def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15675952] synonym: "ECTD5" EXACT OMO:0003012 [] synonym: "ectodermal dysplasia 5, hair/nail type" EXACT [] xref: MIM:614927 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia [Term] id: DOID:0111658 name: ectodermal dysplasia 4 def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT85 gene on chromosome 12q13.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16525032] synonym: "ECTD4" EXACT OMO:0003012 [] synonym: "ectodermal dysplasia 4, hair/nail type" EXACT [] xref: MIM:602032 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia [Term] id: DOID:0111659 name: ectodermal dysplasia 6 def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17107387] synonym: "ECTD6" EXACT OMO:0003012 [] synonym: "ectodermal dysplasia 6, hair/nail type" EXACT [] xref: MIM:614928 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia [Term] id: DOID:0111660 name: ectodermal dysplasia 7 def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24714551] synonym: "ECTD7" EXACT OMO:0003012 [] synonym: "ectodermal dysplasia 7, hair/nail type" EXACT [] xref: MIM:614929 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia [Term] id: DOID:0111661 name: ectodermal dysplasia 8 def: "An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18184143, url:https\://www.ncbi.nlm.nih.gov/pubmed/856958] subset: DO_rare_slim synonym: "ECTD8" EXACT OMO:0003012 [] synonym: "ectodermal dysplasia 8, hair/tooth/nail type" EXACT [] synonym: "Fried's tooth and nail syndrome" EXACT [] xref: MIM:602401 xref: ORDO:99672 xref: SNOMEDCT_US_2023_03_01:239020008 xref: UMLS_CUI:C0406715 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111662 name: ectodermal dysplasia 14 def: "An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27736875] synonym: "ECTN14" EXACT OMO:0003012 [] synonym: "ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis" EXACT [] xref: MIM:618180 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111663 name: ectodermal dysplasia 10A def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10431241] synonym: "ECTD10A" EXACT OMO:0003012 [] synonym: "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant" EXACT [] xref: MIM:129490 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111664 name: ectodermal dysplasia 1 def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8434608] subset: DO_rare_slim subset: NCIthesaurus synonym: "Christ-Siemens-Touraine syndrome" EXACT [] synonym: "CST syndrome" EXACT [] synonym: "ectodermal dysplasia 1, anhidrotic" EXACT [] synonym: "ectodermal dysplasia 1, hypohidrotic, X-linked" EXACT [] synonym: "ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked" EXACT [] synonym: "ED1" EXACT OMO:0003012 [] synonym: "HED1" EXACT OMO:0003012 [] synonym: "hypohidrotic ectodermal dysplasia, X-Linked" EXACT [] synonym: "X-linked anhidrotic ectodermal dysplasia" EXACT [] synonym: "XHED" EXACT OMO:0003012 [] synonym: "XLHED" EXACT OMO:0003012 [] xref: MESH:D053358 xref: MIM:305100 xref: NCI:C84562 xref: ORDO:181 xref: SNOMEDCT_US_2023_03_01:239007005 xref: UMLS_CUI:C0162359 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111665 name: ectodermal dysplasia 10B def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10431241] synonym: "ECTD10B" EXACT OMO:0003012 [] synonym: "ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive" EXACT [] xref: MIM:224900 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111666 name: proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome def: "A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20206334] subset: DO_rare_slim synonym: "cerebral proliferative glomeruloid vasculopathy" EXACT [] synonym: "encephaloclastic proliferative vasculopathy" EXACT [] synonym: "EPV" EXACT OMO:0003012 [] synonym: "Fowler syndrome" EXACT [] synonym: "Fowler vasculopathy" EXACT [] synonym: "hydranencephaly, Fowler type" EXACT [] synonym: "hydrocephaly/hydranencephaly due to cerebral vasculopathy" EXACT [] synonym: "proliferative vasculopathy and hydranencephaly/hydrocephaly" EXACT [] synonym: "PVHH" EXACT OMO:0003012 [] xref: MEDDRA:10071718 xref: MESH:C565593 xref: MIM:225790 xref: ORDO:221126 xref: UMLS_CUI:C1856972 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111667 name: enterokinase deficiency def: "An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11719902] subset: DO_rare_slim synonym: "congenital enterokinase deficiency" EXACT [] synonym: "congenital enteropathy due to enteropeptidase deficiency" EXACT [] synonym: "deficiency of enteropeptidase" EXACT [] xref: MESH:C562649 xref: MIM:226200 xref: ORDO:168601 xref: SNOMEDCT_US_2023_03_01:190952002 xref: UMLS_CUI:C0268416 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5295 ! intestinal disease [Term] id: DOID:0111668 name: Kohlschutter-Tonz syndrome def: "A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22424600, url:https\://www.ncbi.nlm.nih.gov/pubmed/22482807] subset: DO_rare_slim synonym: "amelocerebrohypohidrotic syndrome" EXACT [] synonym: "epilepsy and yellow teeth" EXACT [] synonym: "epilepsy dementia amelogenesis imperfecta" EXACT [] synonym: "epilepsy-dementia-amelogenesis imperfecta syndrome" EXACT [] synonym: "Kohlschutter's syndrome" EXACT [] synonym: "KTZS" EXACT OMO:0003012 [] xref: GARD:3128 xref: MESH:C537213 xref: MIM:226750 xref: ORDO:1946 xref: SNOMEDCT_US_2023_03_01:109478007 xref: UMLS_CUI:C0406740 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111669 name: hyaline fibromatosis syndrome def: "A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22383261] subset: DO_rare_slim subset: NCIthesaurus synonym: "HFS" EXACT OMO:0003012 [] synonym: "inherited systemic hyalinosis" EXACT [] synonym: "puretic syndrome" EXACT [] synonym: "systemic hyalinosis" EXACT [] xref: MESH:D057770 xref: MIM:228600 xref: NCI:C98297 xref: ORDO:498474 xref: SNOMEDCT_US_2023_03_01:238861002 xref: UMLS_CUI:C2745948 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:0111670 name: primary hyperoxaluria type 1 def: "A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19479957, url:https\://www.ncbi.nlm.nih.gov/pubmed/2039493] subset: DO_rare_slim subset: NCIthesaurus synonym: "alanine-glyoxylate aminotransferase deficiency" EXACT [] synonym: "glycolic aciduria" EXACT [] synonym: "hepatic AGT deficiency" EXACT [] synonym: "HP1" EXACT OMO:0003012 [] synonym: "oxalosis I" EXACT [] synonym: "peroxisomal alanine-glyoxylate aminotransferase deficiency" EXACT [] synonym: "serine pyruvate aminotransferase deficiency" EXACT [] xref: GARD:2835 xref: MESH:C536414 xref: MIM:259900 xref: NCI:C123212 xref: ORDO:93598 xref: SNOMEDCT_US_2023_03_01:65520001 xref: UMLS_CUI:C0268164 is_a: DOID:2977 ! primary hyperoxaluria [Term] id: DOID:0111671 name: primary hyperoxaluria type 2 def: "A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2." [url:https\://www.ncbi.nlm.nih.gov/books/NBK2692/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10484776] subset: DO_rare_slim subset: NCIthesaurus synonym: "D-glycerate dehydrogenase deficiency" EXACT [] synonym: "glyoxylate reductase/hydroxypyruvate reductase deficiency" EXACT [] synonym: "HP2" EXACT OMO:0003012 [] synonym: "L-glyceric aciduria" EXACT [] synonym: "oxalosis II" EXACT [] xref: GARD:2836 xref: MESH:C536415 xref: MIM:260000 xref: NCI:C123213 xref: ORDO:93599 xref: SNOMEDCT_US_2023_03_01:40951006 xref: UMLS_CUI:C0268165 is_a: DOID:2977 ! primary hyperoxaluria [Term] id: DOID:0111672 name: primary hyperoxaluria type 3 def: "A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2." [url:https\://www.ncbi.nlm.nih.gov/books/NBK316514/, url:https\://www.ncbi.nlm.nih.gov/pubmed/26340091] subset: DO_rare_slim subset: NCIthesaurus synonym: "HP3" EXACT OMO:0003012 [] synonym: "PH III" EXACT OMO:0003012 [] synonym: "primary hyperoxaluria type III" EXACT [] xref: GARD:10738 xref: MIM:613616 xref: NCI:C123214 xref: ORDO:93600 xref: SNOMEDCT_US_2023_03_01:734990008 xref: UMLS_CUI:C3150878 is_a: DOID:2977 ! primary hyperoxaluria [Term] id: DOID:0111673 name: Saul-Wilson syndrome def: "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30290151] subset: DO_rare_slim synonym: "microcephalic osteodysplastic dysplasia, Saul-Wilson type" EXACT [] synonym: "SWILS" EXACT OMO:0003012 [] xref: MIM:618150 xref: ORDO:85172 xref: SNOMEDCT_US_2023_03_01:389197004 xref: UMLS_CUI:C1300285 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080006 ! bone development disease [Term] id: DOID:0111674 name: intellectual developmental disorder with short stature and behavioral abnormalities def: "A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31607425] synonym: "IDDSSBA" EXACT OMO:0003012 [] xref: MIM:618687 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111675 name: neurooculocardiogenitourinary syndrome def: "A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31327510] synonym: "NOCGUS" EXACT OMO:0003012 [] xref: MIM:618652 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111676 name: high molecular weight kininogen deficiency def: "A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12576314, url:https\://www.ncbi.nlm.nih.gov/pubmed/2989293] subset: DO_rare_slim subset: NCIthesaurus synonym: "congenital high-molecular-weight kininogen deficiency" EXACT [] synonym: "Fitzgerald trait" EXACT [] synonym: "HMWK deficiency" EXACT [] xref: GARD:2684 xref: MESH:C537060 xref: MIM:228960 xref: NCI:C98946 xref: ORDO:483 xref: SNOMEDCT_US_2023_03_01:27312002 xref: UMLS_CUI:C0272340 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:0111677 name: familial benign fleck retina def: "A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22137173] subset: DO_rare_slim synonym: "FRFB" EXACT OMO:0003012 [] xref: MESH:C565564 xref: MIM:228980 xref: ORDO:363989 xref: SNOMEDCT_US_2023_03_01:770434009 xref: UMLS_CUI:C1856718 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5679 ! retinal disease [Term] id: DOID:0111678 name: hereditary folate malabsorption def: "A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2." [url:https\://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption, url:https\://www.ncbi.nlm.nih.gov/pubmed/17129779] subset: DO_rare_slim subset: NCIthesaurus synonym: "congenital defect of folate absorption" EXACT [] synonym: "congenital folate malabsorption" EXACT [] xref: GARD:12983 xref: MESH:C562799 xref: MIM:229050 xref: NCI:C156424 xref: ORDO:90045 xref: SNOMEDCT_US_2023_03_01:62578003 xref: UMLS_CUI:C0342705 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111679 name: glutamate formiminotransferase deficiency def: "A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3." [url:https\://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/12815595] subset: DO_rare_slim synonym: "Arakawa syndrome 1" EXACT [] synonym: "FIGLU-uria" EXACT [] synonym: "formiminoglutamic acidemia" EXACT [] synonym: "formiminoglutamic aciduria" EXACT [] synonym: "formiminotransferase cyclodeaminase deficiency" EXACT [] synonym: "formiminotransferase deficiency syndrome" EXACT [] synonym: "FTCD deficiency" EXACT [] xref: GARD:9279 xref: MESH:C537425 xref: MIM:229100 xref: ORDO:51208 xref: SNOMEDCT_US_2023_03_01:59761008 xref: UMLS_CUI:C0268609 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111680 name: essential fructosuria def: "A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7833921] subset: DO_rare_slim synonym: "fructokinase deficiency" EXACT [] synonym: "hepatic fructokinase deficiency" EXACT [] synonym: "ketohexokinase deficiency" EXACT [] xref: ICD10CM:E74.11 xref: MEDDRA:10015487 xref: MESH:C538068 xref: MIM:229800 xref: ORDO:2056 xref: SNOMEDCT_US_2023_03_01:124300009 xref: UMLS_CUI:C0268160 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:0111681 name: glutamate-cysteine ligase deficiency def: "An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10515893, url:https\://www.ncbi.nlm.nih.gov/pubmed/5058793] subset: DO_rare_slim synonym: "gamma-glutamylcysteine synthetase deficiency" EXACT [] synonym: "hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency" EXACT [] xref: MESH:C565557 xref: MIM:230450 xref: ORDO:33574 xref: UMLS_CUI:C1856603 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111682 name: diffuse cystic renal dysplasia def: "A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21922595, url:https\://www.ncbi.nlm.nih.gov/pubmed/8725780] subset: DO_rare_slim synonym: "CYSRD" EXACT OMO:0003012 [] synonym: "renal dysplasia diffuse cystic" EXACT [] synonym: "susceptibility to cystic renal dysplasia" EXACT [] xref: GARD:4658 xref: MIM:601331 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2975 ! cystic kidney disease [Term] id: DOID:0111683 name: neurofibromatosis-Noonan syndrome def: "A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12707950, url:https\://www.ncbi.nlm.nih.gov/pubmed/2411134] subset: DO_rare_slim synonym: "neurofibromatosis type 1-Noonan syndrome" EXACT [] synonym: "neurofibromatosis with Noonan phenotype" EXACT [] synonym: "NFNS" EXACT OMO:0003012 [] synonym: "Noonan neurofibromatosis syndrome" EXACT [] xref: GARD:372 xref: MESH:C537393 xref: MIM:601321 xref: ORDO:638 xref: SNOMEDCT_US_2023_03_01:715344006 xref: UMLS_CUI:C2931482 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy property_value: exactMatch "GARD:372" xsd:string property_value: exactMatch "MESH:C537393" xsd:string property_value: exactMatch "MIM:601321" xsd:string property_value: exactMatch "ORDO:638" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:715344006" xsd:string property_value: exactMatch "UMLS_CUI:C2931482" xsd:string [Term] id: DOID:0111684 name: hereditary mixed polyposis syndrome def: "An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8644741] subset: DO_rare_slim synonym: "HMPS" EXACT OMO:0003012 [] xref: ORDO:157794 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:0111685 name: hereditary mixed polyposis syndrome 1 def: "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22561515, url:https\://www.ncbi.nlm.nih.gov/pubmed/8644741] synonym: "chromosome 15q13-q14 duplication syndrome, 40-KB" EXACT [] synonym: "colorectal adenoma and carcinoma 1" EXACT [] synonym: "CRAC1" EXACT OMO:0003012 [] synonym: "HMPS1" EXACT OMO:0003012 [] xref: MIM:601228 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:0111684 ! hereditary mixed polyposis syndrome [Term] id: DOID:0111686 name: hereditary mixed polyposis syndrome 2 def: "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16525031] synonym: "HMPS2" EXACT OMO:0003012 [] xref: MIM:610069 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111684 ! hereditary mixed polyposis syndrome [Term] id: DOID:0111687 name: Potocki-Shaffer syndrome def: "A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2." [url:https\://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/20140962, url:https\://www.ncbi.nlm.nih.gov/pubmed/8644736] subset: DO_rare_slim subset: NCIthesaurus synonym: "11p11.2 deletion" EXACT [] synonym: "proximal 11p deletion syndrome" EXACT [] synonym: "PSS" EXACT OMO:0003012 [] xref: GARD:9762 xref: MESH:C538356 xref: MIM:601224 xref: NCI:C75456 xref: ORDO:52022 xref: SNOMEDCT_US_2023_03_01:702346005 xref: UMLS_CUI:C1832588 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:0111688 name: Ayme-Gripp syndrome def: "A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25865493, url:https\://www.ncbi.nlm.nih.gov/pubmed/8834052] synonym: "AYGRP" EXACT OMO:0003012 [] synonym: "cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation" EXACT [] xref: MESH:C563390 xref: MIM:601088 xref: UMLS_CUI:C1832812 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111689 name: familial adult myoclonic epilepsy def: "An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20548044] subset: DO_rare_slim synonym: "BAFME" EXACT OMO:0003012 [] synonym: "benign adult familial myoclonic epilepsy" EXACT [] synonym: "benign adult familial myoclonus epilepsy" EXACT [] synonym: "FAME" EXACT OMO:0003012 [] synonym: "familial cortical myoclonic tremor and epilepsy" EXACT [] synonym: "FCMTE" EXACT OMO:0003012 [] xref: MIM:PS601068 xref: ORDO:86814 xref: SNOMEDCT_US_2023_03_01:717225001 xref: UMLS_CUI:C4273988 is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome [Term] id: DOID:0111690 name: familial adult myoclonic epilepsy 1 def: "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29507423, url:https\://www.ncbi.nlm.nih.gov/pubmed/29939203] synonym: "BAFME1" EXACT OMO:0003012 [] synonym: "benign adult familial myoclonic epilepsy 1" EXACT [] synonym: "FAME1" EXACT OMO:0003012 [] synonym: "familial cortical myoclonic tremor and epilepsy 1" EXACT [] synonym: "FCMTE1" EXACT OMO:0003012 [] xref: MIM:601068 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111691 name: familial adult myoclonic epilepsy 5 def: "A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23518707] synonym: "FAME5" EXACT OMO:0003012 [] synonym: "familial cortical myoclonic tremor and epilepsy 5" EXACT [] synonym: "FCMTE5" EXACT OMO:0003012 [] xref: MIM:615400 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111692 name: familial adult myoclonic epilepsy 2 def: "A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22491192, url:https\://www.ncbi.nlm.nih.gov/pubmed/24114805, url:https\://www.ncbi.nlm.nih.gov/pubmed/31664034] synonym: "ADCME" EXACT OMO:0003012 [] synonym: "autosomal dominant cortical myoclonus and epilepsy" EXACT [] synonym: "BAFME2" EXACT OMO:0003012 [] synonym: "benign adult familial myoclonic epilepsy 2" EXACT [] synonym: "FAME2" EXACT OMO:0003012 [] synonym: "familial cortical myoclonic tremor and epilepsy 2" EXACT [] synonym: "FCMTE2" EXACT OMO:0003012 [] xref: MIM:607876 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111693 name: familial adult myoclonic epilepsy 4 def: "A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31539032] synonym: "FAME4" EXACT OMO:0003012 [] synonym: "familial cortical myoclonic tremor and epilepsy 4" EXACT [] synonym: "FCMTE4" EXACT OMO:0003012 [] xref: MIM:615127 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111694 name: familial adult myoclonic epilepsy 7 def: "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29507423] synonym: "BAFME7" EXACT OMO:0003012 [] synonym: "benign adult familial myoclonic epilepsy 7" EXACT [] synonym: "FAME7" EXACT OMO:0003012 [] synonym: "familial cortical myoclonic tremor and epilepsy 7" EXACT [] synonym: "FCMTE7" EXACT OMO:0003012 [] xref: MIM:618075 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111695 name: familial adult myoclonic epilepsy 3 def: "A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31664039] synonym: "FAME3" EXACT OMO:0003012 [] synonym: "familial cortical myoclonic tremor and epilepsy 3" EXACT [] synonym: "FCMTE3" EXACT OMO:0003012 [] xref: MIM:613608 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111696 name: familial adult myoclonic epilepsy 6 def: "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29507423] synonym: "BAFME6" EXACT OMO:0003012 [] synonym: "benign adult familial myoclonic epilepsy 6" EXACT [] synonym: "FAME6" EXACT OMO:0003012 [] synonym: "familial cortical myoclonic tremor and epilepsy 6" EXACT [] synonym: "FCMTE6" EXACT OMO:0003012 [] xref: MIM:618074 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111697 name: cleft palate, cardiac defects, and intellectual disabillity def: "A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24678003, url:https\://www.ncbi.nlm.nih.gov/pubmed/8825606] synonym: "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies" EXACT [] synonym: "cleft palate, cardiac defects, and mental retardation" EXACT [] synonym: "CPCMR" EXACT OMO:0003012 [] xref: MESH:C563414 xref: MIM:600987 xref: UMLS_CUI:C1832950 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111698 name: proprotein convertase 1/3 deficiency def: "A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14617756, url:https\://www.ncbi.nlm.nih.gov/pubmed/7477119, url:https\://www.ncbi.nlm.nih.gov/pubmed/9207799] subset: DO_rare_slim synonym: "obesity and endocrinopathy due to impaired processing of prohormones" EXACT [] synonym: "obesity due to prohormone convertase I deficiency" EXACT [] synonym: "obesity with impaired prohormone processing" EXACT [] synonym: "PCI deficiency" EXACT [] xref: MESH:C563423 xref: MIM:600955 xref: ORDO:71528 xref: UMLS_CUI:C1833053 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111699 name: Van den Ende-Gupta syndrome def: "A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23808541] subset: DO_rare_slim synonym: "blepharophimosis, arachnodactyly, and congenital contractures" EXACT [] synonym: "Marden-Walker-like syndrome" EXACT [] synonym: "Marden-Walker-like syndrome without psychmotor retardation" EXACT [] synonym: "VDEGS" EXACT OMO:0003012 [] xref: GARD:3382 xref: MESH:C535909 xref: MIM:600920 xref: ORDO:2460 xref: SNOMEDCT_US_2023_03_01:719845008 xref: UMLS_CUI:C1833136 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111700 name: ankyrin-B-related cardiac arrhythmia def: "A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26." [url:https\://ghr.nlm.nih.gov/condition/ankyrin-b-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15178757, url:https\://www.ncbi.nlm.nih.gov/pubmed/17242276] subset: DO_rare_slim synonym: "ankyrin-B syndrome" EXACT [] xref: GARD:13294 xref: MIM:600919 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:114 ! heart disease [Term] id: DOID:0111701 name: long QT syndrome 4 def: "A long QT syndrome that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7485162] subset: DO_rare_slim synonym: "LQT4" EXACT OMO:0003012 [] xref: GARD:10432 xref: MESH:C563428 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0111702 name: loose anagen hair syndrome def: "An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1705765, url:https\://www.ncbi.nlm.nih.gov/pubmed/2915059] subset: DO_rare_slim synonym: "loose anagen syndrome" EXACT [] xref: GARD:3287 xref: MESH:D058247 xref: MIM:600628 xref: ORDO:168 xref: SNOMEDCT_US_2023_03_01:238735005 xref: UMLS_CUI:C0406468 is_a: DOID:987 ! alopecia [Term] id: DOID:0111703 name: familial hypertryptophanemia def: "An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28285122, url:https\://www.ncbi.nlm.nih.gov/pubmed/7628119] subset: DO_rare_slim synonym: "HYPTRP" EXACT OMO:0003012 [] xref: GARD:2871 xref: MESH:C563467 xref: MIM:600627 xref: ORDO:2224 xref: SNOMEDCT_US_2023_03_01:721838005 xref: UMLS_CUI:C2931837 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111704 name: chromosome 2q37 deletion syndrome def: "A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2." [url:https\://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/23188045, url:https\://www.ncbi.nlm.nih.gov/pubmed/24715439, url:https\://www.ncbi.nlm.nih.gov/pubmed/25402011] subset: DO_rare_slim subset: NCIthesaurus synonym: "2q37 microdeletion syndrome" EXACT [] synonym: "Albright hereditary osteodystrophy type 3" EXACT [] synonym: "Albright hereditary osteodystrophy-like syndrome" EXACT [] synonym: "Albright's hereditary osteodystrophy-like syndrome" EXACT [] synonym: "BDMR" EXACT OMO:0003012 [] synonym: "Brachydactyly-intellectual disability syndrome" EXACT [] synonym: "Del(2)(q37)" EXACT [] synonym: "deletion 2q37" EXACT [] synonym: "monosomy 2q37qter" EXACT [] xref: MESH:C538317 xref: MIM:600430 xref: NCI:C129021 xref: ORDO:1001 xref: SNOMEDCT_US_2023_03_01:702357000 xref: UMLS_CUI:C2931817 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0111705 name: oculoectodermal syndrome def: "An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25808193, url:https\://www.ncbi.nlm.nih.gov/pubmed/26970110] subset: DO_rare_slim synonym: "aplasia cutis congenita-epibulbar dermoids syndrome" EXACT [] synonym: "Toriello-Lacassie-Droste syndrome" EXACT [] xref: GARD:10366 xref: MESH:C563969 xref: MIM:600268 xref: ORDO:3339 xref: SNOMEDCT_US_2023_03_01:723554006 xref: UMLS_CUI:C1838329 is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111706 name: oblique facial clefting 1 def: "An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23." [url:https\://en.wikipedia.org/wiki/Craniofacial_cleft#Tessier_classification, url:https\://www.ncbi.nlm.nih.gov/pubmed/21703590, url:https\://www.ncbi.nlm.nih.gov/pubmed/820824] synonym: "Tessier number 4 facial cleft" EXACT [] xref: MIM:600251 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111707 name: Bothnian type palmoplantar keratoderma def: "A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23830519, url:https\://www.ncbi.nlm.nih.gov/pubmed/7531539] subset: DO_rare_slim synonym: "diffuse palmoplantar keratoderma, Bothnian type" EXACT [] synonym: "PPKB" EXACT OMO:0003012 [] xref: GARD:1862 xref: MESH:C536173 xref: MIM:600231 xref: ORDO:2337 xref: UMLS_CUI:C1838359 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:0050736 ! autosomal dominant disease property_value: exactMatch "GARD:1862" xsd:string property_value: exactMatch "MESH:C536173" xsd:string property_value: exactMatch "MIM:600231" xsd:string property_value: exactMatch "ORDO:2337" xsd:string property_value: exactMatch "UMLS_CUI:C1838359" xsd:string [Term] id: DOID:0111708 name: focal nonepidermolytic palmoplantar keratoderma def: "A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction." [url:https\://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Focal, url:https\://www.ncbi.nlm.nih.gov/pubmed/21176769] subset: DO_rare_slim synonym: "FNEPPK" EXACT OMO:0003012 [] synonym: "isolated focal non-epidermolytic palmoplantar keratoderma" EXACT [] xref: MESH:C538682 xref: ORDO:448264 xref: UMLS_CUI:C2931923 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma [Term] id: DOID:0111709 name: focal nonepidermolytic palmoplantar keratoderma 1 def: "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8595410] synonym: "FNEPPK1" EXACT OMO:0003012 [] xref: MIM:613000 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111708 ! focal nonepidermolytic palmoplantar keratoderma [Term] id: DOID:0111710 name: focal or diffuse nonepidermolytic palmoplantar keratoderma def: "A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19609311, url:https\://www.ncbi.nlm.nih.gov/pubmed/21801157] subset: DO_rare_slim synonym: "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering" EXACT [] synonym: "PPKNEFD" EXACT OMO:0003012 [] xref: MIM:615735 xref: ORDO:402003 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111711 name: focal nonepidermolytic palmoplantar keratoderma 2 def: "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25285920] synonym: "FNEPPK2" EXACT OMO:0003012 [] xref: MIM:616400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111708 ! focal nonepidermolytic palmoplantar keratoderma [Term] id: DOID:0111712 name: Kagami-Ogata syndrome def: "A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10951461, url:https\://www.ncbi.nlm.nih.gov/pubmed/12938037] subset: DO_rare_slim synonym: "KOS" EXACT OMO:0003012 [] xref: MIM:608149 xref: ORDO:254519 is_a: DOID:225 ! syndrome [Term] id: DOID:0111713 name: Temple syndrome def: "A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18454453, url:https\://www.ncbi.nlm.nih.gov/pubmed/24891339] subset: DO_rare_slim subset: NCIthesaurus xref: MIM:616222 xref: NCI:C120409 xref: ORDO:254516 xref: SNOMEDCT_US_2023_03_01:778012003 xref: UMLS_CUI:C4015558 is_a: DOID:225 ! syndrome [Term] id: DOID:0111714 name: Mulchandani-Bhoj-Conlin syndrome def: "A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26248010] subset: DO_rare_slim synonym: "maternal uniparental disomy of chromosome 20" EXACT [] synonym: "maternal UPD(20)" EXACT [] synonym: "MBCS" EXACT OMO:0003012 [] synonym: "UPD(20)mat" EXACT OMO:0003012 [] xref: MIM:617352 xref: ORDO:96186 xref: SNOMEDCT_US_2023_03_01:715735007 xref: UMLS_CUI:C4275029 is_a: DOID:225 ! syndrome [Term] id: DOID:0111715 name: Schaaf-Yang syndrome def: "A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27195816] subset: DO_rare_slim synonym: "MAGEL2-related Prader-Willi-like syndrome" EXACT [] synonym: "MAGEL2-related PWLS" EXACT [] synonym: "PWLS" EXACT OMO:0003012 [] synonym: "SHFYNG" EXACT OMO:0003012 [] xref: GARD:13316 xref: MIM:615547 xref: ORDO:398069 xref: SNOMEDCT_US_2023_03_01:770680004 xref: UMLS_CUI:C3809877 is_a: DOID:225 ! syndrome [Term] id: DOID:0111716 name: cryptophthalmia def: "A physical disorder characterized by ocular dysplasia with eyelid malformation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30802441] subset: DO_rare_slim subset: NCIthesaurus synonym: "cryptophthalmos" EXACT [] xref: ICD10CM:Q11.2 xref: ICD9CM:743.06 xref: NCI:C124520 xref: ORDO:98562 xref: SNOMEDCT_US_2023_03_01:62589005 xref: UMLS_CUI:C0311249 is_a: DOID:0080015 ! physical disorder [Term] id: DOID:0111717 name: isolated cryptophthalmia def: "A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16352480, url:https\://www.ncbi.nlm.nih.gov/pubmed/29688405, url:https\://www.ncbi.nlm.nih.gov/pubmed/31366340] subset: DO_rare_slim synonym: "CRYPTOP" EXACT OMO:0003012 [] synonym: "unilateral or bilateral isolated cryptophthalmos" EXACT [] xref: MESH:C565138 xref: MIM:123570 xref: ORDO:91396 xref: UMLS_CUI:C1852453 is_a: DOID:0111716 ! cryptophthalmia [Term] id: DOID:0111718 name: partial cryptophthalmia def: "An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31366340] subset: DO_rare_slim synonym: "incomplete cryptophthalmos" EXACT [] xref: ORDO:98950 is_a: DOID:0111717 ! isolated cryptophthalmia [Term] id: DOID:0111719 name: complete cryptophthalmia def: "An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31366340] subset: DO_rare_slim xref: ORDO:98949 is_a: DOID:0111717 ! isolated cryptophthalmia [Term] id: DOID:0111720 name: congenital symblepharon def: "An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16352480, url:https\://www.ncbi.nlm.nih.gov/pubmed/31366340] subset: DO_rare_slim xref: ORDO:98948 is_a: DOID:0111717 ! isolated cryptophthalmia [Term] id: DOID:0111721 name: amelogenesis imperfecta type 3 def: "An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30506946] subset: DO_rare_slim synonym: "AI3" EXACT OMO:0003012 [] synonym: "hypocalcified amelogenesis imperfecta" EXACT [] xref: MESH:C562880 xref: ORDO:100032 xref: SNOMEDCT_US_2023_03_01:109471001 xref: UMLS_CUI:C0399376 is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0111722 name: amelogenesis imperfecta type 3C def: "An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30506946] synonym: "AI3C" EXACT OMO:0003012 [] synonym: "amelogenesis imperfecta type IIIC" EXACT [] synonym: "autosomal recessive amelogenesis imperfecta hypocalcification type" EXACT [] xref: MIM:618386 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111721 ! amelogenesis imperfecta type 3 [Term] id: DOID:0111723 name: Jacobsen Syndrome def: "A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q." [url:https\://www.ncbi.nlm.nih.gov/pubmed/4134631] subset: DO_rare_slim synonym: "chromosome 11q deletion syndrome" EXACT [] synonym: "Jacobsen distal 11q deletion syndrome" EXACT [] synonym: "partial 11q monosomy syndrome" EXACT [] xref: GARD:307 xref: MESH:D054868 xref: MIM:147791 xref: ORDO:2308 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0111724 name: geleophysic dysplasia def: "A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis." [url:https\://ghr.nlm.nih.gov/condition/geleophysic-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301776, url:https\://www.ncbi.nlm.nih.gov/pubmed/31516831] subset: DO_rare_slim synonym: "geleophysic dwarfism" EXACT [] synonym: "GPHYSD" EXACT OMO:0003012 [] xref: GARD:2449 xref: MEDDRA:10063361 xref: MIM:PS231050 xref: ORDO:2623 xref: SNOMEDCT_US_2023_03_01:28557005 xref: UMLS_CUI:C3489726 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:0111725 name: geleophysic dysplasia 1 def: "A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21683322] synonym: "GPHYSD1" EXACT OMO:0003012 [] xref: MIM:231050 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111724 ! geleophysic dysplasia [Term] id: DOID:0111726 name: geleophysic dysplasia 2 def: "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21683322] synonym: "GPHYSD2" EXACT OMO:0003012 [] xref: MIM:614185 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111724 ! geleophysic dysplasia [Term] id: DOID:0111727 name: geleophysic dysplasia 3 def: "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in the LTBP3 gene on chromosome 11q13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27068007] synonym: "GPHYSD3" EXACT OMO:0003012 [] xref: MIM:617809 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111724 ! geleophysic dysplasia [Term] id: DOID:0111728 name: familial episodic pain syndrome def: "A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24813307, url:https\://www.ncbi.nlm.nih.gov/pubmed/28298626] subset: DO_rare_slim synonym: "FEPS" EXACT OMO:0003012 [] xref: GARD:12684 xref: MIM:PS615040 xref: ORDO:391384 is_a: DOID:870 ! neuropathy [Term] id: DOID:0111729 name: familial episodic pain syndrome 1 def: "A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20547126] subset: DO_rare_slim synonym: "FEPS1" EXACT OMO:0003012 [] xref: MIM:615040 xref: ORDO:391389 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111728 ! familial episodic pain syndrome [Term] id: DOID:0111730 name: familial episodic pain syndrome 2 def: "A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23115331] synonym: "FEPS2" EXACT OMO:0003012 [] xref: MIM:615551 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111728 ! familial episodic pain syndrome [Term] id: DOID:0111731 name: familial episodic pain syndrome 3 def: "A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24207120] subset: DO_rare_slim subset: NCIthesaurus synonym: "FEPS3" EXACT OMO:0003012 [] xref: MIM:615552 xref: NCI:C125390 xref: ORDO:391392 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111728 ! familial episodic pain syndrome [Term] id: DOID:0111732 name: Eiken syndrome def: "A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6734674] subset: DO_rare_slim synonym: "bone modeling defect of hands and feet" EXACT [] synonym: "Eiken skeletal dysplasia" EXACT [] xref: MESH:C564010 xref: MIM:600002 xref: ORDO:79106 xref: SNOMEDCT_US_2023_03_01:720863002 xref: UMLS_CUI:C1838779 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080006 ! bone development disease [Term] id: DOID:0111733 name: pancreatic hypoplasia-diabetes-congenital heart disease syndrome def: "A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22158542, url:https\://www.ncbi.nlm.nih.gov/pubmed/8071961] synonym: "congenital heart defects and other congenital anomalies" EXACT [] synonym: "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease" EXACT [] synonym: "HDCA" EXACT OMO:0003012 [] synonym: "PACHD" EXACT OMO:0003012 [] synonym: "pancreatic agenesis and congenital heart defects" EXACT [] synonym: "Yorifuji-Okuno syndrome" EXACT [] xref: MIM:600001 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0111734 name: aminoglycoside-induced deafness def: "A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16152638, url:https\://www.ncbi.nlm.nih.gov/pubmed/7689389] synonym: "streptomycin ototoxicity" EXACT [] synonym: "streptomycin-induced deafness" EXACT [] xref: MIM:580000 is_a: DOID:0070310 ! drug-induced hearing loss [Term] id: DOID:0111735 name: X-linked deafness 4 def: "An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8872482] synonym: "DFN6" EXACT OMO:0003012 [] synonym: "DFNX4" EXACT OMO:0003012 [] synonym: "nonsyndromic sensorineural progressive deafness 6" EXACT [] synonym: "X-linked progressive deafness 6" EXACT [] xref: MIM:300066 is_a: DOID:0050566 ! X-linked nonsyndromic deafness [Term] id: DOID:0111736 name: X-linked deafness 3 def: "An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18005182, url:https\://www.ncbi.nlm.nih.gov/pubmed/7942846] synonym: "congenital sensorineural X-linked deafness 4" EXACT [] synonym: "DFN4" EXACT OMO:0003012 [] synonym: "DFNX3" EXACT OMO:0003012 [] xref: MIM:300030 is_a: DOID:0050566 ! X-linked nonsyndromic deafness [Term] id: DOID:0111737 name: X-linked deafness 2 alt_id: DOID:0080783 def: "An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20412083, url:https\://www.ncbi.nlm.nih.gov/pubmed/7839145] subset: DO_rare_slim synonym: "conductive deafness 3 with stapes fixation" EXACT [] synonym: "conductive deafness with stapes fixation" EXACT [] synonym: "DFN3" EXACT OMO:0003012 [] synonym: "DFNX2" EXACT OMO:0003012 [] synonym: "mixed deafness with perilymphatic gusher" EXACT [] synonym: "Nance deafness" EXACT [] synonym: "X-linked deafness type 2" EXACT [] synonym: "X-linked mixed conductive and neurosensory deafness" EXACT [] synonym: "X-linked mixed conductive and neurosensory hearing loss" EXACT [] synonym: "X-linked mixed conductive and sensorineural deafness" EXACT [] synonym: "X-linked mixed conductive and sensorineural hearing loss" EXACT [] synonym: "X-linked sensorineural deafness" EXACT [] synonym: "X-linked stapes gusher syndrome" EXACT [] xref: MIM:304400 xref: ORDO:383 is_a: DOID:0050566 ! X-linked nonsyndromic deafness [Term] id: DOID:0111738 name: X-linked deafness 7 def: "An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28096187] subset: DO_rare_slim synonym: "DFNX7" EXACT OMO:0003012 [] synonym: "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome" EXACT [] xref: MIM:301018 xref: ORDO:500188 is_a: DOID:0050566 ! X-linked nonsyndromic deafness [Term] id: DOID:0111739 name: X-linked deafness 1 def: "An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20021999, url:https\://www.ncbi.nlm.nih.gov/pubmed/8968763] synonym: "DFN2" EXACT OMO:0003012 [] synonym: "DFNX1" EXACT OMO:0003012 [] synonym: "X-linked sensorineural congenital deafness 2" EXACT [] xref: MIM:304500 is_a: DOID:0050566 ! X-linked nonsyndromic deafness [Term] id: DOID:0111740 name: X-linked deafness 6 def: "An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23714752] synonym: "DFNX6" EXACT OMO:0003012 [] xref: MIM:300914 is_a: DOID:0050566 ! X-linked nonsyndromic deafness [Term] id: DOID:0111741 name: X-linked deafness 5 def: "A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16816020, url:https\://www.ncbi.nlm.nih.gov/pubmed/25986071] subset: DO_rare_slim synonym: "AUNX1" EXACT OMO:0003012 [] synonym: "DFNX5" EXACT OMO:0003012 [] synonym: "X-linked auditory neuropathy 1 with peripheral sensory neuropathy" EXACT [] synonym: "X-linked auditory neuropathy with peripheral sensory neuropathy type 1" EXACT [] synonym: "X-linked HSAN with deafness" EXACT [] xref: MIM:300614 xref: ORDO:139583 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:870 ! neuropathy [Term] id: DOID:0111742 name: cerebellar ataxia type 42 def: "An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26456284] subset: DO_rare_slim synonym: "SCA42" EXACT OMO:0003012 [] xref: MIM:616795 xref: ORDO:458803 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0111743 name: cerebellar ataxia type 47 def: "An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29474920] synonym: "SCA47" EXACT OMO:0003012 [] xref: MIM:617931 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0111744 name: cerebellar ataxia type 41 def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25477146] subset: DO_rare_slim synonym: "SCA41" EXACT OMO:0003012 [] xref: MIM:616410 xref: ORDO:458798 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0111745 name: cerebellar ataxia type 43 def: "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27583304] subset: DO_rare_slim synonym: "SCA43" EXACT OMO:0003012 [] xref: MIM:617018 xref: ORDO:497764 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0111746 name: cerebellar ataxia type 48 def: "An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30381368] synonym: "SCA48" EXACT OMO:0003012 [] xref: MIM:618093 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0111747 name: cerebellar ataxia type 9 def: "An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31632837, url:https\://www.ncbi.nlm.nih.gov/pubmed/9159738] subset: DO_rare_slim synonym: "SCA9" EXACT OMO:0003012 [] xref: GARD:10481 xref: MIM:612876 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0111748 name: mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 def: "A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1550128] subset: DO_rare_slim synonym: "MC5DM1" EXACT OMO:0003012 [] xref: MIM:500015 is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency [Term] id: DOID:0111749 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 6 def: "A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29917077] subset: DO_rare_slim synonym: "MC5DN6" EXACT OMO:0003012 [] xref: MIM:618683 is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency [Term] id: DOID:0111750 name: adult-onset ataxia and polyneuropathy def: "A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16049925] xref: MIM:500010 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0111751 name: mitochondrial nonsyndromic sensorineural deafness def: "A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10577941, url:https\://www.ncbi.nlm.nih.gov/pubmed/16650816, url:https\://www.ncbi.nlm.nih.gov/pubmed/17341440, url:https\://www.ncbi.nlm.nih.gov/pubmed/7689389, url:https\://www.ncbi.nlm.nih.gov/pubmed/8019558] xref: MIM:500008 is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:0111752 name: autosomal-mitochondrial sensorineural deafness def: "A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1613771, url:https\://www.ncbi.nlm.nih.gov/pubmed/8817331] xref: MIM:221745 is_a: DOID:0080578 ! digenic disease is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:0111753 name: infantile hypertrophic cardiomyopathy def: "A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19188198] xref: MIM:500006 is_a: DOID:11984 ! hypertrophic cardiomyopathy [Term] id: DOID:0111754 name: Leber plus disease def: "A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27696015] subset: DO_rare_slim synonym: "LHON plus disease" EXACT [] xref: ORDO:99718 is_a: DOID:225 ! syndrome [Term] id: DOID:0111755 name: Leber hereditary optic neuropathy and dystonia def: "A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17562939, url:https\://www.ncbi.nlm.nih.gov/pubmed/19458970, url:https\://www.ncbi.nlm.nih.gov/pubmed/3711913, url:https\://www.ncbi.nlm.nih.gov/pubmed/3736869, url:https\://www.ncbi.nlm.nih.gov/pubmed/8644732] synonym: "familial dystonia with visual failure and striatal lucencies" EXACT [] synonym: "LDYT" EXACT OMO:0003012 [] synonym: "Leber optic atrophy and dystonia" EXACT [] synonym: "Leber optic atrophy with dystonia" EXACT [] synonym: "Marsden syndrome" EXACT [] xref: MIM:500001 is_a: DOID:0111754 ! Leber plus disease [Term] id: DOID:0111756 name: Leber hereditary optic neuropathy with demyelinating disease of CNS def: "A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14213470] xref: MIM:165200 is_a: DOID:0111754 ! Leber plus disease [Term] id: DOID:0111757 name: Y-linked deafness def: "A nonsyndromic deafness characterized by a Y-lnked inheritance mode." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23352258] synonym: "DFNY" EXACT OMO:0003012 [] xref: MIM:PS400043 is_a: DOID:0050563 ! nonsyndromic deafness is_a: DOID:0050738 ! Y-linked monogenic disease [Term] id: DOID:0111758 name: Y-linked deafness 2 def: "A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30341416] synonym: "DFNY2" EXACT OMO:0003012 [] xref: MIM:400047 is_a: DOID:0111757 ! Y-linked deafness [Term] id: DOID:0111759 name: Y-linked deafness 1 def: "A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18720061] synonym: "DFNY1" EXACT OMO:0003012 [] xref: MIM:400043 is_a: DOID:0111757 ! Y-linked deafness [Term] id: DOID:0111760 name: 46,XX sex reversal def: "A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous." [url:https\://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301589] subset: DO_rare_slim synonym: "46,XX testicular disorder of sex development" EXACT [] synonym: "46,XX testicular DSD" EXACT [] synonym: "De la Chapelle syndrome" EXACT [] synonym: "SRXX" EXACT OMO:0003012 [] synonym: "XX, male syndrome" EXACT [] xref: GARD:399 xref: MESH:D058531 xref: ORDO:393 is_a: DOID:14447 ! gonadal dysgenesis [Term] id: DOID:0111761 name: 46,XX sex reversal 1 def: "A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15378545] synonym: "SRXX1" EXACT OMO:0003012 [] xref: MIM:400045 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111760 ! 46,XX sex reversal [Term] id: DOID:0111762 name: 46,XX sex reversal 3 def: "A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21183788] synonym: "SRXX3" EXACT OMO:0003012 [] xref: MIM:300833 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111760 ! 46,XX sex reversal [Term] id: DOID:0111763 name: 46,XX sex reversal 2 def: "A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21208124, url:https\://www.ncbi.nlm.nih.gov/pubmed/8262517] synonym: "chromosome 17q24 dupication syndrome" EXACT [] synonym: "SRXX2" EXACT OMO:0003012 [] xref: MIM:278850 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111760 ! 46,XX sex reversal [Term] id: DOID:0111764 name: 46,XX sex reversal 4 def: "A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27378692] synonym: "SRXX4" EXACT OMO:0003012 [] xref: MIM:617480 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111760 ! 46,XX sex reversal [Term] id: DOID:0111765 name: X-linked cardiac valvular dysplasia def: "A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28." [url:https\://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/17190868] subset: DO_rare_slim subset: NCIthesaurus synonym: "CVD1" EXACT OMO:0003012 [] synonym: "Dystrophie valvulaire associee a FLNA" EXACT [] synonym: "EDS5" EXACT OMO:0003012 [] synonym: "Ehlers-Danlos syndrome, type 5" EXACT [] synonym: "Filamin A-related X-linked myxomatous valvular dysplasia" EXACT [] synonym: "FLNA-related valvular dystrophy" EXACT [] synonym: "FLNA-related X-linked myxomatous valvular dysplasia" EXACT [] synonym: "XMVD" EXACT OMO:0003012 [] xref: MESH:C536197 xref: MIM:314400 xref: NCI:C141423 xref: ORDO:555877 xref: SNOMEDCT_US_2023_03_01:67202007 xref: UMLS_CUI:C0268341 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:4079 ! heart valve disease [Term] id: DOID:0111766 name: X-linked VACTERL association def: "A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15502827, url:https\://www.ncbi.nlm.nih.gov/pubmed/20452998] subset: DO_rare_slim synonym: "VACTERL association, X-linked with or without hydrocephalus" EXACT [] synonym: "VACTERLX" EXACT OMO:0003012 [] xref: GARD:8498 xref: MIM:314390 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:14679 ! VACTERL association [Term] id: DOID:0111767 name: X-linked thrombocytopenia with beta-thalassemia def: "A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18930124, url:https\://www.ncbi.nlm.nih.gov/pubmed/22102271] subset: DO_rare_slim subset: NCIthesaurus synonym: "beta-thalassemia-X-linked thrombocytopenia syndrome" EXACT [] synonym: "GATA1-related X-linked cytopenia" EXACT [] synonym: "thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis" EXACT [] synonym: "XLTT" EXACT OMO:0003012 [] xref: MESH:C564050 xref: MIM:314050 xref: NCI:C134941 xref: ORDO:231393 xref: SNOMEDCT_US_2023_03_01:718196002 xref: UMLS_CUI:C1839161 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:0111768 name: X-linked properdin deficiency def: "A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8530058] subset: DO_rare_slim synonym: "CFPD" EXACT OMO:0003012 [] synonym: "complement factor properdin deficiency" EXACT [] xref: GARD:9913 xref: MESH:C537241 xref: MIM:312060 xref: ORDO:2966 xref: SNOMEDCT_US_2023_03_01:81166004 xref: UMLS_CUI:C0398762 xref: UMLS_CUI:C1839454 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:626 ! complement deficiency [Term] id: DOID:0111769 name: 46,XY sex reversal 6 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1956279, url:https\://www.ncbi.nlm.nih.gov/pubmed/21129722] synonym: "46,XY gonadal dysgenesis, partial or complete, MAP3K1-related" EXACT [] synonym: "46,XY sex reversal, partial or complete, MAP3K1-related" EXACT [] synonym: "SRXY6" EXACT OMO:0003012 [] xref: MIM:613762 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111770 name: 46,XY sex reversal 9 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1956279, url:https\://www.ncbi.nlm.nih.gov/pubmed/24549039] synonym: "46,XY sex reversal, ZFPM2-related" EXACT [] synonym: "SRXY9" EXACT OMO:0003012 [] xref: MIM:616067 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111771 name: 46,XY sex reversal 4 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10780781, url:https\://www.ncbi.nlm.nih.gov/pubmed/19417767, url:https\://www.ncbi.nlm.nih.gov/pubmed/1956279] synonym: "46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion" EXACT [] synonym: "chromosome 9p24.3 deletion syndrome" EXACT [] synonym: "SRXY4" EXACT OMO:0003012 [] xref: MESH:C567887 xref: MIM:154230 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111772 name: 46,XY sex reversal 3 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10369247, url:https\://www.ncbi.nlm.nih.gov/pubmed/1956279] synonym: "46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure" EXACT [] synonym: "46,XY sex reversal, partial or complete, NR5A1-related" EXACT [] synonym: "disorder of sex development, 46,XY, NR5A1-related" EXACT [] synonym: "sex reversal, XY, with or without adrenal failure" EXACT [] synonym: "SRXY3" EXACT OMO:0003012 [] xref: MIM:612965 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111773 name: 46,XY sex reversal 8 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1956279, url:https\://www.ncbi.nlm.nih.gov/pubmed/21802064, url:https\://www.ncbi.nlm.nih.gov/pubmed/4352099] subset: DO_rare_slim synonym: "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase" EXACT [] synonym: "SRXY8" EXACT OMO:0003012 [] synonym: "TDD" EXACT OMO:0003012 [] xref: MIM:614279 xref: ORDO:443087 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111774 name: 46,XY sex reversal 7 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15356051, url:https\://www.ncbi.nlm.nih.gov/pubmed/1956279] synonym: "46,XY gonadal dysgenesis, partial or complete, DHH-related" EXACT [] synonym: "46,XY sex reversal, partial or complete, DHH-related" EXACT [] synonym: "GDXYM" EXACT OMO:0003012 [] synonym: "gonadal dysgenesis, XY, male limited" EXACT [] synonym: "SRXY7" EXACT OMO:0003012 [] xref: MIM:233420 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111775 name: 46,XY sex reversal 10 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1956279, url:https\://www.ncbi.nlm.nih.gov/pubmed/22051515] synonym: "chromosome 17q24 deletion syndrome" EXACT [] synonym: "SRXY10" EXACT OMO:0003012 [] xref: MIM:616425 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111776 name: 46,XY sex reversal 5 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19361780, url:https\://www.ncbi.nlm.nih.gov/pubmed/1956279] synonym: "46,XY gonadal dysgenesis, complete, CBX2-related" EXACT [] synonym: "46,XY sex reversal, CBX2-related" EXACT [] synonym: "disorder of sex development, 46,XY, CBX2-related" EXACT [] synonym: "sex reversal, XY, CBX2-related" EXACT [] synonym: "SRXY5" EXACT OMO:0003012 [] xref: MESH:C567766 xref: MIM:613080 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111777 name: 46,XY sex reversal 2 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1956279, url:https\://www.ncbi.nlm.nih.gov/pubmed/567843, url:https\://www.ncbi.nlm.nih.gov/pubmed/7951319] subset: DO_rare_slim synonym: "46,XY sex reversal, DAX1-related" EXACT [] synonym: "46XY sex reversal 2, dosage-sensitive" EXACT [] synonym: "dosage-sensitive sex reversal" EXACT [] synonym: "SRXY2" EXACT OMO:0003012 [] xref: GARD:9159 xref: MIM:300018 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111778 name: 46,XY sex reversal 1 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1956279, url:https\://www.ncbi.nlm.nih.gov/pubmed/2247151] synonym: "46,XY gonadal dysgenesis, complete, SRY-related" EXACT [] synonym: "46,XY sex reversal, SRY-related" EXACT [] synonym: "SRXY1" EXACT OMO:0003012 [] xref: MIM:400044 is_a: DOID:0050738 ! Y-linked monogenic disease is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111779 name: X-linked panhypopituitarism def: "A panhypopituitarism that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15800844] subset: DO_rare_slim synonym: "PHPX" EXACT OMO:0003012 [] synonym: "pituitary dwarfism IV" EXACT [] xref: GARD:6737 xref: MIM:312000 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9410 ! panhypopituitarism [Term] id: DOID:0111780 name: TARP syndrome def: "A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20451169, url:https\://www.ncbi.nlm.nih.gov/pubmed/30450804] subset: DO_rare_slim synonym: "Pierre Robin sequence-congenital heart defect-talipes syndrome" EXACT [] synonym: "Pierre Robin syndrome-congenital heart defect-talipes syndrome" EXACT [] synonym: "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome" EXACT [] synonym: "TARPS" EXACT OMO:0003012 [] xref: GARD:10089 xref: MESH:C536942 xref: MIM:311900 xref: ORDO:2886 xref: SNOMEDCT_US_2023_03_01:725911008 xref: UMLS_CUI:C1839463 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111781 name: Waisman syndrome def: "A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25434005] synonym: "early-onset parkinsonism-intellectual disability syndrome" EXACT [] synonym: "Laxova-Opitz syndrome" EXACT [] xref: MIM:311510 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111782 name: otopalatodigital syndrome spectrum disorder def: "A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10706363, url:https\://www.ncbi.nlm.nih.gov/pubmed/16926860, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301567] subset: DO_rare_slim synonym: "fronto-otopalatodigital osteodysplasia" EXACT [] synonym: "OPD spectrum disorder" EXACT [] synonym: "OPSD" EXACT OMO:0003012 [] xref: ORDO:364541 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:0111783 name: otopalatodigital syndrome type 1 def: "An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12612583, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301567] subset: DO_rare_slim subset: NCIthesaurus synonym: "OPD I syndrome" EXACT [] synonym: "OPD syndrome 1" EXACT [] synonym: "OPD1" EXACT OMO:0003012 [] synonym: "oto-palato-digital syndrome type 1" EXACT [] synonym: "otopalatodigital syndrome type I" EXACT [] synonym: "Taybi syndrome" EXACT [] xref: GARD:5121 xref: MESH:C536065 xref: MIM:311300 xref: NCI:C118845 xref: ORDO:90650 xref: SNOMEDCT_US_2023_03_01:54036001 xref: UMLS_CUI:C0265251 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder [Term] id: DOID:0111784 name: otopalatodigital syndrome type 2 def: "An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28." [url:https\://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-2, url:https\://www.ncbi.nlm.nih.gov/pubmed/12612583, url:https\://www.ncbi.nlm.nih.gov/pubmed/15654694] subset: DO_rare_slim synonym: "Andre syndrome" EXACT [] synonym: "faciopalatoosseous syndrome" EXACT [] synonym: "OPD II syndrome" EXACT [] synonym: "OPD syndrome 2" EXACT [] synonym: "OPD2" EXACT OMO:0003012 [] synonym: "oto-palato-digital syndrome type 2" EXACT [] synonym: "otopalatodigital syndrome type II" EXACT [] xref: GARD:5802 xref: MESH:C538089 xref: MIM:304120 xref: ORDO:90652 xref: SNOMEDCT_US_2023_03_01:42432003 xref: UMLS_CUI:C1844696 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder [Term] id: DOID:0111785 name: frontometaphyseal dysplasia def: "An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12612583, url:https\://www.ncbi.nlm.nih.gov/pubmed/15523633] subset: DO_rare_slim synonym: "FMD" EXACT OMO:0003012 [] xref: GARD:826 xref: MESH:C538064 xref: MIM:PS305620 xref: ORDO:1826 xref: SNOMEDCT_US_2023_03_01:62803002 xref: UMLS_CUI:C0265293 is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder [Term] id: DOID:0111786 name: frontometaphyseal dysplasia 1 def: "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12612583, url:https\://www.ncbi.nlm.nih.gov/pubmed/15523633] synonym: "FMD1" EXACT OMO:0003012 [] xref: MIM:305620 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111785 ! frontometaphyseal dysplasia [Term] id: DOID:0111787 name: frontometaphyseal dysplasia 2 def: "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27426733] synonym: "FMD2" EXACT OMO:0003012 [] xref: MIM:617137 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111785 ! frontometaphyseal dysplasia [Term] id: DOID:0111788 name: Melnick-Needles syndrome def: "An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28." [url:https\://ghr.nlm.nih.gov/condition/melnick-needles-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/12612583, url:https\://www.ncbi.nlm.nih.gov/pubmed/16538226] subset: DO_rare_slim synonym: "Melnick-Needles osteodysplasty" EXACT [] synonym: "MNS" EXACT OMO:0003012 [] synonym: "osteodysplasty of Melnick and Needles" EXACT [] xref: GARD:7011 xref: MEDDRA:10060908 xref: MESH:D010009 xref: MIM:309350 xref: ORDO:1826 xref: SNOMEDCT_US_2023_03_01:13449007 xref: UMLS_CUI:C0025237 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder [Term] id: DOID:0111789 name: Frank-Ter Haar syndrome def: "An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15523657, url:https\://www.ncbi.nlm.nih.gov/pubmed/20137777] subset: DO_rare_slim synonym: "autosomal recessive Melnick-Needles syndrome" EXACT [] synonym: "Borrone dermatocardioskeletal syndrome" EXACT [] synonym: "FTHS" EXACT OMO:0003012 [] synonym: "megalocornea, multiple skeletal anomalies, and developmental delay" EXACT [] synonym: "Ter Haar syndrome" EXACT [] xref: GARD:5138 xref: MESH:C537274 xref: MIM:249420 xref: ORDO:137834 xref: SNOMEDCT_US_2023_03_01:720958002 xref: UMLS_CUI:C1855305 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder [Term] id: DOID:0111790 name: congenital nystagmus 1 def: "A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17013395] subset: DO_rare_slim synonym: "congenital motor nystagmus 1" EXACT [] synonym: "NYS1" EXACT OMO:0003012 [] synonym: "X-linked infantile nystagmus 1" EXACT [] xref: GARD:2969 xref: MIM:310700 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111791 name: congenital nystagmus 7 def: "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22065086] synonym: "autosomal dominant congenital nystagmus 7" EXACT [] synonym: "NYS7" EXACT OMO:0003012 [] xref: MIM:614826 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111792 name: congenital nystagmus 2 def: "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8661013] subset: DO_rare_slim synonym: "autosomal dominant congenital nystagmus 2" EXACT [] synonym: "congenital motor nystagmus 2" EXACT [] synonym: "NYS2" EXACT OMO:0003012 [] xref: GARD:9599 xref: MIM:164100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111793 name: congenital nystagmus 3 def: "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9806847] subset: DO_rare_slim synonym: "autosomal dominant congenital nystagmus 3" EXACT [] synonym: "NYS3" EXACT OMO:0003012 [] xref: GARD:9600 xref: MIM:608345 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111794 name: obsolete congenital nystagmus 4 def: "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 13q31-q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12525540] is_obsolete: true [Term] id: DOID:0111795 name: congenital nystagmus 6 def: "A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17516023] synonym: "NYS6" EXACT OMO:0003012 [] synonym: "X-linked congenital nystagmus 6" EXACT [] xref: MIM:300814 is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111796 name: congenital nystagmus 5 def: "A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10090899] synonym: "NYS5" EXACT OMO:0003012 [] synonym: "X-linked congenital nystagmus 5" EXACT [] xref: MIM:300589 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111797 name: autosomal recessive congenital nystagmus def: "A congenital nystagmus characterized by autosomal recessive inheritance." [url:https\://europepmc.org/article/med/305814] subset: DO_rare_slim synonym: "autosomal recessive congenital motor nystagmus" EXACT [] xref: GARD:9609 xref: MIM:257400 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111798 name: X-linked nephrolithiasis type I def: "A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15558518, url:https\://www.ncbi.nlm.nih.gov/pubmed/8559248] synonym: "nephrolithiasis 1" EXACT [] synonym: "nephrolithiasis X-linked recessive type 1" EXACT [] synonym: "NPHL1" EXACT OMO:0003012 [] synonym: "X-linked nephrolithiasis with renal failure" EXACT [] synonym: "X-linked recessive urolithiasis type 1" EXACT [] synonym: "XRN" EXACT OMO:0003012 [] xref: MIM:310468 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0111799 name: syndromic microphthalmia 1 alt_id: DOID:0111810 def: "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28." [url:https\://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/30842225/, url:https\://www.ncbi.nlm.nih.gov/pubmed/13300470, url:https\://www.ncbi.nlm.nih.gov/pubmed/24431331] comment: In OMIM, a form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1. Type 4 obsoleted by OMIM, merged into type 1 [LS]. subset: DO_rare_slim synonym: "Lenz dysplasia" EXACT [] synonym: "Lenz microphthalmia" EXACT [] synonym: "Lenz type microphthalmia" EXACT [] synonym: "MCOPS1" EXACT OMO:0003012 [] synonym: "syndromic microphthalmia 4" BROAD [] xref: GARD:5066 xref: GARD:87 xref: MIM:309800 xref: ORDO:568 xref: ORDO:85275 xref: SNOMEDCT_US_2023_03_01:717222003 xref: UMLS_CUI:C1844948 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0080636 ! syndromic microphthalmia property_value: exactMatch "MESH:C537464" xsd:string property_value: exactMatch "MESH:C564457" xsd:string [Term] id: DOID:0111800 name: syndromic microphthalmia 12 def: "A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17506106, url:https\://www.ncbi.nlm.nih.gov/pubmed/24075189] subset: DO_rare_slim synonym: "MCOPS12" EXACT OMO:0003012 [] synonym: "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects" EXACT [] xref: GARD:13235 xref: MIM:615524 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0080636 ! syndromic microphthalmia [Term] id: DOID:0111801 name: syndromic microphthalmia 3 def: "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12612584, url:https\://www.ncbi.nlm.nih.gov/pubmed/20803647] subset: DO_rare_slim synonym: "AEG syndrome" EXACT [] synonym: "anophthalmia clinical with associated anomalies" EXACT [] synonym: "anophthalmia esophageal genital syndrome" EXACT [] synonym: "anophthalmia microphthalmia esophageal atresia" EXACT [] synonym: "anophthalmia/microphthalmia-esophageal atresia syndrome" EXACT [] synonym: "MCOPS3" EXACT OMO:0003012 [] synonym: "microphthalmia and esophageal atresia syndrome" EXACT [] synonym: "SOX2 anophthalmia syndrome" EXACT [] synonym: "syndromic microphthalmia type 3" EXACT [] xref: GARD:1443 xref: MESH:C565948 xref: MIM:206900 xref: ORDO:77298 xref: SNOMEDCT_US_2023_03_01:698851003 xref: UMLS_CUI:C1859773 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080636 ! syndromic microphthalmia [Term] id: DOID:0111802 name: syndromic microphthalmia 14 def: "A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24906020] subset: DO_rare_slim synonym: "colobomatous microphthalmia-rhizomelic dysplasia syndrome" EXACT [] synonym: "MCOPS14" EXACT OMO:0003012 [] synonym: "MCSKS" EXACT OMO:0003012 [] synonym: "microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia" EXACT [] synonym: "microphthalmia/coloboma and skeletal dysplasia syndrome" EXACT [] xref: MIM:615877 xref: ORDO:424099 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0080636 ! syndromic microphthalmia [Term] id: DOID:0111803 name: syndromic microphthalmia 8 def: "A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12471201] subset: DO_rare_slim synonym: "MCOPS8" EXACT OMO:0003012 [] synonym: "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome" EXACT [] synonym: "MMEP syndrome" EXACT [] synonym: "syndromic microphthalmia type 8" EXACT [] synonym: "Viljoen-Smart syndrome" EXACT [] xref: GARD:3693 xref: MESH:C537686 xref: MIM:601349 xref: ORDO:3434 xref: SNOMEDCT_US_2023_03_01:715533002 xref: UMLS_CUI:C1832440 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0080636 ! syndromic microphthalmia [Term] id: DOID:0111804 name: syndromic microphthalmia 11 def: "A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22095910] synonym: "MCOPS11" EXACT OMO:0003012 [] xref: MIM:614402 is_a: DOID:0080636 ! syndromic microphthalmia [Term] id: DOID:0111805 name: syndromic microphthalmia 6 def: "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18252212, url:https\://www.ncbi.nlm.nih.gov/pubmed/21340693] subset: DO_rare_slim synonym: "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia" EXACT [] synonym: "Bakrania-Ragge syndrome" EXACT [] synonym: "MCOPS6" EXACT OMO:0003012 [] synonym: "microphthalmia and pituitary anomalies" EXACT [] synonym: "microphthalmia with brain and digit anomalies" EXACT [] synonym: "syndromic microphthalmia type 6" EXACT [] xref: GARD:3645 xref: MESH:C566440 xref: MIM:607932 xref: ORDO:139471 xref: SNOMEDCT_US_2023_03_01:721878003 xref: UMLS_CUI:C1864689 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080636 ! syndromic microphthalmia [Term] id: DOID:0111806 name: syndromic microphthalmia 5 def: "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15846561] subset: DO_rare_slim synonym: "MCOPS5" EXACT OMO:0003012 [] synonym: "syndromic microphthalmia type 5" EXACT [] synonym: "syndromic microphthalmia/anophthalmia due to OTX2 mutation" EXACT [] xref: GARD:3692 xref: MESH:C566441 xref: MIM:610125 xref: ORDO:178364 xref: SNOMEDCT_US_2023_03_01:718761007 xref: UMLS_CUI:C1864690 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080636 ! syndromic microphthalmia [Term] id: DOID:0111807 name: syndromic microphthalmia 9 alt_id: DOID:0050819 def: "A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17236193, url:https\://www.ncbi.nlm.nih.gov/pubmed/17273977, url:https\://www.ncbi.nlm.nih.gov/pubmed/26373900] subset: DO_rare_slim synonym: "anophthalmia-pulmonary hypoplasia syndrome" EXACT [] synonym: "anophthalmia/microphthalmia and pulmonary hypoplasia" EXACT [] synonym: "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations" EXACT [] synonym: "Matthew-Wood syndrome" EXACT [] synonym: "pulmonary agenesis microphthalmi and diaphragmatic defect" EXACT [] synonym: "spear syndrome" EXACT [] xref: MESH:C537768 xref: MIM:601186 xref: ORDO:2470 xref: SNOMEDCT_US_2023_03_01:722458000 xref: UMLS_CUI:C1832661 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080636 ! syndromic microphthalmia [Term] id: DOID:0111808 name: linear skin defects with multiple congenital anomalies 1 def: "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17033964] synonym: "MCOPS7" EXACT OMO:0003012 [] synonym: "Microphthalmia with linear skin defect syndrome" EXACT [] synonym: "microphthalmia-dermal aplasia-sclerocornea syndrome" EXACT [] synonym: "MIDAS syndrome" EXACT [] synonym: "syndromic microphthalmia 7" EXACT [] synonym: "syndromic microphthalmia type 7" EXACT [] xref: MESH:C537466 xref: MIM:309801 xref: SNOMEDCT_US_2021_09_01:721879006 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:0111875 ! MLS syndrome [Term] id: DOID:0111809 name: syndromic microphthalmia 2 def: "A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4." [url:https\://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15004558, url:https\://www.ncbi.nlm.nih.gov/pubmed/8723122] subset: DO_rare_slim synonym: "ANOP2" EXACT OMO:0003012 [] synonym: "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome" EXACT [] synonym: "MAA2" EXACT OMO:0003012 [] synonym: "MCOPS2" EXACT OMO:0003012 [] synonym: "microphthalmia cataracts radiculomegaly and septal heart defects" EXACT [] synonym: "oculofaciocardiodental syndrome" EXACT [] synonym: "OFCD syndrome" EXACT [] synonym: "syndromic microphthalmia type 2" EXACT [] xref: GARD:4628 xref: MESH:C537465 xref: MIM:300166 xref: ORDO:2712 xref: SNOMEDCT_US_2023_03_01:699300009 xref: UMLS_CUI:C1846265 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0080636 ! syndromic microphthalmia [Term] id: DOID:0111810 name: obsolete syndromic microphthalmia 4 def: "A syndromic microphthalmia characterized by clinical anophthalmia, ankyloblepharon, and intellectual deficit that has_material_basis_in hemizygous or homozygous mutation in a region of chromosome Xq27-q28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1679229] synonym: "MCOPS4" EXACT [] is_obsolete: true [Term] id: DOID:0111811 name: syndromic microphthalmia 13 def: "A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24993872, url:https\://www.ncbi.nlm.nih.gov/pubmed/4998085] subset: DO_rare_slim synonym: "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation" EXACT [] synonym: "Maine microphthalmos" EXACT [] synonym: "MCOPS13" EXACT OMO:0003012 [] synonym: "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome" EXACT [] xref: MIM:300915 xref: ORDO:431140 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0080636 ! syndromic microphthalmia [Term] id: DOID:0111812 name: syndromic microphthalmia 10 def: "A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16566018] subset: DO_rare_slim synonym: "MCOPS10" EXACT OMO:0003012 [] synonym: "microphthalmia-brain atrophy syndrome" EXACT [] synonym: "MOBA" EXACT OMO:0003012 [] xref: GARD:9292 xref: MIM:611222 xref: ORDO:77299 is_a: DOID:0080636 ! syndromic microphthalmia [Term] id: DOID:0111813 name: syndactyly type 8 def: "A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23709756] subset: DO_rare_slim synonym: "fusion of metacarpals 4 and 5" EXACT [] synonym: "metacarpal 4-5 fusion" EXACT [] xref: GARD:3559 xref: MESH:C564100 xref: MIM:309630 xref: ORDO:2498 xref: SNOMEDCT_US_2023_03_01:715442006 xref: UMLS_CUI:C1839728 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:11193 ! syndactyly [Term] id: DOID:0111814 name: methylmalonic acidemia and homocysteinemia cblX type def: "A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23000143, url:https\://www.ncbi.nlm.nih.gov/pubmed/24011988] subset: DO_rare_slim synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX" EXACT [] synonym: "mental retardation, X-linked 3" EXACT [] synonym: "methylmalonic aciduria with homocystinuria, type cblX" EXACT [] xref: MIM:309541 xref: ORDO:369962 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:14749 ! methylmalonic acidemia [Term] id: DOID:0111815 name: low molecular weight proteinuria with hypercalciuric nephrocalcinosis def: "A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9062355] xref: MIM:308990 is_a: DOID:0050699 ! Dent disease [Term] id: DOID:0111816 name: syndactyly type 1 def: "A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21167467, url:https\://www.ncbi.nlm.nih.gov/pubmed/7915184] subset: DO_rare_slim synonym: "chromosome 2q35 duplication syndrome" EXACT [] synonym: "SDTY1" EXACT OMO:0003012 [] synonym: "syndactyly, type 1, with or without craniosynostosis" EXACT [] xref: GARD:5081 xref: MIM:185900 xref: ORDO:93402 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:11193 ! syndactyly [Term] id: DOID:0111817 name: syndactyly type 3 def: "A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12457340, url:https\://www.ncbi.nlm.nih.gov/pubmed/14361398] subset: DO_rare_slim synonym: "ringand little finger syndactyly" EXACT [] synonym: "SDTY3" EXACT OMO:0003012 [] synonym: "syndactyly of fingers 4 and 5" EXACT [] synonym: "syndactyly, type III" EXACT [] xref: GARD:5088 xref: MESH:C538154 xref: MIM:186100 xref: ORDO:93404 xref: SNOMEDCT_US_2023_03_01:715725001 xref: UMLS_CUI:C1861366 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly [Term] id: DOID:0111818 name: syndactyly type 4 def: "A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17476456] subset: DO_rare_slim synonym: "Haas type syndactyly" EXACT [] synonym: "polysyndactyly, Haas type" EXACT [] synonym: "SDTY4" EXACT OMO:0003012 [] xref: GARD:4434 xref: MESH:C566092 xref: MIM:186200 xref: ORDO:93405 xref: SNOMEDCT_US_2023_03_01:719158007 xref: UMLS_CUI:C1861355 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly [Term] id: DOID:0111819 name: syndactyly type 5 def: "A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16222680] subset: DO_rare_slim synonym: "SDTY5" EXACT OMO:0003012 [] synonym: "syndactyly with associated metacarpal and metatarsal fusion" EXACT [] xref: GARD:5089 xref: MESH:C538155 xref: MIM:186300 xref: ORDO:93406 xref: SNOMEDCT_US_2023_03_01:719159004 xref: UMLS_CUI:C1861348 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly [Term] id: DOID:0111820 name: zygodactyly 1 def: "A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16189548, url:https\://www.ncbi.nlm.nih.gov/pubmed/27072775] xref: MESH:C565223 xref: MIM:609815 is_a: DOID:11193 ! syndactyly [Term] id: DOID:0111821 name: ichthyosis follicularis-alopecia-photophobia syndrome 1 def: "A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22105905, url:https\://www.ncbi.nlm.nih.gov/pubmed/4037843] subset: DO_rare_slim synonym: "ichthyosis follicularis-atrichia-photophobia syndrome 1" EXACT [] synonym: "IFAP syndrome 1" EXACT [] synonym: "IFAP syndrome 1 with or without BRESHECK syndrome" EXACT [] xref: GARD:2952 xref: MESH:C536085 xref: MIM:308205 xref: ORDO:2273 xref: UMLS_CUI:C1839988 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111822 name: CHILD syndrome def: "A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7408908] subset: DO_rare_slim synonym: "CHILD nevus" EXACT [] synonym: "congenital hemidysplasia with ichthyosiform nevus and limbs defects" EXACT [] xref: GARD:6039 xref: MESH:C562515 xref: MIM:308050 xref: ORDO:139 xref: SNOMEDCT_US_2023_03_01:17608003 xref: UMLS_CUI:C0265267 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111823 name: autosomal hemophilia A def: "A blood coagulation disease characterized by autosomal inheritance of a Factor VIII deficiency." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1169993] synonym: "autosomal Factor VIII deficiency" EXACT [] xref: MIM:134500 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:0111824 name: Aarskog syndrome def: "A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature." [url:https\://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome] subset: DO_rare_slim synonym: "faciodigitogenital syndrome" EXACT [] synonym: "faciogenital dysplasia" EXACT [] xref: ORDO:915 is_a: DOID:225 ! syndrome [Term] id: DOID:0111825 name: autosomal dominant Aarskog syndrome def: "An Aarskog syndrome characterized by autosomal dominant inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6344635] xref: MIM:100050 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111824 ! Aarskog syndrome [Term] id: DOID:0111826 name: Abruzzo-Erickson syndrome def: "A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22784330, url:https\://www.ncbi.nlm.nih.gov/pubmed/839509] subset: DO_rare_slim synonym: "CHARGE-like syndrome, X-linked" EXACT [] synonym: "cleft palate-coloboma-deafness syndrome" EXACT [] xref: GARD:360 xref: MESH:C535559 xref: MIM:302905 xref: ORDO:921 xref: SNOMEDCT_US_2023_03_01:718574003 xref: UMLS_CUI:C1844862 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111827 name: X-linked spinal muscular atrophy 2 def: "A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3." [url:https\://ghr.nlm.nih.gov/condition/x-linked-infantile-spinal-muscular-atrophy, url:https\://www.ncbi.nlm.nih.gov/pubmed/18179898, url:https\://www.ncbi.nlm.nih.gov/pubmed/3341327] subset: DO_rare_slim synonym: "infantile-onset X-linked spinal muscular atrophy" EXACT [] synonym: "SMAX2" EXACT OMO:0003012 [] synonym: "spinal muscular atrophy with arthrogryposis" EXACT [] synonym: "X-linked distal arthrogryposis multiplex congenita" EXACT [] synonym: "X-linked spinal muscular atrophy type 2" EXACT [] xref: GARD:8521 xref: MESH:C535380 xref: MIM:301830 xref: ORDO:1145 xref: SNOMEDCT_US_2023_03_01:719836007 xref: UMLS_CUI:C1844934 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111828 name: X-linked cerebellar ataxia def: "A hereditary ataxia characterized by X-linked inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10807077] subset: DO_rare_slim xref: ORDO:247765 is_a: DOID:0050953 ! X-linked hereditary ataxia [Term] id: DOID:0111829 name: X-linked spinocerebellar ataxia 1 def: "An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10797423, url:https\://www.ncbi.nlm.nih.gov/pubmed/22912398] subset: DO_rare_slim synonym: "SCAX1" EXACT OMO:0003012 [] synonym: "X-linked progressive cerebellar ataxia" EXACT [] xref: MIM:302500 xref: ORDO:1175 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111828 ! X-linked cerebellar ataxia [Term] id: DOID:0111830 name: X-linked spinocerebellar ataxia 2 def: "An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/13541590] subset: DO_rare_slim synonym: "cerebellar ataxia with extrapyramidal involvement early-onset" EXACT [] synonym: "SCAX2" EXACT OMO:0003012 [] xref: GARD:9978 xref: MIM:302600 is_a: DOID:0111828 ! X-linked cerebellar ataxia [Term] id: DOID:0111831 name: X-linked spinocerebellar ataxia 3 def: "An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3614654] subset: DO_rare_slim synonym: "SCAX3" EXACT OMO:0003012 [] synonym: "X-linked ataxia-deafness syndrome" EXACT [] synonym: "X-linked spinocerebellar ataxia type 3" EXACT [] xref: GARD:9981 xref: MESH:C537315 xref: MIM:301790 xref: ORDO:85297 xref: SNOMEDCT_US_2021_09_01:719817002 is_a: DOID:0111828 ! X-linked cerebellar ataxia [Term] id: DOID:0111832 name: X-linked spinocerebellar ataxia 4 def: "An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3470628] subset: DO_rare_slim synonym: "SCAX4" EXACT OMO:0003012 [] synonym: "X-linked ataxia-dementia syndrome" EXACT [] synonym: "X-linked spinocerebellar ataxia type 4" EXACT [] xref: GARD:9980 xref: MESH:C537316 xref: MIM:301840 xref: ORDO:85292 xref: SNOMEDCT_US_2021_09_01:719818007 is_a: DOID:0111828 ! X-linked cerebellar ataxia [Term] id: DOID:0111833 name: X-linked spinocerebellar ataxia 5 def: "An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18241076] subset: DO_rare_slim synonym: "SCAX5" EXACT OMO:0003012 [] synonym: "Spinocerebellar Ataxia, X-Linked 5" EXACT [] synonym: "X-linked non progressive cerebellar ataxia" EXACT [] xref: MESH:C567478 xref: MIM:300703 xref: ORDO:314978 xref: UMLS_CUI:C2678048 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111828 ! X-linked cerebellar ataxia [Term] id: DOID:0111834 name: X-linked reticulate pigmentary disorder def: "A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27019227] subset: DO_rare_slim synonym: "Partington disease" EXACT [] synonym: "X-linked reticulate pigmentary disorder with systemic manifestations" EXACT [] xref: MESH:C564461 xref: MIM:301220 xref: ORDO:85453 xref: SNOMEDCT_US_2023_03_01:717224002 xref: UMLS_CUI:C1845050 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10123 ! pigmentation disease [Term] id: DOID:0111835 name: congenital nongoitrous hypothyroidism 9 def: "A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30061370] synonym: "CHNG9" EXACT OMO:0003012 [] xref: MIM:301035 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111836 name: congenital nongoitrous hypothyroidism 7 def: "A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9141550] subset: DO_rare_slim synonym: "central hypothyroidism due to TRH receptor deficiency" EXACT [] synonym: "CHNG7" EXACT OMO:0003012 [] synonym: "resistance to thyrotropin-releasing hormone syndrome" EXACT [] synonym: "TRH resistance syndrome" EXACT [] xref: MIM:618573 xref: ORDO:99832 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111837 name: congenital nongoitrous hypothyroidism 8 def: "A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27603907] synonym: "CHNG8" EXACT OMO:0003012 [] xref: MIM:301033 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111838 name: Basilicata-Akhtar syndrome def: "A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30224647] synonym: "MRXS36" EXACT OMO:0003012 [] synonym: "X-linked syndromic mental retardation 36" EXACT [] synonym: "X-linked syndromic mental retardation Basilicata-Akhtar type" EXACT [] xref: MIM:301032 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0111839 name: congenital disorder of glycosylation Icc def: "A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31036665] synonym: "congenital disorder of glycosylation type Icc" EXACT [] xref: MIM:301031 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111840 name: Van Esch-O'Driscoll syndrome def: "A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31006512] subset: DO_rare_slim synonym: "MRXSVEOD" EXACT OMO:0003012 [] synonym: "VEODS" EXACT OMO:0003012 [] synonym: "X-linked intellectual disability, Van Esch type" EXACT [] synonym: "X-linked syndromic mental retardation Van Esch-O'Driscoll type" EXACT [] xref: MIM:301030 xref: ORDO:163976 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111841 name: Shukla-Vernon syndrome def: "A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30941876] synonym: "SHUVER" EXACT OMO:0003012 [] xref: MIM:301029 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111842 name: Keipert syndrome def: "A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30982611] subset: DO_rare_slim subset: NCIthesaurus synonym: "KPTS" EXACT OMO:0003012 [] synonym: "nasodigitoacoustic syndrome" EXACT [] xref: GARD:267 xref: MESH:C538337 xref: MIM:301026 xref: NCI:C186306 xref: ORDO:2662 xref: SNOMEDCT_US_2023_03_01:763774001 xref: UMLS_CUI:C1850627 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111843 name: Paganini-Miozzo syndrome def: "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30471091] synonym: "MRXSPM" EXACT OMO:0003012 [] xref: MIM:301025 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111844 name: X-linked intellectual developmental disorder 108 def: "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30335141] synonym: "MRX108" EXACT OMO:0003012 [] xref: MIM:301024 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111845 name: Mullegama-Klein-Martinez syndrome def: "A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28296084, url:https\://www.ncbi.nlm.nih.gov/pubmed/30765867] synonym: "MKMS" EXACT OMO:0003012 [] synonym: "NEDXCF" EXACT OMO:0003012 [] synonym: "X-linked neurodevelopmental disorder with craniofacial abnormalities" EXACT [] xref: MIM:301022 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0111846 name: X-linked congenital hemolytic anemia def: "A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26944472] xref: MIM:301015 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:0111847 name: osteogenesis imperfecta type 19 def: "An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27380894] synonym: "OI19" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type XIX" EXACT [] xref: MIM:301014 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0111848 name: osteogenesis imperfecta type 18 def: "An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29358272] synonym: "OI18" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta, type XVIII" EXACT [] xref: MIM:617952 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0111849 name: osteogenesis imperfecta type 20 def: "An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31564437] synonym: "OI20" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type XX" EXACT [] xref: MIM:618644 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0111850 name: primary ciliary dyskinesia 36 def: "A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28041644] synonym: "CILD36" EXACT OMO:0003012 [] synonym: "X-linked primary ciliary dyskinesia 36" EXACT [] xref: MIM:300991 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111851 name: primary ciliary dyskinesia 44 def: "A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31959991] synonym: "CILD44" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 44 without situs inversus" EXACT [] xref: MIM:618781 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111852 name: primary ciliary dyskinesia 38 def: "A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29727692, url:https\://www.ncbi.nlm.nih.gov/pubmed/29727693] synonym: "CILD38" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 38 with or without situs inversus" EXACT [] xref: MIM:618063 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111853 name: primary ciliary dyskinesia 40 def: "A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30471717, url:https\://www.ncbi.nlm.nih.gov/pubmed/30471718] synonym: "CILD40" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 40 with or without situs inversus" EXACT [] xref: MIM:618300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111854 name: primary ciliary dyskinesia 39 def: "A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30388400] synonym: "CILD39" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 39 with or without situs inversus" EXACT [] xref: MIM:618254 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111855 name: primary ciliary dyskinesia 42 def: "A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25048963] synonym: "CILD42" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 42 without situs inversus" EXACT [] xref: MIM:618695 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111856 name: primary ciliary dyskinesia 43 def: "A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31630787] synonym: "CILD43" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 43 with or without situs inversus" EXACT [] xref: MIM:618699 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111857 name: primary ciliary dyskinesia 45 def: "A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/31978331] synonym: "CILD45" EXACT OMO:0003012 [] synonym: "primary ciliary dyskinesia 45 without situs inversus" EXACT [] xref: MIM:618801 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111858 name: primary ciliary dyskinesia 41 def: "A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30665704] synonym: "CILD41" EXACT OMO:0003012 [] xref: MIM:618449 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111859 name: midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis def: "A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23." [url:https\://pubmed.ncbi.nlm.nih.gov/27811305/] synonym: "MFHIEN" EXACT OMO:0003012 [] xref: MIM:300990 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111860 name: AMME complex def: "A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3." [url:https\://pubmed.ncbi.nlm.nih.gov/12011158/] subset: DO_rare_slim synonym: "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome" EXACT [] synonym: "AMME syndrome" EXACT [] synonym: "ATS-MR" EXACT OMO:0003012 [] synonym: "chromosome Xq22.3 telomeric deletion syndrome" EXACT [] xref: MESH:C564570 xref: MIM:300194 xref: ORDO:86818 xref: SNOMEDCT_US_2023_03_01:720982007 xref: UMLS_CUI:C1846242 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:0111861 name: Meester-Loeys syndrome def: "A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/27632686/] synonym: "MRLS" EXACT OMO:0003012 [] xref: MIM:300989 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111862 name: congenital bilateral absence of vas deferens def: "A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility." [url:https\://pubmed.ncbi.nlm.nih.gov/27476656/] subset: DO_rare_slim synonym: "CAVD" EXACT OMO:0003012 [] synonym: "CBAVD" EXACT OMO:0003012 [] synonym: "congenital bilateral agenesis of vas deferens" EXACT [] synonym: "congenital bilateral aplasia of vas deferens" EXACT [] xref: MIM:PS277180 xref: ORDO:48 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0080015 ! physical disorder is_a: DOID:12336 ! male infertility property_value: exactMatch "MIM:PS277180" xsd:string [Term] id: DOID:0111863 name: X-linked congenital bilateral absence of vas deferens def: "A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13." [url:https\://pubmed.ncbi.nlm.nih.gov/27476656/] synonym: "CBAVDX" EXACT OMO:0003012 [] xref: MIM:300985 is_a: DOID:0111862 ! congenital bilateral absence of vas deferens [Term] id: DOID:0111864 name: autosomal recessive congenital bilateral absence of vas deferens def: "A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2." [url:https\://pubmed.ncbi.nlm.nih.gov/7529962/] xref: MIM:277180 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111862 ! congenital bilateral absence of vas deferens [Term] id: DOID:0111865 name: MEND syndrome def: "A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/22229330/, url:https\://pubmed.ncbi.nlm.nih.gov/24700572/] subset: DO_rare_slim synonym: "male EBP disorder with neurological defects" EXACT [] xref: MIM:300960 xref: ORDO:401973 xref: UMLS_CUI:C4085243 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0111866 name: trichothiodystrophy def: "A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections." [url:https\://ghr.nlm.nih.gov/condition/trichothiodystrophy, url:https\://pubmed.ncbi.nlm.nih.gov/18603627/] subset: DO_rare_slim subset: NCIthesaurus synonym: "TTD" EXACT OMO:0003012 [] xref: MESH:D054463 xref: MIM:PS601675 xref: NCI:C4924 xref: ORDO:33364 xref: SNOMEDCT_US_2023_03_01:723551003 xref: UMLS_CUI:C1955934 is_a: DOID:225 ! syndrome [Term] id: DOID:0111867 name: nonphotosensitive trichothiodystrophy def: "A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation." [url:https\://ghr.nlm.nih.gov/condition/trichothiodystrophy, url:https\://pubmed.ncbi.nlm.nih.gov/18603627/] is_a: DOID:0111866 ! trichothiodystrophy [Term] id: DOID:0111868 name: nonphotosensitive trichothiodystrophy 5 def: "A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24." [url:https\://pubmed.ncbi.nlm.nih.gov/25612912/, url:https\://pubmed.ncbi.nlm.nih.gov/31880405/] subset: NCIthesaurus synonym: "TTD5" EXACT OMO:0003012 [] xref: MESH:D054463 xref: MIM:300953 xref: NCI:C156433 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy [Term] id: DOID:0111869 name: photosensitive trichothiodystrophy 2 def: "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3." [url:https\://pubmed.ncbi.nlm.nih.gov/9012405/] synonym: "TTD2" EXACT OMO:0003012 [] xref: MIM:616390 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2960 ! photosensitive trichothiodystrophy [Term] id: DOID:0111870 name: nonphotosensitive trichothiodystrophy 7 def: "A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/31374204/] synonym: "TTD7" EXACT OMO:0003012 [] xref: MIM:618546 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy [Term] id: DOID:0111871 name: photosensitive trichothiodystrophy 3 def: "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/15220921/] synonym: "trichothiodystrophy complementation group A" EXACT [] synonym: "TTD3" EXACT OMO:0003012 [] xref: MIM:616395 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2960 ! photosensitive trichothiodystrophy [Term] id: DOID:0111872 name: nonphotosensitive trichothiodystrophy 6 def: "A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12." [url:https\://pubmed.ncbi.nlm.nih.gov/26996949/] synonym: "TTD6" EXACT OMO:0003012 [] xref: MIM:616943 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy [Term] id: DOID:0111873 name: photosensitive trichothiodystrophy 1 def: "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32." [url:https\://pubmed.ncbi.nlm.nih.gov/9195225/] subset: NCIthesaurus synonym: "TTD1" EXACT OMO:0003012 [] xref: MIM:601675 xref: NCI:C156433 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2960 ! photosensitive trichothiodystrophy [Term] id: DOID:0111874 name: Sabinas brittle hair syndrome def: "A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility." [url:https\://pubmed.ncbi.nlm.nih.gov/7325159/] subset: DO_rare_slim synonym: "brittle hair-mental deficiency syndrome" EXACT [] synonym: "trichothiodystrophy type B" EXACT [] xref: MESH:C536320 xref: MIM:211390 xref: ORDO:3123 is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy [Term] id: DOID:0111875 name: MLS syndrome def: "A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities." [url:https\://pubmed.ncbi.nlm.nih.gov/20301767/, url:https\://www.ncbi.nlm.nih.gov/books/NBK7041/] synonym: "linear skin defects with multiple congenital anomalies" EXACT [] xref: MIM:PS309801 is_a: DOID:225 ! syndrome [Term] id: DOID:0111876 name: linear skin defects with multiple congenital anomalies 3 def: "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3." [url:https\://pubmed.ncbi.nlm.nih.gov/25772934/] synonym: "linear skin defects with cardiomyopathy and other congenital anomalies" EXACT [] synonym: "LSDMCA3" EXACT OMO:0003012 [] xref: MIM:300952 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:0111875 ! MLS syndrome [Term] id: DOID:0111877 name: linear skin defects with multiple congenital anomalies 2 def: "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1." [url:https\://pubmed.ncbi.nlm.nih.gov/23122588/, url:https\://pubmed.ncbi.nlm.nih.gov/9747372/] synonym: "aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies" EXACT [] synonym: "APLCC" EXACT OMO:0003012 [] synonym: "LSDMCA2" EXACT OMO:0003012 [] xref: MIM:300887 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:0111875 ! MLS syndrome [Term] id: DOID:0111878 name: Diamond-Blackfan anemia 7 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11." [url:https\://pubmed.ncbi.nlm.nih.gov/19061985/] synonym: "DBA7" EXACT OMO:0003012 [] synonym: "RPL11-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567254 xref: MIM:612562 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111879 name: Diamond-Blackfan anemia 6 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/19061985/] synonym: "DBA6" EXACT OMO:0003012 [] synonym: "RPL5-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C538442 xref: MIM:612561 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111880 name: Diamond-Blackfan anemia 17 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/25424902/] synonym: "DBA17" EXACT OMO:0003012 [] synonym: "RPS27-related Diamond-Blackfan anemia" EXACT [] xref: MIM:617409 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111881 name: Diamond-Blackfan anemia 8 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/19061985/] synonym: "DBA8" EXACT OMO:0003012 [] synonym: "RPS7-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567253 xref: MIM:612563 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111882 name: Diamond-Blackfan anemia 12 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2." [url:https\://pubmed.ncbi.nlm.nih.gov/23812780/] synonym: "DBA12" EXACT OMO:0003012 [] synonym: "RPL15-related Diamond-Blackfan anemia" EXACT [] xref: MIM:615550 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111883 name: Diamond-Blackfan anemia 5 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29." [url:https\://pubmed.ncbi.nlm.nih.gov/18535205/] synonym: "DBA5" EXACT OMO:0003012 [] synonym: "RPL35A-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567280 xref: MIM:612528 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111884 name: Diamond-Blackfan anemia 9 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31." [url:https\://pubmed.ncbi.nlm.nih.gov/20116044/] synonym: "DBA9" EXACT OMO:0003012 [] synonym: "RPS10-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567650 xref: MIM:613308 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111885 name: Diamond-Blackfan anemia 2 def: "A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22." [url:https\://pubmed.ncbi.nlm.nih.gov/11264183/] synonym: "DBA2" EXACT OMO:0003012 [] xref: MESH:C536130 xref: MIM:606129 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111886 name: Diamond-Blackfan anemia 19 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35 gene on chromosome 9q33.3." [url:https\://pubmed.ncbi.nlm.nih.gov/28280134/] synonym: "DBA19" EXACT OMO:0003012 [] synonym: "RPL35-related Diamond-Blackfan anemia" EXACT [] xref: MIM:618312 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111887 name: Diamond-blackfan anemia 3 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3." [url:https\://pubmed.ncbi.nlm.nih.gov/17186470/] synonym: "DBA3" EXACT OMO:0003012 [] synonym: "RPS24-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C536355 xref: MIM:610629 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111888 name: Diamond-Blackfan anemia 10 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/20116044/] synonym: "DBA10" EXACT OMO:0003012 [] synonym: "RPS26-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567649 xref: MIM:613309 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111889 name: Diamond-Blackfan anemia 13 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/24829207/] synonym: "DBA13" EXACT OMO:0003012 [] synonym: "RPS29-related Diamond-Blackfan anemia" EXACT [] xref: MIM:615909 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111890 name: Diamond-Blackfan anemia 4 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2." [url:https\://pubmed.ncbi.nlm.nih.gov/17647292/] synonym: "DBA4" EXACT OMO:0003012 [] synonym: "RPS17-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567281 xref: MIM:612527 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111891 name: Diamond-Blackfan anemia 20 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3." [url:https\://pubmed.ncbi.nlm.nih.gov/27909223/] synonym: "DBA20" EXACT OMO:0003012 [] synonym: "RPS15A-related Diamond-Blackfan anemia" EXACT [] xref: MIM:618313 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111892 name: Diamond-Blackfan anemia 11 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/22431104/] synonym: "DBA11" EXACT OMO:0003012 [] synonym: "RPL26-related Diamond-Blackfan anemia" EXACT [] xref: MIM:614900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111893 name: Diamond-Blackfan anemia 16 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31." [url:https\://pubmed.ncbi.nlm.nih.gov/25424902/] synonym: "DBA16" EXACT OMO:0003012 [] synonym: "RPL27-related Diamond-Blackfan anemia" EXACT [] xref: MIM:617408 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111894 name: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis def: "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/24942156/] synonym: "DBA15" EXACT OMO:0003012 [] xref: MIM:606164 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111895 name: Diamond-Blackfan anemia 1 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/9988267/] synonym: "DBA1" EXACT OMO:0003012 [] synonym: "RPS19-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567302 xref: MIM:105650 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111896 name: Diamond-Blackfan anemia 18 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33." [url:https\://pubmed.ncbi.nlm.nih.gov/28280134/] synonym: "DBA18" EXACT OMO:0003012 [] synonym: "RPL18-related Diamond-Blackfan anemia" EXACT [] xref: MIM:618310 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111897 name: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis def: "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22." [url:https\://pubmed.ncbi.nlm.nih.gov/11424144/, url:https\://pubmed.ncbi.nlm.nih.gov/24942156/] synonym: "DBA14" EXACT OMO:0003012 [] xref: MIM:300946 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111898 name: CK syndrome def: "A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/19377476/, url:https\://pubmed.ncbi.nlm.nih.gov/21129721/] subset: DO_rare_slim synonym: "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" EXACT [] xref: MIM:300831 xref: ORDO:251383 xref: SNOMEDCT_US_2023_03_01:773329005 xref: UMLS_CUI:C3151781 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0111899 name: X-linked thrombophilia due to factor IX defect def: "A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1." [url:https\://pubmed.ncbi.nlm.nih.gov/19846852/] synonym: "THPH8" EXACT OMO:0003012 [] xref: MESH:C567581 xref: MIM:300807 xref: UMLS_CUI:C2749016 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0111900 name: autosomal dominant thrombophilia due to protein S deficiency def: "A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1." [url:https\://pubmed.ncbi.nlm.nih.gov/6239102/, url:https\://pubmed.ncbi.nlm.nih.gov/7545463/, url:https\://pubmed.ncbi.nlm.nih.gov/7780139/] synonym: "THPH5" EXACT OMO:0003012 [] xref: MIM:612336 xref: UMLS_CUI:C3278211 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2451 ! protein S deficiency [Term] id: DOID:0111901 name: heparin cofactor II deficiency def: "A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/2647747/, url:https\://pubmed.ncbi.nlm.nih.gov/8562924/] synonym: "HCF 2 deficiency" EXACT [] synonym: "HCF II deficiency" EXACT [] synonym: "THPH10" EXACT OMO:0003012 [] synonym: "thrombophilia due to heparin cofactor II deficiency" EXACT [] xref: MESH:C562865 xref: MIM:612356 xref: SNOMEDCT_US_2023_03_01:234468009 xref: UMLS_CUI:C0398626 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0111902 name: thrombophilia due to activated protein C resistance def: "A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2." [url:https\://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia, url:https\://pubmed.ncbi.nlm.nih.gov/8164741/, url:https\://pubmed.ncbi.nlm.nih.gov/8430067/, url:https\://pubmed.ncbi.nlm.nih.gov/9454742/] synonym: "activated protein C resistance" EXACT [] synonym: "APC resistance" EXACT [] synonym: "PCCF deficiency" EXACT [] synonym: "PROC cofactor deficiency" EXACT [] synonym: "THPH2" EXACT OMO:0003012 [] synonym: "thrombophilia due to deficiency of activated protein C cofactor" EXACT [] synonym: "thrombophilia V" EXACT [] xref: MESH:C566056 xref: MIM:188055 xref: UMLS_CUI:C1861171 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0111903 name: thrombophilia due to HRG deficiency def: "A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3." [url:https\://pubmed.ncbi.nlm.nih.gov/8236132/, url:https\://pubmed.ncbi.nlm.nih.gov/9414276/] subset: DO_rare_slim synonym: "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency" EXACT [] synonym: "hereditary thrombophilia due to congenital HRG deficiency" EXACT [] synonym: "THPH11" EXACT OMO:0003012 [] xref: MIM:613116 xref: ORDO:217467 xref: UMLS_CUI:C2751090 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0111904 name: autosomal recessive thrombophilia due to protein C deficiency def: "A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3." [url:https\://pubmed.ncbi.nlm.nih.gov/10942114/, url:https\://pubmed.ncbi.nlm.nih.gov/6139528/] synonym: "autosomal recessive PROC deficiency" EXACT [] synonym: "autosomal recessive protein C deficiency" EXACT [] synonym: "THPH4" EXACT OMO:0003012 [] xref: MESH:C567353 xref: MIM:612304 xref: UMLS_CUI:C2676759 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3756 ! protein C deficiency [Term] id: DOID:0111905 name: autosomal recessive thrombophilia due to protein S deficiency def: "A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1." [url:https\://pubmed.ncbi.nlm.nih.gov/10063989/, url:https\://pubmed.ncbi.nlm.nih.gov/20484936/] subset: DO_rare_slim synonym: "autosomal recessive thrombophilia due to congenital protein S deficiency" EXACT [] synonym: "severe hereditary thrombophilia due to congenital protein S deficiency" EXACT [] synonym: "THPH6" EXACT OMO:0003012 [] xref: MIM:614514 xref: ORDO:743 xref: UMLS_CUI:C3281092 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2451 ! protein S deficiency [Term] id: DOID:0111906 name: thrombophilia due to decreased release of PLAT def: "A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls." [url:https\://pubmed.ncbi.nlm.nih.gov/12643326/, url:https\://pubmed.ncbi.nlm.nih.gov/665314/] synonym: "THPH9" EXACT OMO:0003012 [] xref: MESH:C567341 xref: MIM:612348 xref: UMLS_CUI:C2676721 is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0111907 name: thrombophilia due to thrombin defect def: "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/11570053/, url:https\://pubmed.ncbi.nlm.nih.gov/22716977/] subset: DO_rare_slim synonym: "prothrombin-related thrombophilia" EXACT [] synonym: "THPH1" EXACT OMO:0003012 [] synonym: "thrombophilia due to factor 2 defect" EXACT [] xref: GARD:10815 xref: MIM:188050 xref: UMLS_CUI:C3160733 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0111908 name: thrombophilia due to thrombomodulin defect def: "A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/22036808/] subset: DO_rare_slim synonym: "THBD-related bleeding disorder" EXACT [] synonym: "THBD-related coagulopathy" EXACT [] synonym: "THPH12" EXACT OMO:0003012 [] synonym: "thrombomodulin-related bleeding disorder" EXACT [] synonym: "thrombomodulin-related coagulopathy" EXACT [] xref: MESH:C566057 xref: MIM:614486 xref: ORDO:436169 xref: SNOMEDCT_US_2023_03_01:1197595004 xref: UMLS_CUI:C3280976 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0111909 name: autosomal dominant thrombophilia due to protein C deficiency def: "A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3." [url:https\://pubmed.ncbi.nlm.nih.gov/10942114/, url:https\://pubmed.ncbi.nlm.nih.gov/2437584/, url:https\://pubmed.ncbi.nlm.nih.gov/6547008/] synonym: "autosomal dominant PROC deficiency" EXACT [] synonym: "autosomal dominant protein C deficiency" EXACT [] synonym: "THPH3" EXACT OMO:0003012 [] xref: MESH:C567163 xref: MIM:176860 xref: UMLS_CUI:C2674321 is_a: DOID:3756 ! protein C deficiency [Term] id: DOID:0111910 name: spermatogenic failure def: "A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa." [url:https\://pubmed.ncbi.nlm.nih.gov/30656449/] synonym: "SPGF" EXACT OMO:0003012 [] xref: MIM:PS258150 is_a: DOID:12336 ! male infertility [Term] id: DOID:0111911 name: spermatogenic failure 34 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the FSIP2 gene on chromosome 2q32.1." [url:https\://pubmed.ncbi.nlm.nih.gov/30137358/] synonym: "SPGF34" EXACT OMO:0003012 [] xref: MIM:618153 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111912 name: spermatogenic failure 41 def: "A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP70 gene on chromosome 10q22.2." [url:https\://pubmed.ncbi.nlm.nih.gov/31621862/] synonym: "SPGF41" EXACT OMO:0003012 [] xref: MIM:618670 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111913 name: spermatogenic failure 30 def: "A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33." [url:https\://pubmed.ncbi.nlm.nih.gov/28536242/] synonym: "SPGF30" EXACT OMO:0003012 [] xref: MIM:618110 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111914 name: spermatogenic failure 35 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the QRICH2 gene on chromosome 17q25.1." [url:https\://pubmed.ncbi.nlm.nih.gov/30683861/] synonym: "SPGF35" EXACT OMO:0003012 [] xref: MIM:618341 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111915 name: spermatogenic failure 33 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the WDR66 gene on chromosome 12q24.31." [url:https\://pubmed.ncbi.nlm.nih.gov/30122540/] synonym: "SPGF33" EXACT OMO:0003012 [] xref: MIM:618152 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111916 name: spermatogenic failure 28 def: "A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/30075111/] synonym: "SPGF28" EXACT OMO:0003012 [] xref: MIM:618086 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111917 name: spermatogenic failure 43 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/31048344/, url:https\://pubmed.ncbi.nlm.nih.gov/31151990/] synonym: "SPGF43" EXACT OMO:0003012 [] xref: MIM:618751 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111918 name: spermatogenic failure 40 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35." [url:https\://pubmed.ncbi.nlm.nih.gov/31413122/] synonym: "SPGF40" EXACT OMO:0003012 [] xref: MIM:618664 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111919 name: spermatogenic failure 38 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC2 gene on chromosome 6q21." [url:https\://pubmed.ncbi.nlm.nih.gov/30686508/] synonym: "SPGF38" EXACT OMO:0003012 [] xref: MIM:618433 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111920 name: spermatogenic failure 25 def: "A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TEX15 gene on chromosome 8p12." [url:https\://pubmed.ncbi.nlm.nih.gov/26199321/] synonym: "SPGF25" EXACT OMO:0003012 [] xref: MIM:617960 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111921 name: spermatogenic failure 36 def: "A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in the PPP2R3C gene on chromosome 14q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/30893644/] synonym: "SPGF36" EXACT OMO:0003012 [] xref: MIM:618420 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111922 name: spermatogenic failure 31 def: "A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2." [url:https\://pubmed.ncbi.nlm.nih.gov/30032984/] synonym: "SPGF31" EXACT OMO:0003012 [] xref: MIM:618112 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa [Term] id: DOID:0111923 name: spermatogenic failure 42 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC29 gene on chromosome 4q31.22." [url:https\://pubmed.ncbi.nlm.nih.gov/31735292/, url:https\://pubmed.ncbi.nlm.nih.gov/31735294/] synonym: "SPGF42" EXACT OMO:0003012 [] xref: MIM:618745 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111924 name: spermatogenic failure 26 def: "A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in the TSGA10 gene on chromosome 2q11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/28905369/] synonym: "SPGF26" EXACT OMO:0003012 [] xref: MIM:617961 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa [Term] id: DOID:0111925 name: spermatogenic failure 32 def: "A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the SOHLH1 gene on chromosome 9q34.3." [url:https\://pubmed.ncbi.nlm.nih.gov/20506135/] synonym: "SPGF32" EXACT OMO:0003012 [] xref: MIM:618115 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111926 name: spermatogenic failure 39 def: "A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH17 gene on chromosome 17q25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/31178125/] synonym: "SPGF39" EXACT OMO:0003012 [] xref: MIM:618643 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111927 name: spermatogenic failure 37 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21A gene on chromosome 3p22.2." [url:https\://pubmed.ncbi.nlm.nih.gov/30929735/] synonym: "SPGF37" EXACT OMO:0003012 [] xref: MIM:618429 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111928 name: spermatogenic failure 27 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2." [url:https\://pubmed.ncbi.nlm.nih.gov/29365104/] synonym: "SPGF27" EXACT OMO:0003012 [] xref: MIM:617965 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111929 name: spermatogenic failure 24 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13." [url:https\://pubmed.ncbi.nlm.nih.gov/29606301/] synonym: "SPGF24" EXACT OMO:0003012 [] xref: MIM:617959 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111930 name: spermatogenic failure 29 def: "A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in the SPINK2 gene on chromosome 4q12." [url:https\://pubmed.ncbi.nlm.nih.gov/28554943/] synonym: "SPGF29" EXACT OMO:0003012 [] xref: MIM:618091 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111931 name: syndactyly-telecanthus-anogenital and renal malformations syndrome def: "A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/18297069/, url:https\://pubmed.ncbi.nlm.nih.gov/8818947/] subset: DO_rare_slim synonym: "STAR syndrome" EXACT [] synonym: "syndactyly with renal and anogenital malformations" EXACT [] synonym: "toe syndactyly, telecanthus, and anogenital and renal malformations" EXACT [] xref: GARD:10295 xref: MESH:C567475 xref: MIM:300707 xref: ORDO:140952 xref: SNOMEDCT_US_2023_03_01:723581006 xref: UMLS_CUI:C2678045 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111932 name: severe congenital encephalopathy due to MECP2 mutation def: "A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28." [url:https\://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy, url:https\://pubmed.ncbi.nlm.nih.gov/12615169/] subset: DO_rare_slim subset: NCIthesaurus synonym: "neonatal severe encephalopathy due to MECP2 mutations" EXACT [] synonym: "severe neonatal-onset encephalopathy with microcephaly" EXACT [] xref: MESH:C566878 xref: MIM:300673 xref: NCI:C132293 xref: ORDO:209370 xref: SNOMEDCT_US_2023_03_01:711487002 xref: UMLS_CUI:C1968556 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:936 ! brain disease [Term] id: DOID:0111933 name: phosphoglycerate kinase 1 deficiency def: "A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1." [url:https\://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency, url:https\://pubmed.ncbi.nlm.nih.gov/16567715/, url:https\://pubmed.ncbi.nlm.nih.gov/4230542/] subset: DO_rare_slim subset: NCIthesaurus synonym: "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" EXACT [] synonym: "glycogenosis due to phosphoglycerate kinase 1 deficiency" EXACT [] synonym: "GSD due to phosphoglycerate kinase 1 deficiency" EXACT [] synonym: "PGK1 deficiency" EXACT [] xref: GARD:7389 xref: MESH:C567067 xref: MIM:300653 xref: NCI:C126738 xref: ORDO:713 xref: UMLS_CUI:C1970848 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:4194 ! glucose metabolism disease [Term] id: DOID:0111934 name: immunodeficiency 38 def: "A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33." [url:https\://pubmed.ncbi.nlm.nih.gov/22859821/, url:https\://pubmed.ncbi.nlm.nih.gov/25307056/] subset: DO_rare_slim synonym: "autosomal recessive ISG15 deficiency" EXACT [] synonym: "IMD38" EXACT OMO:0003012 [] synonym: "immunodeficiency 38 with basal ganglia calcification" EXACT [] synonym: "immunodeficiency 38, mycobacteriosis, autosomal recessive" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency" EXACT [] xref: MIM:616126 xref: ORDO:319563 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111935 name: immunodeficiency 16 def: "A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33." [url:https\://pubmed.ncbi.nlm.nih.gov/20156905/, url:https\://pubmed.ncbi.nlm.nih.gov/23897980/] subset: DO_rare_slim synonym: "combined immunodeficiency due to OX40 deficiency" EXACT [] synonym: "combined immunodeficiency with childhood-onset Kaposi sarcoma" EXACT [] synonym: "combined immunodeficiency with impaired immunity to HHV-8" EXACT [] synonym: "combined immunodeficiency with impaired immunity to human herpes virus 8" EXACT [] synonym: "IMD16" EXACT OMO:0003012 [] synonym: "OX40 deficiency" EXACT [] xref: MIM:615593 xref: ORDO:431149 xref: UMLS_CUI:C3810053 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0111936 name: immunodeficiency 14 def: "A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22." [url:https\://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/24165795/] subset: DO_rare_slim subset: NCIthesaurus synonym: "activated PI3K-delta syndrome" EXACT [] synonym: "APDS" EXACT OMO:0003012 [] synonym: "IMD14" EXACT OMO:0003012 [] synonym: "PASLI disease" EXACT [] synonym: "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation" EXACT [] xref: GARD:11983 xref: MESH:C585640 xref: MIM:615513 xref: NCI:C187988 xref: ORDO:397596 xref: SNOMEDCT_US_2023_03_01:711480000 xref: UMLS_CUI:C3714976 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0111937 name: immunodeficiency 22 def: "A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2." [url:https\://pubmed.ncbi.nlm.nih.gov/9664084/] subset: DO_rare_slim subset: NCIthesaurus synonym: "IMD22" EXACT OMO:0003012 [] synonym: "SCID due to LCK deficiency" EXACT [] synonym: "SCID due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [] synonym: "severe combined immunodeficiency due to LCK deficiency" EXACT [] synonym: "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [] xref: MIM:615758 xref: NCI:C176808 xref: ORDO:280142 xref: UMLS_CUI:C4014233 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0111938 name: immunodeficiency 24 def: "A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2." [url:https\://pubmed.ncbi.nlm.nih.gov/24870241/] subset: DO_rare_slim synonym: "IMD24" EXACT OMO:0003012 [] synonym: "SCID due to CTPS1 deficiency" EXACT [] synonym: "severe combined immunodeficiency due to CTPS1 deficiency" EXACT [] xref: MIM:615897 xref: ORDO:420573 xref: UMLS_CUI:C4014617 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0111939 name: immunodeficiency 37 def: "A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3." [url:https\://pubmed.ncbi.nlm.nih.gov/25365219/] synonym: "IMD37" EXACT OMO:0003012 [] xref: MIM:616098 xref: UMLS_CUI:C4015195 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0111940 name: immunodeficiency 42 def: "A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/26160376/] subset: DO_rare_slim synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency" EXACT [] synonym: "autosomal recessive MSMD due to complete RORgamma receptor defiency" EXACT [] synonym: "autosomal recessive primary immunodeficiency due to RORC mutation" EXACT [] synonym: "IMD42" EXACT OMO:0003012 [] xref: MIM:616622 xref: ORDO:477857 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111941 name: immunodeficiency 20 def: "A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/23006327/] subset: DO_rare_slim synonym: "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity" EXACT [] synonym: "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity" EXACT [] synonym: "CD16 deficiency" EXACT [] synonym: "IMD20" EXACT OMO:0003012 [] xref: MIM:615707 xref: ORDO:437552 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111942 name: immunodeficiency 25 def: "A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2." [url:https\://pubmed.ncbi.nlm.nih.gov/16672702/] synonym: "IMD25" EXACT OMO:0003012 [] synonym: "immunodeficiency due to defect in CD3-zeta" EXACT [] xref: MESH:C565712 xref: MIM:610163 xref: UMLS_CUI:C1857798 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency [Term] id: DOID:0111943 name: immunodeficiency 48 def: "A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/2511270/] subset: DO_rare_slim synonym: "combined immunodeficiency due to ZAP70 deficiency" EXACT [] synonym: "IMD48" EXACT OMO:0003012 [] synonym: "zeta-associated-protein 70 deficiency" EXACT [] xref: GARD:387 xref: MESH:C537590 xref: MIM:269840 xref: ORDO:911 xref: UMLS_CUI:C1849236 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency [Term] id: DOID:0111944 name: immunodeficiency 31B def: "A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2." [url:https\://pubmed.ncbi.nlm.nih.gov/12590259/, url:https\://pubmed.ncbi.nlm.nih.gov/19084105/] subset: DO_rare_slim synonym: "autosomal recessive immunodeficiency 31B, mycobacterial and viral infections" EXACT [] synonym: "autosomal recessive STAT1 deficiency" EXACT [] synonym: "IMD31B" EXACT OMO:0003012 [] synonym: "predisposition to severe viral infection due to STAT1 deficiency" EXACT [] synonym: "susceptibility to viral and mycobacterial infections due to STAT1 deficiency" EXACT [] xref: MIM:613796 xref: ORDO:391311 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111945 name: immunodeficiency 31A def: "A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2." [url:https\://pubmed.ncbi.nlm.nih.gov/11452125/, url:https\://pubmed.ncbi.nlm.nih.gov/19084105/] subset: DO_rare_slim synonym: "autosomal dominant immunodeficiency 31A, mycobacteriosis" EXACT [] synonym: "IMD31A" EXACT OMO:0003012 [] synonym: "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" EXACT [] synonym: "MSMD due to partial signal transducer and activator of transcription 1 deficiency" EXACT [] synonym: "MSMD due to partial STAT1 deficiency" EXACT [] xref: MIM:614892 xref: ORDO:319595 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111946 name: immunodeficiency 31C def: "A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2." [url:https\://pubmed.ncbi.nlm.nih.gov/21714643/, url:https\://pubmed.ncbi.nlm.nih.gov/23534974/, url:https\://pubmed.ncbi.nlm.nih.gov/23541320/] subset: DO_rare_slim synonym: "autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome" EXACT [] synonym: "autosomal dominant chronic mucocutaneous familial candidiasis" EXACT [] synonym: "autosomal dominant immunodeficiency 31C" EXACT [] synonym: "CANDF7" EXACT OMO:0003012 [] synonym: "familial candidiasis 7" EXACT [] synonym: "IMD31C" EXACT OMO:0003012 [] xref: MIM:614162 xref: ORDO:391487 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111947 name: immunodeficiency 21 def: "A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/21242295/, url:https\://pubmed.ncbi.nlm.nih.gov/21670465/, url:https\://pubmed.ncbi.nlm.nih.gov/24227816/] subset: DO_rare_slim subset: NCIthesaurus synonym: "combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections" EXACT [] synonym: "DCML" EXACT OMO:0003012 [] synonym: "dendritic cell, monocyte, B and NK lymphoid deficiency" EXACT [] synonym: "GATA2 deficiency" EXACT [] synonym: "IMD21" EXACT OMO:0003012 [] synonym: "monocyte-B-natural killer-dendritic cell deficiency syndrome" EXACT [] synonym: "monocytopenia and mycobacterial infection syndrome" EXACT [] synonym: "monocytopenia with susceptibility to infections" EXACT [] synonym: "MonoMAC" EXACT OMO:0003012 [] xref: GARD:10934 xref: MESH:D000077428 xref: MIM:614172 xref: NCI:C126349 xref: ORDO:228423 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111948 name: immunodeficiency 46 def: "A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29." [url:https\://pubmed.ncbi.nlm.nih.gov/26642240/] subset: DO_rare_slim synonym: "CID due to TFRC deficiency" EXACT [] synonym: "combined immunodeficiency due to TFRC deficiency" EXACT [] synonym: "IMD46" EXACT OMO:0003012 [] synonym: "TFRC-related combined immunodeficiency" EXACT [] xref: MIM:616740 xref: ORDO:476113 xref: SNOMEDCT_US_2023_09_01:1179288008 xref: UMLS_CUI:C5568133 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0111949 name: immunodeficiency 36 def: "A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/27221134/] subset: NCIthesaurus synonym: "activated phosphoinositide 3-kinase delta syndrome 2" EXACT [] synonym: "IMD36" EXACT OMO:0003012 [] xref: MIM:616005 xref: NCI:C176703 xref: UMLS_CUI:C4014934 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0111950 name: immunodeficiency 29 def: "A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3." [url:https\://pubmed.ncbi.nlm.nih.gov/19084105/, url:https\://pubmed.ncbi.nlm.nih.gov/9854038/] subset: DO_rare_slim synonym: "IL12B deficiency" EXACT [] synonym: "IMD29" EXACT OMO:0003012 [] synonym: "immunodeficiency 29, mycobacteriosis" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency" EXACT [] synonym: "MSMD due to complete IL12B deficiency" EXACT [] synonym: "MSMD due to complete interleukin 12B deficiency" EXACT [] xref: MIM:614890 xref: ORDO:319558 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111951 name: immunodeficiency 40 def: "A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1." [url:https\://pubmed.ncbi.nlm.nih.gov/26083206/] subset: DO_rare_slim subset: NCIthesaurus synonym: "DOCK2 deficiency" EXACT [] synonym: "IMD40" EXACT OMO:0003012 [] xref: GARD:12653 xref: MIM:616433 xref: NCI:C176799 xref: ORDO:447737 xref: SNOMEDCT_US_2023_03_01:1197479002 xref: UMLS_CUI:C4225328 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0111952 name: immunodeficiency 57 def: "A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2." [url:https\://pubmed.ncbi.nlm.nih.gov/30026316/] subset: DO_rare_slim synonym: "IMD57" EXACT OMO:0003012 [] synonym: "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome" EXACT [] synonym: "immunodeficiency 57 with autoinflammation" EXACT [] xref: MIM:618108 xref: ORDO:529977 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111953 name: immunodeficiency 23 def: "A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1." [url:https\://pubmed.ncbi.nlm.nih.gov/14981714/, url:https\://pubmed.ncbi.nlm.nih.gov/24589341/] subset: DO_rare_slim subset: NCIthesaurus synonym: "CID due to PGM3 deficiency" EXACT [] synonym: "combined immunodeficiency due to PGM3 deficiency" EXACT [] synonym: "IMD23" EXACT OMO:0003012 [] synonym: "PGM3-CDG" EXACT OMO:0003012 [] synonym: "PGM3-related congenital disorder of glycosylation" EXACT [] xref: GARD:4331 xref: MIM:615816 xref: NCI:C126339 xref: ORDO:443811 xref: SNOMEDCT_US_2023_03_01:1187623009 xref: UMLS_CUI:C4014371 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0111954 name: immunodeficiency 60 def: "A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15." [url:https\://pubmed.ncbi.nlm.nih.gov/28530713/] synonym: "BACH2-related immunodeficiency and autoimmunity" EXACT [] synonym: "BRIDA" EXACT OMO:0003012 [] synonym: "IMD60" EXACT OMO:0003012 [] xref: MIM:618394 xref: UMLS_CUI:C5193072 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0111955 name: immunodeficiency 27A def: "A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/19084105/, url:https\://pubmed.ncbi.nlm.nih.gov/8960473/, url:https\://pubmed.ncbi.nlm.nih.gov/8960475/] subset: DO_rare_slim synonym: "autosomal recessive IFNGR1 deficiency" EXACT [] synonym: "autosomal recessive immunodeficiency 27A, mycobacteriosis" EXACT [] synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" EXACT [] synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT [] synonym: "autosomal recessive MSMD due to partial IFNgammaR1 deficiency" EXACT [] synonym: "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [] synonym: "IMD27A" EXACT OMO:0003012 [] xref: MESH:C535530 xref: MIM:209950 xref: ORDO:319569 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111956 name: immunodeficiency 27B def: "A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/10192386/, url:https\://pubmed.ncbi.nlm.nih.gov/19084105/] subset: DO_rare_slim synonym: "autosomal dominant IFNGR1 deficiency" EXACT [] synonym: "autosomal dominant immunodeficiency 27B, mycobacteriosis" EXACT [] synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" EXACT [] synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT [] synonym: "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" EXACT [] synonym: "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [] synonym: "IMD27B" EXACT OMO:0003012 [] xref: MIM:615978 xref: ORDO:319581 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111957 name: immunodeficiency 11A def: "A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2." [url:https\://pubmed.ncbi.nlm.nih.gov/23374270/, url:https\://pubmed.ncbi.nlm.nih.gov/23561803/] subset: DO_rare_slim synonym: "CARD11 deficiency" EXACT [] synonym: "IMD11A" EXACT OMO:0003012 [] synonym: "SCID due to CARD11 deficiency" EXACT [] synonym: "severe combined immunodeficiency due to CARD11 deficiency" EXACT [] xref: MIM:615206 xref: ORDO:357237 xref: UMLS_CUI:C3554686 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0111958 name: immunodeficiency 11B def: "A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2." [url:https\://pubmed.ncbi.nlm.nih.gov/28628108/] subset: NCIthesaurus synonym: "atopic dermatitis, elevated IgE, and eosinophilia" EXACT [] synonym: "IMD11B" EXACT OMO:0003012 [] synonym: "immunodeficiency 11B with atopic dermatitis" EXACT [] xref: MIM:617638 xref: NCI:C176630 xref: UMLS_CUI:C4539957 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11200 ! T cell deficiency [Term] id: DOID:0111959 name: immunodeficiency 15B def: "A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/24369075/] synonym: "IMD15B" EXACT OMO:0003012 [] xref: MIM:615592 xref: UMLS_CUI:C4747743 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0111960 name: immunodeficiency 15A def: "A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/30337470/] synonym: "IMD15A" EXACT OMO:0003012 [] xref: MIM:618204 xref: UMLS_CUI:C4748694 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0111961 name: immunodeficiency 26 def: "A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/19075392/, url:https\://pubmed.ncbi.nlm.nih.gov/23722905/] subset: DO_rare_slim subset: NCIthesaurus synonym: "IMD26" EXACT OMO:0003012 [] synonym: "immunodeficiency 26, with or without neurologic abnormalities" EXACT [] synonym: "SCID due to DNA-PKcs deficiency" EXACT [] synonym: "severe combined immunodeficiency due to DNA-PKcs deficiency" EXACT [] xref: MIM:615966 xref: NCI:C176795 xref: ORDO:317425 xref: UMLS_CUI:C4014833 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0111962 name: combined immunodeficiency def: "A primary immunodeficiency disease that involves multiple components of the immune system." [url:https\://pubmed.ncbi.nlm.nih.gov/32048120/] subset: NCIthesaurus xref: NCI:C27871 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111963 name: dendritic cell deficiency def: "A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells." [url:https\://www.ncbi.nlm.nih.gov/books/NBK27092/] is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111964 name: B cell and dendritic cell deficiency def: "A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells." [url:https\://www.ncbi.nlm.nih.gov/books/NBK27092/] is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:0111965 name: T cell, B cell, and NK cell deficiency def: "A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells." [url:https\://www.ncbi.nlm.nih.gov/books/NBK27092/] is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:0111966 name: monocyte, dendritic cell, and NK cell deficiency def: "A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells." [url:https\://www.ncbi.nlm.nih.gov/books/NBK27092/] is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:0111967 name: immunodeficiency 54 def: "An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/16532402/, url:https\://pubmed.ncbi.nlm.nih.gov/22354167/] subset: DO_rare_slim subset: NCIthesaurus synonym: "familial isolated natural killer cell deficiency" EXACT [] synonym: "IMD54" EXACT OMO:0003012 [] synonym: "NKCD" EXACT OMO:0003012 [] synonym: "primary immunodeficiency due to MCM4 deficiency" EXACT [] synonym: "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" EXACT [] xref: MESH:C566492 xref: MIM:609981 xref: NCI:C123729 xref: ORDO:75391 xref: UMLS_CUI:C1864947 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080709 ! NK cell deficiency [Term] id: DOID:0111968 name: immunodeficiency 41 def: "A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1." [url:https\://pubmed.ncbi.nlm.nih.gov/23416241/, url:https\://pubmed.ncbi.nlm.nih.gov/9096364/] subset: DO_rare_slim synonym: "CD25 deficiency" EXACT [] synonym: "IL2RA deficiency" EXACT [] synonym: "IMD41" EXACT OMO:0003012 [] synonym: "immunodeficiency 41 with lymphoproliferation and autoimmunity" EXACT [] synonym: "immunodeficiency due to CD25 deficiency" EXACT [] synonym: "interleukin-2 receptor alpha chain deficiency" EXACT [] xref: MESH:C565232 xref: MIM:606367 xref: ORDO:169100 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:0111969 name: immunodeficiency 39 def: "A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5." [url:https\://pubmed.ncbi.nlm.nih.gov/25814066/] synonym: "IMD39" EXACT OMO:0003012 [] xref: MIM:616345 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111970 name: immunodeficiency 10 def: "A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4." [url:https\://pubmed.ncbi.nlm.nih.gov/26560041/] subset: DO_rare_slim synonym: "CID due to STIM1 deficiency" EXACT [] synonym: "combined immunodeficiency due to STIM1 deficiency" EXACT [] synonym: "IMD10" EXACT OMO:0003012 [] synonym: "immune dysfunction with T-cell inactivation due to calcium entry defect 2" EXACT [] synonym: "STIM1 deficiency" EXACT [] xref: MESH:C557827 xref: MIM:612783 xref: ORDO:317430 xref: UMLS_CUI:C2748557 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080710 ! T cell and NK cell immunodeficiency [Term] id: DOID:0111971 name: immunodeficiency 18 def: "A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/15546002/, url:https\://pubmed.ncbi.nlm.nih.gov/8490660/] synonym: "CD3-epsilon deficiency" EXACT [] synonym: "IMD18" EXACT OMO:0003012 [] xref: MIM:615615 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111972 name: immunodeficiency 19 def: "A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/14602880/, url:https\://pubmed.ncbi.nlm.nih.gov/21883749/] synonym: "CD3-delta deficiency" EXACT [] synonym: "IMD19" EXACT OMO:0003012 [] synonym: "SCID T cell-negative, B cell-positive, NK cell-positive" EXACT [] synonym: "severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive" EXACT [] xref: MIM:615617 xref: UMLS_CUI:C3810147 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0111973 name: immunodeficiency 17 def: "A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/1635567/, url:https\://pubmed.ncbi.nlm.nih.gov/17277165/, url:https\://pubmed.ncbi.nlm.nih.gov/8325321/] synonym: "CD3-gamma deficiency" EXACT [] synonym: "IMD17" EXACT OMO:0003012 [] synonym: "immunodeficiency 17, CD3 gamma deficient" EXACT [] synonym: "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive" EXACT [] xref: MIM:615607 xref: UMLS_CUI:C3810107 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency [Term] id: DOID:0111974 name: immunodeficiency 59 def: "A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/27913302/] synonym: "granulocytopenia with immunoglobin abnormality" EXACT [] synonym: "IMD59" EXACT OMO:0003012 [] synonym: "immunodeficiency 59 and hypoglycemia" EXACT [] xref: MESH:C565535 xref: MIM:233600 xref: UMLS_CUI:C1856263 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111964 ! B cell and dendritic cell deficiency [Term] id: DOID:0111975 name: immunodeficiency 44 def: "A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/23391734/, url:https\://pubmed.ncbi.nlm.nih.gov/26122121/] synonym: "IMD44" EXACT OMO:0003012 [] xref: MIM:616636 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111976 name: immunodeficiency 9 def: "A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31." [url:https\://pubmed.ncbi.nlm.nih.gov/16582901/, url:https\://pubmed.ncbi.nlm.nih.gov/20004786/] subset: DO_rare_slim synonym: "CID due to ORAI1 deficiency" EXACT [] synonym: "combined immunodeficiency due to ORAI1 deficiency" EXACT [] synonym: "IMD9" EXACT OMO:0003012 [] synonym: "immune dysfunction with T-cell inactivation due to calcium entry defect 1" EXACT [] xref: MESH:C557826 xref: MIM:612782 xref: ORDO:317428 xref: UMLS_CUI:C2748568 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency [Term] id: DOID:0111977 name: immunodeficiency 7 def: "A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/21206088/] subset: DO_rare_slim synonym: "IMD7" EXACT OMO:0003012 [] synonym: "immunodeficiency 7, TCR-alpha/beta deficient" EXACT [] synonym: "TCR-alpha-beta-positive T-cell deficiency" EXACT [] xref: MIM:615387 xref: ORDO:397959 xref: UMLS_CUI:C3809332 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency [Term] id: DOID:0111978 name: immunodeficiency 65 def: "A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12." [url:https\://pubmed.ncbi.nlm.nih.gov/30143481/, url:https\://pubmed.ncbi.nlm.nih.gov/30826365/] synonym: "IMD65" EXACT OMO:0003012 [] synonym: "immunodeficiency 65, susceptibility to viral infections" EXACT [] xref: MIM:618648 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111979 name: immunodeficiency 49 def: "A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2." [url:https\://pubmed.ncbi.nlm.nih.gov/27959755/, url:https\://pubmed.ncbi.nlm.nih.gov/29985992/] synonym: "IMD49" EXACT OMO:0003012 [] synonym: "SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities" EXACT [] synonym: "severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities" EXACT [] xref: MIM:617237 xref: UMLS_CUI:C4310656 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11200 ! T cell deficiency [Term] id: DOID:0111980 name: immunodeficiency 64 def: "A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14." [url:https\://pubmed.ncbi.nlm.nih.gov/27776107/, url:https\://pubmed.ncbi.nlm.nih.gov/29155103/, url:https\://pubmed.ncbi.nlm.nih.gov/29282224/] synonym: "IMD64" EXACT OMO:0003012 [] xref: MIM:618534 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111965 ! T cell, B cell, and NK cell deficiency [Term] id: DOID:0111981 name: immunodeficiency 43 def: "A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1." [url:https\://pubmed.ncbi.nlm.nih.gov/16549777/, url:https\://pubmed.ncbi.nlm.nih.gov/25702838/] synonym: "B2M deficiency" EXACT [] synonym: "beta-2-microglobulin deficiency" EXACT [] synonym: "hypercatabolic hypoproteinemia" EXACT [] synonym: "IMD43" EXACT OMO:0003012 [] xref: MESH:C565476 xref: MIM:241600 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111982 name: immunodeficiency 56 def: "A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1." [url:https\://pubmed.ncbi.nlm.nih.gov/23440042/] subset: DO_rare_slim synonym: "combined immunodeficiency due to IL21R deficiency" EXACT [] synonym: "IL21R immunodeficiency" EXACT [] synonym: "IMD56" EXACT OMO:0003012 [] xref: MIM:615207 xref: ORDO:357329 xref: UMLS_CUI:C3554687 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0111983 name: immunodeficiency 52 def: "A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/27242165/, url:https\://pubmed.ncbi.nlm.nih.gov/27522155/] subset: DO_rare_slim synonym: "IMD52" EXACT OMO:0003012 [] synonym: "severe combined immunodeficiency due to LAT deficiency" EXACT [] xref: MIM:617514 xref: ORDO:504523 xref: SNOMEDCT_US_2023_03_01:1179284005 xref: UMLS_CUI:C4479588 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency [Term] id: DOID:0111984 name: immunodeficiency 58 def: "A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/27647349/, url:https\://pubmed.ncbi.nlm.nih.gov/29479355/] subset: DO_rare_slim synonym: "IMD58" EXACT OMO:0003012 [] synonym: "severe combined immunodeficiency due to CARMIL2 deficiency" EXACT [] xref: MIM:618131 xref: ORDO:542301 xref: UMLS_CUI:C4748304 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0111985 name: immunodeficiency 32B def: "A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1." [url:https\://pubmed.ncbi.nlm.nih.gov/27893462/, url:https\://pubmed.ncbi.nlm.nih.gov/6279813/] synonym: "autosomal recessive IRF8 deficiency" EXACT [] synonym: "IMD32B" EXACT OMO:0003012 [] synonym: "immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive" EXACT [] xref: MIM:226990 xref: UMLS_CUI:C4016741 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111966 ! monocyte, dendritic cell, and NK cell deficiency [Term] id: DOID:0111986 name: immunodeficiency 32A def: "A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1." [url:https\://pubmed.ncbi.nlm.nih.gov/21524210/] subset: DO_rare_slim synonym: "IMD32A" EXACT OMO:0003012 [] synonym: "immunodeficiency 32A, mycobacteriosis, autosomal dominant" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency" EXACT [] synonym: "MSMD due to partial interferon regulatory factor 8 deficiency" EXACT [] synonym: "MSMD due to partial IRF8 deficiency" EXACT [] xref: MIM:614893 xref: ORDO:319600 xref: UMLS_CUI:C3808589 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111963 ! dendritic cell deficiency [Term] id: DOID:0111987 name: immunodeficiency 13 def: "A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/22184408/] subset: DO_rare_slim synonym: "ICL" EXACT OMO:0003012 [] synonym: "idiopathic CD4 lymphopenia" EXACT [] synonym: "IMD13" EXACT OMO:0003012 [] xref: GARD:12375 xref: MIM:615518 xref: ORDO:228000 xref: UMLS_CUI:C3809768 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11200 ! T cell deficiency [Term] id: DOID:0111988 name: immunodeficiency 12 def: "A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32." [url:https\://pubmed.ncbi.nlm.nih.gov/23727036/, url:https\://pubmed.ncbi.nlm.nih.gov/24332264/] subset: DO_rare_slim synonym: "combined immunodeficiency due to MALT1 deficiency" EXACT [] synonym: "IMD12" EXACT OMO:0003012 [] xref: MIM:615468 xref: ORDO:397964 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:0111989 name: immunodeficiency 35 def: "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/26304966/] subset: DO_rare_slim synonym: "autosomal recessiv HIES with atypical mycobacteriosis" EXACT [] synonym: "autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis" EXACT [] synonym: "IMD35" EXACT OMO:0003012 [] synonym: "susceptibility to infection due to TYK2 deficiency" EXACT [] synonym: "TYK2 deficiency" EXACT [] synonym: "tyrosine kinase 2 deficiency" EXACT [] xref: MESH:C566928 xref: MIM:611521 xref: ORDO:331226 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111990 name: immunodeficiency 30 def: "A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11." [url:https\://pubmed.ncbi.nlm.nih.gov/19084105/, url:https\://pubmed.ncbi.nlm.nih.gov/9603732/, url:https\://pubmed.ncbi.nlm.nih.gov/9603733/] subset: DO_rare_slim subset: NCIthesaurus synonym: "IMD30" EXACT OMO:0003012 [] synonym: "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" EXACT [] synonym: "MSMD due to complete IL12RB1 deficiency" EXACT [] synonym: "MSMD due to complete interleukin 12 receptor beta 1 deficiency" EXACT [] xref: MIM:614891 xref: NCI:C176800 xref: ORDO:319552 xref: UMLS_CUI:C4013949 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080710 ! T cell and NK cell immunodeficiency [Term] id: DOID:0111991 name: immunodeficiency 62 def: "A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/30521495/] synonym: "IMD62" EXACT OMO:0003012 [] xref: MIM:618459 xref: UMLS_CUI:C5193109 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2115 ! B cell deficiency [Term] id: DOID:0111992 name: immunodeficiency 53 def: "A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32." [url:https\://pubmed.ncbi.nlm.nih.gov/26385063/] synonym: "IMD53" EXACT OMO:0003012 [] xref: MIM:617585 xref: UMLS_CUI:C4539811 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0111993 name: immunodeficiency 55 def: "A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/28414293/] subset: DO_rare_slim synonym: "combined immunodeficiency due to GINS1 deficiency" EXACT [] synonym: "IMD55" EXACT OMO:0003012 [] xref: MIM:617827 xref: ORDO:505227 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:0111994 name: immunodeficiency 45 def: "A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11." [url:https\://pubmed.ncbi.nlm.nih.gov/26424569/] synonym: "IMD45" EXACT OMO:0003012 [] xref: MIM:616669 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111995 name: immunodeficiency 28 def: "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11." [url:https\://pubmed.ncbi.nlm.nih.gov/11335769/, url:https\://pubmed.ncbi.nlm.nih.gov/19084105/] subset: DO_rare_slim synonym: "IFNGR2 deficiency" EXACT [] synonym: "IMD28" EXACT OMO:0003012 [] synonym: "immunodeficiency 28, mycobacteriosis" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency" EXACT [] synonym: "MSMD due to complete IFNgammaR2 deficiency" EXACT [] synonym: "MSMD due to complete interferon gamma receptor 2 deficiency" EXACT [] xref: MIM:614889 xref: ORDO:319547 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111996 name: immunodeficiency 51 def: "A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1." [url:https\://pubmed.ncbi.nlm.nih.gov/27930337/] synonym: "CANDF5" EXACT OMO:0003012 [] synonym: "familial candidiasis 5" EXACT [] synonym: "IMD51" EXACT OMO:0003012 [] xref: MIM:613953 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111997 name: immunodeficiency 63 def: "A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3." [url:https\://pubmed.ncbi.nlm.nih.gov/31040184/, url:https\://pubmed.ncbi.nlm.nih.gov/31040185/] synonym: "IL2RB deficiency" EXACT [] synonym: "IMD63" EXACT OMO:0003012 [] synonym: "immunodeficiency 63 with lymphoproliferation and autoimmunity" EXACT [] xref: MIM:618495 xref: UMLS_CUI:C5193126 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080710 ! T cell and NK cell immunodeficiency [Term] id: DOID:0111998 name: immunodeficiency 66 def: "A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/26224645/] synonym: "IMD66" EXACT OMO:0003012 [] xref: MIM:618847 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0111999 name: immunodeficiency 61 def: "A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12." [url:https\://pubmed.ncbi.nlm.nih.gov/29636373/] synonym: "IMD61" EXACT OMO:0003012 [] xref: MESH:C538057 xref: MIM:300310 xref: UMLS_CUI:C1845903 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2115 ! B cell deficiency [Term] id: DOID:0112000 name: immunodeficiency 34 def: "A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4." [url:https\://pubmed.ncbi.nlm.nih.gov/17293536/, url:https\://pubmed.ncbi.nlm.nih.gov/21278736/] synonym: "AMCBX2" EXACT OMO:0003012 [] synonym: "familial atypical mycobacteriosis X-linked 2" EXACT [] synonym: "IMD34" EXACT OMO:0003012 [] synonym: "immunodeficiency 34, mycobacteriosis, X-linked" EXACT [] synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency" EXACT [] synonym: "X-linked MSMD due to CYBB deficiency" EXACT [] xref: MESH:C567068 xref: MIM:300645 xref: UMLS_CUI:C1970859 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:3262 ! phagocyte bactericidal dysfunction [Term] id: DOID:0112001 name: immunodeficiency 50 def: "A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12." [url:https\://pubmed.ncbi.nlm.nih.gov/27405666/] subset: DO_rare_slim synonym: "CID due to Moesin deficiency" EXACT [] synonym: "combined immunodeficiency due to Moesin deficiency" EXACT [] synonym: "IMD50" EXACT OMO:0003012 [] synonym: "immunodeficiency 50 X linked recessive" EXACT [] synonym: "MSN-related combined immunodeficiency" EXACT [] synonym: "X-linked Moesin-associated immunodeficiency" EXACT [] xref: MIM:300988 xref: ORDO:504530 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:0112002 name: immunodeficiency 47 def: "A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/27231034/] synonym: "CDG IIs" EXACT OMO:0003012 [] synonym: "CDG2S" EXACT OMO:0003012 [] synonym: "CDGIIs" EXACT OMO:0003012 [] synonym: "congenital disorder of glycosylation type IIs" EXACT [] synonym: "IMD47" EXACT OMO:0003012 [] synonym: "immunodeficiency and hepatopathy with or without neurologic features" EXACT [] xref: MIM:300972 xref: UMLS_CUI:C4310819 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0112003 name: immunodeficiency 33 def: "A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/15356572/, url:https\://pubmed.ncbi.nlm.nih.gov/31965418/] synonym: "IMD33" EXACT OMO:0003012 [] synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency" EXACT [] synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency" EXACT [] synonym: "X-linked MSMD due to IKBKG deficiency" EXACT [] synonym: "X-linked MSMD due to NEMO deficiency" EXACT [] xref: MESH:C567070 xref: MIM:300636 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:0112004 name: immunodeficiency 71 def: "A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/30254128/] synonym: "IMD71" EXACT OMO:0003012 [] synonym: "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia" EXACT [] synonym: "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" EXACT [] synonym: "PLTEID" EXACT OMO:0003012 [] xref: MIM:617718 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:0112005 name: immunodeficiency 70 def: "A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/32499645/] synonym: "IMD70" EXACT OMO:0003012 [] xref: MIM:618969 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0112006 name: immunodeficiency 69 def: "A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15." [url:https\://pubmed.ncbi.nlm.nih.gov/32163377/] synonym: "IMD69" EXACT OMO:0003012 [] xref: MIM:618963 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080710 ! T cell and NK cell immunodeficiency [Term] id: DOID:0112007 name: growth hormone secreting pituitary adenoma 2 def: "A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3." [url:https\://pubmed.ncbi.nlm.nih.gov/25470569/, url:https\://pubmed.ncbi.nlm.nih.gov/25806920/] synonym: "acromegaly due to pituitary adenoma 2" EXACT [] synonym: "GH-secreting pituitary adenoma 2" EXACT [] synonym: "PITA2" EXACT OMO:0003012 [] synonym: "X-linked acromegaly" EXACT [] xref: MIM:300943 is_a: DOID:6255 ! growth hormone secreting pituitary adenoma [Term] id: DOID:0112008 name: pituitary adenoma 5 def: "A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/28413019/] synonym: "PITA5" EXACT OMO:0003012 [] synonym: "pituitary adenoma 5, multiple types" EXACT [] xref: MIM:617540 is_a: DOID:3829 ! pituitary adenoma [Term] id: DOID:0112009 name: pituitary adenoma 1 def: "A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/16728643/, url:https\://pubmed.ncbi.nlm.nih.gov/17360484/] synonym: "PITA1" EXACT OMO:0003012 [] synonym: "pituitary adenoma 1, multiple types" EXACT [] xref: MIM:102200 is_a: DOID:3829 ! pituitary adenoma [Term] id: DOID:0112010 name: pituitary adenoma 3 def: "A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32." [url:https\://pubmed.ncbi.nlm.nih.gov/28766057/, url:https\://pubmed.ncbi.nlm.nih.gov/9589663/] synonym: "PITA3" EXACT OMO:0003012 [] synonym: "pituitary adenoma 3, multiple types" EXACT [] xref: MIM:617686 is_a: DOID:3829 ! pituitary adenoma [Term] id: DOID:0112011 name: mutilating palmoplantar keratoderma with periorificial keratotic plaques def: "A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions." [url:https\://pubmed.ncbi.nlm.nih.gov/16227106/, url:https\://pubmed.ncbi.nlm.nih.gov/17367233/, url:https\://pubmed.ncbi.nlm.nih.gov/22405088/] subset: DO_rare_slim synonym: "mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques" EXACT [] synonym: "OLMS" EXACT OMO:0003012 [] synonym: "Olmsted syndrome" EXACT [] synonym: "palmoplantar and periorificial keratoderma" EXACT [] xref: GARD:4075 xref: MEDDRA:10068842 xref: ORDO:659 is_a: DOID:161 ! keratosis [Term] id: DOID:0112012 name: X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques def: "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12." [url:https\://pubmed.ncbi.nlm.nih.gov/17367233/, url:https\://pubmed.ncbi.nlm.nih.gov/24313295/] synonym: "OLMSX" EXACT OMO:0003012 [] synonym: "X-linked Olmsted syndrome" EXACT [] xref: MIM:300918 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112011 ! mutilating palmoplantar keratoderma with periorificial keratotic plaques [Term] id: DOID:0112013 name: autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques def: "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/22405088/, url:https\://pubmed.ncbi.nlm.nih.gov/24452206/] synonym: "autosomal dominant Olmsted syndrome" EXACT [] synonym: "OLMS1" EXACT OMO:0003012 [] synonym: "Olmsted syndrome 1" EXACT [] xref: MIM:614594 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112011 ! mutilating palmoplantar keratoderma with periorificial keratotic plaques [Term] id: DOID:0112014 name: congenital megabladder def: "A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12." [url:https\://pubmed.ncbi.nlm.nih.gov/31513549/] synonym: "MGBL" EXACT OMO:0003012 [] xref: MIM:618719 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:365 ! bladder disease [Term] id: DOID:0112015 name: immunodeficiency 72 def: "A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/32647003/] synonym: "immunodeficiency 72 with autoinflammation" EXACT [] xref: MIM:618982 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:0112016 name: non-syndromic X-linked intellectual disability 2 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3." [url:https\://pubmed.ncbi.nlm.nih.gov/2602357/, url:https\://pubmed.ncbi.nlm.nih.gov/6839531/] synonym: "MRX2" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 2" EXACT [] xref: MIM:300428 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0112017 name: non-syndromic X-linked intellectual disability 73 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2." [url:https\://pubmed.ncbi.nlm.nih.gov/11477616/] synonym: "MRX73" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 73" EXACT [] xref: MIM:300355 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112018 name: non-syndromic X-linked intellectual disability 104 def: "A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2." [url:https\://pubmed.ncbi.nlm.nih.gov/25644381/] synonym: "MRX104" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 104" EXACT [] xref: MIM:300983 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112019 name: non-syndromic X-linked intellectual disability 19 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12." [url:https\://pubmed.ncbi.nlm.nih.gov/17100996/] synonym: "MRX19" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 19" EXACT [] xref: MIM:300844 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0112020 name: non-syndromic X-linked intellectual disability 103 def: "A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11." [url:https\://pubmed.ncbi.nlm.nih.gov/24817631/, url:https\://pubmed.ncbi.nlm.nih.gov/25644381/] synonym: "MRX103" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 103" EXACT [] xref: MIM:300982 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112021 name: non-syndromic X-linked intellectual disability ARX-related def: "A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/10398246/, url:https\://pubmed.ncbi.nlm.nih.gov/17480217/] subset: DO_rare_slim synonym: "ARX-related intellectual disability" EXACT [] synonym: "MRXARX" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 29" EXACT [] synonym: "X-linked mental retardation 29 and others" EXACT [] synonym: "X-linked mental retardation 32" EXACT [] synonym: "X-linked mental retardation 33" EXACT [] synonym: "X-linked mental retardation 38" EXACT [] synonym: "X-linked mental retardation 43" EXACT [] synonym: "X-linked mental retardation 52" EXACT [] synonym: "X-linked mental retardation 54" EXACT [] synonym: "X-linked mental retardation 76" EXACT [] synonym: "X-linked mental retardation 87" EXACT [] synonym: "X-linked mental retardation with or without seizures ARX-related" EXACT [] xref: GARD:5614 xref: MIM:300419 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112022 name: non-syndromic X-linked intellectual disability 21 def: "A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/18801879/] synonym: "MRX21" EXACT OMO:0003012 [] synonym: "MRX34" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 21" EXACT [] synonym: "X-linked mental retardation 21/34" EXACT [] synonym: "X-linked mental retardation 34" EXACT [] xref: MIM:300143 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112023 name: non-syndromic X-linked intellectual disability 20 def: "A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21." [url:https\://pubmed.ncbi.nlm.nih.gov/7573127/] synonym: "MRX20" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 20" EXACT [] xref: MIM:300047 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability [Term] id: DOID:0112024 name: non-syndromic X-linked intellectual disability 58 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4." [url:https\://pubmed.ncbi.nlm.nih.gov/10449641/, url:https\://pubmed.ncbi.nlm.nih.gov/12070254/] synonym: "MRX58" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 58" EXACT [] xref: MIM:300210 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112025 name: female-restricted syndromic X-linked intellectual disability 99 def: "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4." [url:https\://pubmed.ncbi.nlm.nih.gov/26833328/] subset: DO_rare_slim synonym: "female-restricted syndromic X-linked mental retardation 99" EXACT [] synonym: "MRXS99F" EXACT OMO:0003012 [] synonym: "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability" EXACT [] xref: GARD:13638 xref: MIM:300968 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0112026 name: non-syndromic X-linked intellectual disability 99 def: "A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4." [url:https\://pubmed.ncbi.nlm.nih.gov/24607389/] synonym: "MRX99" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 99" EXACT [] xref: MIM:300919 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112027 name: non-syndromic X-linked intellectual disability 14 def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/8026106/] subset: DO_rare_slim synonym: "MRX14" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 14" EXACT [] xref: GARD:8557 xref: MIM:300062 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability [Term] id: DOID:0112028 name: non-syndromic X-linked intellectual disability 45 def: "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/10398246/] synonym: "MRX45" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 45" EXACT [] xref: MIM:300498 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability [Term] id: DOID:0112029 name: non-syndromic X-linked intellectual disability 50 def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/9415477/] synonym: "MRX50" EXACT OMO:0003012 [] synonym: "X-linked intellectual developmental disorder 50" EXACT [] synonym: "X-linked mental retardation 50" EXACT [] synonym: "XLID50" EXACT OMO:0003012 [] xref: MIM:300115 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability [Term] id: DOID:0112030 name: non-syndromic X-linked intellectual disability 84 def: "A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3." [url:https\://pubmed.ncbi.nlm.nih.gov/15326629/] synonym: "MRX84" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 84" EXACT [] xref: MIM:300505 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112031 name: non-syndromic X-linked intellectual disability 89 def: "A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3." [url:https\://pubmed.ncbi.nlm.nih.gov/14628291/, url:https\://pubmed.ncbi.nlm.nih.gov/23871722/] synonym: "MRX89" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 89" EXACT [] xref: MIM:300848 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0112032 name: non-syndromic X-linked intellectual disability 92 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3." [url:https\://pubmed.ncbi.nlm.nih.gov/16385466/, url:https\://pubmed.ncbi.nlm.nih.gov/23871722/] synonym: "MRX92" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 92" EXACT [] xref: MIM:300851 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112033 name: non-syndromic X-linked intellectual disability 81 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12." [url:https\://pubmed.ncbi.nlm.nih.gov/12673650/] synonym: "MRX81" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 81" EXACT [] xref: MIM:300433 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112034 name: non-syndromic X-linked intellectual disability 9 def: "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/10398246/, url:https\://pubmed.ncbi.nlm.nih.gov/15162322/] synonym: "MRX44" EXACT OMO:0003012 [] synonym: "MRX9" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 44" EXACT [] synonym: "X-linked mental retardation 9" EXACT [] xref: MIM:309549 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112035 name: non-syndromic X-linked intellectual disability 96 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disabillity that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/19377476/] synonym: "MRX96" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 96" EXACT [] xref: MIM:300802 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112036 name: non-syndromic X-linked intellectual disability 105 def: "A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/25644381/] synonym: "MRX105" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 105" EXACT [] xref: MIM:300984 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112037 name: chromosome Xp11.22 duplication syndrome def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes." [url:https\://pubmed.ncbi.nlm.nih.gov/22840365/, url:https\://pubmed.ncbi.nlm.nih.gov/7943039/] synonym: "MRX17" EXACT OMO:0003012 [] synonym: "MRX31" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 17" EXACT [] synonym: "X-linked mental retardation 31" EXACT [] synonym: "Xp11.22 microduplication syndrome" EXACT [] xref: MIM:300705 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability [Term] id: DOID:0112038 name: non-syndromic X-linked intellectual disability 1 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22." [url:https\://pubmed.ncbi.nlm.nih.gov/20473311/, url:https\://pubmed.ncbi.nlm.nih.gov/3177466/] subset: DO_rare_slim synonym: "MRX1" EXACT OMO:0003012 [] synonym: "MRX18" EXACT OMO:0003012 [] synonym: "MRX78" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 1" EXACT [] synonym: "X-linked mental retardation 1/78" EXACT [] synonym: "X-linked mental retardation 18" EXACT [] synonym: "X-linked mental retardation 78" EXACT [] xref: GARD:13221 xref: MIM:309530 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0112039 name: non-syndromic X-linked intellectual disability 77 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/12949971/] synonym: "MRX77" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 77" EXACT [] xref: MIM:300454 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112040 name: non-syndromic X-linked intellectual disability 100 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/24812067/] synonym: "MRX100" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 100" EXACT [] xref: MIM:300923 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112041 name: non-syndromic X-linked intellectual disability 90 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/15185169/] synonym: "MRX90" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 90" EXACT [] xref: MIM:300850 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112042 name: Tonne-Kalscheuer syndrome def: "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/25735484/, url:https\://pubmed.ncbi.nlm.nih.gov/29728705/] synonym: "intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia" EXACT [] synonym: "MRX61" EXACT OMO:0003012 [] synonym: "TOKAS" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 61" EXACT [] xref: MIM:300978 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0112043 name: non-syndromic X-linked intellectual disability 91 def: "A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/15915161/] synonym: "MRX91" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 91" EXACT [] xref: MIM:300577 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0112044 name: non-syndromic X-linked intellectual disability 98 def: "A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/23615299/, url:https\://pubmed.ncbi.nlm.nih.gov/27358180/] synonym: "MRX98" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 98" EXACT [] xref: MIM:300912 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0112045 name: non-syndromic X-linked intellectual disability 93 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1." [url:https\://pubmed.ncbi.nlm.nih.gov/17668385/] synonym: "MRX93" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 93" EXACT [] synonym: "X-linked mental retardation with macrocephaly" EXACT [] xref: MIM:300659 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112046 name: non-syndromic X-linked intellectual disability 97 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1." [url:https\://pubmed.ncbi.nlm.nih.gov/10398247/, url:https\://pubmed.ncbi.nlm.nih.gov/27993705/] synonym: "MRX65" EXACT OMO:0003012 [] synonym: "MRX97" EXACT OMO:0003012 [] synonym: "MRXZ" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 65" EXACT [] synonym: "X-linked mental retardation 97" EXACT [] xref: MIM:300803 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability [Term] id: DOID:0112047 name: non-syndromic X-linked intellectual disability 53 def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26." [url:https\://pubmed.ncbi.nlm.nih.gov/11337751/] synonym: "MRX53" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 53" EXACT [] xref: MIM:300324 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112048 name: non-syndromic X-linked intellectual disability 101 def: "A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3." [url:https\://pubmed.ncbi.nlm.nih.gov/24115387/] synonym: "MRX101" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 101" EXACT [] xref: MIM:300928 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112049 name: non-syndromic X-linked intellectual disability 23 def: "A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24." [url:https\://pubmed.ncbi.nlm.nih.gov/6711606/, url:https\://pubmed.ncbi.nlm.nih.gov/8852668/] synonym: "MRX23" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 23" EXACT [] xref: MIM:300046 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability [Term] id: DOID:0112050 name: non-syndromic X-linked intellectual disability 63 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23." [url:https\://pubmed.ncbi.nlm.nih.gov/10854107/, url:https\://pubmed.ncbi.nlm.nih.gov/11889465/] subset: DO_rare_slim synonym: "ACSL4-related intellectual disability" EXACT [] synonym: "MRX63" EXACT OMO:0003012 [] synonym: "MRX68" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 63" EXACT [] synonym: "X-linked mental retardation 68" EXACT [] xref: GARD:5613 xref: MIM:300387 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0112051 name: non-syndromic X-linked intellectual disability 30 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23." [url:https\://pubmed.ncbi.nlm.nih.gov/10946356/, url:https\://pubmed.ncbi.nlm.nih.gov/9332663/, url:https\://pubmed.ncbi.nlm.nih.gov/9731525/] synonym: "MRX30" EXACT OMO:0003012 [] synonym: "MRX47" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 30" EXACT [] synonym: "X-linked mental retardation 30/47" EXACT [] synonym: "X-linked mental retardation 47" EXACT [] xref: MIM:300558 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112052 name: non-syndromic X-linked intellectual disability 82 def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25." [url:https\://pubmed.ncbi.nlm.nih.gov/15526294/] synonym: "MRX82" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 82" EXACT [] xref: MIM:300518 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112053 name: non-syndromic X-linked intellectual disability 88 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24." [url:https\://pubmed.ncbi.nlm.nih.gov/12089445/, url:https\://pubmed.ncbi.nlm.nih.gov/23871722/] synonym: "MRX88" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 88" EXACT [] xref: MIM:300852 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability [Term] id: DOID:0112054 name: non-syndromic X-linked intellectual disability 107 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24." [url:https\://pubmed.ncbi.nlm.nih.gov/29374277/] synonym: "MRX107" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 107" EXACT [] xref: MIM:301013 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0112055 name: non-syndromic X-linked intellectual disability 46 def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26." [url:https\://pubmed.ncbi.nlm.nih.gov/9783701/] synonym: "MRX46" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 46" EXACT [] xref: MIM:300436 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112056 name: X-linked intellectual disability-short stature-overweight syndrome def: "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25." [url:https\://pubmed.ncbi.nlm.nih.gov/26166480/] subset: DO_rare_slim synonym: "MRX12" EXACT OMO:0003012 [] synonym: "MRX35" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 12" EXACT [] synonym: "X-linked mental retardation 35" EXACT [] xref: MIM:300957 xref: ORDO:457240 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112057 name: non-syndromic X-linked intellectual disability 42 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26." [url:https\://pubmed.ncbi.nlm.nih.gov/11807862/] synonym: "MRX42" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 42" EXACT [] xref: MIM:300372 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability [Term] id: DOID:0112058 name: non-syndromic X-linked intellectual disability 41 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/8826463/, url:https\://pubmed.ncbi.nlm.nih.gov/9106537/, url:https\://pubmed.ncbi.nlm.nih.gov/9620768/] synonym: "MRX41" EXACT OMO:0003012 [] synonym: "MRX48" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 41" EXACT [] synonym: "X-linked mental retardation 48" EXACT [] xref: MIM:300849 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0112059 name: non-syndromic X-linked intellectual disability 72 def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/11050621/, url:https\://pubmed.ncbi.nlm.nih.gov/20159109/] synonym: "MRX72" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 72" EXACT [] xref: MIM:300271 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112060 name: Raynaud-Claes syndrome def: "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2." [url:https\://pubmed.ncbi.nlm.nih.gov/23647072/, url:https\://pubmed.ncbi.nlm.nih.gov/27550844/, url:https\://pubmed.ncbi.nlm.nih.gov/8826458/, url:https\://pubmed.ncbi.nlm.nih.gov/9415477/] synonym: "MRX15" EXACT OMO:0003012 [] synonym: "MRX49" EXACT OMO:0003012 [] synonym: "MRXSRC" EXACT OMO:0003012 [] synonym: "X-linked mental retardation 15" EXACT [] synonym: "X-linked mental retardation 49" EXACT [] xref: MIM:300114 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0112061 name: immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia def: "A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/30723080/, url:https\://pubmed.ncbi.nlm.nih.gov/32542921/] synonym: "IMD73B" EXACT OMO:0003012 [] xref: MIM:618986 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:0112062 name: immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia def: "A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12." [url:https\://pubmed.ncbi.nlm.nih.gov/25512081/] synonym: "IMD73C" EXACT OMO:0003012 [] xref: MIM:618987 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:0112063 name: X-Linked immunodeficiency 74 def: "A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2." [url:https\://pubmed.ncbi.nlm.nih.gov/32706371/] synonym: "IMD74" EXACT OMO:0003012 [] synonym: "respiratory insufficiency due to SARS-CoV-2 viral infection" EXACT [] synonym: "TLR7 deficiency" EXACT [] synonym: "X-linked immunodeficiency 74,COVID-19-related" EXACT [] xref: MIM:301051 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:11200 ! T cell deficiency [Term] id: DOID:0112064 name: immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis def: "A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/21167572/, url:https\://pubmed.ncbi.nlm.nih.gov/32542921/] subset: DO_rare_slim synonym: "IMD73A" EXACT OMO:0003012 [] synonym: "neutrophil immunodeficiency syndrome" EXACT [] xref: MESH:C564275 xref: MIM:608203 xref: ORDO:183707 xref: SNOMEDCT_US_2023_03_01:723443003 xref: UMLS_CUI:C1842398 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:0112065 name: nuclear type mitochondrial complex I deficiency def: "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome." [url:https\://pubmed.ncbi.nlm.nih.gov/22644603/, url:https\://pubmed.ncbi.nlm.nih.gov/22972949/] synonym: "MC1DN" EXACT OMO:0003012 [] xref: MIM:PS252010 is_a: DOID:0060536 ! mitochondrial complex I deficiency [Term] id: DOID:0112066 name: nuclear type mitochondrial complex I deficiency 6 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23." [url:https\://pubmed.ncbi.nlm.nih.gov/11220739/] synonym: "MC1DN6" EXACT OMO:0003012 [] xref: MIM:618228 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112067 name: nuclear type mitochondrial complex I deficiency 25 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1." [url:https\://pubmed.ncbi.nlm.nih.gov/22277967/] synonym: "MC1DN25" EXACT OMO:0003012 [] xref: MIM:618246 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112068 name: nuclear type mitochondrial complex I deficiency 5 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3." [url:https\://pubmed.ncbi.nlm.nih.gov/11349233/] synonym: "MC1DN5" EXACT OMO:0003012 [] xref: MIM:618226 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112069 name: nuclear type mitochondrial complex I deficiency 22 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3." [url:https\://pubmed.ncbi.nlm.nih.gov/21150889/] synonym: "MC1DN22" EXACT OMO:0003012 [] xref: MIM:618243 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112070 name: nuclear type mitochondrial complex I deficiency 18 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31." [url:https\://pubmed.ncbi.nlm.nih.gov/19463981/] synonym: "MC1DN18" EXACT OMO:0003012 [] xref: MIM:618240 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112071 name: nuclear type mitochondrial complex I deficiency 31 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33." [url:https\://pubmed.ncbi.nlm.nih.gov/28604674/] synonym: "MC1DN31" EXACT OMO:0003012 [] xref: MIM:618251 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112072 name: nuclear type mitochondrial complex I deficiency 20 def: "A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3." [url:https\://ghr.nlm.nih.gov/condition/acad9-deficiency, url:https\://pubmed.ncbi.nlm.nih.gov/17564966/, url:https\://pubmed.ncbi.nlm.nih.gov/21057504/] subset: DO_rare_slim synonym: "ACAD9 deficiency" EXACT [] synonym: "Acyl-CoA dehydrogenase 9 deficiency" EXACT [] synonym: "MC1DN20" EXACT OMO:0003012 [] synonym: "mitochondrial complex 1 deficiency due to ACAD9 deficiency" EXACT [] xref: MESH:C567006 xref: MIM:611126 xref: ORDO:99901 xref: SNOMEDCT_US_2023_03_01:725046003 xref: UMLS_CUI:C1970173 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112073 name: nuclear type mitochondrial complex I deficiency 9 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33." [url:https\://pubmed.ncbi.nlm.nih.gov/15372108/] synonym: "MC1DN9" EXACT OMO:0003012 [] xref: MIM:618232 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112074 name: nuclear type mitochondrial complex I deficiency 1 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/10330338/, url:https\://pubmed.ncbi.nlm.nih.gov/10944442/] synonym: "MC1DN1" EXACT OMO:0003012 [] xref: MIM:252010 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112075 name: nuclear type mitochondrial complex I deficiency 10 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1." [url:https\://pubmed.ncbi.nlm.nih.gov/16200211/] synonym: "MC1DN10" EXACT OMO:0003012 [] xref: MIM:618233 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112076 name: nuclear type mitochondrial complex I deficiency 13 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3." [url:https\://pubmed.ncbi.nlm.nih.gov/18513682/] synonym: "MC1DN13" EXACT OMO:0003012 [] xref: MIM:618235 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112077 name: nuclear type mitochondrial complex I deficiency 15 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1." [url:https\://pubmed.ncbi.nlm.nih.gov/18179882/] synonym: "MC1DN15" EXACT OMO:0003012 [] xref: MIM:618237 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112078 name: nuclear type mitochondrial complex I deficiency 17 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/18614015/] synonym: "MC1DN17" EXACT OMO:0003012 [] xref: MIM:618239 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112079 name: nuclear type mitochondrial complex I deficiency 24 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13." [url:https\://pubmed.ncbi.nlm.nih.gov/22200994/] synonym: "MC1DN24" EXACT OMO:0003012 [] xref: MIM:618245 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112080 name: nuclear type mitochondrial complex I deficiency 32 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31." [url:https\://pubmed.ncbi.nlm.nih.gov/29429571/] synonym: "MC1DN32" EXACT OMO:0003012 [] xref: MIM:618252 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112081 name: nuclear type mitochondrial complex I deficiency 8 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/14729820/] synonym: "MC1DN8" EXACT OMO:0003012 [] xref: MIM:618230 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112082 name: nuclear type mitochondrial complex I deficiency 4 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/10080174/] synonym: "MC1DN4" EXACT OMO:0003012 [] xref: MIM:618225 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112083 name: nuclear type mitochondrial complex I deficiency 2 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/9837812/] synonym: "MC1DN2" EXACT OMO:0003012 [] xref: MIM:618222 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112084 name: nuclear type mitochondrial complex I deficiency 29 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1." [url:https\://pubmed.ncbi.nlm.nih.gov/27374773/] synonym: "MC1DN29" EXACT OMO:0003012 [] xref: MIM:618250 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112085 name: nuclear type mitochondrial complex I deficiency 19 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2." [url:https\://pubmed.ncbi.nlm.nih.gov/20818383/] synonym: "MC1DN19" EXACT OMO:0003012 [] xref: MIM:618241 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112086 name: nuclear type mitochondrial complex I deficiency 26 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32." [url:https\://pubmed.ncbi.nlm.nih.gov/22114105/] synonym: "MC1DN26" EXACT OMO:0003012 [] xref: MIM:618247 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112087 name: nuclear type mitochondrial complex I deficiency 23 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22." [url:https\://pubmed.ncbi.nlm.nih.gov/21617257/] synonym: "MC1DN23" EXACT OMO:0003012 [] xref: MIM:618244 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112088 name: nuclear type mitochondrial complex I deficiency 21 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12." [url:https\://pubmed.ncbi.nlm.nih.gov/20818383/] synonym: "MC1DN21" EXACT OMO:0003012 [] xref: MIM:618242 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112089 name: nuclear type mitochondrial complex I deficiency 11 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1." [url:https\://pubmed.ncbi.nlm.nih.gov/17557076/] synonym: "MC1DN11" EXACT OMO:0003012 [] xref: MIM:618234 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112090 name: nuclear type mitochondrial complex I deficiency 27 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31." [url:https\://pubmed.ncbi.nlm.nih.gov/22499348/] synonym: "MC1DN27" EXACT OMO:0003012 [] xref: MIM:618248 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112091 name: nuclear type mitochondrial complex I deficiency 34 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/31866046/] synonym: "MC1DN34" EXACT OMO:0003012 [] xref: MIM:618776 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112092 name: nuclear type mitochondrial complex I deficiency 7 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22." [url:https\://pubmed.ncbi.nlm.nih.gov/12754703/] synonym: "MC1DN7" EXACT OMO:0003012 [] xref: MIM:618229 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112093 name: nuclear type mitochondrial complex I deficiency 3 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/10330338/, url:https\://pubmed.ncbi.nlm.nih.gov/17275378/] synonym: "MC1DN3" EXACT OMO:0003012 [] xref: MIM:618224 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112094 name: nuclear type mitochondrial complex I deficiency 14 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/18306244/] synonym: "MC1DN14" EXACT OMO:0003012 [] xref: MIM:618236 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112095 name: nuclear type mitochondrial complex I deficiency 28 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11." [url:https\://pubmed.ncbi.nlm.nih.gov/25901006/] synonym: "MC1DN28" EXACT OMO:0003012 [] xref: MIM:618249 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112096 name: nuclear type mitochondrial complex I deficiency 16 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1." [url:https\://pubmed.ncbi.nlm.nih.gov/18940309/] synonym: "MC1DN16" EXACT OMO:0003012 [] xref: MIM:618238 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112097 name: nuclear type mitochondrial complex I deficiency 33 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/30245030/] synonym: "MC1DN33" EXACT OMO:0003012 [] xref: MIM:618253 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112098 name: nuclear type mitochondrial complex I deficiency 30 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3." [url:https\://pubmed.ncbi.nlm.nih.gov/26741492/] synonym: "MC1DN30" EXACT OMO:0003012 [] xref: MIM:301021 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112099 name: nuclear type mitochondrial complex I deficiency 12 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24." [url:https\://pubmed.ncbi.nlm.nih.gov/17262856/] synonym: "MC1DN12" EXACT OMO:0003012 [] xref: MIM:301020 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency [Term] id: DOID:0112100 name: mitochondrial type mitochondrial complex I deficiency def: "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome." [url:https\://pubmed.ncbi.nlm.nih.gov/22972949/] synonym: "MC1DM" EXACT OMO:0003012 [] is_a: DOID:0060536 ! mitochondrial complex I deficiency [Term] id: DOID:0112101 name: mitochondrial type mitochondrial complex I deficiency 1 def: "A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome." [url:https\://pubmed.ncbi.nlm.nih.gov/11456298/] synonym: "MC1DM1" EXACT OMO:0003012 [] xref: MIM:500014 is_a: DOID:0112100 ! mitochondrial type mitochondrial complex I deficiency [Term] id: DOID:0112102 name: Sotos syndrome 2 def: "A Sotos syndrome that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/20673863/] synonym: "SOTOS2" EXACT OMO:0003012 [] xref: MIM:614753 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14748 ! Sotos syndrome [Term] id: DOID:0112103 name: Sotos syndrome 1 def: "A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/11896389/, url:https\://pubmed.ncbi.nlm.nih.gov/14517949/] synonym: "SOTOS1" EXACT OMO:0003012 [] xref: MIM:117550 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14748 ! Sotos syndrome [Term] id: DOID:0112104 name: Sotos syndrome 3 def: "A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/25753423/] synonym: "SOTOS3" EXACT OMO:0003012 [] xref: MIM:617169 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14748 ! Sotos syndrome [Term] id: DOID:0112105 name: X-linked parkinsonism-spasticity syndrome def: "A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4." [url:https\://pubmed.ncbi.nlm.nih.gov/20629132/, url:https\://pubmed.ncbi.nlm.nih.gov/23595882/] subset: DO_rare_slim synonym: "X-linked Parkinsonism with spasticity" EXACT [] synonym: "XPDS" EXACT OMO:0003012 [] xref: MIM:300911 xref: ORDO:363654 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:480 ! movement disease [Term] id: DOID:0112106 name: chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia def: "A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/16001442/] subset: DO_rare_slim synonym: "X-linked dominant chondrodysplasia, Chassaing-Lacombe type" EXACT [] synonym: "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome" EXACT [] xref: MIM:300863 xref: ORDO:163966 is_a: DOID:0080352 ! X-linked chondrodysplasia punctata 2 [Term] id: DOID:0112107 name: McLeod syndrome def: "A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1." [url:https\://medlineplus.gov/genetics/condition/mcleod-neuroacanthocytosis-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/17683354/, url:https\://pubmed.ncbi.nlm.nih.gov/8004674/] subset: DO_rare_slim synonym: "McLeod neuroacanthocytosis syndrome" EXACT [] synonym: "McLeod syndrome with or without chronic granulomatous disease" EXACT [] synonym: "McLeod type neuroacanthocytosis" EXACT [] synonym: "MLS" EXACT OMO:0003012 [] synonym: "X-linked McLeod syndrome" EXACT [] xref: GARD:10731 xref: MESH:C564038 xref: MIM:300842 xref: ORDO:59306 xref: SNOMEDCT_US_2023_03_01:234411007 xref: UMLS_CUI:C0398568 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050765 ! neuroacanthocytosis [Term] id: DOID:0112108 name: myofibrillar myopathy 10 def: "A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/32779703/] synonym: "MFM10" EXACT OMO:0003012 [] xref: MIM:619040 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080307 ! myofibrillar myopathy [Term] id: DOID:0112109 name: spermatogenic failure 44 def: "A spermatogenic failure characterized by high prevalence of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.1." [url:https\://pubmed.ncbi.nlm.nih.gov/31654588/] synonym: "SPGF44" EXACT OMO:0003012 [] xref: MIM:619044 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112110 name: combined oxidative phosphorylation deficiency 49 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/29361167/] synonym: "COXPD49" EXACT OMO:0003012 [] xref: MIM:619024 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0112111 name: combined oxidative phosphorylation deficiency 50 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1." [url:https\://pubmed.ncbi.nlm.nih.gov/31039582/] synonym: "COXPD50" EXACT OMO:0003012 [] xref: MIM:619025 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0112112 name: combined oxidative phosphorylation deficiency 48 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/27356879/] synonym: "COXPD48" EXACT OMO:0003012 [] xref: MIM:619012 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0112113 name: combined oxidative phosphorylation deficiency 45 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/23603806/] synonym: "COXPD45" EXACT OMO:0003012 [] xref: MIM:618951 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0112114 name: combined oxidative phosphorylation deficiency 47 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13." [url:https\://pubmed.ncbi.nlm.nih.gov/30566640/] synonym: "COXPD47" EXACT OMO:0003012 [] xref: MIM:618958 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0112115 name: combined oxidative phosphorylation deficiency 46 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22." [url:https\://pubmed.ncbi.nlm.nih.gov/26741492/] synonym: "COXPD46" EXACT OMO:0003012 [] xref: MIM:618952 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0112116 name: combined oxidative phosphorylation deficiency 43 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/30452684/] synonym: "COXPD43" EXACT OMO:0003012 [] xref: MIM:618851 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0112117 name: combined oxidative phosphorylation deficiency 40 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21." [url:https\://pubmed.ncbi.nlm.nih.gov/26741492/] subset: DO_rare_slim synonym: "COXPD40" EXACT OMO:0003012 [] synonym: "QRSL1-related COXPD" EXACT [] xref: MIM:618835 xref: ORDO:570491 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0112118 name: combined oxidative phosphorylation deficiency 42 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31." [url:https\://pubmed.ncbi.nlm.nih.gov/30283131/] synonym: "COXPD42" EXACT OMO:0003012 [] xref: MIM:618839 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0112119 name: combined oxidative phosphorylation deficiency 41 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3." [url:https\://pubmed.ncbi.nlm.nih.gov/30283131/] synonym: "COXPD41" EXACT OMO:0003012 [] xref: MIM:618838 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0112120 name: SHOX-related short stature def: "A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively." [url:https\://pubmed.ncbi.nlm.nih.gov/9140395/, url:https\://pubmed.ncbi.nlm.nih.gov/9916840/] subset: DO_rare_slim synonym: "idiopathic familial short stature" EXACT [] xref: MIM:300582 xref: ORDO:314795 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080006 ! bone development disease [Term] id: DOID:0112121 name: nephrogenic syndrome of inappropriate antidiuresis def: "A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/15872203/] subset: DO_rare_slim synonym: "NSIAD" EXACT OMO:0003012 [] xref: MESH:C564491 xref: MIM:300539 xref: ORDO:93606 xref: SNOMEDCT_US_2023_03_01:723440000 xref: UMLS_CUI:C1845202 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0112122 name: X-linked epilepsy with variable learning disabilities and behavior disorders def: "An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/14985377/, url:https\://pubmed.ncbi.nlm.nih.gov/21441247/] subset: DO_rare_slim synonym: "X-linked epilepsy-learning disabilities-behavior disorders syndrome" EXACT [] xref: MESH:C564505 xref: MIM:300491 xref: ORDO:85294 xref: UMLS_CUI:C1845343 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:1826 ! epilepsy [Term] id: DOID:0112123 name: deafness, dystonia, and cerebral hypomyelination def: "A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/24011989/] subset: DO_rare_slim synonym: "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome" EXACT [] synonym: "severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome" EXACT [] xref: GARD:12472 xref: MIM:300475 xref: ORDO:369939 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112124 name: X-linked retinitis pigmentosa and sinorespiratory infections def: "A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4." [url:https\://pubmed.ncbi.nlm.nih.gov/10094550/, url:https\://pubmed.ncbi.nlm.nih.gov/1733835/] subset: DO_rare_slim synonym: "primary ciliary dyskinesia-retinitis pigmentosa syndrome" EXACT [] xref: MIM:300455 xref: ORDO:247522 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112125 name: alpha-thalassemia myelodysplasia syndrome def: "A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1." [url:https\://pubmed.ncbi.nlm.nih.gov/12858175/] subset: DO_rare_slim synonym: "acquired HbH disease" EXACT [] synonym: "acquired hemoglobin H disease" EXACT [] synonym: "alpha-thalassemia-myelodysplastic syndrome" EXACT [] synonym: "ATMDS" EXACT OMO:0003012 [] xref: MESH:C563023 xref: MIM:300448 xref: ORDO:231401 xref: SNOMEDCT_US_2023_03_01:307343001 xref: UMLS_CUI:C0585216 is_a: DOID:225 ! syndrome [Term] id: DOID:0112126 name: Stocco Dos Santos type X-linked intellectual disability def: "A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22." [url:https\://pubmed.ncbi.nlm.nih.gov/16249884/] subset: DO_rare_slim synonym: "SDSX" EXACT OMO:0003012 [] synonym: "Stocco dos Santos X-linked mental retardation syndrome" EXACT [] xref: MIM:300434 xref: ORDO:85288 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0112127 name: HRPT-related hyperuricemia def: "A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3." [url:https\://pubmed.ncbi.nlm.nih.gov/10657589/, url:https\://pubmed.ncbi.nlm.nih.gov/2896620/] subset: DO_rare_slim synonym: "HPRT deficiency, grade I" EXACT [] synonym: "HPRT partial deficiency" EXACT [] synonym: "HPRT-related gout" EXACT [] synonym: "HPRT-related hyperuricemia" EXACT [] synonym: "HPRT1 partial deficiency" EXACT [] synonym: "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency" EXACT [] synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I" EXACT [] synonym: "hypoxanthine guanine phosphoribosyltransferase partial deficiency" EXACT [] synonym: "Kelley-Seegmiller syndrome" EXACT [] xref: MIM:300323 xref: ORDO:79233 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1920 ! hyperuricemia is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0112128 name: X-linked severe congenital neutropenia def: "A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23." [url:https\://pubmed.ncbi.nlm.nih.gov/11242115/] subset: DO_rare_slim subset: NCIthesaurus synonym: "SCNX" EXACT OMO:0003012 [] synonym: "XLN" EXACT OMO:0003012 [] xref: GARD:3981 xref: MESH:C564539 xref: MIM:300299 xref: NCI:C176818 xref: ORDO:86788 xref: SNOMEDCT_US_2023_03_01:718882006 xref: UMLS_CUI:C1845987 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0112129 name: severe congenital neutropenia 7 def: "A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3." [url:https\://pubmed.ncbi.nlm.nih.gov/24753537/, url:https\://pubmed.ncbi.nlm.nih.gov/26324699/] subset: DO_rare_slim synonym: "autosomal recessive severe congenital neutropenia due to CSF3R deficiency" EXACT [] synonym: "SCN7" EXACT OMO:0003012 [] xref: MIM:617014 xref: ORDO:420702 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0112130 name: autosomal dominant severe congenital neutropenia def: "A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene." [url:https\://medlineplus.gov/genetics/condition/severe-congenital-neutropenia, url:https\://pubmed.ncbi.nlm.nih.gov/28593997/] subset: DO_rare_slim xref: GARD:9558 xref: ORDO:486 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0112131 name: severe congenital neutropenia 2 def: "An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/12778173/] synonym: "SCN2" EXACT OMO:0003012 [] xref: MIM:613107 is_a: DOID:0112130 ! autosomal dominant severe congenital neutropenia [Term] id: DOID:0112132 name: severe congenital neutropenia 5 def: "A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/23599270/, url:https\://pubmed.ncbi.nlm.nih.gov/23738510/] subset: DO_rare_slim synonym: "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" EXACT [] synonym: "congenital neutropenia-myelofibrosis-nephromegaly syndrome" EXACT [] synonym: "SCN5" EXACT OMO:0003012 [] synonym: "VPS45 deficiency" EXACT [] xref: MIM:615285 xref: ORDO:369852 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0112133 name: severe congenital neutropenia 3 def: "A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/17187068/, url:https\://pubmed.ncbi.nlm.nih.gov/21108402/] subset: DO_rare_slim synonym: "infantile agranulocytosis" EXACT [] synonym: "Kostmann disease" EXACT [] synonym: "Kostmann syndrome" EXACT [] synonym: "SCN3" EXACT OMO:0003012 [] xref: GARD:302 xref: MIM:610738 xref: ORDO:99749 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0112134 name: severe congenital neutropenia 6 def: "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/25129144/] subset: DO_rare_slim synonym: "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency" EXACT [] synonym: "SCN6" EXACT OMO:0003012 [] xref: MIM:616022 xref: ORDO:423384 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0112135 name: severe congenital neutropenia 8 def: "An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/28972538/] synonym: "autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities" EXACT [] synonym: "SCN8" EXACT OMO:0003012 [] synonym: "SDSL" EXACT OMO:0003012 [] synonym: "Shwachman-Diamond syndrome-like" EXACT [] xref: MIM:618752 is_a: DOID:0112130 ! autosomal dominant severe congenital neutropenia [Term] id: DOID:0112136 name: severe congenital neutropenia 4 def: "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31." [url:https\://pubmed.ncbi.nlm.nih.gov/19118303/] subset: DO_rare_slim synonym: "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" EXACT [] synonym: "Dursun syndrome" EXACT [] synonym: "SCN4" EXACT OMO:0003012 [] synonym: "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome" EXACT [] xref: MIM:612541 xref: ORDO:331176 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0112137 name: combined oxidative phosphorylation deficiency 51 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/30607703/] synonym: "COXPD51" EXACT OMO:0003012 [] xref: MIM:619057 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0112138 name: primary coenzyme Q10 deficiency 9 def: "A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31." [url:https\://pubmed.ncbi.nlm.nih.gov/29044765/] synonym: "COQ10D9" EXACT OMO:0003012 [] xref: MIM:619028 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0112139 name: nuclear type mitochondrial complex I deficiency 35 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/28040730/] synonym: "MC1DN35" EXACT OMO:0003012 [] xref: MIM:619003 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060536 ! mitochondrial complex I deficiency [Term] id: DOID:0112140 name: retinitis pigmentosa 83 def: "A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32." [url:https\://pubmed.ncbi.nlm.nih.gov/30932721/] synonym: "RP83" EXACT OMO:0003012 [] xref: MIM:618173 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0112141 name: retinitis pigmentosa 84 def: "A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2." [url:https\://pubmed.ncbi.nlm.nih.gov/24737827/, url:https\://pubmed.ncbi.nlm.nih.gov/30208423/] synonym: "RP84" EXACT OMO:0003012 [] xref: MIM:618220 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0112142 name: retinitis pigmentosa 85 def: "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1." [url:https\://pubmed.ncbi.nlm.nih.gov/29726989/] synonym: "RP85" EXACT OMO:0003012 [] xref: MIM:618345 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0112143 name: retinitis pigmentosa 86 def: "A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34." [url:https\://pubmed.ncbi.nlm.nih.gov/30120214/] synonym: "RP86" EXACT OMO:0003012 [] xref: MIM:618613 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0112144 name: retinitis pigmentosa 87 def: "A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3." [url:https\://pubmed.ncbi.nlm.nih.gov/27307694/, url:https\://pubmed.ncbi.nlm.nih.gov/30628748/] synonym: "retinitis pigmentosa 87 with choroidal involvement" EXACT [] synonym: "RP87" EXACT OMO:0003012 [] xref: MIM:618697 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0112145 name: retinitis pigmentosa 88 def: "A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1." [url:https\://pubmed.ncbi.nlm.nih.gov/30025130/, url:https\://pubmed.ncbi.nlm.nih.gov/31236346/, url:https\://pubmed.ncbi.nlm.nih.gov/31833436/] synonym: "RP88" EXACT OMO:0003012 [] xref: MIM:618826 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0112146 name: retinitis pigmentosa 89 def: "A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/32386558/] synonym: "RP89" EXACT OMO:0003012 [] xref: MIM:618955 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0112147 name: retinitis pigmentosa 90 def: "A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1." [url:https\://pubmed.ncbi.nlm.nih.gov/28412069/] synonym: "RP90" EXACT OMO:0003012 [] xref: MIM:619007 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0112148 name: Uruguay faciocardiomusculoskeletal syndrome def: "A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3." [url:https\://pubmed.ncbi.nlm.nih.gov/11102932/, url:https\://pubmed.ncbi.nlm.nih.gov/26933038/] synonym: "FCMSU" EXACT OMO:0003012 [] xref: MESH:C564544 xref: MIM:300280 is_a: DOID:225 ! syndrome [Term] id: DOID:0112149 name: terminal osseous dysplasia def: "A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/20598277/] subset: DO_rare_slim synonym: "digital osseous dysplasia with facial pigmentary defects and multiple frenula" EXACT [] synonym: "ODPD" EXACT OMO:0003012 [] synonym: "ODPF syndrome" EXACT [] synonym: "terminal osseous dysplasia-pigmentary defects syndrome" EXACT [] synonym: "TOD" EXACT OMO:0003012 [] synonym: "TODPD" EXACT OMO:0003012 [] xref: MESH:C564554 xref: MIM:300244 xref: ORDO:88630 xref: UMLS_CUI:C1846129 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112150 name: X-linked spondyloepimetaphyseal dysplasia def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/27236923/, url:https\://pubmed.ncbi.nlm.nih.gov/8064814/] subset: DO_rare_slim subset: NCIthesaurus synonym: "SEMD X-linked" EXACT [] synonym: "SEMDX" EXACT OMO:0003012 [] xref: GARD:4979 xref: MESH:C564714 xref: MIM:300106 xref: NCI:C188996 xref: ORDO:93349 xref: SNOMEDCT_US_2023_03_01:770603000 xref: UMLS_CUI:C1848097 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:0112151 name: corpus callosum agenesis-abnormal genitalia syndrome def: "A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/14722918/, url:https\://pubmed.ncbi.nlm.nih.gov/1605226/] subset: DO_rare_slim synonym: "ACC with abnormal genitalia" EXACT [] synonym: "corpus callosum agenesis with abnormal genitalia" EXACT [] synonym: "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome" EXACT [] synonym: "Proud syndrome" EXACT [] synonym: "Proud-Levine-Carpenter syndrome" EXACT [] xref: GARD:4528 xref: MIM:300004 xref: ORDO:2508 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112152 name: CHIME syndrome def: "A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/22444671/] subset: DO_rare_slim synonym: "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome" EXACT [] synonym: "congenital disorder of glycosylation due to PIGL deficiency" EXACT [] synonym: "neuroectodermal dysplasia, CHIME type" EXACT [] synonym: "neuroectodermal syndrome, Zunich type" EXACT [] synonym: "PIGL-CDG" EXACT OMO:0003012 [] synonym: "Zunich neuroectodermal syndrome" EXACT [] synonym: "Zunich-Kaye syndrome" EXACT [] xref: GARD:310 xref: MESH:C536729 xref: MIM:280000 xref: ORDO:3474 xref: SNOMEDCT_US_2023_03_01:720639008 xref: UMLS_CUI:C1848392 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112153 name: hypomyelinating leukodystrophy 20 def: "A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/32128616/] synonym: "HLD20" EXACT OMO:0003012 [] xref: MIM:619071 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0112154 name: inflammatory bowel disease 30 def: "An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33." [url:https\://pubmed.ncbi.nlm.nih.gov/29408806/] synonym: "IBD30" EXACT OMO:0003012 [] synonym: "inflammatory bowel disease (Crohn disease) 30" EXACT [] xref: MIM:619079 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0112155 name: inflammatory bowel disease 29 def: "An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the INAVA gene on chromosome 1q32.1." [url:https\://pubmed.ncbi.nlm.nih.gov/29420262/] synonym: "IBD29" EXACT OMO:0003012 [] xref: MIM:618077 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0112156 name: X-linked dyserythropoietic anemia def: "An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen." [url:https\://pubmed.ncbi.nlm.nih.gov/16783379/, url:https\://pubmed.ncbi.nlm.nih.gov/22706301/] subset: DO_rare_slim synonym: "X-linked anemia with/without neutropenia and/or platelet abnormalities" EXACT [] synonym: "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia" EXACT [] xref: MIM:300835 xref: ORDO:363727 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2355 ! anemia [Term] id: DOID:0112157 name: X-linked atrophic macular degeneration def: "A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4." [url:https\://pubmed.ncbi.nlm.nih.gov/12160730/] xref: MIM:300834 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:4448 ! macular degeneration [Term] id: DOID:0112158 name: De Sanctis-Cacchione syndrome def: "A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration." [url:https\://pubmed.ncbi.nlm.nih.gov/10767341/, url:https\://pubmed.ncbi.nlm.nih.gov/2168777/, url:https\://pubmed.ncbi.nlm.nih.gov/28491977/] subset: DO_rare_slim subset: NCIthesaurus synonym: "xeroderma pigmentosum with neurologic manifestation" EXACT [] xref: GARD:8276 xref: MESH:C535992 xref: MIM:278800 xref: NCI:C84666 xref: ORDO:1569 xref: SNOMEDCT_US_2023_03_01:254201008 xref: UMLS_CUI:C0265201 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0112159 name: autosomal dominant nonsyndromic deafness 78 def: "An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/32294086/] synonym: "DFNA78" EXACT OMO:0003012 [] xref: MIM:619081 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0112160 name: autosomal dominant nonsyndromic deafness 79 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22." [url:https\://pubmed.ncbi.nlm.nih.gov/31972369/] synonym: "DFNA79" EXACT OMO:0003012 [] xref: MIM:619086 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0112161 name: Noonan syndrome 13 def: "A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase." [url:https\://pubmed.ncbi.nlm.nih.gov/32721402/] synonym: "NS13" EXACT OMO:0003012 [] xref: MIM:619087 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0112162 name: autosomal recessive nonsyndromic deafness 116 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/31175426/] synonym: "DFNB116" EXACT OMO:0003012 [] xref: MIM:619093 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0112163 name: spermatogenic failure 45 def: "A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/30811583/] synonym: "SPGF45" EXACT OMO:0003012 [] xref: MIM:619094 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112164 name: spermatogenic failure 46 def: "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/32619401/, url:https\://pubmed.ncbi.nlm.nih.gov/32681648/] synonym: "SPGF46" EXACT OMO:0003012 [] xref: MIM:619095 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112165 name: autosomal dominant nonsyndromic deafness 74 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3." [url:https\://pubmed.ncbi.nlm.nih.gov/29860631/] synonym: "DFNA74" EXACT OMO:0003012 [] xref: MIM:618140 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0112166 name: autosomal dominant nonsyndromic deafness 75 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/31231791/] synonym: "DFNA75" EXACT OMO:0003012 [] xref: MIM:618778 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0112167 name: autosomal dominant nonsyndromic deafness 76 def: "An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23." [url:https\://pubmed.ncbi.nlm.nih.gov/30872814/, url:https\://pubmed.ncbi.nlm.nih.gov/31397523/, url:https\://pubmed.ncbi.nlm.nih.gov/31432506/] synonym: "DFNA76" EXACT OMO:0003012 [] xref: MIM:618787 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0112168 name: autosomal dominant nonsyndromic deafness 77 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11." [url:https\://pubmed.ncbi.nlm.nih.gov/31273342/] synonym: "DFNA77" EXACT OMO:0003012 [] xref: MIM:618915 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0112169 name: Noonan syndrome 11 def: "A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3." [url:https\://pubmed.ncbi.nlm.nih.gov/28289718/] synonym: "NS11" EXACT OMO:0003012 [] xref: MIM:618499 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0112170 name: Noonan syndrome 12 def: "A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2." [url:https\://pubmed.ncbi.nlm.nih.gov/31130282/, url:https\://pubmed.ncbi.nlm.nih.gov/31130285/] synonym: "NS12" EXACT OMO:0003012 [] xref: MIM:618624 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0112171 name: wrinkly skin syndrome def: "A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31." [url:https\://pubmed.ncbi.nlm.nih.gov/18157129/, url:https\://pubmed.ncbi.nlm.nih.gov/4765201/, url:https\://www.ncbi.nlm.nih.gov/books/NBK5200/] subset: DO_rare_slim synonym: "WSS" EXACT OMO:0003012 [] xref: GARD:273 xref: MESH:C536750 xref: MIM:278250 xref: ORDO:2834 xref: SNOMEDCT_US_2023_03_01:238875009 xref: UMLS_CUI:C0406587 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112172 name: hereditary combined deficiency of vitamin K-dependent clotting factors def: "A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation." [url:https\://pubmed.ncbi.nlm.nih.gov/20630065/] subset: DO_rare_slim synonym: "hereditary combined deficiency of factors II, VII, IX and X" EXACT [] synonym: "VKCFD" EXACT OMO:0003012 [] xref: ORDO:98434 xref: SNOMEDCT_US_2023_03_01:724356003 xref: UMLS_CUI:C4510617 is_a: DOID:0050177 ! monogenic disease is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:0112173 name: combined deficiency of vitamin K-dependent clotting factors 1 def: "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/9845520/] synonym: "VKCFD1" EXACT OMO:0003012 [] xref: MESH:C564741 xref: MIM:277450 xref: UMLS_CUI:C1848534 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112172 ! hereditary combined deficiency of vitamin K-dependent clotting factors [Term] id: DOID:0112174 name: combined deficiency of vitamin K-dependent clotting factors 2 def: "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/14765194/] synonym: "VKCFD2" EXACT OMO:0003012 [] xref: MESH:C564393 xref: MIM:607473 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112172 ! hereditary combined deficiency of vitamin K-dependent clotting factors [Term] id: DOID:0112175 name: spermatogenic failure 47 def: "A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1." [url:https\://pubmed.ncbi.nlm.nih.gov/32051257/] synonym: "SPGF47" EXACT OMO:0003012 [] xref: MIM:619102 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112176 name: spermatogenic failure 48 def: "A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/32017041/, url:https\://pubmed.ncbi.nlm.nih.gov/32673564/] synonym: "SPGF48" EXACT OMO:0003012 [] xref: MIM:619108 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112177 name: Mayer-Rokitansky-Kuster-Hauser syndrome def: "A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype." [url:https\://pubmed.ncbi.nlm.nih.gov/32819397/] subset: DO_rare_slim synonym: "MRKH syndrome" EXACT [] synonym: "Rokitansky syndrome" EXACT [] xref: ORDO:3109 is_a: DOID:225 ! syndrome [Term] id: DOID:0112178 name: Mayer-Rokitansky-Kuster-Hauser syndrome type 1 def: "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype." [url:https\://pubmed.ncbi.nlm.nih.gov/16691591/] subset: DO_rare_slim synonym: "congenital absence of uterus and vagina" EXACT [] synonym: "MRKH syndrome type 1" EXACT [] synonym: "Rokitansky sequence" EXACT [] xref: MIM:277000 xref: ORDO:247775 is_a: DOID:0112177 ! Mayer-Rokitansky-Kuster-Hauser syndrome [Term] id: DOID:0112179 name: Mayer-Rokitansky-Kuster-Hauser syndrome type 2 def: "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects." [url:https\://pubmed.ncbi.nlm.nih.gov/469663/] subset: DO_rare_slim synonym: "atypical MRKH syndrome" EXACT [] synonym: "MRKH syndrome type 2" EXACT [] synonym: "mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia" EXACT [] synonym: "mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome" EXACT [] synonym: "MURCS" EXACT OMO:0003012 [] synonym: "MURCS association" EXACT [] xref: MIM:601076 xref: ORDO:2578 is_a: DOID:0112177 ! Mayer-Rokitansky-Kuster-Hauser syndrome [Term] id: DOID:0112180 name: urocanase deficiency def: "A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/19304569/, url:https\://pubmed.ncbi.nlm.nih.gov/6107814/] subset: DO_rare_slim synonym: "encephalopathy due to urocanase deficiency" EXACT [] synonym: "high urine urocanic acid levels" EXACT [] synonym: "urocanate hydratase deficiency" EXACT [] synonym: "urocanic aciduria" EXACT [] synonym: "UROCD" EXACT OMO:0003012 [] xref: GARD:8539 xref: MESH:C536479 xref: MIM:276880 xref: ORDO:210128 xref: SNOMEDCT_US_2023_03_01:60952007 xref: UMLS_CUI:C0268514 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9265 ! histidine metabolism disease [Term] id: DOID:0112181 name: Schinzel type phocomelia def: "A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1." [url:https\://pubmed.ncbi.nlm.nih.gov/16826533/, url:https\://pubmed.ncbi.nlm.nih.gov/20949531/] subset: DO_rare_slim synonym: "AARRS" EXACT OMO:0003012 [] synonym: "absence of ulna and fibula with severe limb deficiency" EXACT [] synonym: "Al Awadi-Raas-Rothschild syndrome" EXACT [] synonym: "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome" EXACT [] synonym: "aplasia/hypoplasia of limbs and pelvis" EXACT [] synonym: "congenital absence of ulna and fibula" EXACT [] synonym: "limb/pelvis-hypoplasia/aplasia syndrome" EXACT [] synonym: "LPHAS" EXACT OMO:0003012 [] synonym: "Schinzel phocomelia syndrome" EXACT [] synonym: "severe limb deficit" EXACT [] xref: GARD:9212 xref: MIM:276820 xref: ORDO:2879 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112182 name: mismatch repair cancer syndrome def: "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively." [url:https\://pubmed.ncbi.nlm.nih.gov/24737826/, url:https\://pubmed.ncbi.nlm.nih.gov/7661930/] subset: DO_rare_slim synonym: "brain tumor-polyposis syndrome 1" EXACT [] synonym: "BTP1 syndrome" EXACT [] synonym: "BTPS1" EXACT OMO:0003012 [] synonym: "childhood cancer syndrome" EXACT [] synonym: "CMMR-D syndrome" EXACT [] synonym: "CMMRDS" EXACT OMO:0003012 [] synonym: "constitutional mismatch repair deficiency syndrome" EXACT [] synonym: "MMR deficiency" EXACT [] synonym: "Turcot syndrome" EXACT [] xref: MIM:276300 xref: ORDO:252202 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112183 name: familial thyroid dyshormonogenesis def: "A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis." [url:https\://pubmed.ncbi.nlm.nih.gov/15863666/] subset: DO_rare_slim xref: ORDO:95716 is_a: DOID:0050328 ! congenital hypothyroidism [Term] id: DOID:0112184 name: thyroid dyshormonogenesis 5 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1." [url:https\://pubmed.ncbi.nlm.nih.gov/18042646/] synonym: "genetic defect in thyroid hormonogenesis 5" EXACT [] synonym: "TDH5" EXACT OMO:0003012 [] xref: MESH:C562771 xref: MIM:274900 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis [Term] id: DOID:0112185 name: thyroid dyshormonogenesis 1 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11." [url:https\://pubmed.ncbi.nlm.nih.gov/9171822/] synonym: "genetic defect in thyroid hormonogenesis 1" EXACT [] synonym: "iodide accumulation, transport, or trapping defect" EXACT [] synonym: "TDH1" EXACT OMO:0003012 [] xref: MESH:C564766 xref: MIM:274400 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis [Term] id: DOID:0112186 name: thyroid dyshormonogenesis 2A def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/1401057/] synonym: "genetic defect in thyroid hormonogenesis 2A" EXACT [] synonym: "iodide peroxidase deficiency" EXACT [] synonym: "TDH2A" EXACT OMO:0003012 [] synonym: "thyroid peroxidase deficiency" EXACT [] xref: MESH:C563206 xref: MIM:274500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis [Term] id: DOID:0112187 name: thyroid dyshormonogenesis 3 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22." [url:https\://pubmed.ncbi.nlm.nih.gov/17244789/] synonym: "genetic defect in thyroid hormonogenesis 3" EXACT [] synonym: "TDH3" EXACT OMO:0003012 [] xref: MESH:C562769 xref: MIM:274700 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis [Term] id: DOID:0112188 name: thyroid dyshormonogenesis 4 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1." [url:https\://pubmed.ncbi.nlm.nih.gov/18434651/] synonym: "deiodinase deficiency" EXACT [] synonym: "genetic defect in thyroid hormonogenesis 4" EXACT [] synonym: "iodotyrosine dehalogenase deficiency" EXACT [] synonym: "TDH4" EXACT OMO:0003012 [] xref: MESH:C562770 xref: MIM:274800 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis [Term] id: DOID:0112189 name: thyroid dyshormonogenesis 6 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1." [url:https\://pubmed.ncbi.nlm.nih.gov/12110737/] synonym: "genetic defect in thyroid hormonogenesis 6" EXACT [] synonym: "TDH6" EXACT OMO:0003012 [] xref: MESH:C564608 xref: MIM:607200 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis [Term] id: DOID:0112190 name: distal arthrogryposis type 1C def: "A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/32707087/] synonym: "DA1C" EXACT OMO:0003012 [] xref: MIM:619110 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0111596 ! distal arthrogryposis type 1 [Term] id: DOID:0112191 name: tetraamelia syndrome def: "A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system." [url:https\://medlineplus.gov/genetics/condition/tetra-amelia-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/16283889/] subset: DO_rare_slim synonym: "TETAMS" EXACT OMO:0003012 [] synonym: "tetra-amelia syndrome" EXACT [] synonym: "tetraamelia-multiple malformations syndrome" EXACT [] xref: GARD:386 xref: ORDO:3301 is_a: DOID:225 ! syndrome [Term] id: DOID:0112192 name: tetraamelia syndrome 1 def: "A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32." [url:https\://pubmed.ncbi.nlm.nih.gov/14872406/] subset: DO_rare_slim synonym: "TETAMS1" EXACT OMO:0003012 [] synonym: "tetra-amelia syndrome 1" EXACT [] xref: GARD:5148 xref: MIM:273395 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112191 ! tetraamelia syndrome [Term] id: DOID:0112193 name: tetraamelia syndrome 2 def: "A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1." [url:https\://pubmed.ncbi.nlm.nih.gov/16283889/, url:https\://pubmed.ncbi.nlm.nih.gov/29769720/] subset: DO_rare_slim synonym: "TETAMS2" EXACT OMO:0003012 [] synonym: "tetra-amelia with pulmonary hypoplasia" EXACT [] synonym: "tetraamelia with pulmonary hypoplasia" EXACT [] xref: GARD:5147 xref: MIM:618021 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112191 ! tetraamelia syndrome [Term] id: DOID:0112194 name: Filippi syndrome def: "A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1." [url:https\://pubmed.ncbi.nlm.nih.gov/18553552/, url:https\://pubmed.ncbi.nlm.nih.gov/25439729/] subset: DO_rare_slim synonym: "Scott craniodigital syndrome with mental retardation" EXACT [] synonym: "type 1 syndactyly-microcephaly-intellectual disability syndrome" EXACT [] xref: GARD:62 xref: MESH:C538152 xref: MIM:272440 xref: ORDO:3255 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112195 name: spondyloperipheral dysplasia def: "An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11." [url:https\://pubmed.ncbi.nlm.nih.gov/15316962/, url:https\://pubmed.ncbi.nlm.nih.gov/8723097/] subset: DO_rare_slim synonym: "spondyloperipheral dysplasia-short ulna syndrome" EXACT [] xref: MIM:271700 xref: ORDO:1856 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0112196 name: spondylometaepiphyseal dysplasia, short limb-hand type def: "A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/31406622/, url:https\://pubmed.ncbi.nlm.nih.gov/8434618/] subset: DO_rare_slim synonym: "SMED short limb-abnormal calcification type" EXACT [] synonym: "SMED short limb-hand type" EXACT [] synonym: "SMED type 2" EXACT [] synonym: "SMED, type II" EXACT [] synonym: "SMED-SL" EXACT OMO:0003012 [] synonym: "SMED-SL/AC" EXACT OMO:0003012 [] synonym: "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome" EXACT [] synonym: "spondylometaepiphyseal dysplasia short limb-hand type" EXACT [] xref: GARD:10616 xref: MESH:C564794 xref: MIM:271665 xref: ORDO:93358 xref: UMLS_CUI:C1849011 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:0112197 name: spondyloepimetaphyseal dysplasia with joint laxity def: "A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility." [url:https\://pubmed.ncbi.nlm.nih.gov/30358852/] subset: DO_rare_slim synonym: "SEMDJL" EXACT OMO:0003012 [] xref: GARD:4982 xref: MESH:C562968 xref: MIM:PS271640 xref: ORDO:93359 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:0112198 name: spondyloepimetaphyseal dysplasia with joint laxity type 1 def: "A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33." [url:https\://pubmed.ncbi.nlm.nih.gov/10482874/] synonym: "SEMDJL1" EXACT OMO:0003012 [] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" EXACT [] xref: MIM:271640 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112197 ! spondyloepimetaphyseal dysplasia with joint laxity [Term] id: DOID:0112199 name: spondyloepimetaphyseal dysplasia with joint laxity type 2 def: "A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/19277648/, url:https\://pubmed.ncbi.nlm.nih.gov/22152677/] subset: DO_rare_slim synonym: "SEMD-MD" EXACT OMO:0003012 [] synonym: "SEMDJL2" EXACT OMO:0003012 [] synonym: "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" EXACT [] xref: MIM:603546 xref: ORDO:93360 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112197 ! spondyloepimetaphyseal dysplasia with joint laxity [Term] id: DOID:0112200 name: spondyloepimetaphyseal dysplasia with joint laxity type 3 def: "A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/26669664/] synonym: "SEMDJL3" EXACT OMO:0003012 [] xref: MIM:618395 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112197 ! spondyloepimetaphyseal dysplasia with joint laxity [Term] id: DOID:0112201 name: osteogenesis imperfecta type 21 def: "An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/33053334/] synonym: "OI21" EXACT OMO:0003012 [] synonym: "osteogenesis imperfecta type XXI" EXACT [] xref: MIM:619131 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0112202 name: developmental and epileptic encephalopathy def: "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood." [url:https\://pubmed.ncbi.nlm.nih.gov/28276062/, url:https\://pubmed.ncbi.nlm.nih.gov/31926847/] xref: MIM:PS308350 is_a: DOID:0050701 ! electroclinical syndrome [Term] id: DOID:0112203 name: developmental and epileptic encephalopathy 67 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12." [url:https\://pubmed.ncbi.nlm.nih.gov/29630738/] synonym: "DEE67" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 67" EXACT [] xref: MIM:618141 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112204 name: developmental and epileptic encephalopathy 68 def: "A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/28364549/] synonym: "DEE68" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 68" EXACT [] xref: MIM:618201 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112205 name: developmental and epileptic encephalopathy 69 def: "A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/30343943/] synonym: "DEE69" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 69" EXACT [] xref: MIM:618285 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112206 name: developmental and epileptic encephalopathy 70 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1." [url:https\://pubmed.ncbi.nlm.nih.gov/30256902/] synonym: "DEE70" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 70" EXACT [] xref: MIM:618298 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112207 name: developmental and epileptic encephalopathy 71 def: "A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2." [url:https\://pubmed.ncbi.nlm.nih.gov/30575854/] synonym: "DEE71" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 71" EXACT [] synonym: "glutaminase deficiency with neonatal epileptic encephalopathy" EXACT [] xref: MIM:618328 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112208 name: developmental and epileptic encephalopathy 72 def: "A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12." [url:https\://pubmed.ncbi.nlm.nih.gov/30323019/] synonym: "DEE72" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 72" EXACT [] xref: MIM:618374 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112209 name: developmental and epileptic encephalopathy 73 def: "A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1." [url:https\://pubmed.ncbi.nlm.nih.gov/30595371/] synonym: "DEE73" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 73" EXACT [] xref: MIM:618379 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112210 name: developmental and epileptic encephalopathy 74 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34." [url:https\://pubmed.ncbi.nlm.nih.gov/27864268/] synonym: "DEE74" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 74" EXACT [] xref: MIM:618396 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112211 name: developmental and epileptic encephalopathy 75 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3." [url:https\://pubmed.ncbi.nlm.nih.gov/29915213/] synonym: "DEE75" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 75" EXACT [] xref: MIM:618437 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112212 name: developmental and epileptic encephalopathy 76 def: "A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/31031012/] synonym: "DECAM" EXACT OMO:0003012 [] synonym: "DEE76" EXACT OMO:0003012 [] synonym: "developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination" EXACT [] synonym: "early infantile epileptic encephalopathy 76" EXACT [] xref: MIM:618468 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112213 name: multiple congenital anomalies-hypotonia-seizures syndrome 4 def: "A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/31148362/, url:https\://pubmed.ncbi.nlm.nih.gov/32588908/] synonym: "DEE77" EXACT OMO:0003012 [] synonym: "developmental and epileptic encephalopathy 77" EXACT [] synonym: "early infantile epileptic encephalopathy 77" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 19" EXACT [] synonym: "GPIBD19" EXACT OMO:0003012 [] synonym: "MCAHS4" EXACT OMO:0003012 [] xref: MIM:618548 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome [Term] id: DOID:0112214 name: developmental and epileptic encephalopathy 78 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12." [url:https\://pubmed.ncbi.nlm.nih.gov/29422393/, url:https\://pubmed.ncbi.nlm.nih.gov/29961870/] synonym: "DEE78" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 78" EXACT [] xref: MIM:618557 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112215 name: developmental and epileptic encephalopathy 79 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12." [url:https\://pubmed.ncbi.nlm.nih.gov/29961870/, url:https\://pubmed.ncbi.nlm.nih.gov/31056671/] synonym: "DEE79" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 79" EXACT [] xref: MIM:618559 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112216 name: developmental and epileptic encephalopathy 80 def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/31256876/] synonym: "DEE80" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 80" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 20" EXACT [] synonym: "GPIBD20" EXACT OMO:0003012 [] xref: MIM:618580 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112217 name: developmental and epileptic encephalopathy 81 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/30237576/, url:https\://pubmed.ncbi.nlm.nih.gov/31688942/] synonym: "DEE81" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 81" EXACT [] xref: MIM:618663 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112218 name: developmental and epileptic encephalopathy 83 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15." [url:https\://pubmed.ncbi.nlm.nih.gov/31820119/] synonym: "DEE83" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 83" EXACT [] xref: MIM:618744 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112219 name: developmental and epileptic encephalopathy 84 def: "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14." [url:https\://pubmed.ncbi.nlm.nih.gov/32001716/] synonym: "DEE84" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 84" EXACT [] synonym: "Jamuar syndrome" EXACT [] xref: MIM:618792 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112220 name: developmental and epileptic encephalopathy 86 def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31." [url:https\://pubmed.ncbi.nlm.nih.gov/32427860/] synonym: "DEE86" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 86" EXACT [] xref: MIM:618910 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112221 name: developmental and epileptic encephalopathy 87 def: "A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21." [url:https\://pubmed.ncbi.nlm.nih.gov/32330417/] synonym: "DEE87" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 87" EXACT [] xref: MIM:618916 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112222 name: developmental and epileptic encephalopathy 88 def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15." [url:https\://pubmed.ncbi.nlm.nih.gov/31538237/] synonym: "DEE88" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 88" EXACT [] xref: MIM:618959 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112223 name: developmental and epileptic encephalopathy 89 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1." [url:https\://pubmed.ncbi.nlm.nih.gov/32282878/] synonym: "DEE89" EXACT OMO:0003012 [] synonym: "early infantile epileptic encephalopathy 89" EXACT [] xref: MIM:619124 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112224 name: chondrodysplasia with joint dislocations gPAPP type def: "An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12." [url:https\://pubmed.ncbi.nlm.nih.gov/21549340/, url:https\://pubmed.ncbi.nlm.nih.gov/22887726/] subset: DO_rare_slim synonym: "gPAPP deficiency" EXACT [] xref: GARD:11009 xref: MIM:614078 xref: ORDO:280586 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0112225 name: BH4-deficient hyperphenylalaninemia B def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2." [url:https\://pubmed.ncbi.nlm.nih.gov/7869202/] subset: DO_rare_slim synonym: "GTP cyclohydrolase 1 deficiency" EXACT [] synonym: "HPABH4B" EXACT OMO:0003012 [] synonym: "tetrahydrobiopterin-deficient hyperphenylalaninemia B" EXACT [] xref: MIM:233910 xref: ORDO:2102 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia [Term] id: DOID:0112226 name: Bosch-Boonstra-Schaaf optic atrophy syndrome def: "A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15." [url:https\://pubmed.ncbi.nlm.nih.gov/24462372/] subset: DO_rare_slim synonym: "BBSOAS" EXACT OMO:0003012 [] synonym: "optic atrophy-intellectual disability syndrome" EXACT [] xref: MIM:615722 xref: ORDO:401777 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112227 name: tubulinopathy def: "A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes." [url:https\://pubmed.ncbi.nlm.nih.gov/24860126/, url:https\://pubmed.ncbi.nlm.nih.gov/31386652/, url:https\://www.ncbi.nlm.nih.gov/books/NBK350554/] is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:2490 ! congenital nervous system abnormality [Term] id: DOID:0112228 name: lissencephaly 9 with complex brainstem malformation def: "A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3." [url:https\://pubmed.ncbi.nlm.nih.gov/24507697/, url:https\://pubmed.ncbi.nlm.nih.gov/30471716/] subset: DO_rare_slim synonym: "LIS9" EXACT OMO:0003012 [] synonym: "posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome" EXACT [] xref: MIM:618325 xref: ORDO:572013 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0112229 name: lissencephaly 10 def: "A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31." [url:https\://pubmed.ncbi.nlm.nih.gov/32097630/] synonym: "LIS10" EXACT OMO:0003012 [] xref: MIM:618873 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0112230 name: lissencephaly 5 def: "A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1." [url:https\://pubmed.ncbi.nlm.nih.gov/23472759/, url:https\://pubmed.ncbi.nlm.nih.gov/25925986/] synonym: "LIS5" EXACT OMO:0003012 [] xref: MIM:615191 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0112231 name: lissencephaly 7 with cerebellar hypoplasia def: "A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1." [url:https\://pubmed.ncbi.nlm.nih.gov/25560765/] synonym: "LIS7" EXACT OMO:0003012 [] xref: MIM:616342 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0112232 name: lissencephaly 3 def: "A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12." [url:https\://pubmed.ncbi.nlm.nih.gov/17218254/, url:https\://pubmed.ncbi.nlm.nih.gov/30744660/] subset: DO_rare_slim synonym: "LIS3" EXACT OMO:0003012 [] xref: MESH:C566908 xref: MIM:611603 xref: ORDO:171680 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0112233 name: lissencephaly 8 def: "A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32." [url:https\://pubmed.ncbi.nlm.nih.gov/27773428/] synonym: "LIS8" EXACT OMO:0003012 [] xref: MIM:617255 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0112234 name: microlissencephaly def: "A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly." [url:https\://pubmed.ncbi.nlm.nih.gov/9588537/] subset: DO_rare_slim xref: ORDO:1083 is_a: DOID:0050453 ! lissencephaly [Term] id: DOID:0112235 name: lissencephaly 4 def: "A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11." [url:https\://pubmed.ncbi.nlm.nih.gov/21529751/, url:https\://pubmed.ncbi.nlm.nih.gov/21529752/] synonym: "LIS4" EXACT OMO:0003012 [] synonym: "lissencephaly 4 with microcephaly" EXACT [] xref: MIM:614019 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112234 ! microlissencephaly [Term] id: DOID:0112236 name: lissencephaly 6 def: "A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the KATNB1 gene on chromosome 16q21." [url:https\://pubmed.ncbi.nlm.nih.gov/25521378/, url:https\://pubmed.ncbi.nlm.nih.gov/25521379/] synonym: "LIS6" EXACT OMO:0003012 [] xref: MIM:616212 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112234 ! microlissencephaly [Term] id: DOID:0112237 name: lissencephaly 1 def: "A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/11754098/, url:https\://pubmed.ncbi.nlm.nih.gov/12668601/] subset: DO_rare_slim synonym: "LIS1" EXACT OMO:0003012 [] synonym: "PAFAH1B1-related lissencephaly" EXACT [] xref: MIM:607432 xref: ORDO:95232 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0112238 name: X-linked lissencephaly 2 def: "A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3." [url:https\://pubmed.ncbi.nlm.nih.gov/11891829/, url:https\://pubmed.ncbi.nlm.nih.gov/12379852/] subset: DO_rare_slim synonym: "X-linked lissencephaly with abnormal genitalia" EXACT [] synonym: "X-linked lissencephaly with ambiguous genitalia" EXACT [] synonym: "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome" EXACT [] synonym: "XLAG" EXACT OMO:0003012 [] synonym: "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome" EXACT [] synonym: "XLIS2" EXACT OMO:0003012 [] xref: MIM:300215 xref: ORDO:452 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:0112239 name: X-linked lissencephaly 1 def: "A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23." [url:https\://pubmed.ncbi.nlm.nih.gov/9132485/, url:https\://pubmed.ncbi.nlm.nih.gov/9489699/] synonym: "lissencephaly type 1 due to doublecortin gene mutation" EXACT [] synonym: "XLIS1" EXACT OMO:0003012 [] xref: MIM:300067 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:0112240 name: Leber congenital amaurosis with early-onset deafness def: "A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3." [url:https\://pubmed.ncbi.nlm.nih.gov/29198720/] synonym: "LCAEOD" EXACT OMO:0003012 [] xref: MIM:617879 is_a: DOID:0050155 ! sensory system disease is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0112241 name: multiple benign circumferential skin creases on limbs def: "A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin." [url:https\://pubmed.ncbi.nlm.nih.gov/26637975/] subset: DO_rare_slim synonym: "CCSF" EXACT OMO:0003012 [] synonym: "circumferential skin creases, Kunze type" EXACT [] synonym: "congenital circumferential skin folds" EXACT [] synonym: "Kunze-Riehm syndrome" EXACT [] xref: GARD:3589 xref: MIM:PS156610 xref: ORDO:2505 is_a: DOID:37 ! skin disease property_value: exactMatch "GARD:3589" xsd:string property_value: exactMatch "MIM:PS156610" xsd:string [Term] id: DOID:0112242 name: congenital symmetric circumferential skin creases 1 def: "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33." [url:https\://pubmed.ncbi.nlm.nih.gov/26637975/] synonym: "CSCSC1" EXACT OMO:0003012 [] xref: MIM:156610 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112241 ! multiple benign circumferential skin creases on limbs [Term] id: DOID:0112243 name: congenital symmetric circumferential skin creases 2 def: "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2." [url:https\://pubmed.ncbi.nlm.nih.gov/26637975/] synonym: "CSCSC2" EXACT OMO:0003012 [] xref: MIM:616734 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112241 ! multiple benign circumferential skin creases on limbs [Term] id: DOID:0112244 name: alopecia, neurologic defects, and endocrinopathy syndrome def: "A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1." [url:https\://pubmed.ncbi.nlm.nih.gov/18439547/] subset: DO_rare_slim synonym: "alopecia-progressive neurological defect-endocrinopathy syndrome" EXACT [] synonym: "ANE syndrome" EXACT [] synonym: "ANES" EXACT OMO:0003012 [] xref: MESH:C567425 xref: MIM:612079 xref: ORDO:157954 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112245 name: focal segmental glomerulosclerosis 3 def: "A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3." [url:https\://pubmed.ncbi.nlm.nih.gov/12764198/] synonym: "FSGS3" EXACT OMO:0003012 [] xref: MIM:607832 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:0112246 name: glutaric acidemia type 3 def: "A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1." [url:https\://pubmed.ncbi.nlm.nih.gov/23893049/] subset: DO_rare_slim synonym: "GA III" EXACT OMO:0003012 [] synonym: "GA3" EXACT OMO:0003012 [] synonym: "glutaric aciduria 3" EXACT [] synonym: "glutaric aciduria III" EXACT [] synonym: "glutaric aciduria type 3" EXACT [] synonym: "glutaryl-CoA oxidase deficiency" EXACT [] xref: GARD:12469 xref: MIM:231690 xref: ORDO:35706 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0112247 name: congenital heart defects, dysmorphic facial features, and intellectual developmental disorder def: "A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1." [url:https\://pubmed.ncbi.nlm.nih.gov/27479907/, url:https\://pubmed.ncbi.nlm.nih.gov/29021403/, url:https\://www.ncbi.nlm.nih.gov/books/NBK536784/] synonym: "CDK13-Related CHDFIDD" EXACT [] synonym: "CDK13-Related Disorder" EXACT [] synonym: "CHDFIDD" EXACT OMO:0003012 [] xref: MIM:617360 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112248 name: 17-beta hydroxysteroid dehydrogenase 3 deficiency def: "A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22." [url:https\://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/, url:https\://pubmed.ncbi.nlm.nih.gov/11158067/, url:https\://pubmed.ncbi.nlm.nih.gov/8550739/] subset: DO_rare_slim synonym: "17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT [] synonym: "17-ketoreductase deficiency" EXACT [] synonym: "17-ketosteroidreductase deficiency" EXACT [] synonym: "17-KSR deficiency" EXACT [] synonym: "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT [] synonym: "male pseudohermaphroditism with gynecomastia" EXACT [] synonym: "neutral 17-beta-hydroxysteroid oxidoreductase deficiency" EXACT [] xref: GARD:5659 xref: MIM:264300 xref: ORDO:752 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3765 ! pseudohermaphroditism [Term] id: DOID:0112249 name: GAPO syndrome def: "A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/25045128/, url:https\://pubmed.ncbi.nlm.nih.gov/6507471/] subset: DO_rare_slim synonym: "growth delay-alopecia-pseudoanodontia-optic atrophy syndrome" EXACT [] xref: MIM:230740 xref: ORDO:2067 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112250 name: Gaucher's disease type IIIC def: "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." [url:https\://pubmed.ncbi.nlm.nih.gov/10636167/] subset: DO_rare_slim synonym: "cardiovascular Gaucher disease" EXACT [] synonym: "Gaucher disease type 3C" EXACT [] synonym: "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" EXACT [] synonym: "Gaucher-like disease" EXACT [] synonym: "GD3C" EXACT OMO:0003012 [] xref: MIM:231005 xref: ORDO:2072 is_a: DOID:0110959 ! Gaucher's disease type III [Term] id: DOID:0112251 name: Ghosal hematodiaphyseal syndrome def: "A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34." [url:https\://medlineplus.gov/genetics/condition/ghosal-hematodiaphyseal-dysplasia/, url:https\://pubmed.ncbi.nlm.nih.gov/18264100/, url:https\://pubmed.ncbi.nlm.nih.gov/3385529/] subset: DO_rare_slim synonym: "diaphyseal dysplasia-anemia syndrome" EXACT [] synonym: "Ghosal hematodiaphyseal dysplasia" EXACT [] synonym: "Ghosal syndrome" EXACT [] xref: GARD:10297 xref: MIM:231095 xref: ORDO:1802 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112252 name: glutathione synthetase deficiency of erythrocytes def: "A glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22." [url:https\://pubmed.ncbi.nlm.nih.gov/5476481/, url:https\://pubmed.ncbi.nlm.nih.gov/659603/, url:https\://pubmed.ncbi.nlm.nih.gov/8896573/] subset: DO_rare_slim synonym: "glutathione synthetase deficiency without 5-oxoprolinuria" EXACT [] xref: MIM:231900 xref: ORDO:289849 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080699 ! glutathione synthetase deficiency [Term] id: DOID:0112253 name: combined cellular and humoral immune defects with granulomas def: "A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12." [url:https\://pubmed.ncbi.nlm.nih.gov/18463379/] subset: DO_rare_slim synonym: "CCHIDG" EXACT OMO:0003012 [] synonym: "CID due to RAG 1/2 deficiency" EXACT [] synonym: "combined immunodeficiency due to RAG 1/2 deficiency" EXACT [] synonym: "combined immunodeficiency with granulomatosis" EXACT [] synonym: "combined immunodeficiency with skin granulomas" EXACT [] xref: GARD:13587 xref: MESH:C567115 xref: MIM:233650 xref: ORDO:157949 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:0112254 name: hepatic venoocclusive disease with immunodeficiency def: "A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1." [url:https\://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency/, url:https\://pubmed.ncbi.nlm.nih.gov/16648851/] subset: DO_rare_slim synonym: "hepatic veno-occlusive disease-immunodeficiency syndrome" EXACT [] synonym: "VODI" EXACT OMO:0003012 [] xref: GARD:10083 xref: MESH:C537257 xref: MIM:235550 xref: ORDO:79124 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112255 name: homocystinuria-megaloblastic anemia cblE type def: "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31." [url:https\://pubmed.ncbi.nlm.nih.gov/3384945/] subset: DO_rare_slim synonym: "functional methionine synthase deficiency type cblE" EXACT [] synonym: "HMAE" EXACT OMO:0003012 [] synonym: "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type" EXACT [] synonym: "methylcobalamin deficiency, cblE type" EXACT [] synonym: "vitamin B12-responsive homocystinuria, cblE type" EXACT [] xref: MIM:236270 xref: ORDO:2169 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0112256 name: homocystinuria-megaloblastic anemia cblG type def: "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43." [url:https\://pubmed.ncbi.nlm.nih.gov/3384945/, url:https\://pubmed.ncbi.nlm.nih.gov/8968737/] subset: DO_rare_slim synonym: "HMAG" EXACT OMO:0003012 [] synonym: "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type" EXACT [] synonym: "homocystinuria-megaloblastic anemia, cblG complementation type" EXACT [] synonym: "methylcobalamin deficiency, cblG type" EXACT [] xref: GARD:3577 xref: MIM:250940 xref: ORDO:2170 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0112257 name: hydroxykynureninuria def: "An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2." [url:https\://pubmed.ncbi.nlm.nih.gov/17334708/] subset: DO_rare_slim synonym: "kynureninase deficiency" EXACT [] synonym: "xanthurenic aciduria" EXACT [] xref: GARD:10039 xref: MESH:C536081 xref: MIM:236800 xref: ORDO:79155 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0112258 name: N-acetylglutamate synthase deficiency def: "A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31." [url:https\://pubmed.ncbi.nlm.nih.gov/12594532/, url:https\://pubmed.ncbi.nlm.nih.gov/3139931/] subset: DO_rare_slim synonym: "hyperammonemia due to N-acetylglutamate synthase deficiency" EXACT [] synonym: "N-acetyl glutamate synthetase deficiency" EXACT [] synonym: "N-acetylglutamate synthetase deficiency" EXACT [] synonym: "NAG synthetase deficiency" EXACT [] synonym: "NAGS deficiency" EXACT [] xref: GARD:7158 xref: MIM:237310 xref: ORDO:927 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9267 ! urea cycle disorder [Term] id: DOID:0112259 name: Leydig cell hypoplasia def: "A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3." [url:https\://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia/, url:https\://pubmed.ncbi.nlm.nih.gov/7719343/] subset: DO_rare_slim synonym: "46,XY disorder of sex development due to LH resistance or LHB deficiency" EXACT [] synonym: "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [] synonym: "46,XY DSD due to LH resistance or LHB deficiency" EXACT [] synonym: "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [] xref: GARD:3244 xref: MEDDRA:10024406 xref: MESH:C562567 xref: ORDO:755 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3765 ! pseudohermaphroditism [Term] id: DOID:0112260 name: Leydig cell hypoplasia type I def: "A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3." [url:https\://pubmed.ncbi.nlm.nih.gov/10714363/, url:https\://pubmed.ncbi.nlm.nih.gov/11041448/] subset: DO_rare_slim synonym: "46,XY disorder of sex development due to complete LH receptor inactivation" EXACT [] synonym: "46,XY disorder of sex development due to complete LH resistance" EXACT [] synonym: "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation" EXACT [] synonym: "46,XY disorder of sex development due to complete luteinizing hormone resistance" EXACT [] synonym: "46,XY DSD due to complete LH receptor inactivation" EXACT [] synonym: "46,XY DSD due to complete LH resistance" EXACT [] synonym: "46,XY DSD due to complete luteinizing hormone receptor inactivation" EXACT [] synonym: "46,XY DSD due to complete luteinizing hormone resistance" EXACT [] synonym: "Leydig cell hypoplasia due to complete LH receptor inactivation" EXACT [] synonym: "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation" EXACT [] synonym: "Leydig cell hypoplasia due to complete luteinizing hormone resistance" EXACT [] xref: MIM:238320 xref: ORDO:96265 is_a: DOID:0112259 ! Leydig cell hypoplasia [Term] id: DOID:0112261 name: Leydig cell hypoplasia type II def: "A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3." [url:https\://pubmed.ncbi.nlm.nih.gov/11041448/] subset: DO_rare_slim synonym: "46,XY disorder of sex development due to partial LH receptor inactivation" EXACT [] synonym: "46,XY disorder of sex development due to partial LH resistance" EXACT [] synonym: "46,XY disorder of sex development due to partial luteinizing hormone resistance" EXACT [] synonym: "46,XY DSD due to partial LH receptor inactivation" EXACT [] synonym: "46,XY DSD due to partial LH resistance" EXACT [] synonym: "46,XY DSD due to partial luteinizing hormone resistance" EXACT [] synonym: "Leydig cell hypoplasia due to partial LH receptor inactivation" EXACT [] synonym: "Leydig cell hypoplasia due to partial LH resistance" EXACT [] synonym: "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation" EXACT [] synonym: "Leydig cell hypoplasia due to partial luteinizing hormone resistance" EXACT [] xref: ORDO:96266 is_a: DOID:0112259 ! Leydig cell hypoplasia [Term] id: DOID:0112262 name: leucine-sensitive hypoglycemia of infancy def: "An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1." [url:https\://pubmed.ncbi.nlm.nih.gov/15356046/] subset: DO_rare_slim synonym: "leucine-induced hypoglycemia" EXACT [] synonym: "LIH" EXACT OMO:0003012 [] xref: GARD:9915 xref: MIM:240800 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9252 ! amino acid metabolic disorder is_a: DOID:9993 ! hypoglycemia [Term] id: DOID:0112263 name: hypoinsulinemic hypoglycemia with hemihypertrophy def: "An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/21979934/] subset: DO_rare_slim synonym: "HIHGHH" EXACT OMO:0003012 [] synonym: "hypoinsulinemic hypoglycemia and body hemihypertrophy" EXACT [] xref: MIM:240900 xref: ORDO:293964 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9993 ! hypoglycemia [Term] id: DOID:0112264 name: Woodhouse-Sakati syndrome def: "A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1." [url:https\://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/19026396/, url:https\://pubmed.ncbi.nlm.nih.gov/6876115/] subset: DO_rare_slim synonym: "diabetes-hypogonadism-deafness-intellectual disability syndrome" EXACT [] synonym: "diabetes-hypogonadism-hearing loss-intellectual disability syndrome" EXACT [] synonym: "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome" EXACT [] synonym: "progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia" EXACT [] xref: GARD:5592 xref: MESH:C536742 xref: MIM:241080 xref: ORDO:3464 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112265 name: iminoglycinuria def: "A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33." [url:https\://pubmed.ncbi.nlm.nih.gov/19033659/] subset: DO_rare_slim xref: GARD:8424 xref: MESH:C536285 xref: MIM:242600 xref: ORDO:42062 is_a: DOID:0080578 ! digenic disease is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0112266 name: nephrotic syndrome type 23 def: "A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1." [url:https\://pubmed.ncbi.nlm.nih.gov/31472902/] synonym: "NPHS23" EXACT OMO:0003012 [] xref: MIM:619201 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0112267 name: nephrotic syndrome type 21 def: "A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1." [url:https\://pubmed.ncbi.nlm.nih.gov/29058690/] synonym: "NPHS21" EXACT OMO:0003012 [] xref: MIM:618594 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0112268 name: nephrotic syndrome type 22 def: "A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/33523862/] synonym: "NPHS22" EXACT OMO:0003012 [] xref: MIM:619155 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0112269 name: primary ovarian insufficiency 18 def: "A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1." [url:https\://pubmed.ncbi.nlm.nih.gov/33508233/] synonym: "POF18" EXACT OMO:0003012 [] synonym: "premature ovarian failure 18" EXACT [] xref: MIM:619203 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0112270 name: spermatogenic failure 52 def: "A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1." [url:https\://pubmed.ncbi.nlm.nih.gov/33508233/] synonym: "SPGF52" EXACT OMO:0003012 [] xref: MIM:619202 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112271 name: spermatogenic failure 49 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1." [url:https\://pubmed.ncbi.nlm.nih.gov/32791035/] synonym: "SPGF98" EXACT OMO:0003012 [] xref: MIM:619144 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112272 name: spermatogenic failure 50 def: "A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC2 gene on chromosome 7q36.1." [url:https\://pubmed.ncbi.nlm.nih.gov/30042186/] synonym: "SPGF50" EXACT OMO:0003012 [] xref: MIM:619145 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112273 name: spermatogenic failure 51 def: "A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene on chromosome 3q13.33." [url:https\://pubmed.ncbi.nlm.nih.gov/32161152/] synonym: "SPGF51" EXACT OMO:0003012 [] xref: MIM:619177 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112274 name: X-linked spermatogenic failure 3 def: "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1." [url:https\://pubmed.ncbi.nlm.nih.gov/33472045/] synonym: "SPGFX3" EXACT OMO:0003012 [] xref: MIM:301059 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112275 name: developmental and epileptic encephalopathy 93 def: "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31." [url:https\://pubmed.ncbi.nlm.nih.gov/29668857/] synonym: "DEE93" EXACT OMO:0003012 [] synonym: "IECEE3" EXACT OMO:0003012 [] synonym: "infantile or early childhood epileptic encephalopathy 3" EXACT [] xref: MIM:618012 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0112276 name: neurodevelopmental disorder with involuntary movements def: "A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13." [url:https\://pubmed.ncbi.nlm.nih.gov/27068059/, url:https\://pubmed.ncbi.nlm.nih.gov/28357411/] synonym: "NEDIM" EXACT OMO:0003012 [] xref: MIM:617493 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:480 ! movement disease [Term] id: DOID:0112277 name: immunodeficiency 79 def: "A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13." [url:https\://pubmed.ncbi.nlm.nih.gov/31781092/, url:https\://pubmed.ncbi.nlm.nih.gov/33471124/] synonym: "IMD79" EXACT OMO:0003012 [] xref: MIM:619238 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency [Term] id: DOID:0112278 name: primary ovarian insufficiency 19 def: "A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22." [url:https\://pubmed.ncbi.nlm.nih.gov/32845237/] synonym: "POF19" EXACT OMO:0003012 [] synonym: "POI19" EXACT OMO:0003012 [] synonym: "premature ovarian failure 19" EXACT [] xref: MIM:619245 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:0112279 name: spermatogenic failure 53 def: "A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/33626338/] synonym: "SPGF53" EXACT OMO:0003012 [] xref: MIM:619258 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112280 name: spondyloepiphyseal dysplasia def: "An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs." [url:https\://emedicine.medscape.com/article/1260836-overview, url:https\://pubmed.ncbi.nlm.nih.gov/16080123/] subset: DO_rare_slim synonym: "SED" EXACT OMO:0003012 [] xref: GARD:7687 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0112281 name: spondyloepiphyseal dysplasia Stanescu type def: "A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11." [url:https\://pubmed.ncbi.nlm.nih.gov/26183434/, url:https\://pubmed.ncbi.nlm.nih.gov/6430256/, url:https\://pubmed.ncbi.nlm.nih.gov/9592900/] subset: DO_rare_slim synonym: "SED Stanescu type" EXACT [] synonym: "SEDSTN" EXACT OMO:0003012 [] xref: MIM:616583 xref: ORDO:459051 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia [Term] id: DOID:0112282 name: spondyloepiphyseal dysplasia Kimberley type def: "A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1." [url:https\://pubmed.ncbi.nlm.nih.gov/16080123/, url:https\://pubmed.ncbi.nlm.nih.gov/1978986/] subset: DO_rare_slim synonym: "SEDK" EXACT OMO:0003012 [] xref: MESH:C564252 xref: MIM:608361 xref: ORDO:93283 xref: SNOMEDCT_US_2023_03_01:719203001 xref: UMLS_CUI:C1842149 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia [Term] id: DOID:0112283 name: spondyloepiphyseal dysplasia Kondo-Fu type def: "A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1." [url:https\://pubmed.ncbi.nlm.nih.gov/30046013/] synonym: "SED with elevated blood lysosomal enzymes" EXACT [] synonym: "SEDKF" EXACT OMO:0003012 [] xref: MIM:618392 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia [Term] id: DOID:0112284 name: spondyloepiphyseal dysplasia tarda def: "A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth." [url:https\://medlineplus.gov/genetics/condition/x-linked-spondyloepiphyseal-dysplasia-tarda/, url:https\://pubmed.ncbi.nlm.nih.gov/3213464/] subset: DO_rare_slim xref: ORDO:93284 is_a: DOID:0112280 ! spondyloepiphyseal dysplasia [Term] id: DOID:0112285 name: autosomal dominant spondyloepiphyseal dysplasia tarda def: "A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13." [url:https\://pubmed.ncbi.nlm.nih.gov/1353665/, url:https\://pubmed.ncbi.nlm.nih.gov/3213464/] subset: DO_rare_slim xref: GARD:10624 xref: MIM:184100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda [Term] id: DOID:0112286 name: spondyloepiphyseal dysplasia with punctate corneal dystrophy def: "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma." [url:https\://pubmed.ncbi.nlm.nih.gov/414988/] xref: MESH:C566660 xref: MIM:183850 is_a: DOID:0112280 ! spondyloepiphyseal dysplasia [Term] id: DOID:0112287 name: spondyloepiphyseal dysplasia-brachydactyly and distinctive speech def: "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech." [url:https\://pubmed.ncbi.nlm.nih.gov/17515304/] subset: DO_rare_slim synonym: "Fantasy Island syndrome" EXACT [] synonym: "SED-BDS" EXACT OMO:0003012 [] synonym: "SED-brachydactyly and distinctive speech" EXACT [] synonym: "spondyloepiphyseal dysplasia, Cantu type" EXACT [] synonym: "Tattoo dysplasia" EXACT [] xref: GARD:10629 xref: MESH:C567128 xref: MIM:611717 xref: ORDO:163654 xref: SNOMEDCT_US_2023_03_01:718765003 xref: UMLS_CUI:C2673649 is_a: DOID:0112280 ! spondyloepiphyseal dysplasia [Term] id: DOID:0112288 name: spondyloepiphyseal dysplasia Nishimura type def: "A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/30804514/] synonym: "SEDN" EXACT OMO:0003012 [] xref: MIM:618618 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia [Term] id: DOID:0112289 name: spondyloepiphyseal dysplasia tarda with characteristic facies def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay." [url:https\://pubmed.ncbi.nlm.nih.gov/8298734/] xref: MESH:C564003 xref: MIM:600093 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda [Term] id: DOID:0112290 name: spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis def: "A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22." [url:https\://pubmed.ncbi.nlm.nih.gov/32533184/, url:https\://pubmed.ncbi.nlm.nih.gov/33668384/] synonym: "SHILCA syndrome" EXACT [] xref: MIM:619260 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112291 name: autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities." [url:https\://pubmed.ncbi.nlm.nih.gov/14755466/] xref: MIM:609223 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda [Term] id: DOID:0112292 name: spondyloepiphyseal dysplasia tarda with intellectual disability def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability." [url:https\://pubmed.ncbi.nlm.nih.gov/3612708/] subset: DO_rare_slim xref: MESH:C564796 xref: MIM:271620 xref: ORDO:163665 xref: UMLS_CUI:C1849053 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda [Term] id: DOID:0112293 name: autosomal recessive spondyloepiphyseal dysplasia tarda def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease." [url:https\://pubmed.ncbi.nlm.nih.gov/19994087/] xref: MIM:271600 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda [Term] id: DOID:0112294 name: spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability def: "A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability." [url:https\://pubmed.ncbi.nlm.nih.gov/9557884/] subset: DO_rare_slim xref: MIM:602611 xref: ORDO:163649 is_a: DOID:225 ! syndrome [Term] id: DOID:0112295 name: spondylometaphyseal dysplasia def: "An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions." [url:https\://pubmed.ncbi.nlm.nih.gov/16752352/] subset: DO_rare_slim xref: ORDO:254 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0112296 name: spondylometaphyseal dysplasia Algerian type def: "A spondylometaphyseal dysplasia characterized by dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet." [url:https\://pubmed.ncbi.nlm.nih.gov/3368247/] subset: DO_rare_slim synonym: "spondylometaphyseal dysplasia with severe genu valgum" EXACT [] synonym: "spondylometaphyseal dysplasia, Schmidt type" EXACT [] xref: GARD:504 xref: MESH:C535794 xref: MIM:184253 xref: ORDO:93316 xref: SNOMEDCT_US_2023_03_01:719304005 xref: UMLS_CUI:C1866688 is_a: DOID:0112295 ! spondylometaphyseal dysplasia [Term] id: DOID:0112297 name: spondylometaphyseal dysplasia corner fracture type def: "A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35." [url:https\://pubmed.ncbi.nlm.nih.gov/2343127/, url:https\://pubmed.ncbi.nlm.nih.gov/29100092/] subset: DO_rare_slim synonym: "SMDCF" EXACT OMO:0003012 [] synonym: "spondylometaphyseal dysplasia Sutcliffe type" EXACT [] xref: GARD:4991 xref: MESH:C535793 xref: MIM:184255 xref: ORDO:93315 xref: SNOMEDCT_US_2023_03_01:254078005 xref: UMLS_CUI:C0432221 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia [Term] id: DOID:0112298 name: spondylometaphyseal dysplasia Sedaghatian type def: "A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/24706940/] subset: DO_rare_slim synonym: "congenital lethal metaphyseal chondrodysplasia" EXACT [] synonym: "Sedaghatian chondrodysplasia" EXACT [] synonym: "SMDS" EXACT OMO:0003012 [] xref: GARD:4993 xref: MESH:C535798 xref: MIM:250220 xref: ORDO:93317 xref: UMLS_CUI:C1855229 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia [Term] id: DOID:0112299 name: axial spondylometaphyseal dysplasia def: "A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3." [url:https\://pubmed.ncbi.nlm.nih.gov/21910225/, url:https\://pubmed.ncbi.nlm.nih.gov/26167768/] subset: DO_rare_slim synonym: "SMD axial" EXACT [] synonym: "SMDAX" EXACT OMO:0003012 [] xref: GARD:8720 xref: MESH:C535795 xref: MIM:602271 xref: ORDO:168549 xref: SNOMEDCT_US_2023_03_01:771301002 xref: UMLS_CUI:C1865695 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia [Term] id: DOID:0112300 name: spondylometaphyseal dysplasia with cone-rod dystrophy def: "A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29." [url:https\://pubmed.ncbi.nlm.nih.gov/15326626/, url:https\://pubmed.ncbi.nlm.nih.gov/24387990/] subset: DO_rare_slim synonym: "SMD-CRD" EXACT OMO:0003012 [] synonym: "SMDCRD" EXACT OMO:0003012 [] synonym: "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" EXACT [] xref: GARD:10647 xref: MESH:C563825 xref: MIM:608940 xref: ORDO:85167 xref: UMLS_CUI:C1837073 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia [Term] id: DOID:0112301 name: spondylometaphyseal dysplasia type A4 def: "A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities." [url:https\://pubmed.ncbi.nlm.nih.gov/1870931/, url:https\://pubmed.ncbi.nlm.nih.gov/9637426/] subset: DO_rare_slim xref: GARD:458 xref: MESH:C563803 xref: MIM:609052 xref: ORDO:168555 xref: SNOMEDCT_US_2023_03_01:782912001 xref: UMLS_CUI:C1836862 is_a: DOID:0112295 ! spondylometaphyseal dysplasia [Term] id: DOID:0112302 name: spondylometaphyseal dysplasia East African type def: "A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies." [url:https\://pubmed.ncbi.nlm.nih.gov/12457408/] subset: DO_rare_slim xref: GARD:4992 xref: MIM:611702 is_a: DOID:0112295 ! spondylometaphyseal dysplasia [Term] id: DOID:0112303 name: spondylometaphyseal dysplasia with corneal dystrophy def: "A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/29122926/] synonym: "SMDCD" EXACT OMO:0003012 [] xref: MIM:618961 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia [Term] id: DOID:0112304 name: spondylometaphyseal dysplasia Megarbane-Dagher-Melike type def: "A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/24786642/] subset: DO_rare_slim synonym: "Megarbane-Dagher-Melike type chondrodysplasia" EXACT [] synonym: "SMDMDM" EXACT OMO:0003012 [] xref: MIM:613320 xref: ORDO:401979 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia [Term] id: DOID:0112305 name: spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism def: "A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia." [url:https\://pubmed.ncbi.nlm.nih.gov/12503112/] subset: DO_rare_slim synonym: "SMD with bowed forearms and facial dysmorphism" EXACT [] synonym: "spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome" EXACT [] xref: GARD:8719 xref: MESH:C535791 xref: MIM:607543 xref: ORDO:168552 xref: UMLS_CUI:C1843706 is_a: DOID:0112295 ! spondylometaphyseal dysplasia [Term] id: DOID:0112306 name: Mahvash Disease def: "An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/29702528/] subset: DO_rare_slim synonym: "GCGR-related hyperglucagonemia" EXACT [] synonym: "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor" EXACT [] xref: GARD:10460 xref: MIM:619290 xref: ORDO:438274 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1428 ! endocrine pancreas disease property_value: exactMatch "MIM:619290" xsd:string [Term] id: DOID:0112307 name: sarcosinemia def: "An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2." [url:https\://pubmed.ncbi.nlm.nih.gov/22825317/, url:https\://pubmed.ncbi.nlm.nih.gov/5936868/] subset: DO_rare_slim synonym: "demethylation defect of N-methylglycine" EXACT [] synonym: "SARCOS" EXACT OMO:0003012 [] synonym: "sarcosine dehydrogenase complex deficiency" EXACT [] synonym: "SARD deficiency" EXACT [] synonym: "SARDH deficiency" EXACT [] xref: GARD:158 xref: ICD10CM:E72.59 xref: MEDDRA:10059299 xref: MESH:C537236 xref: MIM:268900 xref: ORDO:3129 xref: SNOMEDCT_US_2023_03_01:64852002 xref: UMLS_CUI:C0268563 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0112308 name: central precocious puberty def: "An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys." [url:https\://pubmed.ncbi.nlm.nih.gov/23738509/, url:https\://pubmed.ncbi.nlm.nih.gov/30086862/] subset: DO_rare_slim subset: NCIthesaurus synonym: "CPP" EXACT OMO:0003012 [] synonym: "gonadotropin-dependant precocious puberty" EXACT [] xref: ICD10CM:E22.8 xref: MESH:D011629 xref: NCI:C113217 xref: ORDO:759 xref: SNOMEDCT_US_2023_03_01:237816004 xref: UMLS_CUI:C0342543 is_a: DOID:28 ! endocrine system disease [Term] id: DOID:0112309 name: central precocious puberty 2 def: "A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/23738509/] synonym: "CPPB2" EXACT OMO:0003012 [] xref: MIM:615346 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112308 ! central precocious puberty [Term] id: DOID:0112310 name: central precocious puberty 1 def: "A central precocious puberty that has_material_basis_in heterozygous mutation in the KISS1R gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/18272894/] synonym: "CPPB1" EXACT OMO:0003012 [] xref: MIM:176400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112308 ! central precocious puberty [Term] id: DOID:0112311 name: male infertility due to acephalic spermatozoa def: "A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads." [url:https\://pubmed.ncbi.nlm.nih.gov/27640305/] subset: DO_rare_slim xref: ORDO:529970 is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112312 name: male infertility due to globozoospermia def: "A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects." [url:https\://pubmed.ncbi.nlm.nih.gov/3338587/] subset: DO_rare_slim synonym: "globozoospermia syndrome" EXACT [] xref: GARD:12502 xref: ORDO:171709 is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112313 name: brain small vessel disease def: "A brain disease characterized by abnormalities in the small blood vessels in the brain." [url:https\://pubmed.ncbi.nlm.nih.gov/16598045/] xref: MIM:PS175780 is_a: DOID:936 ! brain disease [Term] id: DOID:0112314 name: brain small vessel disease 2 def: "A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34." [url:https\://pubmed.ncbi.nlm.nih.gov/22209246/] synonym: "BSVD2" EXACT OMO:0003012 [] synonym: "porencephaly 2" EXACT [] xref: MIM:614483 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112313 ! brain small vessel disease [Term] id: DOID:0112315 name: brain small vessel disease 3 def: "A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11." [url:https\://pubmed.ncbi.nlm.nih.gov/30412317/] synonym: "BSVD3" EXACT OMO:0003012 [] xref: MIM:618360 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112313 ! brain small vessel disease [Term] id: DOID:0112316 name: methemoglobinemia and ambiguous genitalia def: "A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3." [url:https\://pubmed.ncbi.nlm.nih.gov/20080843/, url:https\://pubmed.ncbi.nlm.nih.gov/22170710/] synonym: "METAG" EXACT OMO:0003012 [] synonym: "methemoglobinemia due to deficiency of cytochrome b5" EXACT [] synonym: "methemoglobinemia type IV" EXACT [] synonym: "pure isolated 17,20-lyase deficiency" EXACT [] xref: MIM:250790 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1923 ! disorder of sexual development [Term] id: DOID:0112317 name: Schindler disease def: "A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/3149698/] subset: DO_rare_slim synonym: "alpha-N-acetylgalactosaminidase deficiency" EXACT [] synonym: "NAGA deficiency" EXACT [] xref: ORDO:3137 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:0112318 name: Schindler disease type 1 def: "A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/2889023/] subset: DO_rare_slim synonym: "alpha-N-acetylgalactosaminidase deficiency type 1" EXACT [] synonym: "NAGA deficiency type 1" EXACT [] xref: GARD:116 xref: MIM:609241 xref: ORDO:79279 is_a: DOID:0112317 ! Schindler disease [Term] id: DOID:0112319 name: Kanzaki disease def: "A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13." [url:https\://pubmed.ncbi.nlm.nih.gov/2564952/] subset: DO_rare_slim synonym: "adult-onset alpha-N-acetylgalactosaminidase deficiency" EXACT [] synonym: "alpha-N-acetylgalactosaminidase deficiency type 2" EXACT [] synonym: "NAGA deficiency type 2" EXACT [] xref: GARD:9161 xref: MIM:609242 xref: ORDO:79280 is_a: DOID:0112317 ! Schindler disease [Term] id: DOID:0112320 name: Schindler disease type 3 def: "A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/8071745/] subset: DO_rare_slim synonym: "alpha-N-acetylgalactosaminidase deficiency type 3" EXACT [] synonym: "NAGA deficiency type 3" EXACT [] xref: GARD:3903 xref: ORDO:79281 is_a: DOID:0112317 ! Schindler disease [Term] id: DOID:0112321 name: alacrima, achalasia, and impaired intellectual development syndrome def: "A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35." [url:https\://pubmed.ncbi.nlm.nih.gov/24035193/] synonym: "AAMR" EXACT OMO:0003012 [] synonym: "alacrima, achalasia, and mental retardation syndrome" EXACT [] xref: MIM:615510 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5212 ! congenital disorder of glycosylation [Term] id: DOID:0112322 name: pontocerebellar hypoplasia type 1 def: "A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia." [url:https\://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/, url:https\://pubmed.ncbi.nlm.nih.gov/21749694/, url:https\://pubmed.ncbi.nlm.nih.gov/29656927/] subset: DO_rare_slim synonym: "Norman disease" EXACT [] synonym: "PCH1" EXACT OMO:0003012 [] synonym: "pontocerebellar hypoplasia with anterior horn cell disease" EXACT [] synonym: "pontocerebellar hypoplasia with infantile spinal muscular atrophy" EXACT [] xref: GARD:10704 xref: MESH:C548069 xref: ORDO:2254 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0112323 name: pontocerebellar hypoplasia type 1D def: "A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27." [url:https\://pubmed.ncbi.nlm.nih.gov/29727687/, url:https\://pubmed.ncbi.nlm.nih.gov/30690203/] synonym: "PCH1D" EXACT OMO:0003012 [] xref: MIM:618065 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 [Term] id: DOID:0112324 name: pontocerebellar hypoplasia type 11 def: "A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2." [url:https\://pubmed.ncbi.nlm.nih.gov/28823706/] subset: DO_rare_slim synonym: "PCH11" EXACT OMO:0003012 [] xref: MIM:617695 xref: ORDO:611247 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0112325 name: pontocerebellar hypoplasia type 14 def: "A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/33220177/] synonym: "PCH14" EXACT OMO:0003012 [] xref: MIM:619301 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0112326 name: pontocerebellar hypoplasia type 15 def: "A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21." [url:https\://pubmed.ncbi.nlm.nih.gov/33220177/] synonym: "PCH15" EXACT OMO:0003012 [] xref: MIM:619302 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0112327 name: pontocerebellar hypoplasia type 12 def: "A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/30089828/] subset: DO_rare_slim synonym: "COASY-related pontocerebellar hypoplasia" EXACT [] synonym: "PCH12" EXACT OMO:0003012 [] xref: MIM:618266 xref: ORDO:611256 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0112328 name: pontocerebellar hypoplasia type 2 def: "A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy." [url:https\://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/] subset: DO_rare_slim synonym: "PCH2" EXACT OMO:0003012 [] xref: GARD:10705 xref: MESH:C548070 xref: ORDO:2524 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0112329 name: pontocerebellar hypoplasia type 2F def: "A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/27392077/] synonym: "PCH2F" EXACT OMO:0003012 [] xref: MIM:617026 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 [Term] id: DOID:0112330 name: pontocerebellar hypoplasia type 1E def: "A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/26168012/, url:https\://pubmed.ncbi.nlm.nih.gov/28653766/] synonym: "PCH1E" EXACT OMO:0003012 [] xref: MIM:619303 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 [Term] id: DOID:0112331 name: pontocerebellar hypoplasia type 1F def: "A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1." [url:https\://pubmed.ncbi.nlm.nih.gov/33463720/] synonym: "PCH1F" EXACT OMO:0003012 [] xref: MIM:619304 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 [Term] id: DOID:0112332 name: pontocerebellar hypoplasia type 13 def: "A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/31207318/] synonym: "PCH13" EXACT OMO:0003012 [] xref: MIM:618606 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0112333 name: pontocerebellar hypoplasia type 16 def: "A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2." [url:https\://pubmed.ncbi.nlm.nih.gov/33168985/, url:https\://pubmed.ncbi.nlm.nih.gov/33257696/] synonym: "PCH16" EXACT OMO:0003012 [] xref: MIM:619527 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0112334 name: pontocerebellar hypoplasia type 1C def: "A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/24989451/] synonym: "PCH1C" EXACT OMO:0003012 [] xref: MIM:616081 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 [Term] id: DOID:0112335 name: spermatogenic failure 54 def: "A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35." [url:https\://pubmed.ncbi.nlm.nih.gov/32503832/] synonym: "SPGF54" EXACT OMO:0003012 [] xref: MIM:619379 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112336 name: spermatogenic failure 56 def: "A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH10 gene on chromosome 12q24.31." [url:https\://pubmed.ncbi.nlm.nih.gov/34237282/] synonym: "SPGF56" EXACT OMO:0003012 [] xref: MIM:619515 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112337 name: spermatogenic failure 55 def: "A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the SPAG17 gene on chromosome 1p12." [url:https\://pubmed.ncbi.nlm.nih.gov/28548327/] synonym: "SPGF55" EXACT OMO:0003012 [] xref: MIM:619380 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112338 name: spermatogenic failure 57 def: "A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/34347949/] synonym: "SPGF57" EXACT OMO:0003012 [] xref: MIM:619528 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112339 name: Tatton-Brown-Rahman syndrome def: "A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/24614070/, url:https\://pubmed.ncbi.nlm.nih.gov/34315901/] subset: DO_rare_slim synonym: "DNMT3A overgrowth syndrome" EXACT [] synonym: "DOS" EXACT OMO:0003012 [] synonym: "Tatton-Brown-Rahman overgrowth syndrome" EXACT [] synonym: "TBRS" EXACT OMO:0003012 [] xref: MIM:615879 xref: ORDO:404443 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050888 ! syndromic intellectual disability [Term] id: DOID:0112340 name: craniotubular dysplasia Ikegawa type def: "A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM53 gene on chromosome 1p34.1." [url:https\://pubmed.ncbi.nlm.nih.gov/33824347/] synonym: "CTDI" EXACT OMO:0003012 [] xref: MIM:619727 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080032 ! craniodiaphyseal dysplasia [Term] id: DOID:0112341 name: hereditary spastic paraplegia 80 def: "A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/30929741/] synonym: "spastic paraplegia 80 autosomal dominant" EXACT [] synonym: "SPG80" EXACT OMO:0003012 [] xref: MIM:618418 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0112342 name: hereditary spastic paraplegia 86 def: "A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33." [url:https\://pubmed.ncbi.nlm.nih.gov/34489854/, url:https\://pubmed.ncbi.nlm.nih.gov/34866177/] synonym: "spastic paraplegia 86 autosomal recessive" EXACT [] synonym: "SPG86" EXACT OMO:0003012 [] xref: MIM:619735 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0112343 name: hereditary spastic paraplegia 82 def: "A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/31637422/] synonym: "spastic paraplegia 82 autosomal recessive" EXACT [] synonym: "SPG82" EXACT OMO:0003012 [] xref: MIM:618770 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0112344 name: hereditary spastic paraplegia 79B def: "A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13." [url:https\://pubmed.ncbi.nlm.nih.gov/28007905/] subset: DO_rare_slim synonym: "autosomal recessive spastic paraplegia 79B" EXACT [] synonym: "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome" EXACT [] synonym: "spastic paraplegia 79 autosomal recessive" EXACT [] synonym: "SPG79B" EXACT OMO:0003012 [] xref: MIM:615491 xref: ORDO:352654 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0112345 name: hereditary spastic paraplegia 85 def: "A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/31636353/] synonym: "spastic paraplegia 85 autosomal recessive" EXACT [] synonym: "SPG85" EXACT OMO:0003012 [] xref: MIM:619686 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0112346 name: hereditary spastic paraplegia 83 def: "A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1." [url:https\://pubmed.ncbi.nlm.nih.gov/32707086/] synonym: "spastic paraplegia 83 autosomal recessive" EXACT [] synonym: "SPG83" EXACT OMO:0003012 [] xref: MIM:619027 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0112347 name: hereditary spastic paraplegia 84 def: "A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/34415322/] synonym: "spastic paraplegia 84 autosomal recessive" EXACT [] synonym: "SPG84" EXACT OMO:0003012 [] xref: MIM:619621 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0112348 name: hereditary spastic paraplegia 78 def: "A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13." [url:https\://pubmed.ncbi.nlm.nih.gov/28137957/] subset: DO_rare_slim synonym: "spastic paraplegia 78 autosomal recessive" EXACT [] synonym: "SPG78" EXACT OMO:0003012 [] xref: MIM:617225 xref: ORDO:513436 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0112349 name: hereditary spastic paraplegia 81 def: "A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/28052917/, url:https\://pubmed.ncbi.nlm.nih.gov/29500230/] subset: DO_rare_slim synonym: "autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction" EXACT [] synonym: "autosomal recessive complex SPG due to Kennedy pathway dysfunction" EXACT [] synonym: "spastic paraplegia 81 autosomal recessive" EXACT [] synonym: "SPG81" EXACT OMO:0003012 [] xref: MIM:618768 xref: ORDO:506353 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0112350 name: spermatogenic failure 61 def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the STAG3 gene on chromosome 7q22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/31125047/, url:https\://pubmed.ncbi.nlm.nih.gov/31682730/] synonym: "SPGF61" EXACT OMO:0003012 [] xref: MIM:619672 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112351 name: spermatogenic failure 62 def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the RNF212 gene on chromosome 4p16.3." [url:https\://pubmed.ncbi.nlm.nih.gov/31125047/] synonym: "SPGF62" EXACT OMO:0003012 [] xref: MIM:619673 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112352 name: spermatogenic failure 58 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the IFT74 gene on chromosome 9p21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/33689014/] synonym: "SPGF58" EXACT OMO:0003012 [] xref: MIM:619585 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112353 name: spermatogenic failure 64 def: "A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FBXO43 gene on chromosome 8q22.2." [url:https\://pubmed.ncbi.nlm.nih.gov/30878252/, url:https\://pubmed.ncbi.nlm.nih.gov/34595750/] synonym: "SPGF64" EXACT OMO:0003012 [] xref: MIM:619696 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112354 name: spermatogenic failure 65 def: "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DHND1 gene on chromosome 11p15.4." [url:https\://pubmed.ncbi.nlm.nih.gov/34932939/] synonym: "SPGF65" EXACT OMO:0003012 [] xref: MIM:619712 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112355 name: spermatogenic failure 60 def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB1 gene on chromosome 16q22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/32741963/] synonym: "SPGF60" EXACT OMO:0003012 [] xref: MIM:619646 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112356 name: spermatogenic failure 63 def: "A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the RPL10L gene on chromosome 14q21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/32111475/] synonym: "SPGF63" EXACT OMO:0003012 [] xref: MIM:619689 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112357 name: spermatogenic failure 59 def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB2 gene on chromosome 15q21.1." [url:https\://pubmed.ncbi.nlm.nih.gov/33211200/] synonym: "SPGF59" EXACT OMO:0003012 [] xref: MIM:619645 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0112358 name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 def: "A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31." [url:https\://pubmed.ncbi.nlm.nih.gov/33308444/] synonym: "SSFSC2" EXACT OMO:0003012 [] xref: MIM:619184 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112359 name: congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay def: "A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/28566479/, url:https\://pubmed.ncbi.nlm.nih.gov/29036646/] synonym: "CAKUTHED" EXACT OMO:0003012 [] xref: MIM:617641 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0112360 name: spondylocostal dysostosis 6 def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2." [url:https\://pubmed.ncbi.nlm.nih.gov/25343988/] synonym: "autosomal recessive spondylocostal dysostosis 6" EXACT [] synonym: "SCDO6" EXACT OMO:0003012 [] xref: MIM:616566 is_a: DOID:0050568 ! spondylocostal dysostosis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0112361 name: spondylocostal dysostosis 3 def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3." [url:https\://pubmed.ncbi.nlm.nih.gov/16385447/] synonym: "autosomal recessive spondylocostal dysostosis 3" EXACT [] synonym: "SCDO3" EXACT OMO:0003012 [] xref: MIM:609813 is_a: DOID:0050568 ! spondylocostal dysostosis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0112362 name: spondylocostal dysostosis 2 def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1." [url:https\://pubmed.ncbi.nlm.nih.gov/15122512/] subset: DO_rare_slim synonym: "autosomal recessive spondylocostal dysostosis 2" EXACT [] synonym: "SCDO2" EXACT OMO:0003012 [] xref: GARD:6798 xref: MIM:608681 is_a: DOID:0050568 ! spondylocostal dysostosis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0112363 name: spondylocostal dysostosis 5 def: "A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/23335591/, url:https\://pubmed.ncbi.nlm.nih.gov/25564734/] synonym: "SCDO5" EXACT OMO:0003012 [] xref: MIM:122600 is_a: DOID:0050568 ! spondylocostal dysostosis is_a: DOID:0050739 ! autosomal genetic disease [Term] id: DOID:0112364 name: spondylocostal dysostosis 4 def: "A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/18775957/] synonym: "autosomal recessive spondylocostal dysostosis 4" EXACT [] synonym: "SCDO4" EXACT OMO:0003012 [] xref: MIM:613686 is_a: DOID:0050568 ! spondylocostal dysostosis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0112365 name: spondylocostal dysostosis 1 def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/10742114/] synonym: "autosomal recessive spondylocostal dysostosis 1" EXACT [] synonym: "SCDO1" EXACT OMO:0003012 [] xref: MIM:277300 is_a: DOID:0050568 ! spondylocostal dysostosis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0112367 name: Coffin-Siris syndrome 8 def: "A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13." [url:https\://pubmed.ncbi.nlm.nih.gov/30580808/] synonym: "CSS8" EXACT OMO:0003012 [] xref: MIM:618362 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0112368 name: Coffin-Siris syndrome 5 def: "A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/22426308/, url:https\://pubmed.ncbi.nlm.nih.gov/23906836/] synonym: "CSS5" EXACT OMO:0003012 [] xref: MIM:616938 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0112369 name: Coffin-Siris syndrome 7 def: "A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1." [url:https\://pubmed.ncbi.nlm.nih.gov/29429572/] synonym: "CSS7" EXACT OMO:0003012 [] xref: MIM:618027 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0112370 name: Coffin-Siris syndrome 12 def: "A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33." [url:https\://pubmed.ncbi.nlm.nih.gov/33232675/] synonym: "CSS12" EXACT OMO:0003012 [] xref: MIM:619325 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0112371 name: Coffin-Siris syndrome 10 def: "A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3." [url:https\://pubmed.ncbi.nlm.nih.gov/30661772/] synonym: "CSS10" EXACT OMO:0003012 [] xref: MIM:618506 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0112372 name: Coffin-Siris syndrome 11 def: "A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12." [url:https\://pubmed.ncbi.nlm.nih.gov/30879640/] synonym: "CSS11" EXACT OMO:0003012 [] xref: MIM:618779 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0112373 name: autosomal dominant auditory neuropathy 3 def: "An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1." [url:https\://pubmed.ncbi.nlm.nih.gov/34050020/] synonym: "AUNA3" EXACT OMO:0003012 [] xref: MIM:619832 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0112374 name: muscular dystrophy-dystroglycanopathy def: "A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan." [url:https\://pubmed.ncbi.nlm.nih.gov/19299310/] subset: DO_rare_slim synonym: "MDDG" EXACT OMO:0003012 [] xref: ICD10CM:G71.2 xref: ORDO:370953 is_a: DOID:0050557 ! congenital muscular dystrophy [Term] id: DOID:0112375 name: muscular dystrophy-dystroglycanopathy type B def: "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies." [url:https\://pubmed.ncbi.nlm.nih.gov/15792865/, url:https\://pubmed.ncbi.nlm.nih.gov/17878207/] synonym: "MDDGB" EXACT OMO:0003012 [] xref: MIM:PS613155 is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy [Term] id: DOID:0112376 name: muscular dystrophy-dystroglycanopathy type B15 def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22." [url:https\://pubmed.ncbi.nlm.nih.gov/31469168/] synonym: "congenital muscular dystrophy DPM3-related" EXACT [] synonym: "MDDGB15" EXACT OMO:0003012 [] xref: MIM:618992 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B [Term] id: DOID:0112377 name: muscular dystrophy-dystroglycanopathy type B14 def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31." [url:https\://pubmed.ncbi.nlm.nih.gov/23768512/] synonym: "congenital muscular dystrophy GMPPB-related" EXACT [] synonym: "MDDGB14" EXACT OMO:0003012 [] xref: MIM:615351 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B [Term] id: DOID:0112378 name: muscular dystrophy-dystroglycanopathy type B3 def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1." [url:https\://pubmed.ncbi.nlm.nih.gov/19067344/, url:https\://pubmed.ncbi.nlm.nih.gov/19299310/] synonym: "congenital muscular dystrophy POMGNT1-related" EXACT [] synonym: "MDDGB3" EXACT OMO:0003012 [] xref: MIM:613151 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B [Term] id: DOID:0112379 name: muscular dystrophy-dystroglycanopathy type B4 def: "A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2." [url:https\://pubmed.ncbi.nlm.nih.gov/17878207/] synonym: "congenital muscular dystrophy FKTN-related" EXACT [] synonym: "MDDGB4" EXACT OMO:0003012 [] xref: MIM:613152 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B [Term] id: DOID:0112380 name: muscular dystrophy-dystroglycanopathy type B2 def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." [url:https\://pubmed.ncbi.nlm.nih.gov/17634419/] synonym: "congenital muscular dystrophy POMT2-related" EXACT [] synonym: "MDDGB2" EXACT OMO:0003012 [] xref: MIM:613156 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B [Term] id: DOID:0112381 name: muscular dystrophy-dystroglycanopathy type C12 def: "A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/24925318/] subset: DO_rare_slim synonym: "LGMD due to POMK deficiency" EXACT [] synonym: "Limb-girdle muscular dystrophy due to POMK deficiency" EXACT [] synonym: "MDDGC12" EXACT OMO:0003012 [] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" EXACT [] xref: MIM:616094 xref: ORDO:445110 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy [Term] id: DOID:0112382 name: muscular dystrophy-dystroglycanopathy type C8 def: "A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/27066570/] synonym: "autosomal recessive limb-girdle muscular dystrophy 24" EXACT [] synonym: "LGMDR24" EXACT OMO:0003012 [] synonym: "MDDGC2" EXACT OMO:0003012 [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related" EXACT [] xref: MIM:618135 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy [Term] id: DOID:0112383 name: KINSSHIP syndrome def: "A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/18616733/, url:https\://pubmed.ncbi.nlm.nih.gov/33961779/] synonym: "AFF3-related mesomelic dysplasia" EXACT [] synonym: "KINS" EXACT OMO:0003012 [] synonym: "Steichen-Gersdorf type mesomelic dysplasia" EXACT [] xref: MIM:619297 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:070355 name: multisystem proteinopathy def: "A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system." [url:https\://n.neurology.org/content/85/8/658] is_a: DOID:231 ! motor neuron disease [Term] id: DOID:100 name: intestinal infectious disease alt_id: DOID:10960 alt_id: DOID:12509 alt_id: DOID:5270 def: "An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites." [url:http\://en.wikipedia.org/wiki/Intestine] comment: Updating outdated UMLS CUI. synonym: "bacterial enteritis" EXACT [] xref: ICD10CM:A00-A09 xref: ICD9CM:001-009.99 xref: SNOMEDCT_US_2023_03_01:187266003 xref: UMLS_CUI:C0178238 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:10000 name: obsolete visual cortex disorder due to neoplasm is_obsolete: true [Term] id: DOID:10003 name: sensorineural hearing loss alt_id: DOID:11053 alt_id: DOID:12112 alt_id: DOID:12114 def: "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem." [url:https\://medlineplus.gov/ency/article/003291.htm] subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "central hearing loss" EXACT [] synonym: "High frequency deafness" EXACT [] synonym: "High Frequency Hearing Loss" EXACT [] synonym: "high-frequency hearing loss" EXACT [] synonym: "Perceptive deafness" EXACT [] synonym: "Perceptive hearing loss" EXACT [] synonym: "Perceptive hearing loss or deafness" EXACT [] synonym: "Sensorineural Deafness" EXACT [] synonym: "Sensory hearing loss" EXACT [] xref: ICD10CM:H90.5 xref: ICD9CM:389.1 xref: MESH:D006319 xref: NCI:C26739 xref: SNOMEDCT_US_2023_03_01:60700002 xref: UMLS_CUI:C0018784 is_a: DOID:2952 ! inner ear disease property_value: exactMatch "MESH:D006319" xsd:string [Term] id: DOID:10007 name: obsolete respiratory syncytial virus bronchiolitis alt_id: DOID:10006 alt_id: DOID:2941 def: "A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production." [url:http\://en.wikipedia.org/wiki/Bronchiolitis, url:http\://www.pubmedcentral.nih.gov/picrender.fcgi?artid=2621418&blobtype=pdf] synonym: "acute bronchiolitis due to RSV" EXACT [] synonym: "capillary pneumonia" EXACT [] synonym: "viral bronchiolitis" EXACT [] is_obsolete: true [Term] id: DOID:1001 name: obsolete labor complications synonym: "Labour complications" EXACT [] is_obsolete: true [Term] id: DOID:10011 name: thyroid lymphoma def: "A thyroid gland cancer that has_material_basis_in lymphocytes." [url:https\://www.ncbi.nlm.nih.gov/books/NBK544282/] subset: NCIthesaurus xref: NCI:C5265 xref: SNOMEDCT_US_2023_03_01:278051002 xref: UMLS_CUI:C1336753 is_a: DOID:0060058 ! lymphoma is_a: DOID:1781 ! thyroid cancer [Term] id: DOID:10012 name: obsolete metastatic malignant neoplasm to the thyroid synonym: "metastatic tumor to the Thyroid" EXACT [] synonym: "secondary malignant neoplasm of thyroid gland" EXACT [] is_obsolete: true [Term] id: DOID:10013 name: obsolete polyglandular activity in multiple endocrine adenomatosis is_obsolete: true [Term] id: DOID:10015 name: obsolete polyglandular dysfunction is_obsolete: true [Term] id: DOID:10016 name: multiple endocrine neoplasia type 2B def: "A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities." [url:http\://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b, url:http\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, url:http\://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/15965261, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "MEN type IIB" EXACT [] synonym: "MEN2B" EXACT OMO:0003012 [] synonym: "mucosal neuroma syndrome" EXACT [] synonym: "Multiple endocrine neoplasia, type 3" EXACT [] synonym: "Wagenmann-Froboese syndrome" EXACT [] xref: ICD10CM:E31.23 xref: ICD9CM:258.03 xref: MESH:D018814 xref: MIM:162300 xref: NCI:C3227 xref: ORDO:247709 xref: SNOMEDCT_US_2023_03_01:61530001 xref: UMLS_CUI:C0025269 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3125 ! multiple endocrine neoplasia [Term] id: DOID:10017 name: multiple endocrine neoplasia type 1 def: "A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas." [url:http\://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1, url:http\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000398.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/25509899] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "MEN type I" EXACT [] synonym: "Wermer syndrome" EXACT [] synonym: "Wermer's syndrome" EXACT [] xref: GARD:3829 xref: ICD10CM:E31.21 xref: ICD9CM:258.01 xref: MESH:D018761 xref: MIM:131100 xref: NCI:C3225 xref: ORDO:652 xref: SNOMEDCT_US_2023_03_01:30664006 xref: UMLS_CUI:C0025267 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3125 ! multiple endocrine neoplasia [Term] id: DOID:10018 name: obsolete papilledema associated with increased intracranial pressure is_obsolete: true [Term] id: DOID:1002 name: endometritis def: "An endometrial disease that is characterized by inflammation of the endometrium." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7511354] subset: NCIthesaurus xref: MESH:D004716 xref: NCI:C26764 xref: SNOMEDCT_US_2023_03_01:155975003 xref: UMLS_CUI:C0014179 is_a: DOID:1005 ! endometrial disease [Term] id: DOID:10020 name: ampulla of Vater cancer def: "A duodenum cancer that is located_in the ampulla of Vater." [url:https\://pubmed.ncbi.nlm.nih.gov/25485917/] subset: NCIthesaurus synonym: "malignant tumour of ampulla of vater" EXACT [] xref: ICD10CM:C24.1 xref: ICD9CM:156.2 xref: NCI:C3536 xref: SNOMEDCT_US_2023_03_01:93668007 xref: UMLS_CUI:C0153454 is_a: DOID:10021 ! duodenum cancer is_a: DOID:4606 ! bile duct cancer [Term] id: DOID:10021 name: duodenum cancer alt_id: DOID:6072 def: "A small intestine cancer that is located_in the beginning section of the small intestine." [url:http\://en.wikipedia.org/wiki/Duodenal_cancer] subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "cancer of duodenum" EXACT [] synonym: "Duodenal cancer" EXACT [] synonym: "duodenal neoplasm" EXACT [] xref: ICD10CM:C17.0 xref: ICD9CM:152.0 xref: MESH:D004379 xref: NCI:C4803 xref: NCI:C9328 xref: SNOMEDCT_US_2023_03_01:254570009 xref: SNOMEDCT_US_2023_03_01:363403002 xref: UMLS_CUI:C0153426 xref: UMLS_CUI:C0541912 is_a: DOID:10154 ! small intestine cancer is_a: DOID:4072 ! duodenum disease [Term] id: DOID:10022 name: ampulla of Vater benign neoplasm def: "A duodenal benign neoplasm that is located_in the ampulla of Vater." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620475/] subset: NCIthesaurus synonym: "tumor of the ampulla of Vater" EXACT [] xref: NCI:C4443 xref: SNOMEDCT_US_2023_03_01:126858004 xref: UMLS_CUI:C0345916 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:1737 ! duodenal benign neoplasm is_a: DOID:4138 ! bile duct disease [Term] id: DOID:10024 name: migraine with aura alt_id: DOID:10025 def: "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon." [url:http\://en.wikipedia.org/wiki/Migraine, url:http\://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404] comment: Xref MGI. subset: NCIthesaurus synonym: "classic migraine" EXACT [] xref: ICD10CM:G43.1 xref: ICD9CM:346.0 xref: MESH:D020325 xref: MIM:609179 xref: MIM:609670 xref: NCI:C117005 xref: SNOMEDCT_US_2023_03_01:155047002 xref: UMLS_CUI:C0154723 is_a: DOID:6364 ! migraine [Term] id: DOID:10027 name: tabes dorsalis def: "A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh, url:http\://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: sexually_transmitted_infectious_disease synonym: "Posterior spinal sclerosis" EXACT [] synonym: "Tabes dorsalis - neurosyphilis" EXACT [] xref: GARD:8730 xref: ICD10CM:A52.11 xref: ICD9CM:094.0 xref: MESH:D013606 xref: NCI:C35057 xref: SNOMEDCT_US_2023_03_01:266134000 xref: UMLS_CUI:C0039223 is_a: DOID:9988 ! tertiary neurosyphilis [Term] id: DOID:1003 name: pelvic inflammatory disease def: "A female reproductive system disease that is characterized by an infection of the female reproductive organs." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25992748] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "PID" EXACT OMO:0003012 [] xref: ICD10CM:N73.9 xref: ICD9CM:614.9 xref: MESH:D000292 xref: NCI:C3889 xref: SNOMEDCT_US_2023_03_01:266648001 xref: UMLS_CUI:C0242172 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:10030 name: pulmonary interstitial emphysema def: "A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation." [url:https\://radiopaedia.org/articles/pulmonary-interstitial-emphysema?lang=us, url:https\://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/p/pulmonary-interstitial-emphysema.html] subset: NCIthesaurus xref: ICD10CM:J98.2 xref: ICD9CM:518.1 xref: NCI:C34571 xref: SNOMEDCT_US_2023_03_01:11211003 xref: UMLS_CUI:C1370824 is_a: DOID:9675 ! pulmonary emphysema [Term] id: DOID:10031 name: compensatory emphysema def: "A pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung." [url:https\://en.wikipedia.org/wiki/Pneumatosis, url:https\://www.google.com/books/edition/Airway_Stenting_in_Interventional_Radiol/oQ92DwAAQBAJ?hl=en&gbpv=1&dq=Compensatory+emphysema&pg=PA27] xref: ICD10CM:J98.3 xref: ICD9CM:518.2 xref: SNOMEDCT_US_2023_03_01:33325001 xref: UMLS_CUI:C0155918 is_a: DOID:9675 ! pulmonary emphysema [Term] id: DOID:10032 name: hyperlucent lung def: "A lung disease that is characterized by increased lucency compared to the other lung on a chest radiograph or CT." [url:https\://journal.chestnet.org/article/S0012-3692(19)31381-9/fulltext, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4587024/] xref: MESH:D019568 xref: UMLS_CUI:C0524799 is_a: DOID:850 ! lung disease [Term] id: DOID:10033 name: cycloplegia def: "An eye accommodation disease that is characterized by paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." [url:https\://en.wikipedia.org/wiki/Cycloplegia] synonym: "Ciliary muscle paresis" EXACT [] synonym: "Cycloplegic paralysis of accommodation" EXACT [] synonym: "Paresis of accommodation" EXACT [] xref: ICD10CM:H52.52 xref: ICD9CM:367.51 xref: SNOMEDCT_US_2023_03_01:68158006 xref: UMLS_CUI:C0235238 is_a: DOID:10034 ! eye accommodation disease [Term] id: DOID:10034 name: eye accommodation disease def: "An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20582770] xref: ICD10CM:H52.5 xref: ICD9CM:367.5 xref: SNOMEDCT_US_2023_03_01:155137002 xref: UMLS_CUI:C0152198 is_a: DOID:5614 ! eye disease [Term] id: DOID:10035 name: asymptomatic neurosyphilis def: "A tertiary neurosyphilis that results_in mild meningitis." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease xref: ICD10CM:A52.2 xref: ICD9CM:094.3 xref: MESH:D009494 xref: SNOMEDCT_US_2023_03_01:37754005 xref: UMLS_CUI:C0153167 is_a: DOID:9988 ! tertiary neurosyphilis [Term] id: DOID:10038 name: obsolete old burn scar-related melanoma of skin is_obsolete: true [Term] id: DOID:10039 name: late congenital syphilis alt_id: DOID:10796 def: "A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities." [url:http\://en.wikipedia.org/wiki/Late_congenital_syphilis, url:http\://www.merckmanuals.com/professional/sec19/ch279/ch279d.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease synonym: "juvenile neurosyphilis" EXACT [] xref: ICD10CM:A50.40 xref: ICD10CM:A50.5 xref: ICD9CM:090.4 xref: ICD9CM:090.5 xref: MESH:D009494 xref: SNOMEDCT_US_2023_03_01:187350002 xref: SNOMEDCT_US_2023_03_01:4243004 xref: UMLS_CUI:C0153132 xref: UMLS_CUI:C0153136 is_a: DOID:9856 ! congenital syphilis [Term] id: DOID:10040 name: malignant eyelid melanoma def: "A skin melanoma that arises from the upper or lower eyelid." [url:https\://eyewiki.aao.org/Malignant_Melanoma_of_the_Eyelid] subset: NCIthesaurus xref: NCI:C4358 xref: SNOMEDCT_US_2023_03_01:231834005 xref: UMLS_CUI:C0339116 is_a: DOID:8923 ! skin melanoma [Term] id: DOID:10041 name: dysplastic nevus syndrome def: "A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/familial-atypical-multiple-mole-melanoma-syndrome] subset: DO_rare_slim synonym: "familial atypical multiple mole-melanoma" EXACT [] synonym: "FAMM syndrome" EXACT [] xref: GARD:9281 xref: MESH:D004416 xref: UMLS_CUI:C0205747 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:D004416" xsd:string [Term] id: DOID:10042 name: obsolete regressing skin melanoma synonym: "regressing malignant melanoma of the skin" EXACT [] is_obsolete: true [Term] id: DOID:10044 name: balloon cell malignant melanoma def: "A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm." [url:https\://pubmed.ncbi.nlm.nih.gov/27984232/] subset: NCIthesaurus xref: NCI:C4227 xref: SNOMEDCT_US_2023_03_01:403922007 xref: UMLS_CUI:C0334426 is_a: DOID:8923 ! skin melanoma [Term] id: DOID:10045 name: obsolete malignant giant pigmented nevus melanoma synonym: "malignant melanoma in congenital melanocytic naevus" EXACT [] synonym: "skin melanoma in Giant Pigmented nevus" EXACT [] is_obsolete: true [Term] id: DOID:10047 name: nodular malignant melanoma def: "A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule." [url:http\://en.wikipedia.org/wiki/Nodular_melanoma, url:http\://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "nodular melanoma" EXACT [] xref: GARD:9961 xref: NCI:C4225 xref: SNOMEDCT_US_2023_03_01:2142002 xref: UMLS_CUI:C0334424 is_a: DOID:8923 ! skin melanoma [Term] id: DOID:10048 name: obsolete malignant junctional nevus melanoma synonym: "malignant melanoma in junctional nevus (morphologic abnormality)" EXACT [] synonym: "melanoma in Junctional nevus" EXACT [] is_obsolete: true [Term] id: DOID:10049 name: obsolete desmoplastic melanoma def: "A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck." [url:http\://www.cancer.gov/dictionary/?CdrID=321367] is_obsolete: true [Term] id: DOID:1005 name: endometrial disease def: "A uterine disease that is located_in the endometrium." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25100707] subset: NCIthesaurus xref: NCI:C3504 xref: SNOMEDCT_US_2023_03_01:418632009 xref: UMLS_CUI:C0151622 is_a: DOID:345 ! uterine disease [Term] id: DOID:10053 name: obsolete malignant skin blue nevus synonym: "Blue nevus-Like melanoma" EXACT [] is_obsolete: true [Term] id: DOID:10054 name: skin amelanotic melanoma def: "A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells." [url:https\://dermnetnz.org/topics/amelanotic-melanoma/] subset: NCIthesaurus synonym: "skin amelanotic malignant melanoma" EXACT [] xref: NCI:C4633 xref: SNOMEDCT_US_2023_03_01:276751004 xref: UMLS_CUI:C0349515 is_a: DOID:8923 ! skin melanoma [Term] id: DOID:10059 name: obsolete Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium is_obsolete: true [Term] id: DOID:10066 name: obsolete syphilitic acoustic neuritis def: "A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved." [url:http\://archotol.ama-assn.org/cgi/content/summary/40/4/261] subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease is_obsolete: true [Term] id: DOID:10069 name: subglottis benign neoplasm def: "A laryngeal benign neoplasm that is located_in the subglottic area of the larynx." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4427] subset: NCIthesaurus synonym: "Subglottic tumor" EXACT [] xref: NCI:C4426 xref: SNOMEDCT_US_2023_03_01:126696001 xref: UMLS_CUI:C0345746 is_a: DOID:2598 ! laryngeal benign neoplasm [Term] id: DOID:10070 name: larynx leiomyoma def: "A laryngeal benign neoplasm that derives_from smooth muscle cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20737370] subset: NCIthesaurus xref: NCI:C6027 xref: UMLS_CUI:C1334370 is_a: DOID:127 ! leiomyoma is_a: DOID:2598 ! laryngeal benign neoplasm [Term] id: DOID:10071 name: larynx squamous papilloma def: "A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness." [url:https\://www.ncbi.nlm.nih.gov/books/NBK562327/] subset: NCIthesaurus synonym: "Laryngeal Squamous Cell Papilloma" EXACT [] xref: NCI:C7742 xref: SNOMEDCT_US_2023_03_01:269637007 xref: UMLS_CUI:C0240164 is_a: DOID:2598 ! laryngeal benign neoplasm [Term] id: DOID:10073 name: syphilitic meningitis def: "A bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord." [url:https\://medlineplus.gov/ency/article/000724.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease xref: GARD:8731 xref: ICD9CM:094.2 xref: MESH:C536775 xref: SNOMEDCT_US_2023_03_01:14968007 xref: UMLS_CUI:C0153166 is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:10074 name: hymenolepiasis def: "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness." [url:http\://en.wikipedia.org/wiki/Hymenolepiasis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001378.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "dwarf tapeworm infection" EXACT [] synonym: "Hymenolepis infectious disease" EXACT [] xref: GARD:2787 xref: ICD10CM:B71.0 xref: ICD9CM:123.6 xref: MESH:D006925 xref: NCI:C84768 xref: SNOMEDCT_US_2023_03_01:187153007 xref: UMLS_CUI:C0020413 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:10075 name: diphyllobothriasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia." [url:http\://en.wikipedia.org/wiki/Diphyllobothrium, url:http\://www.dpd.cdc.gov/dpdx/HTML/Diphyllobothriasis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Diphyllobothrium infection" EXACT [] synonym: "fish tapeworm" EXACT [] xref: GARD:942 xref: ICD10CM:B70.0 xref: ICD9CM:123.4 xref: MESH:D004169 xref: NCI:C128391 xref: SNOMEDCT_US_2023_03_01:187151009 xref: UMLS_CUI:C0012561 is_a: DOID:883 ! parasitic helminthiasis infectious disease property_value: exactMatch "MESH:D004169" xsd:string [Term] id: DOID:10079 name: cysticercosis alt_id: DOID:10078 alt_id: DOID:14424 def: "A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions." [url:http\://en.wikipedia.org/wiki/Cysticercosis] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "intestinal taenia solium infection" EXACT [] synonym: "neurocysticercosis" EXACT [] synonym: "Pork tapeworm infection" EXACT [] synonym: "Tapeworm infection intestinal taenia solum" EXACT [] synonym: "Tapeworm infection pork" EXACT [] synonym: "tenia solium infectious disease" EXACT [] xref: GARD:8194 xref: ICD10CM:B69 xref: ICD9CM:123.1 xref: MESH:D003551 xref: NCI:C34520 xref: SNOMEDCT_US_2023_03_01:59051007 xref: UMLS_CUI:C0010678 is_a: DOID:0050596 ! taeniasis is_a: DOID:0080000 ! muscular disease is_a: DOID:114 ! heart disease is_a: DOID:331 ! central nervous system disease is_a: DOID:37 ! skin disease is_a: DOID:5614 ! eye disease [Term] id: DOID:10080 name: sparganosis def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected." [url:http\://en.wikipedia.org/wiki/Sparganosis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Sparganosis.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Infection by Sparganum" EXACT [] xref: ICD10CM:B70.1 xref: ICD9CM:123.5 xref: MESH:D013031 xref: NCI:C35030 xref: SNOMEDCT_US_2023_03_01:187152002 xref: UMLS_CUI:C0037753 is_a: DOID:18 ! urinary system disease is_a: DOID:2952 ! inner ear disease is_a: DOID:3463 ! breast disease is_a: DOID:850 ! lung disease is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:936 ! brain disease property_value: exactMatch "MESH:D013031" xsd:string [Term] id: DOID:10081 name: syphilitic encephalitis def: "An encephalitis that has_material_basis_in central neural system infection by Treponema pallidum." [url:https\://link.springer.com/article/10.1007/s10072-017-3109-0, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884904/] subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease xref: ICD9CM:094.81 xref: SNOMEDCT_US_2023_03_01:26135000 xref: UMLS_CUI:C0153168 is_a: DOID:9588 ! encephalitis [Term] id: DOID:10087 name: gastric leiomyoma def: "A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [url:https\://radiopaedia.org/articles/gastric-leiomyoma?lang=us] subset: NCIthesaurus synonym: "leiomyoma of the stomach" EXACT [] xref: NCI:C3876 xref: SNOMEDCT_US_2023_03_01:276812001 xref: UMLS_CUI:C0238440 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm [Term] id: DOID:10095 name: intracranial abscess def: "A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull." [url:https\://www.nlm.nih.gov/medlineplus/ency/article/001416.htm] subset: NCIthesaurus xref: ICD9CM:324.0 xref: NCI:C34734 xref: SNOMEDCT_US_2023_03_01:192738001 xref: UMLS_CUI:C0021874 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:10111 name: obsolete Congenital or acquired abnormality of vagina, with delivery is_obsolete: true [Term] id: DOID:10112 name: sleeping sickness def: "A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances." [url:http\://en.wikipedia.org/wiki/African_trypanosomiasis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001362.htm, url:http\://www.who.int/mediacentre/factsheets/fs259/en/] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "African sleeping sickness" EXACT [] synonym: "African trypanosomiasis" EXACT [] xref: GARD:7826 xref: ICD10CM:B56 xref: ICD9CM:086.5 xref: KEGG:05143 xref: MESH:D014353 xref: NCI:C84541 xref: ORDO:3385 xref: SNOMEDCT_US_2023_03_01:27031003 xref: UMLS_CUI:C0041228 is_a: DOID:10113 ! trypanosomiasis [Term] id: DOID:10113 name: trypanosomiasis def: "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans." [url:http\://en.wikipedia.org/wiki/Trypanosomiasis] subset: DO_infectious_disease_slim xref: ICD10CM:B57.2 xref: ICD9CM:086 xref: MEDDRA:10044707 xref: MESH:D014352 xref: SNOMEDCT_US_2023_03_01:78940002 xref: UMLS_CUI:C0041227 is_a: DOID:2789 ! parasitic protozoa infectious disease [Term] id: DOID:10114 name: obsolete Trypanosoma brucei rhodesiense infectious disease def: "A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems." [url:http\://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_ea_trypanosomiasis.htm] subset: zoonotic_infectious_disease synonym: "East African trypanosomiasis" EXACT [] synonym: "Rhodesian sleeping sickness" EXACT [] synonym: "Rhodesian trypanosomiasis" EXACT [] synonym: "trypanosoma rhodesiense infectious disease" EXACT [] is_obsolete: true [Term] id: DOID:10116 name: obsolete Trypanosoma brucei gambiense infectious disease def: "A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems." [url:http\://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_wa_trypanosomiasis.htm] subset: zoonotic_infectious_disease synonym: "Gambian sleeping sickness" EXACT [] synonym: "Gambian Trypanosomiasis" EXACT [] synonym: "West African trypanosomiasis" EXACT [] is_obsolete: true [Term] id: DOID:10120 name: obsolete eyelid degenerative disease comment: category only, removed[LS] xref: ICD9CM:374.50 xref: SNOMEDCT_US_2020_09_01:1112003 xref: UMLS_CUI:C0155209 is_obsolete: true [Term] id: DOID:10121 name: obsolete degenerative disorder of eyelid and periocular area is_obsolete: true [Term] id: DOID:10122 name: hyperpigmentation of eyelid def: "An eyelid disease that is characterized by dark eyelids." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756872/] comment: OMIM mapping confirmed by DO. [SN]. synonym: "dark eyelids" EXACT [] synonym: "dyspigmentation of eyelid" EXACT [] xref: ICD10CM:H02.71 xref: ICD9CM:374.52 xref: MESH:C562400 xref: MIM:145100 xref: SNOMEDCT_US_2023_03_01:41115008 xref: UMLS_CUI:C0155211 is_a: DOID:10123 ! pigmentation disease is_a: DOID:530 ! eyelid disease [Term] id: DOID:10123 name: pigmentation disease def: "A skin disease that is characterized by discoloration of the skin." [url:https\://medlineplus.gov/skinpigmentationdisorders.html] xref: ICD9CM:709.09 xref: UMLS_CUI:C0375489 is_a: DOID:37 ! skin disease [Term] id: DOID:10124 name: corneal disease alt_id: DOID:2284 def: "An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26731] subset: DO_RAD_slim subset: NCIthesaurus xref: ICD10CM:H18.9 xref: ICD9CM:371.9 xref: MESH:D003316 xref: NCI:C26731 xref: SNOMEDCT_US_2023_03_01:15250008 xref: UMLS_CUI:C0010034 is_a: DOID:5614 ! eye disease [Term] id: DOID:10125 name: acute hydrops keratoconus def: "A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane." [url:https\://en.wikipedia.org/wiki/Corneal_hydrops, url:https\://webeye.ophth.uiowa.edu/eyeforum/cases/241-acute-corneal-hydrops.htm] synonym: "Keratoconus, acute hydrops" EXACT [] xref: ICD9CM:371.62 xref: SNOMEDCT_US_2023_03_01:111523009 xref: UMLS_CUI:C0339286 is_a: DOID:10126 ! keratoconus [Term] id: DOID:10126 name: keratoconus def: "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape." [url:http\://en.wikipedia.org/wiki/Keratoconus, url:http\://ghr.nlm.nih.gov/glossary=keratoconus] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "conical cornea" EXACT [] xref: GARD:6824 xref: ICD10CM:H18.6 xref: ICD9CM:371.6 xref: MESH:D007640 xref: MIM:148300 xref: MIM:608586 xref: MIM:608932 xref: MIM:609271 xref: MIM:614622 xref: MIM:614623 xref: MIM:614628 xref: MIM:614629 xref: NCI:C26806 xref: ORDO:156071 xref: SNOMEDCT_US_2023_03_01:267733008 xref: UMLS_CUI:C0022578 is_a: DOID:10124 ! corneal disease [Term] id: DOID:10127 name: cerebral artery occlusion def: "A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries." [url:https\://pubmed.ncbi.nlm.nih.gov/8584085/] xref: ICD9CM:434 xref: SNOMEDCT_US_2023_03_01:20059004 xref: UMLS_CUI:C0028790 is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:10128 name: venous insufficiency def: "A vein disease that is characterized by impaired flow of blood through the veins." [url:http\://my.clevelandclinic.org/disorders/venous_insufficiency/hic_venous_insufficiency.aspx, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000203.htm] subset: NCIthesaurus synonym: "peripheral venous insufficiency" EXACT [] xref: ICD9CM:459.81 xref: MESH:D014689 xref: NCI:C127822 xref: SNOMEDCT_US_2023_03_01:20696009 xref: UMLS_CUI:C0042485 is_a: DOID:866 ! vein disease [Term] id: DOID:10131 name: psychologic vaginismus def: "A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause." [url:https\://my.clevelandclinic.org/health/diseases/15723-vaginismus, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35113] subset: NCIthesaurus synonym: "Functional vaginismus" EXACT [] synonym: "Non-organic vaginismus" EXACT [] synonym: "Psychogenic Vaginismus" EXACT [] xref: ICD10CM:F52.5 xref: ICD9CM:306.51 xref: NCI:C35113 xref: SNOMEDCT_US_2023_03_01:71787009 xref: UMLS_CUI:C0042266 is_a: DOID:10132 ! psychosexual disorder [Term] id: DOID:10132 name: psychosexual disorder def: "A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin." [url:https\://en.wikipedia.org/wiki/Psychosexual_disorder] xref: ICD9CM:302.79 xref: UMLS_CUI:C0033951 is_a: DOID:0060043 ! sexual health disorder [Term] id: DOID:10138 name: xerophthalmia def: "A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency." [url:https\://www.nature.com/articles/eye201417, url:https\://www.ncbi.nlm.nih.gov/books/NBK431094/] subset: NCIthesaurus synonym: "Conjunctival xerosis" EXACT [] xref: ICD10CM:E50.7 xref: ICD9CM:375.15 xref: MESH:D014985 xref: NCI:C34503 xref: SNOMEDCT_US_2023_03_01:193887002 xref: UMLS_CUI:C0043349 is_a: DOID:10140 ! dry eye syndrome [Term] id: DOID:10139 name: conjunctival degeneration xref: ICD10CM:H11.10 xref: ICD9CM:372.50 xref: SNOMEDCT_US_2023_03_01:40787005 xref: UMLS_CUI:C0155160 is_a: DOID:4251 ! conjunctival disease is_a: DOID:9799 ! eye degenerative disease [Term] id: DOID:10140 name: dry eye syndrome def: "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface." [url:https\://pubmed.ncbi.nlm.nih.gov/29498987/] subset: NCIthesaurus synonym: "dry eye disease" EXACT [] synonym: "Tear film insufficiency" EXACT [] xref: ICD10CM:H04.12 xref: MESH:D015352 xref: NCI:C34553 xref: SNOMEDCT_US_2023_03_01:193980001 xref: UMLS_CUI:C0013238 is_a: DOID:1400 ! lacrimal apparatus disease property_value: exactMatch "MESH:D015352" xsd:string [Term] id: DOID:10141 name: obsolete asthenopia comment: doid/symp duplicate - moved to Symptom Ontology is_obsolete: true [Term] id: DOID:10142 name: obsolete Chlamydia trachomatis peritonitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "venereal disease of peritoneum due to Chlamydia trachomatis" EXACT [] is_obsolete: true [Term] id: DOID:10144 name: obsolete secondary malignant neoplasm to the thymus synonym: "metastatic tumor to the Thymus" EXACT [] is_obsolete: true [Term] id: DOID:10145 name: obsolete metastases to mediastinum synonym: "metastatic tumor to the mediastinum" EXACT [] synonym: "secondary malignant neoplasm of mediastinum" EXACT [] is_obsolete: true [Term] id: DOID:10146 name: thymus lymphoma def: "A thymus cancer that arises from the thymus." [url:https\://pubmed.ncbi.nlm.nih.gov/12063471/] subset: NCIthesaurus xref: NCI:C6451 xref: UMLS_CUI:C1336745 is_a: DOID:0060058 ! lymphoma is_a: DOID:3277 ! thymus cancer [Term] id: DOID:10149 name: long bones of lower limb cancer def: "A bone cancer that is manifested in the long bones of the lower limb." [url:http\://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm] synonym: "malignant neoplasm of long bones of leg" EXACT [] xref: ICD10CM:C40.2 xref: ICD9CM:170.7 xref: SNOMEDCT_US_2023_03_01:187959005 xref: UMLS_CUI:C0153517 is_a: DOID:184 ! bone cancer [Term] id: DOID:10150 name: obsolete lower limb cancer def: "A malignant neoplasm that is manifested in the lower limb." [url:http\://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm] synonym: "cancer of lower limb" RELATED [] synonym: "malignant neoplasm of lower limb" EXACT [] is_obsolete: true [Term] id: DOID:10151 name: malignant neoplasm of short bones of lower limb def: "A bone cancer that is located in the short bones of lower limbs." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145567/] synonym: "malignant neoplasm of short bone of lower limb" EXACT [] synonym: "malignant neoplasm of short bones of leg" EXACT [] xref: ICD10CM:C40.3 xref: ICD9CM:170.8 xref: SNOMEDCT_US_2023_03_01:94003005 xref: UMLS_CUI:C0153518 is_a: DOID:184 ! bone cancer [Term] id: DOID:10152 name: Meckel's diverticulum cancer def: "An ileum cancer originating from Meckel's diverticulum." [url:https\://www.ncbi.nlm.nih.gov/articles/PMC6582065/] synonym: "malignant neoplasm of Meckel's diverticulum" EXACT [] synonym: "Meckel diverticulum cancer" EXACT [] xref: ICD9CM:152.3 xref: SNOMEDCT_US_2023_03_01:93890009 xref: UMLS_CUI:C0153429 is_a: DOID:10153 ! ileum cancer [Term] id: DOID:10153 name: ileum cancer def: "A small intestine cancer that is located_in the ileum." [url:http\://en.wikipedia.org/wiki/Ileum] subset: TopNodes_DOcancerslim synonym: "ileal neoplasm" EXACT [] synonym: "malignant neoplasm of ileum" EXACT [] xref: ICD10CM:C17.2 xref: ICD9CM:152.2 xref: SNOMEDCT_US_2023_03_01:93832004 xref: UMLS_CUI:C0153428 is_a: DOID:10154 ! small intestine cancer [Term] id: DOID:10154 name: small intestine cancer def: "An intestinal cancer that is located_in the small intestine." [url:http\://en.wikipedia.org/wiki/Small_intestine] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:9385 xref: ICD10CM:C17 xref: ICD9CM:152.9 xref: NCI:C7523 xref: SNOMEDCT_US_2023_03_01:363509000 xref: UMLS_CUI:C0153425 is_a: DOID:10155 ! intestinal cancer [Term] id: DOID:10155 name: intestinal cancer def: "A gastrointestinal system cancer that is located_in the intestine." [url:http\://en.wikipedia.org/wiki/Intestine] subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "malignant intestinal tumors" EXACT [] synonym: "malignant neoplasm of intestine" EXACT [] xref: ICD10CM:C26.0 xref: ICD9CM:159.0 xref: MESH:D007414 xref: NCI:C4572 xref: SNOMEDCT_US_2023_03_01:93838000 xref: UMLS_CUI:C0346627 is_a: DOID:3119 ! gastrointestinal system cancer is_a: DOID:5295 ! intestinal disease [Term] id: DOID:10156 name: benign ileal neoplasm def: "A small intestine benign neoplasm that affects the wall of the ileum." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3130] comment: NCI and MESH IDs are for both malignant and benign forms, removed from this record.[LS] subset: NCIthesaurus synonym: "Ileal tumor" EXACT [] xref: MESH:D007078 xref: NCI:C3130 xref: SNOMEDCT_US_2023_03_01:254576003 xref: UMLS_CUI:C0020876 is_a: DOID:7505 ! small intestine benign neoplasm [Term] id: DOID:10159 name: osteonecrosis alt_id: DOID:10160 alt_id: DOID:10161 alt_id: DOID:10162 alt_id: DOID:10163 alt_id: DOID:10164 alt_id: DOID:4128 alt_id: DOID:8380 alt_id: DOID:86 def: "An ischemic bone disease that results_in necrosis located_in bone." [url:http\://en.wikipedia.org/wiki/Avascular_necrosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/007260.htm] subset: NCIthesaurus synonym: "aseptic necrosis" EXACT [] synonym: "Avascular necrosis of bone" EXACT [] synonym: "bone necrosis" EXACT [] xref: ICD10CM:M87 xref: ICD10CM:M87.9 xref: ICD9CM:732.3 xref: ICD9CM:733.41 xref: ICD9CM:733.42 xref: ICD9CM:733.43 xref: ICD9CM:733.44 xref: MESH:D010020 xref: NCI:C34404 xref: NCI:C34841 xref: NCI:C34880 xref: NCI:C35226 xref: NCI:C35517 xref: SNOMEDCT_US_2023_03_01:156837008 xref: SNOMEDCT_US_2023_03_01:17926002 xref: SNOMEDCT_US_2023_03_01:240196003 xref: SNOMEDCT_US_2023_03_01:29281007 xref: SNOMEDCT_US_2023_03_01:43453000 xref: SNOMEDCT_US_2023_03_01:62100001 xref: SNOMEDCT_US_2023_03_01:83453001 xref: UMLS_CUI:C0003977 xref: UMLS_CUI:C0027543 xref: UMLS_CUI:C0029445 xref: UMLS_CUI:C0158442 xref: UMLS_CUI:C0158449 xref: UMLS_CUI:C0158450 xref: UMLS_CUI:C0158451 xref: UMLS_CUI:C0745048 is_a: DOID:0080008 ! ischemic bone disease [Term] id: DOID:1016 name: obsolete primary tuberculosis subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:10173 name: obsolete tuberculous myelitis alt_id: DOID:6356 subset: gram-positive_bacterial_infectious_disease synonym: "tuberculoma of spinal cord" EXACT [] synonym: "Tuberculous abscess of spinal cord" EXACT [] is_obsolete: true [Term] id: DOID:10174 name: lacrimal passage granuloma synonym: "Granuloma of lacrimal passages" EXACT [] xref: ICD10CM:H04.81 xref: ICD9CM:375.81 xref: SNOMEDCT_US_2023_03_01:194001006 xref: UMLS_CUI:C0155253 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:10175 name: optic papillitis def: "An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc." [url:https\://en.wikipedia.org/wiki/Optic_papillitis] subset: NCIthesaurus synonym: "papillitis" EXACT [] xref: ICD10CM:H35.81 xref: ICD10CM:H47.1 xref: ICD10CM:H47.11 xref: ICD9CM:362.83 xref: ICD9CM:377.0 xref: ICD9CM:377.01 xref: MESH:D010211 xref: NCI:C3307 xref: SNOMEDCT_US_2023_03_01:3170006 xref: SNOMEDCT_US_2023_03_01:423488006 xref: SNOMEDCT_US_2023_03_01:6141006 xref: UMLS_CUI:C0030353 xref: UMLS_CUI:C0155288 xref: UMLS_CUI:C0242420 xref: UMLS_CUI:C0919308 is_a: DOID:1210 ! optic neuritis [Term] id: DOID:10176 name: neuroretinitis def: "An eye disease that is characterized by inflammation of the retina." [url:https\://eyewiki.aao.org/Neuroretinitis] synonym: "Focal retinitis and retinochoroiditis, juxtapapillary" EXACT [] synonym: "Juxtapapillary focal retinitis AND retinochoroiditis" EXACT [] synonym: "Papilloretinitis" EXACT [] xref: ICD10CM:H30.9 xref: MESH:D012173 xref: SNOMEDCT_US_2023_03_01:410471004 xref: UMLS_CUI:C0154874 is_a: DOID:5614 ! eye disease [Term] id: DOID:10177 name: malignant hypertensive renal disease xref: SNOMEDCT_US_2023_03_01:65443008 xref: UMLS_CUI:C0155593 is_a: DOID:1073 ! renal hypertension [Term] id: DOID:10182 name: obsolete diabetic peripheral angiopathy is_obsolete: true [Term] id: DOID:10183 name: endobronchial lipoma def: "A lipoma that is located within the lumen of a bronchus." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563533/] subset: NCIthesaurus xref: NCI:C5063 xref: UMLS_CUI:C0852937 is_a: DOID:3315 ! lipoma is_a: DOID:3906 ! bronchial benign neoplasm [Term] id: DOID:10184 name: spindle cell lipoma def: "A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men." [url:http\://en.wikipedia.org/wiki/Lipoma] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8857/0 xref: NCI:C4254 xref: SNOMEDCT_US_2023_03_01:27313007 xref: UMLS_CUI:C0334474 is_a: DOID:3315 ! lipoma [Term] id: DOID:10187 name: esophageal lipoma def: "A lipoma located in the esophagus." [url:https\://radiopaedia.org/articles/oesophageal-lipoma?lang=us, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043252/] subset: NCIthesaurus synonym: "Lipoma of esophagus" EXACT [] xref: NCI:C5701 xref: UMLS_CUI:C1333455 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:3315 ! lipoma is_a: DOID:6050 ! esophageal disease [Term] id: DOID:10188 name: skin lipoma alt_id: DOID:10198 alt_id: DOID:3943 def: "A skin benign neoplasm that derives_from fat cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23600336] subset: NCIthesaurus synonym: "Cutaneous Lipoma" EXACT [] synonym: "cutaneous lipomatous tumor" EXACT [] synonym: "lipoma of face" EXACT [] synonym: "Lipoma of skin" EXACT [] xref: ICD9CM:214.0 xref: NCI:C4616 xref: NCI:C5566 xref: SNOMEDCT_US_2023_03_01:255187008 xref: SNOMEDCT_US_2023_03_01:93159009 xref: UMLS_CUI:C0153968 xref: UMLS_CUI:C0347394 xref: UMLS_CUI:C1333174 is_a: DOID:3165 ! skin benign neoplasm is_a: DOID:3315 ! lipoma [Term] id: DOID:1019 name: osteomyelitis alt_id: DOID:1018 alt_id: DOID:1020 alt_id: DOID:10281 alt_id: DOID:10282 alt_id: DOID:10692 alt_id: DOID:10860 alt_id: DOID:1164 alt_id: DOID:11788 alt_id: DOID:11959 alt_id: DOID:12011 alt_id: DOID:13673 alt_id: DOID:13674 alt_id: DOID:13675 alt_id: DOID:13678 alt_id: DOID:13684 alt_id: DOID:13737 alt_id: DOID:14003 alt_id: DOID:14100 alt_id: DOID:14166 alt_id: DOID:2249 alt_id: DOID:2250 alt_id: DOID:5858 alt_id: DOID:9456 def: "A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow." [url:http\://en.wikipedia.org/wiki/Osteomyelitis, url:http\://my.clevelandclinic.org/disorders/osteomyelitis/hic_osteomyelitis.aspx, url:http\://www.mayoclinic.com/health/osteomyelitis/DS00759, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000437.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim xref: GARD:7286 xref: ICD9CM:730.1 xref: SNOMEDCT_US_2023_03_01:203181001 xref: UMLS_CUI:C0008707 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:1564 ! fungal infectious disease is_a: DOID:3342 ! bone inflammation disease [Term] id: DOID:10190 name: liver lipoma def: "A lipoma located in the liver." [url:https\://radiopaedia.org/articles/hepatic-lipoma-2?lang=us] subset: NCIthesaurus synonym: "hepatic lipoma" EXACT [] synonym: "Lipoma of the Liver" EXACT [] xref: NCI:C5750 xref: UMLS_CUI:C1333970 is_a: DOID:3315 ! lipoma is_a: DOID:916 ! liver benign neoplasm [Term] id: DOID:10191 name: obsolete autosomal deletion syndrome is_obsolete: true [Term] id: DOID:10192 name: pleomorphic lipoma def: "A lipoma that is characterized by floret giant cells with overlapping nuclei." [url:http\://en.wikipedia.org/wiki/Pleomorphic_lipoma] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8854/0 xref: MESH:D008067 xref: NCI:C3703 xref: SNOMEDCT_US_2023_03_01:189783001 xref: UMLS_CUI:C0205823 is_a: DOID:3315 ! lipoma [Term] id: DOID:10193 name: conventional lipoma def: "A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones." [url:https\://pubmed.ncbi.nlm.nih.gov/26857660/] subset: NCIthesaurus synonym: "classic type lipoma" EXACT [] xref: NCI:C27530 xref: UMLS_CUI:C1333059 is_a: DOID:3315 ! lipoma [Term] id: DOID:10194 name: kidney lipoma def: "A lipoma that is located in the kidney." [url:https\://www.mayoclinic.org/diseases-conditions/lipoma/symptoms-causes/syc-20374470] subset: NCIthesaurus synonym: "Lipoma of kidney" EXACT [] xref: NCI:C5101 xref: UMLS_CUI:C1335744 is_a: DOID:3116 ! kidney benign neoplasm is_a: DOID:3315 ! lipoma [Term] id: DOID:10195 name: pleural lipoma def: "A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29222220] subset: NCIthesaurus synonym: "Lipoma of Pleura" EXACT [] xref: NCI:C6644 xref: SNOMEDCT_US_2023_03_01:2460001000004103 xref: UMLS_CUI:C1335434 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:1532 ! pleural disease is_a: DOID:3315 ! lipoma [Term] id: DOID:10199 name: breast lipoma def: "A breast benign neoplasm that is composed of lipocytes." [url:https\://en.wikipedia.org/wiki/Benign_tumor] subset: NCIthesaurus synonym: "Lipoma of breast" EXACT [] xref: NCI:C4647 xref: SNOMEDCT_US_2023_03_01:276891009 xref: UMLS_CUI:C0349565 is_a: DOID:0060082 ! breast benign neoplasm is_a: DOID:3315 ! lipoma [Term] id: DOID:10200 name: chest wall lipoma def: "A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23919840] subset: NCIthesaurus synonym: "Lipoma of the Chest Wall" EXACT [] xref: NCI:C6719 xref: SNOMEDCT_US_2023_03_01:448270009 xref: UMLS_CUI:C1332932 is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:3315 ! lipoma [Term] id: DOID:10201 name: gallbladder lipoma def: "A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells." [url:https\://link.springer.com/referenceworkentry/10.1007%2F978-3-319-26587-2_156-1] subset: NCIthesaurus synonym: "Lipoma of the gallbladder" EXACT [] xref: NCI:C5835 xref: UMLS_CUI:C1333747 is_a: DOID:0080640 ! gallbladder benign neoplasm is_a: DOID:3315 ! lipoma [Term] id: DOID:10202 name: obsolete lipoma of intrathoracic organ synonym: "Lipoma of intrathoracic organs (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10203 name: external ear lipoma def: "An auditory system benign neoplasm that is located in the external ear." [url:https\://clinmedjournals.org/articles/ijdrt/journal-of-dermatology-research-and-therapy-ijdrt-1-010.pdf] subset: NCIthesaurus synonym: "external auditory meatus lipoma" EXACT [] synonym: "Lipoma of external auditory meatus" EXACT [] synonym: "Lipoma of the External ear" EXACT [] xref: NCI:C4618 xref: SNOMEDCT_US_2023_03_01:188988008 xref: UMLS_CUI:C0347423 is_a: DOID:0080619 ! auditory system benign neoplasm is_a: DOID:3315 ! lipoma [Term] id: DOID:10204 name: obsolete lipoma of intra-abdominal organ synonym: "Lipoma of intra-abdominal organs (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10205 name: axillary lipoma def: "An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue." [url:http\://en.wikipedia.org/wiki/Axilla, url:http\://en.wikipedia.org/wiki/Lipoma] subset: NCIthesaurus synonym: "Lipoma of axilla" EXACT [] xref: NCI:C35419 xref: SNOMEDCT_US_2023_03_01:188993006 xref: UMLS_CUI:C0347429 is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:3315 ! lipoma [Term] id: DOID:10206 name: lipoma of spermatic cord def: "A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1422475/] subset: NCIthesaurus synonym: "Spermatic Cord Lipoma" EXACT [] xref: ICD9CM:214.4 xref: NCI:C3606 xref: SNOMEDCT_US_2023_03_01:93162007 xref: UMLS_CUI:C0153972 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:10207 ! paratesticular lipoma [Term] id: DOID:10207 name: paratesticular lipoma def: "A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region." [url:https\://pubmed.ncbi.nlm.nih.gov/11103506/] subset: NCIthesaurus xref: NCI:C6384 xref: UMLS_CUI:C1335348 is_a: DOID:0050622 ! reproductive organ benign neoplasm is_a: DOID:3315 ! lipoma [Term] id: DOID:10208 name: chondroid lipoma def: "A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women." [url:http\://en.wikipedia.org/wiki/Lipoma] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8862/0 xref: NCI:C6503 xref: SNOMEDCT_US_2023_03_01:404065000 xref: UMLS_CUI:C1266131 is_a: DOID:3315 ! lipoma [Term] id: DOID:10209 name: extrahepatic bile duct lipoma def: "A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer] subset: NCIthesaurus synonym: "Lipoma of the extrahepatic bile duct" EXACT [] xref: NCI:C5854 xref: UMLS_CUI:C1333509 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:3315 ! lipoma is_a: DOID:4138 ! bile duct disease [Term] id: DOID:10210 name: obsolete calculus of gallbladder and bile duct without cholecystitis alt_id: DOID:10212 synonym: "calculus of gallbladder and bile duct without cholecystitis, with obstruction" EXACT [] is_obsolete: true [Term] id: DOID:10211 name: cholelithiasis xref: EFO:0004799 xref: ICD9CM:574.5 xref: SNOMEDCT_US_2023_03_01:197397004 xref: UMLS_CUI:C0006739 is_a: DOID:0060262 ! gallbladder disease [Term] id: DOID:1022 name: pinta disease alt_id: DOID:1021 alt_id: DOID:10490 alt_id: DOID:1813 alt_id: DOID:3573 def: "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26304920] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus xref: GARD:7397 xref: ICD10CM:A67.0 xref: ICD10CM:A67.1 xref: ICD10CM:A67.2 xref: ICD10CM:A67.3 xref: ICD10CM:A67.9 xref: ICD9CM:103 xref: ICD9CM:103.0 xref: ICD9CM:103.1 xref: ICD9CM:103.2 xref: ICD9CM:103.3 xref: MESH:D010874 xref: NCI:C85011 xref: SNOMEDCT_US_2023_03_01:22064009 xref: SNOMEDCT_US_2023_03_01:240685007 xref: SNOMEDCT_US_2023_03_01:4669001 xref: SNOMEDCT_US_2023_03_01:68202005 xref: SNOMEDCT_US_2023_03_01:73594001 xref: UMLS_CUI:C0031946 xref: UMLS_CUI:C0153241 xref: UMLS_CUI:C0153242 xref: UMLS_CUI:C0153243 xref: UMLS_CUI:C0153244 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:10220 name: obsolete failed induction alt_id: DOID:10221 synonym: "Failed mechanical induction of labor, antepartum" EXACT [] is_obsolete: true [Term] id: DOID:10222 name: obsolete polymyositis is_obsolete: true [Term] id: DOID:10223 name: dermatomyositis def: "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction." [url:http\://en.wikipedia.org/wiki/Dermatomyositis, url:http\://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis] comment: MESH:C538250 added from NeuroDevNet [WAK]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Amyopathic dermatomyositis" RELATED [MESH:C538250] synonym: "dermatopolymyositis" EXACT [] synonym: "Polymyositis with skin involvement" EXACT [] xref: GARD:6263 xref: ICD10CM:M33 xref: ICD9CM:710.3 xref: MESH:D003882 xref: NCI:C26744 xref: SNOMEDCT_US_2023_03_01:38826005 xref: UMLS_CUI:C0011633 is_a: DOID:37 ! skin disease is_a: DOID:633 ! myositis [Term] id: DOID:10226 name: obsolete single episode manic disorder is_obsolete: true [Term] id: DOID:10229 name: obsolete partial epilepsy, with impairment of consciousness, with intractable epilepsy is_obsolete: true [Term] id: DOID:1023 name: borderline leprosy def: "A leprosy that results in small numerous red irregularly shaped plaques." [url:http\://en.wikipedia.org/wiki/Borderline_leprosy] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease synonym: "Borderline or dimorphous leprosy" EXACT [] synonym: "Midborderline leprosy" EXACT [] xref: ICD10CM:A30.3 xref: ICD9CM:030.3 xref: MESH:D015439 xref: SNOMEDCT_US_2023_03_01:50521002 xref: UMLS_CUI:C0023346 is_a: DOID:1024 ! leprosy [Term] id: DOID:10230 name: aortic atherosclerosis synonym: "Atherosclerosis of aorta" EXACT [] xref: ICD10CM:I70.0 xref: ICD9CM:440.0 xref: SNOMEDCT_US_2023_03_01:81817003 xref: UMLS_CUI:C0155733 is_a: DOID:1936 ! atherosclerosis [Term] id: DOID:10233 name: obsolete Histoplasma capsulatum pericarditis def: "An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16924162] synonym: "Histoplasma capsulatum with pericarditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10234 name: histoplasmosis pericarditis synonym: "Histoplasmosis with pericarditis" EXACT [] xref: ICD9CM:115.93 xref: SNOMEDCT_US_2023_03_01:187059008 xref: UMLS_CUI:C0153279 is_a: DOID:1787 ! pericarditis [Term] id: DOID:10235 name: Brown's tendon sheath syndrome def: "A mechanical strabismus that is characterized by impairment of eye movements." [url:https\://rarediseases.org/rare-diseases/brown-syndrome/] subset: DO_rare_slim xref: GARD:5963 xref: ICD10CM:H50.61 xref: ICD9CM:378.61 xref: MESH:D015835 xref: SNOMEDCT_US_2023_03_01:35929003 xref: UMLS_CUI:C0155339 is_a: DOID:9306 ! mechanical strabismus [Term] id: DOID:10236 name: exhibitionism def: "A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger." [url:https\://www.britannica.com/topic/exhibitionism] subset: NCIthesaurus xref: ICD10CM:F65.2 xref: ICD9CM:302.4 xref: MESH:D005084 xref: NCI:C94352 xref: SNOMEDCT_US_2023_03_01:192514003 xref: UMLS_CUI:C0015269 is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:10237 name: obsolete pelvic cancer def: "A malignant neoplasm that is manifested in the pelvic region." [url:http\://www.wrongdiagnosis.com/p/pelvic_cancer/intro.htm] synonym: "neoplasm of pelvis (disorder)" EXACT [] synonym: "pelvis neoplasm" EXACT [] is_obsolete: true [Term] id: DOID:10238 name: obsolete malignant neoplasm of rectum, rectosigmoid junction and anus synonym: "malignant neoplasm of rectum, rectosigmoid junction and anus (disorder)" EXACT [] synonym: "malignant neoplasm of rectum, rectosigmoid junction and anus NOS (disorder)" EXACT [] synonym: "malignant neoplasm of rectum, rectosigmoid junction, and anus" EXACT [] is_obsolete: true [Term] id: DOID:10239 name: obsolete malignant neoplasm of pelvic bones, sacrum and coccyx synonym: "Ca pelvic bones/sacrum/coccyx" EXACT [] synonym: "Ca pelvic bones/sacrum/coccyx (disorder)" EXACT [] synonym: "malignant neoplasm of pelvic bones, sacrum and coccyx (disorder)" EXACT [] synonym: "malignant neoplasm of pelvic bones, sacrum, and coccyx" EXACT [] synonym: "malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1024 name: leprosy def: "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage." [url:http\://en.wikipedia.org/wiki/Leprosy] comment: Xref MGI. subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus xref: EFO:0001054 xref: GARD:6886 xref: ICD10CM:A30 xref: ICD9CM:030 xref: MESH:D007918 xref: MIM:607572 xref: MIM:609888 xref: MIM:613407 xref: NCI:C84824 xref: ORDO:548 xref: SNOMEDCT_US_2023_03_01:154298007 xref: UMLS_CUI:C0023343 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:10240 name: obsolete malignant neoplasm of pelvis synonym: "malignant neoplasm of pelvis NOS (disorder)" EXACT [] synonym: "malignant neoplasm of pelvis, NOS" EXACT [] synonym: "malignant tumor of pelvis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10241 name: thalassemia alt_id: DOID:12242 alt_id: DOID:12243 def: "A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains." [url:https\://www.genome.gov/Genetic-Disorders/Thalassemia, url:https\://www.ncbi.nlm.nih.gov/pubmed/11283697] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Sickle-cell thalassemia with crisis" EXACT [] synonym: "Sickle-cell thalassemia without crisis" EXACT [] synonym: "thalassemia Hb-S disease with crisis" EXACT [] synonym: "thalassemia Hb-S disease without crisis" EXACT [] xref: GARD:7756 xref: ICD10CM:D56 xref: ICD9CM:282.4 xref: MESH:D013789 xref: NCI:C35069 xref: SNOMEDCT_US_2023_03_01:191192008 xref: UMLS_CUI:C0039730 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11252 ! microcytic anemia [Term] id: DOID:10242 name: ehrlichiosis alt_id: DOID:0050023 def: "A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash." [url:http\://en.wikipedia.org/wiki/Ehrlichiosis] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease synonym: "human ehrlichiosis" EXACT [] xref: GARD:2092 xref: ICD10CM:A77.4 xref: ICD9CM:082.4 xref: MESH:D016873 xref: SNOMEDCT_US_2023_03_01:77361002 xref: UMLS_CUI:C0085399 is_a: DOID:0050338 ! primary bacterial infectious disease property_value: exactMatch "MESH:D016873" xsd:string [Term] id: DOID:10245 name: obsolete delayed separation of umbilical cord is_obsolete: true [Term] id: DOID:10247 name: pleurisy def: "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs." [url:http\://en.wikipedia.org/wiki/Pleurisy, url:http\://www.merck.com/mmhe/sec04/ch052/ch052b.html#sb052_2] xref: ICD9CM:511.8 xref: UMLS_CUI:C0029799 is_a: DOID:1532 ! pleural disease [Term] id: DOID:1025 name: tuberculoid leprosy def: "A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center." [url:http\://en.wikipedia.org/wiki/Tuberculoid_leprosy] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease synonym: "Smooth leprosy" EXACT [] synonym: "type T leprosy" EXACT [] xref: ICD10CM:A30.1 xref: ICD9CM:030.1 xref: MESH:D015441 xref: SNOMEDCT_US_2023_03_01:70143003 xref: UMLS_CUI:C0023351 is_a: DOID:1024 ! leprosy [Term] id: DOID:10250 name: louping ill def: "A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15606630] subset: DO_infectious_disease_slim subset: tick-borne_infectious_disease xref: ICD10CM:A84.89 xref: ICD9CM:063.1 xref: MESH:D008146 xref: SNOMEDCT_US_2023_03_01:59350003 xref: UMLS_CUI:C0024025 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:10254 name: strawberry gallbladder synonym: "Cholesterolosis of gallbladder" EXACT [] xref: ICD10CM:K82.4 xref: ICD9CM:575.6 xref: SNOMEDCT_US_2023_03_01:61565001 xref: UMLS_CUI:C0152456 is_a: DOID:0060262 ! gallbladder disease [Term] id: DOID:10255 name: obsolete conjunctival degenerations and deposits synonym: "Conjunctival degenerations and deposits (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10256 name: obsolete vitamin A deficiency with conjunctival xerosis synonym: "vitamin A deficiency with conjunctival xerosis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10257 name: obsolete vitamin A deficiency is_obsolete: true [Term] id: DOID:10261 name: otorrhea def: "An auditory system disease that is characterized by the discharge or drainage of fluid from the ear." [url:https\://medlineplus.gov/ency/article/003042.htm] subset: NCIthesaurus synonym: "discharging ear" EXACT [] xref: ICD10CM:H92.1 xref: ICD9CM:388.6 xref: NCI:C35199 xref: SNOMEDCT_US_2023_03_01:300132001 xref: UMLS_CUI:C0155540 is_a: DOID:2742 ! auditory system disease [Term] id: DOID:10263 name: obsolete Mumps virus hepatitis def: "A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine." [url:http\://www.ncbi.nlm.nih.gov/pubmed/13361586] synonym: "Mumps hepatitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10264 name: mumps def: "A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus, which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face." [url:http\://www.cdc.gov/mumps/about/downloads/mumps-factsheet.pdf] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7116 xref: ICD10CM:B26 xref: ICD9CM:072 xref: MESH:D009107 xref: NCI:C29888 xref: SNOMEDCT_US_2023_03_01:154352008 xref: UMLS_CUI:C0026780 is_a: DOID:10854 ! salivary gland disease is_a: DOID:10883 ! herpangina [Term] id: DOID:10265 name: obsolete hairy cell leukemia of spleen is_obsolete: true [Term] id: DOID:10266 name: subendocardial infarction acute myocardial infarction xref: ICD9CM:410.7 xref: UMLS_CUI:C0155655 is_a: DOID:9408 ! acute myocardial infarction [Term] id: DOID:10272 name: left bundle branch hemiblock synonym: "Left bundle branch block" EXACT [] xref: ICD10CM:I44.60 xref: ICD9CM:426.2 xref: SNOMEDCT_US_2023_03_01:266245009 xref: UMLS_CUI:C0155702 is_a: DOID:10273 ! heart conduction disease [Term] id: DOID:10273 name: heart conduction disease def: "A cardiovascular system disease that involves the heart's electrical conduction system." [url:http\://en.wikipedia.org/wiki/Conduction_system_of_the_heart] subset: DO_RAD_slim synonym: "heart rhythm disease" EXACT [] xref: ICD9CM:426.6 xref: SNOMEDCT_US_2023_03_01:195053008 xref: UMLS_CUI:C0029630 is_a: DOID:114 ! heart disease [Term] id: DOID:10274 name: obsolete schizo-affective type schizophrenia in remission is_obsolete: true [Term] id: DOID:10277 name: obsolete Pseudomonas intestinal infectious disease def: "A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess." [url:http\://emedicine.medscape.com/article/970904-overview] subset: gram-negative_bacterial_infectious_disease synonym: "intestinal infection due to Pseudomonas (disorder)" EXACT [] synonym: "intestinal infectious disease due to pseudomonas" EXACT [] is_obsolete: true [Term] id: DOID:10278 name: obsolete Vasa previa complicating labor and delivery synonym: "Vasa previa complicating labor and delivery, unspecified as to episode of care" EXACT [] is_obsolete: true [Term] id: DOID:10279 name: obsolete Vasa previa synonym: "Vasa praevia" EXACT [] synonym: "Vasa previa (disorder)" EXACT [] synonym: "Vasa previa complicating labor and delivery, antepartum" EXACT [] synonym: "Vasa previa NOS (disorder)" EXACT [] synonym: "Vasa previa unspecified (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10280 name: obsolete Vasa previa complicating labor and delivery, delivered is_obsolete: true [Term] id: DOID:10283 name: prostate cancer alt_id: DOID:514 def: "A male reproductive organ cancer that is located_in the prostate." [url:http\://www.cancer.gov/dictionary?CdrID=445079, url:https\://www.genome.gov/Genetic-Disorders/Prostate-Cancer] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_CFDE_slim subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "hereditary prostate cancer" EXACT [] synonym: "malignant tumor of the prostate" EXACT [] synonym: "NGP - new growth of prostate" EXACT [] synonym: "prostate cancer, familial" EXACT [] synonym: "prostate neoplasm" EXACT [] synonym: "prostatic cancer" EXACT [] synonym: "prostatic neoplasm" EXACT [] synonym: "tumor of the prostate" EXACT [] xref: ICD10CM:C61 xref: ICD9CM:185 xref: KEGG:05215 xref: MESH:D011471 xref: MIM:176807 xref: MIM:300147 xref: MIM:300704 xref: MIM:601518 xref: MIM:602759 xref: MIM:608656 xref: MIM:608658 xref: MIM:609299 xref: MIM:609558 xref: MIM:610321 xref: MIM:610997 xref: MIM:611100 xref: MIM:611868 xref: MIM:611928 xref: MIM:611955 xref: MIM:611958 xref: MIM:611959 xref: NCI:C3343 xref: NCI:C7378 xref: ORDO:1331 xref: SNOMEDCT_US_2023_03_01:126906006 xref: SNOMEDCT_US_2023_03_01:93974005 xref: UMLS_CUI:C0033578 xref: UMLS_CUI:C0376358 is_a: DOID:3856 ! male reproductive organ cancer is_a: DOID:47 ! prostate disease [Term] id: DOID:10286 name: prostate carcinoma def: "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: DO_cancer_slim subset: DO_RAD_slim subset: NCIthesaurus synonym: "cancer of prostate" EXACT [] synonym: "carcinoma of prostate" EXACT [] xref: EFO:0001663 xref: KEGG:05215 xref: NCI:C4863 xref: SNOMEDCT_US_2023_03_01:254900004 xref: UMLS_CUI:C0600139 is_a: DOID:10283 ! prostate cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:10287 name: prostate squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the prostate." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23877521] subset: NCIthesaurus xref: NCI:C5536 xref: SNOMEDCT_US_2023_03_01:399590005 xref: UMLS_CUI:C1302530 is_a: DOID:10286 ! prostate carcinoma is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:10288 name: obsolete metastasis to prostate synonym: "metastatic neoplasm to the prostate" EXACT [] synonym: "secondary malignant neoplasm of prostate (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10289 name: prostate malignant phyllodes tumor def: "A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland." [url:https\://www.hindawi.com/journals/jo/2009/241270/] subset: NCIthesaurus synonym: "malignant Phyllodes neoplasm of the prostate" EXACT [] xref: MESH:C549759 xref: NCI:C5531 xref: UMLS_CUI:C1334615 is_a: DOID:10283 ! prostate cancer [Term] id: DOID:1029 name: familial periodic paralysis def: "A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells." [url:https\://www.cedars-sinai.org/health-library/diseases-and-conditions/p/periodic-paralysis.html, url:https\://www.ninds.nih.gov/health-information/disorders/familial-periodic-paralyses] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6422 xref: ICD10CM:G72.3 xref: MESH:D010245 xref: NCI:C84709 xref: SNOMEDCT_US_2023_03_01:193241004 xref: UMLS_CUI:C0030443 is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:10290 name: prostate lymphoma def: "A prostate cancer that affects lymphocytes and arises from the prostate gland." [url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6614933/] subset: NCIthesaurus synonym: "lymphoma of prostate" EXACT [] xref: NCI:C5533 xref: UMLS_CUI:C1335512 is_a: DOID:0060058 ! lymphoma is_a: DOID:10283 ! prostate cancer [Term] id: DOID:10293 name: monocular esotropia def: "An esotropia that is characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance." [url:https\://en.wikipedia.org/wiki/Esotropia] xref: ICD10CM:H50.01 xref: ICD9CM:378.01 xref: MESH:D004948 xref: SNOMEDCT_US_2023_03_01:194075001 xref: UMLS_CUI:C0152204 is_a: DOID:9840 ! esotropia [Term] id: DOID:10294 name: obsolete intermittent monocular esotropia synonym: "Intermittent esotropia, monocular" EXACT [] synonym: "Intermittent monocular esotropia (disorder)" EXACT [] synonym: "Monocular intermittent esotropia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10295 name: obsolete monocular esotropia with A pattern synonym: "Monocular esotropia with A pattern (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10296 name: obsolete monocular esotropia with V pattern synonym: "Monocular esotropia with V pattern (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10300 name: Raynaud disease def: "A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress." [url:https\://medlineplus.gov/raynaudsdisease.html, url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/raynauds-phenomenon] comment: OMIM mapping confirmed by DO. [SN]. synonym: "Raynaud's disease" EXACT [] synonym: "Raynaud's syndrome" EXACT [] xref: ICD10CM:I73.0 xref: MESH:D011928 xref: MIM:179600 xref: SNOMEDCT_US_2023_03_01:195295006 xref: UMLS_CUI:C0034734 is_a: DOID:341 ! peripheral vascular disease property_value: exactMatch "MESH:D011928" xsd:string [Term] id: DOID:10301 name: parotitis def: "A parotid disease characterized by the inflammation of one or both parotid glands." [url:http\://en.wikipedia.org/wiki/Parotitis] subset: NCIthesaurus xref: ICD10CM:K11.2 xref: MESH:D010309 xref: NCI:C114281 xref: SNOMEDCT_US_2023_03_01:196481002 xref: UMLS_CUI:C0030583 is_a: DOID:10302 ! parotid disease property_value: exactMatch "MESH:D010309" xsd:string [Term] id: DOID:10302 name: parotid disease def: "A salivary gland disease that is located in the parotid gland." [url:https\://www.mayoclinic.org/diseases-conditions/parotid-tumor/cdc-20388269] xref: MESH:D010305 xref: UMLS_CUI:C0030579 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:10303 name: sialadenitis def: "A salivary gland disease that is characterized as an infection of the salivary glands." [url:https\://rarediseases.info.nih.gov/diseases/7638/sialadenitis] subset: DO_rare_slim subset: NCIthesaurus synonym: "Sialoadenitis" EXACT [] xref: GARD:7638 xref: ICD10CM:K11.2 xref: ICD9CM:527.2 xref: MESH:D012793 xref: NCI:C26882 xref: SNOMEDCT_US_2023_03_01:42982001 xref: UMLS_CUI:C0037023 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:10304 name: obsolete Mumps virus infectious disease def: "A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person." [url:http\://www.expasy.org/viralzone/all_by_species/88.html] synonym: "Rubulavirus infectious disease" EXACT [] is_obsolete: true [Term] id: DOID:10305 name: obsolete Mumps virus orchitis def: "A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001280.htm] synonym: "Mumps orchitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10307 name: obsolete Mumps virus polyneuritis def: "A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness." [url:http\://www.merckmanuals.com/home/sec06/ch095/ch095h.html, url:http\://www.merckmanuals.com/professional/sec14/ch193/ch193d.html] synonym: "Mumps polyneuropathy (disorder)" EXACT [] synonym: "Polyneuropathy in mumps (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10309 name: obsolete Mumps virus meningitis def: "A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness." [url:http\://www.cyh.com/HealthTopics/HealthTopicDetails.aspx?p=114&np=303&id=1784] synonym: "Mumps meningitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10310 name: viral meningitis def: "A meningitis that has_material_basis_in a viral infection." [url:https\://en.wikipedia.org/wiki/Viral_meningitis] subset: DO_infectious_disease_slim subset: NCIthesaurus xref: ICD10CM:A87 xref: ICD9CM:047.9 xref: MESH:D008587 xref: NCI:C118298 xref: SNOMEDCT_US_2023_03_01:154321007 xref: UMLS_CUI:C0025297 is_a: DOID:934 ! viral infectious disease is_a: DOID:9471 ! meningitis [Term] id: DOID:10311 name: obsolete Mumps virus encephalitis def: "A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/5046780] synonym: "Mumps encephalitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10312 name: obsolete Mumps virus pancreatitis def: "A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting." [url:http\://emedicine.medscape.com/article/966678-overview] synonym: "Mumps pancreatitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10314 name: endocarditis alt_id: DOID:14058 def: "A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves." [url:http\://en.wikipedia.org/wiki/Endocarditis, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/endo/] subset: NCIthesaurus xref: ICD10CM:I33.9 xref: ICD9CM:421.9 xref: MESH:D004696 xref: NCI:C34582 xref: NCI:C35432 xref: SNOMEDCT_US_2023_03_01:56819008 xref: SNOMEDCT_US_2023_03_01:91357005 xref: UMLS_CUI:C0014118 xref: UMLS_CUI:C0375268 is_a: DOID:0050825 ! endocardium disease [Term] id: DOID:10316 name: pneumoconiosis def: "An interstitial lung disease that is caused by the inhalation of dust." [url:http\://en.wikipedia.org/wiki/Pneumoconiosis] subset: NCIthesaurus xref: ICD10CM:J64 xref: ICD9CM:505 xref: MESH:D011009 xref: NCI:C26861 xref: SNOMEDCT_US_2023_03_01:196004000 xref: UMLS_CUI:C0032273 is_a: DOID:3082 ! interstitial lung disease [Term] id: DOID:10319 name: mixed mineral dust pneumoconiosis def: "A pneumoconiosis caused by the inhalation of mixed mineral dust particles." [url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6928373/] subset: NCIthesaurus xref: NCI:C27559 xref: SNOMEDCT_US_2023_03_01:233759002 xref: UMLS_CUI:C0340184 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10320 name: asbestosis def: "A pneumoconiosis caused by inhalation and retention of asbestos fibers." [url:http\://en.wikipedia.org/wiki/Asbestosis] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5852 xref: ICD10CM:J61 xref: ICD9CM:501 xref: MESH:D001195 xref: NCI:C84573 xref: SNOMEDCT_US_2023_03_01:266400008 xref: UMLS_CUI:C0003949 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10321 name: baritosis def: "A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops." [url:https\://rarediseases.info.nih.gov/diseases/8371/baritosis] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:8371 xref: MESH:C537080 xref: NCI:C34410 xref: SNOMEDCT_US_2023_03_01:50076003 xref: UMLS_CUI:C0340177 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10322 name: berylliosis def: "A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." [url:http\://en.wikipedia.org/wiki/Berylliosis] {comment="sn:IEDB"} synonym: "beryllium poisoning" EXACT [] xref: ICD10CM:J63.2 xref: MESH:D001607 xref: SNOMEDCT_US_2023_03_01:8247009 xref: UMLS_CUI:C0005138 is_a: DOID:0060496 ! respiratory allergy is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10323 name: byssinosis def: "A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767605/] subset: DO_rare_slim subset: NCIthesaurus synonym: "cotton mill fever" EXACT [] synonym: "Flax-dressers' disease" EXACT [] synonym: "Stripper's asthma" EXACT [] xref: GARD:5976 xref: ICD10CM:J66.0 xref: MESH:D002095 xref: NCI:C84605 xref: SNOMEDCT_US_2023_03_01:155589004 xref: UMLS_CUI:C0006542 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10324 name: anthracosilicosis def: "A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765255/] subset: NCIthesaurus xref: ICD10CM:J60 xref: MESH:D000874 xref: NCI:C34389 xref: SNOMEDCT_US_2023_03_01:33548005 xref: UMLS_CUI:C0003164 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10325 name: silicosis alt_id: DOID:14007 def: "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." [url:http\://en.wikipedia.org/wiki/Silicosis] {comment="ls:IEDB"} subset: DO_rare_slim subset: NCIthesaurus synonym: "Pneumoconiosis due to silicates" EXACT [] synonym: "Silica pneumoconiosis" EXACT [] synonym: "Silicotic fibrosis of lung" EXACT [] synonym: "silicotuberculosis" EXACT [] xref: GARD:7647 xref: ICD10CM:J62.8 xref: ICD9CM:502 xref: MESH:D012829 xref: NCI:C3369 xref: SNOMEDCT_US_2023_03_01:155590008 xref: UMLS_CUI:C0037116 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10326 name: Caplan's syndrome def: "A pneumoconiosis that results_in humans that also have rheumatoid arthritis." [url:http\://en.wikipedia.org/wiki/Caplan%27s_syndrome, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000137.htm] synonym: "Caplan syndrome" EXACT [] synonym: "Caplan's disease" EXACT [] synonym: "Caplans syndrome" EXACT [] synonym: "Rheumatoid pneumoconiosis" EXACT [] xref: MESH:D002205 xref: SNOMEDCT_US_2023_03_01:111280008 xref: UMLS_CUI:C0006915 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10327 name: anthracosis def: "A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386010/] subset: NCIthesaurus synonym: "black lung" EXACT [] synonym: "Coal Miner's Pneumoconiosis" EXACT [] synonym: "Coal workers' lung" EXACT [] synonym: "Coal workers' pneumoconiosis" EXACT [] synonym: "Melanoedema" EXACT [] xref: ICD10CM:J60 xref: ICD9CM:500 xref: MESH:D055008 xref: NCI:C34390 xref: SNOMEDCT_US_2023_03_01:29422001 xref: UMLS_CUI:C0003165 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10328 name: siderosis def: "A pneumoconiosis that is characterized by the deposition of excess iron in body tissue resulting from inhalation of iron in the mining dust or welding fumes." [url:https\://en.wikipedia.org/wiki/Siderosis] subset: DO_rare_slim synonym: "pulmonary siderosis" EXACT [] xref: GARD:7645 xref: ICD10CM:J63.4 xref: MESH:D012806 xref: SNOMEDCT_US_2023_03_01:155591007 xref: UMLS_CUI:C0037061 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10329 name: pulmonary talcosis def: "A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc." [url:https\://diagnosticpathology.biomedcentral.com/articles/10.1186/1746-1596-7-26, url:https\://pubmed.ncbi.nlm.nih.gov/34390717/, url:https\://pubmed.ncbi.nlm.nih.gov/34401315/, url:https\://radiopaedia.org/articles/talcosis-1] subset: NCIthesaurus synonym: "pneumoconiosis due to talc" EXACT [] synonym: "talc pneumoconiosis" EXACT [] synonym: "talcosis" EXACT [] xref: ICD10CM:J62.0 xref: NCI:C27026 xref: SNOMEDCT_US_2023_03_01:73144008 xref: UMLS_CUI:C0238377 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10330 name: slate pneumoconiosis def: "A pneumoconiosis that is caused by exposure to slate dust." [url:https\://academic.oup.com/occmed/article/67/1/20/2420658, url:https\://pubmed.ncbi.nlm.nih.gov/7426466/] subset: NCIthesaurus synonym: "Schistosis" EXACT [] xref: NCI:C35397 xref: SNOMEDCT_US_2023_03_01:1259003 xref: UMLS_CUI:C0340186 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10331 name: kaolin pneumoconiosis def: "A pneumoconiosis that is caused by inhalation of kaolin dust." [url:https\://www.amjmed.com/article/S0002-9343%2820%2930716-6/fulltext] subset: DO_rare_slim subset: NCIthesaurus synonym: "Kaolinosis" EXACT [] xref: GARD:8355 xref: NCI:C35315 xref: SNOMEDCT_US_2023_03_01:36696005 xref: UMLS_CUI:C0264435 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10332 name: obsolete disorder of optic chiasm due to vascular disorder synonym: "disorder of optic chiasm associated with vascular disorder" EXACT [] is_obsolete: true [Term] id: DOID:10334 name: obsolete craniofacial abnormality alt_id: DOID:1295 synonym: "Congenital abnormality of skull and face bones (disorder)" EXACT [] synonym: "Congenital anomalies of skull and face bones" EXACT [] synonym: "Skull and face &/or face bone anomalies" EXACT [] synonym: "Skull or face bone anomaly NOS" EXACT [] synonym: "Skull or face bone anomaly NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10337 name: glaucomatous atrophy of optic disc def: "An optic atrophy that is characterized by optic nerve damage with increased optic cup to disc ratio secondary to glaucoma, which is an eye disease related to abnormal aqueous fluid outflow that inappropriately raises intraocular pressure and results in optic nerve atrophy with progressive visual field loss. Glaucomatous atrophy of optic disc can be caused by any form of glaucoma." [url:https\://en.wikipedia.org/wiki/Glaucoma#Primary_glaucoma_and_its_variants, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083760/] synonym: "Glaucomatous atrophy [cupping] of optic disc" EXACT [] xref: ICD10CM:H47.23 xref: ICD9CM:377.14 xref: SNOMEDCT_US_2023_03_01:1207009 xref: UMLS_CUI:C0271342 is_a: DOID:5723 ! optic atrophy [Term] id: DOID:10338 name: obsolete subchronic schizophrenia synonym: "subchronic Schizophrenia" EXACT [] synonym: "subchronic schizophrenia (disorder)" EXACT [] synonym: "Unspecified schizophrenia, subchronic state" EXACT [] is_obsolete: true [Term] id: DOID:10339 name: obsolete schizophrenia simplex synonym: "simple schizophrenia" EXACT [] synonym: "simple schizophrenia (disorder)" EXACT [] synonym: "simple schizophrenia NOS (disorder)" EXACT [] synonym: "simple type Schizophrenia" EXACT [] synonym: "simple type schizophrenia" EXACT [] synonym: "simple type schizophrenia, unspecified state" EXACT [] is_obsolete: true [Term] id: DOID:10340 name: obsolete residual subchronic schizophrenia synonym: "Residual schizophrenia, subchronic state" EXACT [] synonym: "subchronic residual schizophrenia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10341 name: chronic meningitis xref: ICD10CM:G03.1 xref: ICD9CM:322.2 xref: SNOMEDCT_US_2023_03_01:21664006 xref: UMLS_CUI:C0154653 is_a: DOID:9471 ! meningitis [Term] id: DOID:10342 name: obsolete subchronic latent schizophrenia synonym: "Latent schizophrenia, subchronic state" EXACT [] synonym: "Latent subchronic Schizophrenia" EXACT [] synonym: "subchronic latent schizophrenia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10343 name: obsolete latent schizophrenia synonym: "Latent Schizophrenia" EXACT [] synonym: "Latent schizophrenia" EXACT [] synonym: "Latent schizophrenia (disorder)" EXACT [] synonym: "Latent schizophrenia NOS (disorder)" EXACT [] synonym: "Latent schizophrenia, unspecified state" EXACT [] synonym: "Latent schizophrenic reaction" EXACT [] synonym: "Unspecified latent schizophrenia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10348 name: blepharophimosis def: "An eyelid disease that is characterized by abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids." [url:https\://en.wikipedia.org/wiki/Blepharophimosis] subset: DO_rare_slim xref: GARD:5932 xref: ICD10CM:H02.52 xref: ICD9CM:374.46 xref: MESH:D016569 xref: UMLS_CUI:C0005744 is_a: DOID:0080015 ! physical disorder is_a: DOID:530 ! eyelid disease property_value: exactMatch "MESH:D016569" xsd:string [Term] id: DOID:10349 name: solitary cyst of breast def: "A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14223874] subset: NCIthesaurus synonym: "Solitary Cyst of the breast" EXACT [] xref: ICD10CM:N60.0 xref: ICD9CM:610.0 xref: NCI:C3378 xref: SNOMEDCT_US_2023_03_01:270538000 xref: UMLS_CUI:C0037619 is_a: DOID:10350 ! breast cyst [Term] id: DOID:1035 name: aggressive NK-cell leukemia def: "A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen." [url:https\://en.wikipedia.org/wiki/Aggressive_NK-cell_leukemia, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C8647, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191480/] subset: NCIthesaurus synonym: "aggressive NK-cell leukaemia" EXACT [] synonym: "large granular Lymphocyte Leukemia, NK-cell type" EXACT [] synonym: "natural killer cell leukaemia" EXACT [] synonym: "natural killer cell leukemia" EXACT [] xref: ICD10CM:C94.8 xref: ICDO:9948/3 xref: NCI:C8647 xref: SNOMEDCT_US_2023_03_01:128833001 xref: UMLS_CUI:C1292777 is_a: DOID:0050687 ! cell type cancer is_a: DOID:1240 ! leukemia [Term] id: DOID:10350 name: breast cyst def: "A breast benign neoplasm that is characterized by a fluid-filled sac." [url:https\://en.wikipedia.org/wiki/Breast_cyst] subset: NCIthesaurus synonym: "Cyst of the breast" EXACT [] xref: ICD10CM:N60.0 xref: MESH:D047688 xref: NCI:C5315 xref: SNOMEDCT_US_2023_03_01:56726003 xref: UMLS_CUI:C0006144 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:10351 name: obsolete mammary duct ectasia synonym: "Comedomastitis" EXACT [] synonym: "Mammary duct ectasia (disorder)" EXACT [] synonym: "Mammary duct ectasia [Ambiguous]" EXACT [] is_obsolete: true [Term] id: DOID:10352 name: breast fibroadenosis def: "A breast benign neoplasm that has_material_basis_in fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures." [url:https\://en.wikipedia.org/wiki/Fibrosis, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2429655/?page=1] synonym: "Fibroadenosis - breast" EXACT [] synonym: "Fibroadenosis of breast" EXACT [] xref: ICD10CM:N60.2 xref: ICD9CM:610.2 xref: SNOMEDCT_US_2023_03_01:270893004 xref: UMLS_CUI:C1305875 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:10353 name: fibrosclerosis of breast def: "A non-proliferative fibrocystic change of the breast that contains scar tissue." [url:https\://en.wikipedia.org/wiki/Fibrosclerosis_of_breast] subset: NCIthesaurus synonym: "Fibrosis of the breast" EXACT [] xref: ICD10CM:N60.3 xref: ICD9CM:610.3 xref: NCI:C3660 xref: SNOMEDCT_US_2023_03_01:29070004 xref: UMLS_CUI:C0156318 is_a: DOID:5997 ! non-proliferative fibrocystic change of the breast [Term] id: DOID:10354 name: breast fibrocystic disease def: "A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3511705] subset: NCIthesaurus synonym: "breast Fibrocystic Change" EXACT [] synonym: "Diffuse cystic mastopathy" EXACT [] synonym: "Fibrocystic disease of breast" EXACT [] xref: ICD10CM:N60.1 xref: ICD9CM:610.1 xref: MESH:D005348 xref: NCI:C3039 xref: SNOMEDCT_US_2023_03_01:198091009 xref: UMLS_CUI:C0016034 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:1036 name: chronic leukemia def: "A leukemia that develops slowly." [url:http\://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html] subset: DO_cancer_slim subset: NCIthesaurus synonym: "adult chronic leukemia" RELATED [] synonym: "CLL" RELATED OMO:0003012 [] synonym: "CML" RELATED OMO:0003012 [] xref: NCI:C3483 is_a: DOID:1240 ! leukemia [Term] id: DOID:10361 name: eosinophilic meningitis def: "A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch." [url:https\://pubmed.ncbi.nlm.nih.gov/31972289/] subset: NCIthesaurus xref: ICD9CM:322.1 xref: NCI:C128374 xref: SNOMEDCT_US_2023_03_01:25671008 xref: UMLS_CUI:C0154652 is_a: DOID:10341 ! chronic meningitis [Term] id: DOID:10366 name: epididymis cancer def: "A male reproductive organ cancer that is located in the epididymis." [url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3720153/] subset: NCIthesaurus synonym: "malignant Epididymal tumor" EXACT [] synonym: "malignant neoplasm of epididymis" EXACT [] synonym: "malignant tumor of epididymis" EXACT [] xref: ICD10CM:C63.0 xref: ICD9CM:187.5 xref: NCI:C3558 xref: SNOMEDCT_US_2023_03_01:363452003 xref: UMLS_CUI:C0153602 is_a: DOID:0080373 ! epididymis disease is_a: DOID:3856 ! male reproductive organ cancer [Term] id: DOID:10367 name: obsolete metastatic tumor to the epididymis synonym: "metastatic neoplasm to the Epididymis" EXACT [] synonym: "secondary malignant neoplasm of epididymis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10368 name: epididymis adenocarcinoma def: "An epididymis cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of the epididymis" RELATED [] xref: NCI:C39957 xref: UMLS_CUI:C1510784 is_a: DOID:10366 ! epididymis cancer is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:1037 name: lymphoid leukemia alt_id: DOID:10747 def: "A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood." [url:http\://www.cancer.gov/dictionary?CdrID=616067] subset: DO_cancer_slim subset: DO_RAD_slim subset: NCIthesaurus synonym: "lymphoblastic leukaemia" EXACT [] synonym: "lymphoblastic leukemia" EXACT [] synonym: "lymphocytic leukaemia" EXACT [] xref: ICD10CM:C91 xref: ICD9CM:204 xref: ICDO:9820/3 xref: MESH:D007945 xref: NCI:C7539 xref: SNOMEDCT_US_2023_03_01:93170002 xref: UMLS_CUI:C0023448 is_a: DOID:1240 ! leukemia [Term] id: DOID:10371 name: yaws def: "A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions." [url:http\://en.wikipedia.org/wiki/Yaws, url:http\://www.who.int/mediacentre/factsheets/fs316/en/] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus synonym: "Bouba" EXACT [] synonym: "frambesia" EXACT [] synonym: "frambesia tropica" EXACT [] synonym: "frambosie" EXACT [] synonym: "polypapilloma tropicum" EXACT [] synonym: "thymosis" EXACT [] xref: GARD:7913 xref: ICD10CM:A66 xref: ICD9CM:102 xref: MESH:D015001 xref: NCI:C41353 xref: SNOMEDCT_US_2023_03_01:266213004 xref: UMLS_CUI:C0043388 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:10375 name: strabismic amblyopia def: "An amblyopia that is characterized by strabismus or eye misalignment. The brain begins to ignore the eye that is not straight and the vision subsequently drops in that eye." [url:https\://aapos.org/glossary/amblyopia, url:https\://pubmed.ncbi.nlm.nih.gov/25051925/] synonym: "suppression amblyopia" EXACT [] xref: ICD10CM:H53.03 xref: ICD9CM:368.01 xref: MESH:D000550 xref: SNOMEDCT_US_2023_03_01:35600002 xref: UMLS_CUI:C0750903 is_a: DOID:10376 ! amblyopia [Term] id: DOID:10376 name: amblyopia def: "An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward." [url:https\://en.wikipedia.org/wiki/Amblyopia, url:https\://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/amblyopia-lazy-eye] subset: NCIthesaurus synonym: "lazy eye" EXACT [] xref: ICD10CM:H53.00 xref: ICD9CM:368.00 xref: MESH:D000550 xref: NCI:C118764 xref: SNOMEDCT_US_2023_03_01:155145007 xref: UMLS_CUI:C0002418 is_a: DOID:5614 ! eye disease property_value: exactMatch "MESH:D000550" xsd:string [Term] id: DOID:10377 name: refractive amblyopia def: "An amblyopia that is characterized by refractive error in one or both eyes that is not corrected early in childhood resulting in poor development of the visual function in the affected eye(s)." [url:https\://aapos.org/glossary/amblyopia] synonym: "ametropic amblyopia" EXACT [] xref: ICD10CM:H53.02 xref: ICD9CM:368.03 xref: SNOMEDCT_US_2023_03_01:90927000 xref: UMLS_CUI:C0152190 is_a: DOID:10376 ! amblyopia [Term] id: DOID:10378 name: deprivation amblyopia def: "An amblyopia that is characterized by a structural anomaly that impairs vision like a droopy eyelid or an opacity in the eye, such as a cataract or corneal scar." [url:https\://aapos.org/glossary/amblyopia] synonym: "disuse amblyopia" EXACT [] xref: ICD10CM:H53.01 xref: ICD9CM:368.02 xref: SNOMEDCT_US_2023_03_01:193638002 xref: UMLS_CUI:C0152189 is_a: DOID:10376 ! amblyopia [Term] id: DOID:1038 name: obsolete mature T-cell neoplasm is_obsolete: true [Term] id: DOID:10380 name: obsolete precipitate labor alt_id: DOID:10379 alt_id: DOID:14438 synonym: "Precipitate labor, antepartum" EXACT [] synonym: "Precipitate labor, with delivery" EXACT [] is_obsolete: true [Term] id: DOID:10381 name: obsolete staphylococcal meningitis subset: gram-positive_bacterial_infectious_disease synonym: "Staphylococcal meningitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10383 name: amyotrophic neuralgia def: "A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the SEPT9 gene on chromosome 17q25." [url:https\://medlineplus.gov/genetics/condition/hereditary-neuralgic-amyotrophy/] comment: OMIM mapping confirmed by DO. [SN]. synonym: "neuralgic amyotrophy" EXACT [] xref: ICD10CM:G54.5 xref: ICD9CM:353.5 xref: MESH:D020968 xref: MIM:162100 xref: SNOMEDCT_US_2023_03_01:3548001 xref: UMLS_CUI:C1510479 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3690 ! brachial plexus neuropathy [Term] id: DOID:10384 name: obsolete papilledema associated with decreased ocular pressure synonym: "Papilledema associated with decreased ocular pressure (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1039 name: prolymphocytic leukemia def: "A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen." [url:https\://cancer.ca/en/cancer-information/cancer-types/non-hodgkin-lymphoma/what-is-non-hodgkin-lymphoma/prolymphocytic-leukemias] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "PLL" EXACT OMO:0003012 [] synonym: "Prolymphocytic leukaemia" EXACT [] xref: ICDO:9832/3 xref: MESH:D015463 xref: NCI:C3181 xref: SNOMEDCT_US_2023_03_01:110006004 xref: UMLS_CUI:C0023486 is_a: DOID:1040 ! chronic lymphocytic leukemia [Term] id: DOID:10393 name: secondary hypertrophic osteoarthropathy synonym: "Bamberger-Marie disease" EXACT [] synonym: "HPOA - hypertrophic pulmonary osteoarthropathy" EXACT [] synonym: "hypertrophic pulmonary osteoarthropathy" EXACT [] synonym: "Marie Bamberger disease" EXACT [] xref: ICD10CM:M89.4 xref: ICD9CM:731.2 xref: MESH:D010005 xref: SNOMEDCT_US_2023_03_01:46922002 xref: UMLS_CUI:C0029412 is_a: DOID:381 ! arthropathy [Term] id: DOID:10398 name: pneumonic plague alt_id: DOID:10401 alt_id: DOID:10402 def: "A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing." [url:https\://en.wikipedia.org/wiki/Pneumonic_plague] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "primary pneumonic plague" EXACT [] synonym: "secondary pneumonic plague" EXACT [] xref: ICD10CM:A20.2 xref: ICD9CM:020.3 xref: ICD9CM:020.4 xref: ICD9CM:020.5 xref: MESH:D010930 xref: SNOMEDCT_US_2023_03_01:35339003 xref: SNOMEDCT_US_2023_03_01:38976008 xref: SNOMEDCT_US_2023_03_01:67525007 xref: UMLS_CUI:C0152937 xref: UMLS_CUI:C0152938 xref: UMLS_CUI:C0524688 is_a: DOID:3482 ! plague is_a: DOID:850 ! lung disease [Term] id: DOID:10399 name: seminal vesicle chronic gonorrhea subset: DO_infectious_disease_slim synonym: "Gonococcal seminal vesiculitis, chronic" EXACT [] xref: ICD9CM:098.34 xref: SNOMEDCT_US_2023_03_01:23975003 xref: UMLS_CUI:C0153205 is_a: DOID:10400 ! gonococcal seminal vesiculitis [Term] id: DOID:104 name: bacterial infectious disease def: "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria." [url:http\://en.wikipedia.org/wiki/Pathogenic_bacteria] subset: DO_AGR_slim subset: DO_FlyBase_slim subset: DO_infectious_disease_slim subset: NCIthesaurus xref: ICD10CM:A49.9 xref: MESH:D001424 xref: NCI:C2890 xref: SNOMEDCT_US_2023_03_01:87628006 xref: UMLS_CUI:C0004623 is_a: DOID:0050117 ! disease by infectious agent [Term] id: DOID:1040 name: chronic lymphocytic leukemia def: "A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood." [url:http\://en.wikipedia.org/wiki/B-cell_chronic_lymphocytic_leukemia, url:http\://www.cancer.gov/dictionary?cdrid=346545] comment: Xref MGI. subset: DO_cancer_slim subset: DO_RAD_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "B-cell chronic lymphocytic leukaemia" EXACT [] synonym: "B-cell chronic lymphocytic leukemia" EXACT [] synonym: "B-cell chronic lymphoid leukemia" RELATED [] synonym: "chronic lymphatic leukaemia" EXACT [] synonym: "chronic lymphatic leukemia" EXACT [] synonym: "chronic lymphocytic leukaemia" EXACT [] synonym: "CLL" EXACT OMO:0003012 [] synonym: "lymphoplasmacytic leukaemia" EXACT [] synonym: "lymphoplasmacytic leukemia" EXACT [] xref: EFO:0000095 xref: GARD:6104 xref: ICD10CM:C91.10 xref: ICD9CM:204.1 xref: MESH:D015451 xref: MIM:109543 xref: MIM:151400 xref: MIM:609630 xref: MIM:612557 xref: MIM:612558 xref: MIM:612559 xref: NCI:C3163 xref: ORDO:67038 xref: SNOMEDCT_US_2023_03_01:51092000 xref: UMLS_CUI:C0023434 is_a: DOID:0060058 ! lymphoma is_a: DOID:1037 ! lymphoid leukemia [Term] id: DOID:10400 name: gonococcal seminal vesiculitis subset: DO_infectious_disease_slim synonym: "Gonorrhea of seminal vesicle" EXACT [] xref: SNOMEDCT_US_2023_03_01:301990003 xref: UMLS_CUI:C0578661 is_a: DOID:7551 ! gonorrhea is_a: DOID:9365 ! vesiculitis [Term] id: DOID:1042 name: obsolete Generalized infection during labor alt_id: DOID:10262 alt_id: DOID:1041 synonym: "antepartum generalized infection during labor" EXACT [] synonym: "Generalized infection during labor, delivered" EXACT [] is_obsolete: true [Term] id: DOID:10423 name: acute pericementitis subset: NCIthesaurus synonym: "acute periodontitis" EXACT [] xref: ICD9CM:523.33 xref: NCI:C34354 xref: SNOMEDCT_US_2023_03_01:155646007 xref: UMLS_CUI:C0001342 is_a: DOID:824 ! periodontitis [Term] id: DOID:10426 name: Klippel-Feil syndrome alt_id: DOID:14747 def: "A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra." [url:http\://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome, url:http\://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm, url:http\://www.wheelessonline.com/ortho/klippel_feil_syndrome] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "autosomal dominant Klippel-Feil syndrome" EXACT [] synonym: "congenital dystrophia brevicollis" EXACT [] synonym: "congenital synostosis of cervical vertebrae" EXACT [] synonym: "Klippel-Feil and Turner syndrome" EXACT [] synonym: "Klippel-Feil deformity, deafness and facial asymmetry" EXACT [] xref: GARD:10280 xref: ICD10CM:Q76.1 xref: ICD9CM:756.16 xref: MESH:D007714 xref: MIM:PS118100 xref: NCI:C98967 xref: ORDO:2345 xref: SNOMEDCT_US_2023_03_01:268349005 xref: UMLS_CUI:C0022738 is_a: DOID:0060564 ! spinal disease is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome [Term] id: DOID:10428 name: stable condition keratoconus synonym: "Keratoconus, stable condition" EXACT [] xref: ICD10CM:H18.61 xref: ICD9CM:371.61 xref: SNOMEDCT_US_2023_03_01:193844000 xref: UMLS_CUI:C0155131 is_a: DOID:10126 ! keratoconus [Term] id: DOID:10435 name: purulent acute otitis media def: "A suppurative otitis media with sudden onset and a short course." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false] xref: ICD9CM:382.02 xref: UMLS_CUI:C0155439 is_a: DOID:11506 ! suppurative otitis media [Term] id: DOID:10437 name: obsolete metastasis to lymph node is_obsolete: true [Term] id: DOID:10439 name: Mooren's ulcer def: "A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema." [url:https\://eyewiki.aao.org/Mooren%27s_Ulcer] synonym: "Mooren ulcer" EXACT [] xref: ICD10CM:H16.05 xref: ICD9CM:370.07 xref: SNOMEDCT_US_2023_03_01:22440001 xref: UMLS_CUI:C0155072 is_a: DOID:8463 ! corneal ulcer [Term] id: DOID:1044 name: obsolete nontraumatic rupture of muscle synonym: "Non-traumatic muscle tear" EXACT [] synonym: "Nontraumatic rupture of muscle (disorder)" EXACT [] synonym: "Rupture of muscle, nontraumatic" EXACT [] is_obsolete: true [Term] id: DOID:10440 name: mycotic corneal ulcer def: "A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, aspergillus, fusarium, and rhizopus." [url:https\://eyewiki.aao.org/Fungal_Keratitis] xref: ICD10CM:H16.06 xref: ICD9CM:370.05 xref: SNOMEDCT_US_2023_03_01:59939007 xref: UMLS_CUI:C0155071 is_a: DOID:8463 ! corneal ulcer [Term] id: DOID:10441 name: marginal corneal ulcer def: "A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus." [url:https\://www.reviewofoptometry.com/article/is-it-an-ulcer-or-an-infiltrate] xref: ICD10CM:H16.04 xref: ICD9CM:370.01 xref: SNOMEDCT_US_2023_03_01:47398006 xref: UMLS_CUI:C0155067 is_a: DOID:8463 ! corneal ulcer [Term] id: DOID:10442 name: hypopyon ulcer xref: ICD10CM:H16.03 xref: ICD9CM:370.04 xref: SNOMEDCT_US_2023_03_01:193762002 xref: UMLS_CUI:C0155070 is_a: DOID:10443 ! hypopyon [Term] id: DOID:10443 name: hypopyon subset: NCIthesaurus xref: ICD10CM:H20.05 xref: ICD9CM:364.05 xref: NCI:C50593 xref: SNOMEDCT_US_2023_03_01:87807004 xref: UMLS_CUI:C0020641 is_a: DOID:9383 ! iridocyclitis [Term] id: DOID:10444 name: ring corneal ulcer def: "A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16693254] xref: ICD10CM:H16.02 xref: ICD9CM:370.02 xref: SNOMEDCT_US_2023_03_01:193760005 xref: UMLS_CUI:C0155068 is_a: DOID:8463 ! corneal ulcer [Term] id: DOID:10445 name: perforated corneal ulcer def: "A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment." [url:https\://www.aao.org/eyenet/article/corneal-perforations] xref: ICD10CM:H16.07 xref: ICD9CM:370.06 xref: SNOMEDCT_US_2023_03_01:46606001 xref: UMLS_CUI:C0151844 is_a: DOID:8463 ! corneal ulcer [Term] id: DOID:10447 name: obsolete thyroid dysfunction complicating pregnancy, childbirth, or the puerperium alt_id: DOID:10446 alt_id: DOID:14076 alt_id: DOID:14077 synonym: "antepartum thyroid dysfunction" EXACT [] synonym: "postpartum thyroid dysfunction" EXACT [] synonym: "Thyroid dysfunction of mother, with delivery" EXACT [] is_obsolete: true [Term] id: DOID:1045 name: obsolete fascia disease is_obsolete: true [Term] id: DOID:10456 name: tonsillitis alt_id: DOID:10454 alt_id: DOID:13751 def: "An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills." [url:http\://en.wikipedia.org/wiki/Tonsillitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tonsillitis] subset: NCIthesaurus synonym: "chronic tonsillitis" EXACT [] synonym: "Throat infection - tonsillitis" EXACT [] xref: ICD10CM:J35.01 xref: ICD9CM:474.00 xref: MESH:D014069 xref: NCI:C116006 xref: SNOMEDCT_US_2023_03_01:195665006 xref: SNOMEDCT_US_2023_03_01:195794009 xref: UMLS_CUI:C0040425 xref: UMLS_CUI:C0149517 is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:10457 name: Legionnaires' disease def: "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough." [url:http\://en.wikipedia.org/wiki/Legionellosis] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus synonym: "Infection by Legionella pneumophilia" EXACT [] synonym: "Legionella" EXACT [] synonym: "Legionella pneumonia" EXACT [] synonym: "Legionnaire's disease" EXACT [] xref: ICD10CM:A48.1 xref: ICD9CM:482.84 xref: MESH:D007877 xref: NCI:C128339 xref: SNOMEDCT_US_2023_03_01:195889001 xref: UMLS_CUI:C0023241 is_a: DOID:10458 ! legionellosis [Term] id: DOID:10458 name: legionellosis def: "A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea." [url:http\://en.wikipedia.org/wiki/Legionellosis, url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus synonym: "Legionella infection" EXACT [] xref: MESH:D007876 xref: NCI:C128334 xref: SNOMEDCT_US_2023_03_01:26726000 xref: UMLS_CUI:C0023240 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:10459 name: common cold def: "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=common%20cold, url:https\://medlineplus.gov/commoncold.html] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "acute coryza" EXACT [] synonym: "acute nasopharyngitis" EXACT [] synonym: "acute rhinitis" EXACT [] synonym: "Acute viral rhinopharyngitis" EXACT [] synonym: "Nasopharyngitis - acute" EXACT [] synonym: "Nasopharyngitis, acute" EXACT [] synonym: "rhino-sinusitis" EXACT [] xref: ICD10CM:J00 xref: ICD9CM:460 xref: MESH:D003139 xref: NCI:C34500 xref: SNOMEDCT_US_2023_03_01:195648002 xref: UMLS_CUI:C0009443 is_a: DOID:934 ! viral infectious disease is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:10460 name: nasopharyngitis alt_id: DOID:11587 def: "A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx." [url:http\://medical-dictionary.thefreedictionary.com/nasopharyngitis, url:http\://www.merriam-webster.com/medical/nasopharyngitis] subset: NCIthesaurus synonym: "chronic nasopharyngitis" EXACT [] xref: ICD10CM:J00 xref: ICD10CM:J31.1 xref: ICD9CM:472.2 xref: MESH:D009304 xref: NCI:C34837 xref: SNOMEDCT_US_2023_03_01:155524006 xref: SNOMEDCT_US_2023_03_01:51476001 xref: UMLS_CUI:C0027441 xref: UMLS_CUI:C0155826 is_a: DOID:9561 ! nasopharyngeal disease [Term] id: DOID:10461 name: dentin caries synonym: "Compound dental caries" EXACT [] synonym: "Dental caries extending into dentine" EXACT [] xref: ICD10CM:K02 xref: ICD9CM:521.02 xref: SNOMEDCT_US_2023_03_01:442551007 xref: UMLS_CUI:C0266846 is_a: DOID:216 ! dental caries [Term] id: DOID:10469 name: obsolete diabetes mellitus juvenile type, uncontrolled, with neurological manifestations synonym: "Diabetes mellitus type I [juvenile type], uncontrolled, with neurological manifestations" EXACT [] is_obsolete: true [Term] id: DOID:1047 name: obsolete Mental disorder complicating pregnancy, childbirth, or the puerperium alt_id: DOID:1046 alt_id: DOID:10663 alt_id: DOID:10664 alt_id: DOID:10665 alt_id: DOID:12734 alt_id: DOID:14128 alt_id: DOID:9701 synonym: "Mental disorder of mother, antepartum" EXACT [] synonym: "Mental disorder of mother, with delivery" EXACT [] synonym: "peripheral neuritis antepartum" EXACT [] synonym: "peripheral neuritis in pregnancy, with delivery" EXACT [] synonym: "peripheral neuritis postpartum" EXACT [] synonym: "postpartum edema or excessive weight gain" EXACT [] synonym: "postpartum mental disorder of mother" EXACT [] is_obsolete: true [Term] id: DOID:10471 name: patellar tendinitis synonym: "Patellar tendonitis" EXACT [] xref: ICD10CM:M76.5 xref: ICD9CM:726.64 xref: SNOMEDCT_US_2023_03_01:156662006 xref: UMLS_CUI:C0158317 is_a: DOID:971 ! tendinitis [Term] id: DOID:10472 name: obsolete candidal pneumonia def: "A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain." [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/] synonym: "Candidiasis of lung" EXACT [] is_obsolete: true [Term] id: DOID:10473 name: obsolete wrist or carpus enthesopathy synonym: "Enthesopathy of the wrist and carpus (disorder)" EXACT [] synonym: "Enthesopathy of wrist and carpus" EXACT [] synonym: "Enthesopathy of wrist and/or carpus (disorder)" EXACT [] synonym: "Wrist or carpus enthesopathy NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10480 name: diaphragmatic eventration subset: NCIthesaurus xref: ICD10CM:Q79.1 xref: MESH:D003965 xref: NCI:C98912 xref: SNOMEDCT_US_2023_03_01:34168003 xref: UMLS_CUI:C0011981 is_a: DOID:10481 ! diaphragm disease [Term] id: DOID:10481 name: diaphragm disease def: "A muscular disease that is located_in the diaphragm." [url:http\://www.bmc.org/thoracicsurgery/diseasesandconditions-diaphragm.htm] xref: ICD10CM:J98.6 xref: ICD9CM:519.4 xref: SNOMEDCT_US_2023_03_01:48475001 xref: UMLS_CUI:C0152097 is_a: DOID:0080000 ! muscular disease [Term] id: DOID:10483 name: obsolete hypertonic, incoordinate, or prolonged uterine contractions alt_id: DOID:10482 alt_id: DOID:11860 is_obsolete: true [Term] id: DOID:10485 name: esophageal atresia subset: DO_rare_slim subset: NCIthesaurus synonym: "Congenital atresia of esophagus" EXACT [] synonym: "Congenital imperforate esophagus" EXACT [] synonym: "Imperforate esophagus" EXACT [] synonym: "Oesophageal atresia" EXACT [] xref: GARD:6381 xref: ICD10CM:Q39.0 xref: MESH:D004933 xref: NCI:C87072 xref: SNOMEDCT_US_2023_03_01:156947007 xref: UMLS_CUI:C0014850 is_a: DOID:6050 ! esophageal disease [Term] id: DOID:10486 name: intestinal atresia subset: NCIthesaurus xref: ICD10CM:Q41.1 xref: MESH:D007409 xref: NCI:C84790 xref: UMLS_CUI:C0021828 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:10487 name: Hirschsprung's disease def: "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel." [url:http\://en.wikipedia.org/wiki/Hirschsprung%27s_disease, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001140.htm, url:http\://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "aganglionic megacolon" EXACT [] synonym: "congenital megacolon" EXACT [] synonym: "Hirschsprung disease" EXACT [] synonym: "macrocolon" EXACT [] synonym: "pelvirectal achalasia" EXACT [] synonym: "total intestinal aganglionosis" EXACT [] xref: GARD:6660 xref: ICD10CM:Q43.1 xref: MESH:D006627 xref: MIM:600156 xref: MIM:606874 xref: MIM:606875 xref: MIM:608462 xref: MIM:611644 xref: NCI:C34700 xref: ORDO:388 xref: SNOMEDCT_US_2023_03_01:204739008 xref: UMLS_CUI:C0019569 is_a: DOID:11372 ! megacolon [Term] id: DOID:10488 name: imperforate anus comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "anal atresia" EXACT [] synonym: "Congenital atresia of anus" EXACT [] synonym: "Congenital or infantile occlusion of anus" EXACT [] xref: GARD:6769 xref: ICD10CM:Q42.3 xref: MESH:D001006 xref: MIM:207500 xref: MIM:301800 xref: NCI:C84784 xref: SNOMEDCT_US_2023_03_01:156956004 xref: UMLS_CUI:C0003466 is_a: DOID:0080015 ! physical disorder is_a: DOID:3128 ! anus disease [Term] id: DOID:10489 name: obsolete transient disorder of initiating or maintaining wakefulness is_obsolete: true [Term] id: DOID:10493 name: adrenal cortical hypofunction subset: NCIthesaurus synonym: "Adrenal Cortical Insufficiency" EXACT [] synonym: "Corticoadrenal insufficiency" EXACT [] xref: ICD9CM:255.4 xref: NCI:C26691 xref: SNOMEDCT_US_2023_03_01:68588005 xref: UMLS_CUI:C0405580 is_a: DOID:3952 ! adrenal cortex disease [Term] id: DOID:10494 name: obsolete pulmonary valve syphilitic endocarditis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilitic endocarditis of pulmonary valve (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10499 name: orbital granuloma subset: NCIthesaurus xref: ICD10CM:H05.11 xref: ICD9CM:376.11 xref: NCI:C3653 xref: SNOMEDCT_US_2023_03_01:194008000 xref: UMLS_CUI:C0155262 is_a: DOID:1397 ! chronic orbital inflammation [Term] id: DOID:10501 name: obsolete menopausal and postmenopausal disorder is_obsolete: true [Term] id: DOID:10505 name: obsolete generalized nonconvulsive epilepsy disease alt_id: DOID:10504 synonym: "generalized nonconvulsive epilepsy with intractable epilepsy" EXACT [] is_obsolete: true [Term] id: DOID:10507 name: Dressler's syndrome def: "A pericarditis characterized by inflammation, occurring after injury, located_in pericardium." [url:http\://en.wikipedia.org/wiki/Dressler%27s_syndrome, url:http\://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307] synonym: "Dressler syndrome" EXACT [] synonym: "Postmyocardial infarction syndrome" EXACT [] xref: ICD10CM:I24.1 xref: ICD9CM:411.0 xref: SNOMEDCT_US_2023_03_01:66189004 xref: UMLS_CUI:C0152107 is_a: DOID:1787 ! pericarditis [Term] id: DOID:10508 name: obsolete Bacillus anthracis pneumonia def: "A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis." [url:http\://www.cdc.gov/ncidod/EID/vol7no6/jernigan.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/8460135] subset: gram-positive_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Anthrax pneumonia (disorder)" EXACT [] synonym: "Pneumonia in anthrax" EXACT [] synonym: "Woolsorters' pneumonia" EXACT [] is_obsolete: true [Term] id: DOID:10510 name: obsolete influenza virus pneumonia def: "A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills." [url:http\://en.wikipedia.org/wiki/Pneumonia] synonym: "influenza pneumonia" EXACT [] synonym: "influenzal pneumonia" EXACT [] is_obsolete: true [Term] id: DOID:10516 name: malignant otitis externa def: "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes." [url:http\://www.merck.com/mmhe/sec19/ch219/ch219c.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000672.htm] xref: ICD10CM:H60.2 xref: ICD9CM:380.14 xref: SNOMEDCT_US_2023_03_01:194206006 xref: UMLS_CUI:C0155395 is_a: DOID:9463 ! otitis externa [Term] id: DOID:10518 name: beach ear def: "An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds." [url:http\://en.wikipedia.org/wiki/Otitis_externa, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000622.htm] synonym: "acute bacterial inflammation of external ear" EXACT [] synonym: "acute otitis externa, diffuse" EXACT [] synonym: "acute swimmer's ear" EXACT [] synonym: "acute swimmers' ear" EXACT [] synonym: "Tank ear" EXACT [] xref: ICD9CM:380.12 xref: SNOMEDCT_US_2023_03_01:39149004 xref: UMLS_CUI:C3831782 is_a: DOID:9463 ! otitis externa [Term] id: DOID:10519 name: chronic fungal otitis externa def: "A otomycosis which is persistent and long-lasting or recurrent." [url:http\://www.scielo.br/pdf/bjorl/v75n3/v75n3a10.pdf] subset: DO_infectious_disease_slim synonym: "chronic mycotic otitis externa" EXACT [] xref: ICD9CM:380.15 xref: SNOMEDCT_US_2023_03_01:111898002 xref: UMLS_CUI:C0155396 is_a: DOID:0050147 ! otomycosis is_a: DOID:1564 ! fungal infectious disease [Term] id: DOID:10520 name: acute infection of pinna def: "An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species." [url:http\://books.google.com/books?id=kggm5ighzbUC&pg=PA462&lpg#v=onepage&q=&f=false] xref: ICD9CM:380.11 xref: SNOMEDCT_US_2023_03_01:56663002 xref: UMLS_CUI:C0155392 is_a: DOID:9463 ! otitis externa [Term] id: DOID:10521 name: obsolete pinna disease synonym: "disorder of pinna (disorder)" EXACT [] synonym: "disorder of pinna, unspecified" EXACT [] synonym: "Unspecified disorder of pinna (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10525 name: double pterygium def: "A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple heads or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Double pterygiums progress from pinguecula." [url:https\://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5598180/] xref: ICD9CM:372.44 xref: SNOMEDCT_US_2023_03_01:193883003 xref: UMLS_CUI:C0155157 is_a: DOID:0002116 ! pterygium [Term] id: DOID:10526 name: conjunctival pterygium def: "A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula." [url:https\://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/] synonym: "Web eye" EXACT [] is_a: DOID:0002116 ! pterygium is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:10527 name: obsolete Haemophilus influenzae pneumonia def: "A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1788861/pdf/brmedj02208-0016.pdf] subset: gram-negative_bacterial_infectious_disease synonym: "Haemophilus influenzae pneumonia (disorder)" EXACT [] synonym: "Pneumonia due to H. influenzae" EXACT [] synonym: "pneumonia due to hemophilus influenzae" EXACT [] synonym: "Pneumonia due to Hemophilus influenzae [H. influenzae]" EXACT [] is_obsolete: true [Term] id: DOID:10528 name: obsolete Haemophilus influenzae infectious disease subset: gram-negative_bacterial_infectious_disease synonym: "Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters" EXACT [] synonym: "Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters (disorder)" EXACT [] synonym: "Haemophilus influenzae infection (disorder)" EXACT [] synonym: "Haemophilus influenzae infection, unspecified (disorder)" EXACT [] synonym: "HEMOPHILUS INFLUENZA INFECTION" EXACT [] synonym: "Hemophilus Influenza Infection" EXACT [] is_obsolete: true [Term] id: DOID:10529 name: obsolete primary Haemophilus infectious disease subset: gram-negative_bacterial_infectious_disease synonym: "Haemophilus infection (disorder)" EXACT [] synonym: "Hemophilus Infection" EXACT [] is_obsolete: true [Term] id: DOID:1053 name: obsolete developmental dislocation of joint alt_id: DOID:1052 alt_id: DOID:11114 alt_id: DOID:11311 alt_id: DOID:12032 alt_id: DOID:12370 alt_id: DOID:13332 alt_id: DOID:13797 alt_id: DOID:1710 synonym: "Developmental dislocation of ankle and foot joint" EXACT [] synonym: "Developmental dislocation of forearm joint" EXACT [] synonym: "Developmental dislocation of hand joint" EXACT [] synonym: "Developmental dislocation of joint of multiple sites" EXACT [] synonym: "Developmental dislocation of joint of pelvic region and thigh" EXACT [] synonym: "Developmental dislocation of joint of shoulder region" EXACT [] synonym: "Developmental dislocation of lower leg joint" EXACT [] synonym: "Developmental dislocation of upper arm joint" EXACT [] is_obsolete: true [Term] id: DOID:10531 name: obsolete pneumococcal pneumonia def: "A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting." [url:http\://www.cdc.gov/vaccines/vpd-vac/pneumo/dis-faqs.htm] subset: gram-positive_bacterial_infectious_disease synonym: "Chest infection - pneumococcal pneumonia" EXACT [] synonym: "Lobar -pneumococcal -pneumonia" EXACT [] synonym: "Lobar pneumonia (disorder)" EXACT [] synonym: "Pneumococcal lobar pneumonia (disorder)" EXACT [] synonym: "Pneumococcal pneumonia (disorder)" EXACT [] synonym: "Pneumococcal pneumonia (disorder) [Ambiguous]" EXACT [] synonym: "Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia]" EXACT [] synonym: "Streptococcus pneumoniae pneumonia" EXACT [] is_obsolete: true [Term] id: DOID:10532 name: obsolete streptococcal pneumonia def: "A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias." [url:http\://en.wikipedia.org/wiki/Streptococcus] subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:10533 name: viral pneumonia alt_id: DOID:13167 def: "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." [url:http\://en.wikipedia.org/wiki/Pneumonia] subset: DO_infectious_disease_slim xref: ICD10CM:J12.9 xref: ICD9CM:480 xref: MESH:D011024 xref: SNOMEDCT_US_2023_03_01:195880002 xref: UMLS_CUI:C0032310 is_a: DOID:552 ! pneumonia is_a: DOID:934 ! viral infectious disease [Term] id: DOID:10534 name: stomach cancer alt_id: DOID:10539 alt_id: DOID:10542 alt_id: DOID:10543 alt_id: DOID:4713 def: "A gastrointestinal system cancer that is located_in the stomach." [url:http\://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer, url:http\://en.wikipedia.org/wiki/Stomach] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_CFDE_slim subset: DO_FlyBase_slim subset: DO_RAD_slim subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "gastric cancer" EXACT [] synonym: "gastric neoplasm" EXACT [] xref: GARD:7704 xref: ICD10CM:C16 xref: ICD10CM:C16.2 xref: ICD10CM:C16.5 xref: ICD10CM:C16.6 xref: ICD9CM:151 xref: ICD9CM:151.4 xref: ICD9CM:151.5 xref: ICD9CM:151.6 xref: MESH:D013274 xref: MIM:613659 xref: NCI:C3387 xref: NCI:C9331 xref: SNOMEDCT_US_2023_03_01:126824007 xref: SNOMEDCT_US_2023_03_01:269459004 xref: SNOMEDCT_US_2023_03_01:269460009 xref: SNOMEDCT_US_2023_03_01:93717002 xref: SNOMEDCT_US_2023_03_01:94074003 xref: UMLS_CUI:C0024623 xref: UMLS_CUI:C0038356 xref: UMLS_CUI:C0153421 xref: UMLS_CUI:C0153422 xref: UMLS_CUI:C0153423 is_a: DOID:3119 ! gastrointestinal system cancer is_a: DOID:76 ! stomach disease [Term] id: DOID:10535 name: obsolete coxsackie myocarditis def: "A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart." [url:http\://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_] is_obsolete: true [Term] id: DOID:10536 name: malignant gastric granular cell tumor subset: NCIthesaurus synonym: "malignant gastric granular cell tumour" EXACT [] synonym: "malignant granular cell tumor of stomach" EXACT [] synonym: "malignant granular cell tumour of stomach" EXACT [] xref: NCI:C5484 xref: UMLS_CUI:C1334585 is_a: DOID:10534 ! stomach cancer [Term] id: DOID:10537 name: obsolete recurrent malignant gastric neoplasm is_obsolete: true [Term] id: DOID:10538 name: gastric fundus cancer def: "A stomach cancer that is located_in the gastric fundus." [url:https\://www.cancer.org/cancer/stomach-cancer/about/what-is-stomach-cancer.html] synonym: "Ca fundus - stomach" EXACT [] synonym: "malignant neoplasm of fundus of stomach" EXACT [] synonym: "malignant tumor of fundus of stomach" EXACT [] xref: ICD10CM:C16.1 xref: ICD9CM:151.3 xref: SNOMEDCT_US_2023_03_01:93809003 xref: UMLS_CUI:C0153420 is_a: DOID:10534 ! stomach cancer [Term] id: DOID:1054 name: obsolete glaucoma associated with chamber angle anomalies synonym: "Glaucoma associated with chamber angle anomalies (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10540 name: gastric lymphoma subset: DO_rare_slim subset: NCIthesaurus synonym: "Lymphoma of the stomach" EXACT [] xref: GARD:6485 xref: NCI:C4636 xref: SNOMEDCT_US_2023_03_01:276811008 xref: UMLS_CUI:C0349532 is_a: DOID:0060058 ! lymphoma is_a: DOID:10534 ! stomach cancer [Term] id: DOID:10541 name: microinvasive gastric cancer subset: NCIthesaurus synonym: "early gastric cancer" EXACT [] synonym: "Surface gastric cancer" EXACT [] xref: NCI:C27131 xref: SNOMEDCT_US_2023_03_01:276809004 xref: UMLS_CUI:C0349530 is_a: DOID:3717 ! gastric adenocarcinoma [Term] id: DOID:10544 name: pylorus cancer subset: NCIthesaurus synonym: "Ca pylorus - stomach" EXACT [] synonym: "malignant neoplasm of Prepylorus" EXACT [] synonym: "malignant neoplasm of pylorus of stomach" EXACT [] synonym: "malignant tumor of pylorus" EXACT [] xref: ICD10CM:C16.4 xref: ICD9CM:151.1 xref: NCI:C188051 xref: SNOMEDCT_US_2023_03_01:187736009 xref: UMLS_CUI:C0153418 is_a: DOID:10534 ! stomach cancer [Term] id: DOID:10545 name: obsolete coxsackievirus infectious disease alt_id: DOID:10546 def: "An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue." [url:http\://en.wikipedia.org/wiki/Coxsackievirus] is_obsolete: true [Term] id: DOID:10547 name: pyloric antrum cancer synonym: "malignant neoplasm of antrum of stomach" EXACT [] synonym: "malignant tumor of pyloric antrum" EXACT [] xref: ICD10CM:C16.3 xref: ICD9CM:151.2 xref: SNOMEDCT_US_2023_03_01:93976007 xref: UMLS_CUI:C0153419 is_a: DOID:10544 ! pylorus cancer [Term] id: DOID:10548 name: cardia cancer def: "A cancer located_in the gastric cardia." [url:https\://pubmed.ncbi.nlm.nih.gov/33758614] synonym: "Ca cardia - stomach" EXACT [] synonym: "malignant neoplasm of cardia of stomach" EXACT [] xref: ICD10CM:C16.0 xref: ICD9CM:151.0 xref: SNOMEDCT_US_2023_03_01:187732006 xref: UMLS_CUI:C0153417 is_a: DOID:10534 ! stomach cancer [Term] id: DOID:10549 name: obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations synonym: "Diabetes mellitus juvenile type, not stated as uncontrolled, with ophthalmic manifestations" EXACT [] synonym: "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with ophthalmic manifestations" EXACT [] is_obsolete: true [Term] id: DOID:1055 name: obsolete glaucoma associated with congenital anomalies, dystrophies and systemic syndromes synonym: "Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes" EXACT [] is_obsolete: true [Term] id: DOID:10550 name: acute eustachian salpingitis def: "A otosalpingitis with a sudden onset and a short course." [url:http\://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false] synonym: "acute eustachian tube salpingitis" EXACT [] xref: ICD10CM:H68.01 xref: ICD9CM:381.51 xref: SNOMEDCT_US_2023_03_01:194268005 xref: UMLS_CUI:C0155429 is_a: DOID:2000 ! otosalpingitis [Term] id: DOID:10551 name: obsolete cerebral toxoplasmosis def: "A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures." [url:http\://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh] synonym: "Encephalitis due to acquired toxoplasmosis" EXACT [] synonym: "Meningoencephalitis due to acquired toxoplasmosis (disorder)" EXACT [] synonym: "Meningoencephalitis due to toxoplasmosis" EXACT [] synonym: "Toxoplasma encephalitis" EXACT [] synonym: "Toxoplasma encephalitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10554 name: meningoencephalitis def: "A central nervous system disease that involves encephalitis which occurs along with meningitis." [url:http\://en.wikipedia.org/wiki/Encephalitis] subset: NCIthesaurus xref: ICD10CM:A69.22 xref: MESH:D008590 xref: NCI:C34813 xref: SNOMEDCT_US_2023_03_01:7125002 xref: UMLS_CUI:C0025309 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:10556 name: supine hypotensive syndrome alt_id: DOID:10555 alt_id: DOID:12413 def: "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22537582, url:https\://www.ncbi.nlm.nih.gov/pubmed/8164943] synonym: "antepartum maternal hypotension syndrome" EXACT [] synonym: "postpartum maternal hypotension syndrome" EXACT [] xref: ICD9CM:669.20 xref: UMLS_CUI:C0157456 is_a: DOID:178 ! vascular disease [Term] id: DOID:10557 name: obsolete maternal distress is_obsolete: true [Term] id: DOID:1056 name: oculocerebrorenal syndrome def: "A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney." [url:https\://ghr.nlm.nih.gov/condition/lowe-syndrome, url:https\://www.omim.org/entry/309000] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "lowe oculocerebrorenal syndrome" EXACT [] synonym: "Lowe syndrome" EXACT [] synonym: "oculocerebrorenal syndrome of Lowe" EXACT [] xref: GARD:3295 xref: ICD10CM:E72.03 xref: MEDDRA:10051707 xref: MESH:D009800 xref: MIM:309000 xref: NCI:C84940 xref: ORDO:534 xref: SNOMEDCT_US_2023_03_01:79385002 xref: UMLS_CUI:C0028860 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:10561 name: obsolete yaws hyperkeratosis subset: gram-negative_bacterial_infectious_disease synonym: "hyperkeratosis due to yaws" EXACT [] synonym: "hyperkeratosis of yaws (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10564 name: obsolete gangosa of yaws def: "A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue." [url:http\://en.wikipedia.org/wiki/Yaws] subset: gram-negative_bacterial_infectious_disease synonym: "Gangosa" EXACT [] synonym: "Gangosa of yaws (disorder)" EXACT [] synonym: "Rhinopharyngitis mutilans" EXACT [] is_obsolete: true [Term] id: DOID:10567 name: late yaws alt_id: DOID:10370 alt_id: DOID:10562 def: "A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis." [url:https\://www.who.int/neglected_diseases/diseases/yaws/en/] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus synonym: "Gummata and ulcers due to yaws" EXACT [] synonym: "Gummata of yaws" EXACT [] synonym: "gummatous frambeside" EXACT [] synonym: "multiple papillomata due to yaws and wet crab yaws" EXACT [] synonym: "nodular late yaws" EXACT [] synonym: "Ulcers of yaws" EXACT [] synonym: "Yaws gummata and ulcers" EXACT [] xref: ICD10CM:A66.1 xref: ICD10CM:A66.4 xref: ICD9CM:102.1 xref: ICD9CM:102.4 xref: NCI:C41354 xref: SNOMEDCT_US_2023_03_01:186968004 xref: UMLS_CUI:C0153234 xref: UMLS_CUI:C0276007 xref: UMLS_CUI:C1517744 is_a: DOID:10371 ! yaws [Term] id: DOID:10568 name: early yaws alt_id: DOID:10563 alt_id: DOID:10565 def: "A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur." [url:http\://www.who.int/mediacentre/factsheets/fs316/en/] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus synonym: "bone and joint lesions due to yaws" EXACT [] synonym: "bone and joint yaws lesion" EXACT [] synonym: "chancre of yaws" EXACT [] synonym: "Frambesia, initial or primary" EXACT [] synonym: "Initial frambesial ulcer" EXACT [] synonym: "Initial lesions of yaws" EXACT [] synonym: "primary frambesia" EXACT [] xref: ICD10CM:A66.0 xref: ICD10CM:A66.6 xref: ICD9CM:102.0 xref: ICD9CM:102.6 xref: NCI:C41352 xref: SNOMEDCT_US_2023_03_01:23191004 xref: SNOMEDCT_US_2023_03_01:266147005 xref: SNOMEDCT_US_2023_03_01:49442000 xref: UMLS_CUI:C0275990 xref: UMLS_CUI:C0275998 xref: UMLS_CUI:C0343834 is_a: DOID:10371 ! yaws [Term] id: DOID:10569 name: obsolete myopathy of critical illness synonym: "Critical illness myopathy" EXACT [] is_obsolete: true [Term] id: DOID:1057 name: obsolete inborn amino acid transport disorder is_obsolete: true [Term] id: DOID:10573 name: osteomalacia def: "A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone." [url:http\://en.wikipedia.org/wiki/Osteomalacia, url:http\://my.clevelandclinic.org/disorders/osteomalacia/hic_osteomalacia.aspx, url:http\://www.mayoclinic.com/health/osteomalacia/DS00935, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000376.htm, url:http\://www.wheelessonline.com/ortho/osteomalacia] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7285 xref: ICD9CM:268.2 xref: NCI:C26838 xref: SNOMEDCT_US_2023_03_01:190639009 xref: UMLS_CUI:C0029442 is_a: DOID:0080005 ! bone remodeling disease property_value: exactMatch "MESH:D010018" xsd:string [Term] id: DOID:10574 name: obsolete vitamin D deficiency synonym: "Avitaminosis D" EXACT [] synonym: "Avitaminosis D NOS (disorder)" EXACT [] synonym: "deficiency of vitamin D (disorder)" EXACT [] synonym: "Unspecified vitamin D deficiency" EXACT [] synonym: "vitamin D deficiency" EXACT [] synonym: "vitamin D deficiency (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10575 name: calcium metabolism disease xref: ICD10CM:E83.5 xref: ICD9CM:275.4 xref: MESH:D002128 xref: SNOMEDCT_US_2023_03_01:267442002 xref: UMLS_CUI:C0006705 is_a: DOID:0050032 ! mineral metabolism disease [Term] id: DOID:10579 name: leukodystrophy def: "A cerebral degeneration characterized by dysfunction of the white matter of the brain." [url:http\://en.wikipedia.org/wiki/Leukodystrophy] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6895 xref: ICD9CM:330.0 xref: NCI:C61253 xref: SNOMEDCT_US_2023_03_01:5101009 xref: UMLS_CUI:C0023520 is_a: DOID:1443 ! cerebral degeneration [Term] id: DOID:1058 name: obsolete amino acid transport disease synonym: "Disturbances of amino-acid transport" EXACT [] is_obsolete: true [Term] id: DOID:10581 name: metachromatic leukodystrophy def: "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system." [url:http\://en.wikipedia.org/wiki/Metachromatic_leukodystrophy, url:http\://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "arylsulfatase A deficiency" EXACT [] synonym: "deficiency of cerebroside-sulfatase" EXACT [] synonym: "MLD" EXACT OMO:0003012 [] synonym: "Scholz cerebral sclerosis" EXACT [] synonym: "sulfatide lipoidosis" EXACT [] xref: GARD:3230 xref: ICD10CM:E75.25 xref: MESH:D007966 xref: MIM:249900 xref: MIM:250100 xref: NCI:C61251 xref: ORDO:512 xref: SNOMEDCT_US_2023_03_01:3621006 xref: UMLS_CUI:C0023522 is_a: DOID:1927 ! sphingolipidosis [Term] id: DOID:10582 name: Refsum disease def: "A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues." [url:https\://en.wikipedia.org/wiki/Refsum_disease, url:https\://medlineplus.gov/genetics/condition/refsum-disease/, url:https\://pubmed.ncbi.nlm.nih.gov/30578512/, url:https\://rarediseases.org/rare-diseases/refsum-disease/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "adult Refsum disease" EXACT [] synonym: "classic Refsum disease" EXACT [] synonym: "Heredopathia atactica polyneuritiformis" EXACT [] synonym: "HMSN type IV" EXACT [] synonym: "HSMN IV" EXACT OMO:0003012 [] synonym: "phytanic acid oxidase deficiency" EXACT [] synonym: "Refsum's disease" EXACT [] xref: GARD:5691 xref: ICD10CM:G60.1 xref: ICD9CM:356.3 xref: MESH:D012035 xref: MIM:266500 xref: NCI:C85043 xref: ORDO:773 xref: SNOMEDCT_US_2023_03_01:25362006 xref: UMLS_CUI:C0034960 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:10584 name: retinitis pigmentosa alt_id: DOID:14742 def: "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss." [url:http\://en.wikipedia.org/wiki/Retinitis_pigmentosa, url:http\://ghr.nlm.nih.gov/condition/retinitis-pigmentosa, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/, url:https\://www.genome.gov/Genetic-Disorders/Retinitis-Pigmentosa] comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "pericentral pigmentary retinopathy" EXACT [] xref: GARD:5694 xref: ICD10CM:H35.52 xref: MESH:C538365 xref: MESH:D012174 xref: MIM:PS268000 xref: NCI:C85045 xref: ORDO:791 xref: SNOMEDCT_US_2023_03_01:155113002 xref: UMLS_CUI:C0035334 xref: UMLS_CUI:C0220701 is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:10585 name: obsolete hereditary and idiopathic peripheral neuropathy is_obsolete: true [Term] id: DOID:10587 name: Krabbe disease comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "beta galactocerebrosidase deficiency" EXACT [] synonym: "Diffuse globoid body sclerosis" EXACT [] synonym: "Galactosylceramide beta-galactosidase deficiency" EXACT [] synonym: "globoid cell leukodystrophy" EXACT [] synonym: "GLOBOID CELL LEUKOENCEPHALOPATHY" EXACT [] synonym: "Krabbe's disease" EXACT [] synonym: "Krabbe's leukodystrophy" EXACT [] xref: GARD:6844 xref: ICD10CM:E75.23 xref: MESH:D007965 xref: MIM:245200 xref: NCI:C61254 xref: SNOMEDCT_US_2023_03_01:192782005 xref: UMLS_CUI:C0023521 is_a: DOID:1927 ! sphingolipidosis [Term] id: DOID:10588 name: adrenoleukodystrophy alt_id: DOID:13451 def: "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death." [url:http\://en.wikipedia.org/wiki/Adrenoleukodystrophy, url:https\://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy] comment: MESH:D000326w added from NeuroDevNet [WAK]. subset: NCIthesaurus synonym: "ALD" EXACT OMO:0003012 [] synonym: "Bronze Schilder disease" EXACT [] synonym: "diffuse sclerosis" EXACT [] synonym: "Encephalitis periaxialis concentrica" EXACT [] synonym: "Encephalitis periaxialis, Schilder's" EXACT [] synonym: "Siemerling-Creutzfeldt Disease" EXACT [] synonym: "sudanophilic cerebral sclerosis" EXACT [] synonym: "X-linked adrenoleukodystrophy" EXACT [] xref: ICD10CM:E71.52 xref: MESH:D000326 xref: MIM:300100 xref: NCI:C61252 xref: SNOMEDCT_US_2023_03_01:65389002 xref: UMLS_CUI:C0162309 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10579 ! leukodystrophy property_value: exactMatch "MESH:D000326" xsd:string [Term] id: DOID:1059 name: intellectual disability def: "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills." [url:http\://aaidd.org/intellectual-disability/definition#.WsPDT2VvqaU, url:https\://en.wikipedia.org/wiki/Intellectual_disability] comment: OMIM mapping submitted by NeuroDevNet. [LS]. subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "mental retardation" RELATED [] xref: NCI:C84392 xref: SNOMEDCT_US_2023_03_01:1855002 xref: UMLS_CUI:C0025362 is_a: DOID:0060038 ! specific developmental disorder [Term] id: DOID:10590 name: mild pre-eclampsia def: "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation." [url:https\://www.britannica.com/science/mild-preeclampsia] xref: ICD9CM:642.40 xref: UMLS_CUI:C0156664 is_a: DOID:10591 ! pre-eclampsia [Term] id: DOID:10591 name: pre-eclampsia alt_id: DOID:12684 def: "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy." [url:http\://en.wikipedia.org/wiki/Pre-eclampsia, url:http\://ghr.nlm.nih.gov/condition/preeclampsia, url:https\://www.ncbi.nlm.nih.gov/pubmed/24400024] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "gestational hypertension" EXACT [] synonym: "hypertension induced by pregnancy" EXACT [] synonym: "pre-eclamptic toxaemia" EXACT [] synonym: "preeclampsia" EXACT [] synonym: "preeclampsia/eclampsia" EXACT [] synonym: "pregnancy associated hypertension" EXACT [] synonym: "pregnancy toxemia" EXACT [] synonym: "proteinuric hypertension of pregnancy" EXACT [] synonym: "toxaemia of pregnancy" EXACT [] xref: ICD10CM:O14 xref: MESH:D011225 xref: MIM:189800 xref: MIM:609402 xref: MIM:609403 xref: MIM:609404 xref: MIM:614592 xref: NCI:C85021 xref: ORDO:275555 xref: SNOMEDCT_US_2023_03_01:6758009 xref: UMLS_CUI:C0032914 is_a: DOID:10763 ! hypertension [Term] id: DOID:10593 name: idiopathic progressive polyneuropathy xref: ICD9CM:356.4 xref: SNOMEDCT_US_2023_03_01:193164007 xref: UMLS_CUI:C0154756 is_a: DOID:1389 ! polyneuropathy [Term] id: DOID:10594 name: obsolete idiopathic neuropathy synonym: "Unspecified idiopathic peripheral neuropathy" EXACT [] is_obsolete: true [Term] id: DOID:10595 name: Charcot-Marie-Tooth disease def: "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm." [url:https\://www.genome.gov/11009201, url:https\://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease] subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "CMT - Charcot-Marie-Tooth disease" EXACT [] xref: GARD:6034 xref: ICD10CM:G60.0 xref: ICD9CM:356.1 xref: MESH:D002607 xref: MIM:PS118220 xref: NCI:C75467 xref: SNOMEDCT_US_2023_03_01:193158000 xref: UMLS_CUI:C0007959 is_a: DOID:440 ! neuromuscular disease [Term] id: DOID:10597 name: obsolete gonococcal meningitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Gonococcal meningitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:106 name: pleural tuberculosis alt_id: DOID:12624 def: "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17426219] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "Pearly disease" EXACT [] synonym: "Tuberculosis of pleura" EXACT [] synonym: "Tuberculous pleurisy" EXACT [] synonym: "tuberculous pleurisy in primary progressive tuberculosis" EXACT [] synonym: "Tuberculous pleuritis" EXACT [] xref: ICD10CM:A15.6 xref: ICD9CM:010.1 xref: ICD9CM:012.0 xref: MESH:D014396 xref: NCI:C26898 xref: SNOMEDCT_US_2023_03_01:186172004 xref: SNOMEDCT_US_2023_03_01:68706009 xref: UMLS_CUI:C0041326 xref: UMLS_CUI:C0152531 is_a: DOID:0050598 ! extrapulmonary tuberculosis is_a: DOID:1205 ! allergic disease is_a: DOID:1532 ! pleural disease [Term] id: DOID:1060 name: Hartnup disease def: "An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "deficiency of tryptophan oxygenase" EXACT [] synonym: "Neutral 1 amino acid transport defect" EXACT [] synonym: "neutral amino acid transport defect" EXACT [] xref: GARD:6569 xref: ICD10CM:E72.02 xref: MESH:D006250 xref: MIM:234500 xref: NCI:C84748 xref: SNOMEDCT_US_2023_03_01:80902009 xref: UMLS_CUI:C0018609 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:10600 name: chronic tic disorder def: "A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year." [url:http\://en.wikipedia.org/wiki/Tic_disorder] subset: NCIthesaurus synonym: "chronic motor or vocal tic disorder" EXACT [] xref: ICD10CM:F95.1 xref: ICD9CM:307.22 xref: MESH:D013981 xref: NCI:C116768 xref: SNOMEDCT_US_2023_03_01:192623005 xref: UMLS_CUI:C0008701 is_a: DOID:2769 ! tic disorder [Term] id: DOID:10602 name: obsolete steatorrhea comment: doid/symp duplicate - moved to Symptom Ontology is_obsolete: true [Term] id: DOID:10603 name: glucose intolerance subset: NCIthesaurus synonym: "Glucose malabsorption" EXACT [] synonym: "Malabsorption of glucose" EXACT [] xref: ICD10CM:R73.03 xref: MESH:D018149 xref: NCI:C34646 xref: SNOMEDCT_US_2023_03_01:267426009 xref: UMLS_CUI:C0271650 is_a: DOID:4195 ! hyperglycemia [Term] id: DOID:10604 name: lactose intolerance def: "A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose." [url:https\://medlineplus.gov/genetics/condition/lactose-intolerance/] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "LM - Lactose malabsorption" EXACT [] xref: ICD10CM:E73 xref: MESH:D007787 xref: MIM:223100 xref: NCI:C3154 xref: SNOMEDCT_US_2023_03_01:267497007 xref: UMLS_CUI:C0022951 is_a: DOID:2978 ! carbohydrate metabolic disorder property_value: exactMatch "MESH:D007787" xsd:string [Term] id: DOID:10605 name: short bowel syndrome def: "An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine." [url:https\://rarediseases.org/rare-diseases/short-bowel-syndrome/] subset: NCIthesaurus synonym: "acquired short bowel syndrome" EXACT [] synonym: "short gut syndrome" EXACT [] xref: MESH:D012778 xref: NCI:C99059 xref: SNOMEDCT_US_2023_03_01:204768009 xref: UMLS_CUI:C0036992 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:10606 name: blind loop syndrome def: "An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption." [url:https\://en.wikipedia.org/wiki/Blind_loop_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/20572300] subset: NCIthesaurus synonym: "Bacterial overgrowth syndrome" EXACT [] xref: ICD10CM:K90.2 xref: ICD9CM:579.2 xref: MESH:D001765 xref: NCI:C34431 xref: SNOMEDCT_US_2023_03_01:77225009 xref: UMLS_CUI:C0005750 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:10607 name: tropical sprue subset: DO_rare_slim subset: NCIthesaurus synonym: "Sprue - tropical" EXACT [] synonym: "Tropical steatorrhea" EXACT [] xref: GARD:7824 xref: ICD10CM:K90.1 xref: ICD9CM:579.1 xref: MESH:D013182 xref: NCI:C45428 xref: SNOMEDCT_US_2023_03_01:155846005 xref: UMLS_CUI:C0038054 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:10608 name: celiac disease def: "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite." [url:http\://en.wikipedia.org/wiki/Coeliac_disease, url:http\://www.celiac.org/, url:http\://www.mayoclinic.com/health/celiac-disease/DS00319, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000233.htm, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/celiac-disease] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "celiac sprue" EXACT [] synonym: "coeliac disease" EXACT [] synonym: "idiopathic steatorrhea" EXACT [] xref: EFO:0001060 xref: GARD:11998 xref: ICD10CM:K90.0 xref: ICD9CM:579.0 xref: MESH:D002446 xref: MIM:607202 xref: MIM:609754 xref: MIM:611598 xref: MIM:612005 xref: MIM:612006 xref: MIM:612007 xref: MIM:612008 xref: MIM:612009 xref: MIM:612011 xref: NCI:C26714 xref: ORDO:555 xref: SNOMEDCT_US_2023_03_01:197477005 xref: UMLS_CUI:C0007570 is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract [Term] id: DOID:10609 name: rickets alt_id: DOID:11672 def: "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone." [url:http\://en.wikipedia.org/wiki/Rickets, url:http\://www.mayoclinic.com/health/rickets/DS00813, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000344.htm, url:http\://www.umm.edu/ency/article/000344.htm, url:https\://en.wikipedia.org/wiki/Rickets#Types, url:https\://www.ncbi.nlm.nih.gov/pubmed/26365554] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "active rickets" EXACT [] xref: GARD:5700 xref: ICD10CM:E55.0 xref: MESH:D012279 xref: NCI:C26878 xref: SNOMEDCT_US_2023_03_01:190639009 xref: UMLS_CUI:C0035579 is_a: DOID:0080005 ! bone remodeling disease property_value: exactMatch "MESH:D012279" xsd:string [Term] id: DOID:1061 name: obsolete renal aminoaciduria synonym: "inborn renal aminoaciduria" EXACT [] is_obsolete: true [Term] id: DOID:10610 name: pancreatic steatorrhea synonym: "pancreatic steatorrhoea" EXACT [] xref: ICD10CM:K90.3 xref: ICD9CM:579.4 xref: SNOMEDCT_US_2023_03_01:155845009 xref: UMLS_CUI:C0152166 is_a: DOID:26 ! pancreas disease [Term] id: DOID:10611 name: protein-losing enteropathy comment: OMIM mapping confirmed by DO. [SN]. synonym: "Enteropathy, exudative" EXACT [] synonym: "Exudative enteropathy" EXACT [] xref: MESH:D011504 xref: MIM:226300 xref: SNOMEDCT_US_2023_03_01:66972006 xref: UMLS_CUI:C0033680 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:10612 name: allergic urticaria def: "An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction." [url:https\://www.aafp.org/afp/2017/0601/p717.html] xref: ICD10CM:L50.0 xref: ICD9CM:708.0 xref: SNOMEDCT_US_2023_03_01:201260002 xref: UMLS_CUI:C0149526 is_a: DOID:1205 ! allergic disease is_a: DOID:1555 ! urticaria [Term] id: DOID:10615 name: acute gonococcal cervicitis def: "An acute cervicitis that is caused by gonorrhea." [url:https\://www.mayoclinic.org/diseases-conditions/cervicitis/symptoms-causes/syc-20370814] synonym: "acute gonorrhea of cervix" EXACT [] synonym: "Gonococcal cervicitis" EXACT [] xref: ICD9CM:098.15 xref: SNOMEDCT_US_2023_03_01:20943002 xref: UMLS_CUI:C0153195 is_a: DOID:10616 ! acute cervicitis [Term] id: DOID:10616 name: acute cervicitis def: "A cervicitis that is characterized by onset within the past 1 - 3 days." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23606387] subset: NCIthesaurus xref: NCI:C27056 xref: SNOMEDCT_US_2023_03_01:19272000 xref: UMLS_CUI:C0269061 is_a: DOID:2568 ! cervicitis [Term] id: DOID:10619 name: lymph node cancer alt_id: DOID:10438 def: "A lymphatic system cancer that is located_in the lymph node." [url:http\://www.cancer.org/cancer/cancerbasics/lymph-nodes-and-cancer] subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "lymph node neoplasm" EXACT [] xref: GARD:6932 xref: NCI:C35497 xref: SNOMEDCT_US_2023_03_01:127232002 xref: UMLS_CUI:C0596869 is_a: DOID:0060073 ! lymphatic system cancer is_a: DOID:9942 ! lymph node disease [Term] id: DOID:1062 name: Fanconi syndrome alt_id: DOID:5956 def: "A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting." [url:http\://en.wikipedia.org/wiki/Fanconi_syndrome, url:http\://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000333.htm] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "adult Fanconi Anemia" EXACT [] synonym: "adult Fanconi syndrome" EXACT [] synonym: "Congenital Fanconi syndrome" EXACT [] synonym: "De Toni-Fanconi syndrome" EXACT [] synonym: "deToni Fanconi syndrome" EXACT [] synonym: "Fanconi-de Toni syndrome" EXACT [] synonym: "Fanconi-de-Toni syndrome" EXACT [] synonym: "Infantile nephropathic cystinosis" EXACT [] synonym: "Lignac-Fanconi syndrome" EXACT [] xref: GARD:9118 xref: MESH:D005198 xref: MIM:PS134600 xref: NCI:C3034 xref: NCI:C4377 xref: ORDO:3337 xref: SNOMEDCT_US_2023_03_01:236468006 xref: SNOMEDCT_US_2023_03_01:40488004 xref: UMLS_CUI:C0015624 xref: UMLS_CUI:C0341703 is_a: DOID:447 ! renal tubular transport disease property_value: exactMatch "MESH:D005198" xsd:string [Term] id: DOID:10621 name: obsolete Fissure of nipple associated with childbirth is_obsolete: true [Term] id: DOID:10626 name: obsolete insulin dependent type diabetes mellitus uncontrolled with ketoacidosis synonym: "Juvenile type diabetes mellitus, uncontrolled, with ketoacidosis" EXACT [] synonym: "type I diabetes mellitus [juvenile type], uncontrolled, with ketoacidosis" EXACT [] is_obsolete: true [Term] id: DOID:10627 name: primary optic atrophy xref: ICD10CM:H47.21 xref: ICD9CM:377.11 xref: SNOMEDCT_US_2023_03_01:21098003 xref: UMLS_CUI:C0155291 is_a: DOID:5723 ! optic atrophy [Term] id: DOID:10629 name: microphthalmia alt_id: DOID:10650 def: "An eye disease where one or both eyeballs are abnormally small." [url:http\://en.wikipedia.org/wiki/Microphthalmia, url:http\://ghr.nlm.nih.gov/condition/microphthalmia] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "microphthalmos" EXACT [] synonym: "simple microphthalmos" EXACT [] xref: GARD:12085 xref: ICD10CM:Q11.2 xref: ICD9CM:743.1 xref: MESH:D008850 xref: NCI:C98989 xref: SNOMEDCT_US_2023_03_01:156902006 xref: UMLS_CUI:C0026010 is_a: DOID:5614 ! eye disease [Term] id: DOID:1063 name: interstitial nephritis subset: NCIthesaurus synonym: "renal tubulo-interstitial disease" EXACT [] xref: ICD10CM:N12 xref: MESH:D009395 xref: NCI:C26834 xref: SNOMEDCT_US_2023_03_01:28689008 xref: UMLS_CUI:C0027707 is_a: DOID:10952 ! nephritis [Term] id: DOID:10630 name: obsolete optic atrophy associated with retinal dystrophy synonym: "optic atrophy associated with retinal dystrophies" EXACT [] synonym: "optic atrophy associated with retinal dystrophy (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10631 name: partial optic atrophy xref: ICD9CM:377.15 xref: SNOMEDCT_US_2023_03_01:194044005 xref: UMLS_CUI:C0155295 is_a: DOID:5723 ! optic atrophy [Term] id: DOID:10632 name: Wolfram syndrome def: "A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness." [url:http\://en.wikipedia.org/wiki/Wolfram_syndrome] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "WFS" EXACT OMO:0003012 [] xref: GARD:7898 xref: MESH:D014929 xref: NCI:C35133 xref: ORDO:3463 xref: SNOMEDCT_US_2023_03_01:70694009 xref: UMLS_CUI:C0043207 is_a: DOID:225 ! syndrome [Term] id: DOID:1064 name: cystinosis def: "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17." [url:http\://ghr.nlm.nih.gov/condition/cystinosis, url:https\://en.wikipedia.org/wiki/Cystinosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/12110740] subset: DO_rare_slim subset: NCIthesaurus synonym: "cystine storage disease" EXACT [] xref: GARD:6236 xref: MESH:D003554 xref: MIM:219750 xref: MIM:219800 xref: MIM:219900 xref: NCI:C129932 xref: ORDO:213 xref: SNOMEDCT_US_2023_03_01:62332007 xref: UMLS_CUI:C2931187 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:10645 name: obsolete chronic state latent schizophrenia with acute exacerbation is_obsolete: true [Term] id: DOID:10646 name: schizotypal personality disorder def: "A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs." [url:http\://en.wikipedia.org/wiki/Schizotypal_personality_disorder] subset: NCIthesaurus xref: ICD10CM:F21 xref: ICD9CM:301.22 xref: MESH:D012569 xref: NCI:C92632 xref: SNOMEDCT_US_2023_03_01:231486008 xref: UMLS_CUI:C0036363 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10648 name: acute inferoposterior infarction xref: ICD9CM:410.30 xref: UMLS_CUI:C0155640 is_a: DOID:9408 ! acute myocardial infarction [Term] id: DOID:10649 name: acute inferolateral myocardial infarction xref: ICD9CM:410.20 xref: UMLS_CUI:C0155636 is_a: DOID:9408 ! acute myocardial infarction [Term] id: DOID:10651 name: acute anterolateral myocardial infarction xref: ICD9CM:410.0 xref: SNOMEDCT_US_2023_03_01:70211005 xref: UMLS_CUI:C0155627 is_a: DOID:9408 ! acute myocardial infarction [Term] id: DOID:10652 name: Alzheimer's disease def: "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." [url:http\://en.wikipedia.org/wiki/Alzheimer%27s_disease, url:http\://www.merriam-webster.com/medical/alzheimer%27s%20disease, url:http\://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet] {comment="ls:IEDB"} comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_RAD_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Alzheimer disease" EXACT [] synonym: "Alzheimers dementia" EXACT [] xref: GARD:10254 xref: ICD10CM:G30 xref: ICD9CM:331.0 xref: KEGG:05010 xref: MESH:D000544 xref: NCI:C2866 xref: SNOMEDCT_US_2023_03_01:73768007 xref: UMLS_CUI:C0002395 is_a: DOID:680 ! tauopathy [Term] id: DOID:10655 name: lipoma of colon subset: NCIthesaurus synonym: "Colonic Lipoma" EXACT [] xref: NCI:C5493 xref: UMLS_CUI:C0940607 is_a: DOID:5353 ! colonic disease is_a: DOID:6460 ! large intestine lipoma [Term] id: DOID:10656 name: colon leiomyoma subset: NCIthesaurus synonym: "Colonic leiomyoma" EXACT [] xref: NCI:C5492 xref: UMLS_CUI:C1333092 is_a: DOID:5353 ! colonic disease [Term] id: DOID:10657 name: colonic lymphangioma subset: NCIthesaurus synonym: "Lymphangioma of colon" EXACT [] xref: NCI:C5500 xref: UMLS_CUI:C1333094 is_a: DOID:235 ! colonic benign neoplasm [Term] id: DOID:10659 name: obsolete colonic ganglioneuroma is_obsolete: true [Term] id: DOID:1066 name: residual stage of open angle glaucoma synonym: "Open-angle glaucoma residual stage" EXACT [] xref: ICD10CM:H40.15 xref: ICD9CM:365.15 xref: SNOMEDCT_US_2023_03_01:66990007 xref: UMLS_CUI:C0154944 is_a: DOID:1067 ! open-angle glaucoma [Term] id: DOID:10660 name: mediastinum neuroblastoma def: "A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells." [url:http\://www.cancer.gov/dictionary?CdrID=45418] subset: DO_cancer_slim subset: NCIthesaurus synonym: "neuroblastoma of mediastinum" EXACT [] xref: NCI:C6628 xref: UMLS_CUI:C1334673 is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm [Term] id: DOID:10661 name: mediastinum ganglioneuroblastoma subset: NCIthesaurus synonym: "Ganglioneuroblastoma of mediastinum" EXACT [] xref: NCI:C6627 xref: UMLS_CUI:C1334653 is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm [Term] id: DOID:1067 name: open-angle glaucoma def: "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage." [url:http\://en.wikipedia.org/wiki/Glaucoma, url:http\://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html] comment: Xref MGI. subset: NCIthesaurus synonym: "glaucoma simplex" EXACT [] synonym: "open angle glaucoma" EXACT [] synonym: "pigmentary glaucoma" EXACT [] synonym: "Wide-angle glaucoma" EXACT [] xref: EFO:0004190 xref: ICD10CM:H40.1 xref: ICD9CM:365.1 xref: MESH:D005902 xref: MIM:137750 xref: MIM:177700 xref: MIM:602429 xref: MIM:603383 xref: MIM:606689 xref: MIM:608695 xref: MIM:608696 xref: MIM:609745 xref: MIM:609887 xref: MIM:610535 xref: MIM:611274 xref: MIM:611276 xref: MIM:613100 xref: NCI:C34641 xref: SNOMEDCT_US_2023_03_01:84494001 xref: UMLS_CUI:C0017612 is_a: DOID:1686 ! glaucoma [Term] id: DOID:1068 name: juvenile glaucoma def: "A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures." [url:https\://eyewiki.aao.org/Juvenile_open_angle_glaucoma, url:https\://ghr.nlm.nih.gov/condition/early-onset-glaucoma] subset: DO_rare_slim synonym: "Glaucoma of childhood" EXACT [] xref: MIM:137750 xref: ORDO:98977 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1070 ! primary open angle glaucoma [Term] id: DOID:10685 name: separation anxiety disorder def: "An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place." [url:http\://en.wikipedia.org/wiki/Separation_anxiety_disorder] is_a: DOID:2030 ! anxiety disorder [Term] id: DOID:10686 name: lactocele def: "A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands." [url:https\://en.wikipedia.org/wiki/Galactocele] subset: NCIthesaurus synonym: "Galactocele" EXACT [] xref: ICD10CM:N64.89 xref: ICD9CM:611.5 xref: MESH:C535998 xref: NCI:C3515 xref: SNOMEDCT_US_2023_03_01:42385006 xref: UMLS_CUI:C0152243 is_a: DOID:10350 ! breast cyst [Term] id: DOID:10688 name: hypertrophy of breast def: "A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue." [url:https\://en.wikipedia.org/wiki/Breast_hypertrophy] subset: NCIthesaurus synonym: "breasts enlarged" EXACT [] synonym: "large breast" EXACT [] xref: ICD10CM:N62 xref: ICD9CM:611.1 xref: NCI:C3125 xref: SNOMEDCT_US_2023_03_01:43336006 xref: UMLS_CUI:C0020565 is_a: DOID:3463 ! breast disease [Term] id: DOID:10689 name: obsolete galactorrhea not associated with childbirth synonym: "GALACTORRHEA" EXACT [] synonym: "Galactorrhea due to non-obstetric cause (disorder)" EXACT [] synonym: "Galactorrhea not associated with childbirth (disorder)" EXACT [] synonym: "Galactorrhoea" EXACT [] is_obsolete: true [Term] id: DOID:10690 name: mastitis def: "A breast disease characterized by painful infection of the breast tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25940456] subset: NCIthesaurus synonym: "breast inflammation" EXACT [] synonym: "Inflammatory breast disease" EXACT [] synonym: "Inflammatory disease of breast" EXACT [] xref: MESH:D008413 xref: NCI:C53662 xref: SNOMEDCT_US_2023_03_01:155952005 xref: UMLS_CUI:C0024894 is_a: DOID:3463 ! breast disease [Term] id: DOID:10691 name: fat necrosis of breast def: "A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury." [url:https\://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/fat-necrosis-and-oil-cysts-in-the-breast.html] subset: NCIthesaurus synonym: "breast Fat necrosis" EXACT [] xref: ICD10CM:N64.1 xref: ICD9CM:611.3 xref: NCI:C3661 xref: SNOMEDCT_US_2023_03_01:21381006 xref: UMLS_CUI:C0156321 is_a: DOID:3463 ! breast disease [Term] id: DOID:10697 name: chronic endophthalmitis xref: ICD9CM:360.03 xref: SNOMEDCT_US_2023_03_01:193269007 xref: UMLS_CUI:C0154774 is_a: DOID:9724 ! purulent endophthalmitis [Term] id: DOID:10699 name: paragonimiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Paragonimiasis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Infection by Paragonimus" EXACT [] synonym: "lung fluke disease" EXACT [] synonym: "lung fluke infection" EXACT [] synonym: "pulmonary paragonimiasis" EXACT [] xref: GARD:9815 xref: ICD10CM:B66.4 xref: ICD9CM:121.2 xref: MESH:D010237 xref: NCI:C84995 xref: SNOMEDCT_US_2023_03_01:30369007 xref: UMLS_CUI:C0030424 is_a: DOID:2529 ! splenic disease is_a: DOID:409 ! liver disease is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:936 ! brain disease [Term] id: DOID:1070 name: primary open angle glaucoma def: "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464971/] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "chronic simple glaucoma" EXACT [] xref: ICD10CM:H40.11 xref: ICD9CM:365.11 xref: MESH:D005902 xref: MIM:137760 xref: NCI:C35394 xref: SNOMEDCT_US_2023_03_01:77075001 xref: UMLS_CUI:C0339573 is_a: DOID:1067 ! open-angle glaucoma [Term] id: DOID:10708 name: obsolete passive-aggressive personality disorder synonym: "Passive-aggressive personality" EXACT [] synonym: "passive-aggressive personality disorder" RELATED [] is_obsolete: true [Term] id: DOID:10717 name: obsolete meningococcal septicemia subset: gram-negative_bacterial_infectious_disease synonym: "Meningococcal septicaemia" EXACT [] synonym: "Meningococcemia" EXACT [] synonym: "Meningococcemia (disorder)" EXACT [] synonym: "Meningococcemia, unspecified (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10718 name: giardiasis def: "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." [url:http\://en.wikipedia.org/wiki/Giardiasis, url:http\://www.dpd.cdc.gov/DPDx/HTML/Giardiasis.htm] subset: DO_infectious_disease_slim synonym: "beaver feaver" EXACT [] synonym: "Infection by Giardia lamblia" EXACT [] xref: ICD10CM:A07.1 xref: ICD9CM:007.1 xref: MEDDRA:0017536 xref: MESH:D005873 xref: SNOMEDCT_US_2023_03_01:266176008 xref: UMLS_CUI:C0017536 is_a: DOID:2789 ! parasitic protozoa infectious disease [Term] id: DOID:10719 name: toxic diffuse goiter subset: DO_rare_slim xref: GARD:6549 xref: ICD9CM:242.00 xref: UMLS_CUI:C0154138 is_a: DOID:7998 ! hyperthyroidism [Term] id: DOID:1073 name: renal hypertension subset: NCIthesaurus xref: MESH:D006977 xref: NCI:C3121 xref: SNOMEDCT_US_2023_03_01:194775007 xref: UMLS_CUI:C0020544 is_a: DOID:11130 ! secondary hypertension is_a: DOID:557 ! kidney disease [Term] id: DOID:10731 name: obsolete nodular lung tuberculosis def: "A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801923/pdf/canmedaj01136-0061.pdf] subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:1074 name: kidney failure def: "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood." [url:http\://en.wikipedia.org/wiki/Renal_failure, url:http\://www.nlm.nih.gov/medlineplus/kidneyfailure.html] comment: PRISM. subset: NCIthesaurus synonym: "renal failure" EXACT [] xref: ICD10CM:N19 xref: ICD9CM:586 xref: MESH:D051437 xref: NCI:C4376 xref: SNOMEDCT_US_2023_03_01:42399005 xref: UMLS_CUI:C0035078 is_a: DOID:557 ! kidney disease [Term] id: DOID:10742 name: cerebral lipidosis xref: ICD9CM:330.1 xref: SNOMEDCT_US_2023_03_01:16517004 xref: UMLS_CUI:C0007788 is_a: DOID:1443 ! cerebral degeneration [Term] id: DOID:10744 name: broad ligament malignant neoplasm def: "A uterine adnexa cancer that is located_in the broad ligament." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26140828] subset: NCIthesaurus synonym: "malignant neoplasm of broad ligament of uterus" EXACT [] xref: ICD10CM:C57.1 xref: ICD9CM:183.3 xref: NCI:C179934 xref: SNOMEDCT_US_2023_03_01:93728003 xref: UMLS_CUI:C0346866 is_a: DOID:11747 ! uterine adnexa cancer [Term] id: DOID:10747 name: obsolete lymphoid leukemia is_obsolete: true [Term] id: DOID:1075 name: obsolete chronic pyelonephritis with lesion of renal medullary necrosis is_obsolete: true [Term] id: DOID:10754 name: otitis media def: "A otitis which involves inflammation of the middle ear." [url:http\://en.wikipedia.org/wiki/Otitis_media] subset: NCIthesaurus xref: ICD10CM:H66.9 xref: ICD9CM:382.9 xref: MESH:D010033 xref: NCI:C34885 xref: SNOMEDCT_US_2023_03_01:65363002 xref: UMLS_CUI:C0029882 is_a: DOID:5100 ! middle ear disease [Term] id: DOID:10755 name: petrositis alt_id: DOID:14013 alt_id: DOID:14014 def: "An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone." [url:http\://medical-dictionary.thefreedictionary.com/petrositis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001254.htm] subset: DO_infectious_disease_slim synonym: "acute petrositis" EXACT [] synonym: "chronic petrositis" EXACT [] synonym: "inflammation of petrous bone" RELATED [] xref: ICD10CM:H70.2 xref: ICD10CM:H70.21 xref: ICD10CM:H70.22 xref: ICD9CM:383.2 xref: ICD9CM:383.21 xref: ICD9CM:383.22 xref: MESH:D059270 xref: SNOMEDCT_US_2023_03_01:155233009 xref: SNOMEDCT_US_2023_03_01:28593007 xref: SNOMEDCT_US_2023_03_01:51211002 xref: UMLS_CUI:C0155448 xref: UMLS_CUI:C0155449 xref: UMLS_CUI:C0155450 is_a: DOID:1019 ! osteomyelitis [Term] id: DOID:1076 name: chronic pyelonephritis subset: NCIthesaurus xref: ICD10CM:N11 xref: ICD9CM:590.0 xref: NCI:C123216 xref: SNOMEDCT_US_2023_03_01:123293005 xref: UMLS_CUI:C0085697 is_a: DOID:11400 ! pyelonephritis [Term] id: DOID:10760 name: obsolete choroidal rupture synonym: "Choroidal rupture (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10762 name: portal hypertension subset: DO_rare_slim subset: NCIthesaurus xref: GARD:8229 xref: ICD10CM:K76.6 xref: ICD9CM:572.3 xref: MESH:D006975 xref: NCI:C3119 xref: SNOMEDCT_US_2023_03_01:155821005 xref: UMLS_CUI:C0020541 is_a: DOID:272 ! hepatic vascular disease [Term] id: DOID:10763 name: hypertension def: "An artery disease characterized by chronic elevated blood pressure in the arteries." [url:https\://en.wikipedia.org/wiki/Hypertension, url:https\://www.ncbi.nlm.nih.gov/pubmed/24352797] subset: NCIthesaurus synonym: "HTN" EXACT OMO:0003012 [] synonym: "hyperpiesia" EXACT [] synonym: "hypertensive disease" RELATED [] synonym: "vascular hypertensive disorder" EXACT [] xref: EFO:0000537 xref: ICD10CM:I10 xref: ICD9CM:401-405.99 xref: MESH:D006973 xref: NCI:C3117 xref: SNOMEDCT_US_2023_03_01:38341003 xref: UMLS_CUI:C0020538 is_a: DOID:0050828 ! artery disease [Term] id: DOID:10764 name: obsolete liver abscess and sequelae of chronic liver disease is_obsolete: true [Term] id: DOID:1077 name: obsolete Spirurida infectious disease alt_id: DOID:11679 def: "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida." [url:http\://en.wikipedia.org/wiki/Spirurida] synonym: "filarial infectious disease and dracontiasis" EXACT [] is_obsolete: true [Term] id: DOID:10772 name: thrombotic thrombocytopenic purpura subset: DO_rare_slim subset: NCIthesaurus synonym: "Moschcowitz's syndrome" EXACT [] xref: GARD:9430 xref: ICD10CM:M31.19 xref: MESH:D011697 xref: MIM:274150 xref: NCI:C78797 xref: SNOMEDCT_US_2023_03_01:360402008 xref: UMLS_CUI:C0034155 is_a: DOID:2452 ! thrombophilia [Term] id: DOID:10773 name: bubonic plague alt_id: DOID:0050068 def: "A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration." [url:https\://en.wikipedia.org/wiki/Bubonic_plague] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "black death" EXACT [] xref: GARD:183 xref: ICD10CM:A20.0 xref: ICD9CM:020.0 xref: MESH:D010930 xref: SNOMEDCT_US_2023_03_01:50797007 xref: UMLS_CUI:C0282312 is_a: DOID:3482 ! plague is_a: DOID:9942 ! lymph node disease [Term] id: DOID:10774 name: obsolete cutaneous plague subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "cellulocutaneous plague" EXACT [] synonym: "cellulocutaneous plague (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10778 name: fiedler's myocarditis synonym: "fiedler myocarditis" EXACT [] synonym: "Idiopathic myocarditis" EXACT [] synonym: "Isolated (Fiedler's) myocarditis" EXACT [] xref: ICD10CM:I40.1 xref: ICD9CM:422.91 xref: SNOMEDCT_US_2023_03_01:194954007 xref: UMLS_CUI:C0155689 is_a: DOID:3951 ! acute myocarditis [Term] id: DOID:10779 name: septic myocarditis def: "An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27574633] xref: ICD10CM:I40.0 xref: ICD9CM:422.92 xref: SNOMEDCT_US_2023_03_01:64043005 xref: UMLS_CUI:C0155690 is_a: DOID:3951 ! acute myocarditis [Term] id: DOID:1078 name: obsolete Chromadorea infectious disease alt_id: DOID:4192 def: "A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands." [url:http\://en.wikipedia.org/wiki/Chromadoria] synonym: "secernentea infectious disease" EXACT [] is_obsolete: true [Term] id: DOID:10780 name: primary polycythemia def: "A polycythemia that has_material_basis_in factors intrinsic to red cell precursors." [url:https\://en.wikipedia.org/wiki/Polycythemia#Primary_polycythemia] subset: NCIthesaurus synonym: "familial erythrocytosis" EXACT [] synonym: "Familiar Polycythemia" EXACT [] xref: ICD10CM:D75.0 xref: ICD9CM:289.6 xref: MIM:PS133100 xref: NCI:C26955 xref: SNOMEDCT_US_2023_03_01:267571003 xref: UMLS_CUI:C0152264 is_a: DOID:8432 ! polycythemia [Term] id: DOID:10782 name: mesenteric lymphadenitis subset: NCIthesaurus synonym: "Mesenteric adenitis" EXACT [] xref: ICD10CM:I88.0 xref: ICD9CM:289.2 xref: MESH:D008640 xref: NCI:C26830 xref: SNOMEDCT_US_2023_03_01:191376006 xref: UMLS_CUI:C0025469 is_a: DOID:1602 ! lymphadenitis [Term] id: DOID:10783 name: methemoglobinemia subset: NCIthesaurus xref: ICD10CM:D74 xref: ICD9CM:289.7 xref: MESH:D008708 xref: NCI:C34817 xref: SNOMEDCT_US_2023_03_01:191386007 xref: UMLS_CUI:C0025637 is_a: DOID:2860 ! hemoglobinopathy [Term] id: DOID:10784 name: Queensland tick typhus alt_id: DOID:0050038 def: "A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy." [url:http\://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29, url:http\://www.cdc.gov/otherspottedfever/index.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "Australian tick typhus" EXACT [] synonym: "North Queensland tick typhus" RELATED [] synonym: "Rickettsia australis spotted fever" EXACT [] is_a: DOID:11104 ! spotted fever [Term] id: DOID:10787 name: premature menopause def: "An ovarian dysfunction that is the loss of normal ovarian function before age 40." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26316242] subset: NCIthesaurus synonym: "Menopause - premature" EXACT [] synonym: "Menopause praecox" EXACT [] xref: ICD10CM:E28.31 xref: ICD9CM:256.31 xref: MESH:D008594 xref: NCI:C80099 xref: SNOMEDCT_US_2023_03_01:154713003 xref: UMLS_CUI:C0025322 is_a: DOID:1414 ! ovarian dysfunction [Term] id: DOID:10788 name: obsolete osteitis condensans synonym: "Focal sclerosing osteomyelitis" EXACT [] synonym: "Sclerosing osteitis" EXACT [] is_obsolete: true [Term] id: DOID:1079 name: setariasis def: "A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria." [url:http\://www.jstor.org/stable/pdfplus/3277411.pdf] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease synonym: "Infectious Disease by Setaria" EXACT [] xref: MESH:D012719 xref: SNOMEDCT_US_2023_03_01:4414005 xref: UMLS_CUI:C0036850 is_a: DOID:1080 ! filariasis [Term] id: DOID:10790 name: chronic frontal sinusitis def: "A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html] subset: NCIthesaurus xref: ICD10CM:J32.1 xref: ICD9CM:473.1 xref: NCI:C34473 xref: SNOMEDCT_US_2023_03_01:155527004 xref: UMLS_CUI:C0008683 is_a: DOID:10791 ! frontal sinusitis [Term] id: DOID:10791 name: frontal sinusitis def: "A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm] subset: NCIthesaurus xref: ICD10CM:J32.1 xref: MESH:D015522 xref: NCI:C34626 xref: SNOMEDCT_US_2023_03_01:275485006 xref: UMLS_CUI:C0016735 is_a: DOID:0050127 ! sinusitis [Term] id: DOID:10792 name: chronic maxillary sinusitis def: "A maxillary sinusitis which lasts for 12 weeks or more." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html] subset: NCIthesaurus synonym: "chronic antritis" EXACT [] xref: ICD10CM:J32.0 xref: ICD9CM:473.0 xref: NCI:C34477 xref: SNOMEDCT_US_2023_03_01:195785003 xref: UMLS_CUI:C0008698 is_a: DOID:2051 ! maxillary sinusitis [Term] id: DOID:10793 name: chronic sphenoidal sinusitis def: "A sphenoid sinusitis which lasts for 12 weeks or more." [url:http\://en.wikipedia.org/wiki/sinusitis] subset: NCIthesaurus synonym: "Sphenoidal sinus-chr." EXACT [] xref: ICD10CM:J32.3 xref: ICD9CM:473.3 xref: NCI:C34480 xref: SNOMEDCT_US_2023_03_01:155528009 xref: UMLS_CUI:C0008712 is_a: DOID:10794 ! sphenoid sinusitis [Term] id: DOID:10794 name: sphenoid sinusitis def: "A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head." [url:http\://en.wikipedia.org/wiki/sinusitis] subset: NCIthesaurus synonym: "Sphenoidal sinusitis" EXACT [] xref: ICD10CM:J32.3 xref: MESH:D015524 xref: NCI:C35031 xref: SNOMEDCT_US_2023_03_01:13266007 xref: UMLS_CUI:C0037886 is_a: DOID:0050127 ! sinusitis [Term] id: DOID:10795 name: obsolete congenital syphilitic encephalitis subset: gram-negative_bacterial_infectious_disease synonym: "Congenital syphilitic encephalitis (disorder)" EXACT [] synonym: "Encephalitis due to congenital syphilis" EXACT [] is_obsolete: true [Term] id: DOID:1080 name: filariasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea." [url:http\://en.wikipedia.org/wiki/Filariasis] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "disease due to superfamily Filarioidea" EXACT [] xref: ICD10CM:B74 xref: ICD9CM:125.9 xref: MESH:D005368 xref: NCI:C34611 xref: SNOMEDCT_US_2023_03_01:50342004 xref: UMLS_CUI:C0016085 is_a: DOID:883 ! parasitic helminthiasis infectious disease property_value: exactMatch "MESH:D005368" xsd:string [Term] id: DOID:10802 name: acute gonococcal epididymo-orchitis synonym: "Gonococcal epididymo-orchitis" EXACT [] xref: ICD9CM:098.13 xref: SNOMEDCT_US_2023_03_01:186912008 xref: UMLS_CUI:C0153193 is_a: DOID:9401 ! epididymo-orchitis [Term] id: DOID:10803 name: obsolete Haemophilus influenzae meningitis subset: gram-negative_bacterial_infectious_disease synonym: "Haemophilus meningitis (disorder)" EXACT [] synonym: "Hemophilus meningitis" EXACT [] is_obsolete: true [Term] id: DOID:10808 name: gastric ulcer alt_id: DOID:10807 alt_id: DOID:10809 alt_id: DOID:12047 alt_id: DOID:12057 alt_id: DOID:12068 alt_id: DOID:12069 alt_id: DOID:12806 alt_id: DOID:13124 alt_id: DOID:13125 alt_id: DOID:241 alt_id: DOID:242 subset: NCIthesaurus synonym: "acute gastric ulcer with haemorrhage and perforation" EXACT [] synonym: "acute gastric ulcer with hemorrhage and obstruction" EXACT [] synonym: "acute gastric ulcer with hemorrhage and perforation" EXACT [] synonym: "acute gastric ulcer with hemorrhage and perforation, with obstruction" EXACT [] synonym: "acute gastric ulcer with hemorrhage and perforation, without mention of obstruction" EXACT [] synonym: "acute gastric ulcer with hemorrhage AND with perforation but without obstruction" EXACT [] synonym: "acute gastric ulcer with hemorrhage, with obstruction" EXACT [] synonym: "acute gastric ulcer with hemorrhage, with perforation AND with obstruction" EXACT [] synonym: "acute gastric ulcer with perforation" EXACT [] synonym: "acute gastric ulcer with perforation AND obstruction" EXACT [] synonym: "acute gastric ulcer with perforation, with obstruction" EXACT [] synonym: "acute gastric ulcer without hemorrhage and without perforation" EXACT [] synonym: "acute gastric ulcer without hemorrhage, without perforation AND without obstruction" EXACT [] synonym: "acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [] synonym: "bleeding acute gastric ulcer" EXACT [] synonym: "chronic gastric ulcer without hemorrhage AND without perforation" EXACT [] synonym: "chronic gastric ulcer without hemorrhage AND without perforation but with obstruction" EXACT [] synonym: "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction" EXACT [] xref: ICD10CM:K25 xref: ICD9CM:531 xref: MESH:D013276 xref: NCI:C3388 xref: SNOMEDCT_US_2023_03_01:155681009 xref: UMLS_CUI:C0038358 is_a: DOID:750 ! peptic ulcer disease [Term] id: DOID:1081 name: mansonelliasis def: "A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies." [url:http\://en.wikipedia.org/wiki/Mansonelliasis] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:8216 xref: ICD10CM:B74.4 xref: MESH:D008368 xref: NCI:C84882 xref: SNOMEDCT_US_2023_03_01:240849009 xref: UMLS_CUI:C0024759 is_a: DOID:1080 ! filariasis is_a: DOID:37 ! skin disease [Term] id: DOID:10810 name: tibialis tendinitis xref: ICD9CM:726.72 xref: SNOMEDCT_US_2023_03_01:50127006 xref: UMLS_CUI:C0158321 is_a: DOID:971 ! tendinitis [Term] id: DOID:10811 name: nasal cavity cancer def: "A respiratory system cancer that is located_in the nasal cavity." [url:http\://en.wikipedia.org/wiki/Nasal_cavity] subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "malignant neoplasm of nasal cavities" EXACT [] synonym: "malignant tumor of the nasal cavity" EXACT [] xref: ICD10CM:C30.0 xref: ICD9CM:160.0 xref: NCI:C4918 xref: SNOMEDCT_US_2023_03_01:93917007 xref: UMLS_CUI:C0728864 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:2163 ! nasal cavity disease [Term] id: DOID:10812 name: nasal cavity olfactory neuroblastoma subset: NCIthesaurus synonym: "Olfactory neuroblastoma of the nasal cavity" EXACT [] xref: NCI:C7604 xref: UMLS_CUI:C1334923 is_a: DOID:10811 ! nasal cavity cancer is_a: DOID:369 ! olfactory neuroblastoma [Term] id: DOID:10813 name: nasal cavity lymphoma subset: NCIthesaurus synonym: "lymphoma of nasal cavity" EXACT [] synonym: "Lymphoma of the nasal cavity" EXACT [] xref: NCI:C6074 xref: UMLS_CUI:C1334921 is_a: DOID:0060058 ! lymphoma is_a: DOID:10811 ! nasal cavity cancer [Term] id: DOID:10815 name: obsolete recurrent duodenal cancer synonym: "recurrent malignant Duodenal neoplasm" EXACT [] is_obsolete: true [Term] id: DOID:10816 name: duodenum adenocarcinoma def: "A duodenum cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "Duodenal adenocarcinoma" EXACT [] xref: NCI:C7889 xref: SNOMEDCT_US_2023_03_01:408644002 xref: UMLS_CUI:C0278804 is_a: DOID:10021 ! duodenum cancer is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:10817 name: sexual sadism subset: NCIthesaurus xref: ICD10CM:F65.52 xref: ICD9CM:302.84 xref: MESH:D012448 xref: NCI:C94358 xref: SNOMEDCT_US_2023_03_01:59394009 xref: UMLS_CUI:C0036913 is_a: DOID:0060043 ! sexual health disorder [Term] id: DOID:10818 name: obsolete leptospiral meningitis subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Aseptic leptospiral meningitis" EXACT [] synonym: "Aseptic leptospiral meningitis (disorder)" EXACT [] synonym: "Leptospiral meningitis (aseptic)" EXACT [] synonym: "Leptospiral meningitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1082 name: dirofilariasis def: "A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions." [url:https\://en.wikipedia.org/wiki/Dirofilariasis] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: zoonotic_infectious_disease synonym: "Dirofilaria infectious disease" EXACT [] synonym: "Infection by Dirofilaria" EXACT [] xref: GARD:11908 xref: ICD10CM:B74.8 xref: MESH:D004184 xref: SNOMEDCT_US_2023_03_01:73328005 xref: UMLS_CUI:C0012602 is_a: DOID:1080 ! filariasis is_a: DOID:37 ! skin disease is_a: DOID:850 ! lung disease [Term] id: DOID:10823 name: malignant essential hypertension subset: NCIthesaurus synonym: "Accelerated essential hypertension" EXACT [] xref: ICD9CM:401.0 xref: NCI:C34802 xref: SNOMEDCT_US_2023_03_01:78975002 xref: UMLS_CUI:C0024588 is_a: DOID:10825 ! essential hypertension [Term] id: DOID:10824 name: malignant hypertension def: "A hypertension that is characterized by rapid onset of extremely high blood pressure." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3118] subset: NCIthesaurus xref: MESH:D006974 xref: NCI:C3118 xref: SNOMEDCT_US_2023_03_01:155301003 xref: UMLS_CUI:C0020540 is_a: DOID:10763 ! hypertension [Term] id: DOID:10825 name: essential hypertension def: "A hypertension with no known cause. It is the most common type of hypertension." [url:http\://en.wikipedia.org/wiki/Essential_hypertension, url:http\://www.merckmanuals.com/professional/cardiovascular_disorders/hypertension/overview_of_hypertension.html] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "idiopathic hypertension" EXACT [] synonym: "primary hypertension" EXACT [] xref: ICD10CM:I10 xref: ICD9CM:401 xref: MESH:D000075222 xref: MIM:145500 xref: MIM:603918 xref: MIM:604329 xref: MIM:607329 xref: MIM:608742 xref: MIM:610261 xref: MIM:610262 xref: MIM:610948 xref: MIM:611014 xref: NCI:C3478 xref: ORDO:243761 xref: SNOMEDCT_US_2023_03_01:194757006 xref: UMLS_CUI:C0085580 is_a: DOID:10763 ! hypertension [Term] id: DOID:10827 name: obsolete gender identity disorder in adolescent or adult is_obsolete: true [Term] id: DOID:10834 name: voyeurism subset: NCIthesaurus xref: ICD10CM:F65.3 xref: ICD9CM:302.82 xref: MESH:D014843 xref: NCI:C94360 xref: SNOMEDCT_US_2023_03_01:192515002 xref: UMLS_CUI:C0042979 is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:10835 name: chylocele of tunica vaginalis xref: ICD9CM:608.84 xref: SNOMEDCT_US_2023_03_01:7864001 xref: UMLS_CUI:C0156315 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:10836 name: obsolete diabetes mellitus with hyperosmolarity is_obsolete: true [Term] id: DOID:10837 name: obsolete diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled synonym: "Diabetes mellitus, juvenile type with hyperosmolarity, not stated as uncontrolled" EXACT [] synonym: "Diabetes mellitus, type I [insulin dependent type] [IDDM] [juvenile type] with hyperosmolarity, not stated as uncontrolled" EXACT [] is_obsolete: true [Term] id: DOID:10838 name: obsolete diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled synonym: "Diabetes mellitus, juvenile type with hyperosmolarity, uncontrolled" EXACT [] synonym: "Diabetes mellitus, type I [juvenile type] with hyperosmolarity, uncontrolled" EXACT [] is_obsolete: true [Term] id: DOID:10841 name: Eastern equine encephalitis def: "A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma." [url:http\://www.cdc.gov/EasternEquineEncephalitis/index.html, url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.ncagr.gov/vet/FactSheets/EEE.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: zoonotic_infectious_disease synonym: "EEE" RELATED OMO:0003012 [] synonym: "Neuroinvasive Eastern equine encephalitis virus infection" EXACT [] xref: GARD:10821 xref: ICD10CM:A83.2 xref: ICD9CM:062.2 xref: MESH:D020242 xref: SNOMEDCT_US_2023_03_01:40177004 xref: UMLS_CUI:C0153065 is_a: DOID:934 ! viral infectious disease is_a: DOID:936 ! brain disease [Term] id: DOID:10842 name: Murray Valley encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness." [url:https\://www.ncbi.nlm.nih.gov/pubmed/13007862] subset: DO_infectious_disease_slim synonym: "Australian encephalitis" EXACT [] synonym: "Australian X disease" EXACT [] xref: ICD10CM:A83.4 xref: ICD9CM:062.4 xref: SNOMEDCT_US_2023_03_01:66454007 xref: UMLS_CUI:C0153066 is_a: DOID:934 ! viral infectious disease is_a: DOID:936 ! brain disease [Term] id: DOID:10843 name: Western equine encephalitis def: "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "WEE" RELATED OMO:0003012 [] xref: GARD:7888 xref: ICD10CM:A83.1 xref: ICD9CM:062.1 xref: MESH:D020241 xref: NCI:C85227 xref: SNOMEDCT_US_2023_03_01:47523006 xref: UMLS_CUI:C0153064 is_a: DOID:934 ! viral infectious disease is_a: DOID:936 ! brain disease [Term] id: DOID:10844 name: Japanese encephalitis def: "A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.cdc.gov/ncidod/dvbid/jencephalitis/qa.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Japanese B encephalitis" EXACT [] xref: GARD:6797 xref: ICD10CM:A83.0 xref: ICD9CM:062.0 xref: MESH:D004672 xref: NCI:C34577 xref: SNOMEDCT_US_2023_03_01:266194002 xref: UMLS_CUI:C0014057 is_a: DOID:934 ! viral infectious disease is_a: DOID:936 ! brain disease [Term] id: DOID:10845 name: St. Louis encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.cdc.gov/ncidod/dvbid/sle/Sle_FactSheet.html] subset: DO_infectious_disease_slim synonym: "Neuroinvasive St. Louis encephalitis virus infection" EXACT [] xref: ICD10CM:A83.3 xref: ICD9CM:062.3 xref: MESH:D004674 xref: SNOMEDCT_US_2023_03_01:10429004 xref: UMLS_CUI:C0014060 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:10846 name: angiodysplasia of intestine xref: ICD9CM:569.84 xref: SNOMEDCT_US_2023_03_01:235853006 xref: UMLS_CUI:C0267367 is_a: DOID:2494 ! angiodysplasia is_a: DOID:5295 ! intestinal disease [Term] id: DOID:10848 name: obsolete intrauterine hypoxia and birth asphyxia is_obsolete: true [Term] id: DOID:10849 name: sexual masochism subset: NCIthesaurus xref: ICD10CM:F65.51 xref: ICD9CM:302.83 xref: MESH:D008398 xref: NCI:C94356 xref: SNOMEDCT_US_2023_03_01:248104007 xref: UMLS_CUI:C0036908 is_a: DOID:0060043 ! sexual health disorder [Term] id: DOID:1085 name: Edwards syndrome def: "A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18." [url:https\://ghr.nlm.nih.gov/condition/trisomy-18] comment: OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus synonym: "Complete trisomy 18 syndrome" EXACT [] synonym: "E3 Trisomy" EXACT [] synonym: "trisomy 18" EXACT [] xref: ICD9CM:758.2 xref: MESH:D000073842 xref: NCI:C101362 xref: SNOMEDCT_US_2023_03_01:51500006 xref: UMLS_CUI:C0152096 is_a: DOID:0060429 ! chromosomal duplication syndrome [Term] id: DOID:10852 name: middle ear cholesterol granuloma def: "A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum." [url:http\://books.google.com/books?id=ZjbGu_NasbcC&pg=RA1-PA75&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16354369] subset: NCIthesaurus synonym: "Cholesterin granuloma" EXACT [] synonym: "Cholesterin granuloma of middle ear" EXACT [] xref: NCI:C3655 xref: SNOMEDCT_US_2023_03_01:28371001 xref: UMLS_CUI:C0155492 is_a: DOID:10754 ! otitis media [Term] id: DOID:10854 name: salivary gland disease alt_id: DOID:12898 def: "A mouth disease located_in the salivary gland." [url:https\://www.cedars-sinai.org/health-library/diseases-and-conditions/s/salivary-gland-disease-and-tumors.html] synonym: "Non-neoplastic Salivary gland disease" EXACT [] xref: ICD9CM:527.8 xref: UMLS_CUI:C0029773 is_a: DOID:403 ! mouth disease [Term] id: DOID:1086 name: obsolete congenital chromosomal disease is_obsolete: true [Term] id: DOID:10863 name: paralytic squint synonym: "Incomitant dissociation" EXACT [] synonym: "Paralytic strabismus" EXACT [] xref: ICD10CM:H49 xref: ICD9CM:378.5 xref: SNOMEDCT_US_2023_03_01:12942001 xref: UMLS_CUI:C0152221 is_a: DOID:540 ! strabismus [Term] id: DOID:10864 name: partial third-nerve palsy synonym: "Partial third nerve palsy" EXACT [] synonym: "Third nerve palsy with pupil sparing" EXACT [] synonym: "Third or oculomotor nerve palsy, partial" EXACT [] xref: ICD9CM:378.51 xref: MESH:D015840 xref: SNOMEDCT_US_2023_03_01:194118007 xref: UMLS_CUI:C0271370 is_a: DOID:10863 ! paralytic squint [Term] id: DOID:10865 name: abducens nerve palsy def: "A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve." [url:https\://pubmed.ncbi.nlm.nih.gov/35356946/, url:https\://www.aapos.org/glossary/sixth-nerve-palsy, url:https\://www.ncbi.nlm.nih.gov/books/NBK482177/] subset: DO_rare_slim subset: NCIthesaurus synonym: "abducens nerve disease" EXACT [] synonym: "Abducens nerve weakness" EXACT [] synonym: "abducens palsy" EXACT [] synonym: "Lateral rectus muscle denervation paresis" EXACT [] synonym: "Lateral rectus muscle innervation disorder" EXACT [] synonym: "Sixth cranial nerve disorder" EXACT [] synonym: "Sixth nerve palsy" EXACT [] synonym: "VIth nerve disorder" EXACT [] synonym: "VIth nerve Paralysis" EXACT [] xref: GARD:9482 xref: MESH:D020434 xref: MIM:100200 xref: NCI:C27593 xref: SNOMEDCT_US_2023_03_01:82373004 xref: UMLS_CUI:C0271355 is_a: DOID:3817 ! cranial nerve palsy [Term] id: DOID:10866 name: total third-nerve palsy synonym: "Third nerve palsy with pupil involved" EXACT [] synonym: "Third or oculomotor nerve palsy, total" EXACT [] synonym: "Total third nerve palsy" EXACT [] xref: ICD9CM:378.52 xref: MESH:D015840 xref: SNOMEDCT_US_2023_03_01:194119004 xref: UMLS_CUI:C0271371 is_a: DOID:10863 ! paralytic squint [Term] id: DOID:10869 name: fourth cranial nerve palsy synonym: "Fourth nerve palsy" EXACT [] synonym: "Fourth or trochlear nerve palsy" EXACT [] is_a: DOID:10863 ! paralytic squint [Term] id: DOID:10871 name: age related macular degeneration def: "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision." [url:http\://en.wikipedia.org/wiki/Macular_degeneration] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Age Related Maculopathies" EXACT [] synonym: "Age Related Maculopathy" EXACT [] synonym: "age-related macular degeneration" EXACT [] synonym: "Senile macular degeneration" EXACT [] synonym: "Senile macular retinal degeneration" EXACT [] xref: EFO:0001365 xref: ICD10CM:H35.30 xref: ICD9CM:362.50 xref: MESH:D008268 xref: MIM:PS603075 xref: NCI:C84391 xref: SNOMEDCT_US_2023_03_01:18222007 xref: UMLS_CUI:C0242383 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2007 ! degeneration of macula and posterior pole [Term] id: DOID:10873 name: Kuhnt-Junius degeneration synonym: "Exudative senile macular degeneration of retina" EXACT [] synonym: "Neovascular age-related macular degeneration" EXACT [] synonym: "Senile macular degeneration, wet" EXACT [] synonym: "Wet senile macular retinal degeneration" EXACT [] xref: ICD10CM:H35.32 xref: ICD9CM:362.52 xref: SNOMEDCT_US_2023_03_01:11290001 xref: UMLS_CUI:C0271084 is_a: DOID:2007 ! degeneration of macula and posterior pole [Term] id: DOID:10875 name: obsolete premature labor synonym: "LABOR PREMATURE" EXACT [] synonym: "Labour - premature" EXACT [] synonym: "premature labor" EXACT [] synonym: "Premature labor (finding)" EXACT [] synonym: "Premature labour" EXACT [] is_obsolete: true [Term] id: DOID:10877 name: obsolete disorganized type schizophrenia chronic state with acute exacerbation is_obsolete: true [Term] id: DOID:1088 name: meningocele def: "A spina bifida that is characterized by herniation of the meninges between the vertebrae." [url:https\://en.wikipedia.org/wiki/Spina_bifida#Meningocele] xref: SNOMEDCT_US_2023_03_01:268308005 xref: UMLS_CUI:C0025299 is_a: DOID:0080016 ! spina bifida property_value: exactMatch "MESH:D008588" xsd:string [Term] id: DOID:10880 name: iliac vein thrombophlebitis synonym: "Phlebitis and thrombophlebitis of the iliac vein" EXACT [] xref: ICD10CM:I80.21 xref: ICD9CM:451.81 xref: SNOMEDCT_US_2023_03_01:840713005 xref: UMLS_CUI:C0155772 is_a: DOID:3875 ! thrombophlebitis [Term] id: DOID:10881 name: hand, foot and mouth disease def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet." [url:http\://www.cdc.gov/ncidod/dvrd/revb/enterovirus/hfhf.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Vesicular stomatitis and exanthem" EXACT [] xref: ICD10CM:B08.4 xref: ICD9CM:074.3 xref: MESH:D006232 xref: NCI:C128439 xref: SNOMEDCT_US_2023_03_01:175497008 xref: UMLS_CUI:C0018572 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:10882 name: epidemic pleurodynia def: "A viral infectious disease that results in necrosis located in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache." [url:https\://www.merckmanuals.com/professional/infectious-diseases/enteroviruses/epidemic-pleurodynia] subset: DO_infectious_disease_slim synonym: "Bamble disease" EXACT [] synonym: "Bornholm disease" EXACT [] synonym: "devil's grip" EXACT [] synonym: "epidemic myalgia" EXACT [] synonym: "Epidemic pleurisy" EXACT [] synonym: "Epidemic, myositis" EXACT [] xref: ICD10CM:B33.0 xref: ICD9CM:074.1 xref: MESH:D011000 xref: SNOMEDCT_US_2023_03_01:83264000 xref: UMLS_CUI:C0032238 is_a: DOID:0080000 ! muscular disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:10883 name: herpangina def: "A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." [url:http\://en.wikipedia.org/wiki/Herpangina, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000969.htm] subset: DO_infectious_disease_slim synonym: "Vesicular pharyngitis" EXACT [] xref: ICD10CM:B08.5 xref: ICD9CM:074.0 xref: MESH:D006557 xref: SNOMEDCT_US_2023_03_01:154358007 xref: UMLS_CUI:C0019338 is_a: DOID:403 ! mouth disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:10887 name: lepromatous leprosy def: "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas." [url:https\://www.amjmed.com/article/S0002-9343(17)30612-5/fulltext] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease synonym: "type L leprosy" EXACT [] xref: ICD10CM:A30.5 xref: ICD9CM:030.0 xref: MESH:D015440 xref: SNOMEDCT_US_2023_03_01:21560005 xref: UMLS_CUI:C0023348 is_a: DOID:1024 ! leprosy [Term] id: DOID:1089 name: tethered spinal cord syndrome comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "spinal dysraphism" EXACT [] xref: GARD:4018 xref: SNOMEDCT_US_2023_03_01:282784007 xref: UMLS_CUI:C0560648 is_a: DOID:319 ! spinal cord disease property_value: exactMatch "NCI:C99080" xsd:string [Term] id: DOID:10892 name: hypospadias def: "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum." [url:http\://en.wikipedia.org/wiki/Hypospadias, url:http\://ghr.nlm.nih.gov/glossary=hypospadias] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "familial hypospadias" EXACT [] xref: ICD10CM:Q54 xref: MESH:D007021 xref: MIM:146450 xref: MIM:300633 xref: MIM:300758 xref: MIM:300856 xref: NCI:C40341 xref: ORDO:440 xref: SNOMEDCT_US_2023_03_01:156968008 xref: UMLS_CUI:C0848558 is_a: DOID:0080015 ! physical disorder [Term] id: DOID:10901 name: obsolete leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb synonym: "Leukemic reticuloendotheliosis involving lymph nodes of axilla and upper limb" EXACT [] synonym: "Leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb (disorder)" EXACT [] synonym: "Leukemic reticuloendotheliosis of lymph nodes of axilla and/or upper limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10902 name: obsolete pulmonary actinomycosis def: "An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000074.htm] subset: gram-positive_bacterial_infectious_disease synonym: "pulmonary actinomycotic infection" EXACT [] synonym: "thoracic actinomycosis" EXACT [] is_obsolete: true [Term] id: DOID:10907 name: microcephaly def: "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants." [url:https\://en.wikipedia.org/wiki/Microcephaly] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Microcephalus" EXACT [] synonym: "microencephaly" EXACT [] xref: GARD:3603 xref: GARD:7038 xref: ICD10CM:Q02 xref: ICD9CM:742.1 xref: MESH:D008831 xref: NCI:C85874 xref: SNOMEDCT_US_2023_03_01:156893009 xref: UMLS_CUI:C0025958 is_a: DOID:2490 ! congenital nervous system abnormality property_value: exactMatch "MESH:D008831" xsd:string [Term] id: DOID:10908 name: hydrocephalus def: "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head." [url:http\://en.wikipedia.org/wiki/Hydrocephalus, url:http\://ghr.nlm.nih.gov/glossary=hydrocephalus, url:http\://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706?_ga=1.124310025.2017809229.1415219956] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "hydrocephalus, nonsyndromic, autosomal recessive" EXACT [] synonym: "hydrocephalus, X-linked" EXACT [] xref: GARD:6682 xref: ICD10CM:G91 xref: MESH:D006849 xref: MIM:123155 xref: MIM:236600 xref: MIM:236635 xref: MIM:307000 xref: MIM:615219 xref: NCI:C3111 xref: ORDO:2182 xref: ORDO:2185 xref: SNOMEDCT_US_2023_03_01:267687006 xref: UMLS_CUI:C0020255 is_a: DOID:1443 ! cerebral degeneration [Term] id: DOID:1091 name: tooth disease def: "A mouth disease located_in the teeth." [url:https\://medlineplus.gov/toothdisorders.html] synonym: "teeth disease" EXACT [] xref: MESH:D014076 xref: SNOMEDCT_US_2023_03_01:367503003 xref: UMLS_CUI:C0040435 is_a: DOID:403 ! mouth disease [Term] id: DOID:10910 name: obsolete echovirus meningitis def: "A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5232a1.htm, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563715/pdf/60.pdf] is_obsolete: true [Term] id: DOID:10911 name: obsolete echovirus infectious disease def: "An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites." [url:http\://en.wikipedia.org/wiki/Echovirus] synonym: "Enteric cytopathic human orphan virus infection" RELATED [] is_obsolete: true [Term] id: DOID:10913 name: benign essential hypertension subset: NCIthesaurus xref: ICD9CM:401.1 xref: NCI:C3656 xref: SNOMEDCT_US_2023_03_01:194758001 xref: UMLS_CUI:C0155583 is_a: DOID:10825 ! essential hypertension [Term] id: DOID:10914 name: amnestic disorder alt_id: DOID:4544 def: "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information." [url:http\://en.wikipedia.org/wiki/Amnesia, url:http\://www.minddisorders.com/A-Br/Amnestic-disorders.html] subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "amnesia" EXACT [] synonym: "Amnestic syndrome" EXACT [] synonym: "Korsakoff's psychosis or syndrome" EXACT [] xref: ICD10CM:R41.3 xref: ICD9CM:294.0 xref: MESH:D000647 xref: NCI:C2867 xref: SNOMEDCT_US_2023_03_01:247606008 xref: SNOMEDCT_US_2023_03_01:3298001 xref: UMLS_CUI:C0002622 xref: UMLS_CUI:C0002625 is_a: DOID:1561 ! cognitive disorder [Term] id: DOID:10915 name: Wernicke-Korsakoff syndrome def: "A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency." [url:https\://en.wikipedia.org/wiki/Wernicke%E2%80%93Korsakoff_syndrome] comment: OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus synonym: "Korsakoff Syndrome" EXACT [] synonym: "Korsakoff's psychosis" EXACT [] synonym: "Korsakoff's syndrome" EXACT [] synonym: "Korsakov psychosis" EXACT [] synonym: "Korsakov's psychosis" EXACT [] xref: MESH:D020915 xref: MIM:277730 xref: NCI:C35764 xref: SNOMEDCT_US_2023_03_01:69482004 xref: UMLS_CUI:C0349464 is_a: DOID:0070313 ! thiamine deficiency disease [Term] id: DOID:10918 name: obsolete transsexuality with asexual history synonym: "Trans-sexualism with asexual history" EXACT [] synonym: "Transsexuality with asexual history (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:10919 name: obsolete transsexualism def: "A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex." [url:http\://en.wikipedia.org/wiki/Transsexualism] is_obsolete: true [Term] id: DOID:10921 name: Siberian tick typhus alt_id: DOID:0050054 alt_id: DOID:0050055 def: "A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash." [url:http\://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29, url:http\://www.cdc.gov/otherspottedfever/index.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "manchurian typhus" EXACT [] synonym: "North Asian tick fever" EXACT [] synonym: "North Asian tick typhus" EXACT [] synonym: "Rickettsia sibirica spotted fever" EXACT [] xref: ICD10CM:A77.2 xref: ICD9CM:082.2 xref: MESH:D000073605 xref: SNOMEDCT_US_2023_03_01:7692008 xref: UMLS_CUI:C0549160 is_a: DOID:11104 ! spotted fever [Term] id: DOID:10922 name: obsolete sickle-cell crisis synonym: "Hb-S disease with mention of crisis" EXACT [] synonym: "Hemoglobin S disease with crisis (disorder)" EXACT [] synonym: "Hemoglobin SS disease with crisis (disorder)" EXACT [] synonym: "Sickle cell anemia with crisis (disorder)" EXACT [] synonym: "sickle cell crisis" EXACT [] is_obsolete: true [Term] id: DOID:10923 name: sickle cell anemia alt_id: DOID:12924 alt_id: DOID:13024 def: "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain." [url:https\://en.wikipedia.org/wiki/Sickle_cell_disease, url:https\://ghr.nlm.nih.gov/condition/sickle-cell-disease, url:https\://www.nhlbi.nih.gov/health-topics/sickle-cell-disease] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "drepanocytosis" EXACT [] synonym: "haemoglobin SC disease" EXACT [] synonym: "Hb SC disease" EXACT [] synonym: "Hb-S/Hb-C disease" EXACT [] synonym: "Hb-SS disease without crisis" EXACT [] synonym: "HbSS disease" EXACT [] synonym: "Hemoglobin S disease without crisis" EXACT [] synonym: "hemoglobin SC disease" EXACT [] synonym: "homozygous sickle cell disease" EXACT [] synonym: "sickle cell anaemia" EXACT [] synonym: "Sickle-cell/Hb-C disease without crisis" EXACT [] xref: GARD:8614 xref: ICD10CM:D57.1 xref: ICD10CM:D57.2 xref: ICD9CM:282.6 xref: ICD9CM:282.63 xref: MESH:D000755 xref: MESH:D006450 xref: NCI:C34383 xref: NCI:C34676 xref: ORDO:232 xref: SNOMEDCT_US_2023_03_01:154798006 xref: SNOMEDCT_US_2023_03_01:35434009 xref: UMLS_CUI:C0002895 xref: UMLS_CUI:C0019034 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081445 ! sickle cell disease is_a: DOID:2355 ! anemia [Term] id: DOID:10924 name: obsolete catatonic type schizophrenia chronic state is_obsolete: true [Term] id: DOID:10925 name: obsolete catatonic schizophrenia is_obsolete: true [Term] id: DOID:10927 name: gastrojejunal ulcer alt_id: DOID:10926 alt_id: DOID:10928 alt_id: DOID:10929 alt_id: DOID:12230 alt_id: DOID:12232 alt_id: DOID:14085 alt_id: DOID:14137 alt_id: DOID:9522 alt_id: DOID:9523 alt_id: DOID:9524 synonym: "acute gastrojejunal ulcer with hemorrhage" EXACT [] synonym: "acute gastrojejunal ulcer with hemorrhage AND obstruction" EXACT [] synonym: "acute gastrojejunal ulcer with hemorrhage AND perforation" EXACT [] synonym: "acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction" EXACT [] synonym: "acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction" EXACT [] synonym: "acute gastrojejunal ulcer with perforation" EXACT [] synonym: "acute gastrojejunal ulcer with perforation AND obstruction" EXACT [] synonym: "acute gastrojejunal ulcer with perforation, with obstruction" EXACT [] synonym: "acute gastrojejunal ulcer without hemorrhage AND without perforation" EXACT [] synonym: "acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction" EXACT [] synonym: "acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [] synonym: "acute gastrojejunal ulcer, with hemorrhage, with obstruction" EXACT [] synonym: "chronic gastrojejunal ulcer without hemorrhage AND without perforation" EXACT [] synonym: "chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction" EXACT [] synonym: "chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [] xref: ICD10CM:K28.0 xref: ICD9CM:534.0 xref: SNOMEDCT_US_2023_03_01:196709002 xref: UMLS_CUI:C0156042 is_a: DOID:750 ! peptic ulcer disease [Term] id: DOID:10930 name: borderline personality disorder def: "A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods." [url:http\://en.wikipedia.org/wiki/Borderline_personality_disorder] subset: NCIthesaurus xref: ICD10CM:F60.3 xref: ICD9CM:301.83 xref: MESH:D001883 xref: NCI:C92633 xref: SNOMEDCT_US_2023_03_01:20010003 xref: UMLS_CUI:C0006012 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10931 name: dependent personality disorder def: "A personality disorder that is characterized by a pervasive psychological dependence on other people." [url:http\://en.wikipedia.org/wiki/Dependent_personality_disorder] subset: NCIthesaurus xref: ICD10CM:F60.7 xref: ICD9CM:301.6 xref: MESH:D003859 xref: NCI:C92637 xref: SNOMEDCT_US_2023_03_01:192492003 xref: UMLS_CUI:C0011548 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10932 name: obsessive-compulsive personality disorder def: "A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency." [url:http\://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder] subset: NCIthesaurus synonym: "Anankastic personality disorder" RELATED [] synonym: "OCPD" EXACT OMO:0003012 [] xref: ICD10CM:F60.5 xref: ICD9CM:301.4 xref: MESH:D003193 xref: NCI:C92638 xref: SNOMEDCT_US_2023_03_01:191761001 xref: UMLS_CUI:C0009595 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10933 name: obsessive-compulsive disorder def: "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions)." [url:https\://www.nimh.nih.gov/health/topics/obsessive-compulsive-disorder-ocd/index.shtml] subset: NCIthesaurus synonym: "Anancastic neurosis" EXACT [] synonym: "obsessive compulsive disorder" EXACT [] xref: ICD10CM:F42 xref: ICD9CM:300.3 xref: MESH:D009771 xref: NCI:C88411 xref: SNOMEDCT_US_2023_03_01:71478004 xref: UMLS_CUI:C0028768 is_a: DOID:2030 ! anxiety disorder [Term] id: DOID:10934 name: multiple personality disorder def: "A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities." [url:http\://en.wikipedia.org/wiki/Dissociative_identity_disorder] subset: NCIthesaurus synonym: "Dissociative identity disorder" EXACT [] xref: ICD10CM:F44.81 xref: ICD9CM:300.14 xref: MESH:D009105 xref: NCI:C94330 xref: SNOMEDCT_US_2023_03_01:31611000 xref: UMLS_CUI:C0026773 is_a: DOID:10935 ! dissociative disorder [Term] id: DOID:10935 name: dissociative disorder alt_id: DOID:4963 def: "A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated)." [url:https\://www.mayoclinic.org/diseases-conditions/dissociative-disorders/symptoms-causes/syc-20355215] subset: NCIthesaurus synonym: "dissociative disease" EXACT [] synonym: "dissociative reaction" EXACT [] xref: ICD10CM:F44.9 xref: ICD10CM:F48.9 xref: ICD9CM:300.15 xref: ICD9CM:300.9 xref: MESH:D004213 xref: NCI:C92197 xref: SNOMEDCT_US_2023_03_01:154883004 xref: UMLS_CUI:C0012746 xref: UMLS_CUI:C0041857 is_a: DOID:150 ! disease of mental health [Term] id: DOID:10936 name: schizoid personality disorder def: "A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world." [url:http\://en.wikipedia.org/wiki/Schizoid_personality_disorder] subset: NCIthesaurus xref: ICD10CM:F60.1 xref: ICD9CM:301.2 xref: MESH:D012557 xref: NCI:C92631 xref: SNOMEDCT_US_2023_03_01:192486009 xref: UMLS_CUI:C0036339 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10937 name: impulse control disorder def: "A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others." [url:https\://en.wikipedia.org/wiki/Impulse_control_disorder] subset: NCIthesaurus xref: ICD10CM:F63.9 xref: ICD9CM:312.30 xref: MESH:D007174 xref: NCI:C34723 xref: SNOMEDCT_US_2023_03_01:192098008 xref: UMLS_CUI:C0021122 is_a: DOID:150 ! disease of mental health [Term] id: DOID:10938 name: paranoid personality disorder def: "A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others." [url:http\://en.wikipedia.org/wiki/Paranoid_personality_disorder] subset: NCIthesaurus xref: ICD10CM:F60.0 xref: ICD9CM:301.0 xref: MESH:D010260 xref: NCI:C92630 xref: SNOMEDCT_US_2023_03_01:270529002 xref: UMLS_CUI:C0030477 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10939 name: antisocial personality disorder def: "A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood." [url:http\://en.wikipedia.org/wiki/Antisocial_personality_disorder] subset: NCIthesaurus synonym: "Asocial personality" EXACT [] synonym: "Dissocial personality disorder" EXACT [] synonym: "Psychopath.personality" EXACT [] synonym: "Psychopathic personality" EXACT [] synonym: "Psychopathic personality disorder" EXACT [] synonym: "sociopathic personality" EXACT [] xref: ICD10CM:F60.2 xref: ICD9CM:301.7 xref: MESH:D000987 xref: NCI:C88413 xref: SNOMEDCT_US_2023_03_01:191769004 xref: UMLS_CUI:C0003431 is_a: DOID:1510 ! personality disorder [Term] id: DOID:1094 name: attention deficit hyperactivity disorder alt_id: DOID:1093 def: "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age." [url:http\://en.wikipedia.org/wiki/Attention-Deficit_Hyperactivity_Disorder, url:https\://www.genome.gov/Genetic-Disorders/Attention-Deficit-Hyperactivity-Disorder] comment: Xref MGI. synonym: "ADHD" EXACT OMO:0003012 [] synonym: "attention deficit disorder" EXACT [] synonym: "hyperkinetic disorder" EXACT [] xref: EFO:0003888 xref: MESH:D001289 xref: MIM:143465 xref: MIM:608903 xref: MIM:608904 xref: MIM:608905 xref: MIM:608906 xref: MIM:612311 xref: MIM:612312 xref: SNOMEDCT_US_2023_03_01:229713001 xref: UMLS_CUI:C0041671 is_a: DOID:0060038 ! specific developmental disorder [Term] id: DOID:10941 name: intracranial aneurysm subset: NCIthesaurus synonym: "brain aneurysm" EXACT [] xref: EFO:0003870 xref: MESH:D002532 xref: NCI:C34458 xref: SNOMEDCT_US_2023_03_01:128609009 xref: UMLS_CUI:C0007766 is_a: DOID:3527 ! cerebral arterial disease [Term] id: DOID:10944 name: tongue disease def: "A mouth disease located_in the tongue." [url:https\://medlineplus.gov/tonguedisorders.html] subset: NCIthesaurus xref: ICD10CM:K14 xref: ICD9CM:529.9 xref: MESH:D014060 xref: NCI:C173793 xref: SNOMEDCT_US_2023_03_01:69244009 xref: UMLS_CUI:C0040409 is_a: DOID:403 ! mouth disease [Term] id: DOID:10952 name: nephritis def: "A kidney disease that is characterized by an inflammation of the kidneys." [url:https\://en.wikipedia.org/wiki/Nephritis] subset: NCIthesaurus xref: ICD10CM:N08 xref: MESH:D009393 xref: NCI:C26833 xref: SNOMEDCT_US_2023_03_01:52845002 xref: UMLS_CUI:C0027697 is_a: DOID:557 ! kidney disease [Term] id: DOID:10955 name: strongyloidiasis alt_id: DOID:0050008 def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis." [url:http\://en.wikipedia.org/wiki/Strongyloidiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "disseminated strongyloidiasis" EXACT [] synonym: "Infection by Strongyloides" EXACT [] xref: GARD:8195 xref: ICD10CM:B78 xref: ICD9CM:127.2 xref: MESH:D013322 xref: NCI:C128398 xref: SNOMEDCT_US_2023_03_01:1214006 xref: UMLS_CUI:C0038463 is_a: DOID:331 ! central nervous system disease is_a: DOID:37 ! skin disease is_a: DOID:5295 ! intestinal disease is_a: DOID:850 ! lung disease is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:10957 name: obsolete Enterobacter aerogenes intestinal infectious disease def: "An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers." [url:http\://emedicine.medscape.com/article/216845-overview] synonym: "intestinal infection due to aerobacter aerogenes" EXACT [] is_obsolete: true [Term] id: DOID:10958 name: obsolete Salmonella arizonae intestinal infectious disease def: "A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/14662995] subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "intestinal infectious disease due to arizona group of paracolon bacilli" EXACT [] is_obsolete: true [Term] id: DOID:10959 name: obsolete Escherichia coli intestinal infectious disease def: "A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting." [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/ecoli_o157h7/index.html, url:http\://www.who.int/mediacentre/factsheets/fs125/en/] subset: gram-negative_bacterial_infectious_disease synonym: "intestinal infectious disease due to Escherichia coli" EXACT [] is_obsolete: true [Term] id: DOID:10963 name: cholesteatoma of attic xref: ICD10CM:H71.0 xref: ICD9CM:385.31 xref: SNOMEDCT_US_2023_03_01:38708003 xref: UMLS_CUI:C0155489 is_a: DOID:10964 ! cholesteatoma of middle ear [Term] id: DOID:10964 name: cholesteatoma of middle ear alt_id: DOID:11433 subset: NCIthesaurus synonym: "Cholesteatoma of middle ear and mastoid" EXACT [] synonym: "Cholesteatoma of middle ear and/or mastoid" EXACT [] synonym: "Cholesteatoma of the middle ear" EXACT [] synonym: "Epidermosis of ear" EXACT [] synonym: "Epidermosis of middle ear" EXACT [] synonym: "middle ear cholesteatoma" EXACT [] xref: ICD10CM:H71 xref: ICD9CM:385.3 xref: ICD9CM:385.32 xref: MESH:D018424 xref: NCI:C3654 xref: SNOMEDCT_US_2023_03_01:39911004 xref: SNOMEDCT_US_2023_03_01:87688009 xref: UMLS_CUI:C0008374 xref: UMLS_CUI:C0155490 is_a: DOID:5100 ! middle ear disease is_a: DOID:869 ! cholesteatoma [Term] id: DOID:10965 name: spastic diplegia alt_id: DOID:3778 def: "A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk." [url:https\://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy] subset: NCIthesaurus synonym: "cerebral spastic infantile paralysis" EXACT [] synonym: "Diplegic infantile cerebral palsy" EXACT [] synonym: "infantile diplegic cerebral palsy" EXACT [] synonym: "Infantile spastic cerebral palsy" EXACT [] synonym: "Little's disease" EXACT [] synonym: "Littles disease" EXACT [] xref: ICD10CM:G80.1 xref: ICD9CM:343.0 xref: MESH:D002547 xref: NCI:C34781 xref: SNOMEDCT_US_2023_03_01:1178005 xref: SNOMEDCT_US_2023_03_01:275469001 xref: UMLS_CUI:C0023882 xref: UMLS_CUI:C0154695 is_a: DOID:0050669 ! spastic cerebral palsy [Term] id: DOID:10966 name: lipoid nephrosis subset: NCIthesaurus synonym: "Minimal change disease" EXACT [] synonym: "Minimal Change Glomerulonephritis" EXACT [] synonym: "Nephrotic syndrome with lesion of minimal change glomerulonephritis" EXACT [] synonym: "Nephrotic syndrome with lesion of minimal change nephrotic syndrome" EXACT [] xref: ICD10CM:N04 xref: MESH:D009402 xref: NCI:C34844 xref: SNOMEDCT_US_2023_03_01:197592009 xref: UMLS_CUI:C0027721 is_a: DOID:1184 ! nephrotic syndrome [Term] id: DOID:10967 name: spastic hemiplegia def: "A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally." [url:https\://www.cerebralpalsyguide.com/cerebral-palsy/types/spastic/] subset: DO_rare_slim synonym: "Congenital hemiplegia" EXACT [] synonym: "hemiplegic cerebral palsy" EXACT [] synonym: "Hemiplegic infantile cerebral palsy" EXACT [] synonym: "spastic hemiplegic cerebral palsy" EXACT [] xref: GARD:10448 xref: ICD9CM:343.1 xref: SNOMEDCT_US_2023_03_01:258714003 xref: UMLS_CUI:C0270805 is_a: DOID:0050669 ! spastic cerebral palsy [Term] id: DOID:10968 name: spastic monoplegia def: "A spastic cerebral palsy that affects only one limb." [url:http\://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic] subset: DO_rare_slim synonym: "infantile monoplegic cerebral palsy" EXACT [] synonym: "Monoplegic infantile cerebral palsy" EXACT [] synonym: "spastic monoplegic cerebral palsy" EXACT [] xref: GARD:10446 xref: ICD9CM:343.3 xref: MESH:D002547 xref: UMLS_CUI:C0154698 is_a: DOID:0050669 ! spastic cerebral palsy [Term] id: DOID:10969 name: hemiplegia def: "A central nervous system disease that is characterized by the complete paralysis of half of the body." [url:https\://en.wikipedia.org/wiki/Hemiparesis] subset: DO_rare_slim synonym: "Infantile hemiplegia" EXACT [] synonym: "Postnatal infantile hemiplegia" EXACT [] xref: GARD:6583 xref: ICD9CM:343.4 xref: MESH:D006429 xref: SNOMEDCT_US_2023_03_01:155024003 xref: UMLS_CUI:C0392550 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:1097 name: obsolete hydrops fetalis comment: Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis. {xref="url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hydrops%20fetalis"} is_obsolete: true [Term] id: DOID:10970 name: spastic quadriplegic cerebral palsy def: "A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking." [url:https\://cerebralpalsygroup.com/cerebral-palsy/spastic/] comment: Xref MGI. subset: DO_rare_slim synonym: "inherited congenital spastic quadriplegia" EXACT [] synonym: "inherited congenital spastic tetraplegia" EXACT [] synonym: "quadriplegic infantile cerebral palsy" EXACT [] synonym: "spastic quadriplegia" EXACT [] synonym: "tetraplegic infantile cerebral palsy" EXACT [] xref: GARD:10447 xref: ICD9CM:343.2 xref: MESH:D002547 xref: MIM:PS612900 xref: ORDO:210141 xref: SNOMEDCT_US_2023_03_01:192953000 xref: UMLS_CUI:C0154697 is_a: DOID:0050669 ! spastic cerebral palsy [Term] id: DOID:10971 name: acute salpingo-oophoritis synonym: "acute salpingitis and oophoritis" EXACT [] xref: ICD10CM:N70.03 xref: ICD9CM:614.0 xref: SNOMEDCT_US_2023_03_01:155969007 xref: UMLS_CUI:C0156327 is_a: DOID:10972 ! salpingo-oophoritis [Term] id: DOID:10972 name: salpingo-oophoritis subset: NCIthesaurus synonym: "Salpingitis/oophoritis" EXACT [] synonym: "Tubo-ovarian inflammatory disease" EXACT [] xref: ICD10CM:N70 xref: ICD9CM:614.2 xref: NCI:C171201 xref: SNOMEDCT_US_2023_03_01:46536000 xref: UMLS_CUI:C0036133 is_a: DOID:10974 ! oophoritis [Term] id: DOID:10973 name: acute salpingitis subset: NCIthesaurus xref: ICD10CM:N70.01 xref: NCI:C40120 xref: SNOMEDCT_US_2023_03_01:8912009 xref: UMLS_CUI:C0269038 is_a: DOID:5733 ! salpingitis [Term] id: DOID:10974 name: oophoritis def: "An ovarian disease that is characterized by inflammation of the ovary." [url:https\://en.wikipedia.org/wiki/Oophoritis] xref: ICD10CM:N70.92 xref: MESH:D009869 xref: SNOMEDCT_US_2023_03_01:266648001 xref: UMLS_CUI:C0029051 is_a: DOID:1100 ! ovarian disease [Term] id: DOID:10976 name: membranous glomerulonephritis subset: NCIthesaurus synonym: "membranous nephropathy" EXACT [] xref: EFO:0004254 xref: ICD10CM:N03.2 xref: MESH:D015433 xref: NCI:C34645 xref: SNOMEDCT_US_2023_03_01:197710000 xref: UMLS_CUI:C0017665 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:10978 name: obsolete poliovirus type III nonparalytic poliomyelitis def: "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms." [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf] synonym: "acute nonparalytic poliomyelitis poliovirus type III" EXACT [] is_obsolete: true [Term] id: DOID:10979 name: obsolete poliovirus type I nonparalytic poliomyelitis def: "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms." [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf] synonym: "acute nonparalytic poliomyelitis poliovirus type I" EXACT [] is_obsolete: true [Term] id: DOID:1098 name: hemolytic disease of the fetus def: "A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis." [url:https\://www.ncbi.nlm.nih.gov/books/NBK557423/] subset: NCIthesaurus synonym: "alloimmune HDFN" EXACT [] synonym: "EF - Erythroblastosis foetalis" EXACT [] synonym: "erythroblastosis fetalis" EXACT [] synonym: "fetal erythroblastosis" EXACT [] synonym: "Haemolytic disease due to rhesus isoimmunisation" EXACT [] synonym: "Hemolytic disease of the fetus and newborn" EXACT [] synonym: "rhesus isoimmunisation of the newborn" EXACT [] xref: ICD10CM:P55 xref: ICD9CM:773 xref: MESH:D004899 xref: NCI:C101304 xref: SNOMEDCT_US_2023_03_01:111468003 xref: UMLS_CUI:C0014761 is_a: DOID:11252 ! microcytic anemia [Term] id: DOID:10980 name: obsolete poliovirus type II nonparalytic poliomyelitis def: "A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms." [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf] synonym: "acute nonparalytic poliomyelitis poliovirus type II" EXACT [] is_obsolete: true [Term] id: DOID:10983 name: Alport syndrome def: "A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss." [url:http\://en.wikipedia.org/wiki/Alport_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_MGI_slim subset: DO_rare_slim synonym: "Hereditary Nephritis" EXACT [] xref: GARD:5785 xref: MESH:D009394 xref: ORDO:63 xref: SNOMEDCT_US_2023_03_01:57333009 xref: UMLS_CUI:C0027706 is_a: DOID:0050177 ! monogenic disease is_a: DOID:225 ! syndrome [Term] id: DOID:10986 name: discitis def: "A cartilage disease that is characterized by an infection of the intervertebral disc space." [url:https\://medlineplus.gov/ency/article/000993.htm, url:https\://www.ncbi.nlm.nih.gov/books/NBK541047] synonym: "diskitis" EXACT [] xref: ICD10CM:M46.4 xref: MESH:D015299 xref: SNOMEDCT_US_2023_03_01:2304001 xref: UMLS_CUI:C0012624 is_a: DOID:1222 ! cartilage disease [Term] id: DOID:10989 name: conjunctival vascular disease subset: NCIthesaurus synonym: "Conjunctival vascular abnormality" EXACT [] synonym: "vascular abnormalities of conjunctiva" EXACT [] xref: ICD10CM:H11.41 xref: ICD9CM:372.74 xref: NCI:C35116 xref: SNOMEDCT_US_2023_03_01:74100001 xref: UMLS_CUI:C0042370 is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:1099 name: alpha thalassemia def: "A thalassemia involving the genes HBA1and HBA2 hemoglobin genes." [url:http\://en.wikipedia.org/wiki/Alpha_Thalassemia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Alpha thalassaemia" EXACT [] synonym: "alpha-Thalassemia" EXACT [] xref: GARD:621 xref: ICD10CM:D56.0 xref: ICD9CM:282.43 xref: MESH:D017085 xref: MIM:604131 xref: NCI:C34368 xref: SNOMEDCT_US_2023_03_01:191186002 xref: UMLS_CUI:C0002312 is_a: DOID:10241 ! thalassemia [Term] id: DOID:10991 name: basal ganglia cerebrovascular disease xref: MESH:D020144 xref: UMLS_CUI:C0751739 is_a: DOID:6713 ! cerebrovascular disease property_value: exactMatch "MESH:D020144" xsd:string [Term] id: DOID:10992 name: acute hemorrhagic leukoencephalitis def: "A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema." [url:http\://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis#Acute_hemorrhagic_leukoencephalitis, url:http\://rarediseases.info.nih.gov/gard/8629/acute-hemorrhagic-leukoencephalitis/resources/1] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "acute haemorrhagic leucoencephalitis of Weston Hurst" EXACT [] synonym: "acute hemorrhagic encephalomyelitis" EXACT [] synonym: "acute necrotizing hemorrhagic leukoencephalitis" EXACT [] synonym: "AHL" EXACT OMO:0003012 [] synonym: "Weston-Hurst syndrome" EXACT [] xref: GARD:8629 xref: MESH:D004684 xref: MIM:606752 xref: NCI:C84535 xref: SNOMEDCT_US_2023_03_01:72986009 xref: UMLS_CUI:C0014077 is_a: DOID:639 ! acute disseminated encephalomyelitis [Term] id: DOID:10993 name: postinfectious encephalitis def: "An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occurring two to three weeks after the initial infection." [url:https\://www.mayoclinic.org/diseases-conditions/encephalitis/symptoms-causes/syc-20356136] synonym: "Postinfective encephalitis" EXACT [] synonym: "secondary encephalitis" EXACT [] is_a: DOID:0060004 ! autoimmune disease of central nervous system is_a: DOID:9588 ! encephalitis [Term] id: DOID:10997 name: immature cataract def: "A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining." [url:https\://en.wikipedia.org/wiki/Cataract] synonym: "Incipient cataract" EXACT [] synonym: "Incipient senile cataract" EXACT [] synonym: "Water clefts" EXACT [] xref: ICD10CM:H25.09 xref: SNOMEDCT_US_2023_03_01:52421005 xref: UMLS_CUI:C0271163 is_a: DOID:9669 ! senile cataract [Term] id: DOID:10998 name: obsolete chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis is_obsolete: true [Term] id: DOID:110 name: lens disease def: "An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye." [url:https\://en.wikipedia.org/wiki/Lens_(anatomy)] subset: NCIthesaurus xref: ICD10CM:H27.9 xref: MESH:D007905 xref: NCI:C26812 xref: SNOMEDCT_US_2023_03_01:194613002 xref: UMLS_CUI:C0023308 is_a: DOID:5614 ! eye disease [Term] id: DOID:1100 name: ovarian disease def: "A female reproductive system disease that is located_in the ovary." [url:https\://medlineplus.gov/ovariandisorders.html] subset: NCIthesaurus xref: MESH:D010049 xref: NCI:C26841 xref: SNOMEDCT_US_2023_03_01:5552004 xref: UMLS_CUI:C0029928 is_a: DOID:2277 ! gonadal disease is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:11000 name: obsolete progressive iris atrophy synonym: "Essential iris atrophy (disorder)" EXACT [] synonym: "Essential or progressive iris atrophy" EXACT [] is_obsolete: true [Term] id: DOID:11001 name: obsolete Iris and ciliary body degeneration is_obsolete: true [Term] id: DOID:11002 name: obsolete Iridoschisis synonym: "Iridoschisis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11003 name: obsolete pupillary margin miotic cyst synonym: "Miotic cyst of pupillary margin (disorder)" EXACT [] synonym: "Miotic cysts of pupillary margin" EXACT [] is_obsolete: true [Term] id: DOID:11005 name: obsolete Atrophy of sphincter of iris synonym: "degeneration of pupillary margin" EXACT [] synonym: "degeneration of pupillary margin (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11014 name: anorectal stricture synonym: "Stenosis of rectum and anus" EXACT [] xref: SNOMEDCT_US_2023_03_01:68627009 xref: UMLS_CUI:C0156183 is_a: DOID:3128 ! anus disease [Term] id: DOID:11018 name: obsolete postsurgical testicular hypofunction synonym: "Post-surgical testicular hypofunction (disorder)" EXACT [] synonym: "Postablative testicular hypofunction" EXACT [] synonym: "Postablative testicular hypofunction (disorder)" EXACT [] synonym: "Postablative testicular hypofunction NOS (disorder)" EXACT [] synonym: "Postsurgical testicular hypofunction (disorder) [Ambiguous]" EXACT [] is_obsolete: true [Term] id: DOID:11019 name: obsolete testicular dysfunction is_obsolete: true [Term] id: DOID:11020 name: obsolete chronic glomerulonephritis with lesion of proliferative glomerulonephritis synonym: "chronic glomerulonephritis with lesion of proliferative glomerulonephritis" EXACT [] is_obsolete: true [Term] id: DOID:11027 name: obsolete chronic glomerulonephritis with lesion of membranous glomerulonephritis synonym: "chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis" EXACT [] is_obsolete: true [Term] id: DOID:11028 name: pseudopterygium xref: ICD9CM:372.52 xref: SNOMEDCT_US_2023_03_01:66139007 xref: UMLS_CUI:C0155161 is_a: DOID:10124 ! corneal disease [Term] id: DOID:11029 name: pinguecula subset: NCIthesaurus xref: ICD10CM:H11.15 xref: ICD9CM:372.51 xref: MESH:D059407 xref: NCI:C129468 xref: SNOMEDCT_US_2023_03_01:267735001 xref: UMLS_CUI:C0152255 is_a: DOID:10139 ! conjunctival degeneration [Term] id: DOID:1103 name: obsolete malignant esophageal neoplasm by topographic region is_obsolete: true [Term] id: DOID:11030 name: corneal edema subset: NCIthesaurus synonym: "Corneal oedema" EXACT [] xref: ICD10CM:H18.20 xref: ICD9CM:371.2 xref: MESH:D015715 xref: NCI:C50508 xref: SNOMEDCT_US_2023_03_01:193811006 xref: UMLS_CUI:C0010037 is_a: DOID:10124 ! corneal disease [Term] id: DOID:11031 name: bullous keratopathy subset: NCIthesaurus xref: ICD10CM:H18.1 xref: ICD9CM:371.23 xref: NCI:C26970 xref: SNOMEDCT_US_2023_03_01:193815002 xref: UMLS_CUI:C0155111 is_a: DOID:11030 ! corneal edema [Term] id: DOID:11032 name: secondary corneal edema xref: ICD10CM:H18.23 xref: ICD9CM:371.22 xref: SNOMEDCT_US_2023_03_01:193814003 xref: UMLS_CUI:C0155110 is_a: DOID:11030 ! corneal edema [Term] id: DOID:11033 name: idiopathic corneal edema xref: ICD10CM:H18.22 xref: ICD9CM:371.21 xref: SNOMEDCT_US_2023_03_01:193813009 xref: UMLS_CUI:C0155109 is_a: DOID:11030 ! corneal edema [Term] id: DOID:11034 name: contact lens corneal edema xref: ICD9CM:371.24 xref: SNOMEDCT_US_2023_03_01:49362009 xref: UMLS_CUI:C0474442 is_a: DOID:11030 ! corneal edema [Term] id: DOID:11036 name: chronic rapidly progressive glomerulonephritis synonym: "chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis" EXACT [] xref: ICD9CM:582.4 xref: SNOMEDCT_US_2023_03_01:197614002 xref: UMLS_CUI:C0341694 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:11037 name: dissociative amnesia def: "A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress." [url:https\://www.merckmanuals.com/professional/psychiatric-disorders/dissociative-disorders/dissociative-amnesia] subset: NCIthesaurus synonym: "psychogenic amnesia" EXACT [] xref: ICD10CM:F44.0 xref: ICD9CM:300.12 xref: MESH:D000647 xref: NCI:C94328 xref: SNOMEDCT_US_2023_03_01:192420000 xref: UMLS_CUI:C0236795 is_a: DOID:10935 ! dissociative disorder [Term] id: DOID:11038 name: depersonalization disorder def: "A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization." [url:http\://en.wikipedia.org/wiki/Depersonalization_disorder] subset: DO_rare_slim subset: NCIthesaurus synonym: "Neurotic derealization" EXACT [] xref: GARD:6260 xref: ICD9CM:300.6 xref: MESH:D003861 xref: NCI:C94331 xref: SNOMEDCT_US_2023_03_01:70764005 xref: UMLS_CUI:C0683416 is_a: DOID:10935 ! dissociative disorder [Term] id: DOID:11042 name: Felty's syndrome def: "A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." [url:http\://en.wikipedia.org/wiki/Felty%27s_syndrome, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000445.htm] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Felty syndrome" EXACT [] synonym: "Rheumatoid arthritis with splenoadenomegaly and leukopenia" EXACT [] xref: GARD:8234 xref: ICD10CM:M05.0 xref: ICD9CM:714.1 xref: MESH:D005258 xref: MIM:134750 xref: NCI:C84712 xref: SNOMEDCT_US_2023_03_01:57160007 xref: UMLS_CUI:C0015773 is_a: DOID:225 ! syndrome is_a: DOID:417 ! autoimmune disease [Term] id: DOID:11044 name: gastroschisis comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:8661 xref: ICD10CM:Q79.3 xref: ICD9CM:756.73 xref: MESH:D020139 xref: MIM:230750 xref: NCI:C84725 xref: SNOMEDCT_US_2023_03_01:72951007 xref: UMLS_CUI:C0265706 is_a: DOID:0080015 ! physical disorder [Term] id: DOID:11049 name: meconium aspiration syndrome def: "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery." [url:https\://pubmed.ncbi.nlm.nih.gov/27206687/] subset: DO_rare_slim subset: NCIthesaurus synonym: "meconium aspiration" EXACT [] synonym: "Neonatal aspiration of meconium" EXACT [] xref: GARD:10494 xref: ICD10CM:P24.01 xref: MESH:D008471 xref: NCI:C87093 xref: SNOMEDCT_US_2023_03_01:85779008 xref: UMLS_CUI:C0025048 is_a: DOID:850 ! lung disease [Term] id: DOID:1105 name: obsolete esophageal metastasis synonym: "metastatic tumor to the esophagus" EXACT [] is_obsolete: true [Term] id: DOID:11054 name: urinary bladder cancer alt_id: DOID:5428 def: "An urinary system cancer that results_in malignant growth located_in the urinary bladder." [url:http\://en.wikipedia.org/wiki/Bladder_cancer] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_CFDE_slim subset: DO_RAD_slim subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "bladder cancer" EXACT [] synonym: "tumor of the bladder" EXACT [] xref: GARD:12210 xref: ICD10CM:C67 xref: ICD9CM:188 xref: KEGG:05219 xref: MESH:D001749 xref: MIM:109800 xref: NCI:C2901 xref: NCI:C9334 xref: SNOMEDCT_US_2023_03_01:126885006 xref: SNOMEDCT_US_2023_03_01:363455001 xref: UMLS_CUI:C0005684 xref: UMLS_CUI:C0005695 is_a: DOID:365 ! bladder disease is_a: DOID:3996 ! urinary system cancer [Term] id: DOID:11055 name: pasteurellosis def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia." [url:http\://en.wikipedia.org/wiki/Pasteurellosis] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Pasteurella infection" EXACT [] synonym: "Pasteurella infectious disease" EXACT [] xref: ICD10CM:A28.0 xref: ICD9CM:027.2 xref: MESH:D010326 xref: SNOMEDCT_US_2023_03_01:276199008 xref: UMLS_CUI:C0030636 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:11056 name: obsolete Pasteurella hemorrhagic septicemia subset: GOLD subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "hemorrhagic septicemia" EXACT [] is_obsolete: true [Term] id: DOID:1106 name: esophagus lymphoma subset: NCIthesaurus synonym: "Lymphoma of esophagus" EXACT [] synonym: "Lymphoma of oesophagus" EXACT [] synonym: "oesophagus lymphoma" EXACT [] xref: NCI:C5687 xref: UMLS_CUI:C1333459 is_a: DOID:0060058 ! lymphoma is_a: DOID:5041 ! esophageal cancer [Term] id: DOID:11060 name: placenta praevia def: "A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix." [url:http\://en.wikipedia.org/wiki/Placenta_previa] subset: NCIthesaurus xref: ICD10CM:O44 xref: MESH:D010923 xref: NCI:C26858 xref: SNOMEDCT_US_2023_03_01:157059004 xref: UMLS_CUI:C0032046 is_a: DOID:780 ! placenta disease [Term] id: DOID:1107 name: esophageal carcinoma def: "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Esophageal_cancer] subset: DO_cancer_slim subset: NCIthesaurus synonym: "cancer of esophagus" EXACT [] synonym: "cancer of oesophagus" EXACT [] synonym: "carcinoma of esophagus" EXACT [] synonym: "carcinoma of oesophagus" EXACT [] xref: EFO:0002916 xref: NCI:C3513 xref: SNOMEDCT_US_2023_03_01:255079005 xref: UMLS_CUI:C0152018 is_a: DOID:305 ! carcinoma is_a: DOID:5041 ! esophageal cancer [Term] id: DOID:11074 name: obsolete cyst of thyroid synonym: "Cyst of the Thyroid gland" EXACT [] synonym: "Cyst of thyroid" EXACT [] synonym: "Cyst of thyroid (disorder)" EXACT [] synonym: "Thyroid cyst" EXACT [] is_obsolete: true [Term] id: DOID:11076 name: Brucella suis brucellosis def: "A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5822a3.htm] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease is_a: DOID:11077 ! brucellosis [Term] id: DOID:11077 name: brucellosis alt_id: DOID:0050060 def: "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue." [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Bang's disease" RELATED [] synonym: "Gibraltar fever" RELATED [] synonym: "Malta fever" RELATED [] synonym: "Maltese fever" EXACT [] synonym: "Mediterranean fever" RELATED [] synonym: "undulant fever" EXACT [] xref: GARD:5966 xref: ICD10CM:A23 xref: ICD9CM:023 xref: MESH:D002006 xref: NCI:C84602 xref: SNOMEDCT_US_2023_03_01:154296006 xref: UMLS_CUI:C0006309 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:11079 name: leech infestation def: "A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream." [url:http\://en.wikipedia.org/wiki/Leech, url:http\://www.plosone.org/article/info\:doi/10.1371/journal.pone.0010057] subset: DO_infectious_disease_slim synonym: "Hirudiniasis" EXACT [] synonym: "Leeches" EXACT [] xref: ICD10CM:B88.3 xref: ICD9CM:134.2 xref: SNOMEDCT_US_2023_03_01:154423006 xref: UMLS_CUI:C0019575 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease [Term] id: DOID:1108 name: esophagus melanoma subset: NCIthesaurus synonym: "melanoma of esophagus" EXACT [] synonym: "melanoma of oesophagus" EXACT [] synonym: "oesophagus melanoma" EXACT [] xref: NCI:C5707 xref: UMLS_CUI:C1333460 is_a: DOID:5041 ! esophageal cancer [Term] id: DOID:11080 name: myiasis def: "A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue." [url:http\://en.wikipedia.org/wiki/Myiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Infestation by fly larvae" EXACT [] synonym: "Infestation by maggots" EXACT [] synonym: "Maggot infestation" EXACT [] xref: ICD10CM:B87 xref: ICD9CM:134.0 xref: MESH:D009198 xref: NCI:C128400 xref: SNOMEDCT_US_2023_03_01:266225001 xref: UMLS_CUI:C0027030 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease [Term] id: DOID:11086 name: chorioretinal scar xref: ICD10CM:H31.0 xref: ICD9CM:363.3 xref: SNOMEDCT_US_2023_03_01:53854005 xref: UMLS_CUI:C0008512 is_a: DOID:5679 ! retinal disease [Term] id: DOID:11088 name: asphyxia neonatorum def: "A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain." [url:https\://en.wikipedia.org/wiki/Perinatal_asphyxia] subset: DO_rare_slim synonym: "Asphyxia - birth" EXACT [] synonym: "Asphyxia, in liveborn infant" EXACT [] synonym: "Birth asphyxia" EXACT [] synonym: "postnatal asphyxia" EXACT [] xref: GARD:5857 xref: ICD10CM:P84 xref: ICD9CM:768.9 xref: MESH:D001238 xref: SNOMEDCT_US_2023_03_01:413654009 xref: UMLS_CUI:C0004045 is_a: DOID:1579 ! respiratory system disease property_value: exactMatch "MESH:D001238" xsd:string [Term] id: DOID:1109 name: obsolete extracutaneous melanoma is_obsolete: true [Term] id: DOID:11091 name: obsolete perinatal respiratory disorder synonym: "Perinatal respiratory problems NOS" EXACT [] synonym: "Perinatal respiratory problems NOS (disorder)" EXACT [] synonym: "respiratory condition of fetus OR newborn (disorder)" EXACT [] synonym: "Unspecified respiratory condition of fetus and newborn" EXACT [] is_obsolete: true [Term] id: DOID:11092 name: obsolete Salmonella gastroenteritis def: "A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/12631900] subset: GOLD subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Enteric paratyphosis" EXACT [] synonym: "Salmonella food poisoning" EXACT [] synonym: "Salmonella food poisoning (disorder)" EXACT [] synonym: "Salmonella gastroenteritis" EXACT [] synonym: "Salmonella gastroenteritis (disorder)" EXACT [] synonym: "Salmonella gastroenteritis [Ambiguous]" EXACT [] synonym: "Salmonellosis" EXACT [] synonym: "Salmonellosis (& [gastroenteritis] or [food poisoning])" EXACT [] is_obsolete: true [Term] id: DOID:11093 name: obsolete bacterial gastroenteritis alt_id: DOID:0050128 def: "A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000254.htm] synonym: "bacterial diarrhea" EXACT [] synonym: "Bacterial gastroenteritis (disorder)" EXACT [] synonym: "Gastroenteritis - bact." EXACT [] is_obsolete: true [Term] id: DOID:11096 name: obsolete renal syphilis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilis of kidney" EXACT [] synonym: "Syphilis of kidney (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11097 name: obsolete pulmonary syphilis def: "A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever." [url:http\://sti.bmj.com/cgi/reprint/4/4/290.pdf, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1707740/pdf/canmedaj00442-0068.pdf] subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilis of lung (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11099 name: obsolete primary Rickettsiaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:1110 name: obsolete gastrointestinal melanoma is_obsolete: true [Term] id: DOID:11100 name: Q fever def: "A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia." [url:http\://en.wikipedia.org/wiki/Q_fever, url:http\://www.cdc.gov/qfever/symptoms/index.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/15021054] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Infection due to Coxiella burnetii" EXACT [] xref: GARD:7515 xref: ICD10CM:A78 xref: ICD9CM:083.0 xref: MESH:D011778 xref: NCI:C34970 xref: SNOMEDCT_US_2023_03_01:266205000 xref: UMLS_CUI:C0034362 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:11101 name: trench fever def: "A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back." [url:http\://en.wikipedia.org/wiki/Trench_fever] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease synonym: "His-Werner disease" EXACT [] synonym: "Quintan fever" EXACT [] synonym: "shin bone fever" EXACT [] synonym: "tibialgic fever" EXACT [] synonym: "Wolhynian fever" EXACT [] xref: ICD10CM:A79.0 xref: ICD9CM:083.1 xref: MESH:D014205 xref: SNOMEDCT_US_2023_03_01:82214002 xref: UMLS_CUI:C0040830 is_a: DOID:11102 ! bartonellosis property_value: exactMatch "MESH:D014205" xsd:string [Term] id: DOID:11102 name: bartonellosis def: "A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella." [url:https\://en.wikipedia.org/wiki/Bartonellosis] subset: DO_infectious_disease_slim subset: GOLD subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus synonym: "Bartonella infectious disease" EXACT [] synonym: "bartonelliasis" EXACT [] synonym: "Rochalimaea infection" EXACT [] xref: ICD10CM:A44 xref: ICD9CM:088.0 xref: MESH:D001474 xref: NCI:C84586 xref: SNOMEDCT_US_2023_03_01:17116008 xref: UMLS_CUI:C0004771 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:11103 name: rickettsialpox alt_id: DOID:0050037 def: "A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash." [url:http\://www.cdc.gov/otherspottedfever/index.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Rickettsia akari spotted fever" EXACT [] synonym: "Vesicular rickettsiosis" EXACT [] xref: ICD10CM:A79.1 xref: ICD9CM:083.2 xref: MESH:D000073605 xref: SNOMEDCT_US_2023_03_01:75096007 xref: UMLS_CUI:C0035597 is_a: DOID:11104 ! spotted fever [Term] id: DOID:11104 name: spotted fever def: "A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite." [url:http\://www.cdc.gov/otherspottedfever/index.html] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease synonym: "Spotted fever group rickettsial disease" EXACT [] xref: GARD:4998 xref: ICD10CM:A77.9 xref: ICD9CM:082.0 xref: MESH:D000073605 xref: SNOMEDCT_US_2023_03_01:186771002 xref: UMLS_CUI:C0038041 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:11105 name: fundus albipunctatus def: "A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement." [url:http\://www.omim.org/entry/136880] comment: OMIM mapping confirmed by DO. [SN]. synonym: "Pigmentary retinal dystrophy" EXACT [] synonym: "retinitis punctata albescens" EXACT [] xref: MESH:C562733 xref: MIM:136880 xref: SNOMEDCT_US_2023_03_01:68222009 xref: UMLS_CUI:C0311338 is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:11106 name: obsolete glaucoma associated with anterior segment anomaly synonym: "Glaucoma associated with anterior segment anomaly (disorder)" EXACT [] synonym: "Glaucoma associated with other anterior segment anomalies" EXACT [] is_obsolete: true [Term] id: DOID:11107 name: obsolete glaucoma associated with ocular disorder is_obsolete: true [Term] id: DOID:1111 name: obsolete malignant neoplasm of cervical part of esophagus synonym: "malignant neoplasm of cervical esophagus" EXACT [] synonym: "malignant neoplasm of cervical oesophagus" EXACT [] synonym: "malignant neoplasm of the cervical esophagus" EXACT [] synonym: "malignant tumor of cervical part of esophagus (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11110 name: obsolete psychosexual dysfunction with female orgasmic disease is_obsolete: true [Term] id: DOID:11111 name: hydronephrosis subset: NCIthesaurus xref: ICD10CM:N13.30 xref: ICD9CM:591 xref: MESH:D006869 xref: NCI:C26796 xref: SNOMEDCT_US_2023_03_01:155866001 xref: UMLS_CUI:C0020295 is_a: DOID:5200 ! urinary tract obstruction [Term] id: DOID:11118 name: obsolete syphilitic retrobulbar neuritis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilitic retrobulbar neuritis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11119 name: Gilles de la Tourette syndrome def: "A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year." [url:http\://en.wikipedia.org/wiki/Tic_disorder, url:http\://en.wikipedia.org/wiki/Tourette%27s_disorder] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Guinon's disease" EXACT [] synonym: "motor-verbal tic disorder" EXACT [] synonym: "Psychogenic tics" EXACT [] synonym: "Tourette syndrome" EXACT [] xref: EFO:0004895 xref: GARD:7783 xref: ICD10CM:F95.2 xref: ICD9CM:307.23 xref: MESH:D005879 xref: MIM:137580 xref: NCI:C35078 xref: SNOMEDCT_US_2023_03_01:5158005 xref: UMLS_CUI:C0040517 is_a: DOID:2769 ! tic disorder [Term] id: DOID:1112 name: obsolete neck cancer synonym: "cancer of neck" RELATED [] synonym: "malignant neoplasm of neck" EXACT [] synonym: "malignant neoplasm of neck NOS (disorder)" EXACT [] synonym: "malignant tumor of neck (disorder)" EXACT [] synonym: "malignant tumor of the neck" EXACT [] synonym: "neck cancer" EXACT [] is_obsolete: true [Term] id: DOID:11120 name: psychologic dyspareunia synonym: "Dyspareunia, psychogenic" EXACT [] synonym: "Non-organic dyspareunia" EXACT [] xref: ICD10CM:F52.6 xref: ICD9CM:302.76 xref: SNOMEDCT_US_2023_03_01:41021005 xref: UMLS_CUI:C0154466 is_a: DOID:10132 ! psychosexual disorder [Term] id: DOID:11121 name: pulpitis def: "A dental pulp disease characterized by inflammation." [url:https\://www.ada.org/publications/cdt/glossary-of-dental-clinical-terms, url:https\://www.merckmanuals.com/professional/dental-disorders/common-dental-disorders/pulpitis] subset: NCIthesaurus synonym: "pulp stones" EXACT [] xref: ICD10CM:K04.0 xref: ICD9CM:522.0 xref: MESH:D011671 xref: NCI:C52595 xref: SNOMEDCT_US_2023_03_01:155638006 xref: UMLS_CUI:C0034103 is_a: DOID:5330 ! dental pulp disease [Term] id: DOID:11123 name: Henoch-Schoenlein purpura def: "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection." [url:https\://rarediseases.info.nih.gov/diseases/8204/henoch-schonlein-purpura] subset: DO_rare_slim subset: NCIthesaurus synonym: "Allergic purpura" EXACT [] synonym: "Autoimmune purpura" EXACT [] synonym: "Henoch-Sch?nlein purpura" EXACT [] synonym: "Henoch-Sch@nlein purpura" EXACT [] synonym: "Henoch-Scholein purpura" EXACT [] synonym: "Henoch-Schonlein Purpura" EXACT [] synonym: "Purpura, autoimmune" EXACT [] xref: GARD:8204 xref: ICD10CM:D69.0 xref: ICD9CM:287.0 xref: MESH:D011695 xref: NCI:C34963 xref: SNOMEDCT_US_2023_03_01:191306005 xref: UMLS_CUI:C0034152 is_a: DOID:9809 ! hypersensitivity vasculitis [Term] id: DOID:11125 name: qualitative platelet defect synonym: "Qualitative platelet deficiency" EXACT [] xref: ICD10CM:D69.1 xref: ICD9CM:287.1 xref: SNOMEDCT_US_2023_03_01:191311007 xref: UMLS_CUI:C0235604 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:11126 name: acquired thrombocytopenia synonym: "secondary thrombocytopenia" EXACT [] xref: ICD10CM:D69.5 xref: ICD9CM:287.4 xref: SNOMEDCT_US_2023_03_01:74576004 xref: UMLS_CUI:C0154301 is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:11129 name: dislocation of ear ossicle xref: ICD9CM:385.23 xref: UMLS_CUI:C0155487 is_a: DOID:2742 ! auditory system disease [Term] id: DOID:1113 name: obsolete malignant esophageal neoplasm by anatomic region is_obsolete: true [Term] id: DOID:11130 name: secondary hypertension subset: NCIthesaurus xref: ICD10CM:I15 xref: ICD9CM:405 xref: NCI:C3657 xref: SNOMEDCT_US_2023_03_01:155300002 xref: UMLS_CUI:C0155616 is_a: DOID:10763 ! hypertension [Term] id: DOID:11132 name: prostatic hypertrophy is_a: DOID:47 ! prostate disease [Term] id: DOID:11133 name: prostatic cyst synonym: "Cyst of prostate" EXACT [] xref: ICD10CM:N42.83 xref: ICD9CM:600.3 xref: SNOMEDCT_US_2023_03_01:409658007 xref: UMLS_CUI:C1443972 is_a: DOID:11132 ! prostatic hypertrophy [Term] id: DOID:11134 name: prolapse of lacrimal gland synonym: "Dislocation of lacrimal gland" EXACT [] xref: ICD10CM:H04.16 xref: ICD9CM:375.16 xref: SNOMEDCT_US_2023_03_01:84777002 xref: UMLS_CUI:C0155231 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:1114 name: esophagus sarcoma def: "An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus." [url:http\://en.wikipedia.org/wiki/Sarcoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/1658495] subset: NCIthesaurus synonym: "esophageal sarcoma" RELATED [] xref: NCI:C5341 xref: UMLS_CUI:C1333466 is_a: DOID:1115 ! sarcoma is_a: DOID:5041 ! esophageal cancer [Term] id: DOID:11144 name: obsolete anthrax septicemia subset: GOLD subset: gram-positive_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Anthrax septicemia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11145 name: obsolete Pars plana primary cyst synonym: "primary cyst of pars plana" EXACT [] synonym: "primary cyst of pars plana (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11147 name: obsolete vascular lesions of cord complicating labor and delivery alt_id: DOID:11146 alt_id: DOID:14083 synonym: "antepartum vascular lesions of cord complicating labor and delivery" EXACT [] synonym: "vascular lesions of cord complicating labor and delivery, delivered" EXACT [] is_obsolete: true [Term] id: DOID:11148 name: hypersecretion glaucoma def: "A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow." [url:https\://en.wikipedia.org/wiki/Glaucoma#Primary_glaucoma_and_its_variants, url:https\://jamanetwork.com/journals/jamaophthalmology/article-abstract/624904] xref: ICD10CM:H40.82 xref: ICD9CM:365.81 xref: SNOMEDCT_US_2023_03_01:29369005 xref: UMLS_CUI:C0154968 is_a: DOID:1686 ! glaucoma [Term] id: DOID:11149 name: aqueous misdirection def: "A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity." [url:https\://eyewiki.aao.org/Aqueous_misdirection] xref: ICD10CM:H40.83 xref: ICD9CM:365.83 xref: UMLS_CUI:C1135189 is_a: DOID:1686 ! glaucoma [Term] id: DOID:1115 name: sarcoma alt_id: DOID:3936 def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." [url:http\://cancergenome.nih.gov/cancersselected/Sarcoma, url:http\://en.wikipedia.org/wiki/Sarcoma, url:http\://www.cancer.gov/dictionary?CdrID=45562] subset: DO_cancer_slim subset: DO_RAD_slim subset: TopNodes_DOcancerslim synonym: "connective and soft tissue neoplasm" EXACT [] synonym: "tumor of soft tissue and skeleton" EXACT [] xref: ICD10CM:C49 xref: ICD9CM:171.9 xref: ICDO:8800/3 xref: SNOMEDCT_US_2023_03_01:93765001 xref: UMLS_CUI:C0153519 is_a: DOID:0050687 ! cell type cancer [Term] id: DOID:11150 name: obsolete glaucoma due to raised episcleral venous pressure synonym: "Glaucoma with increased episcleral venous pressure" EXACT [] synonym: "Glaucoma with increased episcleral venous pressure (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11151 name: cholecystolithiasis subset: NCIthesaurus xref: MESH:D041761 xref: NCI:C34443 xref: SNOMEDCT_US_2023_03_01:235919008 xref: UMLS_CUI:C0947622 is_a: DOID:0060262 ! gallbladder disease [Term] id: DOID:11153 name: miliaria rubra def: "A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction." [url:https\://en.wikipedia.org/wiki/Miliaria, url:https\://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html, url:https\://www.ncbi.nlm.nih.gov/books/NBK537176/] synonym: "prickly heat" EXACT [] xref: ICD10CM:L74.0 xref: ICD9CM:705.1 xref: MESH:D008883 xref: SNOMEDCT_US_2023_03_01:44279002 xref: UMLS_CUI:C0162423 is_a: DOID:1382 ! miliaria [Term] id: DOID:11155 name: hypohidrosis def: "A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands." [url:https\://en.wikipedia.org/wiki/Hypohidrosis] subset: NCIthesaurus synonym: "Oligohidrosis" EXACT [] xref: ICD10CM:L74.4 xref: MESH:D007007 xref: NCI:C34718 xref: SNOMEDCT_US_2023_03_01:201189007 xref: UMLS_CUI:C0020620 is_a: DOID:1383 ! sweat gland disease property_value: exactMatch "MESH:D007007" xsd:string [Term] id: DOID:11156 name: anhidrosis def: "A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin." [url:https\://en.wikipedia.org/wiki/Hypohidrosis, url:https\://my.clevelandclinic.org/health/diseases/15891-anhidrosis-lack-of-sweat] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "absence of sweating" EXACT [] synonym: "Adiaphoresis" EXACT [] xref: ICD10CM:L74.4 xref: ICD9CM:705.0 xref: MESH:D007007 xref: MIM:206600 xref: NCI:C34385 xref: SNOMEDCT_US_2023_03_01:201189007 xref: UMLS_CUI:C0003028 is_a: DOID:11155 ! hypohidrosis [Term] id: DOID:11158 name: obsolete disorder of optic chiasm associated with non-pituitary neoplasm synonym: "disorder of optic chiasm associated with non-pituitary neoplasm (disorder)" EXACT [] synonym: "disorder of optic chiasm associated with other neoplasm" EXACT [] is_obsolete: true [Term] id: DOID:1116 name: pertussis alt_id: DOID:11333 alt_id: DOID:11751 def: "A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop)." [url:http\://en.wikipedia.org/wiki/Pertussis, url:http\://www.merck.com/mmhe/sec23/ch272/ch272g.html#sec23-ch272-ch272g-800] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease synonym: "bordetella infection" EXACT [] synonym: "WC - Whooping cough" EXACT [] synonym: "whooping cough" EXACT [] xref: KEGG:05133 xref: MESH:D001885 xref: SNOMEDCT_US_2023_03_01:26484003 xref: UMLS_CUI:C0006015 is_a: DOID:0050339 ! commensal bacterial infectious disease [Term] id: DOID:11161 name: neonatal respiratory failure def: "A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates." [url:https\://pubmed.ncbi.nlm.nih.gov/26781405/] synonym: "respiratory failure of newborn" EXACT [] xref: ICD10CM:P28.5 xref: ICD9CM:770.84 xref: SNOMEDCT_US_2023_03_01:95619009 xref: UMLS_CUI:C0521648 is_a: DOID:11162 ! respiratory failure [Term] id: DOID:11162 name: respiratory failure alt_id: DOID:11391 alt_id: DOID:11392 alt_id: DOID:11393 def: "A lung disease characterized by inadequate gas exchange by the respiratory system." [url:http\://en.wikipedia.org/wiki/Respiratory_failure] subset: NCIthesaurus synonym: "acute and chronic respiratory failure" EXACT [] synonym: "acute respiratory Failure" EXACT [] synonym: "acute-on-chronic respiratory failure" EXACT [] synonym: "chronic respiratory failure" EXACT [] synonym: "respiratory insufficiency/failure" EXACT [] xref: ICD10CM:J96.0 xref: ICD9CM:518.81 xref: NCI:C27043 xref: SNOMEDCT_US_2023_03_01:65710008 xref: UMLS_CUI:C0264490 is_a: DOID:850 ! lung disease [Term] id: DOID:11163 name: obsolete apnea of prematurity synonym: "primary apnea of newborn" EXACT [] is_obsolete: true [Term] id: DOID:11164 name: band keratopathy comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Band-shaped keratopathy" EXACT [] xref: ICD10CM:H18.42 xref: ICD9CM:371.43 xref: MESH:C562399 xref: MIM:217500 xref: NCI:C118765 xref: SNOMEDCT_US_2023_03_01:35055000 xref: UMLS_CUI:C0155120 is_a: DOID:1237 ! corneal degeneration [Term] id: DOID:11165 name: common wart def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body." [url:http\://en.wikipedia.org/wiki/Wart] subset: DO_infectious_disease_slim subset: NCIthesaurus xref: NCI:C5028 xref: SNOMEDCT_US_2023_03_01:30285000 xref: UMLS_CUI:C0043037 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:11166 name: Human papillomavirus infectious disease def: "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." [url:https\://pubmed.ncbi.nlm.nih.gov/28964706/] subset: DO_infectious_disease_slim synonym: "HPV" EXACT OMO:0003012 [] xref: MESH:D030361 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:11167 name: obsolete uterine cervix condylomata acuminata def: "An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts." [url:http\://emedicine.medscape.com/article/781735-overview] subset: sexually_transmitted_infectious_disease synonym: "Condyloma of the Cervix Uteri" EXACT [] is_obsolete: true [Term] id: DOID:11168 name: anogenital venereal wart alt_id: DOID:7877 def: "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194d.html] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: sexually_transmitted_infectious_disease synonym: "Anogenital Human papilloma Virus Infectious Disease" EXACT [] synonym: "Anogenital warts" EXACT [] synonym: "Condyloma acuminatum" RELATED [] synonym: "genital wart virus infectious disease" EXACT [] synonym: "Genital warts" EXACT [] synonym: "venereal wart" EXACT [] xref: ICD10CM:A63.0 xref: ICD9CM:078.11 xref: MESH:D003218 xref: NCI:C2960 xref: NCI:C4820 xref: SNOMEDCT_US_2023_03_01:240542006 xref: SNOMEDCT_US_2023_03_01:302812006 xref: UMLS_CUI:C0009663 xref: UMLS_CUI:C0554632 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:11169 name: obsolete vaginal condylomata acuminata def: "An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts." [url:http\://emedicine.medscape.com/article/781735-overview] subset: sexually_transmitted_infectious_disease synonym: "vaginal Condyloma Acuminatum" EXACT [] is_obsolete: true [Term] id: DOID:11170 name: obsolete vulvar condylomata acuminata def: "An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts." [url:http\://emedicine.medscape.com/article/781735-overview] subset: sexually_transmitted_infectious_disease synonym: "Condyloma acuminata of vulva (disorder)" EXACT [] synonym: "Vulvar Condyloma" EXACT [] is_obsolete: true [Term] id: DOID:11171 name: obsolete urethral condylomata acuminata def: "An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts." [url:http\://emedicine.medscape.com/article/781735-overview] subset: sexually_transmitted_infectious_disease synonym: "urethral Condylomata" EXACT [] is_obsolete: true [Term] id: DOID:11172 name: obsolete anal condylomata acuminata def: "An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts." [url:http\://emedicine.medscape.com/article/781735-overview] subset: sexually_transmitted_infectious_disease synonym: "Condylomata of anus" EXACT [] is_obsolete: true [Term] id: DOID:11175 name: enophthalmos subset: NCIthesaurus xref: ICD10CM:H05.4 xref: ICD9CM:376.5 xref: MESH:D015841 xref: NCI:C79552 xref: SNOMEDCT_US_2023_03_01:267746003 xref: UMLS_CUI:C0014306 is_a: DOID:930 ! orbital disease [Term] id: DOID:11177 name: total internal ophthalmoplegia xref: ICD9CM:367.52 xref: SNOMEDCT_US_2023_03_01:193630009 xref: UMLS_CUI:C0152197 is_a: DOID:10034 ! eye accommodation disease is_a: DOID:238 ! pupil disease [Term] id: DOID:11179 name: obsolete otitis media with effusion def: "A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media." [url:http\://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion] synonym: "Glue ear" EXACT [] synonym: "Mucoid otitis media" EXACT [] synonym: "Mucoid otitis media NOS (disorder)" EXACT [] synonym: "Otitis media with effusion" EXACT [] synonym: "Otitis media with effusion - mucoid" EXACT [] synonym: "Otitis media, transudative" EXACT [] synonym: "Secretory Otitis Media" EXACT [] synonym: "Transudative otitis media" EXACT [] is_obsolete: true [Term] id: DOID:11180 name: non-suppurative otitis media def: "A otitis media which involves transudation of fluid in the middle ear without pus formation." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/1195971] synonym: "Nonsuppurative otitis media" EXACT [] xref: ICD10CM:H65 xref: ICD9CM:381.4 xref: SNOMEDCT_US_2023_03_01:275481002 xref: UMLS_CUI:C0271446 is_a: DOID:10754 ! otitis media [Term] id: DOID:11181 name: serous glue ear def: "A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment." [url:http\://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion] xref: ICD10CM:H65.2 xref: ICD9CM:381.1 xref: SNOMEDCT_US_2023_03_01:81564005 xref: UMLS_CUI:C0155421 is_a: DOID:11180 ! non-suppurative otitis media [Term] id: DOID:11182 name: obsolete chronic otitis media with effusion def: "A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false] is_obsolete: true [Term] id: DOID:11183 name: obsolete Haemophilus influenzae septicemia subset: gram-negative_bacterial_infectious_disease synonym: "Hemophilus influenzae septicemia (disorder)" EXACT [] synonym: "Septicemia due to H. influenzae" EXACT [] synonym: "Septicemia due to hemophilus influenzae [H. influenzae]" EXACT [] is_obsolete: true [Term] id: DOID:11184 name: acute conjunctivitis xref: ICD10CM:H10.02 xref: ICD9CM:372.03 xref: UMLS_CUI:C0029668 is_a: DOID:6195 ! conjunctivitis [Term] id: DOID:11186 name: allescheriosis def: "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses." [url:https\://pubmed.ncbi.nlm.nih.gov/934264/] subset: DO_infectious_disease_slim synonym: "Petriellidosis" EXACT [] xref: ICD10CM:B48.2 xref: ICD9CM:117.6 xref: SNOMEDCT_US_2023_03_01:80936003 xref: UMLS_CUI:C0153285 is_a: DOID:0050292 ! primary systemic mycosis [Term] id: DOID:11189 name: pulp degeneration subset: NCIthesaurus xref: ICD10CM:K04.2 xref: ICD9CM:522.2 xref: NCI:C34962 xref: SNOMEDCT_US_2023_03_01:22361007 xref: UMLS_CUI:C0034100 is_a: DOID:5330 ! dental pulp disease [Term] id: DOID:1119 name: obsolete large for dates affecting management of mother alt_id: DOID:10214 alt_id: DOID:1118 synonym: "antepartum excessive fetal growth affecting management of mother" EXACT [] synonym: "Excessive fetal growth affecting management of mother, delivered" EXACT [] synonym: "Excessive fetal growth, affecting management of mother, antepartum" EXACT [] synonym: "Excessive fetal growth, affecting management of mother, delivered" EXACT [] is_obsolete: true [Term] id: DOID:11190 name: pseudomembranous conjunctivitis def: "A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid." [url:http\://bjo.bmj.com/content/55/5/312.full.pdf, url:https\://www.ncbi.nlm.nih.gov/pubmed/9400798] subset: NCIthesaurus xref: ICD10CM:H10.22 xref: ICD9CM:372.04 xref: NCI:C35196 xref: SNOMEDCT_US_2023_03_01:267643002 xref: UMLS_CUI:C0155144 is_a: DOID:11184 ! acute conjunctivitis [Term] id: DOID:11193 name: syndactyly def: "A synostosis that results_in the fusion of two or more digits." [url:http\://en.wikipedia.org/wiki/Syndactyly, url:http\://www.hmc.psu.edu/healthinfo/pq/poly.htm, url:http\://www.wheelessonline.com/ortho/syndactyly] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "symphalangism" EXACT [] synonym: "symphalangy" EXACT [] synonym: "webbing of digits" EXACT [] xref: GARD:13181 xref: ICD10CM:Q70 xref: ICD9CM:755.1 xref: MESH:D013576 xref: NCI:C87125 xref: ORDO:295012 xref: ORDO:90025 xref: ORDO:93403 xref: SNOMEDCT_US_2023_03_01:156989004 xref: UMLS_CUI:C0039075 is_a: DOID:11971 ! synostosis property_value: exactMatch "MESH:D013576" xsd:string [Term] id: DOID:11195 name: acute laryngopharyngitis def: "An upper respiratory tract disease which involves inflammation of both larynx and pharynx." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngopharyngitis] xref: ICD10CM:J06.0 xref: ICD9CM:465.0 xref: SNOMEDCT_US_2023_03_01:55355000 xref: UMLS_CUI:C0155817 is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:11197 name: serous conjunctivitis except viral def: "A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge." [url:https\://www.aafp.org/afp/1998/0215/p735.html] synonym: "serous conjunctivitis, except viral" EXACT [] xref: ICD10CM:H10.23 xref: ICD9CM:372.01 xref: SNOMEDCT_US_2023_03_01:9824006 xref: UMLS_CUI:C0155142 is_a: DOID:11184 ! acute conjunctivitis [Term] id: DOID:11198 name: DiGeorge syndrome def: "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production." [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome, url:https\://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "22q11.2 deletion syndrome" EXACT [] synonym: "DiGeorge sequence" EXACT [] synonym: "DiGeorge's syndrome" EXACT [] synonym: "Pharyngeal pouch syndrome" EXACT [] xref: GARD:10299 xref: ICD10CM:D82.1 xref: ICD9CM:279.11 xref: MESH:D004062 xref: MIM:188400 xref: NCI:C2989 xref: SNOMEDCT_US_2023_03_01:190991007 xref: UMLS_CUI:C0012236 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:11199 name: hypoparathyroidism def: "A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood." [url:http\://en.wikipedia.org/wiki/Hypoparathyroidism, url:http\://ghr.nlm.nih.gov/glossary=hypoparathyroidism, url:http\://www.mayoclinic.org/diseases-conditions/hypoparathyroidism/basics/definition/con-20030780?_ga=1.221847067.2017809229.1415219956] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6733 xref: ICD10CM:E20 xref: ICD9CM:252.1 xref: MESH:D007011 xref: NCI:C78350 xref: ORDO:2238 xref: SNOMEDCT_US_2023_03_01:154697005 xref: UMLS_CUI:C0020626 is_a: DOID:11201 ! parathyroid gland disease property_value: exactMatch "MESH:D007011" xsd:string [Term] id: DOID:112 name: esophageal varix alt_id: DOID:111 alt_id: DOID:13536 alt_id: DOID:14031 subset: DO_rare_slim subset: NCIthesaurus synonym: "Bleeding esophageal varices" EXACT [] synonym: "Bleeding oesophageal varices" EXACT [] synonym: "esophageal varices" EXACT [] synonym: "esophageal varices in disease classified elsewhere, with bleeding" EXACT [] synonym: "esophageal varices with bleeding" EXACT [] synonym: "esophageal varices with bleeding in disease EC" EXACT [] synonym: "esophageal varices without bleeding" EXACT [] synonym: "esophageal varices without mention of bleeding" EXACT [] xref: GARD:6384 xref: ICD10CM:I85.01 xref: ICD9CM:456.0 xref: ICD9CM:456.2 xref: ICD9CM:456.20 xref: NCI:C78282 xref: SNOMEDCT_US_2023_03_01:195475003 xref: SNOMEDCT_US_2023_03_01:195643006 xref: SNOMEDCT_US_2023_03_01:236067006 xref: UMLS_CUI:C0155789 xref: UMLS_CUI:C0155791 xref: UMLS_CUI:C0155792 is_a: DOID:6050 ! esophageal disease is_a: DOID:866 ! vein disease [Term] id: DOID:11200 name: T cell deficiency alt_id: DOID:613 def: "A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells." [url:https\://en.wikipedia.org/wiki/T_cell_deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/18755723] subset: NCIthesaurus synonym: "T cell immunodeficiency" EXACT [] synonym: "T lymphocyte deficiency" EXACT [] synonym: "T lymphocyte immunodeficiency" EXACT [] xref: NCI:C27145 xref: NCI:C27872 xref: SNOMEDCT_US_2023_03_01:402792003 xref: UMLS_CUI:C1274233 xref: UMLS_CUI:C1333147 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:11201 name: parathyroid gland disease def: "An endocrine system disease that is located_in the parathyroid gland." [url:http\://en.wikipedia.org/wiki/Parathyroid_disease] subset: NCIthesaurus synonym: "disease of parathyroid glands" EXACT [] xref: ICD10CM:E21.5 xref: ICD9CM:252.9 xref: MESH:D010279 xref: NCI:C26844 xref: SNOMEDCT_US_2023_03_01:73132005 xref: UMLS_CUI:C0030517 is_a: DOID:28 ! endocrine system disease [Term] id: DOID:11202 name: primary hyperparathyroidism alt_id: DOID:14790 def: "A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood." [url:https\://rarediseases.org/rare-diseases/primary-hyperparathyroidism/] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "familial primary hyperparathyroidism" EXACT [] xref: GARD:8612 xref: ICD10CM:E21.0 xref: ICD9CM:252.01 xref: MESH:D049950 xref: MIM:600166 xref: NCI:C48280 xref: ORDO:99878 xref: SNOMEDCT_US_2023_03_01:190452007 xref: SNOMEDCT_US_2023_03_01:54920000 xref: UMLS_CUI:C0221002 xref: UMLS_CUI:C0271846 is_a: DOID:13543 ! hyperparathyroidism [Term] id: DOID:11203 name: Angelucci's syndrome subset: NCIthesaurus synonym: "acute atopic conjunctivitis" EXACT [] synonym: "Angelucci syndrome" EXACT [] xref: ICD10CM:H10.1 xref: ICD9CM:372.05 xref: NCI:C34353 xref: SNOMEDCT_US_2023_03_01:193863004 xref: UMLS_CUI:C0001309 is_a: DOID:11204 ! allergic conjunctivitis [Term] id: DOID:11204 name: allergic conjunctivitis def: "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant." [url:http\://en.wikipedia.org/wiki/Allergic_conjunctivitis] {comment="ls:IEDB"} subset: NCIthesaurus xref: MESH:D003233 xref: NCI:C34506 xref: SNOMEDCT_US_2023_03_01:231854006 xref: UMLS_CUI:C0009766 is_a: DOID:1205 ! allergic disease is_a: DOID:2475 ! chronic conjunctivitis [Term] id: DOID:11206 name: opioid abuse def: "A substance abuse that involves the recurring use of opioid drugs despite negative consequences." [url:http\://en.wikipedia.org/wiki/Opioid] xref: ICD10CM:F11.1 xref: ICD9CM:305.5 xref: MESH:D009293 xref: SNOMEDCT_US_2023_03_01:5602001 xref: UMLS_CUI:C0029095 is_a: DOID:302 ! substance abuse [Term] id: DOID:11211 name: buphthalmos def: "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1135/] comment: OMIM mapping confirmed by DO. [LS]. synonym: "primary congenital glaucoma 3A" EXACT [] synonym: "simple buphthalmos" EXACT [] xref: ICD9CM:743.21 xref: MIM:231300 xref: SNOMEDCT_US_2023_03_01:204116009 xref: UMLS_CUI:C0311251 is_a: DOID:11212 ! hydrophthalmos [Term] id: DOID:11212 name: hydrophthalmos def: "A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1135/] subset: NCIthesaurus xref: ICD10CM:Q15.0 xref: MESH:D006871 xref: NCI:C50648 xref: SNOMEDCT_US_2023_03_01:392368005 xref: UMLS_CUI:C0020302 is_a: DOID:0050593 ! primary congenital glaucoma [Term] id: DOID:11213 name: acute contagious conjunctivitis def: "A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus." [url:https\://www.aafp.org/afp/1998/0215/p735.html] subset: NCIthesaurus synonym: "Contagious opthalmia" EXACT [] synonym: "Pink eye" EXACT [] synonym: "Pinkeye" EXACT [] xref: NCI:C35704 xref: SNOMEDCT_US_2023_03_01:240066005 xref: UMLS_CUI:C1313983 is_a: DOID:11184 ! acute conjunctivitis [Term] id: DOID:11215 name: obsolete premature rupture of the fetal membranes alt_id: DOID:12565 alt_id: DOID:14540 synonym: "antepartum premature rupture of membranes" EXACT [] synonym: "delivered premature rupture of membranes" EXACT [] synonym: "Premature rupture of membranes - delivered (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11217 name: chronic tympanitis xref: ICD10CM:H73.1 xref: ICD9CM:384.1 xref: SNOMEDCT_US_2023_03_01:89723004 xref: UMLS_CUI:C0395849 is_a: DOID:5782 ! tympanic membrane disease [Term] id: DOID:11219 name: conjunctival folliculosis def: "An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae." [url:https\://www.ajo.com/article/S0002-9394(21)90838-9/abstract] synonym: "acute follicular conjunctivitis" EXACT [] xref: ICD10CM:H10.01 xref: ICD9CM:372.02 xref: SNOMEDCT_US_2023_03_01:41308008 xref: UMLS_CUI:C0155143 is_a: DOID:11184 ! acute conjunctivitis [Term] id: DOID:1122 name: obsolete spinal enthesopathy synonym: "Spinal enthesopathy (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11223 name: small intestine diverticulitis alt_id: DOID:11224 synonym: "Diverticulosis of small intestine with hemorrhage" EXACT [] xref: SNOMEDCT_US_2023_03_01:280991008 xref: UMLS_CUI:C0267502 is_a: DOID:7475 ! diverticulitis [Term] id: DOID:11227 name: acute hemorrhagic conjunctivitis def: "A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis." [url:https\://en.wikipedia.org/wiki/Acute_hemorrhagic_conjunctivitis] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Apollo disease" EXACT [] synonym: "Epidemic hemorrhagic conjunctivitis" EXACT [] synonym: "viral conjunctivitis" RELATED [] xref: ICD9CM:077.4 xref: MESH:D003232 xref: NCI:C34505 xref: SNOMEDCT_US_2023_03_01:186677009 xref: UMLS_CUI:C0009765 is_a: DOID:4251 ! conjunctival disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:1123 name: spondyloarthropathy subset: DO_rare_slim synonym: "spondarthropathy" EXACT [] synonym: "spondylarthrosis" EXACT [] xref: GARD:4971 xref: MESH:D025242 xref: SNOMEDCT_US_2023_03_01:8847002 xref: UMLS_CUI:C0949691 is_a: DOID:381 ! arthropathy [Term] id: DOID:11230 name: acute orbital inflammation synonym: "acute inflammation of orbit" EXACT [] xref: ICD10CM:H05.0 xref: ICD9CM:376.0 xref: SNOMEDCT_US_2023_03_01:20551005 xref: UMLS_CUI:C0155256 is_a: DOID:930 ! orbital disease [Term] id: DOID:11231 name: orbital periostitis def: "An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919808/] xref: ICD10CM:H05.03 xref: ICD9CM:376.02 xref: SNOMEDCT_US_2023_03_01:65974003 xref: UMLS_CUI:C0155257 is_a: DOID:11230 ! acute orbital inflammation [Term] id: DOID:11232 name: orbital osteomyelitis def: "An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249811/] xref: ICD10CM:H05.02 xref: ICD9CM:376.03 xref: SNOMEDCT_US_2023_03_01:65875003 xref: UMLS_CUI:C0155258 is_a: DOID:11230 ! acute orbital inflammation [Term] id: DOID:11233 name: orbital tenonitis def: "An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2884909/] synonym: "Tenonitis" EXACT [] xref: ICD9CM:376.04 xref: SNOMEDCT_US_2023_03_01:8976003 xref: UMLS_CUI:C0155259 is_a: DOID:11230 ! acute orbital inflammation [Term] id: DOID:11234 name: orbital cellulitis def: "An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision." [url:https\://en.wikipedia.org/wiki/Tenonitis] subset: NCIthesaurus xref: ICD10CM:H05.01 xref: ICD9CM:376.01 xref: MESH:D054517 xref: NCI:C99000 xref: SNOMEDCT_US_2023_03_01:194005002 xref: UMLS_CUI:C0149507 is_a: DOID:11230 ! acute orbital inflammation [Term] id: DOID:11235 name: adhesive otitis media def: "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear." [url:https\://en.wikipedia.org/wiki/Otitis_media#Adhesive_otitis_media] synonym: "chronic adhesive otitis media" EXACT [] xref: ICD10CM:H74.1 xref: ICD9CM:385.1 xref: SNOMEDCT_US_2023_03_01:7699004 xref: UMLS_CUI:C0155478 is_a: DOID:2742 ! auditory system disease [Term] id: DOID:11239 name: appendix cancer def: "A intestinal cancer that is located_in the appendix." [url:http\://en.wikipedia.org/wiki/Vermiform_appendix] subset: DO_cancer_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "cancer of the appendix" EXACT [] synonym: "malignant neoplasm of appendix vermiformis" EXACT [] synonym: "malignant tumor of appendix" EXACT [] synonym: "malignant tumor of the appendix" EXACT [] xref: ICD10CM:C18.1 xref: ICD9CM:153.5 xref: MESH:D001063 xref: NCI:C9333 xref: SNOMEDCT_US_2023_03_01:93679002 xref: UMLS_CUI:C0496779 is_a: DOID:10155 ! intestinal cancer is_a: DOID:60000 ! appendix disease [Term] id: DOID:11240 name: appendiceal neoplasm subset: NCIthesaurus synonym: "appendix neoplasm" EXACT [] synonym: "neoplasm of appendix" EXACT [] xref: MESH:D001063 xref: NCI:C4434 xref: SNOMEDCT_US_2023_03_01:126846004 xref: UMLS_CUI:C0003614 is_a: DOID:4610 ! intestinal benign neoplasm [Term] id: DOID:11241 name: appendix lymphoma subset: NCIthesaurus synonym: "Appendiceal Lymphoma" EXACT [] xref: NCI:C5513 xref: SNOMEDCT_US_2023_03_01:1153357001 xref: UMLS_CUI:C1332328 is_a: DOID:0060058 ! lymphoma is_a: DOID:11239 ! appendix cancer [Term] id: DOID:11242 name: plethora of newborn subset: NCIthesaurus synonym: "Neonatal polycythemia" EXACT [] xref: ICD10CM:P61.1 xref: ICD9CM:776.4 xref: NCI:C27069 xref: SNOMEDCT_US_2023_03_01:32984002 xref: UMLS_CUI:C0272153 is_a: DOID:8432 ! polycythemia [Term] id: DOID:11243 name: anemia of prematurity def: "A neonatal anemia that is characterized by anemia experienced by preterm infants in the early postnatal weeks." [url:https\://pubmed.ncbi.nlm.nih.gov/20463861/, url:https\://www.nature.com/articles/s41372-021-00992-0] subset: NCIthesaurus xref: ICD10CM:P61.2 xref: ICD9CM:776.6 xref: NCI:C97167 xref: SNOMEDCT_US_2023_03_01:47100003 xref: UMLS_CUI:C0158996 is_a: DOID:11244 ! neonatal anemia [Term] id: DOID:11244 name: neonatal anemia def: "An anemia that is characterized by a lower red blood cell count than normal in neonates." [url:https\://my.clevelandclinic.org/health/diseases/15698-anemia-in-newborns] synonym: "anaemia neonatal" EXACT [] synonym: "anemia neonatal" EXACT [] synonym: "neonatal anaemia" EXACT [] xref: MESH:D000751 xref: SNOMEDCT_US_2023_03_01:111468003 xref: UMLS_CUI:C0002891 is_a: DOID:2355 ! anemia [Term] id: DOID:11245 name: transient neonatal neutropenia xref: ICD10CM:P61.5 xref: ICD9CM:776.7 xref: SNOMEDCT_US_2023_03_01:55444004 xref: UMLS_CUI:C0158997 is_a: DOID:1227 ! neutropenia [Term] id: DOID:11246 name: DIC in newborn subset: NCIthesaurus synonym: "Disseminated intravascular coagulation in newborn" EXACT [] xref: ICD10CM:P60 xref: ICD9CM:776.2 xref: NCI:C111856 xref: SNOMEDCT_US_2023_03_01:34417008 xref: UMLS_CUI:C0158992 is_a: DOID:11247 ! disseminated intravascular coagulation [Term] id: DOID:11247 name: disseminated intravascular coagulation subset: NCIthesaurus synonym: "Defibrination syndrome" EXACT [] synonym: "DIC" EXACT OMO:0003012 [] synonym: "Diffuse or disseminated intravascular coagulation" EXACT [] xref: ICD10CM:D65 xref: ICD9CM:286.6 xref: MESH:D004211 xref: NCI:C2992 xref: SNOMEDCT_US_2023_03_01:67406007 xref: UMLS_CUI:C0012739 is_a: DOID:2452 ! thrombophilia [Term] id: DOID:11248 name: obsolete hemorrhagic disease of newborn synonym: "Hemorrhagic diathesis of newborn" EXACT [] synonym: "Hemorrhagic disease of newborn" EXACT [] synonym: "hemorrhagic disease of newborn" EXACT [] synonym: "Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11249 name: vitamin K deficiency bleeding def: "A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications." [url:https\://en.wikipedia.org/wiki/Haemorrhagic_disease_of_the_newborn, url:https\://medlineplus.gov/ency/article/007320.htm, url:https\://www.cdc.gov/ncbddd/vitamink/facts.html, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592002/] subset: NCIthesaurus synonym: "deficiency of vitamin K" EXACT [] synonym: "vitamin K deficiency" EXACT [] synonym: "vitamin K deficiency hemorrhagic disease" EXACT [] xref: ICD10CM:E56.1 xref: ICD9CM:269.0 xref: MESH:D014813 xref: NCI:C99108 xref: SNOMEDCT_US_2023_03_01:52675005 xref: UMLS_CUI:C0042880 is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:11252 name: microcytic anemia def: "An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear." [url:https\://pubmed.ncbi.nlm.nih.gov/1578956/] {comment="url:https://www.ncbi.nlm.nih.gov/books/NBK470252/"} comment: OMIM mapping confirmed by DO. [SN]. xref: MESH:C562385 xref: MIM:206200 xref: SNOMEDCT_US_2023_03_01:722005000 xref: UMLS_CUI:C0085576 is_a: DOID:2355 ! anemia [Term] id: DOID:11254 name: Brill-Zinsser disease def: "An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses." [url:http\://en.wikipedia.org/wiki/Epidemic_typhus] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Brill Zinsser disease" EXACT [] synonym: "Brill's disease" EXACT [] synonym: "Latent typhus" RELATED [] synonym: "Recrudescent typhus" EXACT [] synonym: "Sporadic typhus" RELATED [] xref: ICD10CM:A75.1 xref: ICD9CM:081.1 xref: MESH:D014438 xref: SNOMEDCT_US_2023_03_01:47761007 xref: UMLS_CUI:C0006181 is_a: DOID:0050480 ! epidemic typhus [Term] id: DOID:11256 name: typhus alt_id: DOID:11255 alt_id: DOID:12353 def: "A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites." [url:https\://en.wikipedia.org/wiki/Typhus] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Classical typhus" RELATED [] synonym: "endemic flea-borne typhus" EXACT [] synonym: "Endemic Typhus fever" EXACT [] synonym: "Epidemic (louse-borne) typhus" RELATED [] synonym: "epidemic louse-borne typhus" EXACT [] synonym: "Epidemic louse-borne typhus fever due to Rickettsia prowazekii" RELATED [] synonym: "European typhus" RELATED [] synonym: "Exanthematic Typhus fever" EXACT [] synonym: "Exanthematous typhus" RELATED [] synonym: "Famine fever" RELATED [] synonym: "Flea typhus" EXACT [] synonym: "Flea-borne rickettsiosis" RELATED [] synonym: "Flea-borne typhus" RELATED [] synonym: "Hospital fever" RELATED [] synonym: "Jail fever" RELATED [] synonym: "Louse-borne [epidemic] typhus" EXACT [] synonym: "Louse-borne rickettsiosis" RELATED [] synonym: "Louse-borne typhus" RELATED [] synonym: "Mexican typhus" RELATED [] synonym: "Moscow typhus" EXACT [] synonym: "Murine [endemic] typhus" EXACT [] synonym: "Murine typhus" RELATED [] synonym: "Petechial fever" RELATED [] synonym: "Prison fever" RELATED [] synonym: "Rat flea typhus" RELATED [] synonym: "Ship fever" RELATED [] synonym: "Shop typhus" RELATED [] synonym: "Typhus exanthematique" RELATED [] synonym: "Typhus fever" EXACT [] synonym: "Urban typhus" RELATED [] xref: GARD:7833 xref: ICD10CM:A75.0 xref: ICD10CM:A75.2 xref: ICD10CM:A75.9 xref: ICD9CM:080 xref: ICD9CM:081.0 xref: ICD9CM:081.9 xref: MESH:D014437 xref: MESH:D014438 xref: NCI:C84688 xref: NCI:C84689 xref: SNOMEDCT_US_2023_03_01:154375001 xref: SNOMEDCT_US_2023_03_01:25668000 xref: SNOMEDCT_US_2023_03_01:39111003 xref: UMLS_CUI:C0041471 xref: UMLS_CUI:C0041472 xref: UMLS_CUI:C0041473 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:11257 name: social phobia def: "A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people." [url:http\://en.wikipedia.org/wiki/Social_phobia] subset: NCIthesaurus xref: ICD10CM:F40.1 xref: ICD9CM:300.23 xref: MESH:D000072861 xref: NCI:C34927 xref: SNOMEDCT_US_2023_03_01:192395002 xref: UMLS_CUI:C0031572 is_a: DOID:591 ! phobic disorder [Term] id: DOID:11258 name: cat-scratch disease def: "A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain." [url:http\://en.wikipedia.org/wiki/Cat_scratch_disease, url:http\://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html#] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "benign lymphoreticulosis" EXACT [] synonym: "cat scratch fever" EXACT [] synonym: "Debre's Syndrome" EXACT [] synonym: "Debre-Mollaret Syndrome" EXACT [] synonym: "Foshay-Mollaret Cat Scratch Fever" EXACT [] xref: ICD10CM:A28.1 xref: ICD9CM:078.3 xref: MESH:D002372 xref: NCI:C84620 xref: SNOMEDCT_US_2023_03_01:123319006 xref: UMLS_CUI:C0007361 is_a: DOID:11102 ! bartonellosis is_a: DOID:9942 ! lymph node disease [Term] id: DOID:11259 name: obsolete Cytomegalovirus infectious disease def: "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions." [url:http\://en.wikipedia.org/wiki/Cytomegalovirus] synonym: "Cytomagalovirus infection" EXACT [] synonym: "Cytomegaloviral disease" EXACT [] synonym: "Cytomegaloviral disease, unspecified" EXACT [] synonym: "Cytomegaloviral disease, unspecified (disorder)" EXACT [] synonym: "cytomegalovirus infection" EXACT [] synonym: "Cytomegalovirus infection (disorder)" EXACT [] synonym: "Salivary gland virus disease" EXACT [] is_obsolete: true [Term] id: DOID:11260 name: rabies def: "A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in Rabies virus, which is transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis." [url:http\://en.wikipedia.org/wiki/Rabies, url:https\://wwwnc.cdc.gov/travel/yellowbook/2020/travel-related-infectious-diseases/rabies] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Lyssa" EXACT [] xref: GARD:7516 xref: ICD10CM:A82 xref: ICD9CM:071 xref: MESH:D011818 xref: NCI:C28182 xref: SNOMEDCT_US_2023_03_01:14168008 xref: UMLS_CUI:C0034494 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:11261 name: obsolete foot and mouth disease def: "A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness." [] synonym: "Epizootic stomatitis" EXACT [] is_obsolete: true [Term] id: DOID:11262 name: ornithosis def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia." [url:http\://en.wikipedia.org/wiki/Psittacosis] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "psittacosis" EXACT [] xref: ICD10CM:A70 xref: ICD9CM:073 xref: MESH:D009956 xref: NCI:C34873 xref: SNOMEDCT_US_2023_03_01:154369005 xref: UMLS_CUI:C0029291 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:11263 name: chlamydia def: "A commensal bacterial infectious disease that is caused by Chlamydia trachomatis." [url:http\://en.wikipedia.org/wiki/Chlamydia_infection] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease synonym: "Chlamydia trachomatis infectious disease" EXACT [] synonym: "chlamydial disease" EXACT [] synonym: "Chlamydial Infection" EXACT [] xref: MESH:D002689 is_a: DOID:0050339 ! commensal bacterial infectious disease [Term] id: DOID:11264 name: obsolete Chlamydophila infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:11265 name: trachoma alt_id: DOID:13013 alt_id: DOID:13264 def: "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea." [url:http\://en.wikipedia.org/wiki/Trachoma, url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/trachoma_t.htm, url:http\://www.who.int/blindness/causes/priority/en/index2.html] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease synonym: "active stage trachoma" EXACT [] synonym: "trachoma dubium" EXACT [] xref: GARD:10374 xref: ICD10CM:A71 xref: ICD10CM:A71.0 xref: ICD10CM:A71.1 xref: ICD9CM:076 xref: ICD9CM:076.0 xref: ICD9CM:076.1 xref: MESH:D014141 xref: SNOMEDCT_US_2023_03_01:154367007 xref: SNOMEDCT_US_2023_03_01:29976007 xref: SNOMEDCT_US_2023_03_01:52812002 xref: UMLS_CUI:C0040592 xref: UMLS_CUI:C0153107 xref: UMLS_CUI:C0153108 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:5614 ! eye disease [Term] id: DOID:11266 name: Hantavirus hemorrhagic fever with renal syndrome def: "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, has_material_basis_in Orthohantavirus hantanense, has_material_basis_in Orthohantavirus puumalaense, has_material_basis_in Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure." [url:http\://whqlibdoc.who.int/bulletin/1983/Vol61-No2/bulletin_1983_61%282%29_269-275.pdf, url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/hfrs.htm, url:https\://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Hemorrhagic fever, Russian" EXACT [] synonym: "Hemorrhagic nephrosonephritis" EXACT [] synonym: "HFRS" EXACT OMO:0003012 [] synonym: "Puumala virus nephropathy" EXACT [] xref: ICD10CM:A98.5 xref: ICD9CM:078.6 xref: MESH:D006480 xref: NCI:C84753 xref: SNOMEDCT_US_2023_03_01:186701001 xref: UMLS_CUI:C0019101 is_a: DOID:557 ! kidney disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:11267 name: keratomalacia subset: DO_rare_slim xref: GARD:6825 xref: ICD10CM:H18.44 xref: ICD9CM:371.45 xref: MESH:C536156 xref: SNOMEDCT_US_2023_03_01:85149007 xref: UMLS_CUI:C0152455 is_a: DOID:1237 ! corneal degeneration [Term] id: DOID:11268 name: obsolete vitamin A deficiency with keratomalacia synonym: "vitamin A deficiency with keratomalacia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11269 name: chronic apical periodontitis xref: ICD10CM:K04.5 xref: ICD9CM:522.6 xref: SNOMEDCT_US_2023_03_01:718052004 xref: UMLS_CUI:C0392492 is_a: DOID:823 ! periapical periodontitis [Term] id: DOID:11271 name: obsolete hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium alt_id: DOID:11270 alt_id: DOID:14011 alt_id: DOID:14012 synonym: "hypertension secondary to renal disease, antepartum" EXACT [] synonym: "hypertension secondary to renal disease, postpartum" EXACT [] synonym: "hypertension secondary to renal disease, with delivery" EXACT [] is_obsolete: true [Term] id: DOID:11275 name: obsolete muscle syphilis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilis of muscle (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11277 name: Plummer's disease subset: NCIthesaurus synonym: "Plummer disease" EXACT [] synonym: "toxic nodular goiter" EXACT [] xref: ICD10CM:E05.2 xref: ICD9CM:242.3 xref: NCI:C35171 xref: SNOMEDCT_US_2023_03_01:57777000 xref: UMLS_CUI:C0342127 is_a: DOID:7998 ! hyperthyroidism [Term] id: DOID:11282 name: solar retinopathy synonym: "Solar retinitis" EXACT [] xref: ICD10CM:H31.02 xref: ICD9CM:363.31 xref: SNOMEDCT_US_2023_03_01:1135000 xref: UMLS_CUI:C0152131 is_a: DOID:11086 ! chorioretinal scar [Term] id: DOID:11283 name: peripheral scars of retina xref: ICD9CM:363.34 xref: UMLS_CUI:C0154888 is_a: DOID:11086 ! chorioretinal scar [Term] id: DOID:11284 name: obsolete disseminated scars of retina is_obsolete: true [Term] id: DOID:11285 name: tick paralysis def: "A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/00040975.htm, url:http\://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/10428629] subset: DO_infectious_disease_slim subset: DO_rare_slim xref: GARD:7771 xref: MESH:D013985 xref: SNOMEDCT_US_2023_03_01:74225001 xref: UMLS_CUI:C0040197 is_a: DOID:4109 ! tick infestation property_value: exactMatch "MESH:D013985" xsd:string [Term] id: DOID:11286 name: obsolete neuromuscular junction toxic disorder synonym: "Toxic myoneural disorder" EXACT [] synonym: "Toxic myoneural junction disorder" EXACT [] is_obsolete: true [Term] id: DOID:11287 name: obsolete conditions involving the integument and temperature regulation of fetus and newborn is_obsolete: true [Term] id: DOID:11289 name: ventilation pneumonitis def: "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease." [url:http\://www.merck.com/media/mmpe/pdf/Table_055-5.pdf] synonym: "Air-conditioner and humidifier lung" EXACT [] synonym: "Humidifier lung" EXACT [] xref: ICD10CM:J67.7 xref: ICD9CM:495.7 xref: SNOMEDCT_US_2023_03_01:48347002 xref: UMLS_CUI:C0155891 is_a: DOID:841 ! extrinsic allergic alveolitis [Term] id: DOID:1129 name: pituitary apoplexy subset: NCIthesaurus xref: MESH:D010899 xref: NCI:C26853 xref: SNOMEDCT_US_2023_03_01:237701005 xref: UMLS_CUI:C0032001 is_a: DOID:1130 ! pituitary infarct [Term] id: DOID:11294 name: arteriovenous malformation def: "A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system." [url:http\://en.wikipedia.org/wiki/Arteriovenous_malformation] subset: NCIthesaurus synonym: "Arteriovenous hemangioma" EXACT [] synonym: "Cirsoid aneurysm" EXACT [] synonym: "Racemose aneurysm" EXACT [] synonym: "Racemose Angioma" EXACT [] synonym: "Racemose hemangioma" EXACT [] xref: ICD10CM:I77.0 xref: ICDO:9123/0 xref: NCI:C2882 xref: SNOMEDCT_US_2023_03_01:403966009 xref: UMLS_CUI:C0334533 is_a: DOID:255 ! hemangioma [Term] id: DOID:11295 name: retinal microaneurysm xref: ICD9CM:362.14 xref: MESH:D000071071 xref: SNOMEDCT_US_2023_03_01:34037000 xref: UMLS_CUI:C0154834 is_a: DOID:2462 ! retinal vascular disease [Term] id: DOID:11299 name: vertebral artery occlusion synonym: "Occlusion and stenosis of vertebral artery" EXACT [] xref: ICD10CM:I65.0 xref: ICD9CM:433.2 xref: UMLS_CUI:C0155724 is_a: DOID:0050828 ! artery disease is_a: DOID:5976 ! occlusion precerebral artery [Term] id: DOID:113 name: obsolete pneumopericardium is_obsolete: true [Term] id: DOID:1130 name: pituitary infarct subset: NCIthesaurus synonym: "Pituitary infarction" EXACT [] xref: NCI:C27117 xref: SNOMEDCT_US_2023_03_01:95830009 xref: UMLS_CUI:C0342405 is_a: DOID:3646 ! necrosis of pituitary [Term] id: DOID:11302 name: cercarial dermatitis def: "A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection." [url:https\://en.wikipedia.org/wiki/Swimmer%27s_itch, url:https\://www.cdc.gov/parasites/swimmersitch/index.html] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Cutaneous schistosomiasis" EXACT [] synonym: "Sea bather's eruption" EXACT [] xref: GARD:9747 xref: ICD10CM:B65.3 xref: ICD9CM:120.3 xref: NCI:C34457 xref: SNOMEDCT_US_2023_03_01:187115002 xref: UMLS_CUI:C0546996 is_a: DOID:1395 ! schistosomiasis is_a: DOID:37 ! skin disease [Term] id: DOID:11307 name: obsolete subchronic state latent schizophrenia with acute exacerbation is_obsolete: true [Term] id: DOID:11308 name: obsolete latent schizophrenia in remission synonym: "Latent schizophrenia in remission (disorder)" EXACT [] synonym: "Latent schizophrenia, in remission" EXACT [] is_obsolete: true [Term] id: DOID:11309 name: obsolete chronic latent schizophrenia synonym: "chronic latent schizophrenia (disorder)" EXACT [] synonym: "Latent chronic Schizophrenia" EXACT [] synonym: "Latent schizophrenia, chronic state" EXACT [] is_obsolete: true [Term] id: DOID:11312 name: Mobitz type II atrioventricular block subset: NCIthesaurus synonym: "Mobitz (type) II atrioventricular block" EXACT [] synonym: "Mobitz II atrioventricular block" EXACT [] xref: ICD9CM:426.12 xref: NCI:C62018 xref: SNOMEDCT_US_2023_03_01:28189009 xref: UMLS_CUI:C0155700 is_a: DOID:0050822 ! second-degree atrioventricular block [Term] id: DOID:11314 name: obsolete Histoplasma duboisii retinitis def: "An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1945308] synonym: "Histoplasma duboisii with retinitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11315 name: African histoplasmosis def: "A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions." [url:http\://www.cdc.gov/eid/content/13/11/1647.htm] subset: DO_infectious_disease_slim xref: ICD9CM:115.10 xref: UMLS_CUI:C0153270 is_a: DOID:1731 ! histoplasmosis [Term] id: DOID:11316 name: histoplasmosis retinitis synonym: "Histoplasmosis with retinitis" EXACT [] xref: ICD9CM:115.92 xref: SNOMEDCT_US_2023_03_01:187058000 xref: UMLS_CUI:C0153278 is_a: DOID:3612 ! retinitis [Term] id: DOID:11320 name: Kyasanur forest disease def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems." [url:http\://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/kyasanur.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: tick-borne_infectious_disease xref: GARD:8257 xref: ICD10CM:A98.2 xref: ICD9CM:065.2 xref: MESH:D007733 xref: SNOMEDCT_US_2023_03_01:23097003 xref: UMLS_CUI:C0022810 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:11327 name: obsolete acute schizophrenic episode subchronic state with acute exacerbation is_obsolete: true [Term] id: DOID:11328 name: schizophreniform disorder def: "A psychotic disorder that involves schizophrenia symptoms over time period of one month." [url:http\://en.wikipedia.org/wiki/Schizophreniform_disorder] subset: NCIthesaurus xref: ICD10CM:F20.81 xref: ICD9CM:295.4 xref: MESH:D011618 xref: NCI:C94376 xref: SNOMEDCT_US_2023_03_01:88975006 xref: UMLS_CUI:C0036358 is_a: DOID:2468 ! psychotic disorder [Term] id: DOID:11329 name: ainhum def: "A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later." [url:http\://en.wikipedia.org/wiki/Ainhum, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ainhum] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Dactylolysis spontanea" EXACT [] xref: GARD:9512 xref: ICD10CM:L94.6 xref: ICD9CM:136.0 xref: MESH:D000387 xref: MIM:103400 xref: NCI:C84544 xref: SNOMEDCT_US_2023_03_01:51404004 xref: UMLS_CUI:C0001860 is_a: DOID:65 ! connective tissue disease property_value: exactMatch "MESH:D000387" xsd:string [Term] id: DOID:11330 name: erysipelas subset: DO_rare_slim subset: gram-positive_bacterial_infectious_disease xref: GARD:6370 xref: ICD10CM:A46 xref: ICD9CM:035 xref: MESH:D004886 xref: SNOMEDCT_US_2023_03_01:266005008 xref: UMLS_CUI:C0014733 is_a: DOID:2723 ! dermatitis [Term] id: DOID:11335 name: sarcoidosis def: "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs." [url:http\://en.wikipedia.org/wiki/Sarcoidosis, url:http\://ghr.nlm.nih.gov/glossary=sarcoidosis, url:http\://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569?_ga=1.188430891.2017809229.1415219956] subset: DO_rare_slim subset: NCIthesaurus synonym: "Boeck sarcoid" EXACT [] synonym: "lymphogranulomatosis" EXACT [] xref: GARD:7607 xref: ICD10CM:D86 xref: ICD9CM:135 xref: MESH:D012507 xref: NCI:C34995 xref: ORDO:797 xref: SNOMEDCT_US_2023_03_01:154425004 xref: UMLS_CUI:C0036202 is_a: DOID:2916 ! hypersensitivity reaction type IV disease property_value: exactMatch "MESH:D012507" xsd:string [Term] id: DOID:11336 name: rhinoscleroma def: "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis." [url:http\://en.wikipedia.org/wiki/Rhinoscleroma, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinoscleroma] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease xref: ICD9CM:040.1 xref: MESH:D012226 xref: SNOMEDCT_US_2023_03_01:72409005 xref: UMLS_CUI:C0035468 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:11337 name: Lemierre's syndrome def: "A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling." [url:http\://en.wikipedia.org/wiki/Fusobacterium_necrophorum, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=necrobacillosis] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease synonym: "acute sore throat" RELATED [] synonym: "human necrobacillosis" EXACT [] synonym: "Lemierre syndrome" EXACT [] synonym: "postanginal sepsis" EXACT [] xref: GARD:6882 xref: ICD9CM:040.3 xref: MESH:D005674 xref: SNOMEDCT_US_2023_03_01:52542005 xref: UMLS_CUI:C0027537 is_a: DOID:0050339 ! commensal bacterial infectious disease [Term] id: DOID:11338 name: tetanus def: "A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli." [url:http\://en.wikipedia.org/wiki/Tetanus] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "clostridial tetanus" EXACT [] synonym: "Infection due to Clostridium tetani" EXACT [] xref: GARD:5144 xref: ICD10CM:A35 xref: ICD9CM:037 xref: MESH:D013742 xref: NCI:C85185 xref: SNOMEDCT_US_2023_03_01:154312006 xref: UMLS_CUI:C0039614 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:11339 name: pneumocystosis def: "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000671.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pneumocystis%20carinii%20pneumonia] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Pneumocystis carinii pneumonia" EXACT [] synonym: "Pneumocystis jirovecii pneumonia" EXACT [] synonym: "Pneumocystis pneumonia" EXACT [] synonym: "Pneumocystosis pneumonia" EXACT [] synonym: "pulmonary pneumocystosis" EXACT [] xref: GARD:4386 xref: ICD10CM:B59 xref: ICD9CM:136.3 xref: MESH:D011020 xref: NCI:C3334 xref: SNOMEDCT_US_2023_03_01:57541005 xref: UMLS_CUI:C1535939 is_a: DOID:2473 ! opportunistic mycosis is_a: DOID:850 ! lung disease [Term] id: DOID:1134 name: gingival recession alt_id: DOID:1133 alt_id: DOID:13280 alt_id: DOID:13901 alt_id: DOID:2405 subset: NCIthesaurus synonym: "Gingival recession, localized" EXACT [] synonym: "localized gingival recession" EXACT [] synonym: "minimal gingival recession" EXACT [] synonym: "moderate gingival recession" EXACT [] synonym: "severe gingival recession" EXACT [] xref: ICD10CM:K06.0 xref: ICD10CM:K06.01 xref: ICD9CM:523.2 xref: ICD9CM:523.24 xref: MESH:D005889 xref: NCI:C82068 xref: SNOMEDCT_US_2023_03_01:155645006 xref: SNOMEDCT_US_2023_03_01:59898000 xref: UMLS_CUI:C0017572 xref: UMLS_CUI:C0266916 is_a: DOID:1483 ! gingival disease [Term] id: DOID:11340 name: obsolete Pneumocystis infectious disease def: "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." [url:http\://www.dpd.cdc.gov/dpdx/html/pneumocystis.htm] synonym: "Infection by Pneumocystis carinii (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11341 name: obsolete fungal lung infectious disease def: "A lung disease that is a mycosis caused by fungal growth in the lungs." [url:http\://en.wikipedia.org/wiki/Fungal_infection] is_obsolete: true [Term] id: DOID:11342 name: arcus senilis comment: OMIM mapping confirmed by DO. [SN]. synonym: "Arcus of cornea" EXACT [] synonym: "corneal arcus" EXACT [] xref: ICD10CM:H18.41 xref: MESH:D001112 xref: MIM:107800 xref: SNOMEDCT_US_2023_03_01:155159000 xref: UMLS_CUI:C0003742 is_a: DOID:1237 ! corneal degeneration [Term] id: DOID:11343 name: scleral disease def: "An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C79717] subset: NCIthesaurus xref: ICD10CM:H15 xref: MESH:D015422 xref: NCI:C79717 xref: SNOMEDCT_US_2023_03_01:33064008 xref: UMLS_CUI:C0036412 is_a: DOID:5614 ! eye disease [Term] id: DOID:11346 name: obsolete congenital osteodystrophy is_obsolete: true [Term] id: DOID:11347 name: obsolete Meniere's disease in remission synonym: "Inactive Meniere's disease" EXACT [] synonym: "Mnire's disease in remission" EXACT [] is_obsolete: true [Term] id: DOID:11349 name: obsolete epilepsia partialis continua is_obsolete: true [Term] id: DOID:11350 name: obsolete grand mal status epilepticus synonym: "Grand mal status" EXACT [] synonym: "Grand mal status (disorder)" EXACT [] synonym: "Grand mal status, epileptic" EXACT [] is_obsolete: true [Term] id: DOID:11352 name: obsolete epilepsia partialis continua with intractable epilepsy is_obsolete: true [Term] id: DOID:11353 name: bladder diverticulum comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Diverticulum - bladder" EXACT [] synonym: "Diverticulum of bladder" EXACT [] xref: ICD10CM:N32.3 xref: ICD9CM:596.3 xref: MESH:C562406 xref: MIM:109820 xref: NCI:C160155 xref: SNOMEDCT_US_2023_03_01:268335001 xref: UMLS_CUI:C0156273 is_a: DOID:365 ! bladder disease [Term] id: DOID:11354 name: stone in bladder diverticulum synonym: "calculus in diverticulum of bladder" EXACT [] xref: ICD10CM:N21.0 xref: ICD9CM:594.0 xref: SNOMEDCT_US_2023_03_01:18109005 xref: UMLS_CUI:C0156265 is_a: DOID:11353 ! bladder diverticulum [Term] id: DOID:11355 name: bladder calculus xref: ICD10CM:N21.0 xref: MESH:D001744 xref: SNOMEDCT_US_2023_03_01:155879005 xref: UMLS_CUI:C0005683 is_a: DOID:365 ! bladder disease is_a: DOID:9590 ! lower urinary tract calculus [Term] id: DOID:11360 name: Phlebotomus fever def: "A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia." [url:http\://en.wikipedia.org/wiki/Pappataci_fever] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease synonym: "pappataci fever" EXACT [] synonym: "Sandfly fever" EXACT [] synonym: "Sandfly-borne arboviral fever" EXACT [] synonym: "Sandfly-borne bunyavirus fever" EXACT [] synonym: "Sandfly-borne phleboviral disease" EXACT [] xref: ICD10CM:A93.1 xref: ICD9CM:066.0 xref: MESH:D010217 xref: SNOMEDCT_US_2023_03_01:33670001 xref: UMLS_CUI:C0030372 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:11361 name: obsolete tickborne fever subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease synonym: "pasture fever" EXACT [] synonym: "tick-borne fever" EXACT [] synonym: "Tick-borne fever (disorder)" EXACT [] synonym: "Tick-borne fever NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11364 name: lens subluxation subset: NCIthesaurus synonym: "Subluxation of lens" EXACT [] xref: ICD10CM:H27.11 xref: ICD9CM:379.32 xref: MESH:D007906 xref: NCI:C34772 xref: SNOMEDCT_US_2023_03_01:155203002 xref: UMLS_CUI:C0023316 is_a: DOID:110 ! lens disease property_value: exactMatch "MESH:D007906" xsd:string [Term] id: DOID:11367 name: congenital aphakia comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "APHAKIA, CONGENITAL PRIMARY" EXACT [] synonym: "Congenital absence of lens" EXACT [] xref: ICD10CM:Q12.3 xref: ICD9CM:743.35 xref: MIM:610256 xref: NCI:C35172 xref: SNOMEDCT_US_2023_03_01:35387008 xref: UMLS_CUI:C0152422 is_a: DOID:0080015 ! physical disorder is_a: DOID:110 ! lens disease [Term] id: DOID:11371 name: functional diarrhea synonym: "functional diarrhoea" EXACT [] xref: ICD10CM:K59.1 xref: ICD9CM:564.5 xref: SNOMEDCT_US_2023_03_01:47812002 xref: UMLS_CUI:C0156173 is_a: DOID:5353 ! colonic disease [Term] id: DOID:11372 name: megacolon alt_id: DOID:1771 def: "A colonic disease that is characterized by an abnormal dilation of the colon." [url:http\://en.wikipedia.org/wiki/Megacolon] subset: NCIthesaurus synonym: "Dilatation of colon" EXACT [] xref: ICD10CM:K59.39 xref: MESH:D008531 xref: NCI:C34810 xref: SNOMEDCT_US_2023_03_01:33995003 xref: UMLS_CUI:C0025160 is_a: DOID:5353 ! colonic disease [Term] id: DOID:11374 name: anal spasm xref: ICD10CM:K59.4 xref: ICD9CM:564.6 xref: SNOMEDCT_US_2023_03_01:197136003 xref: UMLS_CUI:C0152167 is_a: DOID:3128 ! anus disease [Term] id: DOID:11377 name: obsolete calculus of gallbladder and bile duct with acute cholecystitis alt_id: DOID:11376 synonym: "calculus of gallbladder and bile duct with acute cholecystitis, with obstruction" EXACT [] is_obsolete: true [Term] id: DOID:11379 name: gnathomiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Gnathostomiasis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Gnathostomiasis" EXACT [] synonym: "Infectious Disease by Gnathostoma" EXACT [] xref: GARD:9286 xref: ICD10CM:B83.1 xref: ICD9CM:128.1 xref: MESH:D058429 xref: NCI:C128395 xref: SNOMEDCT_US_2023_03_01:44086001 xref: UMLS_CUI:C0018013 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:1138 name: spinal meningioma subset: DO_rare_slim subset: NCIthesaurus synonym: "Spinal Cord meningioma" EXACT [] xref: GARD:10264 xref: MESH:D008579 xref: NCI:C6935 xref: SNOMEDCT_US_2023_03_01:189167009 xref: UMLS_CUI:C0347515 is_a: DOID:1140 ! spinal canal and spinal cord meningioma is_a: DOID:3565 ! meningioma [Term] id: DOID:11382 name: corneal neovascularization xref: ICD10CM:H16.4 xref: ICD9CM:370.6 xref: MESH:D016510 xref: SNOMEDCT_US_2023_03_01:19161004 xref: UMLS_CUI:C0085109 is_a: DOID:4677 ! keratitis [Term] id: DOID:11383 name: cryptorchidism comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Cryptorchism" EXACT [] synonym: "Undescended testicle" EXACT [] synonym: "undescended testicles" EXACT [] synonym: "Undescended testis" EXACT [] xref: ICD10CM:Q53.9 xref: ICD9CM:752.51 xref: MESH:D003456 xref: MIM:219050 xref: NCI:C12326 xref: SNOMEDCT_US_2023_03_01:204879009 xref: UMLS_CUI:C0010417 is_a: DOID:1923 ! disorder of sexual development [Term] id: DOID:11385 name: expressive language disorder def: "A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits." [url:http\://en.wikipedia.org/wiki/Expressive_language_disorder] subset: NCIthesaurus synonym: "Developmental expressive language disorder" EXACT [] xref: ICD10CM:F80.1 xref: ICD9CM:315.31 xref: NCI:C92562 xref: SNOMEDCT_US_2023_03_01:80360005 xref: UMLS_CUI:C0236826 is_a: DOID:93 ! language disorder [Term] id: DOID:11387 name: epidural abscess def: "A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges)." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001416.htm] synonym: "abscess epidural" EXACT [] xref: MESH:D020802 xref: SNOMEDCT_US_2023_03_01:310671007 xref: UMLS_CUI:C0270629 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:11389 name: subdural empyema def: "A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space." [url:https\://en.wikipedia.org/wiki/Subdural_empyema] synonym: "Subdural abscess" EXACT [] xref: MESH:D013354 xref: SNOMEDCT_US_2023_03_01:37660004 xref: UMLS_CUI:C0038539 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:11390 name: cerebral arteritis xref: ICD9CM:437.4 xref: SNOMEDCT_US_2023_03_01:28366008 xref: UMLS_CUI:C0007773 is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:11394 name: adult respiratory distress syndrome def: "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=adult+respiratory+distress+syndrome, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392788/] comment: PRISM. subset: DO_rare_slim subset: NCIthesaurus synonym: "acute respiratory distress syndrome" EXACT [] synonym: "adult RDS" EXACT [] synonym: "ARDS" EXACT OMO:0003012 [] synonym: "Non-cardiogenic pulmonary edema" EXACT [] synonym: "Shock lung" EXACT [] xref: GARD:5698 xref: ICD10CM:J80 xref: MESH:D012128 xref: NCI:C3353 xref: SNOMEDCT_US_2023_03_01:155627006 xref: UMLS_CUI:C0035222 is_a: DOID:11162 ! respiratory failure [Term] id: DOID:11396 name: pulmonary edema alt_id: DOID:13472 def: "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure." [url:https\://pubmed.ncbi.nlm.nih.gov/11357010/] subset: NCIthesaurus xref: ICD10CM:J81 xref: MESH:D011654 xref: NCI:C26868 xref: SNOMEDCT_US_2023_03_01:19242006 xref: UMLS_CUI:C0034063 is_a: DOID:11162 ! respiratory failure [Term] id: DOID:114 name: heart disease def: "A cardiovascular system disease that involves the heart." [url:http\://en.wikipedia.org/wiki/Heart_disease] subset: DO_FlyBase_slim subset: DO_RAD_slim subset: NCIthesaurus xref: ICD10CM:I51.9 xref: ICD9CM:429.9 xref: MESH:D006331 xref: NCI:C3079 xref: SNOMEDCT_US_2023_03_01:194707003 xref: UMLS_CUI:C0018799 is_a: DOID:0060118 ! thoracic disease is_a: DOID:1287 ! cardiovascular system disease [Term] id: DOID:1140 name: spinal canal and spinal cord meningioma subset: NCIthesaurus xref: NCI:C5134 xref: UMLS_CUI:C1334264 is_a: DOID:5612 ! spinal cancer [Term] id: DOID:11400 name: pyelonephritis subset: NCIthesaurus xref: ICD10CM:N16 xref: ICD9CM:590.80 xref: MESH:D011704 xref: NCI:C34965 xref: SNOMEDCT_US_2023_03_01:45816000 xref: UMLS_CUI:C0034186 is_a: DOID:2744 ! pyelitis [Term] id: DOID:11401 name: xanthogranulomatous pyelonephritis subset: NCIthesaurus xref: MESH:D011705 xref: NCI:C123038 xref: SNOMEDCT_US_2023_03_01:197777006 xref: UMLS_CUI:C0034188 is_a: DOID:1076 ! chronic pyelonephritis [Term] id: DOID:11403 name: obsolete depressive state induced by drug synonym: "Drug-induced depressive state (disorder)" EXACT [] synonym: "Drug-induced mood disorder" EXACT [] is_obsolete: true [Term] id: DOID:11404 name: obsolete diphtheritic laryngotracheitis def: "A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough." [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/dip.pdf, url:http\://www.cdc.gov/Vaccines/vpd-vac/diphtheria/dat/downloads/protocol_032504.pdf] subset: gram-positive_bacterial_infectious_disease synonym: "laryngeal Diphtheria" EXACT [] synonym: "laryngeal diphtheria" EXACT [] synonym: "laryngeal diphtheria (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11405 name: diphtheria alt_id: DOID:4132 def: "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." [url:http\://en.wikipedia.org/wiki/Diphtheria] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-positive_bacterial_infectious_disease synonym: "corynebacterium infection" EXACT [] xref: GARD:1875 xref: MESH:D003354 xref: SNOMEDCT_US_2023_03_01:397434007 xref: UMLS_CUI:C0010153 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:11406 name: choroiditis subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6062 xref: ICD10CM:H30.9 xref: MESH:D002833 xref: NCI:C35111 xref: SNOMEDCT_US_2023_03_01:16553002 xref: UMLS_CUI:C0008526 is_a: DOID:1417 ! choroid disease [Term] id: DOID:11409 name: obsolete syphilitic disseminated chorioretinitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilitic disseminated retinochoroiditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1141 name: obsolete alternating exotropia with V pattern synonym: "Alternating exotropia with V pattern (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11418 name: obsolete Trichomonas urethritis def: "A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm] synonym: "trichomonal urethritis" EXACT [] synonym: "Trichomonal urethritis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1142 name: alternating exotropia xref: ICD10CM:H50.15 xref: ICD9CM:378.15 xref: MESH:D005099 xref: SNOMEDCT_US_2023_03_01:194093000 xref: UMLS_CUI:C0152207 is_a: DOID:1143 ! exotropia [Term] id: DOID:11421 name: obsolete acquired cavovarus foot deformity synonym: "acquired cavovarus deformity of foot (disorder)" EXACT [] synonym: "Cavovarus deformity of foot, acquired" EXACT [] is_obsolete: true [Term] id: DOID:11424 name: fallopian tube endometriosis def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube." [url:https\://en.wikipedia.org/wiki/Endometriosis] subset: NCIthesaurus synonym: "Endometriosis of fallopian tube" EXACT [] xref: ICD10CM:N80.2 xref: ICD9CM:617.2 xref: NCI:C26763 xref: SNOMEDCT_US_2023_03_01:22611009 xref: UMLS_CUI:C0014177 is_a: DOID:1962 ! fallopian tube disease is_a: DOID:289 ! endometriosis [Term] id: DOID:11427 name: endosalpingiosis def: "A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube." [url:https\://en.wikipedia.org/wiki/Endosalpingiosis] subset: NCIthesaurus xref: NCI:C179646 xref: SNOMEDCT_US_2023_03_01:55850004 xref: UMLS_CUI:C0269106 is_a: DOID:289 ! endometriosis [Term] id: DOID:11428 name: endometriosis of intestine def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653346/] xref: ICD10CM:N80.5 xref: ICD9CM:617.5 xref: SNOMEDCT_US_2023_03_01:5562006 xref: UMLS_CUI:C0156347 is_a: DOID:289 ! endometriosis is_a: DOID:5295 ! intestinal disease [Term] id: DOID:11429 name: endometriosis of pelvic peritoneum def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum." [url:https\://en.wikipedia.org/wiki/Endometriosis] xref: ICD10CM:N80.3 xref: ICD9CM:617.3 xref: SNOMEDCT_US_2023_03_01:198251001 xref: UMLS_CUI:C0156345 is_a: DOID:289 ! endometriosis [Term] id: DOID:1143 name: exotropia subset: NCIthesaurus synonym: "Divergent concomitant strabismus" EXACT [] synonym: "Divergent Strabismus" EXACT [] xref: ICD10CM:H50.1 xref: ICD9CM:378.1 xref: MESH:D005099 xref: NCI:C34601 xref: SNOMEDCT_US_2023_03_01:155194007 xref: UMLS_CUI:C0015310 is_a: DOID:540 ! strabismus [Term] id: DOID:11430 name: endometriosis in scar of skin def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin." [url:https\://en.wikipedia.org/wiki/Endometriosis] xref: ICD10CM:N80.6 xref: ICD9CM:617.6 xref: SNOMEDCT_US_2023_03_01:53913001 xref: UMLS_CUI:C0156348 is_a: DOID:289 ! endometriosis [Term] id: DOID:11431 name: endometriosis of rectovaginal septum and vagina def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina." [url:https\://en.wikipedia.org/wiki/Endometriosis] xref: ICD10CM:N80.4 xref: ICD9CM:617.4 xref: SNOMEDCT_US_2023_03_01:198253003 xref: UMLS_CUI:C0156346 is_a: DOID:289 ! endometriosis [Term] id: DOID:11432 name: endometriosis of ovary alt_id: DOID:11426 def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary." [url:https\://en.wikipedia.org/wiki/Endometriosis] subset: NCIthesaurus synonym: "ovarian endometriosis" EXACT [] xref: ICD10CM:N80.1 xref: ICD9CM:617.1 xref: NCI:C27628 xref: SNOMEDCT_US_2023_03_01:198250000 xref: UMLS_CUI:C0156344 is_a: DOID:1100 ! ovarian disease is_a: DOID:289 ! endometriosis [Term] id: DOID:11436 name: obsolete recurrent cholesteatoma post-mastoidectomy synonym: "recurrent cholesteatoma of postmastoidectomy cavity" EXACT [] synonym: "recurrent cholesteatoma of postmastoidectomy cavity (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11441 name: obsolete macrodactylia of toes synonym: "Macrodactylia of toes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11442 name: obsolete malignant mast cell tumors involving lymph node of head synonym: "malignant mast cell tumor of lymph nodes of head, face and/or neck (disorder)" EXACT [] synonym: "malignant mast cell tumors involving lymph nodes of head, face, and neck" EXACT [] synonym: "Mast cell malignancy of lymph nodes of head, face and neck (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11446 name: sciatic neuropathy comment: PRISM. xref: MESH:D020426 xref: SNOMEDCT_US_2023_03_01:52585001 xref: UMLS_CUI:C0149940 is_a: DOID:12528 ! lesion of sciatic nerve [Term] id: DOID:11450 name: allergic cutaneous vasculitis def: "A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin." [url:https\://medlineplus.gov/ency/article/000874.htm] {comment="sn:IEDB"} synonym: "Allergic Cutaneous Angiitis" EXACT [] synonym: "Autoimmune Hypersensitivity angiitis" EXACT [] is_a: DOID:1205 ! allergic disease is_a: DOID:9809 ! hypersensitivity vasculitis [Term] id: DOID:11451 name: obsolete secondary syphilitic meningitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "acute secondary syphilitic meningitis (disorder)" EXACT [] synonym: "acute syphilitic meningitis (secondary)" EXACT [] synonym: "secondary acute syphilitic meningitis" EXACT [] is_obsolete: true [Term] id: DOID:11452 name: perinatal jaundice due to hepatocellular damage xref: ICD9CM:774.4 xref: SNOMEDCT_US_2023_03_01:206463003 xref: UMLS_CUI:C0158976 is_a: DOID:2383 ! neonatal jaundice [Term] id: DOID:11457 name: brain compression def: "A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain." [url:https\://en.wikipedia.org/wiki/Brain_herniation] xref: ICD10CM:G93.5 xref: ICD9CM:348.4 xref: SNOMEDCT_US_2023_03_01:46963008 xref: UMLS_CUI:C0009592 is_a: DOID:936 ! brain disease [Term] id: DOID:11459 name: pseudotumor cerebri comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "benign intracranial hypertension" EXACT [] synonym: "idiopathic intracranial hypertension" EXACT [] xref: GARD:4561 xref: ICD10CM:G93.2 xref: ICD9CM:348.2 xref: MESH:D011559 xref: MIM:243200 xref: NCI:C85035 xref: SNOMEDCT_US_2023_03_01:68267002 xref: UMLS_CUI:C0033845 is_a: DOID:9428 ! intracranial hypertension [Term] id: DOID:11465 name: autonomic nervous system disease def: "A peripheral nervous system disease that is located_in the autonomic nervous system." [url:https\://pubmed.ncbi.nlm.nih.gov/27339825/] synonym: "autonomic nervous system disorder" EXACT [] xref: ICD9CM:337.1 xref: UMLS_CUI:C0154691 is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:11472 name: subglottis cancer subset: NCIthesaurus synonym: "Ca larynx - subglottis" EXACT [] synonym: "malignant Subglottic tumor" EXACT [] synonym: "malignant tumor of subglottis" EXACT [] xref: ICD10CM:C32.2 xref: ICD9CM:161.2 xref: NCI:C3546 xref: SNOMEDCT_US_2023_03_01:94075002 xref: UMLS_CUI:C0153485 is_a: DOID:2596 ! larynx cancer [Term] id: DOID:11476 name: osteoporosis def: "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength." [url:http\://en.wikipedia.org/wiki/Osteoporosis, url:http\://www.mayoclinic.com/health/osteoporosis/DS00128, url:http\://www.niams.nih.gov/Health_Info/Bone/default.asp, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000360.htm] comment: Xref MGI. subset: NCIthesaurus xref: EFO:0003882 xref: ICD10CM:M81.0 xref: ICD9CM:733.0 xref: MESH:D010024 xref: MIM:166710 xref: NCI:C3298 xref: SNOMEDCT_US_2023_03_01:156825006 xref: UMLS_CUI:C0029456 is_a: DOID:0080011 ! bone resorption disease [Term] id: DOID:1148 name: polydactyly alt_id: DOID:14779 def: "A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot." [url:https\://en.wikipedia.org/wiki/Polydactyly] subset: DO_rare_slim subset: NCIthesaurus synonym: "postaxial polydactyly" EXACT [] synonym: "Supernumerary digit" RELATED [] xref: GARD:4410 xref: ICD10CM:Q69 xref: ICD9CM:755.0 xref: MESH:C562429 xref: MESH:D017689 xref: MIM:174200 xref: MIM:174700 xref: MIM:603596 xref: NCI:C87110 xref: SNOMEDCT_US_2023_03_01:205119005 xref: UMLS_CUI:C0152427 xref: UMLS_CUI:C0220697 is_a: DOID:0080015 ! physical disorder [Term] id: DOID:11481 name: constrictive pericarditis subset: NCIthesaurus xref: ICD9CM:423.2 xref: MESH:D010494 xref: NCI:C78246 xref: SNOMEDCT_US_2023_03_01:155340008 xref: UMLS_CUI:C0031048 is_a: DOID:1787 ! pericarditis [Term] id: DOID:11482 name: hemopericardium def: "A pericardial effusion that results from blood in the pericardial sac." [url:http\://en.wikipedia.org/wiki/Hemopericardium] subset: NCIthesaurus synonym: "Haemopericardium" EXACT [] xref: ICD9CM:423.0 xref: MESH:D010490 xref: NCI:C111644 xref: SNOMEDCT_US_2023_03_01:155339006 xref: UMLS_CUI:C0019064 is_a: DOID:118 ! pericardial effusion [Term] id: DOID:11486 name: Horner's syndrome def: "An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics." [url:https\://pubmed.ncbi.nlm.nih.gov/14610154/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Bernard Horner syndrome" EXACT [] synonym: "cervical sympathetic paralysis" EXACT [] synonym: "Horner syndrome" EXACT [] xref: GARD:6670 xref: ICD10CM:G90.2 xref: MESH:D006732 xref: MIM:143000 xref: NCI:C28155 xref: SNOMEDCT_US_2023_03_01:192922002 xref: UMLS_CUI:C0019937 is_a: DOID:11504 ! autonomic neuropathy [Term] id: DOID:11488 name: idiopathic peripheral autonomic neuropathy xref: ICD10CM:G90.0 xref: ICD9CM:337.0 xref: SNOMEDCT_US_2023_03_01:192914009 xref: UMLS_CUI:C0154690 is_a: DOID:11465 ! autonomic nervous system disease [Term] id: DOID:11489 name: obsolete vitamin A deficiency with conjunctival xerosis and Bitot's spot synonym: "vitamin A deficiency with Bitot's spot AND conjunctival xerosis (disorder)" EXACT [] synonym: "vitamin A deficiency with Bitot's spot AND conjunctival xerosis [dup] (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11490 name: obsolete vitamin A deficiency with night blindness synonym: "vitamin A deficiency with night blindness (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11491 name: acquired night blindness def: "A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated." [url:https\://en.wikipedia.org/wiki/Nyctalopia, url:https\://en.wikipedia.org/wiki/Vitamin_A_deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/25804276] xref: ICD10CM:H53.62 xref: ICD9CM:368.62 xref: SNOMEDCT_US_2023_03_01:53808001 xref: UMLS_CUI:C0152202 is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:115 name: cardiac tamponade def: "A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch." [url:http\://en.wikipedia.org/wiki/Cardiac_tamponade, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000194.htm] subset: NCIthesaurus synonym: "pericardial tamponade" EXACT [] synonym: "Rose's tamponade" EXACT [] xref: ICD10CM:I31.4 xref: ICD9CM:423.3 xref: MESH:D002305 xref: NCI:C50481 xref: SNOMEDCT_US_2023_03_01:266295005 xref: UMLS_CUI:C0007177 is_a: DOID:118 ! pericardial effusion [Term] id: DOID:1150 name: obsolete bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium alt_id: DOID:11173 alt_id: DOID:1149 alt_id: DOID:1292 synonym: "bone and joint disorder of back, pelvis and lower limbs of mother, antepartum" EXACT [] synonym: "bone and joint disorder of back, pelvis and lower limbs of mother, postpartum" EXACT [] synonym: "bone and joint disorder of back, pelvis and lower limbs of mother, with delivery" EXACT [] synonym: "bone and joint disorder of back, pelvis, and lower limbs of mother, antepartum" EXACT [] synonym: "bone and joint disorder of back, pelvis, and lower limbs of mother, postpartum" EXACT [] synonym: "bone and joint disorder of back, pelvis, and lower limbs of mother, with delivery" EXACT [] is_obsolete: true [Term] id: DOID:11502 name: mitral valve insufficiency alt_id: DOID:11737 alt_id: DOID:13947 subset: NCIthesaurus synonym: "Congenital insufficiency of mitral valve" EXACT [] synonym: "congenital mitral insufficiency" EXACT [] synonym: "congenital mitral regurgitation" EXACT [] synonym: "mitral regurgitation" EXACT [] synonym: "Mitral valve incompetence" EXACT [] xref: ICD10CM:Q23.3 xref: ICD9CM:396.3 xref: ICD9CM:746.6 xref: MESH:D008944 xref: NCI:C50888 xref: SNOMEDCT_US_2023_03_01:194736003 xref: SNOMEDCT_US_2023_03_01:194977007 xref: SNOMEDCT_US_2023_03_01:29928006 xref: UMLS_CUI:C0026266 xref: UMLS_CUI:C0158619 xref: UMLS_CUI:C0264774 is_a: DOID:61 ! mitral valve disease [Term] id: DOID:11503 name: diabetic autonomic neuropathy subset: NCIthesaurus xref: MESH:D003929 xref: NCI:C27068 xref: SNOMEDCT_US_2023_03_01:50620007 xref: UMLS_CUI:C0271686 is_a: DOID:11504 ! autonomic neuropathy [Term] id: DOID:11504 name: autonomic neuropathy subset: NCIthesaurus xref: NCI:C27033 xref: SNOMEDCT_US_2023_03_01:277879009 xref: UMLS_CUI:C0259749 is_a: DOID:11465 ! autonomic nervous system disease [Term] id: DOID:11506 name: suppurative otitis media def: "A otitis media which involves inflammation of the middle ear with infected effusion containing pus." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA129&lpg#v=onepage&q=&f=false] synonym: "Otitis media with effusion - purulent" EXACT [] synonym: "Purulent otitis media" EXACT [] xref: ICD10CM:H66.4 xref: ICD9CM:382.4 xref: MESH:D010035 xref: SNOMEDCT_US_2023_03_01:267758003 xref: UMLS_CUI:C0029888 is_a: DOID:10754 ! otitis media [Term] id: DOID:11507 name: rumination disorder def: "An eating disorder that is characterized by effortless regurgitation of most meals following consumption." [url:http\://en.wikipedia.org/wiki/Rumination_syndrome] subset: DO_rare_slim subset: NCIthesaurus synonym: "Psychogenic rumination" EXACT [] xref: GARD:7594 xref: ICD9CM:307.53 xref: MESH:D000079562 xref: NCI:C92567 xref: SNOMEDCT_US_2023_03_01:37941009 xref: UMLS_CUI:C0154575 is_a: DOID:8670 ! eating disorder [Term] id: DOID:11512 name: Budd-Chiari syndrome def: "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion." [url:https\://pubmed.ncbi.nlm.nih.gov/16971261/] synonym: "hepatic vein thrombosis" EXACT [] xref: ICD10CM:I82.0 xref: MESH:D006502 xref: MIM:600880 xref: SNOMEDCT_US_2023_03_01:195436007 xref: UMLS_CUI:C0019154 is_a: DOID:272 ! hepatic vascular disease [Term] id: DOID:11514 name: fissured tongue comment: OMIM mapping confirmed by DO. [SN]. synonym: "Congenital fissure of tongue" EXACT [] synonym: "Congenital plicated tongue" EXACT [] synonym: "Fissure of tongue" EXACT [] synonym: "Fissure of tongue, congenital" EXACT [] synonym: "Furrowed tongue" EXACT [] synonym: "geographic tongue and fissured tongue" EXACT [] synonym: "lingua plicata" EXACT [] synonym: "Plicated tongue" EXACT [] synonym: "scrotal tongue" EXACT [] synonym: "Tongue, Fissured" EXACT [] xref: ICD10CM:K14.5 xref: ICD9CM:529.5 xref: MESH:D014063 xref: MIM:137400 xref: SNOMEDCT_US_2023_03_01:52368004 xref: UMLS_CUI:C0040412 is_a: DOID:10944 ! tongue disease [Term] id: DOID:11516 name: hypertensive heart disease def: "A heart disease that is caused by high blood pressure." [url:http\://en.wikipedia.org/wiki/Heart_disease, url:http\://en.wikipedia.org/wiki/Hypertensive_heart_disease] subset: NCIthesaurus xref: ICD10CM:I11 xref: ICD9CM:402 xref: NCI:C157879 xref: SNOMEDCT_US_2023_03_01:155297007 xref: UMLS_CUI:C0152105 is_a: DOID:114 ! heart disease [Term] id: DOID:11518 name: abnormal pupillary function xref: ICD10CM:H57.09 xref: ICD9CM:379.49 xref: UMLS_CUI:C0155376 is_a: DOID:238 ! pupil disease [Term] id: DOID:11520 name: benign hypertensive renal disease synonym: "hypertensive renal disease, benign" EXACT [] synonym: "hypertensive renal disease, benign, without mention of renal failure" EXACT [] xref: ICD9CM:403.1 xref: SNOMEDCT_US_2023_03_01:193003 xref: UMLS_CUI:C0155596 is_a: DOID:1073 ! renal hypertension [Term] id: DOID:11523 name: obsolete Clostridium perfringens gastroenteritis def: "A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas." [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/00025191.htm, url:http\://www.merck.com/mmpe/sec14/ch178/ch178g.html] subset: gram-positive_bacterial_infectious_disease synonym: "Clostridium perfringens food poisoning" EXACT [] synonym: "Food poisoning due to C. welchii" EXACT [] synonym: "food poisoning due to clostridium perfringens" EXACT [] synonym: "Food poisoning due to Clostridium perfringens (disorder)" EXACT [] synonym: "Food poisoning due to Clostridium perfringens [C. welchii]" EXACT [] is_obsolete: true [Term] id: DOID:11524 name: obsolete Hyphema of iris and ciliary body is_obsolete: true [Term] id: DOID:11525 name: obsolete Iris and ciliary body vascular disorder synonym: "vascular disorder of iris and ciliary body" EXACT [] is_obsolete: true [Term] id: DOID:11527 name: laryngostenosis subset: NCIthesaurus synonym: "Stenosis of larynx" EXACT [] xref: ICD10CM:J38.6 xref: ICD9CM:478.74 xref: MESH:D007829 xref: NCI:C79608 xref: SNOMEDCT_US_2023_03_01:195864007 xref: UMLS_CUI:C0023075 is_a: DOID:786 ! laryngeal disease [Term] id: DOID:11535 name: obsolete dysplasia of prostate is_obsolete: true [Term] id: DOID:11541 name: recurrent corneal erosion synonym: "recurrent erosion of cornea" EXACT [] synonym: "recurrent erosion syndrome" EXACT [] xref: ICD10CM:H18.83 xref: ICD9CM:371.42 xref: SNOMEDCT_US_2023_03_01:2055003 xref: UMLS_CUI:C0155119 is_a: DOID:1237 ! corneal degeneration [Term] id: DOID:11543 name: corneal abscess subset: NCIthesaurus xref: ICD10CM:H16.31 xref: ICD9CM:370.55 xref: NCI:C26969 xref: SNOMEDCT_US_2023_03_01:64366002 xref: UMLS_CUI:C0155091 is_a: DOID:9858 ! deep keratitis [Term] id: DOID:11547 name: corneal deposit synonym: "Deposits - cornea" EXACT [] xref: ICD10CM:H18.00 xref: ICD9CM:371.10 xref: SNOMEDCT_US_2023_03_01:74460005 xref: UMLS_CUI:C0162281 is_a: DOID:10124 ! corneal disease [Term] id: DOID:11549 name: Adie syndrome def: "A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon." [url:http\://en.wikipedia.org/wiki/Adie_syndrome, url:http\://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Adie's%20syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Adie's pupil or syndrome" EXACT [] synonym: "Adie's pupil syndrome" EXACT [] synonym: "Adie's syndrome" EXACT [] synonym: "Holmes-Adie syndrome" EXACT [] xref: GARD:5749 xref: MESH:D000270 xref: MIM:103100 xref: NCI:C34357 xref: SNOMEDCT_US_2023_03_01:123051004 xref: UMLS_CUI:C0001519 is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:D000270" xsd:string [Term] id: DOID:11550 name: oculomotor nerve paralysis subset: NCIthesaurus synonym: "III nerve palsy" EXACT [] synonym: "IIIrd nerve Paralysis" EXACT [] synonym: "Third cranial nerve paralysis" EXACT [] xref: ICD10CM:H49.0 xref: MESH:D015840 xref: NCI:C27597 xref: SNOMEDCT_US_2023_03_01:12900003 xref: UMLS_CUI:C0028866 is_a: DOID:562 ! third cranial nerve disease [Term] id: DOID:11552 name: Bowman's membrane folds or rupture synonym: "Bowman membrane folds or rupture" EXACT [] xref: ICD10CM:H18.31 xref: ICD9CM:371.31 xref: SNOMEDCT_US_2023_03_01:45382000 xref: UMLS_CUI:C0155115 is_a: DOID:10124 ! corneal disease [Term] id: DOID:11554 name: Chandler syndrome def: "A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma." [url:https\://rarediseases.info.nih.gov/diseases/6033/chandlers-syndrome] synonym: "Chandler's syndrome" EXACT [] synonym: "Dystrophy of corneal endothelium" EXACT [] synonym: "Endothelial corneal dystrophy" EXACT [] synonym: "Posterior membrane corneal dystrophy" EXACT [] xref: MESH:D057129 xref: SNOMEDCT_US_2023_03_01:404632009 xref: UMLS_CUI:C0544008 is_a: DOID:2566 ! corneal dystrophy [Term] id: DOID:11555 name: Fuchs' endothelial dystrophy def: "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision." [url:http\://en.wikipedia.org/wiki/Fuchs%27_dystrophy, url:http\://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy, url:http\://rarediseases.info.nih.gov/gard/10018/corneal-dystrophy-fuchs-endothelial-1/resources/1, url:http\://www.mayoclinic.org/diseases-conditions/fuchs-dystrophy/basics/definition/con-20023893?_ga=1.163328703.2017809229.1415219956] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "FCED" EXACT OMO:0003012 [] synonym: "Fuchs' corneal dystrophy" EXACT [] synonym: "Fuchs' endothelial corneal dystrophy" EXACT [] xref: GARD:10018 xref: ICD10CM:H18.51 xref: MESH:D005642 xref: MIM:136800 xref: MIM:610158 xref: MIM:613267 xref: MIM:613268 xref: MIM:613269 xref: MIM:613270 xref: MIM:613271 xref: MIM:615523 xref: NCI:C84721 xref: ORDO:98974 xref: SNOMEDCT_US_2023_03_01:16949007 xref: UMLS_CUI:C0016781 is_a: DOID:0060443 ! corneal endothelial dystrophy [Term] id: DOID:11557 name: acute serous otitis media def: "A acute transudative otitis media with thin, watery and sterile effusion." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false] synonym: "acute non-suppurative otitis media - serous" EXACT [] xref: ICD10CM:H65.0 xref: ICD9CM:381.01 xref: SNOMEDCT_US_2023_03_01:11957006 xref: UMLS_CUI:C0155415 is_a: DOID:3697 ! acute transudative otitis media [Term] id: DOID:11558 name: acute allergic serous otitis media def: "A acute serous otitis media caused by an allergen." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15301306] xref: ICD9CM:381.04 xref: SNOMEDCT_US_2023_03_01:194241005 xref: UMLS_CUI:C0155418 is_a: DOID:11557 ! acute serous otitis media is_a: DOID:1205 ! allergic disease [Term] id: DOID:1156 name: chondrocalcinosis alt_id: DOID:11303 alt_id: DOID:1155 alt_id: DOID:12090 alt_id: DOID:12102 alt_id: DOID:12945 alt_id: DOID:13298 alt_id: DOID:13299 alt_id: DOID:13301 alt_id: DOID:13302 alt_id: DOID:13303 alt_id: DOID:13304 alt_id: DOID:14143 alt_id: DOID:14220 alt_id: DOID:14513 alt_id: DOID:1834 alt_id: DOID:1945 alt_id: DOID:2486 def: "An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint." [url:http\://en.wikipedia.org/wiki/Chondrocalcinosis, url:http\://my.clevelandclinic.org/disorders/pseudogout/hic_pseudogout.aspx, url:http\://www.mayoclinic.com/health/pseudogout/DS00717, url:http\://www.merckmanuals.com/professional/sec04/ch035/ch035c.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000421.htm, url:http\://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/pseudogout.asp] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "calcium pyrophosphate deposition disease" EXACT [] synonym: "pseudogout" EXACT [] xref: ICD9CM:712.1 xref: MIM:118600 xref: MIM:118610 xref: MIM:600668 xref: NCI:C34955 xref: ORDO:1416 xref: SNOMEDCT_US_2023_03_01:201624004 xref: SNOMEDCT_US_2023_03_01:201625003 xref: UMLS_CUI:C0033802 xref: UMLS_CUI:C0157852 is_a: DOID:848 ! arthritis [Term] id: DOID:11561 name: hypertensive retinopathy subset: NCIthesaurus xref: ICD10CM:H35.03 xref: ICD9CM:362.11 xref: MESH:D058437 xref: NCI:C3514 xref: SNOMEDCT_US_2023_03_01:422001004 xref: UMLS_CUI:C0152132 is_a: DOID:5679 ! retinal disease [Term] id: DOID:11563 name: retinal vasculitis def: "A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images." [url:https\://en.wikipedia.org/wiki/Retinal_vasculitis] xref: ICD10CM:H35.06 xref: ICD9CM:362.18 xref: MESH:D031300 xref: SNOMEDCT_US_2023_03_01:77628002 xref: UMLS_CUI:C0152026 is_a: DOID:2462 ! retinal vascular disease is_a: DOID:865 ! vasculitis [Term] id: DOID:11569 name: neurocirculatory asthenia def: "A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities." [url:http\://en.wikipedia.org/wiki/Da_Costa%27s_syndrome, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1277260/] synonym: "Cardiovascular malfunction arising from mental factors" EXACT [] synonym: "Cardiovascular neurosis" EXACT [] synonym: "Da Costa's syndrome" EXACT [] synonym: "Krishaber's disease" EXACT [] xref: ICD9CM:306.2 xref: MESH:D009449 xref: SNOMEDCT_US_2023_03_01:46219009 xref: UMLS_CUI:C0027821 is_a: DOID:4737 ! somatoform disorder [Term] id: DOID:11572 name: Listeria meningitis def: "A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21877182] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: zoonotic_infectious_disease xref: MESH:D008584 xref: SNOMEDCT_US_2023_03_01:230151007 xref: UMLS_CUI:C0025293 is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:11573 name: listeriosis def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001380.htm] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Infection by Listeria monocytogenes" EXACT [] synonym: "Listeria infection" EXACT [] xref: ICD10CM:A32 xref: ICD9CM:027.0 xref: MESH:D008088 xref: NCI:C82994 xref: SNOMEDCT_US_2023_03_01:186315001 xref: UMLS_CUI:C0023860 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:11574 name: streptococcal meningitis def: "A bacterial meningitis that has_material_basis_in streptococcal bacteria." [url:https\://medlineplus.gov/ency/article/000607.htm] subset: DO_infectious_disease_slim xref: ICD10CM:G00.2 xref: ICD9CM:320.2 xref: SNOMEDCT_US_2023_03_01:4510004 xref: UMLS_CUI:C0154639 is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:11575 name: obsolete pneumococcal meningitis subset: gram-positive_bacterial_infectious_disease synonym: "Pneumococcal meningitis" EXACT [] synonym: "Pneumococcal meningitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11577 name: Cauda equina syndrome def: "A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord." [url:http\://en.wikipedia.org/wiki/Cauda_equina_syndrome] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10987 xref: ICD10CM:G83.4 xref: ICD9CM:344.6 xref: MESH:D000077684 xref: NCI:C35436 xref: SNOMEDCT_US_2023_03_01:89356000 xref: UMLS_CUI:C0392548 is_a: DOID:225 ! syndrome is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:11578 name: obsolete Escherichia coli meningitis subset: gram-negative_bacterial_infectious_disease synonym: "Escherichia coli meningitis (disorder)" EXACT [] synonym: "Meningitis due to E. coli" EXACT [] is_obsolete: true [Term] id: DOID:11581 name: phlyctenulosis synonym: "Phlyctenular keratoconjunctivitis" EXACT [] synonym: "Strumous ophthalmia" EXACT [] xref: ICD10CM:H16.25 xref: ICD9CM:370.31 xref: SNOMEDCT_US_2023_03_01:193773009 xref: UMLS_CUI:C0155080 is_a: DOID:9368 ! keratoconjunctivitis [Term] id: DOID:11582 name: obsolete syphilitic aortitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilitic aortitis" EXACT [] synonym: "Syphilitic aortitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11584 name: obsolete acute schizophrenic episode in remission is_obsolete: true [Term] id: DOID:11589 name: Riley-Day syndrome def: "A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31." [url:https\://pubmed.ncbi.nlm.nih.gov/26769677/] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "familial autonomic nervous dysfunction" EXACT [] synonym: "familial dysautonomia" EXACT [] synonym: "HSAN III" EXACT OMO:0003012 [] xref: ICD10CM:G90.1 xref: MESH:D004402 xref: MIM:223900 xref: NCI:C84706 xref: SNOMEDCT_US_2023_03_01:204087006 xref: UMLS_CUI:C0013364 is_a: DOID:0050548 ! hereditary sensory neuropathy [Term] id: DOID:1159 name: functional gastric disease xref: ICD9CM:536.8 xref: UMLS_CUI:C0013396 is_a: DOID:76 ! stomach disease [Term] id: DOID:11593 name: bladder lateral wall cancer subset: NCIthesaurus synonym: "Lateral Wall of bladder" EXACT [] synonym: "malignant neoplasm of lateral wall of urinary bladder" EXACT [] xref: ICD10CM:C67.2 xref: ICD9CM:188.2 xref: NCI:C12333 xref: SNOMEDCT_US_2023_03_01:93863000 xref: UMLS_CUI:C0496828 is_a: DOID:11054 ! urinary bladder cancer [Term] id: DOID:11594 name: ring staphyloma xref: ICD10CM:H15.85 xref: ICD9CM:379.15 xref: SNOMEDCT_US_2023_03_01:5299007 xref: UMLS_CUI:C0155363 is_a: DOID:11595 ! scleral staphyloma [Term] id: DOID:11595 name: scleral staphyloma synonym: "Scleral ectasia" EXACT [] xref: SNOMEDCT_US_2023_03_01:111534007 xref: UMLS_CUI:C0155359 is_a: DOID:11343 ! scleral disease [Term] id: DOID:11597 name: obsolete cold injury syndrome of newborn synonym: "Cold injury syndrome of newborn (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11599 name: Frey syndrome def: "An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways." [url:https\://pubmed.ncbi.nlm.nih.gov/12269550/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Baillarger syndrome" EXACT [] synonym: "gustatory hyperhidrosis" EXACT [] synonym: "gustatory sweating" EXACT [] xref: GARD:6467 xref: MESH:D013547 xref: MIM:144100 xref: SNOMEDCT_US_2023_03_01:56046002 xref: UMLS_CUI:C0038994 is_a: DOID:11465 ! autonomic nervous system disease [Term] id: DOID:116 name: pericardium cancer alt_id: DOID:5780 subset: NCIthesaurus synonym: "malignant neoplasm of pericardium" EXACT [] synonym: "malignant tumor of Pericardium" EXACT [] synonym: "Pericardial tumor" EXACT [] xref: ICD10CM:C38.0 xref: NCI:C4567 xref: NCI:C4651 xref: SNOMEDCT_US_2023_03_01:126734005 xref: SNOMEDCT_US_2023_03_01:93957005 xref: UMLS_CUI:C0346609 xref: UMLS_CUI:C0349574 is_a: DOID:0050829 ! pericardium disease is_a: DOID:117 ! heart cancer [Term] id: DOID:11600 name: obsolete secondary malignant neoplasm of lymph nodes of multiple site synonym: "secondary and unspecified malignant neoplasm lymph nodes of multiple regions (disorder)" EXACT [] synonym: "secondary and unspecified malignant neoplasm of lymph nodes in multiple sites (disorder)" EXACT [] synonym: "secondary and unspecified malignant neoplasm of lymph nodes of multiple sites" EXACT [] synonym: "secondary malignant neoplasm of lymph nodes of multiple sites (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11603 name: infant gynecomastia def: "A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age." [url:https\://www.aafp.org/afp/2012/0401/p716.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/28260521] subset: NCIthesaurus synonym: "breast engorgement in newborn" EXACT [] synonym: "Neonatal gynaecomastia" EXACT [] xref: ICD10CM:P83.4 xref: ICD9CM:778.7 xref: MESH:D006177 xref: NCI:C117312 xref: SNOMEDCT_US_2023_03_01:34831003 xref: UMLS_CUI:C1449721 is_a: DOID:3463 ! breast disease [Term] id: DOID:11604 name: obsolete idiopathic hydrops fetalis synonym: "Hydrops fetalis not due to isoimmunization" EXACT [] synonym: "Idiopathic hydrops fetalis (disorder)" EXACT [] synonym: "Idiopathic hydrops fetalis (disorder) [Ambiguous]" EXACT [] synonym: "Non-immune hydrops fetalis" EXACT [] synonym: "Non-immune hydrops fetalis (disorder)" EXACT [] synonym: "Perinatal skin prob. NOS" EXACT [] is_obsolete: true [Term] id: DOID:11606 name: obsolete ileal disease is_obsolete: true [Term] id: DOID:11607 name: obsolete candidal meningitis def: "A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses." [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/, url:http\://www.nature.com/jp/journal/v27/n2/pdf/7211628a.pdf] synonym: "Candida meningitis" EXACT [] synonym: "Candidal meningitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11608 name: fungal meningitis def: "A meningitis that has_material_basis_in a fungal infection." [url:https\://en.wikipedia.org/wiki/Fungal_meningitis] subset: DO_infectious_disease_slim xref: MESH:D016921 xref: SNOMEDCT_US_2023_03_01:24321005 xref: UMLS_CUI:C0085438 is_a: DOID:1564 ! fungal infectious disease is_a: DOID:9471 ! meningitis [Term] id: DOID:11612 name: polycystic ovary syndrome def: "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight." [url:http\://ghr.nlm.nih.gov/glossary=polycysticovarysyndrome, url:https\://en.wikipedia.org/wiki/Polycystic_ovary_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/28791858, url:https\://www.ncbi.nlm.nih.gov/pubmed/20591140] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Multicystic ovaries" EXACT [] synonym: "PCOS" EXACT OMO:0003012 [] synonym: "Polycystic Ovarian disease" EXACT [] synonym: "Polycystic ovaries" EXACT [] synonym: "polycystic ovary" EXACT [] synonym: "Stein-Leventhal synd." EXACT [] synonym: "Stein-Leventhal syndrome" EXACT [] xref: EFO:0000660 xref: ICD10CM:E28.2 xref: ICD9CM:256.4 xref: MESH:D011085 xref: MIM:184700 xref: NCI:C26862 xref: SNOMEDCT_US_2023_03_01:69878008 xref: UMLS_CUI:C0032460 is_a: DOID:1414 ! ovarian dysfunction [Term] id: DOID:11613 name: hyperandrogenism synonym: "hyperandrogenization syndrome" EXACT [] xref: MESH:D017588 xref: SNOMEDCT_US_2023_03_01:237793004 xref: UMLS_CUI:C0206081 is_a: DOID:1923 ! disorder of sexual development [Term] id: DOID:11615 name: penile cancer alt_id: DOID:11614 subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "Ca penis" EXACT [] synonym: "malignant neoplasm of body of penis" EXACT [] synonym: "malignant Penile tumor" EXACT [] synonym: "Penile Ca" EXACT [] synonym: "penile neoplasm" EXACT [] xref: ICD10CM:C60 xref: ICD10CM:C60.2 xref: ICD9CM:187.3 xref: ICD9CM:187.4 xref: MESH:D010412 xref: NCI:C7547 xref: SNOMEDCT_US_2023_03_01:93716006 xref: SNOMEDCT_US_2023_03_01:93954003 xref: UMLS_CUI:C0153600 xref: UMLS_CUI:C0153601 is_a: DOID:1529 ! penile disease is_a: DOID:3856 ! male reproductive organ cancer [Term] id: DOID:11623 name: dental pulp necrosis def: "A dental pulp disease characterized by death of the pulp tissue." [url:https\://pubmed.ncbi.nlm.nih.gov/3867505/, url:https\://www.aae.org/specialty/wp-content/uploads/sites/2/2017/07/endodonticdiagnosisfall2013.pdf, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481543/] synonym: "necrosis of the pulp" EXACT [] synonym: "necrotic pulp" EXACT [] synonym: "pulp necrosis" EXACT [] xref: ICD10CM:K04.1 xref: ICD9CM:522.1 xref: MESH:D003790 xref: SNOMEDCT_US_2023_03_01:196332000 xref: UMLS_CUI:C0011407 is_a: DOID:5330 ! dental pulp disease [Term] id: DOID:11624 name: penile benign neoplasm subset: NCIthesaurus synonym: "neoplasm of penis" EXACT [] synonym: "Penile tumor" EXACT [] xref: MESH:D010412 xref: NCI:C3317 xref: SNOMEDCT_US_2023_03_01:126896003 xref: UMLS_CUI:C0030849 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:1529 ! penile disease [Term] id: DOID:11629 name: pelvic muscle wasting def: "A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two." [url:https\://pubmed.ncbi.nlm.nih.gov/27219835/] xref: ICD10CM:N81.84 xref: ICD9CM:618.83 xref: UMLS_CUI:C1456255 is_a: DOID:1284 ! prolapse of female genital organ [Term] id: DOID:11633 name: thyroid hormone resistance syndrome comment: OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus synonym: "Generalized thyroid hormone resistance" EXACT [] synonym: "Refetoff syndrome" EXACT [] synonym: "thyroid hormone resistance" EXACT [] synonym: "Thyroid hormone responsiveness defect" EXACT [] xref: MESH:D018382 xref: MIM:188570 xref: MIM:274300 xref: NCI:C85191 xref: SNOMEDCT_US_2023_03_01:50375007 xref: UMLS_CUI:C2940786 is_a: DOID:1459 ! hypothyroidism [Term] id: DOID:11634 name: myxedema comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus xref: ICD10CM:E03.9 xref: MESH:D009230 xref: MIM:255900 xref: NCI:C34834 xref: SNOMEDCT_US_2023_03_01:190274003 xref: UMLS_CUI:C0027145 is_a: DOID:1459 ! hypothyroidism [Term] id: DOID:11637 name: accommodative spasm synonym: "Spasm of accommodation" EXACT [] xref: ICD10CM:H52.53 xref: ICD9CM:367.53 xref: SNOMEDCT_US_2023_03_01:30069002 xref: UMLS_CUI:C0152196 is_a: DOID:10034 ! eye accommodation disease [Term] id: DOID:11638 name: presbyopia xref: ICD10CM:H52.4 xref: ICD9CM:367.4 xref: MESH:D011305 xref: SNOMEDCT_US_2023_03_01:155135005 xref: UMLS_CUI:C0033075 is_a: DOID:10034 ! eye accommodation disease [Term] id: DOID:11649 name: obsolete transitory tachypnea of newborn synonym: "Idiopathic tachypnea of newborn" EXACT [] synonym: "Transitory tachypnea of newborn (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11650 name: bronchopulmonary dysplasia alt_id: DOID:11651 def: "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems." [url:https\://www.nhlbi.nih.gov/health/bronchopulmonary-dysplasia] subset: NCIthesaurus synonym: "Bronchopulmonary dysplasia of newborn" EXACT [] synonym: "Chronic lung disease of prematurity" EXACT [] synonym: "Neonatal chronic lung disease" EXACT [] synonym: "neonatal chronic respiratory disease" EXACT [] synonym: "Perinatal bronchopulmonary dysplasia" EXACT [] synonym: "Respiratory insufficiency" EXACT [] xref: ICD10CM:P27.1 xref: MESH:D001997 xref: NCI:C90599 is_a: DOID:850 ! lung disease [Term] id: DOID:11653 name: conjunctival deposit xref: ICD10CM:H11.11 xref: ICD9CM:372.56 xref: SNOMEDCT_US_2023_03_01:62660000 xref: UMLS_CUI:C0162280 is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:11654 name: obsolete nevus of ota synonym: "Naevus fuscocerulophthalmomaxillaris" EXACT [] synonym: "Naevus fusoceruleus ophthalmomaxillaris" EXACT [] synonym: "nevus of Ota (disorder)" EXACT [] synonym: "Oculocutaneous melanocytic nevus" EXACT [] synonym: "Oculodermal malanocytosis" EXACT [] synonym: "primary acquired melanosis" EXACT [] synonym: "primary acquired melanosis of conjunctiva (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11656 name: cicatricial pemphigoid alt_id: DOID:11655 def: "A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin." [url:http\://en.wikipedia.org/wiki/Cicatricial_pemphigoid, url:http\://www.merckmanuals.com/professional/eye_disorders/conjunctival_and_scleral_disorders/cicatricial_pemphigoid.html] subset: DO_rare_slim subset: NCIthesaurus synonym: "benign mucous membrane pemphigoid" EXACT [] synonym: "benign mucous membrane pemphigoid with ocular involvement" EXACT [] synonym: "Cicatricial pemphigoid with ocular involvement" EXACT [] synonym: "Ocular pemphigoid" EXACT [] synonym: "ocular pemphigus" EXACT [] xref: GARD:5913 xref: ICD10CM:L12.1 xref: ICD9CM:694.6 xref: ICD9CM:694.61 xref: MESH:D010390 xref: MIM:164185 xref: NCI:C34907 xref: SNOMEDCT_US_2023_03_01:34250006 xref: SNOMEDCT_US_2023_03_01:76092003 xref: UMLS_CUI:C0030804 xref: UMLS_CUI:C0157721 is_a: DOID:0080841 ! pemphigoid [Term] id: DOID:1166 name: palindromic rheumatism alt_id: DOID:1165 alt_id: DOID:1177 alt_id: DOID:1178 alt_id: DOID:1179 alt_id: DOID:12951 alt_id: DOID:13354 alt_id: DOID:13355 alt_id: DOID:13771 def: "An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms." [url:http\://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm, url:http\://en.wikipedia.org/wiki/Palindromic_rheumatism, url:http\://www.palindromicrheumatism.org/, url:https\://rarediseases.info.nih.gov/diseases/7304/palindromic-rheumatism, url:https\://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/expert-answers/palindromic-rheumatism/faq-20058516] subset: DO_rare_slim synonym: "Hench's syndrome" EXACT [] synonym: "Hench-Rosenberg syndrome" EXACT [] xref: GARD:7304 xref: ICD10CM:M12.3 xref: ICD9CM:719.3 xref: ICD9CM:719.31 xref: MESH:C538103 xref: SNOMEDCT_US_2023_03_01:202455001 xref: SNOMEDCT_US_2023_03_01:202457009 xref: UMLS_CUI:C0085574 xref: UMLS_CUI:C0158178 is_a: DOID:848 ! arthritis [Term] id: DOID:11661 name: blue color blindness def: "A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function." [url:http\://www.omim.org/entry/190900, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629, url:https\://www.ncbi.nlm.nih.gov/pubmed/2788922] comment: OMIM mapping confirmed by DO. [SN]. synonym: "Tritan defect" EXACT [] synonym: "Tritanopia" EXACT [] xref: ICD10CM:H53.55 xref: ICD9CM:368.53 xref: MESH:D003117 xref: MIM:190900 xref: SNOMEDCT_US_2023_03_01:51886007 xref: UMLS_CUI:C0155017 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13399 ! color blindness [Term] id: DOID:11662 name: obsolete color vision defect is_obsolete: true [Term] id: DOID:11664 name: nephrosclerosis subset: DO_rare_slim synonym: "renal sclerosis" EXACT [] xref: GARD:7179 xref: ICD10CM:I12 xref: ICD9CM:587 xref: MESH:D009400 xref: SNOMEDCT_US_2023_03_01:194773000 xref: UMLS_CUI:C0027719 is_a: DOID:1073 ! renal hypertension [Term] id: DOID:11665 name: Patau syndrome comment: OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus synonym: "D1 Trisomy" EXACT [] synonym: "Patau's syndrome" RELATED [] synonym: "trisomy 13" EXACT [] xref: ICD10CM:Q91.7 xref: ICD9CM:758.1 xref: MESH:D000073839 xref: NCI:C101223 xref: SNOMEDCT_US_2023_03_01:21111006 xref: UMLS_CUI:C0152095 is_a: DOID:0080014 ! chromosomal disease [Term] id: DOID:11668 name: hypopigmentation of eyelid def: "A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances." [url:https\://en.wikipedia.org/wiki/Vitiligo, url:https\://www.aafp.org/afp/1998/0601/p2695.html] xref: ICD10CM:H02.73 xref: ICD9CM:374.53 xref: SNOMEDCT_US_2023_03_01:193958004 xref: UMLS_CUI:C0155212 is_a: DOID:10123 ! pigmentation disease is_a: DOID:530 ! eyelid disease [Term] id: DOID:11669 name: hypertrichosis of eyelid xref: ICD10CM:H02.86 xref: ICD9CM:374.54 xref: SNOMEDCT_US_2023_03_01:79830009 xref: UMLS_CUI:C0155213 is_a: DOID:420 ! hypertrichosis is_a: DOID:530 ! eyelid disease [Term] id: DOID:11671 name: hypotrichosis of eyelid xref: ICD10CM:H02.72 xref: ICD9CM:374.55 xref: SNOMEDCT_US_2023_03_01:193959007 xref: UMLS_CUI:C0155214 is_a: DOID:4535 ! hypotrichosis is_a: DOID:530 ! eyelid disease [Term] id: DOID:11678 name: onchocerciasis def: "A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Infection by Onchocerca volvulus" EXACT [] synonym: "Onchocerca volvulus infection" EXACT [] synonym: "volvulosis" EXACT [] xref: GARD:7252 xref: ICD10CM:B73 xref: ICD9CM:125.3 xref: MESH:D009855 xref: NCI:C34861 xref: SNOMEDCT_US_2023_03_01:38539003 xref: UMLS_CUI:C0029001 is_a: DOID:1080 ! filariasis [Term] id: DOID:1168 name: familial hyperlipidemia alt_id: DOID:3147 subset: NCIthesaurus synonym: "familial hyperlipoproteinemia" EXACT [] synonym: "hyperlipemia" EXACT [] synonym: "hyperlipidaemia" RELATED [] xref: ICD10CM:E78.5 xref: MESH:D006949 xref: MESH:D006951 xref: NCI:C34707 xref: NCI:C34709 xref: SNOMEDCT_US_2023_03_01:154739000 xref: SNOMEDCT_US_2023_03_01:3744001 xref: UMLS_CUI:C0020473 xref: UMLS_CUI:C0020476 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:11680 name: obsolete ocular onchocerciasis def: "A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness." [url:http\://en.wikipedia.org/wiki/Onchocerciasis] synonym: "Ocular Onchocerciasis" EXACT [] synonym: "Ocular onchocerciasis (disorder)" EXACT [] synonym: "river blindness" EXACT [] is_obsolete: true [Term] id: DOID:11683 name: obsolete glaucoma associated with systemic syndromes synonym: "Glaucoma associated with systemic syndromes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11684 name: melanoacanthoma subset: NCIthesaurus xref: NCI:C27548 xref: SNOMEDCT_US_2023_03_01:201096007 xref: UMLS_CUI:C1321683 is_a: DOID:6498 ! seborrheic keratosis [Term] id: DOID:11685 name: inflamed seborrheic keratosis xref: ICD10CM:L82.0 xref: ICD9CM:702.11 xref: SNOMEDCT_US_2023_03_01:442348004 xref: UMLS_CUI:C0376117 is_a: DOID:6498 ! seborrheic keratosis [Term] id: DOID:11693 name: acute apical periodontitis synonym: "acute apical periodontitis of pulpal origin" EXACT [] xref: ICD10CM:K04.4 xref: ICD9CM:522.4 xref: SNOMEDCT_US_2023_03_01:88071000 xref: UMLS_CUI:C0155934 is_a: DOID:823 ! periapical periodontitis [Term] id: DOID:11695 name: portal vein thrombosis def: "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein." [url:http\://en.wikipedia.org/wiki/Portal_vein_thrombosis] subset: NCIthesaurus xref: ICD10CM:I81 xref: ICD9CM:452 xref: NCI:C78565 xref: SNOMEDCT_US_2023_03_01:155455003 xref: UMLS_CUI:C0155773 is_a: DOID:0060903 ! thrombosis is_a: DOID:272 ! hepatic vascular disease is_a: DOID:866 ! vein disease [Term] id: DOID:11696 name: obsolete chronic hypomanic disorder synonym: "chronic hypomanic personality disorder" EXACT [] is_obsolete: true [Term] id: DOID:11699 name: obsolete intrathoracic lymph node tuberculosis def: "A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe." [url:http\://ep.bmjjournals.com/cgi/reprint/91/1/ep1] subset: gram-positive_bacterial_infectious_disease synonym: "Tuberculosis of intrathoracic lymph nodes (disorder)" EXACT [] synonym: "Tuberculosis of intrathoracic lymph nodes NOS (disorder)" EXACT [] synonym: "Tuberculosis of intrathoracic lymph nodes, unspecified examination" EXACT [] is_obsolete: true [Term] id: DOID:117 name: heart cancer alt_id: DOID:9918 def: "A cardiovascular cancer located_in the heart." [url:http\://en.wikipedia.org/wiki/Heart_cancer] subset: DO_rare_slim subset: NCIthesaurus synonym: "Cardiac tumor" EXACT [] synonym: "malignant Cardiac tumor" EXACT [] synonym: "malignant neoplasm of heart" EXACT [] synonym: "Tumour of heart" EXACT [] xref: GARD:2619 xref: ICD10CM:C38.0 xref: ICD9CM:164.1 xref: MESH:D006338 xref: NCI:C3081 xref: NCI:C3548 xref: SNOMEDCT_US_2023_03_01:126730001 xref: SNOMEDCT_US_2023_03_01:93825008 xref: UMLS_CUI:C0018809 xref: UMLS_CUI:C0153500 is_a: DOID:114 ! heart disease is_a: DOID:176 ! cardiovascular cancer is_a: DOID:5093 ! thoracic cancer [Term] id: DOID:11701 name: selective IgA deficiency disease def: "A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract." [url:http\://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency] synonym: "Immunoglobulin A deficiency" EXACT [] synonym: "selective IgA immunodeficiency" EXACT [] synonym: "Selective immunoglobulin A deficiency" EXACT [] xref: MESH:D017098 xref: SNOMEDCT_US_2023_03_01:29260007 xref: UMLS_CUI:C0162538 is_a: DOID:11702 ! dysgammaglobulinemia [Term] id: DOID:11702 name: dysgammaglobulinemia def: "A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins." [url:http\://en.wikipedia.org/wiki/Dysgammaglobulinemia] xref: MESH:D004406 xref: SNOMEDCT_US_2023_03_01:127389001 xref: UMLS_CUI:C0013374 is_a: DOID:6025 ! selective immunoglobulin deficiency disease property_value: exactMatch "MESH:D004406" xsd:string [Term] id: DOID:11705 name: obsolete impaired renal function disease is_obsolete: true [Term] id: DOID:1171 name: hyperlipoproteinemia type V comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "familial hyperlipoproteinemia type V" EXACT [] synonym: "familial type 5 hyperlipoproteinemia" EXACT [] synonym: "Fredrickson type V lipaemia" EXACT [] xref: MESH:D006954 xref: MIM:144650 xref: NCI:C35645 xref: SNOMEDCT_US_2023_03_01:34349009 xref: UMLS_CUI:C0020481 is_a: DOID:1168 ! familial hyperlipidemia [Term] id: DOID:11711 name: obsolete Pregnancy in Diabetics synonym: "Diabetes in Pregnancy" EXACT [] synonym: "Diabetes mellitus, antepartum" EXACT [] synonym: "pregnancy diabetes" EXACT [] is_obsolete: true [Term] id: DOID:11712 name: lipoatrophic diabetes mellitus def: "A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy." [url:http\://en.wikipedia.org/wiki/Lipoatrophic_diabetes] subset: NCIthesaurus synonym: "lipoatrophic diabetes" EXACT [] xref: MESH:D003923 xref: NCI:C34537 xref: SNOMEDCT_US_2023_03_01:408543001 xref: UMLS_CUI:C0011859 is_a: DOID:9352 ! type 2 diabetes mellitus [Term] id: DOID:11713 name: diabetic angiopathy alt_id: DOID:10182 def: "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes." [url:https\://en.wikipedia.org/wiki/Diabetic_angiopathy] subset: NCIthesaurus synonym: "diabetic peripheral angiopathy" EXACT [] synonym: "Diabetic vascular disorder" EXACT [] xref: ICD9CM:250.7 xref: MESH:D003925 xref: NCI:C35610 xref: SNOMEDCT_US_2023_03_01:127014009 xref: UMLS_CUI:C0011871 xref: UMLS_CUI:C0011875 is_a: DOID:341 ! peripheral vascular disease [Term] id: DOID:11714 name: gestational diabetes def: "A diabetes mellitus that manifests during pregnancy." [url:https\://pubmed.ncbi.nlm.nih.gov/26824237/] subset: NCIthesaurus synonym: "GDM" EXACT OMO:0003012 [] synonym: "Gestational diabetes mellitus" EXACT [] synonym: "Maternal gestational diabetes mellitus" EXACT [] xref: EFO:0004593 xref: ICD10CM:O24.4 xref: MESH:D016640 xref: NCI:C34942 xref: SNOMEDCT_US_2023_03_01:11687002 xref: UMLS_CUI:C0085207 is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:11716 name: prediabetes syndrome def: "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes." [url:https\://pubmed.ncbi.nlm.nih.gov/26280340/] subset: NCIthesaurus synonym: "impaired glucose tolerance" EXACT [] synonym: "Prediabetes" EXACT [] synonym: "prediabetic state" EXACT [] xref: ICD10CM:R73.03 xref: MESH:D011236 xref: NCI:C122685 xref: SNOMEDCT_US_2023_03_01:15777000 xref: UMLS_CUI:C0362046 is_a: DOID:4194 ! glucose metabolism disease [Term] id: DOID:11717 name: neonatal diabetes def: "A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928785/] subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "diabetes mellitus syndrome in newborn infant" EXACT [] synonym: "neonatal diabetes mellitus" EXACT [] xref: ICD10CM:P70.2 xref: ICD9CM:775.1 xref: NCI:C99248 xref: SNOMEDCT_US_2023_03_01:49817004 xref: UMLS_CUI:C0158981 is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:11718 name: antidepressant type abuse def: "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences." [url:http\://en.wikipedia.org/wiki/Antidepressant] xref: ICD9CM:305.8 xref: UMLS_CUI:C0154540 is_a: DOID:302 ! substance abuse [Term] id: DOID:11719 name: oculopharyngeal muscular dystrophy comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "Muscular dystrophy, oculopharyngeal" EXACT [] xref: ICD10CM:G71.09 xref: MESH:D039141 xref: MIM:164300 xref: NCI:C84942 xref: SNOMEDCT_US_2023_03_01:77097004 xref: UMLS_CUI:C0270952 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:1172 name: hyperlipoproteinemia type IV alt_id: DOID:0050527 comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Endogenous hyperlipidaemia" EXACT [] synonym: "familial hypertriglyceridemia" EXACT [] synonym: "Fredrickson type IV hyperlipoproteinemia" EXACT [] synonym: "Fredrickson type IV lipidaemia" EXACT [] synonym: "Fredrickson type IV Lipidemia" EXACT [] synonym: "VLDL hyperlipoproteinemia" EXACT [] xref: ICD10CM:E78.1 xref: ICD9CM:272.1 xref: MESH:D006953 xref: MIM:144600 xref: MIM:145750 xref: NCI:C34711 xref: SNOMEDCT_US_2023_03_01:154741004 xref: UMLS_CUI:C0020480 is_a: DOID:1168 ! familial hyperlipidemia [Term] id: DOID:11720 name: distal myopathy def: "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands." [url:https\://rarediseases.org/rare-diseases/distal-myopathy/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "distal muscular dystrophy" EXACT [] xref: ICD10CM:G71.09 xref: MESH:D049310 xref: MIM:PS160500 xref: NCI:C84675 xref: ORDO:399096 xref: ORDO:5448 xref: ORDO:59135 xref: SNOMEDCT_US_2023_03_01:58795000 xref: UMLS_CUI:C0751336 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11721 name: glycogen storage disease VII def: "A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13." [url:https\://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii/] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Glycogen storage disease 7" EXACT [] synonym: "glycogen storage disease type VII" EXACT [] synonym: "Glycogen storage disease, type VII" EXACT [] synonym: "Muscle phosphofructokinase deficiency" EXACT [] synonym: "phosphofructokinase myopathy" EXACT [] xref: ICD10CM:E74.09 xref: MESH:D006014 xref: MIM:232800 xref: NCI:C118437 xref: SNOMEDCT_US_2023_03_01:89597008 xref: UMLS_CUI:C0017926 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:11722 name: myotonic dystrophy type 1 def: "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region." [url:http\://en.wikipedia.org/wiki/Myotonic_dystrophy, url:http\://ghr.nlm.nih.gov/condition/myotonic-dystrophy, url:http\://omim.org/entry/160900, url:http\://www.genome.gov/25521207, url:http\://www.ncbi.nlm.nih.gov/books/NBK1165/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "congenital myotonic dystrophy" EXACT [] synonym: "Dystrophia myotonica" EXACT [] synonym: "myotonic dystrophy of Steinert" EXACT [] synonym: "Steinert disease" EXACT [] xref: GARD:8310 xref: ICD10CM:G71.11 xref: ICD9CM:359.21 xref: MESH:D009223 xref: MIM:160900 xref: NCI:C84914 xref: SNOMEDCT_US_2023_03_01:1177122009 xref: UMLS_CUI:C0027126 is_a: DOID:450 ! myotonic disease [Term] id: DOID:11723 name: Duchenne muscular dystrophy def: "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy." [url:http\://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy, url:http\://omim.org/entry/300377, url:http\://www.genome.gov/19518854] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Muscular dystrophy, Duchenne" EXACT [] xref: GARD:6291 xref: MESH:D020388 xref: MIM:310200 xref: NCI:C75482 xref: SNOMEDCT_US_2023_03_01:155095006 xref: UMLS_CUI:C0013264 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11724 name: limb-girdle muscular dystrophy def: "A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles." [url:http\://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy, url:http\://www.ncbi.nlm.nih.gov/books/NBK1408/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Erb's muscular dystrophy" EXACT [] synonym: "Leyden-Mbius muscular dystrophy" EXACT [] synonym: "limb girdle muscular dystrophy" EXACT [] xref: GARD:6907 xref: ICD10CM:G71.03 xref: MESH:D049288 xref: NCI:C84828 xref: ORDO:263 xref: SNOMEDCT_US_2023_03_01:56096001 xref: UMLS_CUI:C0686353 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11725 name: Cornelia de Lange syndrome def: "A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features." [url:http\://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome, url:http\://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome, url:http\://www.omim.org/entry/122470, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Brachmann de Lange syndrome" EXACT [] synonym: "De Lange syndrome" EXACT [] xref: GARD:10109 xref: ICD10CM:Q87.19 xref: MESH:D003635 xref: MIM:PS122470 xref: NCI:C75016 xref: ORDO:199 xref: SNOMEDCT_US_2023_03_01:40354009 xref: UMLS_CUI:C0270972 is_a: DOID:0050177 ! monogenic disease is_a: DOID:225 ! syndrome [Term] id: DOID:11726 name: Emery-Dreifuss muscular dystrophy def: "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle." [url:http\://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "EDMD" EXACT OMO:0003012 [] xref: GARD:6329 xref: MESH:D020389 xref: MIM:PS310300 xref: NCI:C84685 xref: ORDO:261 xref: SNOMEDCT_US_2023_03_01:129620000 xref: UMLS_CUI:C0410189 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11727 name: facioscapulohumeral muscular dystrophy comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Landouzy Dejerine muscular dystrophy" EXACT [] synonym: "Landouzy-Dejerine muscular dystrophy" EXACT [] synonym: "Muscular dystrophy, Landouzy-Dejerine" EXACT [] xref: GARD:9941 xref: ICD10CM:G71.02 xref: MESH:D020391 xref: NCI:C84704 xref: SNOMEDCT_US_2023_03_01:56096001 xref: UMLS_CUI:C0238288 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11729 name: Lyme disease alt_id: DOID:12233 def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system." [url:http\://www.cdc.gov/lyme/transmission/index.html] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "Bannwarth syndrome" EXACT [] synonym: "Bannworth's syndrome" EXACT [] synonym: "Lyme borreliosis" EXACT [] synonym: "lyme neuroborreliosis" EXACT [] synonym: "neuroborreliosis" EXACT [] synonym: "Neurological Lyme disease" EXACT [] xref: GARD:12073 xref: ICD10CM:A69.2 xref: ICD9CM:088.81 xref: MESH:D008193 xref: MESH:D020852 xref: NCI:C45161 xref: SNOMEDCT_US_2023_03_01:154376000 xref: SNOMEDCT_US_2023_03_01:715507005 xref: UMLS_CUI:C0024198 xref: UMLS_CUI:C0752235 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:11730 name: obsolete Borrelia infectious disease subset: gram-negative_bacterial_infectious_disease synonym: "borreliosis" EXACT [] synonym: "Borreliosis (disorder)" EXACT [] synonym: "Borreliosis, NOS" EXACT [] is_obsolete: true [Term] id: DOID:11732 name: obsolete syphilitic myocarditis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilitic myocarditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11733 name: obsolete syphilitic aortic aneurysm subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Aneurysm of aorta, specified as syphilitic" EXACT [] synonym: "Syphilitic aneurysm of aorta (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11734 name: obsolete syphilitic pericarditis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilitic pericarditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11735 name: obsolete single manic episode in full remission synonym: "Manic disorder, single episode, in full remission" EXACT [] synonym: "Single manic episode in full remission (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11736 name: odontoclasia xref: ICD9CM:521.05 xref: SNOMEDCT_US_2023_03_01:196305005 xref: UMLS_CUI:C0341004 is_a: DOID:216 ! dental caries [Term] id: DOID:11741 name: obsolete Chlamydophila pneumoniae pneumonia def: "A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress." [url:http\://en.wikipedia.org/wiki/Pneumonia, url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/chlamydiapneumonia_t.htm, url:http\://www.merck.com/mmpe/sec19/ch279/ch279l.html] subset: gram-negative_bacterial_infectious_disease synonym: "Chlamydial pneumonia (disorder)" EXACT [] synonym: "Pneumonia due to Chlamydia" EXACT [] is_obsolete: true [Term] id: DOID:11746 name: parametrium malignant neoplasm def: "A uterine adnexa cancer that is located_in the parametrium." [url:https\://www.sciencedirect.com/topics/medicine-and-dentistry/parametrium] xref: ICD10CM:C57.3 xref: ICD9CM:183.4 xref: SNOMEDCT_US_2023_03_01:93942003 xref: UMLS_CUI:C0153581 is_a: DOID:11747 ! uterine adnexa cancer [Term] id: DOID:11747 name: uterine adnexa cancer alt_id: DOID:9596 def: "A uterine cancer that is located_in the adnexa." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6043913] xref: ICD10CM:C57.4 xref: ICD9CM:183 xref: ICD9CM:183.9 xref: SNOMEDCT_US_2023_03_01:188201008 xref: SNOMEDCT_US_2023_03_01:94126000 xref: UMLS_CUI:C0153577 xref: UMLS_CUI:C0153584 is_a: DOID:363 ! uterine cancer [Term] id: DOID:11748 name: round ligament malignant neoplasm def: "A uterine adnexa cancer that is located_in the round ligament." [url:https\://pmc.ncbi.nlm.nih.gov/articles/PMC4365377/] synonym: "malignant neoplasm of round ligament" EXACT [] synonym: "malignant neoplasm of round ligament of uterus" EXACT [] xref: ICD10CM:C57.2 xref: ICD9CM:183.5 xref: SNOMEDCT_US_2023_03_01:188204000 xref: UMLS_CUI:C0346867 is_a: DOID:11747 ! uterine adnexa cancer [Term] id: DOID:11750 name: Bordetella parapertussis whooping cough def: "A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose." [url:http\://en.wikipedia.org/wiki/Pertussis] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease xref: ICD10CM:A37.1 xref: ICD9CM:033.1 xref: SNOMEDCT_US_2023_03_01:77116006 xref: UMLS_CUI:C0275742 is_a: DOID:1116 ! pertussis [Term] id: DOID:11752 name: acute endophthalmitis xref: ICD9CM:360.01 xref: SNOMEDCT_US_2023_03_01:193268004 xref: UMLS_CUI:C0154773 is_a: DOID:9724 ! purulent endophthalmitis [Term] id: DOID:11753 name: obsolete biliary calculus with acute cholecystitis is_obsolete: true [Term] id: DOID:11754 name: siderosis of eye def: "An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30787536, url:https\://www.ncbi.nlm.nih.gov/pubmed/3390063] synonym: "Siderosis of globe" EXACT [] xref: ICD10CM:H44.32 xref: ICD9CM:360.23 xref: SNOMEDCT_US_2023_03_01:25277000 xref: UMLS_CUI:C0271001 is_a: DOID:9799 ! eye degenerative disease [Term] id: DOID:11755 name: choledocholithiasis def: "A common bile duct disease characterized by the presence of at least one gallstone in the common bile duct." [url:https\://medlineplus.gov/ency/article/000274.htm, url:https\://www.ncbi.nlm.nih.gov/books/NBK441961/] xref: MESH:D042883 xref: SNOMEDCT_US_2023_03_01:197397004 xref: UMLS_CUI:C0701818 is_a: DOID:4137 ! common bile duct disease [Term] id: DOID:11756 name: obsolete calculus of bile duct with acute cholecystitis alt_id: DOID:13666 synonym: "bile duct calculus with acute cholecystitis and obstruction" EXACT [] synonym: "bile duct calculus with acute cholecystitis and obstruction (disorder)" EXACT [] synonym: "bile duct calculus with acute cholecystitis and obstruction NOS (disorder)" EXACT [] synonym: "calculus of bile duct with acute cholecystitis with obstruction (disorder)" EXACT [] synonym: "calculus of bile duct with acute cholecystitis, with obstruction" EXACT [] is_obsolete: true [Term] id: DOID:11758 name: iron deficiency anemia def: "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells." [url:https\://medlineplus.gov/ency/article/000584.htm, url:https\://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/iron-deficiency-anemia] xref: ICD9CM:280.8 xref: SNOMEDCT_US_2023_03_01:191129007 xref: UMLS_CUI:C0029810 is_a: DOID:11252 ! microcytic anemia [Term] id: DOID:11759 name: hypochromic anemia def: "An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency." [url:https\://en.wikipedia.org/wiki/Hypochromic_anemia] subset: NCIthesaurus synonym: "ANEMIA HYPOCHROMIC" EXACT [] xref: ICD10CM:D50 xref: MESH:D000747 xref: NCI:C34380 xref: SNOMEDCT_US_2023_03_01:44452003 xref: UMLS_CUI:C0002884 is_a: DOID:2355 ! anemia [Term] id: DOID:1176 name: bronchial disease alt_id: DOID:1175 alt_id: DOID:12322 def: "A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11685087] subset: DO_RAD_slim xref: MESH:D001982 xref: SNOMEDCT_US_2023_03_01:41427001 xref: UMLS_CUI:C0006261 is_a: DOID:0050161 ! lower respiratory tract disease [Term] id: DOID:11760 name: Kohler's disease def: "An osteochondrosis that results_in death and collapse located_in navicular bone of foot." [url:http\://en.wikipedia.org/wiki/K%C3%B6hler_disease] subset: DO_rare_slim synonym: "Juvenile osteochondrosis of foot" EXACT [] synonym: "Kohler disease" EXACT [] xref: GARD:6842 xref: ICD9CM:732.5 xref: SNOMEDCT_US_2023_03_01:32491009 xref: UMLS_CUI:C0158444 is_a: DOID:8125 ! osteochondrosis [Term] id: DOID:11766 name: blind hypotensive eye xref: ICD9CM:360.41 xref: SNOMEDCT_US_2023_03_01:193291000 xref: UMLS_CUI:C0154788 is_a: DOID:790 ! ocular hypotension [Term] id: DOID:11770 name: obsolete hypersecretion of testicular hormones synonym: "testicular hyperfunction" EXACT [] synonym: "testicular hyperfunction (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11771 name: spontaneous ocular nystagmus synonym: "Ocular nystagmus" EXACT [] synonym: "Searching eye movements" EXACT [] synonym: "visual deprivation nystagmus" EXACT [] xref: ICD10CM:H55.03 xref: ICD9CM:379.53 xref: MESH:D009759 xref: SNOMEDCT_US_2023_03_01:39771000 xref: UMLS_CUI:C0271384 is_a: DOID:9650 ! pathologic nystagmus [Term] id: DOID:11772 name: leukocoria synonym: "Leucocoria" EXACT [] xref: ICD10CM:H44.53 xref: ICD9CM:360.44 xref: SNOMEDCT_US_2023_03_01:193288000 xref: UMLS_CUI:C0152458 is_a: DOID:9799 ! eye degenerative disease [Term] id: DOID:11775 name: obsolete hereditary trophedema synonym: "Hereditary edema of legs" EXACT [] synonym: "Hereditary edema of legs [dup] (disorder)" EXACT [] synonym: "Hereditary edema of legs NOS (disorder)" EXACT [] synonym: "Hereditary trophedema (disorder)" EXACT [] synonym: "Hereditary trophoedeme" EXACT [] is_obsolete: true [Term] id: DOID:11776 name: absolute glaucoma def: "A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669490/] synonym: "blind hypertensive eye" EXACT [] xref: ICD9CM:360.42 xref: SNOMEDCT_US_2023_03_01:193286001 xref: UMLS_CUI:C0154789 is_a: DOID:1686 ! glaucoma [Term] id: DOID:11781 name: regular astigmatism xref: ICD10CM:H52.22 xref: ICD9CM:367.21 xref: SNOMEDCT_US_2023_03_01:68905002 xref: UMLS_CUI:C0152193 is_a: DOID:11782 ! astigmatism [Term] id: DOID:11782 name: astigmatism def: "A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision." [url:http\://en.wikipedia.org/wiki/Astigmatism_%28eye%29] comment: OMIM mapping confirmed by DO. [SN]. xref: ICD10CM:H52.2 xref: ICD9CM:367.2 xref: MESH:D001251 xref: MIM:603047 xref: SNOMEDCT_US_2023_03_01:155134009 xref: UMLS_CUI:C0004106 is_a: DOID:9835 ! refractive error [Term] id: DOID:11783 name: necrosis of ear ossicle synonym: "partial loss or necrosis of ear ossicles" EXACT [] xref: ICD9CM:385.24 xref: UMLS_CUI:C0155488 is_a: DOID:2742 ! auditory system disease [Term] id: DOID:11786 name: splenic sequestration xref: ICD9CM:289.52 xref: UMLS_CUI:C1260402 is_a: DOID:2529 ! splenic disease [Term] id: DOID:11787 name: chronic congestive splenomegaly xref: ICD10CM:D73.2 xref: ICD9CM:289.51 xref: SNOMEDCT_US_2023_03_01:191382009 xref: UMLS_CUI:C0398661 is_a: DOID:2529 ! splenic disease [Term] id: DOID:11793 name: phthisical cornea xref: ICD9CM:371.05 xref: SNOMEDCT_US_2023_03_01:193801004 xref: UMLS_CUI:C0155102 is_a: DOID:1237 ! corneal degeneration [Term] id: DOID:11797 name: chronic laryngitis def: "A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease." [url:http\://en.wikipedia.org/wiki/Laryngitis, url:http\://www.merck.com/mmhe/sec19/ch222/ch222d.html#sec19-ch222-ch222d-263] subset: NCIthesaurus xref: ICD10CM:J37.0 xref: ICD9CM:476.0 xref: NCI:C26975 xref: SNOMEDCT_US_2023_03_01:155535001 xref: UMLS_CUI:C0155836 is_a: DOID:3437 ! laryngitis [Term] id: DOID:118 name: pericardial effusion def: "A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity." [url:http\://en.wikipedia.org/wiki/Pericardial_effusion] subset: NCIthesaurus xref: MESH:D010490 xref: NCI:C3319 xref: SNOMEDCT_US_2023_03_01:70370001 xref: UMLS_CUI:C0031039 is_a: DOID:0050829 ! pericardium disease [Term] id: DOID:11801 name: protein-energy malnutrition def: "A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation." [url:https\://en.wikipedia.org/wiki/Protein%E2%80%93energy_malnutrition] subset: NCIthesaurus xref: ICD10CM:E46 xref: ICD9CM:263.9 xref: MESH:D011502 xref: NCI:C34952 xref: SNOMEDCT_US_2023_03_01:72608005 xref: UMLS_CUI:C0033677 is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:11802 name: obsolete protein deficiency synonym: "protein deficiency" EXACT [] is_obsolete: true [Term] id: DOID:11806 name: obsolete macrodactylia of fingers synonym: "Macrodactylia" EXACT [] synonym: "Macrodactylia (fingers)" EXACT [] synonym: "Macrodactylia of fingers (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11809 name: bladder neck cancer synonym: "malignant neoplasm of urinary bladder neck" EXACT [] synonym: "malignant tumor of bladder neck" EXACT [] xref: ICD10CM:C67.5 xref: ICD9CM:188.5 xref: SNOMEDCT_US_2023_03_01:188244007 xref: UMLS_CUI:C0153613 is_a: DOID:11054 ! urinary bladder cancer [Term] id: DOID:11810 name: obsolete metastatic neoplasm to the bladder synonym: "metastatic tumor to the urinary bladder" EXACT [] synonym: "secondary malignant neoplasm of bladder (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11811 name: urinary bladder posterior wall cancer synonym: "malignant neoplasm of posterior wall of urinary bladder" EXACT [] xref: ICD10CM:C67.4 xref: ICD9CM:188.4 xref: SNOMEDCT_US_2023_03_01:93972009 xref: UMLS_CUI:C0153612 is_a: DOID:11054 ! urinary bladder cancer [Term] id: DOID:11812 name: bladder sarcoma def: "A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder." [url:https\://my.clevelandclinic.org/health/diseases/16512-genitourinary-sarcomas] subset: NCIthesaurus synonym: "sarcoma of bladder" EXACT [] synonym: "sarcoma of the urinary bladder" EXACT [] xref: NCI:C4669 xref: SNOMEDCT_US_2023_03_01:278046008 xref: UMLS_CUI:C0349666 is_a: DOID:11054 ! urinary bladder cancer is_a: DOID:1115 ! sarcoma [Term] id: DOID:11813 name: bladder trigone cancer synonym: "malignant neoplasm of trigone of urinary bladder" EXACT [] synonym: "malignant tumor of trigone of bladder" EXACT [] synonym: "malignant tumor of trigone of urinary bladder" EXACT [] xref: ICD10CM:C67.0 xref: ICD9CM:188.0 xref: SNOMEDCT_US_2023_03_01:94109006 xref: UMLS_CUI:C0496826 is_a: DOID:11054 ! urinary bladder cancer [Term] id: DOID:11814 name: urinary bladder anterior wall cancer synonym: "malignant neoplasm of anterior wall of urinary bladder" EXACT [] xref: ICD10CM:C67.3 xref: ICD9CM:188.3 xref: SNOMEDCT_US_2023_03_01:93675008 xref: UMLS_CUI:C0153611 is_a: DOID:11054 ! urinary bladder cancer [Term] id: DOID:11815 name: obsolete recurrent malignant bladder neoplasm is_obsolete: true [Term] id: DOID:11816 name: vitreous syneresis synonym: "Vitreous degeneration" EXACT [] xref: ICD10CM:H43.81 xref: ICD9CM:379.21 xref: SNOMEDCT_US_2023_03_01:60189009 xref: UMLS_CUI:C0155366 is_a: DOID:9720 ! vitreous disease [Term] id: DOID:11817 name: urachus cancer subset: DO_rare_slim synonym: "malignant tumor of urachus" EXACT [] xref: GARD:7836 xref: ICD10CM:C67.7 xref: ICD9CM:188.7 xref: SNOMEDCT_US_2023_03_01:94120006 xref: UMLS_CUI:C0153615 is_a: DOID:11054 ! urinary bladder cancer [Term] id: DOID:11818 name: ureteric orifice cancer subset: NCIthesaurus synonym: "malignant neoplasm of ureteric orifice of urinary bladder" EXACT [] synonym: "malignant tumor of ureteric orifice" EXACT [] synonym: "Orifice of the Ureter" EXACT [] xref: ICD10CM:C67.6 xref: ICD9CM:188.6 xref: NCI:C12337 xref: SNOMEDCT_US_2023_03_01:188245008 xref: UMLS_CUI:C0153614 is_a: DOID:11054 ! urinary bladder cancer [Term] id: DOID:11819 name: ureter cancer def: "A urinary system cancer that is located_in the ureter." [url:http\://en.wikipedia.org/wiki/Ureter_cancer] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "malignant tumour of ureter" EXACT [] synonym: "malignant ureteral tumor" EXACT [] xref: ICD10CM:C66 xref: ICD9CM:189.2 xref: MESH:D014516 xref: MIM:191600 xref: NCI:C7543 xref: SNOMEDCT_US_2023_03_01:94121005 xref: UMLS_CUI:C0153619 is_a: DOID:1426 ! ureteral disease is_a: DOID:3996 ! urinary system cancer [Term] id: DOID:11820 name: bladder dome cancer subset: NCIthesaurus synonym: "malignant neoplasm of apex of urinary bladder" EXACT [] synonym: "malignant neoplasm of dome of urinary bladder" EXACT [] synonym: "malignant tumor of vault of bladder" EXACT [] synonym: "Superior Surface of bladder" EXACT [] xref: ICD10CM:C67.1 xref: ICD9CM:188.1 xref: NCI:C12332 xref: SNOMEDCT_US_2023_03_01:93678005 xref: UMLS_CUI:C0496827 is_a: DOID:11054 ! urinary bladder cancer [Term] id: DOID:11821 name: bladder lymphoma subset: NCIthesaurus synonym: "Lymphoma of the urinary bladder" EXACT [] xref: NCI:C6164 xref: UMLS_CUI:C1332561 is_a: DOID:0060058 ! lymphoma is_a: DOID:11054 ! urinary bladder cancer [Term] id: DOID:11823 name: hepatorenal syndrome def: "An acute kidney failure that is characterized by severe renal vasoconstriction." [url:https\://www.ncbi.nlm.nih.gov/books/NBK470565/] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6610 xref: ICD10CM:K76.7 xref: ICD9CM:572.4 xref: MESH:D006530 xref: NCI:C113400 xref: SNOMEDCT_US_2023_03_01:51292008 xref: UMLS_CUI:C0019212 is_a: DOID:3021 ! acute kidney failure [Term] id: DOID:11824 name: multicentric reticulohistiocytosis def: "A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis." [url:http\://en.wikipedia.org/wiki/Multicentric_reticulohistiocytosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/23130232] subset: DO_rare_slim subset: NCIthesaurus synonym: "Lipoid dermatoarthritis" EXACT [] xref: GARD:7103 xref: ICD10CM:E78.81 xref: NCI:C27896 xref: ORDO:139436 xref: SNOMEDCT_US_2023_03_01:84241008 xref: UMLS_CUI:C0311284 is_a: DOID:225 ! syndrome [Term] id: DOID:11828 name: obsolete visual cortex disorder due to vascular disorder is_obsolete: true [Term] id: DOID:11829 name: degenerative myopia subset: NCIthesaurus synonym: "degenerative progressive high myopia" EXACT [] synonym: "pathological myopia" EXACT [] synonym: "progressive high (degenerative) myopia" EXACT [] synonym: "progressive high myopia" EXACT [] xref: EFO:0004207 xref: ICD10CM:H44.2 xref: ICD9CM:360.21 xref: MESH:D047728 xref: NCI:C157149 xref: SNOMEDCT_US_2023_03_01:32022003 xref: UMLS_CUI:C0154778 is_a: DOID:11830 ! myopia [Term] id: DOID:1183 name: obsolete nephrotic syndrome with lesion of membranoproliferative glomerulonephritis synonym: "Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis" EXACT [] is_obsolete: true [Term] id: DOID:11830 name: myopia def: "A refractive error characterized by the inability to see farther objects clearly." [url:http\://en.wikipedia.org/wiki/Myopia, url:http\://ghr.nlm.nih.gov/glossary=myopia, url:http\://www.mayoclinic.org/diseases-conditions/nearsightedness/basics/definition/con-20027548] comment: Xref MGI. subset: NCIthesaurus synonym: "near vision" EXACT [] synonym: "near-sightedness" EXACT [] synonym: "short-sightedness" EXACT [] xref: ICD10CM:H52.1 xref: ICD9CM:367.1 xref: MESH:D009216 xref: MIM:160700 xref: MIM:255500 xref: MIM:300613 xref: MIM:310460 xref: MIM:603221 xref: MIM:608367 xref: MIM:608474 xref: MIM:608908 xref: MIM:609256 xref: MIM:609257 xref: MIM:609258 xref: MIM:609259 xref: MIM:609994 xref: MIM:609995 xref: MIM:610320 xref: MIM:612554 xref: MIM:612717 xref: MIM:613959 xref: MIM:613969 xref: MIM:614166 xref: MIM:614167 xref: MIM:615420 xref: MIM:615431 xref: MIM:615946 xref: NCI:C102533 xref: SNOMEDCT_US_2023_03_01:155133003 xref: UMLS_CUI:C0027092 is_a: DOID:9835 ! refractive error property_value: exactMatch "MESH:D009216" xsd:string [Term] id: DOID:11831 name: cortical blindness subset: NCIthesaurus xref: ICD10CM:H47.61 xref: ICD9CM:377.75 xref: MESH:D019575 xref: NCI:C118707 xref: SNOMEDCT_US_2023_03_01:68574006 xref: UMLS_CUI:C0155320 is_a: DOID:5691 ! visual cortex disease [Term] id: DOID:11832 name: visual epilepsy subset: NCIthesaurus synonym: "epilepsy, visual" EXACT [] xref: MESH:D012640 xref: NCI:C3980 xref: SNOMEDCT_US_2023_03_01:39194005 xref: UMLS_CUI:C0270824 is_a: DOID:1826 ! epilepsy [Term] id: DOID:11836 name: clubfoot alt_id: DOID:0001874 def: "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities." [url:http\://en.wikipedia.org/wiki/Club_foot, url:https\://www.ncbi.nlm.nih.gov/pubmed/17610748] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "congenital clubfoot" EXACT [] synonym: "Congenital equinovarus" EXACT [] synonym: "congenital talipes equinovarus" EXACT [] synonym: "Equinovarus deformity of foot" EXACT [] xref: ICD10CM:Q66.89 xref: ICD9CM:754.51 xref: MESH:D003025 xref: MIM:119800 xref: NCI:C84641 xref: SNOMEDCT_US_2023_03_01:33163000 xref: UMLS_CUI:C0009081 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:11837 name: obsolete malignant neoplasm of scapula and long bones of upper limb is_obsolete: true [Term] id: DOID:11838 name: penis sarcoma def: "A sarcoma and malignant neoplasm of penis that is located_in the penis." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020210/] subset: NCIthesaurus synonym: "sarcoma of penis" EXACT [] xref: NCI:C7730 xref: UMLS_CUI:C0238352 is_a: DOID:1115 ! sarcoma is_a: DOID:11615 ! penile cancer [Term] id: DOID:11839 name: glans penis cancer synonym: "malignant neoplasm of glans penis" EXACT [] synonym: "malignant tumor of glans penis" EXACT [] synonym: "malignant tumour of glans penis" EXACT [] xref: ICD10CM:C60.1 xref: ICD9CM:187.2 xref: SNOMEDCT_US_2023_03_01:93813005 xref: UMLS_CUI:C0153599 is_a: DOID:11615 ! penile cancer [Term] id: DOID:1184 name: nephrotic syndrome def: "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability." [url:https\://en.wikipedia.org/wiki/Nephrotic_syndrome, url:https\://www.niddk.nih.gov/health-information/kidney-disease/nephrotic-syndrome-adults] comment: Xref MGI. subset: NCIthesaurus xref: ICD10CM:N04 xref: ICD9CM:581 xref: MESH:D009404 xref: NCI:C34845 xref: SNOMEDCT_US_2023_03_01:155851004 xref: UMLS_CUI:C0027726 is_a: DOID:2527 ! nephrosis [Term] id: DOID:11840 name: coronary artery vasospasm subset: NCIthesaurus synonym: "Coronary artery spasm" EXACT [] synonym: "Coronary Vasospasm" EXACT [] xref: MESH:D003329 xref: NCI:C34515 xref: SNOMEDCT_US_2023_03_01:23687008 xref: UMLS_CUI:C0010073 is_a: DOID:3393 ! coronary artery disease [Term] id: DOID:11843 name: coronary artery anomaly subset: DO_rare_slim synonym: "Congenital anomaly of coronary artery" EXACT [] synonym: "Coronary artery abnormality" EXACT [] synonym: "Coronary artery anomaly, congenital" EXACT [] xref: GARD:1534 xref: ICD9CM:746.85 xref: SNOMEDCT_US_2023_03_01:28574005 xref: UMLS_CUI:C0158623 is_a: DOID:3393 ! coronary artery disease [Term] id: DOID:11847 name: coronary thrombosis synonym: "Coronary artery thrombosis" EXACT [] xref: ICD10CM:I22 xref: MESH:D003328 xref: SNOMEDCT_US_2023_03_01:66514008 xref: UMLS_CUI:C0010072 is_a: DOID:0060903 ! thrombosis is_a: DOID:3393 ! coronary artery disease [Term] id: DOID:11849 name: obsolete degenerative changes of ciliary body synonym: "Ciliary body degenerative changes (disorder)" EXACT [] synonym: "degenerative changes of ciliary body (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11850 name: transient refractive change xref: ICD9CM:367.81 xref: SNOMEDCT_US_2023_03_01:81519008 xref: UMLS_CUI:C0155000 is_a: DOID:9835 ! refractive error [Term] id: DOID:11851 name: indeterminate leprosy def: "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules." [url:https\://rarediseases.org/rare-diseases/leprosy/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875986/] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease synonym: "Uncharacteristic leprosy" EXACT [] xref: ICD10CM:A30.0 xref: ICD9CM:030.2 xref: SNOMEDCT_US_2023_03_01:14386001 xref: UMLS_CUI:C0021192 is_a: DOID:1024 ! leprosy [Term] id: DOID:11852 name: obsolete aortic valve syphilitic endocarditis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilitic endocarditis of aortic valve (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11853 name: monocular exotropia xref: ICD10CM:H50.11 xref: ICD9CM:378.11 xref: MESH:D005099 xref: SNOMEDCT_US_2023_03_01:194087008 xref: UMLS_CUI:C0152206 is_a: DOID:1143 ! exotropia [Term] id: DOID:11854 name: obsolete monocular exotropia with A pattern synonym: "Monocular exotropia with A pattern (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11855 name: obsolete intermittent monocular exotropia synonym: "Intermittent exotropia, monocular" EXACT [] synonym: "Intermittent monocular exotropia (disorder)" EXACT [] synonym: "Monocular intermittent exotropia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11856 name: obsolete monocular exotropia with V pattern synonym: "Monocular exotropia with V pattern (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11861 name: obsolete prolonged pregnancy is_obsolete: true [Term] id: DOID:11862 name: obsolete late pregnancy is_obsolete: true [Term] id: DOID:11864 name: peripheral focal chorioretinitis xref: ICD9CM:363.04 xref: SNOMEDCT_US_2023_03_01:56787009 xref: UMLS_CUI:C0339394 is_a: DOID:1979 ! focal chorioretinitis [Term] id: DOID:11868 name: obsolete chronic erythremia is_obsolete: true [Term] id: DOID:1187 name: tibial neuropathy synonym: "Posterior tibial neuropathy" EXACT [] xref: MESH:D020429 xref: SNOMEDCT_US_2023_03_01:359842002 xref: UMLS_CUI:C0751932 is_a: DOID:1188 ! mononeuropathy [Term] id: DOID:11870 name: Pick's disease def: "A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function." [url:https\://www.ncbi.nlm.nih.gov/books/NBK562226/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Dementia in Pick's disease" EXACT [] synonym: "LOBAR ATROPHY OF BRAIN" EXACT [] synonym: "Pick disease" EXACT [] synonym: "PICK DISEASE OF BRAIN" EXACT [] xref: GARD:7392 xref: ICD10CM:G31.01 xref: ICD9CM:331.11 xref: MESH:D020774 xref: MIM:172700 xref: NCI:C85008 xref: SNOMEDCT_US_2023_03_01:154998003 xref: UMLS_CUI:C0236642 is_a: DOID:9255 ! frontotemporal dementia property_value: exactMatch "MESH:D020774" xsd:string [Term] id: DOID:11871 name: macular keratitis xref: ICD10CM:H16.11 xref: ICD9CM:370.22 xref: SNOMEDCT_US_2023_03_01:2853006 xref: UMLS_CUI:C0155076 is_a: DOID:4677 ! keratitis [Term] id: DOID:11872 name: obsolete Staphylococcus aureus septicemia subset: gram-positive_bacterial_infectious_disease synonym: "Septicemia due to Staphylococcus aureus (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11873 name: obsolete staphylococcal septicemia subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:11874 name: abnormal threshold of rods synonym: "abnormal dark adaptation curve" EXACT [] xref: ICD10CM:H53.61 xref: ICD9CM:368.63 xref: SNOMEDCT_US_2023_03_01:50455002 xref: UMLS_CUI:C0155019 is_a: DOID:8499 ! night blindness [Term] id: DOID:11875 name: denture stomatitis synonym: "Denture sore mouth" EXACT [] xref: ICD10CM:K12.1 xref: MESH:D013282 xref: SNOMEDCT_US_2023_03_01:196576008 xref: UMLS_CUI:C0038364 is_a: DOID:9637 ! stomatitis [Term] id: DOID:1188 name: mononeuropathy def: "A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve." [url:https\://medlineplus.gov/ency/article/000780.htm] xref: ICD10CM:G58.9 xref: MESH:D020422 xref: SNOMEDCT_US_2023_03_01:304595001 xref: UMLS_CUI:C0494491 is_a: DOID:870 ! neuropathy [Term] id: DOID:11885 name: ureteral benign neoplasm subset: NCIthesaurus synonym: "neoplasm of ureter" EXACT [] synonym: "ureteral tumor" EXACT [] xref: MESH:D014516 xref: NCI:C3427 xref: SNOMEDCT_US_2023_03_01:126882009 xref: UMLS_CUI:C0041955 is_a: DOID:1426 ! ureteral disease is_a: DOID:731 ! urinary system benign neoplasm [Term] id: DOID:11887 name: ureter leiomyoma def: "An ureteral benign neoplasm that derives_from smooth muscle cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23894911] subset: NCIthesaurus synonym: "ureteral leiomyoma" EXACT [] xref: NCI:C6161 xref: UMLS_CUI:C1336875 is_a: DOID:11885 ! ureteral benign neoplasm is_a: DOID:127 ! leiomyoma [Term] id: DOID:11888 name: schwannoma of ureter subset: NCIthesaurus synonym: "ureteral schwannoma" EXACT [] xref: NCI:C6162 xref: UMLS_CUI:C1336877 is_a: DOID:11885 ! ureteral benign neoplasm is_a: DOID:956 ! peripheral nerve schwannoma [Term] id: DOID:11889 name: female breast nipple and areola cancer def: "A female breast cancer that is located_in the nipple and areola." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22647686] synonym: "malignant neoplasm of nipple and areola of female breast" EXACT [] synonym: "malignant neoplasm of nipple or areola of female breast" EXACT [] xref: ICD9CM:174.0 xref: SNOMEDCT_US_2023_03_01:188147009 xref: UMLS_CUI:C0024621 is_a: DOID:0050671 ! female breast cancer [Term] id: DOID:11892 name: obsolete Amoebozoa infectious disease def: "A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa." [url:http\://en.wikipedia.org/wiki/Amoebozoa] synonym: "sarcodina" RELATED [] is_obsolete: true [Term] id: DOID:11893 name: obsolete cutaneous amebiasis def: "An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16780468] synonym: "Amebic skin ulceration" EXACT [] synonym: "amebic ulcer of skin" EXACT [] synonym: "Amebic ulcer of skin (disorder)" EXACT [] synonym: "Amoebic skin ulceration" EXACT [] is_obsolete: true [Term] id: DOID:11896 name: obsolete Acanthamoeba keratitis def: "A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye." [url:http\://www.cdc.gov/acanthamoeba/disease.html] synonym: "Acanthameba keratitis" EXACT [] synonym: "Acanthamoeba keratitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11897 name: obsolete Blastocystis hominis infectious disease alt_id: DOID:0050248 def: "A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence." [] is_obsolete: true [Term] id: DOID:119 name: vaginal cancer alt_id: DOID:1902 def: "A female reproductive system cancer that is located_in the vagina." [url:http\://www.cancer.gov/dictionary?CdrID=523460] subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "malignant neoplasm of vagina" EXACT [] synonym: "malignant tumor of vagina" EXACT [] synonym: "malignant vaginal tumor" EXACT [] synonym: "neoplasm of vagina" EXACT [] synonym: "vagina neoplasm" EXACT [] synonym: "vaginal tumor" EXACT [] xref: GARD:9348 xref: ICD10CM:C52 xref: ICD9CM:184.0 xref: MESH:D014625 xref: NCI:C3437 xref: NCI:C7410 xref: SNOMEDCT_US_2023_03_01:126921000 xref: SNOMEDCT_US_2023_03_01:188210000 xref: UMLS_CUI:C0042237 xref: UMLS_CUI:C0042258 is_a: DOID:120 ! female reproductive organ cancer is_a: DOID:121 ! vaginal disease [Term] id: DOID:11902 name: obsolete cerebral amebiasis def: "An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses." [url:http\://emedicine.medscape.com/article/996092-overview, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/8126521] synonym: "amebic abscess of brain" EXACT [] synonym: "Amebic brain abscess" EXACT [] synonym: "Amebic brain abscess (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11905 name: labium majus cancer def: "A vulva cancer that is located_in the labium majus." [url:https\://pubmed.ncbi.nlm.nih.gov/16006794/] subset: NCIthesaurus synonym: "malignant neoplasm of labia majora" EXACT [] synonym: "malignant tumor of Labia Majora" EXACT [] xref: ICD10CM:C51.0 xref: ICD9CM:184.1 xref: NCI:C7638 xref: SNOMEDCT_US_2023_03_01:93850006 xref: UMLS_CUI:C0496814 is_a: DOID:1245 ! vulva cancer [Term] id: DOID:11907 name: ecthyma subset: gram-positive_bacterial_infectious_disease xref: MESH:D004473 xref: SNOMEDCT_US_2023_03_01:762694009 xref: UMLS_CUI:C0013568 is_a: DOID:8504 ! impetigo [Term] id: DOID:11914 name: gastroparesis subset: NCIthesaurus synonym: "gastric atonia" EXACT [] synonym: "Gastroparalysis" EXACT [] synonym: "Gastroparesis syndrome" EXACT [] xref: ICD10CM:K31.84 xref: ICD9CM:536.3 xref: MESH:D018589 xref: NCI:C80512 xref: SNOMEDCT_US_2023_03_01:235675006 xref: UMLS_CUI:C0152020 is_a: DOID:1159 ! functional gastric disease [Term] id: DOID:11917 name: tinea cruris def: "A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze." [url:http\://en.wikipedia.org/wiki/Tinea_cruris] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Dermatophytosis of groin & perianal area" EXACT [] synonym: "dermatophytosis of groin and perianal area" EXACT [] synonym: "Dhobie itch" EXACT [] xref: ICD9CM:110.3 xref: NCI:C34535 xref: SNOMEDCT_US_2023_03_01:59089002 xref: UMLS_CUI:C0011638 is_a: DOID:8913 ! dermatophytosis [Term] id: DOID:1192 name: peripheral nervous system neoplasm alt_id: DOID:3194 def: "A nervous system cancer that is located in the peripheral nervous system." [url:http\://en.wikipedia.org/wiki/Peripheral_nervous_system] subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "neoplasm of peripheral nerve" EXACT [] synonym: "nerve sheath neoplasm" EXACT [] synonym: "tumor of PNS" EXACT [] xref: MESH:D010524 xref: MESH:D018317 xref: NCI:C3321 xref: NCI:C4972 xref: SNOMEDCT_US_2023_03_01:126980002 xref: SNOMEDCT_US_2023_03_01:189946005 xref: UMLS_CUI:C0031118 xref: UMLS_CUI:C0206727 is_a: DOID:3093 ! nervous system cancer is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:11920 name: tracheal cancer def: "A respiratory system cancer that is located_in the trachea." [url:http\://en.wikipedia.org/wiki/Lung_cancer] subset: NCIthesaurus subset: TopNodes_DOcancerslim xref: ICD10CM:C33 xref: ICD9CM:162.0 xref: NCI:C9346 xref: SNOMEDCT_US_2023_03_01:187855003 xref: UMLS_CUI:C0153489 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:3225 ! tracheal disease [Term] id: DOID:11934 name: head and neck cancer def: "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." [url:http\://apps.who.int/bookorders/anglais/detart1.jsp?sesslan=1&codlan=1&codcol=70&codcch=9, url:http\://en.wikipedia.org/wiki/Head_and_neck_cancer, url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck, url:http\://www.cancer.gov/dictionary?CdrID=257519] subset: DO_cancer_slim subset: DO_CFDE_slim subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "head and neck neoplasm" EXACT [] synonym: "head and neck tumours" EXACT [] synonym: "head/neck neoplasm" EXACT [] synonym: "tumor of head and neck" EXACT [] xref: GARD:12425 xref: MESH:D006258 xref: NCI:C3077 xref: SNOMEDCT_US_2023_03_01:255055008 xref: UMLS_CUI:C0018671 is_a: DOID:0050686 ! organ system cancer [Term] id: DOID:11939 name: obsolete schizo-affective type schizophrenia subchronic state is_obsolete: true [Term] id: DOID:11943 name: obsolete Trichomonas vaginitis def: "A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm] synonym: "Leukorrhoea vaginalis - trichomonal" EXACT [] synonym: "Trichomonal leukorrhoea" EXACT [] synonym: "Trichomonal vaginitis &/or vulvovaginitis" EXACT [] synonym: "Trichomonal vaginitis (disorder)" EXACT [] synonym: "Trichomonal vulvovaginitis" EXACT [] synonym: "Trichomonal vulvovaginitis (disorder)" EXACT [] synonym: "vaginal trichomoniasis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11944 name: obsolete Trichomonas prostatitis def: "A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm] synonym: "Trichomonal prostatitis" EXACT [] synonym: "Trichomonal prostatitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11945 name: obsolete Trichomonas cystitis def: "A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color." [url:http\://www.merck.com/mmpe/sec14/ch194/ch194j.html] synonym: "Trichomonal cystitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11946 name: obsolete habitual abortion synonym: "Aborter - recurrent" EXACT [] synonym: "chronic spontaneous abortion" EXACT [] synonym: "Habitual aborter" EXACT [] synonym: "Habitual aborter - unspecified (disorder)" EXACT [] synonym: "Habitual aborter NOS (disorder)" EXACT [] synonym: "recurrent abortion (disorder)" EXACT [] synonym: "recurrent miscarriage" EXACT [] is_obsolete: true [Term] id: DOID:11947 name: obsolete recurrent major depression in complete remission synonym: "Major depressive disorder, recurrent episode, in full remission" EXACT [] synonym: "recurrent major depression in complete remission (disorder)" EXACT [] synonym: "recurrent major depressive episodes, in full remission (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11949 name: Creutzfeldt-Jakob disease comment: OMIM mapping confirmed by DO. [SN]. subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "CJD" EXACT OMO:0003012 [] synonym: "Creutzfeldt Jacob syndrome" EXACT [] synonym: "Creutzfeldt Jakob disease" EXACT [] synonym: "Creutzfeldt-Jacob disease" EXACT [] synonym: "Jakob-Creutzfeldt disease" EXACT [] synonym: "Subacute spongiform encephalopathy" EXACT [] synonym: "Transmissible virus dementia" EXACT [] xref: EFO:0004226 xref: GARD:6956 xref: ICD10CM:A81.0 xref: ICD9CM:046.1 xref: MESH:D007562 xref: MIM:123400 xref: NCI:C26802 xref: SNOMEDCT_US_2023_03_01:155061007 xref: UMLS_CUI:C0022336 is_a: DOID:649 ! prion disease [Term] id: DOID:1195 name: ischemic neuropathy subset: NCIthesaurus synonym: "Ischemic peripheral neuropathy" EXACT [] xref: NCI:C27025 xref: SNOMEDCT_US_2023_03_01:129611009 xref: UMLS_CUI:C0238309 is_a: DOID:870 ! neuropathy [Term] id: DOID:11950 name: obsolete Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium alt_id: DOID:11951 alt_id: DOID:11953 synonym: "antepartum congenital cardiovascular disorder of mother" EXACT [] synonym: "postpartum congenital cardiovascular disorder of mother" EXACT [] is_obsolete: true [Term] id: DOID:11952 name: obsolete Congenital cardiovascular disorder of mother, with delivery is_obsolete: true [Term] id: DOID:11954 name: obsolete psychosexual dysfunction with inhibited sexual excitement synonym: "Psychosexual Dysfunction with Inhibited Sexual Excitement" EXACT [] is_obsolete: true [Term] id: DOID:11955 name: obsolete malnutrition of moderate degree is_obsolete: true [Term] id: DOID:11963 name: esophagitis alt_id: DOID:11962 subset: NCIthesaurus synonym: "acute esophagitis" EXACT [] xref: ICD10CM:K20 xref: ICD9CM:530.1 xref: MESH:D004941 xref: NCI:C9224 xref: SNOMEDCT_US_2023_03_01:155673008 xref: UMLS_CUI:C0014868 is_a: DOID:6050 ! esophageal disease [Term] id: DOID:11964 name: obsolete Histoplasma capsulatum retinitis def: "An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1945308] synonym: "Histoplasma capsulatum with retinitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:11968 name: postmenopausal atrophic vaginitis def: "A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20003787] synonym: "atrophic vaginitis" EXACT [] synonym: "Senile vaginitis" EXACT [] xref: ICD10CM:N95.2 xref: ICD9CM:627.3 xref: SNOMEDCT_US_2023_03_01:156054004 xref: UMLS_CUI:C0156409 is_a: DOID:2170 ! vaginitis [Term] id: DOID:11970 name: obsolete symptomatic menopausal or female climacteric state is_obsolete: true [Term] id: DOID:11971 name: synostosis def: "A dysostosis that results_in abnormal fusing of adjacent bones." [url:http\://en.wikipedia.org/wiki/Synostosis, url:http\://medical-dictionary.thefreedictionary.com/synostosis] xref: MESH:D013580 xref: UMLS_CUI:C0039093 is_a: DOID:1934 ! dysostosis [Term] id: DOID:11975 name: coloboma of optic nerve comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Coloboma of optic disc" EXACT [] synonym: "Morning glory syndrome" EXACT [] xref: GARD:13354 xref: GARD:8502 xref: ICD10CM:Q14.2 xref: ICD9CM:377.23 xref: MESH:C535970 xref: MIM:120430 xref: SNOMEDCT_US_2023_03_01:44295002 xref: UMLS_CUI:C0155299 is_a: DOID:1393 ! visual pathway disease [Term] id: DOID:11976 name: botulism def: "A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F." [url:http\://en.wikipedia.org/wiki/Botulism, url:https\://en.wikipedia.org/wiki/Botulism, url:https\://www.cdc.gov/botulism/index.html] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "Botulism poisoning" EXACT [] synonym: "Food poisoning due to Clostridium botulinum" EXACT [] synonym: "Foodborne botulism" EXACT [] synonym: "Infection due to clostridium botulinum" EXACT [] synonym: "Intoxication with Clostridium botulinum toxin" EXACT [] xref: GARD:943 xref: ICD10CM:A05.1 xref: MESH:D001906 xref: NCI:C84599 xref: SNOMEDCT_US_2023_03_01:154276003 xref: UMLS_CUI:C0006057 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:11977 name: obsolete disorder of magnesium metabolism synonym: "disorder of magnesium metabolism" EXACT [] synonym: "disorder of magnesium metabolism (disorder)" EXACT [] synonym: "disorder of magnesium metabolism NOS (disorder)" EXACT [] synonym: "Magnesium disorder" EXACT [] is_obsolete: true [Term] id: DOID:11978 name: obsolete chronic pyelonephritis without lesion of renal medullary necrosis is_obsolete: true [Term] id: DOID:11981 name: morbid obesity subset: NCIthesaurus synonym: "Severe obesity" EXACT [] xref: ICD9CM:278.01 xref: MESH:D009767 xref: NCI:C34858 xref: SNOMEDCT_US_2023_03_01:389986000 xref: UMLS_CUI:C0028756 is_a: DOID:9970 ! obesity [Term] id: DOID:11983 name: Prader-Willi syndrome def: "A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity." [url:https\://ghr.nlm.nih.gov/condition/prader-willi-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1330/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Prader Willi syndrome" EXACT [] xref: GARD:5575 xref: ICD10CM:Q87.11 xref: ICD9CM:759.81 xref: MESH:D011218 xref: MIM:176270 xref: NCI:C75463 xref: ORDO:739 xref: SNOMEDCT_US_2023_03_01:205794007 xref: UMLS_CUI:C0032897 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome [Term] id: DOID:11984 name: hypertrophic cardiomyopathy alt_id: DOID:11986 def: "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause." [url:http\://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy, url:http\://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/cm/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "hypertrophic obstructive cardiomyopathy" EXACT [] xref: ICD9CM:425.1 xref: KEGG:05410 xref: MESH:D002312 xref: NCI:C34449 xref: ORDO:217569 xref: SNOMEDCT_US_2023_03_01:389998005 xref: UMLS_CUI:C0007194 is_a: DOID:0060036 ! intrinsic cardiomyopathy [Term] id: DOID:11987 name: obsolete anorectal gonorrhea subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "gonococcal infectious disease of anus and rectum" EXACT [] synonym: "gonococcal proctitis" EXACT [] is_obsolete: true [Term] id: DOID:11988 name: conjunctival concretion xref: ICD10CM:H11.12 xref: ICD9CM:372.54 xref: SNOMEDCT_US_2023_03_01:13706005 xref: UMLS_CUI:C0155162 is_a: DOID:11653 ! conjunctival deposit [Term] id: DOID:11990 name: ulceroglandular tularemia def: "A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion." [url:http\://www.cdc.gov/tularemia/signssymptoms/] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease xref: ICD10CM:A21.0 xref: ICD9CM:021.0 xref: SNOMEDCT_US_2023_03_01:37722001 xref: UMLS_CUI:C0152941 is_a: DOID:2123 ! tularemia [Term] id: DOID:11991 name: osteopoikilosis def: "An osteosclerosis that results_in numerous bone islands located_in skeleton." [url:http\://en.wikipedia.org/wiki/Osteopoikilosis] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:4158 xref: ICD10CM:Q78.8 xref: ICD9CM:756.53 xref: MESH:D010023 xref: NCI:C84985 xref: SNOMEDCT_US_2023_03_01:9147009 xref: UMLS_CUI:C0029455 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:11994 name: atrophy of testis subset: NCIthesaurus xref: ICD10CM:N50.0 xref: ICD9CM:608.3 xref: NCI:C123259 xref: SNOMEDCT_US_2023_03_01:155938008 xref: UMLS_CUI:C0156312 is_a: DOID:2519 ! testicular disease [Term] id: DOID:11996 name: spermatic cord torsion subset: NCIthesaurus synonym: "testicular Torsion" EXACT [] synonym: "Torsion of testicle" EXACT [] synonym: "Torsion of testis" EXACT [] xref: ICD10CM:N44.02 xref: ICD9CM:608.2 xref: MESH:D013086 xref: MIM:187400 xref: NCI:C26885 xref: SNOMEDCT_US_2023_03_01:198046000 xref: UMLS_CUI:C0037856 is_a: DOID:2519 ! testicular disease [Term] id: DOID:11997 name: spermatocele subset: NCIthesaurus xref: ICD10CM:N43.4 xref: ICD9CM:608.1 xref: MESH:D013088 xref: NCI:C120909 xref: SNOMEDCT_US_2023_03_01:155936007 xref: UMLS_CUI:C0037859 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:120 name: female reproductive organ cancer alt_id: DOID:1244 alt_id: DOID:1281 def: "A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva." [url:http\://en.wikipedia.org/wiki/Template\:Female_genital_neoplasia, url:http\://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm] subset: DO_cancer_slim subset: NCIthesaurus synonym: "female reproductive cancer" EXACT [] synonym: "malignant Gynecologic tumor" EXACT [] synonym: "malignant neoplasm of female genital organ" EXACT [] xref: ICD10CM:C57 xref: ICD9CM:184 xref: MESH:D005833 xref: NCI:C3053 xref: NCI:C4913 xref: SNOMEDCT_US_2023_03_01:126907002 xref: SNOMEDCT_US_2023_03_01:188207007 xref: UMLS_CUI:C0017416 xref: UMLS_CUI:C0153585 xref: UMLS_CUI:C0699889 is_a: DOID:193 ! reproductive organ cancer is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:12000 name: obsolete secondary malignant neoplasm of trachea synonym: "metastatic tumor to the Trachea" EXACT [] synonym: "secondary malignant neoplasm of trachea (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12001 name: tracheal lymphoma subset: NCIthesaurus synonym: "lymphoma of the trachea" EXACT [] synonym: "Lymphoma of Trachea" EXACT [] xref: NCI:C6248 xref: UMLS_CUI:C1336773 is_a: DOID:0060058 ! lymphoma is_a: DOID:11920 ! tracheal cancer [Term] id: DOID:12002 name: trachea sarcoma def: "A sarcoma and malignant tumor of trachea that is located_in the trachea." [url:http\://en.wikipedia.org/wiki/Lung_cancer] subset: NCIthesaurus synonym: "sarcoma of the trachea" EXACT [] xref: NCI:C6050 xref: UMLS_CUI:C1336774 is_a: DOID:1115 ! sarcoma is_a: DOID:11920 ! tracheal cancer [Term] id: DOID:12003 name: trachea squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the trachea." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26066883] subset: NCIthesaurus synonym: "Tracheal Epidermoid carcinoma" EXACT [] xref: NCI:C4448 xref: SNOMEDCT_US_2023_03_01:254620000 xref: UMLS_CUI:C0345946 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4876 ! trachea carcinoma [Term] id: DOID:1201 name: trigeminal nerve neoplasm subset: NCIthesaurus synonym: "neoplasm of trigeminal nerve" EXACT [] synonym: "tumor of Trigeminal nerve" EXACT [] xref: NCI:C5122 xref: SNOMEDCT_US_2023_03_01:126971002 xref: UMLS_CUI:C1263897 is_a: DOID:2815 ! cranial nerve malignant neoplasm [Term] id: DOID:12010 name: anterior ischemic optic neuropathy subset: DO_rare_slim synonym: "Ischemic optic neuropathy" EXACT [] xref: GARD:9790 xref: ICD10CM:H47.01 xref: ICD9CM:377.41 xref: MESH:D018917 xref: SNOMEDCT_US_2023_03_01:14357004 xref: UMLS_CUI:C0155305 is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:12016 name: frontal lobe neoplasm alt_id: DOID:12015 subset: NCIthesaurus synonym: "malignant neoplasm of frontal lobe" EXACT [] synonym: "neoplasm of frontal lobe" EXACT [] synonym: "tumor of Frontal Lobe" EXACT [] xref: ICD10CM:C71.1 xref: ICD9CM:191.1 xref: NCI:C5572 xref: SNOMEDCT_US_2023_03_01:126954003 xref: SNOMEDCT_US_2023_03_01:93807001 xref: UMLS_CUI:C0153635 xref: UMLS_CUI:C1263886 is_a: DOID:368 ! cerebrum cancer [Term] id: DOID:12017 name: obsolete group B streptococcal pneumonia def: "A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly." [url:http\://en.wikipedia.org/wiki/Streptococcus#Group_B, url:https\://www.ncbi.nlm.nih.gov/pubmed/11462195] subset: gram-positive_bacterial_infectious_disease synonym: "Group B" EXACT [] synonym: "Group B streptococcal pneumonia (disorder)" EXACT [] synonym: "Pneumonia due to Streptococcus Group B" EXACT [] is_obsolete: true [Term] id: DOID:12019 name: obsolete group A streptococcal pneumonia def: "A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst." [url:http\://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA419&lpg#v=onepage&q=&f=false] subset: gram-positive_bacterial_infectious_disease synonym: "pneumonia due to streptococcus group A" EXACT [] is_obsolete: true [Term] id: DOID:12020 name: obsolete malignant neoplasm of corpus uteri, except isthmus synonym: "malignant neoplasm of corpus uteri, excluding isthmus (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12021 name: obsolete leukemic reticuloendotheliosis of intrathoracic lymph nodes synonym: "Leukemic reticuloendotheliosis involving intrathoracic lymph nodes" EXACT [] synonym: "Leukemic reticuloendotheliosis of intrathoracic lymph nodes (disorder)" EXACT [] synonym: "Leukemic reticuloendotheliosis of intrathoracic lymph nodes [dup] (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12022 name: obsolete spontaneous abortion complicated by genital tract and pelvic infectious disease synonym: "spontaneous abortion, unspecified, complicated by genital tract and pelvic infection" EXACT [] is_obsolete: true [Term] id: DOID:12028 name: Conn's syndrome def: "An adrenal adenoma characterized by the over production of aldosterone." [url:http\://en.wikipedia.org/wiki/Conn%27s_syndrome] subset: DO_rare_slim subset: NCIthesaurus synonym: "Conn syndrome" EXACT [] synonym: "primary aldosteronism" EXACT [] xref: GARD:7456 xref: ICD10CM:E26.01 xref: ICD9CM:255.12 xref: MESH:D006929 xref: NCI:C34510 xref: SNOMEDCT_US_2023_03_01:13536004 xref: UMLS_CUI:C1384514 is_a: DOID:656 ! adrenal adenoma [Term] id: DOID:12029 name: sympathetic ophthalmia def: "A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia." [url:http\://eyewiki.aao.org/Sympathetic_Ophthalmia, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3277011/] synonym: "Sympathetic uveitis" EXACT [] xref: ICD10CM:H44.13 xref: ICD9CM:360.11 xref: MESH:D009879 xref: SNOMEDCT_US_2023_03_01:75315001 xref: UMLS_CUI:C0029077 is_a: DOID:12030 ! panuveitis [Term] id: DOID:1203 name: drug-induced mental disorder xref: ICD9CM:292.8 xref: UMLS_CUI:C0154325 is_a: DOID:8646 ! substance-induced psychosis [Term] id: DOID:12030 name: panuveitis def: "An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid." [url:https\://rarediseases.info.nih.gov/diseases/8577/panuveitis] subset: DO_rare_slim subset: NCIthesaurus synonym: "Diffuse uveitis" EXACT [] xref: GARD:8577 xref: ICD10CM:H44.11 xref: ICD9CM:360.12 xref: MESH:D015864 xref: NCI:C84989 xref: SNOMEDCT_US_2023_03_01:75614007 xref: UMLS_CUI:C0030343 is_a: DOID:13141 ! uveitis [Term] id: DOID:1204 name: obsolete arthropathy due to hypersensitivity reaction synonym: "Arthropathy associated with a hypersensitivity reaction (disorder)" EXACT [] synonym: "Arthropathy associated with hypersensitivity reaction" EXACT [] is_obsolete: true [Term] id: DOID:12040 name: obsolete immune hydrops fetalis synonym: "Hydrops fetalis - due to isoim" EXACT [] synonym: "Hydrops fetalis due to isoimmunization" EXACT [] synonym: "Hydrops fetalis due to isoimmunization (disorder)" EXACT [] synonym: "Hydrops fetalis due to isoimmunization [dup] (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12043 name: kernicterus due to isoimmunization subset: NCIthesaurus xref: ICD10CM:P57.0 xref: ICD9CM:773.4 xref: NCI:C101270 xref: SNOMEDCT_US_2023_03_01:206433007 xref: UMLS_CUI:C0270204 is_a: DOID:2383 ! neonatal jaundice [Term] id: DOID:1205 name: allergic disease def: "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." [url:http\://en.wikipedia.org/wiki/Allergy] {comment="ls:IEDB"} subset: NCIthesaurus synonym: "allergic hypersensitivity disease" EXACT [] synonym: "hypersensitivity" EXACT [] synonym: "hypersensitivity reaction type I disease" EXACT [] xref: ICD10CM:T78.40 xref: MESH:D006967 xref: NCI:C3114 xref: SNOMEDCT_US_2023_03_01:257550005 xref: UMLS_CUI:C0020517 is_a: DOID:2914 ! immune system disease property_value: OBI:9991118 "allergic disease" xsd:string [Term] id: DOID:12052 name: obsolete cryptococcal meningitis def: "A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion." [url:http\://en.wikipedia.org/wiki/Cryptococcosis, url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4] synonym: "Cryptococcal meningitis" EXACT [] synonym: "Cryptococcal meningitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12053 name: cryptococcosis def: "An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii." [url:http\://en.wikipedia.org/wiki/Cryptococcosis] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Busse-Buschke's disease" EXACT [] synonym: "cryptococcal infection" EXACT [] synonym: "cryptococcus neoformans infection" RELATED [] synonym: "European cryptococcosis" EXACT [] synonym: "torula" EXACT [] synonym: "torulosis" EXACT [] xref: GARD:6218 xref: ICD10CM:B45 xref: ICD9CM:117.5 xref: MESH:D003453 xref: NCI:C2967 xref: SNOMEDCT_US_2023_03_01:42386007 xref: UMLS_CUI:C0010414 is_a: DOID:2473 ! opportunistic mycosis property_value: exactMatch "MESH:D003453" xsd:string [Term] id: DOID:12054 name: obsolete Trypanosoma meningitis def: "A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species." [url:http\://www.tropicalmedandhygienejrnl.net/article/0035-9203%2895%2990637-1/abstract] subset: zoonotic_infectious_disease synonym: "Meningitis due to trypanosomiasis" EXACT [] synonym: "trypanosomiasis with meningitis" EXACT [] synonym: "Trypanosomiasis with meningitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12055 name: sarcoid meningitis synonym: "Meningitis in sarcoidosis" EXACT [] xref: ICD10CM:D86.81 xref: ICD9CM:321.4 xref: SNOMEDCT_US_2023_03_01:192673008 xref: UMLS_CUI:C0154648 is_a: DOID:13403 ! neurosarcoidosis [Term] id: DOID:12056 name: obsolete meningitis with clear cerebrospinal fluid synonym: "Non-pyogenic meningitis (disorder)" EXACT [] synonym: "Nonpyogenic meningitis" EXACT [] synonym: "Nonpyogenic meningitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12058 name: obsolete Fetal-maternal hemorrhage affecting management of mother alt_id: DOID:12059 synonym: "Fetal-maternal hemorrhage, with delivery" EXACT [] is_obsolete: true [Term] id: DOID:1206 name: Rett syndrome def: "A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability." [url:http\://www.nichd.nih.gov/health/topics/rett_syndrome.cfm, url:http\://www.ninds.nih.gov/disorders/rett/detail_rett.htm, url:https\://medlineplus.gov/ency/article/001536.htm] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "cerebroatrophic hyperammonemia" EXACT [] synonym: "Rett's disorder" EXACT [] xref: GARD:5696 xref: ICD10CM:F84.2 xref: MESH:D015518 xref: MIM:312750 xref: MIM:613454 xref: NCI:C75488 xref: SNOMEDCT_US_2023_03_01:192583003 xref: UMLS_CUI:C0035372 is_a: DOID:0060040 ! pervasive developmental disorder [Term] id: DOID:12061 name: obsolete fetal blood loss synonym: "Fetal blood loss (disorder)" EXACT [] synonym: "Fetal blood loss NOS (disorder)" EXACT [] synonym: "Fetal blood loss, unspecified (disorder)" EXACT [] synonym: "Fetal haemorrhage" EXACT [] is_obsolete: true [Term] id: DOID:12064 name: mediastinum neurofibroma subset: NCIthesaurus synonym: "Neurofibroma of mediastinum" EXACT [] xref: NCI:C6631 xref: UMLS_CUI:C1334674 is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm is_a: DOID:962 ! neurofibroma [Term] id: DOID:12065 name: obsolete ganglioneuroma of the mediastinum synonym: "Ganglioneuroma of mediastinum" EXACT [] is_obsolete: true [Term] id: DOID:12070 name: Dieulafoy lesion alt_id: DOID:11791 subset: DO_rare_slim synonym: "Dieulafoy lesion (hemorrhagic) of intestine" EXACT [] synonym: "dieulafoy lesion (hemorrhagic) of stomach and duodenum" EXACT [] xref: GARD:10930 xref: ICD10CM:K31.82 xref: ICD9CM:537.84 xref: UMLS_CUI:C1135229 is_a: DOID:76 ! stomach disease [Term] id: DOID:12072 name: pylorospasm xref: ICD9CM:537.81 xref: SNOMEDCT_US_2023_03_01:335002 xref: UMLS_CUI:C0152163 is_a: DOID:76 ! stomach disease [Term] id: DOID:12076 name: obsolete interstitial emphysema and related conditions of newborn is_obsolete: true [Term] id: DOID:12084 name: transient arthropathy alt_id: DOID:10502 alt_id: DOID:11494 alt_id: DOID:12080 alt_id: DOID:12081 alt_id: DOID:12083 alt_id: DOID:2091 alt_id: DOID:9424 synonym: "Transient arthropathy involving forearm" EXACT [] synonym: "Transient arthropathy involving hand" EXACT [] synonym: "Transient arthropathy involving lower leg" EXACT [] synonym: "Transient arthropathy involving multiple sites" EXACT [] synonym: "Transient arthropathy involving pelvic region and thigh" EXACT [] synonym: "Transient arthropathy involving shoulder region" EXACT [] synonym: "Transient arthropathy involving upper arm" EXACT [] xref: ICD9CM:716.41 xref: SNOMEDCT_US_2023_03_01:201988000 xref: UMLS_CUI:C0158007 is_a: DOID:2092 ! transient arthritis [Term] id: DOID:12087 name: deep corneal vascularisation synonym: "Deep vascularization of cornea" EXACT [] xref: ICD10CM:H16.44 xref: ICD9CM:370.63 xref: SNOMEDCT_US_2023_03_01:2102007 xref: UMLS_CUI:C0155095 is_a: DOID:11382 ! corneal neovascularization [Term] id: DOID:1209 name: nutritional optic neuropathy def: "An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25345287] xref: ICD10CM:H46.2 xref: ICD9CM:377.33 xref: SNOMEDCT_US_2023_03_01:82108004 xref: UMLS_CUI:C0155302 is_a: DOID:1210 ! optic neuritis [Term] id: DOID:12091 name: obsolete vitamin A deficiency with corneal xerosis synonym: "vitamin A deficiency with corneal xerosis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12092 name: obsolete Galactorrhea associated with childbirth is_obsolete: true [Term] id: DOID:12096 name: sodoku disease def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain." [url:http\://en.wikipedia.org/wiki/Rat_bite_fever, url:http\://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Spirillary fever" EXACT [] synonym: "Spirillosis" RELATED [] xref: ICD10CM:A25.0 xref: ICD9CM:026.0 xref: MESH:D011906 xref: SNOMEDCT_US_2023_03_01:19044004 xref: UMLS_CUI:C0152062 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:12097 name: obsolete rat-bite fever subset: zoonotic_infectious_disease synonym: "Rat bite fever (disorder)" EXACT [] synonym: "Rat-bite fever" EXACT [] synonym: "Rat-bite fever NOS (disorder)" EXACT [] synonym: "Rat-bite fever, unspecified (disorder)" EXACT [] synonym: "Unspecified rat-bite fever" EXACT [] is_obsolete: true [Term] id: DOID:12098 name: trigeminal neuralgia comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim synonym: "Trifacial neuralgia" EXACT [] synonym: "trifocal neuralgia" EXACT [] xref: GARD:7805 xref: ICD10CM:G50.0 xref: ICD9CM:350.1 xref: MESH:D014277 xref: MIM:190400 xref: SNOMEDCT_US_2023_03_01:155066002 xref: UMLS_CUI:C0040997 is_a: DOID:561 ! trigeminal nerve disease [Term] id: DOID:121 name: vaginal disease def: "A female reproductive system disease that is located_in the vagina." [url:https\://en.wikipedia.org/wiki/Vaginal_disease] subset: NCIthesaurus xref: MESH:D014623 xref: NCI:C26910 xref: SNOMEDCT_US_2023_03_01:25658005 xref: UMLS_CUI:C0042251 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:1210 name: optic neuritis def: "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision." [url:https\://www.mayoclinic.org/diseases-conditions/optic-neuritis/symptoms-causes/syc-20354953] {comment="sn:IEDB"} subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7320 xref: ICD10CM:H46 xref: ICD9CM:377.3 xref: MESH:D009902 xref: NCI:C84950 xref: SNOMEDCT_US_2023_03_01:194051001 xref: UMLS_CUI:C0029134 is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:12104 name: obsolete vitamin A deficiency with corneal xerosis and ulcer synonym: "vitamin A deficiency with corneal ulceration and xerosis" EXACT [] synonym: "vitamin A deficiency with corneal ulceration AND xerosis (disorder)" EXACT [] synonym: "vitamin A deficiency with corneal xerosis and ulcer (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12105 name: inflammatory spondylopathy synonym: "Inflammatory spondylopathies in disease classified elsewhere" EXACT [] synonym: "Inflammatory spondylopathies in disease EC" EXACT [] synonym: "Inflammatory spondylopathy in disease classified elsewhere" EXACT [] xref: ICD9CM:720.81 xref: SNOMEDCT_US_2023_03_01:6963001 xref: UMLS_CUI:C0021396 is_a: DOID:6590 ! spondylitis [Term] id: DOID:12106 name: obsolete tricuspid valve syphilitic endocarditis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilitic endocarditis of tricuspid valve (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12107 name: obsolete primary retinal cyst synonym: "primary retinal cyst (disorder)" EXACT [] synonym: "primary retinal cysts" EXACT [] is_obsolete: true [Term] id: DOID:12108 name: bullous retinoschisis xref: ICD9CM:361.12 xref: SNOMEDCT_US_2023_03_01:65545003 xref: UMLS_CUI:C0344289 is_a: DOID:8465 ! retinoschisis [Term] id: DOID:12111 name: obsolete vitamin A deficiency with xerophthalmic corneal scar synonym: "vitamin A deficiency with xerophthalmic corneal scars (disorder)" EXACT [] synonym: "vitamin A deficiency with xerophthalmic scars of cornea" EXACT [] synonym: "vitamin A deficiency with xerophthalmic scars of cornea (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12113 name: obsolete nerve deafness synonym: "nerve conduction deafness" EXACT [] synonym: "neural hearing loss" EXACT [] synonym: "neural hearing loss (finding)" EXACT [] is_obsolete: true [Term] id: DOID:12115 name: obsolete streptococcal pharyngitis def: "A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000639.htm] subset: gram-positive_bacterial_infectious_disease synonym: "Septic sore throat due to streptococcal infection" EXACT [] synonym: "Strept throat" EXACT [] synonym: "Streptococcal angina" EXACT [] synonym: "Streptococcal sore throat" EXACT [] synonym: "Streptococcal sore throat NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12117 name: pulmonary alveolar microlithiasis def: "A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs." [url:https\://pubmed.ncbi.nlm.nih.gov/27514591/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:11894 xref: ICD10CM:J84.02 xref: ICD9CM:516.2 xref: MESH:C562405 xref: MIM:265100 xref: SNOMEDCT_US_2023_03_01:196160008 xref: UMLS_CUI:C0155912 is_a: DOID:850 ! lung disease [Term] id: DOID:12118 name: pulmonary hemosiderosis alt_id: DOID:0050330 def: "A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h." [url:http\://en.wikipedia.org/wiki/Brown_induration, url:http\://en.wikipedia.org/wiki/Idiopathic_pulmonary_haemosiderosis, url:https\://erj.ersjournals.com/content/24/1/162.full] subset: DO_rare_slim synonym: "brown induration" EXACT [] synonym: "brown lung" EXACT [] synonym: "Idiopathic pulmonary hemosiderosis" EXACT [] xref: ICD10CM:J84.03 xref: ICD9CM:516.1 xref: MESH:C536281 xref: MIM:178550 xref: MIM:235500 xref: ORDO:99931 xref: SNOMEDCT_US_2023_03_01:190848001 xref: UMLS_CUI:C0020807 is_a: DOID:12119 ! hemosiderosis is_a: DOID:850 ! lung disease [Term] id: DOID:12119 name: hemosiderosis def: "An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload." [url:http\://en.wikipedia.org/wiki/Hemosiderosis] subset: DO_rare_slim synonym: "haemosiderosis" EXACT [] xref: GARD:6595 xref: MESH:D006486 xref: SNOMEDCT_US_2023_03_01:39011001 xref: UMLS_CUI:C0019114 is_a: DOID:2351 ! iron metabolism disease [Term] id: DOID:12120 name: pulmonary alveolar proteinosis def: "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange." [url:http\://en.wikipedia.org/wiki/Pulmonary_alveolar_proteinosis] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus xref: ICD10CM:J84.01 xref: ICD9CM:516.0 xref: MESH:D011649 xref: MIM:265120 xref: MIM:300770 xref: MIM:610913 xref: MIM:610921 xref: MIM:614370 xref: NCI:C85037 xref: ORDO:264675 xref: SNOMEDCT_US_2023_03_01:10501004 xref: UMLS_CUI:C0034050 is_a: DOID:850 ! lung disease [Term] id: DOID:12121 name: obsolete secondary syphilitic periostitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "secondary syphilitic periostitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12123 name: postinflammatory pulmonary fibrosis synonym: "Post-inflammatory pulmonary fibrosis" EXACT [] xref: ICD10CM:J84.10 xref: ICD9CM:515 xref: SNOMEDCT_US_2023_03_01:266368002 xref: UMLS_CUI:C0175999 is_a: DOID:3770 ! pulmonary fibrosis [Term] id: DOID:12124 name: episcleritis periodica fugax def: "A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate." [url:https\://eyewiki.aao.org/Episcleritis] xref: ICD10CM:H15.11 xref: ICD9CM:379.01 xref: SNOMEDCT_US_2023_03_01:194141004 xref: UMLS_CUI:C0155351 is_a: DOID:11343 ! scleral disease [Term] id: DOID:12125 name: neurotrophic keratoconjunctivitis xref: ICD10CM:H16.23 xref: ICD9CM:370.35 xref: SNOMEDCT_US_2023_03_01:193777005 xref: UMLS_CUI:C0155084 is_a: DOID:9368 ! keratoconjunctivitis [Term] id: DOID:12128 name: pica disease def: "An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients." [url:http\://en.wikipedia.org/wiki/Pica_%28disorder%29] subset: NCIthesaurus xref: ICD9CM:307.52 xref: MESH:D010842 xref: NCI:C92566 xref: SNOMEDCT_US_2023_03_01:14077003 xref: UMLS_CUI:C0031873 is_a: DOID:8670 ! eating disorder [Term] id: DOID:12129 name: bulimia nervosa def: "An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem." [url:http\://en.wikipedia.org/wiki/Bulimia_nervosa] comment: Xref MGI. synonym: "hyperorexia nervosa" EXACT [] xref: ICD10CM:F50.2 xref: MESH:D002032 xref: SNOMEDCT_US_2023_03_01:78004001 xref: UMLS_CUI:C0006370 is_a: DOID:8670 ! eating disorder [Term] id: DOID:1213 name: obsolete Tympanosclerosis of tympanic membrane and ossicles synonym: "Tympanosclerosis involving tympanic membrane and ear ossicles" EXACT [] synonym: "Tympanosclerosis involving tympanic membrane AND ear ossicles (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12132 name: granulomatosis with polyangiitis def: "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels." [url:https\://en.wikipedia.org/wiki/Granulomatosis_with_polyangiitis] subset: DO_rare_slim subset: NCIthesaurus synonym: "Necrotizing respiratory granulomatosis" EXACT [] synonym: "Wegener granulomatosis, formerly" EXACT [] xref: GARD:7880 xref: ICD10CM:M31.3 xref: ICD9CM:446.4 xref: MESH:D014890 xref: MIM:608710 xref: NCI:C3444 xref: SNOMEDCT_US_2023_03_01:195353004 xref: UMLS_CUI:C3495801 is_a: DOID:0060050 ! autoimmune disease of blood is_a: DOID:37 ! skin disease is_a: DOID:557 ! kidney disease is_a: DOID:850 ! lung disease [Term] id: DOID:12133 name: obsolete Yersinia enterocolitica intestinal infectious disease def: "A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children)." [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/yersinia_g.htm] subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Infection by Yersinia enterocolitica (disorder)" EXACT [] synonym: "infectious disease by Yersinia enterocolitica" EXACT [] synonym: "intestinal infection due to yersinia enterocolitica" EXACT [] synonym: "Yersinia enterocolitis" EXACT [] is_obsolete: true [Term] id: DOID:12134 name: factor VIII deficiency def: "A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged." [url:http\://en.wikipedia.org/wiki/Hemophilia_A] {comment="sn:IEDB"} comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "classic hemophilia A" EXACT [] synonym: "Congenital factor VIII disorder" EXACT [] synonym: "Hemophilia A" EXACT [] synonym: "Subhemophilia" EXACT [] xref: GARD:6591 xref: ICD10CM:D66 xref: ICD9CM:286.0 xref: MESH:D006467 xref: MIM:306700 xref: NCI:C27146 xref: ORDO:98878 xref: SNOMEDCT_US_2023_03_01:28293008 xref: UMLS_CUI:C0019069 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1247 ! blood coagulation disease property_value: exactMatch "MESH:D006467" xsd:string [Term] id: DOID:12135 name: obsolete acquired factor VIII deficiency synonym: "acquired factor VIII deficiency disease (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12136 name: obsolete acquired coagulation factor deficiency synonym: "acquired coagulation factor deficiency" EXACT [] synonym: "acquired coagulation factor deficiency (disorder)" EXACT [] synonym: "acquired coagulation factor deficiency NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12139 name: dysthymic disorder def: "A mood disorder that involves the presence of a low mood almost daily over a span of at least two years." [url:http\://en.wikipedia.org/wiki/Mood_disorder] subset: NCIthesaurus synonym: "dysthymia" EXACT [] xref: ICD10CM:F34.1 xref: ICD9CM:300.4 xref: MESH:D019263 xref: NCI:C34562 xref: SNOMEDCT_US_2023_03_01:192384008 xref: UMLS_CUI:C0013415 is_a: DOID:3324 ! mood disorder [Term] id: DOID:1214 name: tympanosclerosis xref: ICD9CM:385.09 xref: SNOMEDCT_US_2023_03_01:111540000 xref: UMLS_CUI:C0155477 is_a: DOID:5782 ! tympanic membrane disease [Term] id: DOID:12140 name: Chagas disease alt_id: DOID:0050016 alt_id: DOID:0050019 alt_id: DOID:0050020 def: "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis." [url:http\://en.wikipedia.org/wiki/Chagas_disease] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: zoonotic_infectious_disease synonym: "American trypanosomiasis" RELATED [] synonym: "Chagas' disease" EXACT [] synonym: "chagas' disease with digestive system involvement" EXACT [] synonym: "chagas' disease with nervous system involvement" EXACT [] synonym: "chagas' disease with other organ involvement" EXACT [] xref: GARD:6030 xref: ICD9CM:086.2 xref: KEGG:05142 xref: MESH:D014355 xref: ORDO:3386 xref: SNOMEDCT_US_2023_03_01:77506005 xref: UMLS_CUI:C0041234 is_a: DOID:10113 ! trypanosomiasis [Term] id: DOID:12141 name: obsolete adenovirus meningitis def: "An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion." [url:http\://emedicine.medscape.com/article/1168529-overview, url:http\://virology-online.com/viruses/Adenoviruses3.htm, url:http\://www.cdc.gov/meningitis/about/faq.html] synonym: "non-arthropod-borne meningitis due to adenovirus" RELATED [] is_obsolete: true [Term] id: DOID:12143 name: neurogenic bladder subset: NCIthesaurus synonym: "neurogenic dysfunction of the urinary bladder" EXACT [] synonym: "neurogenic urinary bladder disorder" EXACT [] synonym: "Neuropathic bladder" EXACT [] xref: ICD9CM:596.54 xref: MESH:D001750 xref: NCI:C79696 xref: SNOMEDCT_US_2023_03_01:192972000 xref: UMLS_CUI:C0005697 is_a: DOID:365 ! bladder disease [Term] id: DOID:12144 name: low compliance bladder synonym: "hyperactivity of bladder" EXACT [] synonym: "hypertonic bladder" EXACT [] synonym: "hypertonicity of bladder" EXACT [] synonym: "Low bladder compliance" EXACT [] xref: ICD9CM:596.52 xref: SNOMEDCT_US_2023_03_01:9009001 xref: UMLS_CUI:C0489967 is_a: DOID:365 ! bladder disease [Term] id: DOID:12145 name: detrusor sphincter dyssynergia xref: ICD9CM:596.55 xref: SNOMEDCT_US_2023_03_01:236655005 xref: UMLS_CUI:C0341747 is_a: DOID:365 ! bladder disease [Term] id: DOID:12148 name: alveolar echinococcosis alt_id: DOID:12147 alt_id: DOID:2774 def: "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain." [url:http\://en.wikipedia.org/wiki/Echinococcosis] subset: DO_infectious_disease_slim subset: DO_rare_slim synonym: "alveolococcosis" EXACT [] synonym: "echinococcus multilocularis infection" RELATED [] synonym: "Multilocular hydatid" EXACT [] synonym: "small fox tapeworm" EXACT [] xref: GARD:207 xref: ICD10CM:B67.7 xref: ICD9CM:122.7 xref: MESH:C536591 xref: SNOMEDCT_US_2023_03_01:21009004 xref: UMLS_CUI:C0152069 is_a: DOID:1496 ! echinococcosis is_a: DOID:409 ! liver disease is_a: DOID:850 ! lung disease is_a: DOID:936 ! brain disease [Term] id: DOID:1215 name: obsolete Tympanosclerosis of tympanic membrane only synonym: "Tympanosclerosis involving tympanic membrane only" EXACT [] synonym: "Tympanosclerosis involving tympanic membrane only (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12150 name: obsolete calculus of gallbladder with acute cholecystitis, with obstruction synonym: "Cholelithiasis AND acute cholecystitis with obstruction (disorder)" EXACT [] synonym: "gallbladder calculus with acute cholecystitis and obstruction (disorder)" EXACT [] synonym: "gallbladder calculus with acute cholecystitis and obstruction NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12151 name: obsolete currently pregnant habitual aborter is_obsolete: true [Term] id: DOID:12155 name: lymphocytic choriomeningitis alt_id: DOID:10662 def: "A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in Mammarenavirus choriomeningitidis, which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting." [url:http\://en.wikipedia.org/wiki/Lymphocytic_choriomeningitis] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "LCM" EXACT OMO:0003012 [] synonym: "Lymphocytic choriomeningitis virus encephalomyelitis" EXACT [] synonym: "Lymphocytic meningitis" EXACT [] synonym: "Lymphocytic meningoencephalitis" EXACT [] xref: ICD10CM:A87.2 xref: MESH:D008216 xref: NCI:C174114 xref: SNOMEDCT_US_2023_03_01:192668002 xref: UMLS_CUI:C0024266 is_a: DOID:934 ! viral infectious disease is_a: DOID:936 ! brain disease [Term] id: DOID:12156 name: arachnoiditis subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5839 xref: ICD10CM:G03 xref: MESH:D001100 xref: NCI:C37913 xref: SNOMEDCT_US_2023_03_01:154986008 xref: UMLS_CUI:C0003708 is_a: DOID:9471 ! meningitis [Term] id: DOID:12157 name: aseptic meningitis def: "A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728900/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23622323] subset: NCIthesaurus synonym: "acute aseptic meningitis" EXACT [] xref: ICD10CM:G03.0 xref: MESH:D008582 xref: NCI:C118299 xref: SNOMEDCT_US_2023_03_01:186490006 xref: UMLS_CUI:C0025290 is_a: DOID:9471 ! meningitis [Term] id: DOID:12161 name: peripheral retinal degeneration subset: NCIthesaurus synonym: "peripheral degeneration of retina" EXACT [] xref: ICD10CM:H35.4 xref: ICD9CM:362.6 xref: NCI:C34919 xref: SNOMEDCT_US_2023_03_01:193393004 xref: UMLS_CUI:C1320640 is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:12162 name: pseudoretinitis pigmentosa synonym: "secondary pigmentary degeneration of retina" EXACT [] synonym: "secondary pigmentary retinal degeneration" EXACT [] xref: ICD10CM:H35.45 xref: ICD9CM:362.65 xref: SNOMEDCT_US_2023_03_01:35545005 xref: UMLS_CUI:C0154858 is_a: DOID:12161 ! peripheral retinal degeneration [Term] id: DOID:12163 name: senile reticular retinal degeneration synonym: "Senile reticular degeneration of retina" EXACT [] xref: ICD9CM:362.64 xref: SNOMEDCT_US_2023_03_01:54184008 xref: UMLS_CUI:C0154857 is_a: DOID:12161 ! peripheral retinal degeneration [Term] id: DOID:12164 name: Blessig's cysts synonym: "Blessig cysts" EXACT [] synonym: "Iwanoff's cysts" EXACT [] synonym: "Microcystoid degeneration of retina" EXACT [] synonym: "Microcystoid retinal degeneration" EXACT [] xref: ICD10CM:H35.42 xref: ICD9CM:362.62 xref: SNOMEDCT_US_2023_03_01:37075008 xref: UMLS_CUI:C0154855 is_a: DOID:12161 ! peripheral retinal degeneration [Term] id: DOID:12165 name: retinal lattice degeneration synonym: "Palisade degeneration of retina" EXACT [] xref: ICD10CM:H35.41 xref: ICD9CM:362.63 xref: SNOMEDCT_US_2023_03_01:3577000 xref: UMLS_CUI:C0154856 is_a: DOID:12161 ! peripheral retinal degeneration [Term] id: DOID:12166 name: cobblestone retinal degeneration synonym: "Paving stone degeneration of retina" EXACT [] synonym: "Paving stone retinal degeneration" EXACT [] xref: ICD10CM:H35.43 xref: ICD9CM:362.61 xref: SNOMEDCT_US_2023_03_01:69134001 xref: UMLS_CUI:C0154854 is_a: DOID:12161 ! peripheral retinal degeneration [Term] id: DOID:12167 name: secondary vitreoretinal degeneration xref: ICD10CM:H35.46 xref: ICD9CM:362.66 xref: SNOMEDCT_US_2023_03_01:193397003 xref: UMLS_CUI:C0154859 is_a: DOID:12161 ! peripheral retinal degeneration [Term] id: DOID:12168 name: ulnar nerve lesion synonym: "Lesion of ulnar nerve" EXACT [] xref: ICD10CM:G56.2 xref: ICD9CM:354.2 xref: SNOMEDCT_US_2023_03_01:55802003 xref: UMLS_CUI:C1288279 is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex [Term] id: DOID:12169 name: carpal tunnel syndrome def: "A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm." [url:https\://en.wikipedia.org/wiki/Carpal_tunnel_syndrome, url:https\://medlineplus.gov/ency/article/000433.htm, url:https\://orthoinfo.aaos.org/en/diseases--conditions/carpal-tunnel-syndrome/] subset: NCIthesaurus synonym: "carpal tunnel median neuropathy" EXACT [] synonym: "CTS - Carpal tunnel syndrome" EXACT [] synonym: "Median nerve entrapment" EXACT [] xref: ICD10CM:G56.0 xref: ICD9CM:354.0 xref: MESH:D002349 xref: MIM:PS115430 xref: NCI:C34450 xref: SNOMEDCT_US_2023_03_01:193126005 xref: UMLS_CUI:C0007286 is_a: DOID:573 ! nerve compression syndrome [Term] id: DOID:1217 name: fascioloidiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna." [url:http\://en.wikipedia.org/wiki/Fascioloides_magna] subset: DO_infectious_disease_slim xref: MESH:D005213 xref: SNOMEDCT_US_2023_03_01:69550000 xref: UMLS_CUI:C0015655 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:12170 name: radial nerve lesion synonym: "Lesion of radial nerve" EXACT [] synonym: "Radial nerve lesions" EXACT [] xref: ICD10CM:G56.3 xref: ICD9CM:354.3 xref: SNOMEDCT_US_2023_03_01:16644004 xref: UMLS_CUI:C0154744 is_a: DOID:12171 ! radial neuropathy [Term] id: DOID:12171 name: radial neuropathy xref: MESH:D020425 xref: SNOMEDCT_US_2023_03_01:16644004 xref: UMLS_CUI:C0748226 is_a: DOID:1188 ! mononeuropathy [Term] id: DOID:12175 name: dyshormonogenic goiter synonym: "dyshormonogenic goitre" EXACT [] xref: ICD10CM:E07.1 xref: ICD9CM:246.1 xref: SNOMEDCT_US_2023_03_01:190304001 xref: UMLS_CUI:C0152077 is_a: DOID:12176 ! goiter [Term] id: DOID:12176 name: goiter def: "A thyroid gland disease that involves an abnormal enlargement of the thyroid gland." [url:http\://www.thyroid.org/patients/patient_brochures/goiter.html] subset: NCIthesaurus synonym: "goitre" EXACT [] xref: ICD10CM:E04.9 xref: ICD9CM:240.9 xref: MESH:D006042 xref: NCI:C26785 xref: SNOMEDCT_US_2023_03_01:237568003 xref: UMLS_CUI:C0018021 is_a: DOID:50 ! thyroid gland disease property_value: exactMatch "MESH:D006042" xsd:string [Term] id: DOID:12177 name: common variable immunodeficiency def: "An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens." [url:http\://en.wikipedia.org/wiki/Common_variable_immunodeficiency, url:http\://www.merck.com/mmpe/sec13/ch164/ch164g.html] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "acquired agammaglobulinemia" EXACT [] synonym: "acquired hypogammaglobulinemia" EXACT [] synonym: "common variable agammaglobulinemia" EXACT [] synonym: "CVID" EXACT OMO:0003012 [] synonym: "sporadic hypogammaglobulinemia" EXACT [] xref: GARD:6140 xref: ICD10CM:D83 xref: ICD9CM:279.06 xref: MESH:D017074 xref: MIM:PS607594 xref: ORDO:1572 xref: SNOMEDCT_US_2023_03_01:191010004 xref: UMLS_CUI:C0009447 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia is_a: DOID:417 ! autoimmune disease [Term] id: DOID:12179 name: tinea corporis def: "A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000877.htm] subset: DO_infectious_disease_slim synonym: "dermatophytosis of the body" EXACT [] synonym: "Dermatophytosis of the trunk" EXACT [] xref: ICD9CM:110.5 xref: SNOMEDCT_US_2023_03_01:186994008 xref: UMLS_CUI:C0546826 is_a: DOID:37 ! skin disease is_a: DOID:8913 ! dermatophytosis [Term] id: DOID:1218 name: echinostomiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Echinostomiasis.htm] subset: DO_infectious_disease_slim synonym: "Infection by Echinochasmus" EXACT [] xref: ICD10CM:B66.8 xref: MESH:D004451 xref: SNOMEDCT_US_2023_03_01:36607007 xref: UMLS_CUI:C0013514 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:12180 name: obsolete Fetal Macrosomia synonym: "fetal macrosomia" EXACT [] is_obsolete: true [Term] id: DOID:12185 name: otosclerosis def: "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule." [url:http\://en.wikipedia.org/wiki/Otosclerosis, url:http\://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/middle_ear_and_tympanic_membrane_disorders/otosclerosis.html?qt=otosclerosis&alt=sh] comment: Xref MGI, ICD10 code updated to H80. subset: DO_rare_slim xref: EFO:0004213 xref: ICD10CM:H80.80 xref: ICD9CM:387.8 xref: MIM:PS166800 xref: ORDO:2794 xref: SNOMEDCT_US_2023_11_01:11543004 xref: UMLS_CUI:C0029696 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2952 ! inner ear disease property_value: exactMatch "MESH:D010040" xsd:string [Term] id: DOID:12189 name: obsolete metastatic tumor to the colon is_obsolete: true [Term] id: DOID:1219 name: dicrocoeliasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Dicrocoeliasis.htm] subset: DO_infectious_disease_slim synonym: "disease due to Dicrocoeliidae" EXACT [] xref: ICD10CM:B66.2 xref: MESH:D004011 xref: SNOMEDCT_US_2023_03_01:8410006 xref: UMLS_CUI:C0012102 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:12190 name: descending colon cancer synonym: "Ca descending colon" EXACT [] synonym: "malignant neoplasm of left colon" EXACT [] synonym: "malignant tumor of descending colon" EXACT [] xref: ICD10CM:C18.6 xref: ICD9CM:153.2 xref: SNOMEDCT_US_2023_03_01:93771007 xref: UMLS_CUI:C0153435 is_a: DOID:219 ! colon cancer [Term] id: DOID:12191 name: splenic flexure cancer synonym: "Ca splenic flexure - colon" EXACT [] synonym: "malignant neoplasm of splenic flexure" EXACT [] synonym: "malignant tumor of splenic flexure" EXACT [] xref: ICD10CM:C18.5 xref: ICD9CM:153.7 xref: SNOMEDCT_US_2023_03_01:94072004 xref: UMLS_CUI:C0153440 is_a: DOID:12190 ! descending colon cancer [Term] id: DOID:12192 name: sigmoid colon cancer synonym: "Ca sigmoid colon" EXACT [] synonym: "malignant tumor of sigmoid colon" EXACT [] xref: ICD10CM:C18.7 xref: ICD9CM:153.3 xref: MESH:D012811 xref: SNOMEDCT_US_2023_03_01:94006002 xref: UMLS_CUI:C0153436 is_a: DOID:219 ! colon cancer [Term] id: DOID:12196 name: superficial keratitis xref: ICD10CM:H16.10 xref: ICD9CM:370.20 xref: SNOMEDCT_US_2023_03_01:27019000 xref: UMLS_CUI:C0155074 is_a: DOID:4677 ! keratitis [Term] id: DOID:12197 name: punctate epithelial keratoconjunctivitis synonym: "Punctate keratitis" EXACT [] synonym: "Thygeson superficial punctate keratitis" EXACT [] synonym: "Thygeson's superficial punctate keratitis" EXACT [] xref: ICD10CM:H16.14 xref: ICD9CM:370.21 xref: SNOMEDCT_US_2023_03_01:193767008 xref: UMLS_CUI:C0259799 is_a: DOID:9368 ! keratoconjunctivitis [Term] id: DOID:122 name: obsolete abdominal cancer def: "A cancer by anatomical entitiy that affects the organs in the abdominal cavity." [] synonym: "abdomen neoplasm" EXACT [] is_obsolete: true [Term] id: DOID:12204 name: obsolete catatonic schizophrenia in remission synonym: "Catatonic schizophrenia in remission (disorder)" EXACT [] synonym: "Catatonic type schizophrenia, in remission" EXACT [] is_obsolete: true [Term] id: DOID:12205 name: dengue disease alt_id: DOID:0050142 def: "A viral infectious disease that results in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding." [url:http\://www.cdc.gov/dengue/fAQFacts/index.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "breakbone fever" EXACT [] synonym: "classic dengue" EXACT [] synonym: "classical dengue" RELATED [] synonym: "Dengue Fever" EXACT [] xref: GARD:6254 xref: ICD10CM:A90 xref: ICD9CM:061 xref: MESH:D003715 xref: NCI:C34528 xref: SNOMEDCT_US_2023_03_01:38362002 xref: UMLS_CUI:C0011311 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:12206 name: dengue hemorrhagic fever def: "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC88892/pdf/cm000480.pdf, url:http\://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001373.htm, url:http\://www.who.int/mediacentre/factsheets/fs117/en/, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue%20hemorrhagic%20fever] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Dengue haemorrhagic fever" RELATED [] synonym: "DHF" EXACT OMO:0003012 [] xref: ICD10CM:A91 xref: MESH:D019595 xref: NCI:C34683 xref: SNOMEDCT_US_2023_03_01:20927009 xref: UMLS_CUI:C0019100 is_a: DOID:12205 ! dengue disease [Term] id: DOID:1221 name: obsolete infiltrative lung tuberculosis def: "A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung." [url:http\://www.aic.cuhk.edu.hk/web8/Very%20BASIC%20CXR%20lungs.htm] subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:12210 name: obsolete Wuchereria bancrofti filariasis def: "A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis." [url:http\://en.wikipedia.org/wiki/Wuchereria_bancrofti] synonym: "Bancroftian filariasis" EXACT [] synonym: "Infection by Wuchereria bancrofti (disorder)" EXACT [] synonym: "Infection due to Wuchereria bancrofti" EXACT [] synonym: "Wuchereria bancrofti infectious disease" EXACT [] is_obsolete: true [Term] id: DOID:12211 name: filarial elephantiasis alt_id: DOID:13433 def: "A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis." [url:https\://www.cdc.gov/parasites/lymphaticfilariasis/index.html, url:https\://www.who.int/news-room/fact-sheets/detail/lymphatic-filariasis] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Bancroftian elephantiasis" EXACT [] synonym: "Bancroftian filarial chyluria" EXACT [] synonym: "elephantiasis of eyelid" EXACT [] synonym: "Lymphatic filariasis" EXACT [] xref: MESH:D004605 xref: NCI:C128360 xref: SNOMEDCT_US_2023_03_01:240820001 xref: UMLS_CUI:C0013884 is_a: DOID:1080 ! filariasis is_a: DOID:37 ! skin disease [Term] id: DOID:12215 name: oligohydramnios alt_id: DOID:12595 alt_id: DOID:12596 def: "A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion." [url:http\://www.merriam-webster.com/medlineplus/oligohydramnios] subset: NCIthesaurus synonym: "antepartum oligohydramnios" EXACT [] synonym: "delivered oligohydramnios" EXACT [] synonym: "Oligohydramnios - delivered" EXACT [] xref: ICD10CM:O41.0 xref: ICD9CM:658.0 xref: MESH:D016104 xref: NCI:C92839 xref: SNOMEDCT_US_2023_03_01:157051001 xref: UMLS_CUI:C0079924 is_a: DOID:780 ! placenta disease [Term] id: DOID:12217 name: Lewy body dementia def: "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." [url:http\://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies, url:http\://www.mayoclinic.org/diseases-conditions/lewy-body-dementia/basics/definition/CON-20025038] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Dementia with Lewy bodies" EXACT [] synonym: "Diffuse Lewy body disease" EXACT [] synonym: "Lewy body disease" EXACT [] synonym: "Senile dementia of the Lewy body type" EXACT [] xref: GARD:3243 xref: ICD10CM:G31.83 xref: ICD9CM:331.82 xref: MESH:D020961 xref: MIM:127750 xref: NCI:C84826 xref: SNOMEDCT_US_2023_03_01:192808003 xref: UMLS_CUI:C0752347 is_a: DOID:1307 ! dementia [Term] id: DOID:1222 name: cartilage disease def: "A connective tissue disease that is located_in cartilage." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146013/] synonym: "Cartilage disorder" EXACT [] synonym: "Chondropathy" EXACT [] xref: ICD10CM:M94.9 xref: MESH:D002357 xref: SNOMEDCT_US_2023_03_01:50927007 xref: UMLS_CUI:C0007302 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:12221 name: obsolete Synovial, tendon or bursa disorder synonym: "Synovial, tendon or bursa disorder NOS (disorder)" EXACT [] synonym: "Unspecified disorder of synovium, tendon, and bursa" EXACT [] is_obsolete: true [Term] id: DOID:12223 name: specific bursitis often of occupational origin synonym: "Specific bursitides often of occupational origin" EXACT [] xref: ICD9CM:727.2 xref: SNOMEDCT_US_2023_03_01:42812006 xref: UMLS_CUI:C0158332 is_a: DOID:2965 ! bursitis [Term] id: DOID:12224 name: obsolete calcium deposits in tendon and bursa is_obsolete: true [Term] id: DOID:12225 name: Plica syndrome xref: ICD10CM:M67.5 xref: ICD9CM:727.83 xref: MESH:D013585 xref: UMLS_CUI:C0878705 is_a: DOID:381 ! arthropathy [Term] id: DOID:12226 name: obsolete hearing disease synonym: "Auditory dysfunction (disorder)" EXACT [] synonym: "disorder of auditory system (disorder)" EXACT [] synonym: "Hearing disorder" EXACT [] synonym: "hearing disorder" EXACT [] synonym: "Hearing disorder (finding)" EXACT [] synonym: "Hearing problem (finding)" EXACT [] is_obsolete: true [Term] id: DOID:12228 name: obsolete secondary malignant neoplasm of large intestine and rectum synonym: "secondary malignant neoplasm of large intestine and rectum (disorder)" EXACT [] synonym: "secondary malignant neoplasm of large intestine or rectum NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12234 name: cascade stomach synonym: "Hourglass stricture or stenosis of stomach" EXACT [] xref: ICD10CM:K31.2 xref: ICD9CM:537.6 xref: SNOMEDCT_US_2023_03_01:54051005 xref: UMLS_CUI:C0267183 is_a: DOID:76 ! stomach disease [Term] id: DOID:12236 name: primary biliary cholangitis alt_id: DOID:1851 def: "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts." [url:http\://en.wikipedia.org/wiki/Primary_biliary_cirrhosis, url:http\://www.merckmanuals.com/professional/hepatic_and_biliary_disorders/fibrosis_and_cirrhosis/primary_biliary_cirrhosis_pbc.html?qt=primary%20biliary%20cirrhosis&alt=sh, url:https\://www.mayoclinic.org/diseases-conditions/primary-biliary-cholangitis-pbc/symptoms-causes/syc-20376874] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "biliary liver cirrhosis" EXACT [] synonym: "cholestatic cirrhosis" EXACT [] synonym: "chronic nonsuppurative destructive cholangitis" EXACT [] synonym: "primary biliary cirrhosis" EXACT [] xref: EFO:0004267 xref: GARD:7459 xref: ICD10CM:K74.3 xref: ICD10CM:K74.5 xref: ICD9CM:571.6 xref: MESH:D008105 xref: MIM:PS109720 xref: NCI:C27167 xref: NCI:C51225 xref: ORDO:186 xref: SNOMEDCT_US_2023_03_01:1761006 xref: SNOMEDCT_US_2023_03_01:31712002 xref: UMLS_CUI:C0008312 xref: UMLS_CUI:C0023892 is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract is_a: DOID:5082 ! liver cirrhosis [Term] id: DOID:12237 name: bile reflux def: "A biliary tract disease characterized by the flow of bile up into the stomach and/or esophagus." [url:https\://en.wikipedia.org/wiki/Biliary_reflux, url:https\://www.mayoclinic.org/diseases-conditions/bile-reflux/symptoms-causes/syc-20370115] xref: MESH:D001655 xref: UMLS_CUI:C0005403 is_a: DOID:9741 ! biliary tract disease [Term] id: DOID:12239 name: anal margin squamous cell carcinoma subset: NCIthesaurus synonym: "Perianal skin squamous cell carcinoma" EXACT [] xref: ICD10CM:C44.520 xref: NCI:C6925 xref: SNOMEDCT_US_2023_03_01:255084004 xref: UMLS_CUI:C1412037 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4284 ! anal margin carcinoma [Term] id: DOID:12241 name: beta thalassemia def: "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin." [url:http\://en.wikipedia.org/wiki/Beta_thalassemia, url:https\://ghr.nlm.nih.gov/condition/beta-thalassemia, url:https\://pubmed.ncbi.nlm.nih.gov/31030806/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1426/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10395635] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:871 xref: ICD10CM:D56.1 xref: ICD9CM:282.44 xref: MESH:D017086 xref: MIM:613985 xref: NCI:C34375 xref: ORDO:848 xref: SNOMEDCT_US_2023_03_01:65959000 xref: UMLS_CUI:C0005283 is_a: DOID:10241 ! thalassemia property_value: narrowMatch "MESH:D017086" xsd:string [Term] id: DOID:12245 name: obsolete histoplasmosis endocarditis def: "A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions." [url:http\://emedicine.medscape.com/article/299054-overview] synonym: "Histoplasma capsulatum endocarditis" EXACT [] synonym: "Histoplasma capsulatum with endocarditis (disorder)" EXACT [] synonym: "Histoplasmosis with endocarditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12246 name: histoplasmosis meningitis subset: DO_infectious_disease_slim synonym: "Histoplasmosis with meningitis" EXACT [] xref: ICD9CM:115.91 xref: SNOMEDCT_US_2023_03_01:187057005 xref: UMLS_CUI:C0153277 is_a: DOID:11608 ! fungal meningitis [Term] id: DOID:12251 name: obsolete hypoaldosteronism synonym: "Aldosterone deficiency (disorder)" EXACT [] synonym: "hypoaldosteronism" EXACT [] is_obsolete: true [Term] id: DOID:12252 name: obsolete Cushing's syndrome def: "An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland." [url:http\://www.britannica.com/EBchecked/topic/147320/Cushing-syndrome] is_obsolete: true [Term] id: DOID:12253 name: testicular lymphoma subset: NCIthesaurus synonym: "lymphoma of the testis" EXACT [] synonym: "malignant lymphoma of testis" EXACT [] xref: NCI:C6810 xref: SNOMEDCT_US_2023_03_01:277664004 xref: UMLS_CUI:C0349644 is_a: DOID:0060058 ! lymphoma is_a: DOID:2998 ! testicular cancer [Term] id: DOID:12254 name: obsolete metastatic tumor to the testis synonym: "metastatic neoplasm to the testis" EXACT [] synonym: "secondary malignant neoplasm of testis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12255 name: obsolete congenital adrenal hyperplasia synonym: "Congenital Adrenal hyperplasia" EXACT [] synonym: "congenital adrenal hyperplasia" EXACT [] synonym: "Congenital adrenal hyperplasia (disorder)" EXACT [] synonym: "Congenital adrenal hyperplasia, NOS" EXACT [] is_obsolete: true [Term] id: DOID:12256 name: obsolete adrenogenital disease is_obsolete: true [Term] id: DOID:12257 name: medulloadrenal hyperfunction xref: ICD10CM:E27.5 xref: ICD9CM:255.6 xref: SNOMEDCT_US_2023_03_01:111565003 xref: UMLS_CUI:C0154206 is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:12258 name: obsolete acquired factor IX deficiency synonym: "acquired factor IX deficiency disease (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12259 name: hemophilia B def: "A blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000539.htm] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Congenital factor IX deficiency" EXACT [] synonym: "Congenital factor IX disorder" EXACT [] synonym: "deficiency, functional factor IX" EXACT [] synonym: "factor IX deficiency" EXACT [] xref: GARD:8732 xref: ICD10CM:D67 xref: ICD9CM:286.1 xref: MESH:D002836 xref: MIM:306900 xref: NCI:C26721 xref: SNOMEDCT_US_2023_03_01:41788008 xref: UMLS_CUI:C0008533 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:12265 name: chronic salpingo-oophoritis synonym: "chronic salpingitis and oophoritis" EXACT [] synonym: "chronic salpingitis/oophoritis" EXACT [] xref: ICD10CM:N70.1 xref: ICD9CM:614.1 xref: SNOMEDCT_US_2023_03_01:198142001 xref: UMLS_CUI:C0156328 is_a: DOID:10972 ! salpingo-oophoritis [Term] id: DOID:12268 name: obsolete eclampsia with delivery is_obsolete: true [Term] id: DOID:12269 name: obsolete Toxemia with convulsions complicating pregnancy, childbirth or the puerperium is_obsolete: true [Term] id: DOID:1227 name: neutropenia xref: ICD10CM:D70 xref: ICD9CM:288.0 xref: MESH:D009503 xref: SNOMEDCT_US_2023_03_01:191336001 xref: UMLS_CUI:C0027947 is_a: DOID:12987 ! agranulocytosis [Term] id: DOID:12270 name: coloboma def: "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc." [url:http\://en.wikipedia.org/wiki/Coloboma, url:http\://ghr.nlm.nih.gov/condition/coloboma] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "coloboma of eye" EXACT [] synonym: "coloboma of macula" EXACT [] synonym: "congenital ocular coloboma" EXACT [] xref: GARD:1433 xref: ICD10CM:Q13.0 xref: MESH:D003103 xref: MIM:120200 xref: MIM:120300 xref: MIM:216820 xref: NCI:C98877 xref: ORDO:194 xref: ORDO:98945 xref: SNOMEDCT_US_2023_03_01:93390002 xref: UMLS_CUI:C0009363 is_a: DOID:5614 ! eye disease [Term] id: DOID:12271 name: aniridia def: "An iris disease that is characterized by a complete or partial absence of the colored part of the eye." [url:https\://medlineplus.gov/genetics/condition/aniridia/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Aplasia of iris" EXACT [] synonym: "isolated aniridia" EXACT [] xref: GARD:5816 xref: ICD10CM:Q13.1 xref: ICD9CM:743.45 xref: MESH:D015783 xref: MIM:PS106210 xref: NCI:C84563 xref: ORDO:250923 xref: SNOMEDCT_US_2023_03_01:69278003 xref: UMLS_CUI:C0003076 is_a: DOID:240 ! iris disease property_value: exactMatch "GARD:5816" xsd:string property_value: exactMatch "ICD10CM:Q13.1" xsd:string property_value: exactMatch "ICD9CM:743.45" xsd:string property_value: exactMatch "MESH:D015783" xsd:string property_value: exactMatch "MIM:PS106210" xsd:string property_value: exactMatch "NCI:C84563" xsd:string property_value: exactMatch "ORDO:250923" xsd:string property_value: exactMatch "UMLS_CUI:C0003076" xsd:string [Term] id: DOID:12273 name: anisometropia xref: ICD10CM:H52.31 xref: ICD9CM:367.31 xref: MESH:D015858 xref: SNOMEDCT_US_2023_03_01:3289004 xref: UMLS_CUI:C0003081 is_a: DOID:9835 ! refractive error property_value: exactMatch "MESH:D015858" xsd:string [Term] id: DOID:12274 name: obsolete anisometropia and aniseikonia synonym: "Anisometropia and aniseikonia (disorder)" EXACT [] synonym: "Anisometropia or aniseikonia NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12275 name: cutaneous diphtheria def: "A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin." [url:http\://en.wikipedia.org/wiki/Diphtheria, url:http\://www.merck.com/mmpe/sec14/ch172/ch172c.html, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A1746] subset: NCIthesaurus xref: ICD10CM:A36.3 xref: ICD9CM:032.85 xref: NCI:C34544 xref: SNOMEDCT_US_2023_03_01:18901009 xref: UMLS_CUI:C0012555 is_a: DOID:4223 ! pyoderma [Term] id: DOID:12276 name: malignant tumor of undescended testis synonym: "malignant neoplasm of retained testis" EXACT [] synonym: "malignant neoplasm of undescended testis" EXACT [] synonym: "malignant tumor of retained testis" EXACT [] synonym: "malignant tumour of retained testis" EXACT [] synonym: "malignant tumour of undescended testis" EXACT [] xref: ICD10CM:C62.0 xref: ICD9CM:186.0 xref: SNOMEDCT_US_2023_03_01:188219004 xref: UMLS_CUI:C0153595 is_a: DOID:2998 ! testicular cancer [Term] id: DOID:1228 name: obsolete paranoid type schizophrenia in remission is_obsolete: true [Term] id: DOID:12282 name: femoral vein thrombophlebitis synonym: "Phlebitis and thrombophlebitis of femoral vein" EXACT [] synonym: "Thrombophlebitis of deep femoral vein" EXACT [] synonym: "Thrombophlebitis of the femoral vein" EXACT [] xref: ICD10CM:I80.1 xref: ICD9CM:451.11 xref: SNOMEDCT_US_2023_03_01:195410000 xref: UMLS_CUI:C0265066 is_a: DOID:3875 ! thrombophlebitis [Term] id: DOID:12284 name: obsolete maternal pyrexia in labor is_obsolete: true [Term] id: DOID:12286 name: testicular leukemia subset: NCIthesaurus xref: NCI:C9277 xref: UMLS_CUI:C1336711 is_a: DOID:2998 ! testicular cancer [Term] id: DOID:12287 name: Crimean-Congo hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthonairovirus haemorrhagiae, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/cchf.htm, url:http\://www.who.int/mediacentre/factsheets/fs208/en/] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "CHF Congo virus" EXACT [] synonym: "Congo-Crimean Hemorrhagic Fever" EXACT [] synonym: "Crimean hemorrhagic fever" EXACT [] xref: ICD10CM:A98.0 xref: ICD9CM:065.0 xref: MESH:D006479 xref: NCI:C34682 xref: SNOMEDCT_US_2023_03_01:43489008 xref: UMLS_CUI:C0019099 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:1229 name: paranoid schizophrenia alt_id: DOID:11238 alt_id: DOID:1230 def: "A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening." [url:http\://en.wikipedia.org/wiki/Paranoid_schizophrenia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000936.htm] subset: NCIthesaurus synonym: "chronic paranoid schizophrenia" EXACT [] synonym: "Paranoid type schizophrenia" EXACT [] synonym: "paranoid type schizophrenia subchronic state" EXACT [] synonym: "Paraphrenia - late" EXACT [] synonym: "Paraphrenic schizophrenia" EXACT [] xref: ICD10CM:F20.0 xref: ICD9CM:295.3 xref: ICD9CM:295.32 xref: MESH:D012563 xref: NCI:C35006 xref: SNOMEDCT_US_2023_03_01:154865007 xref: SNOMEDCT_US_2023_03_01:191553009 xref: UMLS_CUI:C0036349 xref: UMLS_CUI:C0270398 is_a: DOID:5419 ! schizophrenia [Term] id: DOID:12292 name: obsolete recurrent malignant endocervical neoplasm is_obsolete: true [Term] id: DOID:12294 name: atypical depressive disorder def: "A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection." [url:http\://en.wikipedia.org/wiki/Mood_disorder] synonym: "Atypical depression" EXACT [] xref: ICD10CM:F32.89 xref: ICD9CM:296.82 xref: SNOMEDCT_US_2023_03_01:277538003 xref: UMLS_CUI:C0154437 is_a: DOID:3324 ! mood disorder [Term] id: DOID:12297 name: Vogt-Koyanagi-Harada disease def: "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." [url:http\://en.wikipedia.org/wiki/Vogt%E2%80%93Koyanagi%E2%80%93Harada_syndrome] {comment="ls:IEDB"} subset: DO_rare_slim subset: NCIthesaurus synonym: "Harada's disease" EXACT [] synonym: "uveomeningoencephalitic syndrome" EXACT [] synonym: "Vogt-Koyanagi syndrome" EXACT [] xref: GARD:7862 xref: ICD10CM:H20.82 xref: ICD9CM:364.24 xref: MESH:D014607 xref: NCI:C85218 xref: SNOMEDCT_US_2023_03_01:44923005 xref: UMLS_CUI:C0042170 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue [Term] id: DOID:12298 name: intrahepatic gall duct cancer synonym: "Ca intrahepatic bile ducts" EXACT [] synonym: "malignant neoplasm of intrahepatic bile ducts" EXACT [] synonym: "malignant neoplasm of intrahepatic biliary passages" EXACT [] synonym: "malignant neoplasm of intrahepatic gall duct" EXACT [] xref: ICD9CM:155.1 xref: SNOMEDCT_US_2023_03_01:187777008 xref: UMLS_CUI:C0546835 is_a: DOID:3121 ! gallbladder cancer [Term] id: DOID:12301 name: obsolete speckled lentiginous nevus synonym: "Naevus spilus" EXACT [] synonym: "nevus spilus (disorder)" EXACT [] synonym: "Speckled lentiginous naevus" EXACT [] is_obsolete: true [Term] id: DOID:12302 name: obsolete diphtheritic membranous angina def: "A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils." [url:http\://www.nature.com/icb/journal/v17/n4/pdf/icb193934a.pdf, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2052735/pdf/brmedj03773-0009.pdf] subset: gram-positive_bacterial_infectious_disease synonym: "Faucial Diphtheria" EXACT [] synonym: "Faucial diphtheria" EXACT [] synonym: "Faucial diphtheria (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12304 name: conjunctival pigmentation xref: ICD10CM:H11.13 xref: ICD9CM:372.55 xref: SNOMEDCT_US_2023_03_01:267645009 xref: UMLS_CUI:C0155163 is_a: DOID:10123 ! pigmentation disease [Term] id: DOID:12305 name: Bloch-Sulzberger syndrome comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Incontinentia pigmenti" EXACT [] synonym: "Incontinentia pigmenti syndrome" EXACT [] xref: ICD10CM:Q82.3 xref: MESH:D007184 xref: MIM:308300 xref: NCI:C84787 xref: SNOMEDCT_US_2023_03_01:205567005 xref: UMLS_CUI:C0021171 is_a: DOID:10123 ! pigmentation disease [Term] id: DOID:12306 name: vitiligo def: "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes." [url:http\://en.wikipedia.org/wiki/Vitiligo] {comment="ls:IEDB"} comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus xref: EFO:0004208 xref: GARD:10751 xref: ICD10CM:L80 xref: ICD9CM:709.01 xref: MESH:D014820 xref: MIM:193200 xref: NCI:C26915 xref: SNOMEDCT_US_2023_03_01:156437000 xref: UMLS_CUI:C0042900 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue [Term] id: DOID:12307 name: anterior corneal pigmentation synonym: "Anterior corneal pigmentations" EXACT [] xref: ICD10CM:H18.01 xref: ICD9CM:371.11 xref: SNOMEDCT_US_2023_03_01:18377001 xref: UMLS_CUI:C0155104 is_a: DOID:11547 ! corneal deposit [Term] id: DOID:12308 name: Dubin-Johnson syndrome def: "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile." [url:http\://en.wikipedia.org/wiki/Dubin-Johnson_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "chronic idiopathic jaundice" EXACT [] synonym: "Dubin Johnson syndrome" EXACT [] xref: GARD:6289 xref: ICD10CM:E80.6 xref: MESH:D007566 xref: MIM:237500 xref: NCI:C34741 xref: SNOMEDCT_US_2023_03_01:44553005 xref: UMLS_CUI:C0022350 is_a: DOID:2741 ! bilirubin metabolic disorder [Term] id: DOID:12309 name: urticaria pigmentosa comment: OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus synonym: "UP/MPCM" EXACT OMO:0003012 [] xref: ICD10CM:D47.01 xref: MESH:D014582 xref: NCI:C3433 xref: SNOMEDCT_US_2023_03_01:205566001 xref: UMLS_CUI:C0042111 is_a: DOID:3663 ! cutaneous mastocytosis property_value: exactMatch "MESH:D014582" xsd:string [Term] id: DOID:1231 name: obsolete chronic schizophrenia comment: Due to nomenclature revisions chronic schizophrenia has been replaced by schizophrenia. synonym: "chronic Schizophrenia" EXACT [] synonym: "chronic schizophrenia (disorder)" EXACT [] is_obsolete: true replaced_by: DOID:5419 [Term] id: DOID:12311 name: stromal corneal pigmentation synonym: "Stromal corneal pigmentations" EXACT [] xref: ICD10CM:H18.06 xref: ICD9CM:371.12 xref: SNOMEDCT_US_2023_03_01:55031000 xref: UMLS_CUI:C0155105 is_a: DOID:10123 ! pigmentation disease [Term] id: DOID:12318 name: granular corneal dystrophy def: "An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea." [url:https\://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm] subset: NCIthesaurus xref: ICD10CM:H18.53 xref: ICD9CM:371.53 xref: MESH:D003317 xref: NCI:C34651 xref: SNOMEDCT_US_2023_03_01:45283008 xref: UMLS_CUI:C0018179 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy [Term] id: DOID:1232 name: obsolete paranoid type schizophrenia subchronic state with acute exacerbation is_obsolete: true [Term] id: DOID:12323 name: cough variant asthma def: "A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19272144] xref: ICD10CM:J45.991 xref: ICD9CM:493.82 xref: SNOMEDCT_US_2023_03_01:409663006 xref: UMLS_CUI:C0694548 is_a: DOID:0080809 ! chronic asthma [Term] id: DOID:12324 name: obsolete transsexuality with homosexual history synonym: "Trans-sexualism with homosexual history" EXACT [] synonym: "Transsexuality with homosexual history (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12325 name: kyphoscoliotic heart disease xref: ICD10CM:I27.1 xref: ICD9CM:416.1 xref: SNOMEDCT_US_2023_03_01:194886003 xref: UMLS_CUI:C0152102 is_a: DOID:12326 ! chronic pulmonary heart disease [Term] id: DOID:12326 name: chronic pulmonary heart disease xref: ICD9CM:416.8 xref: SNOMEDCT_US_2023_03_01:194887007 xref: UMLS_CUI:C0155673 is_a: DOID:8515 ! Cor pulmonale [Term] id: DOID:12328 name: marasmus def: "A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation." [url:https\://www.jpedhc.org/article/S0891-5245(96)90071-1/pdf] synonym: "Nutritional atrophy" EXACT [] synonym: "Nutritional marasmus" EXACT [] xref: ICD10CM:E41 xref: ICD9CM:261 xref: MESH:D011502 xref: SNOMEDCT_US_2023_03_01:154730001 xref: UMLS_CUI:C0086588 is_a: DOID:11801 ! protein-energy malnutrition [Term] id: DOID:1233 name: transvestism subset: NCIthesaurus synonym: "cross dresser" EXACT [] synonym: "Dual-role transvestism" EXACT [] synonym: "Fetishistic transvestism" EXACT [] synonym: "Transvestic fetishism" EXACT [] xref: ICD10CM:F64.1 xref: ICD9CM:302.3 xref: MESH:D014190 xref: NCI:C94359 xref: SNOMEDCT_US_2023_03_01:472948001 xref: UMLS_CUI:C0040774 is_a: DOID:1235 ! fetishism [Term] id: DOID:12332 name: hematocele of tunica vaginalis testis synonym: "Hematocele" EXACT [] synonym: "male hematocele" EXACT [] xref: MESH:D006398 xref: SNOMEDCT_US_2023_03_01:66259004 xref: UMLS_CUI:C0018931 is_a: DOID:2519 ! testicular disease [Term] id: DOID:12333 name: male genital organ stricture synonym: "Stricture of male genital organs" EXACT [] xref: ICD9CM:608.85 xref: SNOMEDCT_US_2023_03_01:198064007 xref: UMLS_CUI:C0156316 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:12335 name: male genital organ vascular disease synonym: "vascular disorder of male genital organs" EXACT [] xref: ICD10CM:N50.1 xref: ICD9CM:608.83 xref: SNOMEDCT_US_2023_03_01:198057005 xref: UMLS_CUI:C0042374 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:12336 name: male infertility xref: ICD10CM:N46 xref: ICD9CM:606 xref: MESH:D007248 xref: SNOMEDCT_US_2023_03_01:155924001 xref: UMLS_CUI:C0021364 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:12337 name: varicocele synonym: "Scrotal varices" EXACT [] xref: ICD10CM:I86.1 xref: ICD9CM:456.4 xref: MESH:D014646 xref: SNOMEDCT_US_2023_03_01:195480007 xref: UMLS_CUI:C0042341 is_a: DOID:9742 ! pelvic varices [Term] id: DOID:12338 name: obsolete redundant prepuce and phimosis is_obsolete: true [Term] id: DOID:12339 name: retroperitoneal lymphoma subset: NCIthesaurus xref: NCI:C7353 xref: UMLS_CUI:C1335779 is_a: DOID:0060058 ! lymphoma is_a: DOID:5875 ! retroperitoneal cancer [Term] id: DOID:1234 name: gender incongruence alt_id: DOID:10919 def: "A sexual health disorder that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001527.htm] synonym: "gender dysphoria" EXACT [] synonym: "gender identify disorder" EXACT [] synonym: "transsexualism" EXACT [] xref: ICD10CM:F64.2 xref: ICD9CM:302.50 xref: ICD9CM:302.6 xref: SNOMEDCT_US_2023_03_01:191782007 xref: SNOMEDCT_US_2023_03_01:5095008 xref: UMLS_CUI:C0040630 xref: UMLS_CUI:C0236802 is_a: DOID:0060043 ! sexual health disorder [Term] id: DOID:12341 name: retroperitoneal sarcoma def: "A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space." [url:http\://en.wikipedia.org/wiki/Retroperitoneal_space, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1665230/] subset: NCIthesaurus xref: NCI:C4832 xref: SNOMEDCT_US_2023_03_01:307219002 xref: UMLS_CUI:C0585129 is_a: DOID:5875 ! retroperitoneal cancer [Term] id: DOID:12342 name: retroperitoneum carcinoma subset: NCIthesaurus synonym: "carcinoma of Retroperitoneum" EXACT [] synonym: "carcinoma of the retroperitoneum" RELATED [] xref: NCI:C7352 xref: UMLS_CUI:C0948749 is_a: DOID:305 ! carcinoma is_a: DOID:5875 ! retroperitoneal cancer [Term] id: DOID:12346 name: obsolete hyperkinetic heart syndrome synonym: "hyperkinetic heart disease" RELATED [] is_obsolete: true [Term] id: DOID:12347 name: osteogenesis imperfecta alt_id: DOID:14708 def: "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." [url:http\://en.wikipedia.org/wiki/Osteogenesis_imperfecta, url:http\://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00051, url:http\://osteogenesisimperfecta.org/, url:http\://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001573.htm] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "brittle bone disease" EXACT [] synonym: "Fragilitas ossium" RELATED [] synonym: "Lobstein's syndrome" EXACT [] synonym: "Osteopsathyrosis" EXACT [] synonym: "Vrolik's disease" EXACT [] xref: GARD:1017 xref: ICD10CM:Q78.0 xref: ICD9CM:756.51 xref: MESH:D010013 xref: MIM:PS166200 xref: NCI:C26837 xref: ORDO:666 xref: SNOMEDCT_US_2023_03_01:254109004 xref: UMLS_CUI:C0029434 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:12349 name: primary eye hypotony synonym: "primary hypotony of eye" EXACT [] xref: ICD10CM:H44.44 xref: ICD9CM:360.31 xref: SNOMEDCT_US_2023_03_01:2251002 xref: UMLS_CUI:C0154782 is_a: DOID:790 ! ocular hypotension [Term] id: DOID:1235 name: fetishism subset: NCIthesaurus xref: ICD10CM:F65.0 xref: ICD9CM:302.81 xref: MESH:D005329 xref: NCI:C94353 xref: SNOMEDCT_US_2023_03_01:192513009 xref: UMLS_CUI:C0015957 is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:12351 name: alcoholic hepatitis alt_id: DOID:12350 subset: NCIthesaurus synonym: "acute alcoholic hepatitis" EXACT [] synonym: "acute alcoholic liver disease" EXACT [] xref: ICD9CM:571.1 xref: NCI:C34352 xref: SNOMEDCT_US_2023_03_01:9953008 xref: UMLS_CUI:C0001306 is_a: DOID:2237 ! hepatitis [Term] id: DOID:12355 name: prostatocystitis xref: ICD10CM:N41.3 xref: ICD9CM:601.3 xref: SNOMEDCT_US_2023_03_01:67685000 xref: UMLS_CUI:C0156291 is_a: DOID:1679 ! cystitis [Term] id: DOID:12356 name: obsolete bacterial prostatitis is_obsolete: true [Term] id: DOID:12357 name: viral labyrinthitis def: "A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur." [url:http\://books.google.com/books?id=uCDyjzqAL3wC&pg=PA69&lpg#v=onepage&q=&f=false] subset: DO_infectious_disease_slim synonym: "Epidemic vertigo" EXACT [] xref: ICD9CM:386.35 xref: SNOMEDCT_US_2023_03_01:34243007 xref: UMLS_CUI:C0155508 is_a: DOID:1468 ! labyrinthitis is_a: DOID:934 ! viral infectious disease [Term] id: DOID:12358 name: patulous eustachian tube def: "A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection." [url:http\://books.google.com/books?id=UQ-rOpK6oScC&pg=PA53&lpg#v=onepage&q=&f=false] subset: DO_rare_slim xref: GARD:10812 xref: ICD10CM:H69.0 xref: ICD9CM:381.7 xref: SNOMEDCT_US_2023_03_01:30280005 xref: UMLS_CUI:C0155434 is_a: DOID:9739 ! eustachian tube disease [Term] id: DOID:12359 name: endocrine exophthalmos xref: ICD9CM:376.2 xref: SNOMEDCT_US_2023_03_01:53061005 xref: UMLS_CUI:C0155264 is_a: DOID:930 ! orbital disease [Term] id: DOID:12360 name: lateral displacement of eye synonym: "Lateral displacement of globe" EXACT [] xref: ICD10CM:H05.21 xref: ICD9CM:376.36 xref: SNOMEDCT_US_2023_03_01:48747004 xref: UMLS_CUI:C0155272 is_a: DOID:930 ! orbital disease [Term] id: DOID:12361 name: Graves' disease def: "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland." [url:http\://en.wikipedia.org/wiki/Graves_disease] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Basedow's disease" RELATED [] synonym: "exophthalmic goiter" EXACT [] synonym: "Grave's disease" EXACT [] synonym: "Graves disease" EXACT [] xref: EFO:0004237 xref: ICD10CM:E05.0 xref: MESH:D006111 xref: MIM:275000 xref: NCI:C3071 xref: SNOMEDCT_US_2023_03_01:154655004 xref: UMLS_CUI:C0018213 is_a: DOID:0060005 ! autoimmune disease of endocrine system [Term] id: DOID:12362 name: thyrotoxic exophthalmos xref: ICD9CM:376.21 xref: SNOMEDCT_US_2023_03_01:19885005 xref: UMLS_CUI:C0155265 is_a: DOID:12359 ! endocrine exophthalmos [Term] id: DOID:12363 name: intermittent proptosis synonym: "Intermittent exophthalmos" EXACT [] xref: ICD10CM:H05.25 xref: ICD9CM:376.34 xref: SNOMEDCT_US_2023_03_01:49774006 xref: UMLS_CUI:C0155270 is_a: DOID:930 ! orbital disease [Term] id: DOID:12364 name: pulsating exophthalmos xref: ICD10CM:H05.26 xref: ICD9CM:376.35 xref: SNOMEDCT_US_2023_03_01:2284002 xref: UMLS_CUI:C0155271 is_a: DOID:930 ! orbital disease [Term] id: DOID:12365 name: malaria alt_id: DOID:12552 def: "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle." [url:http\://en.wikipedia.org/wiki/Malaria, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malaria] comment: Xref MGI. subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "induced malaria" EXACT [] xref: EFO:0001068 xref: GARD:6961 xref: ICD10CM:B54 xref: ICD9CM:084 xref: MESH:D008288 xref: NCI:C34797 xref: ORDO:673 xref: SNOMEDCT_US_2023_03_01:154374002 xref: UMLS_CUI:C0024530 is_a: DOID:2789 ! parasitic protozoa infectious disease [Term] id: DOID:12369 name: prolapse of urethra def: "A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening." [url:https\://en.wikipedia.org/wiki/Urethrocele] synonym: "Urethrocele" EXACT [] xref: ICD10CM:N81.0 xref: ICD9CM:618.03 xref: SNOMEDCT_US_2023_03_01:12068006 xref: UMLS_CUI:C0238502 is_a: DOID:1284 ! prolapse of female genital organ is_a: DOID:732 ! urethral disease [Term] id: DOID:1237 name: corneal degeneration xref: ICD10CM:H18.4 xref: ICD9CM:371.4 xref: SNOMEDCT_US_2023_03_01:111521006 xref: UMLS_CUI:C0155118 is_a: DOID:10124 ! corneal disease is_a: DOID:9799 ! eye degenerative disease [Term] id: DOID:12375 name: bronchopneumonia def: "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchopneumonia] subset: NCIthesaurus synonym: "bronchial pneumonia" EXACT [] synonym: "Chest infection - bronchopneumonia" EXACT [] synonym: "lobular pneumonia" EXACT [] xref: ICD10CM:J18.0 xref: ICD9CM:485 xref: MESH:D001996 xref: NCI:C26710 xref: SNOMEDCT_US_2023_03_01:155551009 xref: UMLS_CUI:C0006285 is_a: DOID:552 ! pneumonia [Term] id: DOID:12376 name: juvenile spinal muscular atrophy alt_id: DOID:13161 def: "A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13." [url:https\://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Kugelberg-Welander disease" EXACT [] synonym: "SMA3" EXACT OMO:0003012 [] synonym: "Spinal Muscular Atrophy Type 3" EXACT [] synonym: "Type III Spinal Muscular Atrophy" EXACT [] xref: ICD9CM:335.11 xref: MESH:D014897 xref: MIM:253400 xref: NCI:C118847 xref: SNOMEDCT_US_2023_03_01:54280009 xref: UMLS_CUI:C0152109 is_a: DOID:0060160 ! childhood spinal muscular atrophy [Term] id: DOID:12377 name: spinal muscular atrophy def: "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy." [url:http\://en.wikipedia.org/wiki/Spinal_muscular_atrophy, url:https\://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy, url:https\://www.genome.gov/Genetic-Disorders/Spinal-Muscular-Atrophy, url:https\://www.ncbi.nlm.nih.gov/pubmed/26022173] subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7674 xref: ICD10CM:G12.9 xref: ICD9CM:335.1 xref: MESH:D009134 xref: NCI:C85075 xref: SNOMEDCT_US_2023_03_01:5262007 xref: UMLS_CUI:C0026847 is_a: DOID:231 ! motor neuron disease [Term] id: DOID:12378 name: obsolete predominant psychomotor disturbance is_obsolete: true [Term] id: DOID:12379 name: obsolete mixed disorder as reaction to stress is_obsolete: true [Term] id: DOID:1238 name: obsolete acute erythremia and erythroleukemia in remission is_obsolete: true [Term] id: DOID:12380 name: obsolete predominant disturbance of consciousness is_obsolete: true [Term] id: DOID:12382 name: complex partial epilepsy synonym: "Complex partial epileptic seizure" EXACT [] synonym: "epilepsy, psychomotor" EXACT [] synonym: "psychomotor epilepsy" EXACT [] xref: MESH:D017029 xref: SNOMEDCT_US_2023_03_01:307358009 xref: UMLS_CUI:C0085417 is_a: DOID:2234 ! focal epilepsy [Term] id: DOID:12384 name: dysentery def: "An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea, url:http\://en.wikipedia.org/wiki/Dysentery, url:http\://www.who.int/topics/dysentery/en/, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dysentery] synonym: "Infectious diarrhea" EXACT [] xref: ICD9CM:009.2 xref: MESH:D004403 xref: SNOMEDCT_US_2023_03_01:154268000 xref: UMLS_CUI:C0013369 is_a: DOID:100 ! intestinal infectious disease [Term] id: DOID:12385 name: shigellosis alt_id: DOID:11378 alt_id: DOID:12950 alt_id: DOID:2041 alt_id: DOID:924 alt_id: DOID:925 def: "A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces." [url:http\://www.merck.com/mmpe/sec14/ch173/ch173q.html?qt=shigellosis&alt=sh] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "bacillary dysentery" EXACT [] synonym: "Shigella boydii infectious disease" EXACT [] synonym: "Shigella flexneri infectious disease" EXACT [] synonym: "Shigella gastroenteritis" EXACT [] synonym: "Shigella sonnei infectious disease" EXACT [] xref: GARD:4818 xref: ICD10CM:A03 xref: ICD10CM:A03.0 xref: ICD10CM:A03.1 xref: ICD10CM:A03.2 xref: ICD9CM:004 xref: ICD9CM:004.0 xref: ICD9CM:004.1 xref: ICD9CM:004.2 xref: KEGG:05131 xref: MESH:D004405 xref: NCI:C157978 xref: SNOMEDCT_US_2023_03_01:111817006 xref: SNOMEDCT_US_2023_03_01:34335000 xref: SNOMEDCT_US_2023_03_01:55760004 xref: SNOMEDCT_US_2023_03_01:66301008 xref: UMLS_CUI:C0013371 xref: UMLS_CUI:C0302358 xref: UMLS_CUI:C0302359 xref: UMLS_CUI:C0302360 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:5353 ! colonic disease [Term] id: DOID:12386 name: balantidiasis def: "A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14760781] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:809 xref: ICD10CM:A07.0 xref: ICD9CM:007.0 xref: MESH:D001447 xref: NCI:C84583 xref: SNOMEDCT_US_2023_03_01:57725006 xref: UMLS_CUI:C0004692 is_a: DOID:2789 ! parasitic protozoa infectious disease property_value: exactMatch "MESH:D001447" xsd:string [Term] id: DOID:12387 name: nephrogenic diabetes insipidus def: "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH)." [url:http\://en.wikipedia.org/wiki/Nephrogenic_diabetes_insipidus, url:http\://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus, url:https\://medlineplus.gov/ency/article/000511.htm] comment: Xref MGI.\nOMIM mapping submitted by NeuroDevNet. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "vasopressin-resistant diabetes insipidus" RELATED [] xref: GARD:7178 xref: ICD10CM:N25.1 xref: ICD9CM:588.1 xref: MESH:D018500 xref: NCI:C84919 xref: ORDO:223 xref: SNOMEDCT_US_2023_03_01:123294004 xref: UMLS_CUI:C0162283 is_a: DOID:9409 ! diabetes insipidus [Term] id: DOID:12388 name: neurohypophyseal diabetes insipidus def: "A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13." [url:https\://pubmed.ncbi.nlm.nih.gov/15070970/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Pituitary diabetes insipidus" EXACT [] synonym: "vasopressin defective diabetes insipidus" EXACT [] synonym: "Vasopressin deficiency" EXACT [] xref: MESH:D020790 xref: MIM:125700 xref: NCI:C84933 xref: ORDO:30925 xref: SNOMEDCT_US_2023_03_01:267393007 xref: UMLS_CUI:C0687720 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081055 ! central diabetes insipidus [Term] id: DOID:1239 name: obsolete acute erythremia and erythroleukemia is_obsolete: true [Term] id: DOID:12392 name: obsolete leukemic reticuloendotheliosis involving lymph nodes of head, face and neck synonym: "Leukemic reticuloendotheliosis involving lymph nodes of head, face, and neck" EXACT [] synonym: "Leukemic reticuloendotheliosis of lymph nodes of head, face and neck (disorder)" EXACT [] synonym: "Leukemic reticuloendotheliosis of lymph nodes of head, face and/or neck (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12395 name: spastic entropion xref: ICD9CM:374.03 xref: SNOMEDCT_US_2023_03_01:20828000 xref: UMLS_CUI:C0155190 is_a: DOID:12397 ! entropion [Term] id: DOID:12396 name: obsolete entropion and trichiasis of eyelid synonym: "Entropion and trichiasis of eyelid (disorder)" EXACT [] synonym: "Entropion or trichiasis of eyelid NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12397 name: entropion alt_id: DOID:14446 xref: ICD9CM:374.00 xref: MESH:D004774 xref: SNOMEDCT_US_2023_03_01:246821008 xref: UMLS_CUI:C0014390 is_a: DOID:530 ! eyelid disease [Term] id: DOID:12399 name: pathological gambling def: "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004711/] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Compulsive gambling" EXACT [] xref: ICD10CM:F63.0 xref: ICD9CM:312.31 xref: MESH:D005715 xref: MIM:606349 xref: NCI:C94335 xref: SNOMEDCT_US_2023_03_01:18085000 xref: UMLS_CUI:C0030662 is_a: DOID:10937 ! impulse control disorder [Term] id: DOID:1240 name: leukemia alt_id: DOID:9145 def: "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells." [url:http\://en.wikipedia.org/wiki/Leukemia, url:http\://www.cancer.gov/dictionary?CdrID=45343] subset: DO_cancer_slim subset: DO_RAD_slim subset: NCIthesaurus xref: ICD10CM:C95.90 xref: ICD9CM:208 xref: ICDO:9800/3 xref: MESH:D007938 xref: NCI:C3161 xref: SNOMEDCT_US_2023_03_01:255049003 xref: UMLS_CUI:C0023418 is_a: DOID:2531 ! hematologic cancer [Term] id: DOID:12400 name: kleptomania def: "An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen." [url:https\://en.wikipedia.org/wiki/Kleptomania] subset: NCIthesaurus synonym: "Pathological stealing" EXACT [] xref: ICD10CM:F63.2 xref: ICD9CM:312.32 xref: MESH:D007174 xref: NCI:C94333 xref: SNOMEDCT_US_2023_03_01:69361009 xref: UMLS_CUI:C0022734 is_a: DOID:10937 ! impulse control disorder [Term] id: DOID:12401 name: intermittent explosive disorder alt_id: DOID:9404 def: "An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness." [url:https\://en.wikipedia.org/wiki/Intermittent_explosive_disorder] subset: NCIthesaurus synonym: "explosive personality disorder" EXACT [] xref: ICD10CM:F60.3 xref: ICD10CM:F63.81 xref: ICD9CM:301.3 xref: ICD9CM:312.34 xref: MESH:D007174 xref: NCI:C94332 xref: SNOMEDCT_US_2023_03_01:192096007 xref: SNOMEDCT_US_2023_03_01:268757006 xref: UMLS_CUI:C0021776 xref: UMLS_CUI:C0152183 is_a: DOID:10937 ! impulse control disorder [Term] id: DOID:12402 name: pyromania def: "An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive." [url:https\://en.wikipedia.org/wiki/Pyromania] subset: NCIthesaurus synonym: "firesetting behavior" EXACT [] synonym: "Pathological firesetting" EXACT [] xref: ICD10CM:F63.1 xref: ICD9CM:312.33 xref: MESH:D005391 xref: NCI:C94334 xref: SNOMEDCT_US_2023_03_01:600009 xref: UMLS_CUI:C0016142 is_a: DOID:10937 ! impulse control disorder [Term] id: DOID:12403 name: tinea pedis def: "A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=athlete%27s%20foot] subset: DO_infectious_disease_slim synonym: "Athlete's foot" EXACT [] synonym: "Dermatophytosis of foot" EXACT [] synonym: "ringworm of foot" RELATED [] xref: ICD10CM:B35.3 xref: ICD9CM:110.4 xref: MESH:D014008 xref: SNOMEDCT_US_2023_03_01:186993002 xref: UMLS_CUI:C0040259 is_a: DOID:37 ! skin disease is_a: DOID:8913 ! dermatophytosis [Term] id: DOID:12404 name: obsolete tinea def: "A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin." [url:http\://emedicine.medscape.com/article/787217-overview] synonym: "Dermatophytosis-tinea/ringworm" EXACT [] synonym: "Microsporic tinea, NOS" EXACT [] synonym: "ringworm" EXACT [] is_obsolete: true [Term] id: DOID:1241 name: luxation of globe synonym: "Luxation of eye" EXACT [] xref: ICD10CM:H44.82 xref: ICD9CM:360.81 xref: SNOMEDCT_US_2023_03_01:20842008 xref: UMLS_CUI:C0154806 is_a: DOID:1242 ! globe disease [Term] id: DOID:12417 name: obsolete psychogenic dysmenorrhea synonym: "Psychogenic dysmenorrhea" EXACT [] synonym: "Psychogenic dysmenorrhea (finding)" EXACT [] synonym: "Psychogenic dysmenorrhoea" EXACT [] is_obsolete: true [Term] id: DOID:1242 name: globe disease def: "An eye disease that involves the globe of the eye." [url:https\://en.wikipedia.org/wiki/Globe_(human_eye)] xref: ICD10CM:H44.39 xref: ICD9CM:360.29 xref: SNOMEDCT_US_2023_03_01:194638007 xref: UMLS_CUI:C0154780 is_a: DOID:5614 ! eye disease [Term] id: DOID:12424 name: thyrocalcitonin secretion disease synonym: "disorder of thyrocalcitonin secretion" EXACT [] xref: ICD9CM:246.0 xref: SNOMEDCT_US_2023_03_01:190303007 xref: UMLS_CUI:C0701822 is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:1243 name: labia minora cancer def: "A vulva cancer that is located_in the labium minora." [url:https\://www.ncbi.nlm.nih.gov/pubmed/13103721, url:https\://www.ncbi.nlm.nih.gov/pubmed/24113413] subset: NCIthesaurus synonym: "malignant neoplasm of labia minora" EXACT [] synonym: "malignant neoplasm of labium minus" EXACT [] synonym: "malignant tumor of Labia Minora" EXACT [] xref: ICD10CM:C51.1 xref: ICD9CM:184.2 xref: NCI:C7637 xref: SNOMEDCT_US_2023_03_01:93851005 xref: UMLS_CUI:C0496815 is_a: DOID:1245 ! vulva cancer is_a: DOID:4159 ! skin cancer [Term] id: DOID:12445 name: conjugate gaze palsy synonym: "Palsy of conjugate gaze" EXACT [] xref: ICD9CM:378.81 xref: SNOMEDCT_US_2023_03_01:1534008 xref: UMLS_CUI:C0702143 is_a: DOID:540 ! strabismus [Term] id: DOID:12448 name: obsolete hematologic pregnancy complication is_obsolete: true [Term] id: DOID:12449 name: aplastic anemia def: "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow." [url:http\://en.wikipedia.org/wiki/Aplastic_anemia, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/aplastic/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5836 xref: ICD10CM:D61.9 xref: ICD9CM:284.9 xref: MESH:D000741 xref: MIM:609135 xref: NCI:C2870 xref: SNOMEDCT_US_2023_03_01:154807001 xref: UMLS_CUI:C0002874 is_a: DOID:720 ! normocytic anemia [Term] id: DOID:1245 name: vulva cancer alt_id: DOID:1282 def: "A female reproductive organ cancer that is located_in the vulva." [url:https\://en.wikipedia.org/wiki/Vulvar_cancer] subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "Ca vulva" EXACT [] synonym: "malignant neoplasm of vulva" EXACT [] synonym: "malignant tumor of vulva" EXACT [] synonym: "malignant Vulvar tumor" EXACT [] synonym: "neoplasm of vulva" EXACT [] synonym: "vulval cancer" EXACT [] synonym: "vulval neoplasm" EXACT [] synonym: "vulvar neoplasm" EXACT [] synonym: "Vulvar tumor" EXACT [] xref: GARD:9349 xref: ICD10CM:C51 xref: ICD9CM:184.4 xref: MESH:D014846 xref: NCI:C3443 xref: NCI:C7502 xref: SNOMEDCT_US_2023_03_01:126922007 xref: SNOMEDCT_US_2023_03_01:94143002 xref: UMLS_CUI:C0042995 xref: UMLS_CUI:C0375071 is_a: DOID:120 ! female reproductive organ cancer is_a: DOID:2059 ! vulvar disease [Term] id: DOID:12450 name: pancytopenia def: "An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets." [url:https\://en.wikipedia.org/wiki/Pancytopenia] subset: NCIthesaurus xref: ICD10CM:D61.81 xref: ICD9CM:284.1 xref: MESH:D010198 xref: NCI:C34889 xref: SNOMEDCT_US_2023_03_01:127034005 xref: UMLS_CUI:C0030312 is_a: DOID:2355 ! anemia property_value: exactMatch "MESH:D010198" xsd:string [Term] id: DOID:12451 name: sulfhemoglobinemia xref: MESH:D013436 xref: SNOMEDCT_US_2023_03_01:32117000 xref: UMLS_CUI:C0038732 is_a: DOID:620 ! blood protein disease [Term] id: DOID:12465 name: secondary hyperparathyroidism of renal origin synonym: "hyperparathyroidism due to renal insufficiency" EXACT [] xref: ICD10CM:N25.81 xref: ICD9CM:588.81 xref: SNOMEDCT_US_2023_03_01:19034001 xref: UMLS_CUI:C0271847 is_a: DOID:12466 ! secondary hyperparathyroidism is_a: DOID:557 ! kidney disease [Term] id: DOID:12466 name: secondary hyperparathyroidism subset: NCIthesaurus xref: MESH:D006962 xref: NCI:C113335 xref: SNOMEDCT_US_2023_03_01:91478007 xref: UMLS_CUI:C0020503 is_a: DOID:13543 ! hyperparathyroidism [Term] id: DOID:1247 name: blood coagulation disease alt_id: DOID:13997 alt_id: DOID:2212 alt_id: DOID:9474 def: "A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding." [url:https\://www.cedars-sinai.edu/Patients/Health-Conditions/Coagulation-System-Disorders.aspx] subset: DO_RAD_slim subset: NCIthesaurus synonym: "coagulation protein disease" EXACT [] synonym: "inherited blood coagulation disease" NARROW [] synonym: "postpartum coagulation defect" EXACT [] synonym: "postpartum coagulation defect with delivery" EXACT [] xref: ICD10CM:D68.9 xref: ICD9CM:286 xref: MESH:D001778 xref: NCI:C2902 xref: SNOMEDCT_US_2023_03_01:64779008 xref: UMLS_CUI:C0005779 is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:12474 name: capillariasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species." [url:https\://en.wikipedia.org/wiki/Capillariasis] subset: DO_infectious_disease_slim synonym: "Capillaria infection" EXACT [] xref: ICD10CM:B81.1 xref: ICD9CM:127.5 xref: MESH:D017189 xref: SNOMEDCT_US_2023_03_01:52979002 xref: UMLS_CUI:C0006897 is_a: DOID:409 ! liver disease is_a: DOID:5295 ! intestinal disease is_a: DOID:850 ! lung disease is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:12475 name: pes anserinus tendinitis or bursitis xref: ICD9CM:726.61 xref: UMLS_CUI:C0158314 is_a: DOID:204 ! enthesopathy [Term] id: DOID:1248 name: ocular hyperemia synonym: "hyperEMIA eye" EXACT [] synonym: "hyperemia of conjunctiva" EXACT [] xref: SNOMEDCT_US_2023_03_01:359610006 xref: UMLS_CUI:C0155169 is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:1249 name: obsolete Conjunctival vascular disorder and cysts synonym: "Conjunctival vascular disorder and cysts (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12491 name: Vagus nerve disease subset: NCIthesaurus synonym: "disorder of pneumogastric [10th] nerve" EXACT [] synonym: "disorder of vagal nerve" EXACT [] synonym: "disorder of vagus nerve" EXACT [] synonym: "Vagus nerve disorder" EXACT [] xref: ICD10CM:G52.2 xref: ICD9CM:352.3 xref: MESH:D020421 xref: NCI:C27591 xref: SNOMEDCT_US_2023_03_01:73765005 xref: UMLS_CUI:C0152179 is_a: DOID:3418 ! glossopharyngeal nerve disease [Term] id: DOID:125 name: vagina leiomyoma def: "A vaginal benign neoplasm that is a benign tumor of smooth muscle cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25672089] subset: NCIthesaurus synonym: "leiomyoma of vagina" EXACT [] xref: NCI:C6373 xref: UMLS_CUI:C1336939 is_a: DOID:0060114 ! vaginal benign neoplasm is_a: DOID:127 ! leiomyoma [Term] id: DOID:12506 name: Bell's palsy def: "A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)." [url:http\://en.wikipedia.org/wiki/Bell%27s_palsy] subset: DO_rare_slim synonym: "Bell palsy" EXACT [] synonym: "Bell's (facial) palsy" EXACT [] xref: GARD:5906 xref: ICD10CM:G51.0 xref: ICD9CM:351.0 xref: MESH:D020330 xref: SNOMEDCT_US_2023_03_01:193093009 xref: UMLS_CUI:C0376175 is_a: DOID:13934 ! facial paralysis [Term] id: DOID:12508 name: obsolete simple type schizophrenia chronic state with acute exacerbation is_obsolete: true [Term] id: DOID:1251 name: tuberculous epididymitis def: "An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling." [url:http\://www.nature.com/aja/journal/v7/n3/abs/aja200560a.html] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease xref: ICD9CM:016.4 xref: SNOMEDCT_US_2023_03_01:83652003 xref: UMLS_CUI:C0152814 is_a: DOID:0080373 ! epididymis disease is_a: DOID:2149 ! urogenital tuberculosis [Term] id: DOID:12510 name: retinal ischemia def: "An ischemia that is characterized by restriction in blood supply to the retina." [url:http\://www.med.umich.edu/1libr/Ophthalmology/Retina/RetinalIschemia.pdf, url:https\://en.wikipedia.org/wiki/Ocular_ischemic_syndrome] xref: ICD10CM:H35.82 xref: ICD9CM:362.84 xref: SNOMEDCT_US_2023_03_01:193427006 xref: UMLS_CUI:C0162291 is_a: DOID:2462 ! retinal vascular disease is_a: DOID:326 ! ischemia [Term] id: DOID:12514 name: retinal perforation subset: NCIthesaurus synonym: "Retinal break" EXACT [] synonym: "Retinal dialysis" EXACT [] synonym: "Retinal tear" EXACT [] xref: MESH:D012167 xref: NCI:C50732 xref: SNOMEDCT_US_2023_03_01:40024006 xref: UMLS_CUI:C0035321 is_a: DOID:5327 ! retinal detachment [Term] id: DOID:1252 name: trichuriasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation." [url:http\://en.wikipedia.org/wiki/Trichuriasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichuriasis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Infection by Trichuris trichura" EXACT [] synonym: "Trichuriasis infection" EXACT [] synonym: "trichuris trichiura infection" EXACT [] synonym: "Whipworm disease" EXACT [] xref: GARD:10720 xref: MESH:D014257 xref: NCI:C128399 xref: SNOMEDCT_US_2023_03_01:60570001 xref: UMLS_CUI:C0040954 is_a: DOID:5295 ! intestinal disease is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:12522 name: bagassosis def: "An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes." [url:http\://www.merriam-webster.com/medical/bagassosis] subset: NCIthesaurus synonym: "sugar cane worker pneumonitis" EXACT [] xref: ICD10CM:J67.1 xref: ICD9CM:495.1 xref: MESH:D011009 xref: NCI:C34409 xref: SNOMEDCT_US_2023_03_01:67242002 xref: UMLS_CUI:C0004681 is_a: DOID:841 ! extrinsic allergic alveolitis [Term] id: DOID:12524 name: plantar nerve lesion synonym: "Lesion of plantar nerve" EXACT [] xref: ICD10CM:G57.6 xref: ICD9CM:355.6 xref: SNOMEDCT_US_2023_03_01:193148004 xref: UMLS_CUI:C0154752 is_a: DOID:9473 ! mononeuritis of lower limb [Term] id: DOID:12525 name: obsolete Lateral cutaneous femoral nerve of thigh compression or syndrome synonym: "Meralgia paraesthetica" EXACT [] synonym: "Meralgia paresthetica" EXACT [] synonym: "Meralgia paresthetica (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12526 name: tarsal tunnel syndrome subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7733 xref: ICD10CM:G57.5 xref: ICD9CM:355.5 xref: MESH:D013641 xref: NCI:C85183 xref: SNOMEDCT_US_2023_03_01:155077008 xref: UMLS_CUI:C0039319 is_a: DOID:1187 ! tibial neuropathy [Term] id: DOID:12527 name: common peroneal nerve lesion xref: ICD10CM:G57.3 xref: ICD9CM:355.3 xref: SNOMEDCT_US_2023_03_01:399107008 xref: UMLS_CUI:C0270909 is_a: DOID:9473 ! mononeuritis of lower limb [Term] id: DOID:12528 name: lesion of sciatic nerve xref: ICD10CM:G57.0 xref: ICD9CM:355.0 xref: MESH:D020426 xref: SNOMEDCT_US_2023_03_01:52585001 xref: UMLS_CUI:C0154748 is_a: DOID:9473 ! mononeuritis of lower limb [Term] id: DOID:12529 name: tibial nerve palsy xref: SNOMEDCT_US_2023_03_01:359842002 xref: UMLS_CUI:C0154751 is_a: DOID:9473 ! mononeuritis of lower limb [Term] id: DOID:1253 name: obsolete Enoplea infectious disease def: "A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands." [url:http\://en.wikipedia.org/wiki/Enoplia, url:http\://plpnemweb.ucdavis.edu/NEMAPLEX/Taxadata/Enoplia.htm] synonym: "enoplida infectious disease" EXACT [] is_obsolete: true [Term] id: DOID:12531 name: von Willebrand's disease def: "A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion." [url:http\://en.wikipedia.org/wiki/Von_Willebrand_disease, url:http\://ghr.nlm.nih.gov/condition/von-willebrand-disease] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "vascular hemophilia" EXACT [] synonym: "vascular pseudohemophilia" EXACT [] synonym: "von Willebrand disease" EXACT [] synonym: "von Willebrand disorder" EXACT [] synonym: "von Willebrand's-Jurgens' disease" EXACT [] synonym: "von Willebrand-Jrgens disease" EXACT [] xref: GARD:7867 xref: ICD10CM:D68.0 xref: ICD9CM:286.4 xref: MESH:D014842 xref: NCI:C68677 xref: SNOMEDCT_US_2023_03_01:11093006 xref: UMLS_CUI:C0042974 is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:12537 name: hypermobility of coccyx synonym: "Coccygeal hypermobility syndrome" EXACT [] synonym: "hypermobility of the coccyx" EXACT [] xref: ICD9CM:724.71 xref: SNOMEDCT_US_2023_03_01:202809009 xref: UMLS_CUI:C0158295 is_a: DOID:1123 ! spondyloarthropathy [Term] id: DOID:12538 name: obsolete Chlamydia trachomatis pharyngitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "venereal disease of pharynx due to Chlamydia trachomatis" EXACT [] is_obsolete: true [Term] id: DOID:12539 name: obsolete Chlamydia trachomatis proctitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Chlamydial infection of anus and rectum (disorder)" EXACT [] synonym: "Venereal disease of the anus and rectum due to Chlamydia trachomatis" EXACT [] is_obsolete: true [Term] id: DOID:1254 name: trichostrongylosis def: "A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Trichostrongylosis.htm] subset: DO_infectious_disease_slim synonym: "Infection by Trichostrongylus" EXACT [] synonym: "Infection by Trichostrongylus species" EXACT [] synonym: "Trichostrongyliasis" EXACT [] xref: ICD10CM:B81.2 xref: ICD9CM:127.6 xref: MESH:D014253 xref: SNOMEDCT_US_2023_03_01:33710003 xref: UMLS_CUI:C0040948 is_a: DOID:1255 ! trichostrongyloidiasis property_value: exactMatch "MESH:D014253" xsd:string [Term] id: DOID:12541 name: obsolete catatonic type schizophrenia subchronic state is_obsolete: true [Term] id: DOID:12542 name: obsolete catatonic type schizophrenia subchronic state with acute exacerbation is_obsolete: true [Term] id: DOID:12543 name: obsolete catatonic type schizophrenia chronic state with acute exacerbation is_obsolete: true [Term] id: DOID:12546 name: atrophic nonflaccid tympanic membrane xref: ICD10CM:H73.82 xref: ICD9CM:384.82 xref: SNOMEDCT_US_2023_03_01:194323000 xref: UMLS_CUI:C0155471 is_a: DOID:5782 ! tympanic membrane disease [Term] id: DOID:12549 name: hepatitis A alt_id: DOID:12547 def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." [url:http\://www.cdc.gov/hepatitis/HAV/index.htm, url:http\://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Viral hepatitis A" RELATED [] synonym: "Viral hepatitis, type A" EXACT [] xref: MESH:D006506 xref: NCI:C3096 xref: SNOMEDCT_US_2023_03_01:40468003 xref: UMLS_CUI:C0019159 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:1255 name: trichostrongyloidiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea." [url:http\://en.wikipedia.org/wiki/Strongylida] subset: DO_infectious_disease_slim xref: MESH:D014252 xref: UMLS_CUI:C0040947 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:12550 name: hepatic coma synonym: "Hepatocerebral intoxication" EXACT [] xref: ICD10CM:K72.91 xref: MESH:D006501 xref: SNOMEDCT_US_2023_03_01:197332007 xref: UMLS_CUI:C0019147 is_a: DOID:13413 ! hepatic encephalopathy [Term] id: DOID:12551 name: obsolete Escherichia coli septicemia subset: gram-negative_bacterial_infectious_disease synonym: "Septicemia due to E. Coli (disorder)" EXACT [] synonym: "Septicemia due to escherichia coli" EXACT [] synonym: "Septicemia due to escherichia coli [E. coli]" EXACT [] is_obsolete: true [Term] id: DOID:12554 name: hemolytic-uremic syndrome def: "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs." [url:https\://en.wikipedia.org/wiki/Hemolytic-uremic_syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1367/, url:https\://www.ncbi.nlm.nih.gov/pubmed/15728781] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "haemolytic-uraemic syndrome" EXACT [] synonym: "hemolytic uremic syndrome" EXACT [] xref: GARD:6588 xref: ICD10CM:D59.3 xref: ICD9CM:283.11 xref: MESH:D006463 xref: NCI:C75545 xref: ORDO:2134 xref: SNOMEDCT_US_2023_03_01:123308008 xref: UMLS_CUI:C0019061 is_a: DOID:557 ! kidney disease [Term] id: DOID:12555 name: obsolete acute renal failure with lesion of renal cortical necrosis is_obsolete: true [Term] id: DOID:12556 name: acute kidney tubular necrosis def: "An acute kidney failure that is characterized by necrosis of epithelial tubule cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904420/] subset: NCIthesaurus synonym: "acute renal failure with lesion of tubular necrosis" EXACT [] synonym: "acute renal Failure with tubular necrosis" EXACT [] synonym: "acute tubular necrosis" EXACT [] synonym: "acute tubule necrosis" EXACT [] synonym: "ATN - acute tubular necrosis" EXACT [] xref: ICD10CM:N17.0 xref: MESH:D007683 xref: NCI:C34749 xref: SNOMEDCT_US_2023_03_01:23697004 xref: UMLS_CUI:C0022672 is_a: DOID:3021 ! acute kidney failure [Term] id: DOID:12557 name: Duane retraction syndrome comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Duane's syndrome" EXACT [] synonym: "Stilling-Turk-Duane syndrome" EXACT [] xref: ICD10CM:H50.81 xref: ICD9CM:378.71 xref: MESH:D004370 xref: MIM:126800 xref: MIM:604356 xref: NCI:C84678 xref: ORDO:233 xref: SNOMEDCT_US_2023_03_01:60318001 xref: UMLS_CUI:C0013261 is_a: DOID:540 ! strabismus [Term] id: DOID:12558 name: chronic progressive external ophthalmoplegia subset: DO_rare_slim synonym: "progressive external ophthalmoplegia" EXACT [] xref: GARD:4503 xref: ICD10CM:H49.4 xref: ICD9CM:378.72 xref: MESH:D017246 xref: MIM:PS157640 xref: SNOMEDCT_US_2023_03_01:194126004 xref: UMLS_CUI:C0162674 is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:12559 name: idiopathic juvenile osteoporosis def: "An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis." [url:http\://www.niams.nih.gov/Health_Info/Bone/Bone_Health/Juvenile/juvenile_osteoporosis.asp#b, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=85193] synonym: "Idiopathic osteoporosis" EXACT [] synonym: "juvenile osteoporosis" EXACT [] xref: ICD9CM:733.02 xref: MIM:259750 xref: SNOMEDCT_US_2023_03_01:3345002 xref: UMLS_CUI:C0158447 is_a: DOID:11476 ! osteoporosis [Term] id: DOID:12566 name: ulceration of vulva def: "A vulvar disease that is characterized by the presence of ulcers." [url:https\://www.dermnetnz.org/topics/differential-diagnosis-of-vulval-ulcers/] xref: ICD10CM:N77.0 xref: ICD9CM:616.51 xref: SNOMEDCT_US_2023_03_01:198230004 xref: UMLS_CUI:C0156340 is_a: DOID:2059 ! vulvar disease [Term] id: DOID:12568 name: dyscalculia def: "A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page." [url:http\://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities] synonym: "disorder of arithmetical skills" EXACT [] synonym: "Mathematics disorder" EXACT [] xref: MESH:D060705 is_a: DOID:8927 ! learning disability [Term] id: DOID:12569 name: obsolete Chagas cardiomyopathy alt_id: DOID:0050017 alt_id: DOID:0050018 def: "A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death." [url:http\://en.wikipedia.org/wiki/Chagas_disease] subset: zoonotic_infectious_disease synonym: "acute chagas' disease with heart involvement" EXACT [] synonym: "Cardiovascular Trypanosomiasis" EXACT [] synonym: "Chagas' cardiomyopathy" EXACT [] synonym: "Chagas' disease cardiomyopathy" EXACT [] synonym: "Chagas' disease with heart involvement" EXACT [] synonym: "Chagas' disease with heart involvement (disorder)" EXACT [] synonym: "chronic chagas' disease with heart involvement" EXACT [] is_obsolete: true [Term] id: DOID:1257 name: obsolete Transient hypertension of pregnancy alt_id: DOID:1256 alt_id: DOID:12946 alt_id: DOID:2259 synonym: "antepartum transient hypertension of pregnancy" EXACT [] synonym: "postpartum transient hypertension of pregnancy" EXACT [] synonym: "Transient hypertension of pregnancy, with delivery" EXACT [] is_obsolete: true [Term] id: DOID:12570 name: phacolytic glaucoma def: "A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. Phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins." [url:https\://pubmed.ncbi.nlm.nih.gov/30950286/] xref: ICD9CM:365.51 xref: SNOMEDCT_US_2023_03_01:32893002 xref: UMLS_CUI:C0152137 is_a: DOID:12571 ! phacogenic glaucoma [Term] id: DOID:12571 name: phacogenic glaucoma def: "A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss." [url:https\://eyewiki.aao.org/Lens_Induced_Glaucomas] xref: ICD9CM:365.59 xref: SNOMEDCT_US_2023_03_01:84333006 xref: UMLS_CUI:C0154959 is_a: DOID:1686 ! glaucoma [Term] id: DOID:12573 name: neonatal thyrotoxicosis subset: NCIthesaurus xref: ICD10CM:P72.1 xref: ICD9CM:775.3 xref: NCI:C114906 xref: SNOMEDCT_US_2023_03_01:13795004 xref: UMLS_CUI:C0158983 is_a: DOID:7997 ! thyrotoxicosis [Term] id: DOID:12574 name: posterior uveitis subset: DO_rare_slim subset: NCIthesaurus synonym: "Uveitis, posterior" EXACT [] xref: GARD:4457 xref: MESH:D015866 xref: NCI:C35111 xref: SNOMEDCT_US_2023_03_01:46627006 xref: UMLS_CUI:C0042167 is_a: DOID:12030 ! panuveitis [Term] id: DOID:12577 name: urethral obstruction subset: NCIthesaurus synonym: "Obstruction of urethra" EXACT [] xref: MESH:D014524 xref: NCI:C79804 xref: SNOMEDCT_US_2023_03_01:95588004 xref: UMLS_CUI:C0041972 is_a: DOID:732 ! urethral disease [Term] id: DOID:12580 name: Cri-Du-Chat syndrome def: "A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat." [url:https\://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome, url:https\://www.genome.gov/Genetic-Disorders/Cri-du-Chat] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "5p deletion syndrome" EXACT [] synonym: "5p partial monosomy syndrome" EXACT [] synonym: "chromosome 5 short arm deletion syndrome" EXACT [] synonym: "chromosome 5p deletion syndrome" EXACT [] xref: GARD:6213 xref: ICD10CM:Q93.4 xref: ICD9CM:758.31 xref: MESH:D003410 xref: MIM:123450 xref: NCI:C34518 xref: SNOMEDCT_US_2023_03_01:70173007 xref: UMLS_CUI:C0010314 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:12581 name: olecranon bursitis synonym: "Bursitis of elbow" EXACT [] synonym: "Bursitis of elbow region" EXACT [] synonym: "Capped elbow" EXACT [] synonym: "Elbow bursitis" EXACT [] synonym: "Miner's elbow" EXACT [] synonym: "Miners' elbow" EXACT [] synonym: "Shoe boil" EXACT [] xref: ICD10CM:M70.2 xref: ICD9CM:726.33 xref: SNOMEDCT_US_2023_03_01:425940002 xref: UMLS_CUI:C0263962 is_a: DOID:204 ! enthesopathy is_a: DOID:2965 ! bursitis [Term] id: DOID:12582 name: obsolete enthesopathy of elbow is_obsolete: true [Term] id: DOID:12583 name: velocardiofacial syndrome def: "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations." [url:https\://www.genome.gov/Genetic-Disorders/Velocardiofacial-Syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/19243607] comment: OMIM mapping confirmed by DO. [LS]. synonym: "Shprintzen syndrome" EXACT [] synonym: "VCF-Velocardiofacial syndrome" EXACT [] xref: ICD10CM:Q93.81 xref: ICD9CM:758.32 xref: MESH:D004062 xref: MIM:192430 xref: SNOMEDCT_US_2023_03_01:205642004 xref: UMLS_CUI:C0220704 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:12584 name: obsolete Diabetes mellitus of mother, with delivery synonym: "Diabetes mellitus during pregnancy - baby delivered (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12594 name: Potter's syndrome def: "A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus." [url:http\://en.wikipedia.org/wiki/Potter_Syndrome, url:https\://en.wikipedia.org/wiki/Potter_sequence, url:https\://rarediseases.info.nih.gov/diseases/4462/potter-syndrome] subset: DO_rare_slim subset: NCIthesaurus synonym: "Potter sequence" EXACT [] synonym: "Potter syndrome" EXACT [] xref: GARD:4462 xref: ICD10CM:Q60.6 xref: NCI:C40435 xref: SNOMEDCT_US_2023_03_01:41962002 xref: UMLS_CUI:C0178426 is_a: DOID:14766 ! renal agenesis [Term] id: DOID:1260 name: parametritis subset: DO_infectious_disease_slim synonym: "pelvic cellulitis" EXACT [] xref: MESH:D010249 xref: SNOMEDCT_US_2023_03_01:280483007 xref: UMLS_CUI:C0030455 is_a: DOID:1003 ! pelvic inflammatory disease [Term] id: DOID:12603 name: acute leukemia alt_id: DOID:12621 def: "A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream." [url:http\://en.wikipedia.org/wiki/Acute_leukemia, url:http\://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf, url:http\://www.merck.com/mmpe/sec11/ch142/ch142b.html] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Stem cell leukaemia" EXACT [] synonym: "Stem cell Leukemia" EXACT [] xref: ICD10CM:C95.00 xref: ICD9CM:208.0 xref: ICDO:9801/3 xref: MIM:308960 xref: NCI:C9300 xref: SNOMEDCT_US_2023_03_01:24072005 xref: UMLS_CUI:C0085669 xref: UMLS_CUI:C1378511 is_a: DOID:1037 ! lymphoid leukemia [Term] id: DOID:12604 name: obsolete secondary malignant neoplasm of suprarenal gland synonym: "secondary malignant neoplasm of adrenal gland" EXACT [] synonym: "secondary malignant neoplasm of adrenal gland (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12605 name: obsolete metastasis to adrenals synonym: "metastatic tumor to the Adrenals" EXACT [] is_obsolete: true [Term] id: DOID:12608 name: obsolete staphylococcal pneumonia alt_id: DOID:12607 def: "A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/13542104] subset: gram-positive_bacterial_infectious_disease synonym: "pneumonia due to staphylococcus aureus" EXACT [] synonym: "Staphylococcus aureus pneumonia" EXACT [] is_obsolete: true [Term] id: DOID:1261 name: obsolete AIDS-related pelvic inflammatory disease is_obsolete: true [Term] id: DOID:12610 name: obsolete adrenal hemorrhage of fetus or newborn is_obsolete: true [Term] id: DOID:12612 name: obsolete gastrointestinal hemorrhage of fetus or newborn is_obsolete: true [Term] id: DOID:12633 name: obsolete cervicofacial actinomycosis def: "An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene." [url:http\://emedicine.medscape.com/article/211587-overview, url:http\://www.scipub.org/fulltext/ajid/ajid43204-208.pdf] subset: gram-positive_bacterial_infectious_disease synonym: "Cervicofacial actinomycotic infection" EXACT [] synonym: "Lumpy jaw" EXACT [] is_obsolete: true [Term] id: DOID:12634 name: obsolete cerebral actinomycosis def: "An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess." [] is_obsolete: true [Term] id: DOID:12637 name: perineocele def: "A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16442600] xref: ICD10CM:N81.81 xref: ICD9CM:618.05 xref: UMLS_CUI:C1456251 is_a: DOID:1284 ! prolapse of female genital organ [Term] id: DOID:12638 name: hypertrophic pyloric stenosis def: "A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting." [url:http\://en.wikipedia.org/wiki/Pyloric_stenosis] comment: Xref MGI. subset: NCIthesaurus synonym: "congenital hypertrophic pyloric stenosis" EXACT [] synonym: "congenital or infantile stricture of pylorus" EXACT [] xref: ICD10CM:Q40.0 xref: ICD9CM:750.5 xref: MESH:D046248 xref: MIM:179010 xref: MIM:300711 xref: MIM:610260 xref: MIM:612017 xref: MIM:612525 xref: NCI:C98952 xref: SNOMEDCT_US_2023_03_01:48644003 xref: UMLS_CUI:C0700639 is_a: DOID:12639 ! pyloric stenosis [Term] id: DOID:12639 name: pyloric stenosis subset: NCIthesaurus xref: ICD10CM:K31.1 xref: MESH:D011707 xref: NCI:C34966 xref: SNOMEDCT_US_2023_03_01:367403001 xref: UMLS_CUI:C0034194 is_a: DOID:3122 ! gastric outlet obstruction [Term] id: DOID:12641 name: displacement of cardia through esophageal hiatus synonym: "Congenital hiatus hernia" EXACT [] xref: ICD10CM:Q40.1 xref: ICD9CM:750.6 xref: SNOMEDCT_US_2023_03_01:47028006 xref: UMLS_CUI:C0158674 is_a: DOID:12642 ! hiatus hernia [Term] id: DOID:12642 name: hiatus hernia comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Diaphragmatic - hiatus -hernia" EXACT [] synonym: "hiatal hernia" EXACT [] xref: ICD10CM:K44 xref: MESH:D006551 xref: MIM:142400 xref: NCI:C98945 xref: SNOMEDCT_US_2023_03_01:236053002 xref: SNOMEDCT_US_2023_03_01:3662000 xref: SNOMEDCT_US_2023_03_01:84089009 xref: UMLS_CUI:C0267725 xref: UMLS_CUI:C0376710 xref: UMLS_CUI:C3489393 is_a: DOID:76 ! stomach disease [Term] id: DOID:12647 name: obsolete Congenital or acquired abnormality of vulva, with delivery is_obsolete: true [Term] id: DOID:1265 name: obsolete genitourinary cancer def: "An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs." [url:http\://en.wikipedia.org/wiki/Genitourinary_system, url:http\://en.wikipedia.org/wiki/Urogenital_neoplasm] is_obsolete: true [Term] id: DOID:12651 name: obsolete disorder of optic chiasm associated with inflammatory disorder is_obsolete: true [Term] id: DOID:12657 name: vestibulocochlear nerve disease subset: NCIthesaurus synonym: "acoustic nerve disease" EXACT [] xref: ICD10CM:H93.3 xref: ICD9CM:388.5 xref: MESH:D000160 xref: NCI:C27207 xref: SNOMEDCT_US_2023_03_01:77949003 xref: UMLS_CUI:C0001163 is_a: DOID:2889 ! retrocochlear disease is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:12661 name: tooth ankylosis comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim synonym: "Ankylosis of teeth" EXACT [] synonym: "Ankylosis of tooth" EXACT [] xref: GARD:701 xref: ICD10CM:K03.5 xref: ICD9CM:521.6 xref: MESH:D020254 xref: MIM:157950 xref: SNOMEDCT_US_2023_03_01:14901003 xref: UMLS_CUI:C0155930 is_a: DOID:214 ! teeth hard tissue disease is_a: DOID:227 ! ankylosis [Term] id: DOID:12662 name: paracoccidioidomycosis def: "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis." [url:http\://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Mucocutaneous-lymphangitic paracoccidioidomycosis" EXACT [] synonym: "paracoccidioidal mycosis" EXACT [] xref: GARD:7323 xref: ICD10CM:B41 xref: ICD9CM:116.1 xref: MESH:D010229 xref: NCI:C34891 xref: SNOMEDCT_US_2023_03_01:59925007 xref: UMLS_CUI:C0030409 is_a: DOID:0050292 ! primary systemic mycosis [Term] id: DOID:12663 name: blastomycosis alt_id: DOID:13067 def: "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening." [url:http\://en.wikipedia.org/wiki/Blastomycosis] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Blastomyces Dermatitidis Infection" EXACT [] synonym: "Blastomycotic infection" EXACT [] synonym: "Chicago disease" EXACT [] synonym: "Gilchrist's disease" EXACT [] synonym: "Infection by Blastomyces dermatitidis" EXACT [] synonym: "North American blastomycosis" EXACT [] xref: GARD:5931 xref: ICD10CM:B40 xref: ICD9CM:116.0 xref: MESH:D001759 xref: NCI:C34428 xref: SNOMEDCT_US_2023_03_01:266217003 xref: UMLS_CUI:C0005716 is_a: DOID:0050292 ! primary systemic mycosis [Term] id: DOID:12667 name: binocular vision disease alt_id: DOID:12671 subset: NCIthesaurus synonym: "simultaneous visual perception without fusion" EXACT [] xref: ICD10CM:H53.30 xref: ICD9CM:368.30 xref: NCI:C34422 xref: SNOMEDCT_US_2023_03_01:83275001 xref: UMLS_CUI:C0005461 is_a: DOID:540 ! strabismus [Term] id: DOID:12668 name: abnormal retinal correspondence xref: ICD10CM:H53.31 xref: ICD9CM:368.34 xref: SNOMEDCT_US_2023_03_01:79195003 xref: UMLS_CUI:C0155010 is_a: DOID:12667 ! binocular vision disease [Term] id: DOID:12670 name: obsolete fusion with defective stereopsis synonym: "Fusion with defective stereopsis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12678 name: hypercalcemia xref: ICD10CM:E83.52 xref: ICD9CM:275.42 xref: MESH:D006934 xref: SNOMEDCT_US_2023_03_01:154752005 xref: UMLS_CUI:C0020437 is_a: DOID:10575 ! calcium metabolism disease [Term] id: DOID:12679 name: nephrocalcinosis subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7177 xref: MESH:D009397 xref: NCI:C84918 xref: SNOMEDCT_US_2023_03_01:154752005 xref: UMLS_CUI:C0027709 is_a: DOID:557 ! kidney disease [Term] id: DOID:12680 name: pseudobulbar palsy def: "A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts." [url:https\://en.wikipedia.org/wiki/Corticobulbar_tract, url:https\://en.wikipedia.org/wiki/Pseudobulbar_palsy] subset: NCIthesaurus synonym: "pseudobulbar paralysis" EXACT [] xref: ICD9CM:335.23 xref: MESH:D020828 xref: NCI:C129934 xref: SNOMEDCT_US_2023_03_01:7379000 xref: UMLS_CUI:C0033790 is_a: DOID:936 ! brain disease [Term] id: DOID:12683 name: vestibular neuronitis def: "A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent." [url:http\://en.wikipedia.org/wiki/Vestibular_neuritis, url:https\://www.ncbi.nlm.nih.gov/pubmed/16448876] subset: DO_infectious_disease_slim synonym: "Epidemic neurolabyrinthitis" EXACT [] synonym: "Vestibular neuritis" EXACT [] xref: ICD10CM:H81.2 xref: ICD9CM:386.12 xref: MESH:D020338 xref: SNOMEDCT_US_2023_03_01:232293008 xref: UMLS_CUI:C0751908 is_a: DOID:12657 ! vestibulocochlear nerve disease is_a: DOID:4953 ! poliomyelitis [Term] id: DOID:12685 name: mixed receptive-expressive language disorder def: "A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe." [url:http\://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder] subset: NCIthesaurus xref: ICD10CM:F80.2 xref: ICD9CM:315.32 xref: NCI:C92563 xref: SNOMEDCT_US_2023_03_01:25766007 xref: UMLS_CUI:C0236827 is_a: DOID:2033 ! communication disorder [Term] id: DOID:12689 name: acoustic neuroma subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Vestibular Neurilemmoma" EXACT [] synonym: "Vestibular schwannoma" EXACT [] xref: GARD:223 xref: MESH:D009464 xref: NCI:C3276 xref: SNOMEDCT_US_2023_03_01:269643009 xref: UMLS_CUI:C0027859 is_a: DOID:3192 ! neurilemmoma [Term] id: DOID:1269 name: obsolete thyroid gland tuberculosis subset: gram-positive_bacterial_infectious_disease synonym: "tuberculosis of thyroid gland" EXACT [] is_obsolete: true [Term] id: DOID:12694 name: obsolete hyperemesis gravidarum with metabolic disturbance alt_id: DOID:12695 alt_id: DOID:12696 synonym: "hyperemesis gravidarum with metabolic disturbance - delivered (disorder)" EXACT [] synonym: "hyperemesis gravidarum with metabolic disturbance, antepartum" EXACT [] synonym: "hyperemesis gravidarum with metabolic disturbance, delivered" EXACT [] is_obsolete: true [Term] id: DOID:12697 name: locked-in syndrome def: "A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes." [url:http\://rarediseases.org/rare-diseases/locked-in-syndrome/] subset: DO_rare_slim synonym: "Locked in syndrome" EXACT [] synonym: "Locked-in state" EXACT [] xref: GARD:6919 xref: ICD10CM:G83.5 xref: ICD9CM:344.81 xref: MESH:D000080422 xref: SNOMEDCT_US_2023_03_01:38023001 xref: UMLS_CUI:C0023944 is_a: DOID:863 ! nervous system disease [Term] id: DOID:12698 name: gynecomastia def: "A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels." [url:https\://my.clevelandclinic.org/health/diseases/16227-enlarged-male-breast-tissue-gynecomastia, url:https\://www.mayoclinic.org/diseases-conditions/gynecomastia/symptoms-causes/syc-20351793] subset: NCIthesaurus xref: ICD10CM:N62 xref: MESH:D006177 xref: NCI:C3073 xref: SNOMEDCT_US_2023_03_01:155963008 xref: UMLS_CUI:C0018418 is_a: DOID:1923 ! disorder of sexual development [Term] id: DOID:127 name: leiomyoma def: "A cell type benign neoplasm that is a benign tumor of smooth muscle cells." [url:http\://en.wikipedia.org/wiki/Cancer, url:http\://en.wikipedia.org/wiki/Leiomyoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "leiomyomatous neoplasm" EXACT [] synonym: "leiomyomatous tumor" EXACT [] xref: ICDO:8890/0 xref: MESH:D007889 xref: NCI:C3157 xref: SNOMEDCT_US_2023_03_01:1162890002 xref: UMLS_CUI:C0023267 is_a: DOID:0060084 ! cell type benign neoplasm [Term] id: DOID:1270 name: hereditary hemorrhagic telangiectasia def: "A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins." [url:http\://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia, url:http\://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1351/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Osler hemorrhagic telangiectasia syndrome" EXACT [] synonym: "Osler-Weber-Rendu disease" EXACT [] synonym: "Rendu-Osler-Weber disease" EXACT [] xref: GARD:6626 xref: ICD10CM:I78.0 xref: ICD9CM:448.0 xref: MESH:D013683 xref: MIM:187300 xref: MIM:600376 xref: MIM:601101 xref: MIM:615506 xref: NCI:C35064 xref: ORDO:774 xref: SNOMEDCT_US_2023_03_01:266324004 xref: UMLS_CUI:C0039445 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:178 ! vascular disease [Term] id: DOID:12700 name: hyperprolactinemia alt_id: DOID:12699 def: "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood." [url:http\://en.wikipedia.org/wiki/Hyperprolactinemia] synonym: "Chiari-Frommel syndrome" EXACT [] synonym: "hyperprolactinaemia" EXACT [] synonym: "Pregnancy-related A-G syndrome" EXACT [] xref: ICD10CM:E22.1 xref: MESH:D002640 xref: MESH:D006966 xref: SNOMEDCT_US_2023_03_01:190468001 xref: SNOMEDCT_US_2023_03_01:85039006 xref: UMLS_CUI:C0008043 xref: UMLS_CUI:C0020514 is_a: DOID:0060158 ! acquired metabolic disease [Term] id: DOID:12702 name: obsolete Rotator cuff shoulder syndrome and allied disorder is_obsolete: true [Term] id: DOID:12704 name: ataxia telangiectasia def: "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22." [url:https\://ghr.nlm.nih.gov/condition/ataxia-telangiectasia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Boder-Sedgwick syndrome" EXACT [] synonym: "Louis Bar syndrome" EXACT [] xref: GARD:5862 xref: MESH:D001260 xref: MIM:208900 xref: NCI:C2887 xref: SNOMEDCT_US_2023_03_01:68504005 xref: UMLS_CUI:C0004135 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia property_value: exactMatch "MESH:D001260" xsd:string [Term] id: DOID:12705 name: Friedreich ataxia alt_id: DOID:0050555 comment: Xref MGI. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Friedreich's ataxia" EXACT [] synonym: "Friedreich's tabes" EXACT [] xref: GARD:6468 xref: ICD10CM:G11.11 xref: ICD9CM:334.0 xref: MESH:D005621 xref: NCI:C84718 xref: SNOMEDCT_US_2023_03_01:155011003 xref: UMLS_CUI:C0016719 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia property_value: exactMatch "MESH:D005621" xsd:string [Term] id: DOID:12707 name: myoclonic cerebellar dyssynergia comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Dyssynergia cerebellaris myoclonica" EXACT [] synonym: "progressive cerebellar tremor" EXACT [] xref: GARD:9256 xref: MESH:D002527 xref: MIM:213400 xref: SNOMEDCT_US_2023_03_01:41009006 xref: UMLS_CUI:C0007761 is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:1271 name: capillary disease def: "A vascular disease that is located_in the capillaries." [url:http\://en.wikipedia.org/wiki/Capillary#Pathophysiology] synonym: "disease of capillaries" EXACT [] xref: ICD10CM:I78 xref: ICD9CM:448 xref: SNOMEDCT_US_2023_03_01:58729003 xref: UMLS_CUI:C0155765 is_a: DOID:178 ! vascular disease [Term] id: DOID:12710 name: obsolete Histoplasma duboisii pneumonia def: "An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain." [url:http\://www.doctorfungus.org/Mycoses/human/histo/histoplamosis_d.htm, url:http\://www.jstor.org/stable/pdfplus/4547765.pdf, url:http\://www.springerlink.com/content/dl7677h135470438/fulltext.pdf] synonym: "pulmonary African histoplasmosis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12711 name: black piedra def: "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair." [url:http\://en.wikipedia.org/wiki/Black_piedra, url:http\://mycology.adelaide.edu.au/Mycoses/Superficial/Black_piedra/] comment: Adding additional UMLS CUI.\nUMLS has piedra, black piedra and white piedra combined.\nDO has these as distinct diseases. subset: DO_infectious_disease_slim xref: ICD10CM:B36.3 xref: ICD9CM:111.3 xref: MESH:D010854 xref: SNOMEDCT_US_2023_03_01:266218008 xref: SNOMEDCT_US_2023_03_01:33666009 xref: UMLS_CUI:C0031898 xref: UMLS_CUI:C0153249 is_a: DOID:0050133 ! superficial mycosis [Term] id: DOID:12712 name: nephronophthisis def: "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy)." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "medullary cystic disease" EXACT [] synonym: "medullary cystic kidney" EXACT [] xref: GARD:206 xref: ICD10CM:Q61.5 xref: MIM:PS256100 xref: NCI:C123200 xref: ORDO:655 xref: SNOMEDCT_US_2023_03_01:204958008 xref: UMLS_CUI:C0687120 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:557 ! kidney disease [Term] id: DOID:12713 name: obsolete medullary sponge kidney synonym: "Medullary Sponge kidney" EXACT [] synonym: "Medullary sponge kidney (disorder)" EXACT [] synonym: "Sponge kidney" EXACT [] is_obsolete: true [Term] id: DOID:12714 name: Ellis-Van Creveld syndrome def: "A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2." [url:https\://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/10700184] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Chondroectodermal dysplasia" EXACT [] synonym: "mesoectodermal dysplasia" EXACT [] xref: GARD:1301 xref: ICD10CM:Q77.6 xref: ICD9CM:756.55 xref: MESH:D004613 xref: MIM:225500 xref: NCI:C84684 xref: SNOMEDCT_US_2023_03_01:62501005 xref: UMLS_CUI:C0013903 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:12715 name: obsolete infectious myositis synonym: "Infective Myositis" EXACT [] synonym: "Infective myositis" EXACT [] synonym: "Infective myositis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12716 name: newborn respiratory distress syndrome alt_id: DOID:11395 alt_id: DOID:13859 def: "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory+distress+syndrome] synonym: "HMD - Hyaline membrane disease" EXACT [] synonym: "hyaline membrane disease" EXACT [] synonym: "Neonatal respiratory Distress syndrome" EXACT [] synonym: "pulmonary hyaline membrane disease" EXACT [] synonym: "pulmonary hypoperfusion syndrome of newborn" EXACT [] synonym: "respiratory distress syndrome of newborn" EXACT [] xref: ICD10CM:P22.0 xref: MESH:D006819 xref: MIM:267450 xref: SNOMEDCT_US_2023_03_01:26168007 xref: UMLS_CUI:C0020192 is_a: DOID:11162 ! respiratory failure [Term] id: DOID:12718 name: chronic gonococcal salpingitis def: "A chronic salpingitis that is caused by gonorrhea." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14846362] synonym: "Gonococcal salpingitis" EXACT [] xref: ICD9CM:098.37 xref: SNOMEDCT_US_2023_03_01:53529004 xref: UMLS_CUI:C0153208 is_a: DOID:5731 ! chronic salpingitis [Term] id: DOID:1272 name: telangiectasis subset: NCIthesaurus synonym: "telangiectasia" EXACT [] xref: MESH:D013684 xref: NCI:C28194 xref: SNOMEDCT_US_2023_03_01:112641009 xref: UMLS_CUI:C0039446 is_a: DOID:341 ! peripheral vascular disease [Term] id: DOID:12720 name: cerebral atherosclerosis subset: NCIthesaurus xref: ICD10CM:I67.2 xref: ICD9CM:437.0 xref: MESH:D002537 xref: NCI:C34459 xref: SNOMEDCT_US_2023_03_01:266258005 xref: UMLS_CUI:C0007775 is_a: DOID:1936 ! atherosclerosis [Term] id: DOID:12721 name: multiple epiphyseal dysplasia def: "An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain." [url:http\://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia, url:http\://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia] comment: Xref MGI. subset: DO_rare_slim synonym: "polyepiphyseal dysplasia" EXACT [] xref: GARD:10756 xref: ICD9CM:756.56 xref: MESH:D010009 xref: ORDO:251 xref: SNOMEDCT_US_2023_03_01:59708000 xref: UMLS_CUI:C0026760 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:12722 name: obsolete liver metastasis synonym: "malignant neoplasm of liver, specified as secondary" EXACT [] synonym: "metastasis to liver" EXACT [] synonym: "metastatic tumor to the Liver" EXACT [] synonym: "secondary malignant neoplasm of liver (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12723 name: obsolete lung carcinoma metastatic to the liver is_obsolete: true [Term] id: DOID:12724 name: obsolete breast arcinoma metastatic to the liver is_obsolete: true [Term] id: DOID:12727 name: obsolete retroverted incarcerated gravid uterus alt_id: DOID:12728 alt_id: DOID:12729 alt_id: DOID:12730 synonym: "antepartum retroverted and incarcerated gravid uterus" EXACT [] synonym: "postpartum retroverted and incarcerated gravid uterus" EXACT [] synonym: "Retroverted and incarcerated gravid uterus, delivered" EXACT [] synonym: "Retroverted incarcerated gravid uterus - delivered" EXACT [] synonym: "Retroverted incarcerated gravid uterus - delivered (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1273 name: respiratory syncytial virus infectious disease def: "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress." [url:http\://www.merck.com/mmhe/sec23/ch273/ch273i.html?qt=respiratory%20syncytial%20virus&alt=sh#sec23-ch273-ch273i-982g] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "respiratory syncytial virus" EXACT [] synonym: "RSV" EXACT OMO:0003012 [] xref: MESH:D018357 xref: NCI:C3354 xref: SNOMEDCT_US_2023_03_01:186750007 xref: UMLS_CUI:C0035235 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:12731 name: pars planitis comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Posterior cyclitis" EXACT [] xref: GARD:7339 xref: ICD10CM:H30.2 xref: ICD9CM:363.21 xref: MESH:D015868 xref: MIM:606177 xref: NCI:C34903 xref: SNOMEDCT_US_2023_03_01:193452008 xref: UMLS_CUI:C0030593 is_a: DOID:8886 ! chorioretinitis [Term] id: DOID:12732 name: intermediate uveitis subset: NCIthesaurus synonym: "chronic cyclitis" EXACT [] synonym: "peripheral uveoretinitis" EXACT [] xref: MESH:D015867 xref: NCI:C35110 xref: SNOMEDCT_US_2023_03_01:314429009 xref: UMLS_CUI:C0042166 is_a: DOID:13141 ! uveitis [Term] id: DOID:12733 name: hypercementosis synonym: "Cementation hyperplasia" EXACT [] xref: ICD10CM:K03.4 xref: ICD9CM:521.5 xref: MESH:D006936 xref: SNOMEDCT_US_2023_03_01:78537008 xref: UMLS_CUI:C0020441 is_a: DOID:214 ! teeth hard tissue disease [Term] id: DOID:12735 name: hernia of ovary and fallopian tube def: "A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abdominal wall." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3327571/] xref: ICD10CM:N83.4 xref: ICD9CM:620.4 xref: UMLS_CUI:C0495094 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:12739 name: obsolete bronchial tuberculosis def: "A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways." [url:http\://books.google.com/books?id=zOiDtdtyOQEC&pg=PA494&lpg#v=onepage&q=&f=false] subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:1275 name: obsolete Pneumovirus infectious disease def: "A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions." [url:http\://expasy.org/viralzone/all_by_species/90.html] is_obsolete: true [Term] id: DOID:12750 name: cyclosporiasis def: "A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue." [url:https\://www.cdc.gov/parasites/cyclosporiasis/index.html] subset: DO_infectious_disease_slim subset: DO_rare_slim xref: GARD:9528 xref: ICD10CM:A07.4 xref: ICD9CM:007.5 xref: MESH:D021866 xref: SNOMEDCT_US_2023_03_01:240372001 xref: UMLS_CUI:C0343398 is_a: DOID:2113 ! coccidiosis [Term] id: DOID:12753 name: corneal staphyloma xref: ICD10CM:H18.72 xref: ICD9CM:371.73 xref: SNOMEDCT_US_2023_03_01:193849005 xref: UMLS_CUI:C0152440 is_a: DOID:10124 ! corneal disease [Term] id: DOID:12756 name: lacrimal duct cancer subset: NCIthesaurus synonym: "malignant neoplasm of lacrimal duct" EXACT [] synonym: "malignant tumor of lacrimal duct" EXACT [] xref: ICD9CM:190.7 xref: NCI:C3567 xref: SNOMEDCT_US_2023_03_01:93852003 xref: UMLS_CUI:C0153631 is_a: DOID:292 ! lacrimal system cancer [Term] id: DOID:12758 name: obsolete malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid synonym: "malignant neoplasm of eyeball excluding conjunctiva, cornea, retina and choroid (disorder)" EXACT [] synonym: "malignant neoplasm of eyeball, except conjunctiva, cornea, retina, and choroid" EXACT [] is_obsolete: true [Term] id: DOID:12759 name: choroid cancer alt_id: DOID:12760 subset: NCIthesaurus synonym: "choroid neoplasm" EXACT [] synonym: "Choroidal tumor" EXACT [] synonym: "malignant tumor of choroid" EXACT [] synonym: "malignant tumor of the Choroid" EXACT [] synonym: "neoplasm of choroid" EXACT [] xref: ICD10CM:C69.3 xref: ICD9CM:190.6 xref: MESH:D002830 xref: NCI:C2949 xref: NCI:C3566 xref: SNOMEDCT_US_2023_03_01:127001008 xref: SNOMEDCT_US_2023_03_01:93755007 xref: UMLS_CUI:C0008523 xref: UMLS_CUI:C0153630 is_a: DOID:1417 ! choroid disease is_a: DOID:3479 ! uveal cancer [Term] id: DOID:12763 name: obsolete classic Kaposi's sarcoma def: "A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/kaposis/Patient/page2] synonym: "Kaposi's sarcoma Classical type" EXACT [] is_obsolete: true [Term] id: DOID:12765 name: obsolete peritonsillar abscess def: "A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as 'hot potato voice' may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common." [url:http\://en.wikipedia.org/wiki/Peritonsillar_abscess] synonym: "Peritonsillar abscess" EXACT [] synonym: "Peritonsillar abscess (disorder)" EXACT [] synonym: "Quinsy" EXACT [] is_obsolete: true [Term] id: DOID:12773 name: obsolete endemic African Kaposi's sarcoma def: "A Kaposi's sarcoma that is located_in black Africans." [url:http\://www.ingentaconnect.com/content/bsc/ced/2001/00000026/00000003/art00009, url:http\://www.wrongdiagnosis.com/k/kaposi_sarcoma_endemic_african_form/intro.htm] is_obsolete: true [Term] id: DOID:12779 name: obsolete recurrent Kaposi's sarcoma def: "A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes." [url:http\://www.yourcancertoday.com/Cancers/Sarcoma-Kaposi-s/116] synonym: "recurrent Multiple Hemorrhagic sarcoma" EXACT [] is_obsolete: true [Term] id: DOID:1278 name: tolosa-hunt syndrome subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7777 xref: MESH:D020333 xref: NCI:C85193 xref: SNOMEDCT_US_2023_03_01:75111000 xref: UMLS_CUI:C0040381 is_a: DOID:1279 ! ocular motility disease [Term] id: DOID:12782 name: cicatricial ectropion xref: ICD9CM:374.14 xref: SNOMEDCT_US_2023_03_01:28914006 xref: UMLS_CUI:C0155196 is_a: DOID:1570 ! ectropion [Term] id: DOID:12783 name: migraine without aura def: "A migraine that is characterized by migraine headaches that are not accompanied by an aura." [url:http\://en.wikipedia.org/wiki/Migraine] comment: Xref MGI. subset: NCIthesaurus synonym: "common migraine" EXACT [] xref: ICD10CM:G43.0 xref: ICD9CM:346.1 xref: MESH:D020326 xref: MIM:607501 xref: NCI:C117004 xref: SNOMEDCT_US_2023_03_01:56097005 xref: UMLS_CUI:C0338480 is_a: DOID:6364 ! migraine [Term] id: DOID:12784 name: obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations synonym: "Diabetes mellitus juvenile type, not stated as uncontrolled, with neurological manifestations" EXACT [] synonym: "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with neurological manifestations" EXACT [] is_obsolete: true [Term] id: DOID:12785 name: diabetic polyneuropathy synonym: "Diabetes mellitus with polyneuropathy" EXACT [] synonym: "Polyneuropathy in diabetes" EXACT [] xref: ICD9CM:357.2 xref: MESH:D003929 xref: SNOMEDCT_US_2023_03_01:49455004 xref: UMLS_CUI:C0271680 is_a: DOID:9743 ! diabetic neuropathy [Term] id: DOID:1279 name: ocular motility disease subset: DO_rare_slim synonym: "disorder of eye movements" EXACT [] synonym: "eye movement disorder" EXACT [] xref: GARD:7061 xref: GARD:7237 xref: ICD9CM:378.9 xref: MESH:D015835 xref: SNOMEDCT_US_2023_03_01:45030009 xref: UMLS_CUI:C0028850 is_a: DOID:5614 ! eye disease is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:12796 name: obsolete Posterior synechiae synonym: "Posterior synechiae (disorder)" EXACT [] synonym: "Posterior synechiae of iris" EXACT [] is_obsolete: true [Term] id: DOID:12797 name: hallucinogen abuse def: "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences." [url:http\://en.wikipedia.org/wiki/Hallucinogen] xref: ICD10CM:F16.1 xref: ICD9CM:305.3 xref: SNOMEDCT_US_2023_03_01:74851005 xref: UMLS_CUI:C0018526 is_a: DOID:302 ! substance abuse [Term] id: DOID:12798 name: mucopolysaccharidosis alt_id: DOID:14716 def: "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine." [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis] comment: Xref MGI.\nOMIM mapping submitted by NeuroDevNet. [LS]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7065 xref: ICD10CM:E76.3 xref: ICD9CM:277.5 xref: MESH:D009083 xref: MIM:PS607014 xref: NCI:C61259 xref: ORDO:79213 xref: SNOMEDCT_US_2023_03_01:267452003 xref: UMLS_CUI:C0026703 is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:12799 name: mucopolysaccharidosis II def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase." [url:http\://en.wikipedia.org/wiki/Hunter_syndrome] comment: OMIM mapping submitted by NeuroDevNet. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "deficiency of iduronate-2-sulphatase" EXACT [] synonym: "Hunter syndrome" EXACT [] synonym: "Hunter's syndrome" EXACT [] synonym: "MPS II - Hunter syndrome" EXACT [] synonym: "Mucopolysaccharidosis, MPS-II" EXACT [] xref: GARD:6675 xref: ICD10CM:E76.1 xref: MESH:D016532 xref: MIM:309900 xref: NCI:C61260 xref: SNOMEDCT_US_2023_03_01:190936000 xref: UMLS_CUI:C0026705 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:128 name: obsolete vaginal soft tissue tumor is_obsolete: true [Term] id: DOID:12800 name: mucopolysaccharidosis VI def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase." [url:http\://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "arylsulfatase B deficiency" EXACT [] synonym: "deficiency of N-acetylgalactosamine-4-sulfatase" EXACT [] synonym: "Maroteaux - Lamy syndrome" EXACT [] synonym: "Maroteaux-Lamy syndrome" EXACT [] synonym: "MPS VI - Maroteaux-Lamy syndrome" EXACT [] xref: GARD:7095 xref: MESH:D009087 xref: MIM:253200 xref: NCI:C61264 xref: SNOMEDCT_US_2023_03_01:69463008 xref: UMLS_CUI:C0026709 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:12801 name: mucopolysaccharidosis III alt_id: DOID:14729 alt_id: DOID:14788 def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain." [url:http\://en.wikipedia.org/wiki/Sanfilippo_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "heparan sulfate sulfatase deficiency" EXACT [] synonym: "Mucopolysaccharidosis, MPS-III" EXACT [] synonym: "N-sulphoglucosamine sulphohydrolase deficiency" EXACT [] synonym: "naglu deficiency" NARROW [] synonym: "Sanfilippo's syndrome" EXACT [] xref: MESH:D009084 xref: MIM:252940 xref: NCI:C61262 xref: ORDO:581 xref: SNOMEDCT_US_2023_03_01:190936000 xref: UMLS_CUI:C0026706 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:12802 name: mucopolysaccharidosis I def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase." [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I] subset: DO_rare_slim subset: NCIthesaurus synonym: "Hurler syndrome" EXACT [] synonym: "Hurler-Scheie syndrome" EXACT [] synonym: "iduronidase deficiency disease" EXACT [] synonym: "Lipochondrodystrophy" EXACT [] synonym: "MPS I - Hurler syndrome" EXACT [] synonym: "Mucopolysaccharidosis, MPS-I" EXACT [] synonym: "Mucopolysaccharidosis, type 1" EXACT [] xref: GARD:10335 xref: ICD10CM:E76.0 xref: MESH:D008059 xref: NCI:C85053 xref: SNOMEDCT_US_2023_03_01:267453008 xref: UMLS_CUI:C0023786 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:12803 name: Sly syndrome def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans." [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis_VII, url:http\://omim.org/entry/253220] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "beta-glucuronidase deficiency" EXACT [] synonym: "deficiency of beta-glucuronidase" EXACT [] synonym: "MPS VII - Sly syndrome" EXACT [] synonym: "mucopolysaccharidosis VII" EXACT [] xref: ICD10CM:E76.29 xref: MESH:D016538 xref: MIM:253220 xref: NCI:C84903 xref: SNOMEDCT_US_2023_03_01:43916004 xref: UMLS_CUI:C0085132 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:12804 name: mucopolysaccharidosis IV alt_id: DOID:0050808 alt_id: DOID:14767 def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain." [url:http\://en.wikipedia.org/wiki/Morquio_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "chondroosteodystrophy" NARROW [] synonym: "deficiency of chondroitinsulphatase" EXACT [] synonym: "deficiency of N-acetylgalactosamine-6-sulphatase" EXACT [] synonym: "galactosamine-6-sulfatase deficiency" EXACT [] synonym: "Mucopolysaccharidosis, MPS-IV" EXACT [] synonym: "Osteochondrodystrophy" NARROW [] xref: ICD10CM:E76.219 xref: MESH:D009085 xref: NCI:C61263 xref: SNOMEDCT_US_2023_03_01:378007 xref: UMLS_CUI:C0026707 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:12809 name: chronic lacrimal gland enlargement synonym: "chronic enlargement of lacrimal gland" EXACT [] xref: ICD10CM:H04.03 xref: ICD9CM:375.03 xref: SNOMEDCT_US_2023_03_01:4839005 xref: UMLS_CUI:C1300133 is_a: DOID:950 ! dacryoadenitis [Term] id: DOID:12819 name: obsolete Clostridium difficile intestinal infectious disease def: "A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain." [url:http\://www.cdc.gov/ncidod/dhqp/pdf/infDis/Cdiff_CCJM02_06.pdf] subset: gram-positive_bacterial_infectious_disease synonym: "intestinal infectious disease due to clostridium difficile" EXACT [] is_obsolete: true [Term] id: DOID:1283 name: enterocele def: "A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8202302] synonym: "vaginal enterocele" EXACT [] xref: ICD10CM:K46 xref: ICD9CM:618.6 xref: MESH:D006547 xref: SNOMEDCT_US_2023_03_01:47671001 xref: UMLS_CUI:C0205792 is_a: DOID:1284 ! prolapse of female genital organ [Term] id: DOID:12835 name: quadriplegia subset: NCIthesaurus synonym: "tetraplegia" EXACT [] xref: ICD10CM:G82.5 xref: ICD9CM:344.00 xref: MESH:D011782 xref: NCI:C50721 xref: SNOMEDCT_US_2023_03_01:11538006 xref: UMLS_CUI:C0034372 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:12836 name: senile entropion synonym: "Involutional entropion" EXACT [] xref: ICD9CM:374.01 xref: SNOMEDCT_US_2023_03_01:55408009 xref: UMLS_CUI:C0155188 is_a: DOID:12397 ! entropion [Term] id: DOID:12837 name: thyroid crisis subset: NCIthesaurus synonym: "Thyrotoxic crisis" EXACT [] xref: MESH:D013958 xref: NCI:C112836 xref: SNOMEDCT_US_2023_03_01:190262002 xref: UMLS_CUI:C0040127 is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:12838 name: obsolete secondary thyroid hyperplasia is_obsolete: true [Term] id: DOID:12839 name: obsolete thyrotoxicosis from ectopic thyroid nodule alt_id: DOID:12943 alt_id: DOID:12944 synonym: "hyperthyroidism due to ectopic thyroid nodule (disorder)" EXACT [] synonym: "Thyrotoxicosis from ectopic thyroid nodule NOS (disorder)" EXACT [] synonym: "thyrotoxicosis from ectopic thyroid nodule with crisis" EXACT [] synonym: "Thyrotoxicosis from ectopic thyroid nodule with crisis (disorder)" EXACT [] synonym: "Thyrotoxicosis from ectopic thyroid nodule with mention of thyrotoxic crisis or storm" EXACT [] synonym: "thyrotoxicosis from ectopic thyroid nodule with no crisis" EXACT [] synonym: "Thyrotoxicosis from ectopic thyroid nodule with no crisis (disorder)" EXACT [] synonym: "Thyrotoxicosis from ectopic thyroid nodule without mention of thyrotoxic crisis or storm" EXACT [] is_obsolete: true [Term] id: DOID:1284 name: prolapse of female genital organ def: "A female reproductive system disease that is characterized by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening." [url:https\://www.aafp.org/afp/2010/0501/p1111.html] xref: ICD9CM:618.8 xref: UMLS_CUI:C0029801 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:12840 name: obsolete Ancylostoma ceylanicum ancylostomiasis def: "An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine." [url:http\://emedicine.medscape.com/article/996361-overview] synonym: "Ancylostomiasis due to ancylostoma ceylanicum" EXACT [] synonym: "Ancylostomiasis due to Ancylostoma ceylonicum (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12841 name: ancylostomiasis def: "A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition." [url:http\://en.wikipedia.org/wiki/Ancylostomiasis] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:9742 xref: ICD10CM:B76.0 xref: MESH:D000724 xref: NCI:C35805 xref: SNOMEDCT_US_2023_03_01:85807000 xref: UMLS_CUI:C0002831 is_a: DOID:37 ! skin disease is_a: DOID:5614 ! eye disease is_a: DOID:883 ! parasitic helminthiasis infectious disease property_value: exactMatch "MESH:D000724" xsd:string [Term] id: DOID:12842 name: Guillain-Barre syndrome def: "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system." [url:http\://www.ninds.nih.gov/disorders/gbs/gbs.htm] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "acute infective polyneuritis" EXACT [] synonym: "acute inflammatory demyelinating polyradiculopathy" EXACT [] synonym: "acute postinfectious polyneuropathy" EXACT [] synonym: "Infectious neuronitis" EXACT [] synonym: "Post-infectious polyneuritis" EXACT [] synonym: "Postinfectious polyneuritis" EXACT [] xref: GARD:6554 xref: ICD10CM:G61.0 xref: MESH:D020275 xref: MIM:139393 xref: NCI:C116345 xref: SNOMEDCT_US_2023_03_01:155082001 xref: UMLS_CUI:C0018378 is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system [Term] id: DOID:12843 name: obsolete polyneuritis synonym: "multiple peripheral neuritis" EXACT [] synonym: "polyneuritis" EXACT [] synonym: "Polyneuritis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12849 name: autistic disorder def: "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years." [url:http\://en.wikipedia.org/wiki/Autism, url:http\://www.neurodevnet.ca] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "autism" EXACT [] synonym: "autistic disorder of childhood onset" EXACT [] synonym: "childhood autism" EXACT [] synonym: "infantile autism" EXACT [] synonym: "Kanner's syndrome" EXACT [] xref: EFO:0003758 xref: ICD10CM:F84.0 xref: ICD9CM:299.0 xref: MESH:D001321 xref: MIM:209850 xref: NCI:C97161 xref: ORDO:106 xref: SNOMEDCT_US_2023_03_01:38763009 xref: UMLS_CUI:C0004352 is_a: DOID:0060041 ! autism spectrum disorder [Term] id: DOID:1285 name: rectal disease xref: MESH:D012002 xref: SNOMEDCT_US_2023_03_01:5964004 xref: UMLS_CUI:C0034882 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:12852 name: obsolete adhesions of drum head to incus is_obsolete: true [Term] id: DOID:12853 name: obsolete adhesions of drum head to promontorium is_obsolete: true [Term] id: DOID:12854 name: obsolete adhesions of drum head to stapes is_obsolete: true [Term] id: DOID:12857 name: Achilles bursitis synonym: "Achilles bursitis or tendinitis" EXACT [] synonym: "Capped hock" EXACT [] synonym: "Haglund's deformity" EXACT [] synonym: "Haglund's disease" EXACT [] xref: ICD10CM:M76.6 xref: SNOMEDCT_US_2023_03_01:202879008 xref: UMLS_CUI:C0149846 is_a: DOID:2965 ! bursitis [Term] id: DOID:12858 name: Huntington's disease def: "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities." [url:http\://en.wikipedia.org/wiki/Huntington_disease, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple] subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "HD" EXACT OMO:0003012 [] synonym: "Huntington disease" EXACT [] synonym: "Huntington's chorea" EXACT [] xref: GARD:6677 xref: ICD10CM:G10 xref: ICD9CM:333.4 xref: KEGG:05016 xref: MESH:D006816 xref: MIM:143100 xref: NCI:C82342 xref: SNOMEDCT_US_2023_03_01:58756001 xref: UMLS_CUI:C0020179 is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:12859 name: choreatic disease def: "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next." [url:http\://en.wikipedia.org/wiki/Chorea, url:http\://www.ncbi.nlm.nih.gov/mesh?term=Choreatic%20Disorders] comment: Xref MGI. subset: DO_rare_slim synonym: "chorea" EXACT [] synonym: "hereditary chorea" EXACT [] xref: ICD10CM:G25.5 xref: MIM:118700 xref: MIM:215450 xref: ORDO:1429 is_a: DOID:480 ! movement disease [Term] id: DOID:12860 name: obsolete non-neoplastic nevus of skin synonym: "nevus, non-neoplastic" EXACT [] synonym: "Non-neoplastic nevus" EXACT [] synonym: "Non-neoplastic nevus (disorder)" EXACT [] synonym: "Non-neoplastic nevus NOS (disorder)" EXACT [] synonym: "Non-neoplastic nevus of skin (disorder)" EXACT [] synonym: "Non-neoplastic nevus of skin (disorder) [Ambiguous]" EXACT [] is_obsolete: true [Term] id: DOID:12863 name: obsolete senile nevus synonym: "Senile naevus" EXACT [] synonym: "Senile nevus" EXACT [] synonym: "Senile nevus (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12864 name: obsolete acrosyringeal nevus synonym: "Acrosyringeal nevus" EXACT [] synonym: "Acrosyringeal nevus (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1287 name: cardiovascular system disease alt_id: DOID:73 def: "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." [url:http\://en.wikipedia.org/wiki/Circulatory_system] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim subset: DO_RAD_slim subset: NCIthesaurus synonym: "disease of subdivision of hemolymphoid system" EXACT [] xref: ICD9CM:429.2 xref: MESH:D002318 xref: NCI:C2931 xref: SNOMEDCT_US_2023_03_01:266275004 xref: UMLS_CUI:C0007222 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:12879 name: obsolete Pars plana exudative cyst synonym: "Exudative cyst of pars plana" EXACT [] synonym: "Exudative cyst of pars plana (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12881 name: obsolete idiopathic urticaria synonym: "Idiopathic urticaria (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12883 name: hypochondriasis def: "A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness." [url:http\://en.wikipedia.org/wiki/Hypochondriasis] subset: NCIthesaurus synonym: "Hypochondria" EXACT [] synonym: "Hypochondriacal disorder" EXACT [] synonym: "hypochondriacal neurosis" EXACT [] xref: ICD10CM:F45.21 xref: ICD9CM:300.7 xref: MESH:D006998 xref: NCI:C9493 xref: SNOMEDCT_US_2023_03_01:18193002 xref: UMLS_CUI:C0020604 is_a: DOID:4737 ! somatoform disorder [Term] id: DOID:12888 name: obsolete Chlamydophila psittaci pneumonia def: "An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum." [url:http\://en.wikipedia.org/wiki/Ornithosis, url:http\://www.merck.com/mmhe/sec04/ch042/ch042b.html#SB_42_03] subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "louisiana pneumonia" EXACT [] synonym: "Ornithosis with pneumonia" EXACT [] synonym: "Ornithosis with pneumonia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12889 name: Miller Fisher syndrome def: "A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia." [url:http\://en.wikipedia.org/wiki/Miller_Fisher_syndrome#Classification] subset: DO_rare_slim subset: NCIthesaurus synonym: "Fisher's syndrome" EXACT [] synonym: "Miller-Fisher variant of Guillain-Barre syndrome" EXACT [] xref: GARD:3668 xref: ICD10CM:G61.0 xref: MESH:D019846 xref: NCI:C116958 xref: SNOMEDCT_US_2023_03_01:1767005 xref: UMLS_CUI:C0393799 is_a: DOID:12842 ! Guillain-Barre syndrome [Term] id: DOID:1289 name: neurodegenerative disease alt_id: DOID:4874 def: "A central nervous system disease that results in the progressive deterioration of function or structure of neurons." [url:http\://en.wikipedia.org/wiki/Degenerative_disease, url:http\://en.wikipedia.org/wiki/Neurodegeneration] subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "degenerative disease" EXACT [] xref: ICD10CM:G31.9 xref: MESH:D019636 xref: NCI:C27090 xref: SNOMEDCT_US_2023_03_01:362975008 xref: UMLS_CUI:C0524851 xref: UMLS_CUI:C1285162 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:12894 name: Sjogren's syndrome alt_id: DOID:416 def: "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva." [url:http\://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome] {comment="ls:IEDB"} comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Sicca syndrome" EXACT [] synonym: "Sjogren syndrome" EXACT [] synonym: "xerodermosteosis" EXACT [] xref: GARD:10252 xref: ICD10CM:M35.0 xref: ICD9CM:710.2 xref: MESH:D012859 xref: MIM:270150 xref: NCI:C26883 xref: NCI:C70647 xref: SNOMEDCT_US_2023_03_01:267875002 xref: SNOMEDCT_US_2023_03_01:83901003 xref: UMLS_CUI:C0086981 xref: UMLS_CUI:C1527336 is_a: DOID:0060029 ! autoimmune disease of exocrine system [Term] id: DOID:12895 name: keratoconjunctivitis sicca subset: DO_rare_slim synonym: "KCS" EXACT OMO:0003012 [] xref: GARD:8444 xref: MESH:D007638 xref: SNOMEDCT_US_2023_03_01:78946008 xref: UMLS_CUI:C0022575 is_a: DOID:10140 ! dry eye syndrome [Term] id: DOID:12897 name: submandibular gland disease xref: MESH:D013364 xref: UMLS_CUI:C0038557 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:12899 name: benign lymphoepithelial lesion of salivary gland subset: NCIthesaurus synonym: "Godwin tumor" EXACT [] xref: ICD10CM:K11.8 xref: NCI:C3949 xref: SNOMEDCT_US_2023_03_01:45517002 xref: UMLS_CUI:C0266995 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:12900 name: Mikulicz disease def: "An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection." [url:https\://rarediseases.org/rare-diseases/mikulicz-syndrome/] subset: DO_rare_slim subset: NCIthesaurus synonym: "IgG4-related dacryoadenitis and sialadenitis" EXACT [] synonym: "Mikulicz's disease" EXACT [] xref: GARD:7043 xref: ICD10CM:K11.8 xref: MESH:D008882 xref: NCI:C34819 xref: SNOMEDCT_US_2023_03_01:7826003 xref: UMLS_CUI:C0026103 is_a: DOID:417 ! autoimmune disease [Term] id: DOID:12901 name: necrotizing sialometaplasia xref: ICD10CM:K11.8 xref: MESH:D012797 xref: SNOMEDCT_US_2023_03_01:109769000 xref: UMLS_CUI:C0037033 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:12904 name: mucocele of salivary gland subset: NCIthesaurus synonym: "Mucous retention cyst of salivary gland" EXACT [] synonym: "Ranula" EXACT [] synonym: "Salivary Cyst" EXACT [] synonym: "Salivary gland mucocele" EXACT [] xref: ICD10CM:K11.6 xref: ICD9CM:527.6 xref: NCI:C27649 xref: SNOMEDCT_US_2023_03_01:196508008 xref: UMLS_CUI:C0026686 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:12905 name: sialolithiasis synonym: "Salivary gland Stone" EXACT [] synonym: "Sialolith" EXACT [] synonym: "Stone of salivary gland or duct" EXACT [] xref: ICD10CM:K11.5 xref: ICD9CM:527.5 xref: MESH:D015494 xref: SNOMEDCT_US_2023_03_01:155656006 xref: UMLS_CUI:C0036091 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:12910 name: obsolete sickle-cell/Hb-C disease with crisis synonym: "Sickle cell-hemoglobin C disease with crisis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12918 name: thromboangiitis obliterans comment: OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus synonym: "Buerger's disease" EXACT [] synonym: "Presenile gangrene" EXACT [] xref: ICD10CM:I73.1 xref: ICD9CM:443.1 xref: MESH:D013919 xref: MIM:211480 xref: NCI:C35070 xref: SNOMEDCT_US_2023_03_01:195298008 xref: UMLS_CUI:C0040021 is_a: DOID:341 ! peripheral vascular disease [Term] id: DOID:12919 name: Plasmodium ovale malaria def: "A malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ovale%20malaria] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease synonym: "Malariaby Plasmodium ovale" EXACT [] synonym: "Ovale malaria" EXACT [] xref: ICD10CM:B53.0 xref: ICD9CM:084.3 xref: SNOMEDCT_US_2023_03_01:19341001 xref: UMLS_CUI:C0152072 is_a: DOID:12365 ! malaria [Term] id: DOID:12921 name: obsolete childhood schizophrenia synonym: "childhood Schizophrenia" EXACT [] synonym: "childhood schizophrenia" EXACT [] synonym: "childhood schizophrenia NOS" EXACT [] synonym: "childhood schizophrenia NOS (disorder)" EXACT [] synonym: "Schizophrenic syndrome of childhood NOS" EXACT [] is_obsolete: true [Term] id: DOID:12922 name: obsolete acute undifferentiated schizophrenia synonym: "acute schizophrenic episode" EXACT [] synonym: "acute schizophrenic episode (disorder)" EXACT [] synonym: "acute schizophrenic episode, unspecified state" EXACT [] is_obsolete: true [Term] id: DOID:12923 name: obsolete chronic undifferentiated schizophrenia synonym: "chronic undifferentiated schizophrenia (disorder)" EXACT [] synonym: "Unspecified schizophrenia, chronic state" EXACT [] is_obsolete: true [Term] id: DOID:12926 name: hypodermyiasis def: "A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful." [url:http\://en.wikipedia.org/wiki/Dermatobia_hominis, url:http\://en.wikipedia.org/wiki/Hypodermyiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim xref: GARD:2883 xref: MESH:D007000 xref: UMLS_CUI:C0020607 is_a: DOID:11080 ! myiasis [Term] id: DOID:12927 name: screw worm infectious disease def: "A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage." [url:http\://en.wikipedia.org/wiki/Chrysomya_bezziana, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm] subset: DO_infectious_disease_slim xref: MESH:D012610 xref: UMLS_CUI:C0036465 is_a: DOID:11080 ! myiasis [Term] id: DOID:12928 name: obsolete nutritional cardiomyopathy synonym: "Nutritional and metabolic cardiomyopathies (disorder)" EXACT [] synonym: "Nutritional and metabolic cardiomyopathy NOS" EXACT [] synonym: "Nutritional and metabolic cardiomyopathy NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12929 name: endocardial fibroelastosis def: "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." [url:http\://en.wikipedia.org/wiki/Endocardial_fibroelastosis, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/219/viewAbstract] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Elastomyofibrosis" EXACT [] xref: GARD:2121 xref: GARD:6336 xref: ICD10CM:I42.4 xref: ICD9CM:425.3 xref: MESH:D004695 xref: MIM:226000 xref: NCI:C98922 xref: SNOMEDCT_US_2023_03_01:65457005 xref: UMLS_CUI:C0014117 is_a: DOID:0050825 ! endocardium disease property_value: exactMatch "MESH:D004695" xsd:string [Term] id: DOID:1293 name: labia minora carcinoma def: "A vulva carcinoma that is located_in the labia minora." [url:https\://www.ncbi.nlm.nih.gov/pubmed/13733610] subset: NCIthesaurus synonym: "carcinoma of labia minora" RELATED [] synonym: "Labia Minora cancer" EXACT [] xref: NCI:C9364 xref: UMLS_CUI:C1334357 is_a: DOID:1294 ! vulva carcinoma [Term] id: DOID:12930 name: dilated cardiomyopathy def: "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." [url:http\://en.wikipedia.org/wiki/Dilated_cardiomyopathy] comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Congestive cardiomyopathy" RELATED [] synonym: "Familial dilated cardiomyopathy" RELATED [MESH:C536231] synonym: "Idiopathic dilation cardiomyopathy" RELATED [MESH:C536277] synonym: "primary dilated cardiomyopathy" EXACT [] xref: EFO:0000407 xref: GARD:221 xref: ICD10CM:I42.0 xref: KEGG:05414 xref: MESH:D002311 xref: MIM:PS115200 xref: NCI:C84673 xref: ORDO:217604 xref: SNOMEDCT_US_2023_03_01:74368002 xref: UMLS_CUI:C0007193 is_a: DOID:0060036 ! intrinsic cardiomyopathy [Term] id: DOID:12932 name: endomyocardial fibrosis subset: DO_rare_slim subset: NCIthesaurus synonym: "African endomyocardial fibrosis" EXACT [] synonym: "Becker's disease" EXACT [] synonym: "Endomyocardial sclerosis" EXACT [] synonym: "obscure African cardiomyopathy" EXACT [] xref: GARD:6340 xref: ICD9CM:425.0 xref: MESH:D004719 xref: NCI:C34585 xref: SNOMEDCT_US_2023_03_01:111507009 xref: UMLS_CUI:C0553980 is_a: DOID:397 ! restrictive cardiomyopathy [Term] id: DOID:12934 name: Kearns-Sayre syndrome comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6817 xref: ICD10CM:H49.81 xref: MESH:D007625 xref: MIM:530000 xref: NCI:C84798 xref: SNOMEDCT_US_2023_03_01:25792000 xref: UMLS_CUI:C0022541 is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:12935 name: alcoholic cardiomyopathy subset: NCIthesaurus synonym: "Alcohol-induced heart muscle disease" EXACT [] synonym: "Dilated cardiomyopathy secondary to alcohol" EXACT [] xref: ICD10CM:I42.6 xref: ICD9CM:425.5 xref: MESH:D002310 xref: NCI:C53653 xref: SNOMEDCT_US_2023_03_01:83521008 xref: UMLS_CUI:C0007192 is_a: DOID:3978 ! extrinsic cardiomyopathy [Term] id: DOID:12936 name: obsolete secondary cardiomyopathy synonym: "secondary cardiomyopathy (disorder)" EXACT [] synonym: "secondary cardiomyopathy NOS" EXACT [] synonym: "secondary cardiomyopathy NOS (disorder)" EXACT [] synonym: "secondary cardiomyopathy, unspecified" EXACT [] is_obsolete: true [Term] id: DOID:1294 name: vulva carcinoma def: "A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://www.cancer.gov/cancertopics/types/vulvar] subset: NCIthesaurus synonym: "carcinoma of vulva" RELATED [] synonym: "Vulvar carcinoma" EXACT [] xref: NCI:C4866 xref: UMLS_CUI:C0677055 is_a: DOID:1245 ! vulva cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:12958 name: paralytic lagophthalmos xref: ICD10CM:H02.23 xref: ICD9CM:374.21 xref: MESH:D000092164 xref: SNOMEDCT_US_2023_03_01:193938000 xref: UMLS_CUI:C0155197 is_a: DOID:12959 ! lagophthalmos [Term] id: DOID:12959 name: lagophthalmos xref: ICD10CM:H02.2 xref: ICD9CM:374.2 xref: MESH:D000092164 xref: SNOMEDCT_US_2023_03_01:193936001 xref: UMLS_CUI:C0152226 is_a: DOID:530 ! eyelid disease [Term] id: DOID:12960 name: acrocephalosyndactylia alt_id: DOID:0080004 def: "A synostosis that results_in craniosynostosis and syndactyly." [url:http\://en.wikipedia.org/wiki/Acrocephalosyndactylia] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Apert syndrome" EXACT [] xref: ICD9CM:755.55 xref: MESH:D000168 xref: MIM:101200 xref: NCI:C34348 xref: SNOMEDCT_US_2023_03_01:63661009 xref: UMLS_CUI:C1510455 is_a: DOID:11971 ! synostosis property_value: exactMatch "MESH:D000168" xsd:string [Term] id: DOID:12961 name: Poland syndrome def: "A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand." [url:https\://pubmed.ncbi.nlm.nih.gov/25831684] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Poland's syndactyly" EXACT [] xref: GARD:7412 xref: ICD10CM:Q79.8 xref: MESH:D011045 xref: MIM:173800 xref: NCI:C85017 xref: SNOMEDCT_US_2023_03_01:205524002 xref: UMLS_CUI:C0032357 is_a: DOID:0080015 ! physical disorder [Term] id: DOID:12965 name: subleukemic leukemia def: "A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal." [url:http\://medical-dictionary.thefreedictionary.com/subleukemic+leukemia] is_a: DOID:1240 ! leukemia [Term] id: DOID:12969 name: central nervous system leukemia def: "A leukemia located_in the central nervous system." [url:http\://www.springerlink.com/content/gl61tx644217n938/] subset: NCIthesaurus synonym: "Leukemia of the CNS" EXACT [] xref: NCI:C5440 xref: UMLS_CUI:C1332884 is_a: DOID:1240 ! leukemia is_a: DOID:5772 ! central nervous system hematologic cancer [Term] id: DOID:12971 name: hereditary spherocytosis def: "A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape." [url:http\://en.wikipedia.org/wiki/Hereditary_spherocytosis, url:https\://research.nhgri.nih.gov/RBCmembrane/] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "Congenital spherocytic hemolytic anemia" EXACT [] synonym: "Minkowski Chauffard syndrome" EXACT [] synonym: "spherocytic anemia" EXACT [] xref: GARD:6639 xref: ICD10CM:D58.0 xref: ICD9CM:282.0 xref: MESH:D013103 xref: NCI:C97074 xref: ORDO:822 xref: SNOMEDCT_US_2023_03_01:154795009 xref: UMLS_CUI:C0037889 is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:12972 name: intrapelvic lymph node leukemic reticuloendotheliosis synonym: "Leukemic reticuloendotheliosis involving intrapelvic lymph nodes" EXACT [] synonym: "Leukemic reticuloendotheliosis of intrapelvic lymph nodes" EXACT [] xref: ICD9CM:202.46 xref: SNOMEDCT_US_2023_03_01:188650008 xref: UMLS_CUI:C0153831 is_a: DOID:10619 ! lymph node cancer [Term] id: DOID:12973 name: obsolete secondary malignant neoplasm of intrapelvic lymph node synonym: "metastasis to intrapelvic lymph node" EXACT [] synonym: "secondary and unspecified malignant neoplasm of intrapelvic lymph nodes" EXACT [] synonym: "secondary and unspecified malignant neoplasm of intrapelvic lymph nodes (disorder)" EXACT [] synonym: "secondary and unspecified malignant neoplasm of intrapelvic lymph nodes NOS (disorder)" EXACT [] synonym: "secondary malignant neoplasm of intrapelvic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12978 name: Plasmodium vivax malaria def: "A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vivax+malaria] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Malaria by Plasmodium vivax" EXACT [] synonym: "Vivax Malaria" EXACT [] xref: ICD10CM:B51 xref: ICD9CM:084.1 xref: MESH:D016780 xref: NCI:C34800 xref: SNOMEDCT_US_2023_03_01:27052006 xref: UMLS_CUI:C0024537 is_a: DOID:12365 ! malaria [Term] id: DOID:12983 name: obsolete transient disorder of initiating or maintaining sleep is_obsolete: true [Term] id: DOID:12984 name: vagus nerve neoplasm subset: NCIthesaurus synonym: "neoplasm of vagus nerve" EXACT [] synonym: "Vagus nerve tumors" EXACT [] xref: NCI:C5831 xref: SNOMEDCT_US_2023_03_01:126976007 xref: UMLS_CUI:C1263901 is_a: DOID:2815 ! cranial nerve malignant neoplasm [Term] id: DOID:12985 name: obsolete functional disorder of polymorphonuclear neutrophils synonym: "Functional disorder of polymorphonuclear neutrophils (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:12986 name: leukostasis subset: NCIthesaurus xref: MESH:D018921 xref: NCI:C4062 xref: SNOMEDCT_US_2023_03_01:30419000 xref: UMLS_CUI:C0282548 is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:12987 name: agranulocytosis def: "A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood." [url:https\://en.wikipedia.org/wiki/Agranulocytosis] synonym: "granulocytopenia" EXACT [] synonym: "Granulocytopenic disorder" EXACT [] synonym: "Granulopenia" EXACT [] xref: ICD10CM:D70 xref: MESH:D000380 xref: SNOMEDCT_US_2023_03_01:154830007 xref: UMLS_CUI:C0001824 is_a: DOID:615 ! leukopenia property_value: exactMatch "MESH:D000380" xsd:string [Term] id: DOID:12995 name: conduct disorder def: "A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated." [url:http\://en.wikipedia.org/wiki/Conduct_disorder, url:http\://www.nmha.org/go/conduct-disorder] subset: NCIthesaurus xref: EFO:0004216 xref: ICD10CM:F91 xref: ICD9CM:312.9 xref: MESH:D019955 xref: NCI:C89329 xref: SNOMEDCT_US_2023_03_01:430909002 xref: UMLS_CUI:C0149654 is_a: DOID:0060038 ! specific developmental disorder [Term] id: DOID:12996 name: acute dacryocystitis synonym: "Dacryocystitis - acute" EXACT [] xref: ICD10CM:H04.32 xref: ICD9CM:375.32 xref: SNOMEDCT_US_2023_03_01:193986007 xref: UMLS_CUI:C0155237 is_a: DOID:9938 ! dacryocystitis [Term] id: DOID:12997 name: Phlegmonous dacryocystitis xref: ICD10CM:H04.31 xref: ICD9CM:375.33 xref: SNOMEDCT_US_2023_03_01:193988008 xref: UMLS_CUI:C0155238 is_a: DOID:9938 ! dacryocystitis [Term] id: DOID:130 name: obsolete female genitalia nevus is_obsolete: true [Term] id: DOID:13001 name: carotid stenosis subset: NCIthesaurus synonym: "Carotid artery stenosis" EXACT [] synonym: "Stenosis, carotid artery" EXACT [] xref: MESH:D016893 xref: NCI:C95804 xref: SNOMEDCT_US_2023_03_01:195181000 xref: UMLS_CUI:C0007282 is_a: DOID:3407 ! carotid artery disease [Term] id: DOID:13002 name: subclavian steal syndrome subset: NCIthesaurus synonym: "Subclavian artery stenosis" EXACT [] synonym: "subclavian steal phenomenon" EXACT [] synonym: "subclavian steal steno-occlusive disease" EXACT [] xref: ICD9CM:435.2 xref: MESH:D013349 xref: NCI:C35044 xref: SNOMEDCT_US_2023_03_01:15258001 xref: UMLS_CUI:C0038531 is_a: DOID:225 ! syndrome [Term] id: DOID:13003 name: vertebrobasilar insufficiency synonym: "Vertebro-basilar insufficiency" EXACT [] synonym: "Vertebrobasilar arterial insufficiency" EXACT [] synonym: "Vertebrobasilar artery syndrome" EXACT [] xref: ICD10CM:G45.0 xref: ICD9CM:435.3 xref: MESH:D014715 xref: SNOMEDCT_US_2023_03_01:195196001 xref: UMLS_CUI:C0042568 is_a: DOID:224 ! transient cerebral ischemia property_value: exactMatch "MESH:D014715" xsd:string [Term] id: DOID:13005 name: intra-abdominal lymph node mast cell malignancy synonym: "malignant mast cell tumors involving intra-abdominal lymph nodes" EXACT [] synonym: "Mast cell malignancy of intra-abdominal lymph nodes" EXACT [] xref: ICD9CM:202.63 xref: SNOMEDCT_US_2023_03_01:188664008 xref: UMLS_CUI:C0153844 is_a: DOID:10619 ! lymph node cancer is_a: DOID:3664 ! mast cell neoplasm [Term] id: DOID:1301 name: obsolete RNA virus infectious disease alt_id: DOID:1330 alt_id: DOID:1337 alt_id: DOID:14084 alt_id: DOID:1892 alt_id: DOID:2872 alt_id: DOID:995 def: "A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material." [url:http\://en.wikipedia.org/wiki/RNA_viruses] synonym: "arbovirus hemorrhagic fever" EXACT [] synonym: "Hemorrhagic Fever" EXACT [] synonym: "hemorrhagic fever" EXACT [] synonym: "Mite-Born Hemorrhagic Fever" EXACT [] synonym: "mite-borne hemorrhagic fever" EXACT [] synonym: "Mite-borne hemorrhagic fever (disorder)" EXACT [] synonym: "Mosquito-borne haemorrhagic fever" EXACT [] synonym: "Mosquito-borne hemorrhagic fever" EXACT [] synonym: "mosquito-borne hemorrhagic fever" EXACT [] synonym: "Mosquito-borne hemorrhagic fever (disorder)" EXACT [] synonym: "rodent-borne hemorrhagic fever" EXACT [] synonym: "Rodent-borne hemorrhagic fever (disorder)" EXACT [] synonym: "tick-borne hemorrhagic fever" EXACT [] synonym: "Unspecified viral haemorrhagic fever" EXACT [] synonym: "Unspecified viral hemorrhagic fever (disorder)" EXACT [] synonym: "Viral Hemorrhagic Fever" EXACT [] synonym: "viral hemorrhagic fever" EXACT [] synonym: "Viral hemorrhagic fever (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13014 name: shipyard eye subset: NCIthesaurus synonym: "EKC" EXACT OMO:0003012 [] synonym: "Epidemic keratoconjunctivitis" EXACT [] xref: ICD10CM:B30.0 xref: ICD9CM:077.1 xref: NCI:C34590 xref: SNOMEDCT_US_2023_03_01:60548004 xref: UMLS_CUI:C0014493 is_a: DOID:9368 ! keratoconjunctivitis [Term] id: DOID:13019 name: obsolete cryptococcal gastroenteritis def: "A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain." [url:http\://smj.sma.org.sg/4911/4911cr4.pdf, url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/cryptococcosis.pdf] synonym: "Cryptococcal Gastroenteritis" EXACT [] synonym: "Cryptococcal gastroenteritis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13020 name: obsolete pulmonary cryptococcosis def: "A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing." [url:http\://en.wikipedia.org/wiki/Cryptococcosis, url:http\://www.merck.com/mmhe/sec17/ch197/ch197f.html?qt=pulmonary%20cryptococcosis&alt=sh, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cryptococcosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/17312037] synonym: "Cryptococcal Pneumonia" EXACT [] is_obsolete: true [Term] id: DOID:13021 name: obsolete AIDS-related cryptococcosis def: "A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV." [url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4] is_obsolete: true [Term] id: DOID:13023 name: obsolete sickle cell trait synonym: "Haemoglobin S trait" EXACT [] synonym: "Hb-S trait" EXACT [] synonym: "Sickle cell trait (disorder)" EXACT [] synonym: "Sickle-cell trait" EXACT [] is_obsolete: true [Term] id: DOID:13025 name: retinopathy of prematurity subset: DO_rare_slim subset: NCIthesaurus synonym: "premature retinopathy" EXACT [] synonym: "Retrolental fibroplasia" EXACT [] xref: GARD:5695 xref: ICD10CM:H35.1 xref: ICD9CM:362.21 xref: MESH:D012178 xref: NCI:C34982 xref: SNOMEDCT_US_2023_03_01:155110004 xref: UMLS_CUI:C0035344 is_a: DOID:5679 ! retinal disease [Term] id: DOID:13026 name: lobomycosis def: "A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions." [url:http\://www.cdc.gov/EID/content/15/8/1301.htm, url:http\://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Lobomycosis/index.html] subset: DO_infectious_disease_slim synonym: "Cutaneous blastomycosis" RELATED [] synonym: "Cutaneous lobomycosis" EXACT [] synonym: "infection by Loboa loboi" EXACT [] xref: ICD10CM:B48.0 xref: ICD9CM:116.2 xref: MESH:D060368 xref: SNOMEDCT_US_2023_03_01:47306003 xref: UMLS_CUI:C0152066 is_a: DOID:1563 ! dermatomycosis [Term] id: DOID:13027 name: transient global amnesia def: "An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories." [url:http\://en.wikipedia.org/wiki/Transient_global_amnesia] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:8172 xref: ICD10CM:G45.4 xref: ICD9CM:437.7 xref: MESH:D020236 xref: NCI:C85198 xref: SNOMEDCT_US_2023_03_01:366963000 xref: UMLS_CUI:C0338591 is_a: DOID:10914 ! amnestic disorder [Term] id: DOID:13031 name: balanoposthitis xref: ICD10CM:N47.6 xref: ICD9CM:607.1 xref: SNOMEDCT_US_2023_03_01:198020004 xref: UMLS_CUI:C0004691 is_a: DOID:1529 ! penile disease [Term] id: DOID:13032 name: obsolete Trichomonas balanoposthitis def: "A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin." [url:http\://emedicine.medscape.com/article/230617-overview] synonym: "trichomonal balanoposthitis" EXACT [] synonym: "Trichomonal balanoposthitis (disorder)" EXACT [] synonym: "Trichomonal balanoposthitis [Ambiguous]" EXACT [] synonym: "Trichomonas Balanoposthitis" EXACT [] is_obsolete: true [Term] id: DOID:13033 name: balanitis subset: NCIthesaurus xref: ICD10CM:N48.1 xref: MESH:D001446 xref: NCI:C26705 xref: SNOMEDCT_US_2023_03_01:155928003 xref: UMLS_CUI:C0004690 is_a: DOID:1529 ! penile disease [Term] id: DOID:13034 name: relapsing fever def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse." [url:http\://www.cdc.gov/ncidod/dvbid/RelapsingFever/index.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease xref: ICD10CM:A68 xref: ICD9CM:087 xref: MESH:D012061 xref: SNOMEDCT_US_2023_03_01:186820006 xref: UMLS_CUI:C0035021 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:13035 name: louse-borne relapsing fever def: "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30869050] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus synonym: "Relapsing fever, louse-borne" EXACT [] xref: ICD10CM:A68.0 xref: ICD9CM:087.0 xref: MESH:D012061 xref: NCI:C128426 xref: SNOMEDCT_US_2023_03_01:14683004 xref: UMLS_CUI:C0152061 is_a: DOID:13034 ! relapsing fever [Term] id: DOID:13036 name: tick-borne relapsing fever def: "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy." [url:http\://en.wikipedia.org/wiki/Relapsing_fever] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "Relapsing fever, tick-borne" EXACT [] synonym: "soft tick relapsing fever" EXACT [] xref: ICD10CM:A68.1 xref: ICD9CM:087.1 xref: NCI:C34976 xref: SNOMEDCT_US_2023_03_01:10301003 xref: UMLS_CUI:C0035022 is_a: DOID:13034 ! relapsing fever [Term] id: DOID:13037 name: mechanical lagophthalmos xref: ICD10CM:H02.22 xref: ICD9CM:374.22 xref: SNOMEDCT_US_2023_03_01:193939008 xref: UMLS_CUI:C0155198 is_a: DOID:12959 ! lagophthalmos [Term] id: DOID:13038 name: cicatricial lagophthalmos xref: ICD10CM:H02.21 xref: ICD9CM:374.23 xref: MESH:D000092164 xref: SNOMEDCT_US_2023_03_01:193940005 xref: UMLS_CUI:C0155199 is_a: DOID:12959 ! lagophthalmos [Term] id: DOID:13040 name: obsolete syphilitic optic atrophy subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilitic optic atrophy (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13042 name: persistent fetal circulation syndrome comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "congenital alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT [] synonym: "Fetal circulation" EXACT [] synonym: "Persistent fetal circulation" EXACT [] synonym: "Persistent foetal circulation" EXACT [] synonym: "persistent foetal circulation syndrome" EXACT [] synonym: "persistent pulmonary hypertension of the newborn" EXACT [] xref: ICD10CM:P29.3 xref: ICD9CM:747.83 xref: MESH:D010547 xref: MIM:265380 xref: NCI:C85006 xref: SNOMEDCT_US_2023_03_01:35604006 xref: UMLS_CUI:C0031190 is_a: DOID:6432 ! pulmonary hypertension [Term] id: DOID:13046 name: acute sphenoidal sinusitis def: "A sphenoid sinusitis which lasts for less than 4 weeks." [url:http\://en.wikipedia.org/wiki/sinusitis] synonym: "Sphenoidal sinus -acute" EXACT [] xref: ICD10CM:J01.3 xref: ICD9CM:461.3 xref: SNOMEDCT_US_2023_03_01:77919000 xref: UMLS_CUI:C0155807 is_a: DOID:10794 ! sphenoid sinusitis [Term] id: DOID:13047 name: obsolete Ancylostoma braziliense ancylostomiasis def: "An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions." [] synonym: "Ancylostomiasis due to Ancylostoma Braziliense" EXACT [] synonym: "Ancylostomiasis due to ancylostoma braziliense" EXACT [] synonym: "Ancylostomiasis due to Ancylostoma braziliense (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13049 name: obsolete Ancylostoma duodenale ancylostomiasis def: "An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia." [url:http\://en.wikipedia.org/wiki/Ancylostoma_duodenale] synonym: "Ancylostomiasis due to Ancylostoma Duodenale" EXACT [] synonym: "Ancylostomiasis due to Ancylostoma duodenale" EXACT [] synonym: "Ancylostomiasis due to Ancylostoma duodenale (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1305 name: obsolete AIDS dementia complex def: "A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems." [url:http\://en.wikipedia.org/wiki/AIDS_dementia_complex] subset: zoonotic_infectious_disease synonym: "acquired immune deficiency syndrome dementia complex" EXACT [] synonym: "AIDS Dementia" EXACT [] synonym: "HIV associated cognitive and motor complex" EXACT [] synonym: "HIV-associated dementia" EXACT [] is_obsolete: true [Term] id: DOID:13050 name: corpus luteum cyst def: "An ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release." [url:https\://www.mayoclinic.org/diseases-conditions/ovarian-cysts/multimedia/corpus-luteum-cyst/img-20007971] xref: ICD9CM:620.1 xref: UMLS_CUI:C0156361 is_a: DOID:5119 ! ovarian cyst [Term] id: DOID:1306 name: obsolete HIV encephalopathy def: "An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change." [url:http\://emedicine.medscape.com/article/1166894-overview] subset: zoonotic_infectious_disease synonym: "AIDS Encephalopathy" EXACT [] synonym: "Human immunodefiency virus encephalopathy" EXACT [] is_obsolete: true [Term] id: DOID:13060 name: traumatic glaucoma def: "A glaucoma characterized by elevated intraocular pressure secondary to ocular trauma, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Traumatic glaucoma is caused by ocular trauma that affects aqueous outflow, such as trauma that leads to inflammation or deposition of proteins in the trabecular network, that changes the anterior chamber angle, or that causes chronic inflammation." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741166/] synonym: "Glaucoma associated with ocular trauma" EXACT [] xref: ICD9CM:365.65 xref: SNOMEDCT_US_2023_03_01:68241007 xref: UMLS_CUI:C0339594 is_a: DOID:1686 ! glaucoma [Term] id: DOID:13063 name: obsolete moderate recurrent major depression synonym: "Major depressive disorder, recurrent episode, moderate degree" EXACT [] synonym: "Moderate recurrent major depression (disorder)" EXACT [] synonym: "recurrent depressive disorder, current episode moderate (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13068 name: renal osteodystrophy subset: NCIthesaurus synonym: "renal rickets" EXACT [] xref: ICD10CM:N25.0 xref: ICD9CM:588.0 xref: MESH:D012080 xref: NCI:C114827 xref: SNOMEDCT_US_2023_03_01:266617009 xref: UMLS_CUI:C0035086 is_a: DOID:557 ! kidney disease [Term] id: DOID:1307 name: dementia def: "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000739.htm] subset: DO_RAD_slim xref: ICD9CM:290.8 xref: UMLS_CUI:C0154319 is_a: DOID:1561 ! cognitive disorder [Term] id: DOID:13072 name: acquired hyperkeratosis subset: NCIthesaurus synonym: "acquired keratoderma" EXACT [] synonym: "Keratoderma - acquired" EXACT [] synonym: "Keratoderma, acquired" EXACT [] xref: ICD9CM:701.1 xref: NCI:C34746 xref: SNOMEDCT_US_2023_03_01:20637002 xref: UMLS_CUI:C0022581 is_a: DOID:161 ! keratosis [Term] id: DOID:13074 name: tinea unguium alt_id: DOID:10462 alt_id: DOID:11399 alt_id: DOID:11761 alt_id: DOID:12844 alt_id: DOID:12845 alt_id: DOID:12846 alt_id: DOID:12847 alt_id: DOID:12848 alt_id: DOID:13119 alt_id: DOID:9412 alt_id: DOID:9690 alt_id: DOID:9691 def: "A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved." [url:http\://en.wikipedia.org/wiki/Nail_disease, url:http\://en.wikipedia.org/wiki/Onychomycosis] subset: DO_infectious_disease_slim synonym: "cellulitis and abscess" RELATED [] synonym: "cellulitis and abscess of buttock" EXACT [] synonym: "cellulitis and abscess of face" EXACT [] synonym: "cellulitis and abscess of finger" EXACT [] synonym: "cellulitis and abscess of finger and toe" EXACT [] synonym: "cellulitis and abscess of gluteal region" EXACT [] synonym: "cellulitis and abscess of trunk" EXACT [] synonym: "cellulitis and abscess of upper arm and forearm" EXACT [] synonym: "Dermatophytic onychia" EXACT [] synonym: "dermatophytic onychomycosis" EXACT [] synonym: "Dermatophytosis of nail" EXACT [] synonym: "Onychomycosis due to dermatophyte" EXACT [] xref: ICD9CM:681.9 xref: UMLS_CUI:C0007644 is_a: DOID:4123 ! nail disease is_a: DOID:8913 ! dermatophytosis [Term] id: DOID:13076 name: obsolete abdominal actinomycosis def: "An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/14616714] subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:13077 name: obsolete cutaneous actinomycosis def: "An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules." [url:http\://dermatology.cdlib.org/113/case_reports/actinomycosis/fazeli.html, url:http\://en.wikipedia.org/wiki/Cutaneous_actinomycosis] subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:13078 name: eumycotic mycetoma def: "A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules." [url:http\://en.wikipedia.org/wiki/Maduromycosis, url:http\://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Mycetoma/index.html] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "eumycetoma" EXACT [] synonym: "Madura foot" EXACT [] synonym: "maduromycosis" EXACT [] synonym: "Maduromycosis, mycotic" EXACT [] synonym: "Mycotic mycetoma" EXACT [] xref: ICD10CM:B47 xref: MESH:D008271 xref: NCI:C85505 xref: SNOMEDCT_US_2023_03_01:410039003 xref: UMLS_CUI:C0024449 is_a: DOID:1563 ! dermatomycosis [Term] id: DOID:1308 name: obsolete AIDS related complex def: "A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss." [url:http\://chestofbooks.com/health/natural-cure/Ross-Horne/Health-and-Survival-in-the-21st-Century/AIDS-Related-Complex-ARC.html, url:http\://www.medterms.com/script/main/art.asp?articlekey=10924] subset: zoonotic_infectious_disease synonym: "acquired immune deficiency syndrome (& [ARC])" EXACT [] synonym: "AIDS-like syndrome" EXACT [] is_obsolete: true [Term] id: DOID:13080 name: Jaccoud's syndrome def: "An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity." [url:https\://ard.bmj.com/content/57/9/540, url:https\://radiopaedia.org/articles/jaccoud-arthropathy] synonym: "Jaccoud syndrome" EXACT [] xref: ICD10CM:M12.0 xref: ICD9CM:714.4 xref: SNOMEDCT_US_2023_03_01:84801008 xref: UMLS_CUI:C0152084 is_a: DOID:417 ! autoimmune disease [Term] id: DOID:13081 name: hemangioma of subcutaneous tissue subset: NCIthesaurus synonym: "Angioma of the Subcutaneous tissue" EXACT [] synonym: "Subcutaneous haemangioma" EXACT [] synonym: "Subcutaneous hemangioma" EXACT [] xref: NCI:C8540 xref: SNOMEDCT_US_2023_03_01:93473009 xref: UMLS_CUI:C0685200 is_a: DOID:255 ! hemangioma is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:13087 name: Lown-Ganong-Levine syndrome def: "A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles." [url:http\://en.wikipedia.org/wiki/Lown-Ganong-Levine_syndrome] subset: DO_rare_slim synonym: "atrial tachyarrhythmia with short PR interval" EXACT [] synonym: "syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias" EXACT [] xref: ICD10CM:I45.6 xref: ICD9CM:426.81 xref: MESH:D008151 xref: MIM:108950 xref: ORDO:844 xref: SNOMEDCT_US_2023_03_01:55475008 xref: UMLS_CUI:C0024054 is_a: DOID:225 ! syndrome [Term] id: DOID:13088 name: periventricular leukomalacia subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10285 xref: ICD10CM:P91.2 xref: ICD9CM:779.7 xref: MESH:D007969 xref: NCI:C99013 xref: SNOMEDCT_US_2023_03_01:230769007 xref: UMLS_CUI:C0023529 is_a: DOID:2034 ! encephalomalacia [Term] id: DOID:13089 name: intracranial arterial disease xref: MESH:D020765 xref: UMLS_CUI:C0752138 is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:13094 name: branch retinal artery occlusion subset: NCIthesaurus synonym: "Arterial retinal branch occlusion" EXACT [] synonym: "retinal arterial branch occlusion" EXACT [] xref: ICD10CM:H34.23 xref: ICD9CM:362.32 xref: MESH:D015356 xref: NCI:C34436 xref: SNOMEDCT_US_2023_03_01:50821009 xref: UMLS_CUI:C0006123 is_a: DOID:8483 ! retinal artery occlusion [Term] id: DOID:13095 name: vertebral artery insufficiency synonym: "Vertebral artery syndrome" EXACT [] xref: MESH:D014715 xref: UMLS_CUI:C0042560 is_a: DOID:0050828 ! artery disease is_a: DOID:224 ! transient cerebral ischemia is_a: DOID:225 ! syndrome [Term] id: DOID:13096 name: Sneddon syndrome def: "An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11." [url:https\://pubmed.ncbi.nlm.nih.gov/25075847/] subset: DO_rare_slim synonym: "Idiopathic livedo reticularis with systemic involvement" EXACT [] xref: GARD:7664 xref: MESH:D018860 xref: MIM:182410 xref: SNOMEDCT_US_2023_03_01:716745004 xref: UMLS_CUI:C0282492 is_a: DOID:0050828 ! artery disease [Term] id: DOID:13097 name: intracranial arteriosclerosis xref: MESH:D002537 xref: UMLS_CUI:C0007771 is_a: DOID:2349 ! arteriosclerosis [Term] id: DOID:13098 name: central retinal artery occlusion def: "A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery." [url:http\://en.wikipedia.org/wiki/Central_retinal_artery_occlusion] subset: NCIthesaurus xref: ICD10CM:H34.1 xref: ICD9CM:362.31 xref: MESH:D015356 xref: NCI:C34456 xref: SNOMEDCT_US_2023_03_01:38742007 xref: UMLS_CUI:C0007688 is_a: DOID:8483 ! retinal artery occlusion [Term] id: DOID:13099 name: Moyamoya disease def: "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots." [url:http\://en.wikipedia.org/wiki/Moyamoya_disease, url:http\://rarediseases.info.nih.gov/gard/7064/moyamoya-disease/resources/1] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "progressive intracranial arterial occlusion" EXACT [] xref: GARD:7064 xref: ICD10CM:I67.5 xref: ICD9CM:437.5 xref: MESH:D009072 xref: MIM:252350 xref: MIM:300845 xref: MIM:607151 xref: MIM:608796 xref: MIM:614042 xref: MIM:615750 xref: NCI:C84895 xref: ORDO:2573 xref: ORDO:280679 xref: ORDO:401945 xref: SNOMEDCT_US_2023_03_01:69116000 xref: UMLS_CUI:C0026654 is_a: DOID:3527 ! cerebral arterial disease property_value: exactMatch "MESH:D009072" xsd:string [Term] id: DOID:13100 name: intracranial vasospasm xref: MESH:D020301 xref: UMLS_CUI:C0751895 is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:13109 name: bladder leiomyoma def: "A bladder benign neoplasm that derives_from smooth muscle cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532898/] subset: NCIthesaurus synonym: "leiomyoma of the urinary bladder" EXACT [] xref: NCI:C6178 xref: UMLS_CUI:C1332560 is_a: DOID:0050623 ! bladder benign neoplasm is_a: DOID:127 ! leiomyoma [Term] id: DOID:1311 name: obsolete HIV-associated nephropathy def: "A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (greater than 3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia." [url:http\://emedicine.medscape.com/article/246031-overview] subset: zoonotic_infectious_disease synonym: "AIDS nephropathy" EXACT [] synonym: "AIDS-associated nephropathy" EXACT [] synonym: "AIDS-Related nephropathy" EXACT [] is_obsolete: true [Term] id: DOID:13110 name: bladder squamous papilloma subset: NCIthesaurus xref: NCI:C39834 xref: UMLS_CUI:C1511199 is_a: DOID:0050623 ! bladder benign neoplasm [Term] id: DOID:13112 name: mechanical entropion xref: ICD9CM:374.02 xref: SNOMEDCT_US_2023_03_01:38683003 xref: UMLS_CUI:C0155189 is_a: DOID:12397 ! entropion [Term] id: DOID:13113 name: cicatricial entropion xref: ICD9CM:374.04 xref: SNOMEDCT_US_2023_03_01:67383002 xref: UMLS_CUI:C0155191 is_a: DOID:12397 ! entropion [Term] id: DOID:13117 name: paronychia alt_id: DOID:11398 alt_id: DOID:9689 def: "A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate." [url:http\://en.wikipedia.org/wiki/Paronychia] subset: NCIthesaurus synonym: "fungal nail infection" EXACT [] synonym: "Infected nailfold" EXACT [] synonym: "Onychia and paronychia of finger" EXACT [] synonym: "Onychia and paronychia of toe" EXACT [] synonym: "paronychia inflammation" RELATED [] xref: ICD10CM:L03.0 xref: MESH:D010304 xref: NCI:C79702 xref: SNOMEDCT_US_2023_03_01:267830000 xref: UMLS_CUI:C0030578 is_a: DOID:4123 ! nail disease [Term] id: DOID:1312 name: focal segmental glomerulosclerosis alt_id: DOID:3945 comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "FGS" EXACT OMO:0003012 [] synonym: "focal glomerular sclerosis" EXACT [] synonym: "focal glomerulosclerosis" EXACT [] synonym: "FSGS" EXACT OMO:0003012 [] xref: EFO:0004236 xref: GARD:6517 xref: MESH:D005923 xref: MIM:PS603278 xref: NCI:C37308 xref: SNOMEDCT_US_2023_03_01:25821008 xref: UMLS_CUI:C0017668 is_a: DOID:0050851 ! glomerulosclerosis [Term] id: DOID:13120 name: protein-deficiency anemia alt_id: DOID:13121 def: "A nutritional deficiency disease that is characterized by inadequate protein intake." [url:https\://link.springer.com/chapter/10.1007/978-1-4615-7308-1_21] synonym: "Anemia due to protein deficiency" EXACT [] synonym: "deficiency anemia" BROAD [] synonym: "protein-deficiency anaemia" EXACT [] xref: ICD10CM:D53.0 xref: ICD9CM:281.4 xref: SNOMEDCT_US_2023_03_01:85746008 xref: UMLS_CUI:C0154290 is_a: DOID:2355 ! anemia is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:13121 name: obsolete deficiency anemia comment: redundant parent term[LS]. synonym: "deficiency anemias" EXACT [] xref: ICD9CM:281.9 xref: SNOMEDCT_US_2023_03_01:191125001 xref: UMLS_CUI:C0041782 is_obsolete: true replaced_by: DOID:13120 [Term] id: DOID:13127 name: gonococcal spondylitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease xref: ICD9CM:098.53 xref: SNOMEDCT_US_2023_03_01:186929006 xref: UMLS_CUI:C0153219 is_a: DOID:6590 ! spondylitis [Term] id: DOID:13129 name: severe pre-eclampsia alt_id: DOID:13130 alt_id: DOID:13131 alt_id: DOID:13132 def: "A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25373431, url:https\://www.ncbi.nlm.nih.gov/pubmed/28793357] synonym: "antepartum severe pre-eclampsia" EXACT [] synonym: "postpartum severe pre-eclampsia" EXACT [] synonym: "Severe pre-eclampsia, with delivery" EXACT [] synonym: "severe preeclampsia" EXACT [] xref: ICD9CM:642.50 xref: UMLS_CUI:C0156669 is_a: DOID:10591 ! pre-eclampsia [Term] id: DOID:1313 name: obsolete HIV wasting syndrome def: "An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." [url:http\://en.wikipedia.org/wiki/AIDS_wasting_syndrome, url:http\://www.aidsinfonet.org/fact_sheets/view/519] subset: zoonotic_infectious_disease synonym: "AIDS wasting syndrome" RELATED [] synonym: "Human immunodeficiency virus infection wasting syndrome" EXACT [] is_obsolete: true [Term] id: DOID:13133 name: HELLP syndrome def: "A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24400024, url:https\://www.ncbi.nlm.nih.gov/pubmed/25879992] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:8528 xref: ICD10CM:O14.2 xref: MESH:D017359 xref: NCI:C84750 xref: SNOMEDCT_US_2023_03_01:95605009 xref: UMLS_CUI:C0162739 is_a: DOID:13129 ! severe pre-eclampsia [Term] id: DOID:13134 name: hordeolum externum def: "A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll." [url:http\://en.wikipedia.org/wiki/Stye] synonym: "external stye" EXACT [] xref: ICD10CM:H00.01 xref: ICD9CM:373.11 xref: SNOMEDCT_US_2023_03_01:1489008 xref: UMLS_CUI:C0019919 is_a: DOID:9423 ! blepharitis [Term] id: DOID:13135 name: exophthalmic ophthalmoplegia xref: ICD9CM:376.22 xref: SNOMEDCT_US_2023_03_01:69763009 xref: UMLS_CUI:C0152135 is_a: DOID:539 ! ophthalmoplegia [Term] id: DOID:13137 name: Werdnig-Hoffmann disease def: "A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=10700541] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "hereditary motor neuropathy proximal type I" EXACT [] synonym: "HMN (Hereditary motor Neuropathy) Proximal type I" EXACT [] synonym: "infantile muscular atrophy" EXACT [] synonym: "progressive muscular atrophy of infancy" EXACT [] synonym: "SMA1" EXACT OMO:0003012 [] synonym: "Spinal muscular atrophy 1" EXACT [] xref: GARD:7883 xref: ICD10CM:G12.0 xref: ICD9CM:335.0 xref: MESH:D014897 xref: MIM:253300 xref: NCI:C98670 xref: SNOMEDCT_US_2023_03_01:64383006 xref: UMLS_CUI:C0043116 is_a: DOID:0060160 ! childhood spinal muscular atrophy [Term] id: DOID:13138 name: acute proliferative glomerulonephritis synonym: "acute glomerulonephritis with lesion of proliferative glomerulonephritis" EXACT [] xref: ICD9CM:580.0 xref: SNOMEDCT_US_2023_03_01:197579006 xref: UMLS_CUI:C0341692 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:13139 name: crescentic glomerulonephritis subset: NCIthesaurus xref: NCI:C128143 xref: SNOMEDCT_US_2023_03_01:45406000 xref: UMLS_CUI:C0403416 is_a: DOID:13138 ! acute proliferative glomerulonephritis [Term] id: DOID:1314 name: obsolete wasting syndrome synonym: "Wasting disease" EXACT [] synonym: "Wasting disease (context-dependent category)" EXACT [] synonym: "Wasting disease (disorder)" EXACT [] synonym: "Wasting disease, NOS" EXACT [] is_obsolete: true [Term] id: DOID:13140 name: suppurative uveitis def: "A uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and has_symptom pain, blurry vision, and eye redness. Suppurative uveitis is typically caused by infection, especially by bacterial infection post-operatively or post-traumatically." [url:https\://www.djo.org.in/articles/26/4/uveitis-classification1.html, url:https\://www.slideshare.net/Jihajie/uveitis-56740528] xref: MESH:D015829 xref: UMLS_CUI:C0042168 is_a: DOID:13141 ! uveitis [Term] id: DOID:13141 name: uveitis def: "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid." [url:https\://www.mayoclinic.org/diseases-conditions/uveitis/symptoms-causes/syc-20378734] subset: NCIthesaurus xref: ICD10CM:H20.9 xref: MESH:D014605 xref: NCI:C26909 xref: SNOMEDCT_US_2023_03_01:267719008 xref: UMLS_CUI:C0042164 is_a: DOID:3480 ! uveal disease [Term] id: DOID:13143 name: benign secondary hypertension subset: NCIthesaurus xref: ICD9CM:405.1 xref: NCI:C3658 xref: SNOMEDCT_US_2023_03_01:44111003 xref: UMLS_CUI:C0155620 is_a: DOID:11130 ! secondary hypertension [Term] id: DOID:13145 name: benign renovascular hypertension def: "A benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and has_material_basis_in renal artery stenosis." [url:https\://medlineplus.gov/ency/article/000204.htm] xref: ICD9CM:405.11 xref: UMLS_CUI:C0155621 is_a: DOID:1073 ! renal hypertension is_a: DOID:13143 ! benign secondary hypertension [Term] id: DOID:13146 name: esophageal candidiasis def: "A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain." [url:http\://en.wikipedia.org/wiki/Esophageal_candidiasis] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Candida Esophagitis" EXACT [] synonym: "Candidal esophagitis" EXACT [] synonym: "Candidiasis of the esophagus" EXACT [] synonym: "esophageal moniliasis" EXACT [] synonym: "esophageal thrush" EXACT [] xref: ICD10CM:B37.81 xref: ICD9CM:112.84 xref: NCI:C27027 xref: SNOMEDCT_US_2023_03_01:20639004 xref: UMLS_CUI:C0239295 is_a: DOID:1508 ! candidiasis is_a: DOID:6050 ! esophageal disease [Term] id: DOID:13147 name: fungal esophagitis subset: DO_infectious_disease_slim subset: NCIthesaurus xref: NCI:C27107 xref: SNOMEDCT_US_2023_03_01:235602008 xref: UMLS_CUI:C0341109 is_a: DOID:11963 ! esophagitis is_a: DOID:1564 ! fungal infectious disease [Term] id: DOID:13148 name: acute cystitis def: "A cystitis characterized by a sudden onset or severe symptoms." [url:http\://en.wikipedia.org/wiki/Urinary_tract_infection] subset: NCIthesaurus xref: ICD10CM:N30.0 xref: ICD9CM:595.0 xref: NCI:C26934 xref: SNOMEDCT_US_2023_03_01:197833009 xref: UMLS_CUI:C0149523 is_a: DOID:1679 ! cystitis [Term] id: DOID:13149 name: obsolete tuberculous lung fibrosis def: "A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred)." [url:http\://www.nhlbi.nih.gov/health/dci/Diseases/ipf/ipf_whatis.html] subset: gram-positive_bacterial_infectious_disease synonym: "Tuberculous Fibrosis of lung" EXACT [] synonym: "Tuberculous fibrosis of lung (disorder)" EXACT [] synonym: "Tuberculous fibrosis of lung, unspecified examination" EXACT [] is_obsolete: true [Term] id: DOID:13157 name: obsolete sensory disorder of eyelid synonym: "Sensory disorder of eyelid" EXACT [] synonym: "Sensory disorder of eyelid (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13159 name: scrotum squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the scrotum." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26113906] subset: NCIthesaurus synonym: "Scrotal squamous cell carcinoma" EXACT [] xref: NCI:C4643 xref: SNOMEDCT_US_2023_03_01:276860003 xref: UMLS_CUI:C0349551 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:3445 ! scrotal carcinoma [Term] id: DOID:13160 name: scrotum melanoma subset: NCIthesaurus synonym: "melanoma of scrotum" EXACT [] xref: NCI:C7361 xref: UMLS_CUI:C1331544 is_a: DOID:1909 ! melanoma is_a: DOID:518 ! scrotum neoplasm [Term] id: DOID:13164 name: obsolete Bordetella pertussis pneumonia def: "A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing." [url:http\://en.wikipedia.org/wiki/Pertussis, url:http\://www.merck.com/mmhe/sec23/ch272/ch272g.html?qt=pertussis%20pneumonia&alt=sh] subset: gram-negative_bacterial_infectious_disease synonym: "Pertussis pneumonia" EXACT [] synonym: "Pneumonia in whooping cough" EXACT [] is_obsolete: true [Term] id: DOID:13165 name: obsolete Aspergillus pneumonia def: "An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever." [url:http\://www.merck.com/mmhe/sec04/ch051/ch051d.html, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/15735246] synonym: "Pneumonia in aspergillosis" EXACT [] is_obsolete: true [Term] id: DOID:13166 name: allergic bronchopulmonary aspergillosis def: "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever." [url:http\://www.merck.com/mmhe/sec04/ch051/ch051d.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000070.htm] {comment="ls:IEDB"} comment: OMIM mapping confirmed by DO. [SN]. subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "pulmonary aspergillus disease" EXACT [] xref: GARD:602 xref: ICD10CM:B44.81 xref: ICD9CM:518.6 xref: MESH:D001229 xref: MIM:103920 xref: NCI:C84547 xref: SNOMEDCT_US_2023_03_01:37981002 xref: UMLS_CUI:C0004031 is_a: DOID:0060496 ! respiratory allergy is_a: DOID:13564 ! aspergillosis [Term] id: DOID:13168 name: prepuce cancer synonym: "malignant neoplasm of foreskin" EXACT [] synonym: "malignant tumor of foreskin" EXACT [] xref: ICD10CM:C60.0 xref: ICD9CM:187.1 xref: SNOMEDCT_US_2023_03_01:93805009 xref: UMLS_CUI:C0153598 is_a: DOID:4159 ! skin cancer [Term] id: DOID:13169 name: spermatic cord cancer subset: NCIthesaurus synonym: "malignant tumor of spermatic cord" EXACT [] synonym: "malignant tumor of the Spermatic Cord" EXACT [] synonym: "Spermatic cord Ca" EXACT [] xref: ICD10CM:C63.1 xref: ICD9CM:187.6 xref: NCI:C3559 xref: SNOMEDCT_US_2023_03_01:94065000 xref: UMLS_CUI:C0153603 is_a: DOID:3856 ! male reproductive organ cancer [Term] id: DOID:13174 name: dissociated nystagmus xref: ICD10CM:H55.04 xref: ICD9CM:379.55 xref: MESH:D009759 xref: SNOMEDCT_US_2023_03_01:9520006 xref: UMLS_CUI:C0155380 is_a: DOID:9650 ! pathologic nystagmus [Term] id: DOID:13175 name: obsolete female genital tuberculosis subset: gram-positive_bacterial_infectious_disease synonym: "Tuberculosis of female genital organs" RELATED [] is_obsolete: true [Term] id: DOID:13177 name: obsolete chronic erythremia in remission is_obsolete: true [Term] id: DOID:13185 name: esophageal diverticulosis xref: MESH:D045723 xref: UMLS_CUI:C0917875 is_a: DOID:6050 ! esophageal disease [Term] id: DOID:13186 name: megaesophagus subset: NCIthesaurus xref: MESH:D004931 xref: NCI:C34811 xref: SNOMEDCT_US_2023_03_01:70667005 xref: UMLS_CUI:C0025164 is_a: DOID:6050 ! esophageal disease [Term] id: DOID:13189 name: gout alt_id: DOID:14144 def: "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint." [url:http\://en.wikipedia.org/wiki/Gout, url:http\://www.mayoclinic.com/health/gout/DS00090, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000422.htm] subset: NCIthesaurus synonym: "Articular gout" EXACT [] synonym: "gouty arthritis" EXACT [] synonym: "Gouty arthropathy" EXACT [] xref: EFO:0004274 xref: ICD10CM:M10 xref: ICD9CM:274 xref: ICD9CM:274.0 xref: MESH:D006073 xref: MESH:D015210 xref: NCI:C34650 xref: SNOMEDCT_US_2023_03_01:201661008 xref: SNOMEDCT_US_2023_03_01:90560007 xref: UMLS_CUI:C0003868 xref: UMLS_CUI:C0018099 is_a: DOID:848 ! arthritis [Term] id: DOID:1319 name: brain cancer alt_id: DOID:2125 alt_id: DOID:2126 alt_id: DOID:3543 alt_id: DOID:6649 alt_id: DOID:911 def: "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." [url:http\://www.cancer.gov/dictionary?CdrID=387264] subset: DO_cancer_slim subset: DO_CFDE_slim subset: DO_FlyBase_slim subset: DO_RAD_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "adult brain tumor" EXACT [] synonym: "adult malignant brain neoplasm" EXACT [] synonym: "brain neoplasm" EXACT [] synonym: "brain neoplasm, adult" EXACT [] synonym: "BT - Brain tumour" EXACT [] synonym: "malignant brain tumour" EXACT [] synonym: "malignant primary brain neoplasm" EXACT [] synonym: "malignant primary brain tumor" EXACT [] synonym: "malignant tumor of adult brain" EXACT [] synonym: "malignant tumor of Brain" EXACT [] synonym: "neoplasm of brain" EXACT [] synonym: "primary brain neoplasm" EXACT [] synonym: "primary brain tumor" EXACT [] synonym: "primary malignant neoplasm of brain" EXACT [] synonym: "tumor of the Brain" EXACT [] xref: ICD10CM:C71 xref: ICD9CM:191 xref: ICD9CM:239.6 xref: MESH:D001932 xref: NCI:C170814 xref: NCI:C2907 xref: NCI:C3568 xref: NCI:C5115 xref: NCI:C7710 xref: SNOMEDCT_US_2023_03_01:126952004 xref: SNOMEDCT_US_2023_03_01:428061005 xref: SNOMEDCT_US_2023_03_01:93727008 xref: UMLS_CUI:C0006118 xref: UMLS_CUI:C0153633 xref: UMLS_CUI:C0220624 xref: UMLS_CUI:C0750974 xref: UMLS_CUI:C0750979 xref: UMLS_CUI:C1334557 is_a: DOID:3620 ! central nervous system cancer is_a: DOID:936 ! brain disease [Term] id: DOID:13192 name: obsolete pulmonary congestion and hypostasis synonym: "pulmonary congestion and hypostasis (disorder)" EXACT [] synonym: "pulmonary congestion and hypostasis NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13194 name: obsolete non-toxic nodular goiter synonym: "Non-toxic nodular Goiter" EXACT [] synonym: "Non-toxic nodular goiter (disorder)" EXACT [] synonym: "Non-toxic nodular goiter NOS (disorder)" EXACT [] synonym: "Non-toxic nodular goitre" EXACT [] synonym: "Nontoxic nodular goiter" EXACT [] synonym: "Nontoxic nodular goiter NOS" EXACT [] synonym: "Nontoxic nodular goitre NOS" EXACT [] synonym: "Unspecified nontoxic nodular goiter" EXACT [] is_obsolete: true [Term] id: DOID:13195 name: nontoxic goiter subset: NCIthesaurus synonym: "Goiter, non-toxic" EXACT [] synonym: "Goitre, non-toxic" EXACT [] synonym: "Nodule-thyroid, non tox" EXACT [] synonym: "Non-toxic goitre" EXACT [] synonym: "Non-toxic simple goitre" EXACT [] xref: ICD10CM:E04.9 xref: NCI:C35271 xref: SNOMEDCT_US_2023_03_01:267369002 xref: UMLS_CUI:C0221777 is_a: DOID:12176 ! goiter [Term] id: DOID:13196 name: lingual goiter xref: MESH:D047268 xref: SNOMEDCT_US_2023_03_01:75667007 xref: UMLS_CUI:C0271760 is_a: DOID:12176 ! goiter [Term] id: DOID:13197 name: nodular goiter subset: NCIthesaurus synonym: "Goiter, nodular" EXACT [] synonym: "nodular goitre" EXACT [] xref: MESH:D006044 xref: NCI:C131437 xref: SNOMEDCT_US_2023_03_01:237570007 xref: UMLS_CUI:C0018023 is_a: DOID:12176 ! goiter [Term] id: DOID:13198 name: endemic goiter def: "A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency." [url:https\://medicalguidelines.msf.org/viewport/CG/english/endemic-goitre-and-iodine-deficiency-18482487.html] subset: NCIthesaurus synonym: "Iodine-deficiency-related endemic goitre" EXACT [] synonym: "simple goitre" EXACT [] xref: ICD10CM:E01.2 xref: ICD9CM:240.0 xref: MESH:D006043 xref: NCI:C35023 xref: SNOMEDCT_US_2023_03_01:271949009 xref: UMLS_CUI:C0018022 is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:13200 name: substernal goiter synonym: "Retrosternal thyroid goiter" EXACT [] synonym: "Retrosternal thyroid goitre" EXACT [] synonym: "substernal goitre" EXACT [] xref: MESH:D006045 xref: SNOMEDCT_US_2023_03_01:66392007 xref: UMLS_CUI:C0018024 is_a: DOID:12176 ! goiter [Term] id: DOID:13202 name: obsolete secondary syphilitic iridocyclitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "secondary syphilitic iridocyclitis (disorder)" EXACT [] synonym: "Syphilitic iridocyclitis (secondary)" EXACT [] is_obsolete: true [Term] id: DOID:13206 name: nodular prostate alt_id: DOID:13220 alt_id: DOID:13225 xref: ICD10CM:N40 xref: ICD9CM:600.1 xref: UMLS_CUI:C0748012 is_a: DOID:11132 ! prostatic hypertrophy [Term] id: DOID:13207 name: proliferative diabetic retinopathy subset: NCIthesaurus synonym: "PDR" EXACT OMO:0003012 [] xref: ICD9CM:362.02 xref: NCI:C84457 xref: SNOMEDCT_US_2023_03_01:154679002 xref: UMLS_CUI:C0154830 is_a: DOID:8947 ! diabetic retinopathy [Term] id: DOID:13208 name: background diabetic retinopathy subset: NCIthesaurus synonym: "Non proliferative diabetic retinopathy" EXACT [] synonym: "Non-Proliferative Diabetic Retinopathy" EXACT [] xref: ICD9CM:362.03 xref: NCI:C35668 xref: SNOMEDCT_US_2023_03_01:390834004 xref: UMLS_CUI:C0004606 is_a: DOID:8947 ! diabetic retinopathy [Term] id: DOID:13209 name: right bundle branch block synonym: "Right bundle branch block with left posterior fascicular block" EXACT [] xref: ICD9CM:426.51 xref: SNOMEDCT_US_2023_03_01:46319007 xref: UMLS_CUI:C0155704 is_a: DOID:10273 ! heart conduction disease [Term] id: DOID:13211 name: obsolete secondary malignant neoplasm of brain and spinal cord synonym: "secondary malignant neoplasm of brain and spinal cord (disorder)" EXACT [] synonym: "secondary malignant neoplasm of brain or spinal cord NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13212 name: obsolete metastasis to skin synonym: "metastasis to skin" EXACT [] synonym: "metastatic skin carcinoma" EXACT [] synonym: "metastatic tumor to the skin" EXACT [] synonym: "secondary malignant neoplasm of skin" EXACT [] synonym: "secondary malignant neoplasm of skin (disorder)" EXACT [] synonym: "secondary malignant neoplasm of skin NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13213 name: obsolete metastatic cancer to the breast synonym: "metastatic tumor to the breast" EXACT [] synonym: "secondary malignant neoplasm of breast" EXACT [] synonym: "secondary malignant neoplasm of female breast (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13214 name: hole retinal cyst synonym: "Macular cyst or hole" EXACT [] synonym: "Macular cyst, hole, or pseudohole of retina" EXACT [] synonym: "Macular pseudohole retinal cyst" EXACT [] xref: ICD10CM:H35.34 xref: ICD9CM:362.54 xref: SNOMEDCT_US_2023_03_01:193388002 xref: UMLS_CUI:C1261331 is_a: DOID:2007 ! degeneration of macula and posterior pole [Term] id: DOID:13219 name: obsolete transsexuality with heterosexual history synonym: "Trans-sexualism with heterosexual history" EXACT [] synonym: "Transsexuality with heterosexual history (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13222 name: submucous uterine fibroid def: "An uterine fibroid that is located adjacent to the lining of the uterus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25177608] synonym: "Submucous leiomyoma of uterus" EXACT [] xref: ICD10CM:D25.0 xref: ICD9CM:218.0 xref: SNOMEDCT_US_2023_03_01:95279007 xref: UMLS_CUI:C0153993 is_a: DOID:13223 ! uterine fibroid [Term] id: DOID:13223 name: uterine fibroid def: "An uterine benign neoplasm derived from the smooth muscle layer of the uterus." [url:http\://en.wikipedia.org/wiki/Uterine_fibroid, url:http\://www.nlm.nih.gov/medlineplus/uterinefibroids.html] comment: OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus synonym: "leiomyoma of Corpus Uteri" EXACT [] synonym: "Plexiform leiomyoma" EXACT [] synonym: "uterine leiomyoma" EXACT [] synonym: "UTERUS FIBROMA" EXACT [] xref: EFO:0000731 xref: ICD10CM:D25 xref: ICD9CM:218 xref: MESH:D007889 xref: MIM:150699 xref: NCI:C3434 xref: SNOMEDCT_US_2023_03_01:44598004 xref: UMLS_CUI:C0042133 is_a: DOID:0060095 ! uterine benign neoplasm [Term] id: DOID:13224 name: obsolete introverted personality is_obsolete: true [Term] id: DOID:13226 name: oculoglandular tularemia def: "A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear." [url:http\://www.cdc.gov/tularemia/signssymptoms/] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease xref: ICD10CM:A21.1 xref: ICD9CM:021.3 xref: SNOMEDCT_US_2023_03_01:73363000 xref: UMLS_CUI:C0152944 is_a: DOID:2123 ! tularemia [Term] id: DOID:13227 name: retinal dystrophies primarily involving Bruch's membrane synonym: "retinal dystrophies primarily involving Bruch membrane" EXACT [] xref: ICD9CM:362.77 xref: UMLS_CUI:C0154866 is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:1323 name: obsolete malignant neoplasm of trachea, bronchus and lung synonym: "malignant neoplasm of trachea, bronchus and lung (disorder)" EXACT [] synonym: "malignant neoplasm of trachea, bronchus, and lung" EXACT [] is_obsolete: true [Term] id: DOID:13232 name: obsolete Diffuse cholesteatosis of middle ear and mastoid is_obsolete: true [Term] id: DOID:13238 name: Haverhill fever def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain." [url:https\://en.wikipedia.org/wiki/Haverhill_fever] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Streptobacillary fever" EXACT [] synonym: "Streptobacillary rat-bite fever" RELATED [] synonym: "Streptobacillosis" RELATED [] xref: ICD10CM:A25.1 xref: ICD9CM:026.1 xref: SNOMEDCT_US_2023_03_01:52138004 xref: UMLS_CUI:C0152063 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:13239 name: internal pathological resorption xref: ICD9CM:521.41 xref: UMLS_CUI:C1456167 is_a: DOID:13240 ! tooth resorption [Term] id: DOID:1324 name: lung cancer alt_id: DOID:13075 alt_id: DOID:1322 alt_id: DOID:9881 def: "A respiratory system cancer that is located_in the lung." [url:http\://en.wikipedia.org/wiki/Lung_cancer] subset: DO_cancer_slim subset: DO_CFDE_slim subset: TopNodes_DOcancerslim synonym: "lung neoplasm" RELATED [] xref: ICD10CM:C34.1 xref: ICD10CM:C34.2 xref: ICD10CM:C34.3 xref: ICD9CM:162.3 xref: ICD9CM:162.4 xref: ICD9CM:162.5 xref: ICD9CM:162.8 xref: MIM:211980 xref: MIM:608935 xref: MIM:612571 xref: MIM:612593 xref: MIM:614210 xref: SNOMEDCT_US_2023_03_01:187860004 xref: SNOMEDCT_US_2023_03_01:187864008 xref: SNOMEDCT_US_2023_03_01:187868006 xref: SNOMEDCT_US_2023_03_01:187874006 xref: UMLS_CUI:C0024624 xref: UMLS_CUI:C0153491 xref: UMLS_CUI:C0153492 xref: UMLS_CUI:C0153493 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:850 ! lung disease [Term] id: DOID:13240 name: tooth resorption xref: ICD10CM:K03.3 xref: ICD9CM:521.4 xref: MESH:D014091 xref: SNOMEDCT_US_2023_03_01:70931000 xref: UMLS_CUI:C0040451 is_a: DOID:214 ! teeth hard tissue disease property_value: exactMatch "MESH:D014091" xsd:string [Term] id: DOID:13241 name: Behcet's disease def: "A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis." [url:http\://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease, url:http\://www.nlm.nih.gov/medlineplus/behcetssyndrome.html] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Adamantiades-Behcet disease" EXACT [] synonym: "Behcet syndrome" EXACT [] synonym: "Behcet's syndrome" RELATED [] synonym: "Behet's syndrome" EXACT [] synonym: "triple symptom complex" EXACT [] xref: EFO:0003780 xref: GARD:848 xref: ICD10CM:M35.2 xref: ICD9CM:136.1 xref: MESH:D001528 xref: MIM:109650 xref: NCI:C34416 xref: SNOMEDCT_US_2023_03_01:310701003 xref: UMLS_CUI:C0004943 is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:865 ! vasculitis [Term] id: DOID:13248 name: mucocele of appendix subset: NCIthesaurus synonym: "Appendicele Mucocele" EXACT [] xref: NCI:C3241 xref: SNOMEDCT_US_2023_03_01:53773002 xref: UMLS_CUI:C0026684 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:13249 name: pneumatosis cystoides intestinalis xref: MESH:D011006 xref: SNOMEDCT_US_2023_03_01:17465007 xref: UMLS_CUI:C0032266 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:1325 name: bronchus cancer def: "A respiratory system cancer that is located_in the bronchus." [url:http\://en.wikipedia.org/wiki/Bronchus] synonym: "malignant neoplasm of bronchus and lung" EXACT [] synonym: "malignant neoplasm of bronchus or lung" EXACT [] xref: ICD10CM:C34 xref: ICD9CM:162.9 xref: SNOMEDCT_US_2023_03_01:187875007 xref: UMLS_CUI:C0348343 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:1176 ! bronchial disease [Term] id: DOID:13250 name: diarrhea alt_id: DOID:0050006 def: "A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea." [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea] comment: diarrhea is both a disease and a symptom [ms] subset: GOLD synonym: "diarrhea of presumed infectious origin" RELATED [] synonym: "diarrhoea" RELATED [] xref: ICD9CM:009.2 xref: MESH:D004403 xref: SNOMEDCT_US_2023_03_01:154268000 xref: UMLS_CUI:C0013369 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:13251 name: obsolete HIV enteropathy def: "A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777614/pdf/nihms-156875.pdf] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:13252 name: mesenteric vascular occlusion xref: MESH:D008641 xref: UMLS_CUI:C0025472 is_a: DOID:341 ! peripheral vascular disease [Term] id: DOID:13253 name: obsolete jejunal disease is_obsolete: true [Term] id: DOID:13254 name: diverticulitis of colon alt_id: DOID:10757 def: "A colonic disease characterized by the formation and inflammation of diverticula within the colon wall." [url:https\://en.wikipedia.org/wiki/Diverticulitis] synonym: "colonic diverticular disease" EXACT [] xref: MESH:D004239 xref: SNOMEDCT_US_2023_03_01:111359004 xref: UMLS_CUI:C0012814 is_a: DOID:5353 ! colonic disease is_a: DOID:7475 ! diverticulitis [Term] id: DOID:13257 name: obsolete Histoplasma duboisii endocarditis def: "An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions." [url:http\://emedicine.medscape.com/article/299054-overview] synonym: "Histoplasma duboisii with endocarditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13258 name: typhoid fever alt_id: DOID:3054 def: "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." [url:http\://www.merriam-webster.com/medlineplus/typhoid%20fever] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus synonym: "Typhoid" EXACT [] xref: GARD:9564 xref: ICD10CM:A01.0 xref: ICD9CM:002.0 xref: MESH:D014435 xref: NCI:C35089 xref: SNOMEDCT_US_2023_03_01:186091002 xref: UMLS_CUI:C0041466 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:13262 name: obsolete hallucinatory state induced by drug synonym: "Drug-induced hallucinatory state" EXACT [] synonym: "Drug-induced hallucinosis (disorder)" EXACT [] synonym: "Drug-induced psychotic disorder with hallucinations" EXACT [] is_obsolete: true [Term] id: DOID:13268 name: porphyria def: "An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins." [url:http\://en.wikipedia.org/wiki/Porphyria#Subtypes] subset: DO_rare_slim subset: NCIthesaurus synonym: "disorder of porphyrin and hem metabolism" EXACT [] synonym: "disorder of porphyrin metabolism" EXACT [] synonym: "Hematoporphyria" EXACT [] synonym: "Porphyrinopathy" EXACT [] xref: GARD:10353 xref: ICD10CM:E80.20 xref: ICD9CM:277.1 xref: MESH:D011164 xref: NCI:C97096 xref: SNOMEDCT_US_2023_03_01:190912004 xref: UMLS_CUI:C0032708 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:13269 name: hereditary coproporphyria comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Coproporphyrinogen oxidase deficiency" EXACT [] synonym: "hereditary coproporphyria porphyria" EXACT [] xref: GARD:6619 xref: ICD10CM:E80.29 xref: MESH:D046349 xref: MIM:121300 xref: NCI:C84759 xref: SNOMEDCT_US_2023_03_01:7425008 xref: UMLS_CUI:C0162531 is_a: DOID:0080578 ! digenic disease is_a: DOID:3133 ! acute porphyria [Term] id: DOID:13270 name: erythropoietic protoporphyria def: "An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue." [url:http\://en.wikipedia.org/wiki/Erythropoietic_protoporphyria] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "EPP" EXACT OMO:0003012 [] synonym: "Protoporphyria" EXACT [] xref: GARD:4527 xref: ICD10CM:E80.0 xref: MESH:D046351 xref: MIM:177000 xref: MIM:300752 xref: NCI:C84698 xref: ORDO:79278 xref: SNOMEDCT_US_2023_03_01:51022005 xref: UMLS_CUI:C0162568 is_a: DOID:3133 ! acute porphyria [Term] id: DOID:13271 name: cutaneous porphyria comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Erythropoietic porphyria" EXACT [] xref: GARD:4446 xref: ICD10CM:E80.0 xref: MESH:D017092 xref: MIM:263700 xref: NCI:C84697 xref: SNOMEDCT_US_2023_03_01:67312003 xref: UMLS_CUI:C0162530 is_a: DOID:13268 ! porphyria is_a: DOID:37 ! skin disease [Term] id: DOID:13272 name: Klebsiella pneumonia def: "A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis." [url:http\://en.wikipedia.org/wiki/Klebsiella_pneumonia, url:https\://www.ncbi.nlm.nih.gov/pubmed/1555037] subset: DO_IEDB_slim subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease synonym: "Pneumonia due to Klebsiella pneumoniae" EXACT [] synonym: "Pneumonia due to Klebsiella pneumoniae (disorder)" EXACT [] xref: ICD10CM:J15.0 xref: ICD9CM:482.0 xref: MESH:D007710 is_a: DOID:874 ! bacterial pneumonia [Term] id: DOID:13273 name: obsolete Escherichia coli pneumonia def: "A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages." [url:http\://books.google.com/books?id=kD9VZ267wDEC&pg=PA314&lpg#v=onepage&q=&f=false] subset: gram-negative_bacterial_infectious_disease synonym: "Pneumonia due to escherichia coli" EXACT [] synonym: "pneumonia due to escherichia coli" EXACT [] synonym: "Pneumonia due to Escherichia coli (disorder)" EXACT [] synonym: "Pneumonia due to escherichia coli [E. coli]" EXACT [] is_obsolete: true [Term] id: DOID:13274 name: obsolete enzootic pneumonia of calves def: "A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms." [url:http\://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121207.htm] synonym: "Enzootic pneumonia of calves (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13275 name: obsolete rickettsial pneumonia def: "A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema." [url:http\://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg#v=onepage&q=&f=false] subset: gram-negative_bacterial_infectious_disease synonym: "Rickettsial pneumonia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13276 name: Mycoplasma pneumoniae pneumonia def: "A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." [url:http\://en.wikipedia.org/wiki/Pneumonia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000082.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/20632053] subset: DO_IEDB_slim subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease synonym: "cold agglutinin positive pneumonia" EXACT [] synonym: "Mycoplasma pneumonia" EXACT [] synonym: "Mycoplasmal pneumonia" EXACT [] synonym: "Pneumonia due to Eaton's agent" EXACT [] synonym: "Pneumonia due to Mycoplasma pneumoniae" EXACT [] synonym: "Pneumonia due to Mycoplasma pneumoniae (disorder)" EXACT [] xref: ICD10CM:J15.7 xref: ICD9CM:483.0 xref: MESH:D011019 is_a: DOID:874 ! bacterial pneumonia [Term] id: DOID:13277 name: obsolete Mycoplasma hyopneumoniae pneumonia def: "A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough." [url:http\://books.google.com/books?id=Ye48iZa98r0C&pg=PA194&lpg#v=onepage&q=&f=false] subset: gram-negative_bacterial_infectious_disease synonym: "mycoplasmal pneumonia of swine" EXACT [] is_obsolete: true [Term] id: DOID:13278 name: obsolete Salmonella pneumonia def: "A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation." [url:http\://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA422&lpg#v=onepage&q=&f=false] subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Salmonella pneumonia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1328 name: Rift Valley fever def: "A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/rvf/rvf_qa.htm, url:http\://www.who.int/mediacentre/factsheets/fs207/en/] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: zoonotic_infectious_disease xref: ICD10CM:A92.4 xref: MESH:D012295 xref: NCI:C128419 xref: SNOMEDCT_US_2023_03_01:7077006 xref: UMLS_CUI:C0035613 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:13282 name: intestinal tuberculosis def: "A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting." [url:http\://smj.sma.org.sg/5006/5006pe1.pdf] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease synonym: "tuberculosis of intestine" EXACT [] xref: ICD9CM:014.8 xref: UMLS_CUI:C0152724 is_a: DOID:404 ! gastrointestinal tuberculosis is_a: DOID:5295 ! intestinal disease [Term] id: DOID:13285 name: obsolete enteroinvasive Escherichia coli infectious disease def: "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever." [url:http\://www.textbookofbacteriology.net/e.coli_4.html] subset: gram-negative_bacterial_infectious_disease synonym: "Enteroinvasive Escherichia coli gastrointestinal tract infection" EXACT [] synonym: "Enteroinvasive Escherichia coli gastrointestinal tract infection (disorder)" EXACT [] synonym: "intestinal infectious disease due to enteroinvasive E. coli" EXACT [] is_obsolete: true [Term] id: DOID:13295 name: crater-like holes of optic disc synonym: "Crater-like optic disc holes" EXACT [] xref: ICD9CM:377.22 xref: SNOMEDCT_US_2023_03_01:19148004 xref: UMLS_CUI:C0155298 is_a: DOID:1393 ! visual pathway disease [Term] id: DOID:133 name: vaginal Mullerian papilloma def: "A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26948653] subset: NCIthesaurus synonym: "vaginal Muellerian papilloma" EXACT [] xref: NCI:C40255 xref: UMLS_CUI:C1519926 is_a: DOID:0060114 ! vaginal benign neoplasm [Term] id: DOID:13300 name: Scheuermann's disease def: "An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column." [url:http\://en.wikipedia.org/wiki/Scheuermann%27s_disease, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Scheuermann%27s%20disease] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Juvenile osteochondritis of the spine" EXACT [] synonym: "Juvenile osteochondrosis of Scheurermann" EXACT [] synonym: "Juvenile osteochondrosis of spine" EXACT [] synonym: "Scheuermann disease" NARROW [] synonym: "Scheuermann's kyphosis" EXACT [] synonym: "Sherman's Disease" EXACT [] xref: GARD:7610 xref: ICD10CM:M42.0 xref: ICD9CM:732.0 xref: MESH:D012544 xref: MIM:181440 xref: NCI:C34999 xref: SNOMEDCT_US_2023_03_01:53406005 xref: UMLS_CUI:C0036310 is_a: DOID:0060564 ! spinal disease is_a: DOID:8125 ! osteochondrosis [Term] id: DOID:13305 name: obsolete anterior nasal diphtheria def: "A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy." [url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/dip.pdf] subset: gram-positive_bacterial_infectious_disease synonym: "Anterior nasal diphtheria" EXACT [] synonym: "Anterior nasal diphtheria (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13306 name: diphtheritic cystitis def: "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder." [url:http\://books.google.com/books?id=qpCgt_azaBcC&pg=PA191&lpg=PA191&dq#v=onepage&q=&f=false, url:https\://www.ncbi.nlm.nih.gov/pubmed/18889690] xref: ICD10CM:A36.85 xref: ICD9CM:032.84 xref: SNOMEDCT_US_2023_03_01:197847008 xref: UMLS_CUI:C0152954 is_a: DOID:1679 ! cystitis [Term] id: DOID:13307 name: obsolete pseudomembranous diphtheritic conjunctivitis def: "A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane." [url:http\://books.google.com/books?id=dOdhR9EytYcC&pg=PA104&lpg=PA104&dq#v=onepage&q=&f=false] synonym: "Conjunctival diphtheria" EXACT [] synonym: "Conjunctival diphtheria (disorder)" EXACT [] synonym: "Pseudomembranous Diphtheritic Conjunctivitis" EXACT [] is_obsolete: true [Term] id: DOID:13308 name: obsolete diphtheritic myocarditis def: "A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae." [url:http\://www.journals.uchicago.edu/doi/abs/10.1086/344176] synonym: "Diphtheritic myocarditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13309 name: obsolete nasopharyngeal diphtheria def: "A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic bullneck apprearance." [url:http\://www.jstor.org/stable/3417440?seq=2] subset: gram-positive_bacterial_infectious_disease synonym: "Nasopharyngeal Diphtheria" EXACT [] synonym: "Nasopharyngeal diphtheria (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13310 name: diphtheritic peritonitis def: "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae." [url:http\://books.google.com/books?id=PRvTKedFeN8C&pg=PA505&lpg=PA505&dq#v=onepage&q=&f=false] xref: ICD10CM:A36.89 xref: ICD9CM:032.83 xref: SNOMEDCT_US_2023_03_01:13596001 xref: UMLS_CUI:C0152953 is_a: DOID:8283 ! peritonitis [Term] id: DOID:13313 name: pancreatic mucinous ductal ectasia subset: NCIthesaurus xref: NCI:C5717 xref: UMLS_CUI:C1335310 is_a: DOID:26 ! pancreas disease [Term] id: DOID:13315 name: obsolete relapsing pancreatitis is_obsolete: true [Term] id: DOID:13316 name: exocrine pancreatic insufficiency def: "A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine." [url:https\://www.ncbi.nlm.nih.gov/books/NBK555926/] subset: NCIthesaurus synonym: "EPI" EXACT OMO:0003012 [] xref: ICD10CM:K86.81 xref: MESH:D010188 xref: NCI:C84316 xref: SNOMEDCT_US_2023_03_01:47367009 xref: UMLS_CUI:C0267963 is_a: DOID:26 ! pancreas disease [Term] id: DOID:13317 name: hyperinsulinemic hypoglycemia alt_id: DOID:9996 def: "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin." [url:http\://en.wikipedia.org/wiki/Hyperinsulinemic_hypoglycemia] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Islet cell hyperplasia" EXACT [] synonym: "nesidioblastosis" EXACT [] synonym: "persistent hyperinsulinemia hypoglycemia of infancy" EXACT [] xref: ICD10CM:E16.9 xref: MESH:D046768 xref: MIM:PS256450 xref: NCI:C4375 xref: SNOMEDCT_US_2023_03_01:42681006 xref: UMLS_CUI:C0027773 is_a: DOID:9993 ! hypoglycemia [Term] id: DOID:13319 name: obsolete lower limb lymph node mast cell malignancy synonym: "malignant mast cell tumors involving lymph nodes of inguinal region and lower limb" EXACT [] synonym: "Mast cell malignancy of lymph nodes of inguinal region and lower limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1332 name: obsolete Bunyaviridae infectious disease def: "A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors." [url:http\://en.wikipedia.org/wiki/Bunyaviridae] is_obsolete: true [Term] id: DOID:13326 name: chronic follicular conjunctivitis xref: ICD10CM:H10.43 xref: ICD9CM:372.12 xref: SNOMEDCT_US_2023_03_01:39429002 xref: UMLS_CUI:C0155147 is_a: DOID:2475 ! chronic conjunctivitis [Term] id: DOID:13327 name: anatomical narrow angle borderline glaucoma def: "A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. These additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055310/] xref: ICD9CM:365.02 xref: UMLS_CUI:C0154941 is_a: DOID:9283 ! borderline glaucoma [Term] id: DOID:13328 name: diabetic cataract def: "A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23479523] synonym: "Cataract - diabetic" EXACT [] xref: ICD9CM:366.41 xref: SNOMEDCT_US_2023_03_01:43959009 xref: UMLS_CUI:C0011876 is_a: DOID:83 ! cataract [Term] id: DOID:13329 name: toxic optic neuropathy xref: ICD10CM:H46.3 xref: ICD9CM:377.34 xref: MESH:D000081028 xref: SNOMEDCT_US_2023_03_01:194053003 xref: UMLS_CUI:C0155303 is_a: DOID:1210 ! optic neuritis [Term] id: DOID:1333 name: obsolete african horse sickness def: "A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/african_horse_sickness.pdf] subset: tick-borne_infectious_disease is_obsolete: true [Term] id: DOID:13333 name: hypertrophy of tongue papillae synonym: "Tongue papillary hypertrophy" EXACT [] xref: ICD10CM:K14.3 xref: ICD9CM:529.3 xref: SNOMEDCT_US_2023_03_01:6971002 xref: UMLS_CUI:C0392494 is_a: DOID:10944 ! tongue disease [Term] id: DOID:13335 name: obsolete Toxoplasma hepatitis def: "A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7111119] synonym: "Hepatitis due to toxoplasmosis" EXACT [] synonym: "Toxoplasma hepatitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13336 name: congenital toxoplasmosis def: "A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur." [url:http\://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh, url:http\://www.who.int/bulletin/volumes/91/7/12-111732.pdf] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Toxoplasmosis - congen." EXACT [] xref: GARD:10326 xref: ICD10CM:P37.1 xref: MESH:D014125 xref: NCI:C50503 xref: ORDO:858 xref: SNOMEDCT_US_2023_03_01:268875000 xref: UMLS_CUI:C0040560 is_a: DOID:0080015 ! physical disorder is_a: DOID:9965 ! toxoplasmosis [Term] id: DOID:13338 name: obsolete Toxoplasma myocarditis def: "A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain." [url:http\://ukpmc.ac.uk/picrender.cgi?artid=1030799&blobtype=pdf] synonym: "Myocarditis due to acquired toxoplasmosis (disorder)" EXACT [] synonym: "Myocarditis due to toxoplasmosis" EXACT [] synonym: "Toxoplasma myocarditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1334 name: obsolete Reoviridae infectious disease def: "A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses." [url:http\://www.expasy.org/viralzone/all_by_species/104.html] synonym: "disease due to Orthoreovirus" EXACT [] synonym: "disease due to Reoviridae (disorder)" EXACT [] synonym: "disease due to Reovirus (disorder)" EXACT [] synonym: "Reoviridae disease" EXACT [] is_obsolete: true [Term] id: DOID:13341 name: parasitic conjunctivitis xref: ICD9CM:372.15 xref: SNOMEDCT_US_2023_03_01:13816006 xref: UMLS_CUI:C0155148 is_a: DOID:2475 ! chronic conjunctivitis [Term] id: DOID:13342 name: obsolete Toxoplasma pneumonia def: "A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales." [url:http\://books.google.com/books?id=L1t_iG3t_C0C&pg=PA460&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/8519364] synonym: "Pneumonitis due to toxoplasmosis" EXACT [] synonym: "Toxoplasma pneumonitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13343 name: obsolete ocular toxoplasmosis alt_id: DOID:13337 alt_id: DOID:13340 def: "A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness." [url:http\://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh] synonym: "Chorioretinitis due to toxoplasmosis" EXACT [] synonym: "Conjunctivitis due to acquired toxoplasmosis (disorder)" EXACT [] synonym: "Conjunctivitis due to toxoplasmosis" EXACT [] synonym: "ocular toxoplasmosis" EXACT [] synonym: "Ocular toxoplasmosis (disorder)" EXACT [] synonym: "Toxoplasma chorioretinitis" EXACT [] synonym: "Toxoplasma conjunctivitis" EXACT [] synonym: "Toxoplasmosis chorioretinitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13348 name: laryngeal cartilage cancer synonym: "malignant neoplasm of laryngeal cartilage" EXACT [] synonym: "malignant neoplasm of laryngeal cartilages" EXACT [] synonym: "malignant tumor of laryngeal cartilage" EXACT [] xref: ICD10CM:C32.3 xref: ICD9CM:161.3 xref: SNOMEDCT_US_2023_03_01:109370001 xref: UMLS_CUI:C0153486 is_a: DOID:2596 ! larynx cancer [Term] id: DOID:1335 name: obsolete bluetongue def: "A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue." [url:http\://en.wikipedia.org/wiki/Bluetongue_disease] synonym: "Soremuzzle" RELATED [] is_obsolete: true [Term] id: DOID:13350 name: obsolete gender identity disorder in children synonym: "Gender identity disorder of childhood (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13351 name: pedophilia subset: NCIthesaurus synonym: "Paedophilia" EXACT [] xref: ICD10CM:F65.4 xref: ICD9CM:302.2 xref: MESH:D010378 xref: NCI:C94355 xref: SNOMEDCT_US_2023_03_01:192516001 xref: UMLS_CUI:C0030764 is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:13352 name: ego-dystonic sexual orientation def: "A sexual health disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation." [url:http\://en.wikipedia.org/wiki/Ego-dystonic_sexual_orientation] xref: ICD9CM:302.0 xref: SNOMEDCT_US_2023_03_01:52813007 xref: UMLS_CUI:C0233880 is_a: DOID:0060043 ! sexual health disorder [Term] id: DOID:13353 name: diffuse interstitial keratitis xref: ICD10CM:H16.32 xref: ICD9CM:370.52 xref: SNOMEDCT_US_2023_03_01:193785001 xref: UMLS_CUI:C0155089 is_a: DOID:9857 ! interstitial keratitis [Term] id: DOID:13356 name: senile ectropion synonym: "Involutional ectropion" EXACT [] xref: ICD9CM:374.11 xref: SNOMEDCT_US_2023_03_01:71659009 xref: UMLS_CUI:C0155193 is_a: DOID:1570 ! ectropion [Term] id: DOID:13357 name: chondromalacia patellae def: "A chondromalacia that is characterized by well-localized pain when the patella is grated against the femoral condyles or when the knee is actively extended with the patella manually displaced distally. This occurs when the posterior articular surface of the patella starts losing its density when in a healthy state and becomes softer with subsequent tearing, fissuring, and erosion of the hyaline cartilage." [url:https\://www.ncbi.nlm.nih.gov/books/NBK459195] comment: OMIM mapping confirmed by DO. [SN]. synonym: "Chondromalacia of patella" EXACT [] synonym: "softening of articular cartilage of patella" EXACT [] xref: ICD10CM:M22.4 xref: ICD9CM:717.7 xref: MESH:D046789 xref: MIM:168900 xref: SNOMEDCT_US_2023_03_01:156521009 xref: UMLS_CUI:C0008475 is_a: DOID:0080001 ! bone disease is_a: DOID:2557 ! chondromalacia [Term] id: DOID:13359 name: Ehlers-Danlos syndrome alt_id: DOID:14696 def: "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules." [url:http\://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome, url:http\://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome, url:http\://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706, url:http\://www.merriam-webster.com/medlineplus/ehlers-Danlos, url:http\://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html, url:https\://www.ehlers-danlos.com/what-is-eds/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23711271] comment: OMIM mapping confirmed by DO. [LS].\nOMIM mapping by NeuroDevNet. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Cutis hyperelastica" EXACT [] synonym: "elastic skin" EXACT [] xref: GARD:6322 xref: ICD10CM:Q79.6 xref: ICD9CM:756.83 xref: MESH:D004535 xref: MIM:PS130000 xref: NCI:C34568 xref: SNOMEDCT_US_2023_03_01:268352002 xref: UMLS_CUI:C0013720 is_a: DOID:854 ! collagen disease [Term] id: DOID:1336 name: obsolete Nairobi sheep disease def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/nairobi_sheep_disease.pdf] subset: tick-borne_infectious_disease synonym: "Nairobi sheep virus disease (disorder)" EXACT [] synonym: "Nairobi sheep virus gastroenteritis" EXACT [] is_obsolete: true [Term] id: DOID:13361 name: obsolete nephrotic syndrome with lesion of proliferative glomerulonephritis synonym: "Nephrotic syndrome with Lesion of Proliferative Glomerulonephritis" EXACT [] is_obsolete: true [Term] id: DOID:13364 name: obsolete chronobiology disease xref: MESH:D021081 xref: UMLS_CUI:C0236811 is_obsolete: true [Term] id: DOID:13365 name: reading disorder def: "A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process." [url:http\://en.wikipedia.org/wiki/Reading_disability, url:https\://en.wikipedia.org/wiki/Learning_disability] xref: ICD9CM:315.09 xref: UMLS_CUI:C0154631 is_a: DOID:8927 ! learning disability [Term] id: DOID:13366 name: Stiff-Person syndrome def: "A movement disease that is of unknown etiology characterized by progressive rigidity." [url:http\://en.wikipedia.org/wiki/Stiff_person_syndrome] {comment="ls:IEDB"} subset: DO_rare_slim subset: NCIthesaurus synonym: "stiff man syndrome" EXACT [] synonym: "Stiff-man syndrome" EXACT [] xref: GARD:5023 xref: ICD10CM:G25.82 xref: ICD9CM:333.91 xref: MESH:D016750 xref: MIM:184850 xref: NCI:C85170 xref: SNOMEDCT_US_2023_03_01:5217008 xref: UMLS_CUI:C0085292 is_a: DOID:480 ! movement disease [Term] id: DOID:13368 name: tinea profunda def: "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses." [url:https\://www.sciencedirect.com/topics/pharmacology-toxicology-and-pharmaceutical-science/tinea] subset: DO_infectious_disease_slim synonym: "Deep seated dermatophytosis" EXACT [] synonym: "Granuloma trichophyticum" EXACT [] synonym: "Majocchi's granuloma" EXACT [] xref: SNOMEDCT_US_2023_03_01:58950002 xref: UMLS_CUI:C1279621 is_a: DOID:12179 ! tinea corporis [Term] id: DOID:13369 name: tinea manuum def: "A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling." [url:http\://en.wikipedia.org/wiki/Tinea_manuum] subset: DO_infectious_disease_slim synonym: "Dermatophytosis of hand" EXACT [] synonym: "Tinea manus" EXACT [] xref: ICD10CM:B35.2 xref: ICD9CM:110.2 xref: MESH:C000656824 xref: SNOMEDCT_US_2023_03_01:48971001 xref: UMLS_CUI:C0153246 is_a: DOID:37 ! skin disease is_a: DOID:8913 ! dermatophytosis [Term] id: DOID:13371 name: scrub typhus def: "A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy." [url:http\://en.wikipedia.org/wiki/Scrub_typhus] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Chigger-borne rickettsiosis" RELATED [] synonym: "Chigger-borne typhus" RELATED [] synonym: "Japanese river fever" EXACT [] synonym: "Kedani fever" EXACT [] synonym: "Mite-borne rickettsiosis" RELATED [] synonym: "Mite-borne typhus" RELATED [] synonym: "Scrub (mite-borne) typhus" RELATED [] synonym: "Scrub mite-borne typhus" EXACT [] synonym: "Tropical typhus" RELATED [] synonym: "Tsutsugamushi" EXACT [] synonym: "Tsutsugamushi disease" EXACT [] synonym: "Tsutsugamushi fever" RELATED [] synonym: "Typhus fever due to Rickettsia tsutsugamushi" RELATED [] xref: ICD10CM:A75.3 xref: ICD9CM:081.2 xref: MESH:D012612 xref: SNOMEDCT_US_2023_03_01:73911003 xref: UMLS_CUI:C0036472 is_a: DOID:11256 ! typhus [Term] id: DOID:13372 name: alpha 1-antitrypsin deficiency def: "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells." [url:http\://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000120.htm, url:https\://alpha1.org/what-is-alpha1/, url:https\://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "AAT deficiency" EXACT [] xref: GARD:5784 xref: ICD10CM:E88.01 xref: ICD9CM:273.4 xref: MESH:D019896 xref: MIM:613490 xref: NCI:C84397 xref: SNOMEDCT_US_2023_03_01:30188007 xref: UMLS_CUI:C0221757 is_a: DOID:2345 ! plasma protein metabolism disease property_value: exactMatch "MESH:D019896" xsd:string [Term] id: DOID:13374 name: fibrodysplasia ossificans progressiva def: "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene." [url:http\://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva, url:http\://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/, url:https\://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia-ossificans-progressiva] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "myositis ossificans progressiva" EXACT [] synonym: "progressive myositis ossificans" EXACT [] synonym: "progressive ossifying myositis" EXACT [] synonym: "Stone Man Syndrome" EXACT [] xref: GARD:6445 xref: ICD10CM:M61.1 xref: ICD9CM:728.11 xref: MESH:D009221 xref: MIM:135100 xref: NCI:C3040 xref: ORDO:337 xref: SNOMEDCT_US_2023_03_01:82725007 xref: UMLS_CUI:C0016037 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:13375 name: temporal arteritis def: "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head." [url:https\://www.mayoclinic.org/diseases-conditions/giant-cell-arteritis/symptoms-causes/syc-20372758] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "giant cell arteritis" EXACT [] synonym: "Horton's disease" EXACT [] xref: ICD9CM:446.5 xref: MESH:D013700 xref: MIM:187360 xref: NCI:C35065 xref: ORDO:397 xref: SNOMEDCT_US_2023_03_01:195354005 xref: UMLS_CUI:C0039483 is_a: DOID:0060004 ! autoimmune disease of central nervous system is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:525 ! central nervous system vasculitis [Term] id: DOID:13376 name: obsolete congenital aortic insufficiency synonym: "Congenital aortic valve insufficiency (disorder)" EXACT [] synonym: "Congenital aortic valve insufficiency NOS (disorder)" EXACT [] synonym: "Congenital aortic valve insufficiency, unspecified (disorder)" EXACT [] synonym: "Congenital bicuspid aortic valve insufficiency" EXACT [] synonym: "Congenital insufficiency of aortic valve" EXACT [] synonym: "Congenital insufficiency of aortic valve (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13378 name: Kawasaki disease def: "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities." [url:http\://en.wikipedia.org/wiki/Kawasaki_disease] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "acute febrile MCLS" EXACT [] synonym: "acute febrile mucocutaneous lymph node syndrome" EXACT [] synonym: "Kawasaki's disease" EXACT [] synonym: "MLNS" EXACT OMO:0003012 [] synonym: "mucocutaneous lymph node syndrome" EXACT [] xref: EFO:0004246 xref: GARD:6816 xref: ICD10CM:M30.3 xref: ICD9CM:446.1 xref: MESH:D009080 xref: MIM:611775 xref: NCI:C34825 xref: SNOMEDCT_US_2023_03_01:75053002 xref: UMLS_CUI:C0026691 is_a: DOID:1602 ! lymphadenitis [Term] id: DOID:1338 name: congenital dyserythropoietic anemia def: "A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood." [url:http\://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia, url:http\://www.ncbi.nlm.nih.gov/books/NBK5313/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "congenital dyshaematopoietic anaemia" EXACT [] xref: GARD:1999 xref: ICD10CM:D64.4 xref: MESH:D000742 xref: MIM:PS224120 xref: NCI:C84646 xref: ORDO:85 xref: SNOMEDCT_US_2023_03_01:191272005 xref: UMLS_CUI:C0002876 is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:13380 name: obsolete acute pyelonephritis with lesion of renal medullary necrosis is_obsolete: true [Term] id: DOID:13381 name: pernicious anemia def: "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors." [url:https\://medlineplus.gov/ency/article/000569.htm, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3441227/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Addison's anaemia" EXACT [] synonym: "ANEMIA PERNICIOUS" EXACT [] synonym: "Biermer's anaemia" EXACT [] synonym: "Biermer's anemia" EXACT [] synonym: "pernicious anaemia" EXACT [] xref: GARD:12671 xref: ICD10CM:D51.0 xref: ICD9CM:281.0 xref: MESH:D000752 xref: MIM:170900 xref: NCI:C2871 xref: SNOMEDCT_US_2023_03_01:191139001 xref: UMLS_CUI:C0002892 is_a: DOID:2355 ! anemia is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:13382 name: megaloblastic anemia def: "A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production." [url:http\://en.wikipedia.org/wiki/Megaloblastic_anemia] comment: Xref MGI. subset: NCIthesaurus synonym: "Grasbeck-Imerslund syndrome" EXACT [] synonym: "IGS" RELATED OMO:0003012 [] synonym: "Imerslund-Grasbeck syndrome" EXACT [] synonym: "megaloblastic anaemia" EXACT [] synonym: "MGA1 Norwegian type" EXACT [] synonym: "recessive hereditary megaloblastic anaemia 1" EXACT [] synonym: "recessive hereditary megaloblastic anemia 1" EXACT [] synonym: "RH-MGA1" EXACT OMO:0003012 [] xref: ICD10CM:D53.1 xref: MESH:D000749 xref: MIM:261100 xref: MIM:613839 xref: NCI:C34382 xref: SNOMEDCT_US_2023_03_01:191138009 xref: UMLS_CUI:C0002888 is_a: DOID:2361 ! macrocytic anemia [Term] id: DOID:13386 name: gastrointestinal anthrax def: "An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite." [url:http\://www.springerlink.com/content/g3575hwr232l4411/, url:https\://en.wikipedia.org/wiki/Anthrax#Gastrointestinal] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: zoonotic_infectious_disease xref: ICD10CM:A22.2 xref: ICD9CM:022.2 xref: MESH:C571911 xref: SNOMEDCT_US_2023_03_01:186302005 xref: UMLS_CUI:C0152945 is_a: DOID:7427 ! anthrax disease is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:13387 name: obsolete upper limb cancer synonym: "malignant neoplasm of upper limb" EXACT [] synonym: "malignant neoplasm of upper limb NOS (disorder)" EXACT [] synonym: "malignant neoplasm of upper limb, NOS" EXACT [] synonym: "malignant tumor of upper limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13389 name: labia majora carcinoma def: "A vulva carcinoma that is located_in the labia majora." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27917514] subset: NCIthesaurus synonym: "carcinoma of labia majora" RELATED [] synonym: "Labia Majora cancer" EXACT [] xref: NCI:C9363 xref: UMLS_CUI:C1334356 is_a: DOID:1294 ! vulva carcinoma is_a: DOID:4159 ! skin cancer [Term] id: DOID:1339 name: Diamond-Blackfan anemia def: "A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction." [url:http\://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia, url:http\://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia, url:http\://www.cdc.gov/ncbddd/dba/, url:http\://www.omim.org/entry/105650] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Blackfan - Diamond syndrome" EXACT [] synonym: "chronic constitutional pure red cell anaemia" EXACT [] xref: GARD:6274 xref: ICD10CM:D61.01 xref: MESH:D029503 xref: MIM:PS105650 xref: NCI:C61236 xref: ORDO:124 is_a: DOID:1340 ! pure red-cell aplasia [Term] id: DOID:13397 name: obsolete atypical manic disorder is_obsolete: true [Term] id: DOID:13398 name: obsolete open angle with borderline glaucoma findings is_obsolete: true [Term] id: DOID:13399 name: color blindness def: "A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions." [url:http\://en.wikipedia.org/wiki/Color_blindness] subset: NCIthesaurus synonym: "BLINDNESS COLOR" EXACT [] synonym: "Colour blindness" EXACT [] synonym: "Colour vision deficiency" EXACT [] xref: ICD10CM:H53.5 xref: ICD9CM:368.5 xref: MESH:D003117 xref: NCI:C3891 xref: SNOMEDCT_US_2023_03_01:193683001 xref: UMLS_CUI:C0242225 is_a: DOID:1432 ! blindness [Term] id: DOID:134 name: vaginal glandular tumor def: "A vaginal cancer that has_material_basis_in glandular tissue." [url:https\://www.mayoclinic.org/diseases-conditions/vaginal-cancer/symptoms-causes/syc-20352447] subset: NCIthesaurus xref: NCI:C40250 xref: UMLS_CUI:C1519921 is_a: DOID:119 ! vaginal cancer [Term] id: DOID:1340 name: pure red-cell aplasia def: "A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142432/] subset: DO_rare_slim subset: NCIthesaurus synonym: "primary red cell aplasia" EXACT [] synonym: "pure red cell aplasia" EXACT [] synonym: "Red cell hypoplasia" EXACT [] xref: GARD:7504 xref: MESH:D012010 xref: NCI:C34974 xref: SNOMEDCT_US_2023_03_01:191252000 xref: UMLS_CUI:C0034902 is_a: DOID:1342 ! congenital hypoplastic anemia [Term] id: DOID:13401 name: angioid streaks comment: OMIM mapping confirmed by DO. [SN]. xref: MESH:D000793 xref: MIM:607140 xref: UMLS_CUI:C0002982 is_a: DOID:5679 ! retinal disease [Term] id: DOID:13402 name: skin sarcoidosis subset: NCIthesaurus synonym: "Cutaneous sarcoid" EXACT [] synonym: "cutaneous sarcoidosis" EXACT [] xref: ICD10CM:D86.3 xref: NCI:C34996 xref: SNOMEDCT_US_2023_03_01:55941000 xref: UMLS_CUI:C0036203 is_a: DOID:11335 ! sarcoidosis is_a: DOID:37 ! skin disease [Term] id: DOID:13403 name: neurosarcoidosis def: "A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975794/] subset: NCIthesaurus synonym: "cerebral sarcoidosis" EXACT [] xref: NCI:C35441 xref: SNOMEDCT_US_2023_03_01:111936002 xref: UMLS_CUI:C0398676 is_a: DOID:11335 ! sarcoidosis [Term] id: DOID:13404 name: uveoparotid fever def: "A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739221/] synonym: "Heerfordt's syndrome" EXACT [] xref: ICD10CM:D86.89 xref: MESH:D014608 xref: SNOMEDCT_US_2023_03_01:31541009 xref: UMLS_CUI:C0042171 is_a: DOID:11335 ! sarcoidosis [Term] id: DOID:13405 name: cardiac sarcoidosis def: "A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731586/] subset: NCIthesaurus xref: NCI:C35589 xref: SNOMEDCT_US_2023_03_01:75403004 xref: UMLS_CUI:C0392077 is_a: DOID:11335 ! sarcoidosis [Term] id: DOID:13406 name: pulmonary sarcoidosis def: "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction." [url:https\://www.atsjournals.org/doi/full/10.1164/rccm.201006-0865CI] subset: NCIthesaurus synonym: "lung Sarcoidosis" EXACT [] xref: ICD10CM:D86.0 xref: MEDDRA:10037430 xref: MESH:D017565 xref: NCI:C34997 xref: SNOMEDCT_US_2023_03_01:187230004 xref: UMLS_CUI:C0036205 is_a: DOID:11335 ! sarcoidosis is_a: DOID:850 ! lung disease [Term] id: DOID:13407 name: hypercalcemic sarcoidosis subset: NCIthesaurus xref: NCI:C35807 xref: UMLS_CUI:C1334067 is_a: DOID:11335 ! sarcoidosis [Term] id: DOID:13408 name: obsolete metastasis to pleura synonym: "metastatic tumor to the Pleura" EXACT [] synonym: "secondary malignant neoplasm of pleura" EXACT [] synonym: "secondary malignant neoplasm of pleura (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13409 name: perforation of bile duct subset: NCIthesaurus xref: ICD10CM:K83.2 xref: ICD9CM:576.3 xref: NCI:C78528 xref: SNOMEDCT_US_2023_03_01:37439003 xref: UMLS_CUI:C0156218 is_a: DOID:9741 ! biliary tract disease [Term] id: DOID:1341 name: obsolete congenital anemia synonym: "Congenital anemia" EXACT [] synonym: "Congenital anemia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13413 name: hepatic encephalopathy def: "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood." [url:https\://en.wikipedia.org/wiki/Hepatic_encephalopathy] subset: DO_rare_slim subset: NCIthesaurus synonym: "Portal-systemic encephalopathy" EXACT [] xref: GARD:10452 xref: ICD10CM:K76.82 xref: ICD9CM:572.2 xref: MESH:D006501 xref: NCI:C79596 xref: SNOMEDCT_US_2023_03_01:197332007 xref: UMLS_CUI:C0019151 is_a: DOID:936 ! brain disease [Term] id: DOID:13416 name: obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with peripheral circulatory disorder synonym: "Diabetes mellitus juvenile type, not stated as uncontrolled, with peripheral circulatory disorder" EXACT [] synonym: "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with peripheral circulatory disorder" EXACT [] is_obsolete: true [Term] id: DOID:13417 name: alexia alt_id: DOID:4427 def: "An agnosia that is a loss of the ability to recognize text." [url:http\://en.wikipedia.org/wiki/Agnosia, url:http\://en.wikipedia.org/wiki/Alexia_%28disorder%29] synonym: "acquired dyslexia" EXACT [] synonym: "Aphemesthaesia" EXACT [] xref: ICD9CM:315.01 xref: MESH:D004410 xref: MESH:D004411 xref: SNOMEDCT_US_2023_03_01:9236007 xref: UMLS_CUI:C0002018 xref: UMLS_CUI:C0013388 is_a: DOID:4090 ! agnosia [Term] id: DOID:13419 name: neurogenic bowel xref: ICD9CM:564.81 xref: MESH:D055496 xref: SNOMEDCT_US_2023_03_01:425671009 xref: UMLS_CUI:C0695242 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:1342 name: congenital hypoplastic anemia alt_id: DOID:13639 def: "An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life." [url:https\://en.wikipedia.org/wiki/Congenital_hypoplastic_anemia] synonym: "congenital aplastic anaemia" EXACT [] synonym: "congenital aplastic anemia" EXACT [] synonym: "congenital hypoplastic anaemia" EXACT [] synonym: "Constitutional aplastic anaemia" RELATED [] xref: ICD10CM:D61.0 xref: ICD10CM:D61.01 xref: ICD9CM:284.0 xref: MESH:D029502 xref: SNOMEDCT_US_2023_03_01:191236003 xref: SNOMEDCT_US_2023_03_01:267523003 xref: UMLS_CUI:C0702159 xref: UMLS_CUI:C0949116 is_a: DOID:0080015 ! physical disorder is_a: DOID:12449 ! aplastic anemia [Term] id: DOID:1343 name: urethritis alt_id: DOID:2863 subset: NCIthesaurus synonym: "Non-Gonococcal Urethritis" EXACT [] synonym: "Nongonococcal urethritis" EXACT [] xref: ICD10CM:N34.2 xref: ICD9CM:597.80 xref: MESH:D014526 xref: NCI:C26904 xref: SNOMEDCT_US_2023_03_01:154388003 xref: SNOMEDCT_US_2023_03_01:31822004 xref: UMLS_CUI:C0041976 xref: UMLS_CUI:C0311389 is_a: DOID:732 ! urethral disease [Term] id: DOID:13431 name: bejel def: "A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face." [url:http\://en.wikipedia.org/wiki/Bejel, url:http\://www.merckmanuals.com/home/sec17/ch190/ch190d.html] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease synonym: "Njovera" EXACT [] synonym: "Nonvenereal endemic syphilis" EXACT [] xref: GARD:5905 xref: MESH:D014211 xref: SNOMEDCT_US_2023_03_01:186978001 xref: UMLS_CUI:C0004945 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:13444 name: glanders def: "A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs." [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/glanders/] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Farcy pipes" EXACT [] synonym: "Infection due to Pseudomonas mallei" EXACT [] xref: GARD:9536 xref: ICD10CM:A24.0 xref: ICD9CM:024 xref: MESH:D005896 xref: NCI:C34638 xref: SNOMEDCT_US_2023_03_01:4639008 xref: UMLS_CUI:C0017589 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:13446 name: basilar artery occlusion xref: ICD10CM:I65.1 xref: ICD9CM:433.0 xref: SNOMEDCT_US_2023_03_01:78658006 xref: UMLS_CUI:C0265098 is_a: DOID:0050828 ! artery disease is_a: DOID:5976 ! occlusion precerebral artery [Term] id: DOID:13447 name: corneal argyrosis synonym: "Argentous corneal deposits" EXACT [] synonym: "Argyrosis of cornea" EXACT [] xref: ICD10CM:H18.02 xref: ICD9CM:371.16 xref: SNOMEDCT_US_2023_03_01:21328003 xref: UMLS_CUI:C0155108 is_a: DOID:10124 ! corneal disease [Term] id: DOID:13448 name: posterior corneal pigmentation synonym: "Posterior corneal pigmentations" EXACT [] xref: ICD10CM:H18.05 xref: ICD9CM:371.13 xref: SNOMEDCT_US_2023_03_01:11293004 xref: UMLS_CUI:C0155106 is_a: DOID:11547 ! corneal deposit [Term] id: DOID:13450 name: coccidioidomycosis alt_id: DOID:13981 def: "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules." [url:http\://www.merck.com/mmhe/sec17/ch197/ch197e.html] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "primary extrapulmonary coccidioidomycosis" EXACT [] xref: GARD:9525 xref: ICD10CM:B38 xref: ICD9CM:114 xref: MESH:D003047 xref: NCI:C84642 xref: SNOMEDCT_US_2023_03_01:266218008 xref: UMLS_CUI:C0009186 is_a: DOID:0050292 ! primary systemic mycosis [Term] id: DOID:13452 name: scleritis subset: DO_rare_slim subset: NCIthesaurus xref: GARD:12911 xref: ICD10CM:H15.0 xref: ICD9CM:379.00 xref: MESH:D015423 xref: NCI:C119046 xref: SNOMEDCT_US_2023_03_01:155201000 xref: UMLS_CUI:C0036416 is_a: DOID:11343 ! scleral disease [Term] id: DOID:13453 name: gonococcal bursitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease xref: ICD10CM:A54.49 xref: ICD9CM:098.52 xref: SNOMEDCT_US_2023_03_01:186928003 xref: UMLS_CUI:C0153218 is_a: DOID:2965 ! bursitis [Term] id: DOID:13454 name: gonococcal synovitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Gonococcal synovitis &/or tenosynovitis" EXACT [] synonym: "Gonococcal synovitis and tenosynovitis" EXACT [] synonym: "Gonococcal synovitis or tenosynovitis" EXACT [] xref: ICD9CM:098.51 xref: SNOMEDCT_US_2023_03_01:186927008 xref: UMLS_CUI:C0343714 is_a: DOID:2703 ! synovitis [Term] id: DOID:13459 name: obsolete secondary syphilitic hepatitis alt_id: DOID:13458 def: "A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions." [url:http\://www.merck.com/mmpe/sec14/ch194/ch194i.html?qt=syphilis&alt=sh] subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Hepatitis in secondary syphilis (disorder)" EXACT [] synonym: "secondary syphilis of liver" EXACT [] synonym: "secondary syphilis of liver (disorder)" EXACT [] synonym: "secondary syphilitic hepatitis" EXACT [] synonym: "Syphilis of liver (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13461 name: urethral intrinsic sphincter deficiency synonym: "Intrinsic (urethral) sphincter deficiency [ISD]" EXACT [] xref: ICD10CM:N36.42 xref: ICD9CM:599.82 xref: SNOMEDCT_US_2023_03_01:16031000119101 xref: UMLS_CUI:C0375381 is_a: DOID:732 ! urethral disease [Term] id: DOID:13468 name: obsolete primary genital syphilis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Genital syphilis" EXACT [] synonym: "Genital syphilis (primary)" EXACT [] synonym: "primary genital syphilis (disorder)" EXACT [] synonym: "primary genital syphilis (disorder) [Ambiguous]" EXACT [] is_obsolete: true [Term] id: DOID:13469 name: obsolete secondary cutaneous syphilis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "secondary syphilis of skin and mucous membrane (disorder)" EXACT [] synonym: "secondary syphilis of skin or mucous membranes" EXACT [] synonym: "secondary syphilis of skin or mucus membranes NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13470 name: obsolete primary anal syphilis def: "A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum." [url:http\://www.cdc.gov/std/syphilis/STDFact-Syphilis.htm, url:http\://www.merck.com/mmpe/sec14/ch194/ch194i.html?qt=syphilis&alt=sh] subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "primary anal syphilis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13471 name: obsolete secondary syphilitic lymphadenitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Adenopathy due to secondary syphilis" EXACT [] synonym: "secondary syphilitic adenopathy (disorder)" EXACT [] synonym: "secondary syphilitic lymphadenitis" EXACT [] is_obsolete: true [Term] id: DOID:13473 name: central pterygium def: "A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Central pterygiums progress from pinguecula." [url:https\://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/] xref: ICD10CM:H11.02 xref: ICD9CM:372.43 xref: SNOMEDCT_US_2023_03_01:193882008 xref: UMLS_CUI:C0155156 is_a: DOID:13474 ! progressive peripheral pterygium [Term] id: DOID:13474 name: progressive peripheral pterygium def: "A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Progressive peripheral pterygiums progress from pinguecula." [url:https\://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/] xref: ICD9CM:372.42 xref: SNOMEDCT_US_2023_03_01:193881001 xref: UMLS_CUI:C0155155 is_a: DOID:10526 ! conjunctival pterygium [Term] id: DOID:13476 name: supraglottis cancer subset: NCIthesaurus synonym: "Ca larynx - supraglottis" EXACT [] synonym: "malignant neoplasm of extrinsic larynx" EXACT [] synonym: "malignant neoplasm of supraglottis" EXACT [] synonym: "malignant Supraglottic tumor" EXACT [] synonym: "malignant tumor of supraglottis" EXACT [] synonym: "supraglottis" EXACT [] xref: ICD10CM:C32.1 xref: ICD9CM:161.1 xref: NCI:C3545 xref: SNOMEDCT_US_2023_03_01:187842004 xref: UMLS_CUI:C0153484 is_a: DOID:2596 ! larynx cancer [Term] id: DOID:13477 name: balanitis xerotica obliterans def: "A balantitis characterized by white plaques or patches on genitals." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24295833] subset: NCIthesaurus synonym: "Penile Lichen Sclerosus" EXACT [] xref: ICD9CM:607.81 xref: NCI:C3523 xref: SNOMEDCT_US_2023_03_01:198028006 xref: UMLS_CUI:C0152460 is_a: DOID:13033 ! balanitis property_value: exactMatch "MESH:D052798" xsd:string [Term] id: DOID:13480 name: obsolete paranoid type schizophrenia chronic state with acute exacerbation is_obsolete: true [Term] id: DOID:13481 name: thanatophoric dysplasia def: "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." [url:http\://en.wikipedia.org/wiki/Thanatophoric_dysplasia, url:http\://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia] comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:85 xref: ICD10CM:Q77.1 xref: MESH:D013796 xref: MIM:187600 xref: MIM:187601 xref: MIM:273680 xref: NCI:C85187 xref: ORDO:1860 xref: ORDO:2655 xref: ORDO:93274 xref: ORDO:93275 xref: SNOMEDCT_US_2023_03_01:29352008 xref: UMLS_CUI:C0039743 is_a: DOID:2256 ! osteochondrodysplasia property_value: exactMatch "MESH:D013796" xsd:string [Term] id: DOID:13482 name: Proteus syndrome def: "A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues." [url:https\://ghr.nlm.nih.gov/condition/proteus-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK99495/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Wiedemann's syndrome" EXACT [] xref: GARD:7475 xref: MESH:D016715 xref: MIM:176920 xref: NCI:C85032 xref: SNOMEDCT_US_2023_03_01:394527003 xref: UMLS_CUI:C0085261 is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome [Term] id: DOID:13484 name: obsolete disorganized type schizophrenia chronic state is_obsolete: true [Term] id: DOID:13487 name: childhood disintegrative disease def: "A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress." [url:http\://en.wikipedia.org/wiki/Heller%27s_syndrome, url:http\://www.patient.co.uk/doctor/Heller%27s-Syndrome.htm] subset: DO_rare_slim subset: NCIthesaurus synonym: "Disintegrative psychosis" EXACT [] synonym: "Heller's syndrome" EXACT [] synonym: "Symbiotic psychosis" EXACT [] xref: GARD:6040 xref: ICD10CM:F84.3 xref: ICD9CM:299.1 xref: NCI:C97164 xref: SNOMEDCT_US_2023_03_01:71961003 xref: UMLS_CUI:C0236791 is_a: DOID:0060040 ! pervasive developmental disorder [Term] id: DOID:13490 name: active cochleovestibular Meniere's disease synonym: "active cochleovestibular Meniere disease" EXACT [] synonym: "active Meniere's disease, cochleovestibular" EXACT [] synonym: "Cochleovestibular active Mnire's disease" EXACT [] xref: ICD9CM:386.01 xref: SNOMEDCT_US_2023_03_01:194348002 xref: UMLS_CUI:C0155496 is_a: DOID:9849 ! Meniere's disease [Term] id: DOID:13491 name: active vestibular Meniere's disease synonym: "active Meniere's disease, vestibular" EXACT [] synonym: "active vestibular Meniere disease" EXACT [] synonym: "Vestibular active Mnire's disease" EXACT [] xref: ICD9CM:386.03 xref: SNOMEDCT_US_2023_03_01:194350005 xref: UMLS_CUI:C0155498 is_a: DOID:9849 ! Meniere's disease [Term] id: DOID:13492 name: active cochlear Meniere's disease synonym: "active cochlear Meniere disease" EXACT [] synonym: "active Meniere's disease, cochlear" EXACT [] synonym: "Cochlear active Mnire's disease" EXACT [] xref: ICD9CM:386.02 xref: SNOMEDCT_US_2023_03_01:194349005 xref: UMLS_CUI:C0155497 is_a: DOID:9849 ! Meniere's disease [Term] id: DOID:13498 name: urethral syndrome xref: ICD10CM:N34.3 xref: ICD9CM:597.81 xref: SNOMEDCT_US_2023_03_01:31273004 xref: UMLS_CUI:C0156279 is_a: DOID:732 ! urethral disease [Term] id: DOID:13499 name: jejunal cancer subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "malignant neoplasm of jejunum" EXACT [] synonym: "malignant tumor of jejunum" EXACT [] xref: ICD10CM:C17.1 xref: ICD9CM:152.1 xref: MESH:D007580 xref: NCI:C170919 xref: SNOMEDCT_US_2023_03_01:93846004 xref: UMLS_CUI:C0153427 is_a: DOID:10154 ! small intestine cancer [Term] id: DOID:135 name: benign vaginal carcinosarcoma def: "A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components." [url:https\://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5] subset: NCIthesaurus xref: NCI:C40275 xref: UMLS_CUI:C1511106 is_a: DOID:0060114 ! vaginal benign neoplasm [Term] id: DOID:1350 name: paranasal sinus benign neoplasm subset: NCIthesaurus synonym: "neoplasm of accessory sinus" EXACT [] synonym: "tumor of Accessory sinus" EXACT [] xref: MESH:D010255 xref: NCI:C7488 xref: SNOMEDCT_US_2023_03_01:126675008 xref: UMLS_CUI:C0030470 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:1352 ! paranasal sinus disease [Term] id: DOID:13500 name: hairy tongue subset: NCIthesaurus synonym: "Overgrowth of filiform papillae" EXACT [] xref: MESH:D014064 xref: NCI:C35075 xref: SNOMEDCT_US_2023_03_01:81934005 xref: UMLS_CUI:C0040414 is_a: DOID:10944 ! tongue disease [Term] id: DOID:13501 name: Moebius syndrome def: "A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s)." [url:https\://pubmed.ncbi.nlm.nih.gov/33474647/, url:https\://www.ncbi.nlm.nih.gov/articles/PMC4082742/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Mobius syndrome" EXACT [] synonym: "Moebius congenital oculofacial paralysis" EXACT [] synonym: "Oromandibular-limb hypogenesis spectrum" EXACT [] xref: GARD:8549 xref: ICD10CM:Q87.0 xref: MESH:D020331 xref: MIM:157900 xref: NCI:C84893 xref: SNOMEDCT_US_2023_03_01:89444000 xref: UMLS_CUI:C0221060 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1756 ! facial nerve disease [Term] id: DOID:13507 name: trigonitis subset: NCIthesaurus xref: ICD10CM:N30.3 xref: ICD9CM:595.3 xref: NCI:C123175 xref: SNOMEDCT_US_2023_03_01:155885003 xref: UMLS_CUI:C1261278 is_a: DOID:1679 ! cystitis [Term] id: DOID:13514 name: venous tributary occlusion of retina synonym: "Venous tributary (branch) occlusion of retina" EXACT [] synonym: "Venous tributary branch occlusion of retina" EXACT [] xref: ICD9CM:362.36 xref: UMLS_CUI:C0154842 is_a: DOID:1729 ! retinal vascular occlusion [Term] id: DOID:13515 name: tuberous sclerosis def: "A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body." [url:https\://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#synonyms] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_cancer_slim subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Bourneville's disease" EXACT [] synonym: "cerebral sclerosis" EXACT [] synonym: "Epiloia" EXACT [] synonym: "Tuberose sclerosis" EXACT [] synonym: "Tuberous sclerosis syndrome" EXACT [] xref: GARD:7830 xref: ICD10CM:Q85.1 xref: ICD9CM:759.5 xref: MESH:D014402 xref: MIM:PS191100 xref: NCI:C3424 xref: SNOMEDCT_US_2023_03_01:157033002 xref: UMLS_CUI:C0041341 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:13518 name: obsolete stiffness of joint alt_id: DOID:13885 alt_id: DOID:14206 alt_id: DOID:14207 alt_id: DOID:14208 alt_id: DOID:14209 alt_id: DOID:14211 alt_id: DOID:14212 is_obsolete: true [Term] id: DOID:1352 name: paranasal sinus disease subset: NCIthesaurus synonym: "disorder of nasal sinus" EXACT [] xref: MESH:D010254 xref: NCI:C26843 xref: SNOMEDCT_US_2023_03_01:7393007 xref: UMLS_CUI:C0030469 is_a: DOID:2825 ! nose disease [Term] id: DOID:13520 name: neonatal infective mastitis xref: ICD10CM:P39.0 xref: ICD9CM:771.5 xref: SNOMEDCT_US_2023_03_01:3468005 xref: UMLS_CUI:C0158948 is_a: DOID:10690 ! mastitis [Term] id: DOID:13521 name: tetanus neonatorum def: "A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion." [url:https\://en.wikipedia.org/wiki/Neonatal_tetanus] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "neonatal tetanus" EXACT [] xref: ICD10CM:A33 xref: ICD9CM:771.3 xref: NCI:C116814 xref: SNOMEDCT_US_2023_03_01:43424001 xref: UMLS_CUI:C0343312 is_a: DOID:11338 ! tetanus [Term] id: DOID:13523 name: loiasis def: "A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis." [url:http\://en.wikipedia.org/wiki/Loiasis] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:3283 xref: ICD10CM:B74.3 xref: ICD9CM:125.2 xref: MESH:D008118 xref: NCI:C34784 xref: SNOMEDCT_US_2023_03_01:44250009 xref: UMLS_CUI:C0023968 is_a: DOID:1080 ! filariasis is_a: DOID:37 ! skin disease is_a: DOID:5614 ! eye disease [Term] id: DOID:13526 name: obsolete candidal endocarditis def: "A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly." [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/, url:http\://www.accessmedicine.com/resourceTOC.aspx?resourceID=4] synonym: "Candidal endocarditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13527 name: obsolete candidal otitis externa def: "A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis." [url:http\://en.wikipedia.org/wiki/Moniliasis, url:http\://en.wikipedia.org/wiki/Otomycosis, url:http\://www.aafp.org/afp/2001/0301/p927.html, url:http\://www.blackwellpublishing.com/eccmid14/abstract.asp?id=14641] synonym: "Candidal otitis externa (disorder)" EXACT [] synonym: "Candidal: [otitis externa] or [otomycosis]" EXACT [] synonym: "otomycosis in moniliasis" EXACT [] is_obsolete: true [Term] id: DOID:13528 name: obsolete candidal enteritis def: "A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration." [url:http\://emedicine.medscape.com/article/213853-overview, url:http\://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/index.html] synonym: "gastrointestinal candidiasis (disorder)" EXACT [] synonym: "intestinal moniliasis" EXACT [] is_obsolete: true [Term] id: DOID:13533 name: osteopetrosis def: "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones." [url:http\://en.wikipedia.org/wiki/Osteopetrosis] comment: Xref MGI.\nOMIM mapping submitted by NeuroDevNet. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Albers-Schonberg disease" EXACT [] synonym: "marble bone" EXACT [] xref: GARD:4155 xref: ICD10CM:Q78.2 xref: ICD9CM:756.52 xref: MESH:D010022 xref: MIM:PS259700 xref: MIM:PS607634 xref: NCI:C26840 xref: ORDO:667 xref: SNOMEDCT_US_2023_03_01:205500005 xref: UMLS_CUI:C0029454 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:13534 name: purulent labyrinthitis def: "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma." [url:http\://www.merck.com/mmpe/sec08/ch086/ch086g.html?qt=irritation%20and%20swelling%20of%20the%20inner%20ear.&alt=sh] synonym: "acute suppurative labyrinthitis" RELATED [] synonym: "bacterial labyrinthitis" EXACT [] synonym: "Suppurative labyrinthitis" EXACT [] xref: ICD9CM:386.33 xref: SNOMEDCT_US_2023_03_01:24817009 xref: UMLS_CUI:C0155506 is_a: DOID:1468 ! labyrinthitis [Term] id: DOID:13535 name: obsolete intrapelvic lymph node mast cell malignancy synonym: "malignant mast cell tumors involving intrapelvic lymph nodes" EXACT [] synonym: "Mast cell malignancy of intrapelvic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13538 name: cornea squamous cell carcinoma subset: NCIthesaurus synonym: "Corneal Epidermoid carcinoma" EXACT [] xref: NCI:C4552 xref: SNOMEDCT_US_2023_03_01:255008003 xref: UMLS_CUI:C0346366 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:6199 ! cornea cancer [Term] id: DOID:13543 name: hyperparathyroidism def: "A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body." [url:http\://en.wikipedia.org/wiki/Hyperparathyroidism, url:http\://ghr.nlm.nih.gov/glossary=hyperparathyroidism] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus xref: ICD10CM:E21.3 xref: ICD9CM:252.0 xref: MESH:D006961 xref: MIM:145000 xref: MIM:145001 xref: MIM:610071 xref: NCI:C48259 xref: ORDO:99879 xref: SNOMEDCT_US_2023_03_01:190451000 xref: UMLS_CUI:C0020502 is_a: DOID:11201 ! parathyroid gland disease [Term] id: DOID:13544 name: low tension glaucoma def: "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision." [url:https\://eyewiki.aao.org/Primary_Open-Angle_Glaucoma] synonym: "Normal tension glaucoma" EXACT [] xref: ICD10CM:H40.12 xref: ICD9CM:365.12 xref: MESH:D057066 xref: SNOMEDCT_US_2023_03_01:155124000 xref: UMLS_CUI:C0152136 is_a: DOID:1067 ! open-angle glaucoma [Term] id: DOID:13548 name: secondary Parkinson disease subset: NCIthesaurus synonym: "disorder presenting primarily with parkinsonism" EXACT [] synonym: "secondary parkinsonism" EXACT [] synonym: "Symptomatic parkinsonism" EXACT [] xref: ICD10CM:G21 xref: ICD9CM:332.1 xref: MESH:D010302 xref: NCI:C34899 xref: SNOMEDCT_US_2023_03_01:230292008 xref: UMLS_CUI:C0030569 is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:13549 name: interval angle-closure glaucoma def: "A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow." [url:https\://en.wikipedia.org/wiki/Glaucoma, url:https\://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma, url:https\://www.merckmanuals.com/professional/eye-disorders/glaucoma/angle-closure-glaucoma] synonym: "Angle-closure glaucoma, subacute" EXACT [] synonym: "Intermittent angle-closure glaucoma" EXACT [] synonym: "Prodromal angle closure glaucoma" EXACT [] xref: ICD10CM:H40.23 xref: ICD9CM:365.21 xref: SNOMEDCT_US_2023_03_01:65460003 xref: UMLS_CUI:C0154945 is_a: DOID:1405 ! primary angle-closure glaucoma [Term] id: DOID:1355 name: paranasal sinus lymphoma subset: NCIthesaurus synonym: "Lymphoma of Accessory sinus" EXACT [] synonym: "lymphoma of paranasal sinus" EXACT [] xref: NCI:C6068 xref: UMLS_CUI:C1335339 is_a: DOID:0050619 ! paranasal sinus cancer is_a: DOID:0060058 ! lymphoma [Term] id: DOID:13550 name: angle-closure glaucoma def: "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis." [url:https\://en.wikipedia.org/wiki/Glaucoma, url:https\://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma] subset: NCIthesaurus synonym: "ACG - Angle-closure glaucoma" EXACT [] synonym: "Angle Closure Glaucoma" EXACT [] synonym: "Closed angle glaucoma" EXACT [] synonym: "Narrow cleft glaucoma" EXACT [] synonym: "primary open-angle glaucoma with narrow angles" EXACT [] xref: MESH:D015812 xref: NCI:C34639 xref: SNOMEDCT_US_2023_03_01:270882001 xref: UMLS_CUI:C0017605 is_a: DOID:1686 ! glaucoma [Term] id: DOID:13554 name: obsolete gonococcal peritonitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease is_obsolete: true [Term] id: DOID:13555 name: obsolete pharyngeal gonorrhea subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Gonococcal infection of pharynx" EXACT [] synonym: "gonococcal pharyngitis" EXACT [] synonym: "Gonorrhea of pharynx (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13556 name: obsolete gonococcal keratosis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Gonococcal blennorrhagica" EXACT [] synonym: "Gonococcal keratosis (blennorrhagica)" EXACT [] synonym: "Gonococcal keratosis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13558 name: obsolete gonococcal urethritis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Gonococcal Urethritis" EXACT [] synonym: "Gonococcal urethritis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1356 name: obsolete lymphoma by site is_obsolete: true [Term] id: DOID:13560 name: subserous uterine fibroid def: "An uterine fibroid that is located adjacent to the outside of the uterus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22583728] synonym: "subserous leiomyoma of uterus" EXACT [] xref: ICD10CM:D25.2 xref: ICD9CM:218.2 xref: SNOMEDCT_US_2023_03_01:95280005 xref: UMLS_CUI:C0153995 is_a: DOID:13223 ! uterine fibroid [Term] id: DOID:13561 name: optic disk drusen synonym: "Drusen of optic disc" EXACT [] synonym: "optic nerve head drusen" EXACT [] xref: ICD10CM:H47.32 xref: ICD9CM:377.21 xref: MESH:D015594 xref: SNOMEDCT_US_2023_03_01:33629003 xref: UMLS_CUI:C0029128 is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:13562 name: obsolete glaucoma associated with pupillary block synonym: "Glaucoma associated with pupillary block (disorder)" EXACT [] synonym: "secondary angle-closure glaucoma with pupil block" EXACT [] is_obsolete: true [Term] id: DOID:13564 name: aspergillosis def: "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system." [url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/Aspergillosis/, url:http\://www.mayoclinic.com/print/aspergillosis/DS00950/METHOD=print&DSECTION=all] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Infection due to Aspergillus" EXACT [] xref: GARD:5856 xref: ICD10CM:B44 xref: ICD9CM:117.3 xref: MESH:D001228 xref: NCI:C2886 xref: SNOMEDCT_US_2023_03_01:266218008 xref: UMLS_CUI:C0004030 is_a: DOID:2473 ! opportunistic mycosis property_value: exactMatch "MESH:D001228" xsd:string [Term] id: DOID:13565 name: neuroaspergillosis def: "An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aspergillosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/17377359] subset: DO_infectious_disease_slim xref: MESH:D020953 xref: UMLS_CUI:C0752342 is_a: DOID:13564 ! aspergillosis is_a: DOID:863 ! nervous system disease property_value: exactMatch "MESH:D020953" xsd:string [Term] id: DOID:13566 name: tibial collateral ligament bursitis xref: ICD9CM:726.62 xref: SNOMEDCT_US_2023_03_01:202869006 xref: UMLS_CUI:C0158315 is_a: DOID:204 ! enthesopathy [Term] id: DOID:1357 name: maxillary sinus cancer alt_id: DOID:2372 subset: NCIthesaurus synonym: "malignant neoplasm of antrum" EXACT [] synonym: "malignant tumor of the maxillary sinus" EXACT [] xref: ICD10CM:C31.0 xref: ICD9CM:160.2 xref: NCI:C3540 xref: NCI:C9332 xref: SNOMEDCT_US_2023_03_01:93889000 xref: UMLS_CUI:C0153476 xref: UMLS_CUI:C0740487 is_a: DOID:0050619 ! paranasal sinus cancer [Term] id: DOID:13573 name: obsolete schizo-affective type schizophrenia chronic state with acute exacerbation is_obsolete: true [Term] id: DOID:13574 name: cortical senile cataract def: "A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging." [url:https\://en.wikipedia.org/wiki/Cataract] xref: ICD9CM:366.15 xref: SNOMEDCT_US_2023_03_01:193588001 xref: UMLS_CUI:C0154980 is_a: DOID:9669 ! senile cataract [Term] id: DOID:13575 name: non-renal secondary hyperparathyroidism xref: ICD9CM:252.02 xref: UMLS_CUI:C1456268 is_a: DOID:13543 ! hyperparathyroidism [Term] id: DOID:13576 name: twin-to-twin transfusion syndrome def: "A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced." [url:https\://www.nationwidechildrens.org/conditions/twin-to-twin-transfusion-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK563133/] subset: NCIthesaurus synonym: "Fetal blood loss from fetal hemorrhage into co-twin" EXACT [] synonym: "Fetal hemorrhage into co-twin" EXACT [] synonym: "Twin to twin transfusion" EXACT [] synonym: "Twin-to-twin blood transfer" EXACT [] xref: ICD10CM:O43.02 xref: MESH:D005330 xref: NCI:C113824 xref: SNOMEDCT_US_2023_03_01:13404009 xref: UMLS_CUI:C2909036 is_a: DOID:11244 ! neonatal anemia [Term] id: DOID:13577 name: obsolete ascorbic acid deficiency synonym: "Ascorbic acid (vitamin C) deficiency" EXACT [] synonym: "Ascorbic acid defic." EXACT [] synonym: "Ascorbic acid deficiency" EXACT [] synonym: "Ascorbic acid deficiency (disorder)" EXACT [] synonym: "deficiency of ascorbic acid (disorder)" EXACT [] synonym: "deficiency of vitamin C" EXACT [] synonym: "vitamin C deficiency" EXACT [] is_obsolete: true [Term] id: DOID:13579 name: kwashiorkor def: "A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone." [url:https\://www.ncbi.nlm.nih.gov/books/NBK507876/] synonym: "Kwashiokor" EXACT [] synonym: "Nutritional edema with dyspigmentation of skin and hair" EXACT [] synonym: "Nutritional oedema with dyspigmentation of skin and/or hair" EXACT [] xref: ICD10CM:E40 xref: ICD9CM:260 xref: MESH:D007732 xref: SNOMEDCT_US_2023_03_01:154730001 xref: UMLS_CUI:C0022806 is_a: DOID:11801 ! protein-energy malnutrition [Term] id: DOID:1358 name: maxillary sinus benign neoplasm subset: NCIthesaurus synonym: "neoplasm of maxillary sinus" EXACT [] synonym: "tumor of Maxillofacial sinus" EXACT [] xref: MESH:D008444 xref: NCI:C3219 xref: SNOMEDCT_US_2023_03_01:126676009 xref: UMLS_CUI:C0024958 is_a: DOID:1350 ! paranasal sinus benign neoplasm [Term] id: DOID:13580 name: cholestasis def: "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum." [url:https\://en.wikipedia.org/wiki/Cholestasis] subset: NCIthesaurus synonym: "bile occlusion" EXACT [] synonym: "Obstruction of bile duct" EXACT [] xref: ICD10CM:K83.1 xref: ICD9CM:576.2 xref: MESH:D002779 xref: NCI:C83006 xref: SNOMEDCT_US_2023_03_01:33688009 xref: UMLS_CUI:C0008370 is_a: DOID:4138 ! bile duct disease [Term] id: DOID:13581 name: obsolete magnesium deficiency synonym: "Magnesium deficiency" EXACT [] synonym: "magnesium deficiency" EXACT [] synonym: "Magnesium deficiency (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13582 name: obsolete potassium deficiency synonym: "K deficiency" EXACT [] synonym: "potassium deficiency" EXACT [] is_obsolete: true [Term] id: DOID:13583 name: obsolete fetal nutrition disorder synonym: "disorder of fetal nutrition (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13585 name: alveolar periostitis synonym: "Alveolitis of jaw" EXACT [] synonym: "Dry socket" EXACT [] synonym: "Dry tooth socket" EXACT [] xref: ICD10CM:M27.3 xref: ICD9CM:526.5 xref: MESH:D004368 xref: SNOMEDCT_US_2023_03_01:251331003 xref: UMLS_CUI:C0013240 is_a: DOID:9957 ! periostitis [Term] id: DOID:13589 name: female infertility of uterine origin def: "A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year." [url:https\://en.wikipedia.org/wiki/Female_infertility] synonym: "Infertility, female, of uterine origin" EXACT [] xref: ICD10CM:N97.2 xref: ICD9CM:628.3 xref: SNOMEDCT_US_2023_03_01:156063002 xref: UMLS_CUI:C0156416 is_a: DOID:345 ! uterine disease [Term] id: DOID:13593 name: eclampsia alt_id: DOID:13592 def: "A pre-eclampsia characterized by the presence of seizures." [url:http\://ghr.nlm.nih.gov/condition/preeclampsia, url:https\://www.ncbi.nlm.nih.gov/pubmed/24400024] subset: DO_rare_slim subset: NCIthesaurus synonym: "Eclampsia in puerperium" EXACT [] synonym: "Eclampsia, postpartum" EXACT [] synonym: "Postpartum eclampsia" EXACT [] xref: GARD:6316 xref: ICD10CM:O15 xref: MESH:D004461 xref: NCI:C87167 xref: SNOMEDCT_US_2023_03_01:156111007 xref: UMLS_CUI:C0013537 is_a: DOID:10591 ! pre-eclampsia [Term] id: DOID:136 name: vaginal carcinosarcoma alt_id: DOID:1904 alt_id: DOID:6172 def: "A vaginal carcinoma that has_material_basis_in connective tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12588439] subset: NCIthesaurus synonym: "malignant vaginal mixed epithelial and mesenchymal tumor" EXACT [] synonym: "vaginal malignant mixed mesodermal (mullerian) tumor" EXACT [] synonym: "vaginal malignant mixed Mullerian tumor" EXACT [] synonym: "vaginal mixed epithelial and mesenchymal tumor" EXACT [] xref: NCI:C40274 xref: NCI:C40276 xref: NCI:C40278 xref: UMLS_CUI:C1512974 xref: UMLS_CUI:C1519918 xref: UMLS_CUI:C1519924 is_a: DOID:0050918 ! vaginal carcinoma [Term] id: DOID:1360 name: frontal sinus cancer subset: NCIthesaurus synonym: "malignant neoplasm of frontal sinus" EXACT [] synonym: "malignant tumor of frontal sinus" EXACT [] synonym: "malignant tumor of the Frontal sinus" EXACT [] xref: ICD10CM:C31.2 xref: ICD9CM:160.4 xref: NCI:C3542 xref: SNOMEDCT_US_2023_03_01:93808006 xref: UMLS_CUI:C0153478 is_a: DOID:0050619 ! paranasal sinus cancer [Term] id: DOID:13601 name: obsolete enteropathogenic Escherichia coli infectious disease def: "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea." [url:http\://www.textbookofbacteriology.net/e.coli_4.html] subset: gram-negative_bacterial_infectious_disease synonym: "Enteropathogenic Escherichia coli gastrointestinal tract infection" EXACT [] synonym: "Enteropathogenic Escherichia coli gastrointestinal tract infection (disorder)" EXACT [] synonym: "intestinal infection due to enteropathogenic E. coli" EXACT [] is_obsolete: true [Term] id: DOID:13602 name: obsolete acute schizophrenic episode subchronic state is_obsolete: true [Term] id: DOID:13603 name: obstructive jaundice def: "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction." [url:https\://en.wikipedia.org/wiki/Jaundice] subset: NCIthesaurus synonym: "Cholestatic Jaundice" EXACT [] synonym: "Cholestatic jaundice syndrome" EXACT [] synonym: "Obstructive hyperbilirubinemia" EXACT [] xref: MESH:D041781 xref: NCI:C34742 xref: SNOMEDCT_US_2023_03_01:59848001 xref: UMLS_CUI:C0022354 is_a: DOID:13580 ! cholestasis [Term] id: DOID:13604 name: obsolete acute schizophrenic episode chronic state with acute exacerbation is_obsolete: true [Term] id: DOID:13605 name: obsolete acute schizophrenic episode chronic state is_obsolete: true [Term] id: DOID:13608 name: biliary atresia def: "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder." [url:http\://en.wikipedia.org/wiki/Biliary_atresia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000215.htm] subset: DO_rare_slim subset: NCIthesaurus synonym: "Atresia of bile duct" EXACT [] synonym: "biliary atresia, congenital" EXACT [] synonym: "Congenital biliary atresia" EXACT [] xref: GARD:12010 xref: ICD10CM:Q44.2 xref: ICD9CM:751.61 xref: MESH:D001656 xref: MIM:210500 xref: NCI:C34421 xref: ORDO:30391 xref: SNOMEDCT_US_2023_03_01:77480004 xref: UMLS_CUI:C0005411 is_a: DOID:13580 ! cholestasis [Term] id: DOID:1361 name: frontal sinus benign neoplasm subset: NCIthesaurus synonym: "neoplasm of frontal sinus" EXACT [] synonym: "tumor of the Frontal sinus" EXACT [] xref: NCI:C4419 xref: SNOMEDCT_US_2023_03_01:126678005 xref: UMLS_CUI:C0345672 is_a: DOID:1350 ! paranasal sinus benign neoplasm [Term] id: DOID:13619 name: extrahepatic cholestasis def: "A cholestasis resulting from causes located_in bile ducts outside the liver." [url:https\://medlineplus.gov/ency/article/000215.htm] subset: NCIthesaurus synonym: "extrahepatic biliary Stasis" EXACT [] synonym: "extrahepatic obstructive biliary disease" EXACT [] xref: MESH:D001651 xref: NCI:C34420 xref: SNOMEDCT_US_2023_03_01:20719006 xref: UMLS_CUI:C0005398 is_a: DOID:13580 ! cholestasis [Term] id: DOID:1362 name: paranasal sinus sarcoma def: "A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient] subset: NCIthesaurus synonym: "sarcoma of Accessory sinus" EXACT [] xref: NCI:C6849 xref: UMLS_CUI:C1335342 is_a: DOID:0050619 ! paranasal sinus cancer is_a: DOID:1115 ! sarcoma [Term] id: DOID:13620 name: patent foramen ovale subset: NCIthesaurus synonym: "Atrial septal defect within oval fossa" EXACT [] synonym: "Defect, Patent or persistent, ostium secundum" EXACT [] synonym: "foramen ovale patent" EXACT [] synonym: "Ostium secundum type atrial septal defect" EXACT [] synonym: "Persistent ostium secundum" EXACT [] xref: ICD10CM:Q21.12 xref: MESH:D054092 xref: NCI:C34619 xref: SNOMEDCT_US_2023_03_01:268316001 xref: UMLS_CUI:C0016522 is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:13622 name: campylobacteriosis alt_id: DOID:13621 def: "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever." [url:http\://en.wikipedia.org/wiki/Campylobacteriosis, url:https\://www.health.ny.gov/diseases/communicable/campylobacteriosis/fact_sheet.htm] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease xref: MESH:D002169 xref: SNOMEDCT_US_2023_03_01:86500004 xref: UMLS_CUI:C0006818 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:2326 ! gastroenteritis [Term] id: DOID:13623 name: obsolete staphylococcal enterocolitis def: "A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea." [url:http\://www.merck.com/mmpe/sec14/ch171/ch171c.html?qt=staphylococcus&alt=sh#S14_CH171_T001] subset: gram-positive_bacterial_infectious_disease synonym: "intestinal infection due to staphylococcus" EXACT [] synonym: "Staphylococcal enterocolitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13626 name: photokeratitis subset: NCIthesaurus xref: ICD10CM:H16.13 xref: ICD9CM:370.24 xref: NCI:C118750 xref: SNOMEDCT_US_2023_03_01:1714005 xref: UMLS_CUI:C0155078 is_a: DOID:4677 ! keratitis [Term] id: DOID:13628 name: favism def: "A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans." [url:http\://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency] subset: NCIthesaurus xref: ICD10CM:D55.0 xref: MESH:D005236 xref: NCI:C34607 xref: SNOMEDCT_US_2023_03_01:154801000 xref: UMLS_CUI:C0015702 is_a: DOID:2862 ! glucosephosphate dehydrogenase deficiency [Term] id: DOID:13629 name: dentine erosion xref: ICD9CM:521.32 xref: UMLS_CUI:C1456162 is_a: DOID:2498 ! tooth erosion [Term] id: DOID:1363 name: ethmoid sinus cancer subset: NCIthesaurus synonym: "malignant neoplasm of ethmoidal sinus" EXACT [] synonym: "malignant tumor of ethmoid sinus" EXACT [] synonym: "malignant tumor of ethmoidal sinus" EXACT [] xref: ICD10CM:C31.1 xref: ICD9CM:160.3 xref: NCI:C3541 xref: SNOMEDCT_US_2023_03_01:363426009 xref: UMLS_CUI:C0153477 is_a: DOID:0050619 ! paranasal sinus cancer [Term] id: DOID:13636 name: Fanconi anemia def: "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair." [url:http\://en.wikipedia.org/wiki/Fanconi_anemia, url:http\://ghr.nlm.nih.gov/condition/fanconi-anemia, url:http\://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].\nOMIM mapping by NeuroDevNet. [LS]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Fanconi anaemia" EXACT [] synonym: "Fanconi pancytopenia" EXACT [] synonym: "Fanconi panmyelopathy" EXACT [] synonym: "Fanconi's anaemia" EXACT [] synonym: "Fanconi's anemia" EXACT [] xref: GARD:6425 xref: ICD10CM:D61.09 xref: MESH:D005199 xref: MIM:PS227650 xref: NCI:C62505 xref: ORDO:84 xref: SNOMEDCT_US_2023_03_01:30575002 xref: UMLS_CUI:C0015625 is_a: DOID:1342 ! congenital hypoplastic anemia [Term] id: DOID:1364 name: ethmoidal sinus benign neoplasm subset: NCIthesaurus synonym: "neoplasm of ethmoidal sinus" EXACT [] synonym: "tumor of ethmoidal sinus" EXACT [] xref: NCI:C4416 xref: SNOMEDCT_US_2023_03_01:126677000 xref: UMLS_CUI:C0345668 is_a: DOID:1350 ! paranasal sinus benign neoplasm [Term] id: DOID:13641 name: exfoliation syndrome def: "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157521/] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Pseudoexfoliation glaucoma" EXACT [] synonym: "Pseudoexfoliation syndrome" EXACT [] xref: EFO:0004235 xref: ICD9CM:365.52 xref: MESH:D017889 xref: MIM:177650 xref: NCI:C129025 xref: SNOMEDCT_US_2023_03_01:111514006 xref: UMLS_CUI:C0206368 is_a: DOID:12571 ! phacogenic glaucoma is_a: DOID:240 ! iris disease property_value: exactMatch "MESH:D017889" xsd:string [Term] id: DOID:13643 name: obsolete pneumococcal septicemia subset: gram-positive_bacterial_infectious_disease synonym: "Pneumococcal septicemia (disorder)" EXACT [] synonym: "Pneumococcal septicemia [Streptococcus pneumoniae septicemia]" EXACT [] synonym: "Septicaemia due to streptococcus pneumoniae" EXACT [] synonym: "Septicemia due to streptococcus pneumoniae (disorder)" EXACT [] synonym: "Streptococcus pneumoniae septicemia" EXACT [] is_obsolete: true [Term] id: DOID:13644 name: obsolete streptococcal septicemia subset: gram-positive_bacterial_infectious_disease synonym: "Streptococcal septicemia (disorder)" EXACT [] synonym: "Streptococcal septicemia, unspecified (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13648 name: obsolete paranoid state alt_id: DOID:13647 is_obsolete: true [Term] id: DOID:13649 name: polyneuropathy in collagen vascular disease xref: ICD9CM:357.1 xref: SNOMEDCT_US_2023_03_01:193177003 xref: UMLS_CUI:C0154759 is_a: DOID:1389 ! polyneuropathy [Term] id: DOID:13650 name: obsolete joint disorder alt_id: DOID:13851 alt_id: DOID:14229 alt_id: DOID:14273 alt_id: DOID:14281 alt_id: DOID:7102 alt_id: DOID:9932 synonym: "Joint disorder NOS, of ankle and foot (disorder)" EXACT [] synonym: "Joint disorder NOS, of multiple sites" EXACT [] synonym: "Joint disorder NOS, of multiple sites (disorder)" EXACT [] synonym: "Joint disorder NOS, of shoulder region" EXACT [] synonym: "Joint disorder NOS, of shoulder region (disorder)" EXACT [] synonym: "Joint disorder NOS, of the forearm" EXACT [] synonym: "Joint disorder NOS, of the forearm (disorder)" EXACT [] synonym: "Joint disorder NOS, of the lower leg" EXACT [] synonym: "Joint disorder NOS, of the lower leg (disorder)" EXACT [] synonym: "Joint disorder NOS, of the pelvic region and thigh" EXACT [] synonym: "Joint disorder NOS, of the pelvic region and thigh (disorder)" EXACT [] synonym: "Joint disorder NOS, of the upper arm" EXACT [] synonym: "Joint disorder NOS, of the upper arm (disorder)" EXACT [] synonym: "Unspecified disorder of ankle and foot joint" EXACT [] synonym: "Unspecified disorder of forearm joint" EXACT [] synonym: "Unspecified disorder of joint of pelvic region and thigh" EXACT [] synonym: "Unspecified disorder of joint of shoulder region" EXACT [] synonym: "Unspecified disorder of lower leg joint" EXACT [] synonym: "Unspecified disorder of upper arm joint" EXACT [] synonym: "Unspecified joint disorder of multiple sites" EXACT [] is_obsolete: true [Term] id: DOID:13651 name: eversion of lacrimal punctum xref: ICD10CM:H04.52 xref: ICD9CM:375.51 xref: SNOMEDCT_US_2023_03_01:28244003 xref: UMLS_CUI:C0155243 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:13653 name: stenosis of lacrimal punctum xref: ICD10CM:H04.56 xref: ICD9CM:375.52 xref: SNOMEDCT_US_2023_03_01:74783009 xref: UMLS_CUI:C0155244 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:13654 name: stenosis of lacrimal passage synonym: "Stenosis of lacrimal canaliculi" EXACT [] xref: ICD10CM:H04.54 xref: ICD9CM:375.53 xref: SNOMEDCT_US_2023_03_01:81345003 xref: UMLS_CUI:C0155245 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:13655 name: acquired tear duct stenosis synonym: "acquired nasolacrimal duct stenosis" EXACT [] synonym: "acquired stenosis of nasolacrimal duct" EXACT [] synonym: "Stenosis of nasolacrimal duct, acquired" EXACT [] synonym: "Tear duct - acquired stenosis" EXACT [] xref: ICD10CM:H04.55 xref: ICD9CM:375.56 xref: SNOMEDCT_US_2023_03_01:90056003 xref: UMLS_CUI:C0155248 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:13656 name: gastrin secretion abnormality xref: ICD9CM:251.5 xref: SNOMEDCT_US_2023_03_01:47344007 xref: UMLS_CUI:C0000774 is_a: DOID:1428 ! endocrine pancreas disease [Term] id: DOID:13658 name: infective urethral stricture xref: ICD9CM:598.01 xref: UMLS_CUI:C0156282 is_a: DOID:1829 ! urethral stricture [Term] id: DOID:13662 name: ulcer of anus and rectum synonym: "anal and rectal ulcer" EXACT [] xref: ICD10CM:K62.6 xref: ICD9CM:569.41 xref: SNOMEDCT_US_2023_03_01:197227009 xref: UMLS_CUI:C0400832 is_a: DOID:1285 ! rectal disease [Term] id: DOID:13663 name: obsolete acute suppurative otitis media with tympanic membrane intact def: "A purulent acute otitis media with no perforation of the tympanic membrane." [] synonym: "acute suppurative otitis media without spontaneous rupture of ear drum" EXACT [] synonym: "acute suppurative otitis media without spontaneous rupture of ear drum (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13664 name: post-vaccinal encephalitis synonym: "Encephalitis following immunization procedures" EXACT [] synonym: "Postvaccinal encephalomyelitis" EXACT [] xref: ICD10CM:G04.02 xref: MESH:D004673 xref: SNOMEDCT_US_2023_03_01:31367003 xref: UMLS_CUI:C0751101 is_a: DOID:9588 ! encephalitis [Term] id: DOID:13668 name: obsolete meningococcal encephalitis subset: gram-negative_bacterial_infectious_disease synonym: "Meningococcal encephalitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13670 name: obsolete hypocalcemia and hypomagnesemia of newborn synonym: "Hypocalcemia and/or hypomagnesemia of newborn (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13676 name: posterior scleritis xref: ICD10CM:H15.03 xref: ICD9CM:379.07 xref: SNOMEDCT_US_2023_03_01:194144007 xref: UMLS_CUI:C0155357 is_a: DOID:13452 ! scleritis [Term] id: DOID:13677 name: SAPHO syndrome def: "A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis." [url:https\://www.ncbi.nlm.nih.gov/articles/PMC8802951/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome" EXACT [] xref: GARD:7606 xref: MESH:D020083 xref: NCI:C119049 xref: SNOMEDCT_US_2023_03_01:60684003 xref: UMLS_CUI:C0263859 is_a: DOID:225 ! syndrome [Term] id: DOID:13679 name: obsolete simple type schizophrenia subchronic state is_obsolete: true [Term] id: DOID:13680 name: obsolete simple type schizophrenia subchronic state with acute exacerbation is_obsolete: true [Term] id: DOID:13681 name: obsolete simple type schizophrenia in remission is_obsolete: true [Term] id: DOID:13682 name: obsolete simple type schizophrenia chronic state is_obsolete: true [Term] id: DOID:13687 name: chronic duodenal ileus xref: ICD10CM:K31.5 xref: ICD9CM:537.2 xref: SNOMEDCT_US_2023_03_01:52232007 xref: UMLS_CUI:C0156087 is_a: DOID:3558 ! duodenal obstruction [Term] id: DOID:13689 name: prostate calculus subset: NCIthesaurus synonym: "calculus of prostate" EXACT [] synonym: "Prostatic lithiasis" EXACT [] synonym: "Prostatic stone" EXACT [] synonym: "Stone of prostate" EXACT [] xref: ICD10CM:N42.0 xref: ICD9CM:602.0 xref: NCI:C26936 xref: SNOMEDCT_US_2023_03_01:155934005 xref: UMLS_CUI:C0149525 is_a: DOID:47 ! prostate disease is_a: DOID:9590 ! lower urinary tract calculus [Term] id: DOID:13690 name: acute gonococcal cystitis def: "An acute cystitis that is caused by gonorrhea." [url:https\://www.aafp.org/pubs/afp/issues/2012/1115/p931.html] synonym: "acute gonorrhea of bladder" EXACT [] synonym: "Gonococcal cystitis" EXACT [] xref: ICD9CM:098.11 xref: SNOMEDCT_US_2023_03_01:24868007 xref: UMLS_CUI:C0153191 is_a: DOID:13148 ! acute cystitis [Term] id: DOID:13691 name: dermoid cyst of skin def: "A dermoid cyst that is located_in the skin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23488469] subset: NCIthesaurus synonym: "skin Dermoid" EXACT [] xref: NCI:C4632 xref: SNOMEDCT_US_2023_03_01:154630005 xref: UMLS_CUI:C0349502 is_a: DOID:2658 ! dermoid cyst is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:13693 name: obsolete disorder of ureter synonym: "disorder of ureter (disorder)" EXACT [] synonym: "Ureteric disease" EXACT [] is_obsolete: true [Term] id: DOID:13694 name: obsolete unilateral vesicoureteral reflux with reflux nephropathy is_obsolete: true [Term] id: DOID:13695 name: obsolete bilateral vesicoureteral reflux with reflux nephropathy is_obsolete: true [Term] id: DOID:13696 name: obsolete vesicoureteral reflux with reflux nephropathy is_obsolete: true [Term] id: DOID:137 name: vaginal squamous papilloma def: "A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6374] subset: NCIthesaurus synonym: "squamous papilloma of vagina" EXACT [] xref: NCI:C6374 xref: UMLS_CUI:C1336943 is_a: DOID:0060114 ! vaginal benign neoplasm [Term] id: DOID:13702 name: obsolete postpartum benign essential hypertension is_obsolete: true [Term] id: DOID:13709 name: premature ejaculation subset: NCIthesaurus xref: ICD10CM:F52.4 xref: ICD9CM:302.75 xref: MESH:D061686 xref: NCI:C94349 xref: SNOMEDCT_US_2023_03_01:123302009 xref: UMLS_CUI:C0033038 is_a: DOID:10132 ! psychosexual disorder [Term] id: DOID:1371 name: uterine corpus adenomatoid tumor def: "An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917104/] subset: NCIthesaurus synonym: "uterine corpus adenomatoid tumour" EXACT [] synonym: "uterine corpus localised epithelial Mesothelioma" EXACT [] synonym: "uterine corpus localized epithelial Mesothelioma" EXACT [] xref: NCI:C27250 xref: UMLS_CUI:C1336902 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:13711 name: dental fluorosis def: "A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation." [url:https\://pubmed.ncbi.nlm.nih.gov/21701193/] subset: NCIthesaurus synonym: "Intrinsic enamel discolouration of fluorosis" EXACT [] synonym: "Mottled teeth" EXACT [] synonym: "Mottling of enamel" EXACT [] xref: ICD10CM:K00.3 xref: ICD9CM:520.3 xref: MESH:D009050 xref: NCI:C85059 xref: SNOMEDCT_US_2023_03_01:30265004 xref: UMLS_CUI:C0026618 is_a: DOID:1091 ! tooth disease [Term] id: DOID:13714 name: anodontia def: "A tooth disease that is characterized by complete absence of permanent teeth." [url:https\://rarediseases.info.nih.gov/diseases/5818/index] subset: DO_rare_slim subset: NCIthesaurus synonym: "Complete absence of teeth" EXACT [] synonym: "Developmental absence of tooth" EXACT [] synonym: "Total anodontia of permanent and deciduous teeth" EXACT [] xref: GARD:5818 xref: ICD10CM:K00.0 xref: ICD9CM:520.0 xref: MESH:D000848 xref: MIM:206780 xref: NCI:C172328 xref: SNOMEDCT_US_2023_03_01:234951001 xref: UMLS_CUI:C0399352 is_a: DOID:1091 ! tooth disease property_value: exactMatch "MESH:D000848" xsd:string [Term] id: DOID:13717 name: mature cataract def: "A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging." [url:https\://en.wikipedia.org/wiki/Cataract] synonym: "Total or mature cataract" EXACT [] synonym: "Total, mature senile cataract" EXACT [] xref: SNOMEDCT_US_2023_03_01:193590000 xref: UMLS_CUI:C0152257 is_a: DOID:9669 ! senile cataract [Term] id: DOID:13720 name: obsolete Schistosoma mattheei infectious disease def: "A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei." [url:http\://en.wikipedia.org/wiki/Schistosomiasis] synonym: "Infection by Schistosoma Mattheii" EXACT [] synonym: "Infection by Schistosoma mattheii (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13722 name: neuroschistosomiasis def: "A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure." [url:https\://www.ajtmh.org/view/journals/tpmd/76/5/article-p964.xml, url:https\://www.ncbi.nlm.nih.gov/pubmed/16138195, url:https\://wwwnc.cdc.gov/eid/article/12/9/06-0113_article] subset: DO_infectious_disease_slim xref: MESH:D020818 xref: SNOMEDCT_US_2023_03_01:1177012000 xref: UMLS_CUI:C0752191 is_a: DOID:1395 ! schistosomiasis is_a: DOID:319 ! spinal cord disease is_a: DOID:936 ! brain disease [Term] id: DOID:13723 name: obsolete Schistosoma bovis infectious disease def: "A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/10333324] synonym: "Infection by Schistosoma Bovis" EXACT [] synonym: "Infection by Schistosoma bovis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13724 name: scurvy def: "A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing." [url:https\://medlineplus.gov/ency/article/000355.htm, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567249/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10406 xref: ICD10CM:E54 xref: MESH:D012614 xref: MIM:240400 xref: NCI:C35010 xref: SNOMEDCT_US_2023_03_01:267493006 xref: UMLS_CUI:C0036474 is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:13725 name: beriberi def: "A thiamine deficiency disease that is characterized by being severe and chronic." [url:https\://en.wikipedia.org/wiki/Thiamine_deficiency, url:https\://medlineplus.gov/ency/article/000339.htm, url:https\://rarediseases.info.nih.gov/diseases/9948/beriberi] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:9948 xref: ICD10CM:E51.1 xref: ICD9CM:265.0 xref: MESH:D001602 xref: NCI:C34418 xref: SNOMEDCT_US_2023_03_01:267491008 xref: UMLS_CUI:C0005122 is_a: DOID:0070313 ! thiamine deficiency disease property_value: exactMatch "MESH:D001602" xsd:string [Term] id: DOID:1373 name: endometrial stromal nodule def: "An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma." [url:http\://www.pathologyoutlines.com/topic/uterusstromalnodule.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/26221551] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8930/0 xref: NCI:C4262 xref: SNOMEDCT_US_2023_03_01:189810002 xref: UMLS_CUI:C0334485 is_a: DOID:0060095 ! uterine benign neoplasm [Term] id: DOID:13730 name: malignant renovascular hypertension is_a: DOID:1073 ! renal hypertension is_a: DOID:13731 ! malignant secondary hypertension [Term] id: DOID:13731 name: malignant secondary hypertension xref: ICD9CM:405.0 xref: SNOMEDCT_US_2023_03_01:89242004 xref: UMLS_CUI:C0155617 is_a: DOID:11130 ! secondary hypertension [Term] id: DOID:13732 name: panophthalmitis xref: ICD9CM:360.02 xref: MESH:D010202 xref: SNOMEDCT_US_2023_03_01:33382000 xref: UMLS_CUI:C0030332 is_a: DOID:9724 ! purulent endophthalmitis [Term] id: DOID:13734 name: obsolete AIDS-related Pneumocystis jirovecii pneumonia def: "A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000671.htm] is_obsolete: true [Term] id: DOID:13736 name: uterine inflammatory disease def: "A uterine disease that is characterized by inflammation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25153777] synonym: "Inflammatory disease of the uterus" EXACT [] xref: ICD10CM:N71.9 xref: ICD9CM:615.9 xref: SNOMEDCT_US_2023_03_01:28783002 xref: UMLS_CUI:C0269047 is_a: DOID:345 ! uterine disease [Term] id: DOID:13738 name: hepatic infarction synonym: "infarct of liver" EXACT [] xref: ICD10CM:K76.3 xref: ICD9CM:573.4 xref: MESH:D000081011 xref: SNOMEDCT_US_2023_03_01:17890003 xref: UMLS_CUI:C0151731 is_a: DOID:272 ! hepatic vascular disease [Term] id: DOID:13739 name: nutmeg liver synonym: "chronic passive congestion of liver" EXACT [] xref: ICD10CM:K76.1 xref: ICD9CM:573.0 xref: SNOMEDCT_US_2023_03_01:34736002 xref: UMLS_CUI:C0156195 is_a: DOID:272 ! hepatic vascular disease [Term] id: DOID:13742 name: neurofibroma of spinal cord subset: NCIthesaurus xref: NCI:C5145 xref: UMLS_CUI:C1336047 is_a: DOID:5612 ! spinal cancer is_a: DOID:962 ! neurofibroma [Term] id: DOID:13743 name: spinal cord lipoma def: "A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord." [url:http\://neurosurgery.ucla.edu/spinal-cord-lipomas-lipomyelomeningoceles] subset: NCIthesaurus synonym: "Lipoma of spinal cord" EXACT [] xref: NCI:C4619 xref: SNOMEDCT_US_2023_03_01:189017000 xref: UMLS_CUI:C0347446 is_a: DOID:319 ! spinal cord disease is_a: DOID:6293 ! central nervous system lipoma [Term] id: DOID:1375 name: neonatal urinary tract infectious disease synonym: "urinary tract infection of newborn" EXACT [] xref: ICD10CM:P39.3 xref: ICD9CM:771.82 xref: SNOMEDCT_US_2023_03_01:12301009 xref: UMLS_CUI:C0235815 is_a: DOID:18 ! urinary system disease [Term] id: DOID:13753 name: obsolete Histoplasma duboisii meningitis def: "An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures." [url:http\://www.springerlink.com/content/x0p18824442np761/fulltext.pdf] synonym: "Histoplasma duboisii with meningitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13754 name: obsolete Histoplasma capsulatum meningitis def: "An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures." [url:http\://www.springerlink.com/content/x0p18824442np761/fulltext.pdf] synonym: "Histoplasma capsulatum with meningitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13755 name: obsolete Histoplasma duboisii pericarditis def: "An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough." [url:http\://emedicine.medscape.com/article/299054-overview, url:https\://www.ncbi.nlm.nih.gov/pubmed/16924162] synonym: "Histoplasma duboisii with pericarditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13756 name: epiphora due to insufficient drainage xref: ICD10CM:H04.22 xref: ICD9CM:375.22 xref: SNOMEDCT_US_2023_03_01:85042000 xref: UMLS_CUI:C0155234 is_a: DOID:13757 ! excessive tearing [Term] id: DOID:13757 name: excessive tearing subset: NCIthesaurus synonym: "Epiphora" EXACT [] synonym: "Excessive tear production" EXACT [] synonym: "Watering eye" EXACT [] xref: ICD10CM:H04.2 xref: ICD9CM:375.2 xref: MESH:D007766 xref: NCI:C50552 xref: SNOMEDCT_US_2023_03_01:49393005 xref: UMLS_CUI:C0152227 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:1376 name: obsolete perinatal infectious disease is_obsolete: true [Term] id: DOID:13760 name: Pthirus pubis infestation def: "A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin." [url:http\://www.cdc.gov/lice/pubic/disease.html] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: sexually_transmitted_infectious_disease synonym: "crabs" EXACT [] synonym: "Infestation by Phthirus pubis" EXACT [] synonym: "Pediculosis Pubis" EXACT [] synonym: "Pediculus pubis" EXACT [] synonym: "Phthiriasis pubis" EXACT [] synonym: "Phthirus pubis" EXACT [] synonym: "Phthirus/pediculus pubis - pubic lice - crabs" EXACT [] xref: ICD10CM:B85.3 xref: ICD9CM:132.2 xref: NCI:C35777 xref: SNOMEDCT_US_2023_03_01:71011005 xref: UMLS_CUI:C0030759 is_a: DOID:37 ! skin disease is_a: DOID:5502 ! lice infestation [Term] id: DOID:13762 name: obsolete bovine trypanosomiasis def: "A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16965857] is_obsolete: true [Term] id: DOID:13763 name: obsolete dourine def: "A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs." [url:http\://en.wikipedia.org/wiki/Dourine, url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/dourine.pdf] synonym: "Covering disease" EXACT [] synonym: "Infection by Trypanosoma equiperdum (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13767 name: clonorchiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." [url:http\://en.wikipedia.org/wiki/Clonorchiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Clonorchiasis.htm] subset: DO_infectious_disease_slim synonym: "Oriental liver fluke disease" EXACT [] xref: ICD10CM:B66.1 xref: ICD9CM:121.1 xref: MESH:D003003 xref: SNOMEDCT_US_2023_03_01:11938002 xref: UMLS_CUI:C0009021 is_a: DOID:409 ! liver disease is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:13768 name: opisthorchiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and cholangiocarcinoma." [url:http\://en.wikipedia.org/wiki/Opisthorchiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim synonym: "Infection by Opisthorchis" EXACT [] xref: GARD:9746 xref: ICD10CM:B66.0 xref: ICD9CM:121.0 xref: MESH:D009889 xref: SNOMEDCT_US_2023_03_01:187124006 xref: UMLS_CUI:C0029106 is_a: DOID:0060262 ! gallbladder disease is_a: DOID:26 ! pancreas disease is_a: DOID:409 ! liver disease is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:13774 name: Addison's disease def: "An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands." [url:http\://en.wikipedia.org/wiki/Addison%27s_disease] subset: DO_rare_slim subset: NCIthesaurus synonym: "Addison disease" EXACT [] synonym: "Addison disease, chronic adrenal insufficiency" EXACT [] synonym: "HYPOADRENOCORTICISM, FAMILIAL" EXACT [] synonym: "primary adrenocortical insufficiency" EXACT [] synonym: "primary hypoadrenalism" EXACT [] xref: GARD:5740 xref: ICD10CM:E27.1 xref: MESH:D000224 xref: MIM:103230 xref: MIM:240200 xref: NCI:C26689 xref: SNOMEDCT_US_2023_03_01:363732003 xref: UMLS_CUI:C0001403 is_a: DOID:10493 ! adrenal cortical hypofunction [Term] id: DOID:13775 name: plantar wart def: "A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot." [url:http\://en.wikipedia.org/wiki/Plantar_wart] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Verruca plantaris" EXACT [] xref: ICD10CM:B07.0 xref: ICD9CM:078.12 xref: NCI:C26913 xref: SNOMEDCT_US_2023_03_01:154363006 xref: UMLS_CUI:C0042548 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:13777 name: epidermodysplasia verruciformis def: "A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body." [url:http\://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6357 xref: MESH:D004819 xref: MIM:PS226400 xref: NCI:C126877 xref: ORDO:302 xref: SNOMEDCT_US_2023_03_01:19138001 xref: UMLS_CUI:C0014522 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease property_value: exactMatch "MESH:D004819" xsd:string [Term] id: DOID:13778 name: chancroid def: "A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers." [url:http\://en.wikipedia.org/wiki/Chancroid] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Ulcus molle, skin" EXACT [] xref: GARD:9522 xref: ICD10CM:A57 xref: ICD9CM:099.0 xref: MESH:D002602 xref: SNOMEDCT_US_2023_03_01:154391003 xref: UMLS_CUI:C0007947 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:37 ! skin disease [Term] id: DOID:1378 name: obsolete uterine corpus mixed epithelial and mesenchymal tumor is_obsolete: true [Term] id: DOID:13781 name: hypermobility syndrome synonym: "benign joint hypermobility" EXACT [] xref: ICD10CM:M35.7 xref: ICD9CM:728.5 xref: SNOMEDCT_US_2023_03_01:85551004 xref: UMLS_CUI:C0152093 is_a: DOID:381 ! arthropathy [Term] id: DOID:13787 name: localized anterior staphyloma synonym: "Anterior staphyloma, localised" EXACT [] synonym: "Anterior staphyloma, localized" EXACT [] synonym: "localised anterior staphyloma" EXACT [] xref: ICD10CM:H15.82 xref: ICD9CM:379.14 xref: SNOMEDCT_US_2023_03_01:21946002 xref: UMLS_CUI:C0155362 is_a: DOID:11595 ! scleral staphyloma [Term] id: DOID:13788 name: equatorial staphyloma xref: ICD10CM:H15.81 xref: ICD9CM:379.13 xref: SNOMEDCT_US_2023_03_01:82146006 xref: UMLS_CUI:C0155361 is_a: DOID:11595 ! scleral staphyloma [Term] id: DOID:13789 name: staphyloma posticum xref: ICD10CM:H15.83 xref: ICD9CM:379.12 xref: SNOMEDCT_US_2023_03_01:87819007 xref: UMLS_CUI:C0155360 is_a: DOID:11595 ! scleral staphyloma [Term] id: DOID:13790 name: acute tympanitis synonym: "acute myringitis" EXACT [] xref: ICD10CM:H73.0 xref: ICD9CM:384.00 xref: SNOMEDCT_US_2023_03_01:297009 xref: UMLS_CUI:C0155460 is_a: DOID:5782 ! tympanic membrane disease [Term] id: DOID:13791 name: myringitis bullosa hemorrhagica def: "A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection." [url:https\://www.nlm.nih.gov/medlineplus/ency/article/001369.htm] synonym: "Bullous myringitis" EXACT [] xref: ICD10CM:H73.01 xref: ICD9CM:384.01 xref: SNOMEDCT_US_2023_03_01:33528003 xref: UMLS_CUI:C0155461 is_a: DOID:5782 ! tympanic membrane disease [Term] id: DOID:13794 name: anterior scleritis xref: ICD10CM:H15.01 xref: ICD9CM:379.03 xref: SNOMEDCT_US_2023_03_01:63454000 xref: UMLS_CUI:C0155353 is_a: DOID:13452 ! scleritis [Term] id: DOID:13799 name: female breast central part cancer def: "A female breast cancer that is located_in the center of the breast." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26060127] synonym: "malignant neoplasm of central part of female breast" EXACT [] synonym: "malignant neoplasm of central portion of female breast" EXACT [] xref: ICD10CM:C50.11 xref: ICD9CM:174.1 xref: SNOMEDCT_US_2023_03_01:188151006 xref: UMLS_CUI:C0153549 is_a: DOID:0050671 ! female breast cancer [Term] id: DOID:138 name: vaginal squamous tumor def: "A vaginal cancer that has_material_basis_in squamous tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23057430] subset: NCIthesaurus xref: NCI:C40242 xref: UMLS_CUI:C1519931 is_a: DOID:119 ! vaginal cancer [Term] id: DOID:1380 name: endometrial cancer alt_id: DOID:5654 def: "A uterine cancer that is located_in tissues lining the uterus." [url:http\://www.cancer.gov/dictionary?CdrID=444987] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "endometrial Ca" EXACT [] synonym: "endometrial neoplasm" EXACT [] synonym: "malignant endometrial neoplasm" EXACT [] synonym: "malignant neoplasm of endometrium" EXACT [] synonym: "neoplasm of endometrium" EXACT [] synonym: "primary malignant neoplasm of endometrium" EXACT [] synonym: "tumor of Endometrium" EXACT [] xref: EFO:0004230 xref: GARD:11981 xref: ICD10CM:C54.1 xref: KEGG:05213 xref: MESH:D016889 xref: MIM:608089 xref: NCI:C27815 xref: NCI:C3012 xref: SNOMEDCT_US_2023_03_01:123844007 xref: SNOMEDCT_US_2023_03_01:188192002 xref: UMLS_CUI:C0007103 xref: UMLS_CUI:C0014170 is_a: DOID:289 ! endometriosis is_a: DOID:363 ! uterine cancer [Term] id: DOID:13800 name: inclusion conjunctivitis def: "A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus." [url:https\://www.visualdx.com/visualdx/diagnosis/inclusion+conjunctivitis?diagnosisId=54853&moduleId=101] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease synonym: "adult inclusion conjunctivitis" EXACT [] synonym: "Chlamydial conjunctivitis" EXACT [] synonym: "Inclusion blennorrhoea" EXACT [] synonym: "inclusion blenorrhea" EXACT [] synonym: "Paratrachoma" RELATED [] xref: GARD:6777 xref: ICD10CM:A74.0 xref: ICD9CM:077.0 xref: MESH:D003235 xref: SNOMEDCT_US_2023_03_01:111840005 xref: UMLS_CUI:C0009770 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:13801 name: pharyngoconjunctival fever def: "A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache." [url:http\://en.wikipedia.org/wiki/Pharyngoconjunctival_fever] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Adenoviral pharyngoconjunctivitis" EXACT [] synonym: "pharyngo-conjunctival fever" EXACT [] xref: ICD9CM:077.2 xref: MESH:D000258 xref: NCI:C34924 xref: SNOMEDCT_US_2023_03_01:70385007 xref: UMLS_CUI:C0031351 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:13809 name: familial combined hyperlipidemia comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "familial multiple lipoprotein-type hyperlipidemia" EXACT [] synonym: "hyperbetalipoproteinemia with prebetalipoproteinemia" EXACT [] synonym: "mixed hyperlipidaemia" EXACT [] synonym: "type IIb hyperlipoproteinemia" EXACT [] xref: ICD10CM:E78.49 xref: MESH:D006950 xref: MIM:144250 xref: NCI:C35637 xref: SNOMEDCT_US_2023_03_01:48190005 xref: UMLS_CUI:C0020474 is_a: DOID:1168 ! familial hyperlipidemia [Term] id: DOID:1381 name: Fox-Fordyce disease def: "A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla." [url:https\://www.ncbi.nlm.nih.gov/articles/PMC4746034/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Fox Fordyce disease" EXACT [] xref: GARD:6462 xref: ICD10CM:L75.2 xref: ICD9CM:705.82 xref: MESH:D005588 xref: NCI:C84716 xref: SNOMEDCT_US_2023_03_01:254682006 xref: UMLS_CUI:C0016632 is_a: DOID:1383 ! sweat gland disease [Term] id: DOID:13810 name: familial hypercholesterolemia def: "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease." [url:http\://en.wikipedia.org/wiki/Familial_hypercholesterolemia] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "familial hyperbetalipoproteinaemia" EXACT [] synonym: "familial hypercholesteremia" EXACT [] synonym: "Fredrickson type IIa hyperlipoproteinemia" EXACT [] synonym: "Fredrickson type IIa lipidaemia" EXACT [] synonym: "hyperbetalipoproteinemia" EXACT [] synonym: "type II hyperlipidemia" EXACT [] xref: GARD:10416 xref: ICD10CM:E78.01 xref: MESH:D006938 xref: MIM:143890 xref: NCI:C34704 xref: ORDO:406 xref: SNOMEDCT_US_2023_03_01:190772003 xref: UMLS_CUI:C0020445 is_a: DOID:1168 ! familial hyperlipidemia [Term] id: DOID:13811 name: chronic subinvolution of uterus def: "A uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18856846] xref: ICD9CM:621.1 xref: SNOMEDCT_US_2023_03_01:53518003 xref: UMLS_CUI:C0156370 is_a: DOID:345 ! uterine disease [Term] id: DOID:13812 name: adhesions of uterus def: "A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26700995] synonym: "Band of uterus" EXACT [] synonym: "Intrauterine adhesions" EXACT [] synonym: "Intrauterine synechiae" EXACT [] xref: SNOMEDCT_US_2023_03_01:301789000 xref: UMLS_CUI:C0241593 is_a: DOID:345 ! uterine disease [Term] id: DOID:13814 name: hypoglossal nerve disease def: "A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve)." [url:https\://www.merckmanuals.com/home/brain\,-spinal-cord\,-and-nerve-disorders/cranial-nerve-disorders/hypoglossal-nerve-disorders] subset: NCIthesaurus synonym: "disorder of 12th nerve" EXACT [] synonym: "disorder of hypoglossal [12th] nerve" EXACT [] synonym: "disorder of hypoglossal nerve" EXACT [] synonym: "disorder of XII nerve" EXACT [] xref: ICD10CM:G52.3 xref: ICD9CM:352.5 xref: MESH:D020437 xref: NCI:C26954 xref: SNOMEDCT_US_2023_03_01:24777009 xref: UMLS_CUI:C0152181 is_a: DOID:3418 ! glossopharyngeal nerve disease [Term] id: DOID:13817 name: obsolete single episode manic disease moderate degree is_obsolete: true [Term] id: DOID:13818 name: obsolete single episode manic disorder mild degree is_obsolete: true [Term] id: DOID:13819 name: lymphogranuloma venereum def: "A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis." [url:http\://en.wikipedia.org/wiki/Lymphogranuloma_venereum] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: sexually_transmitted_infectious_disease synonym: "Climatic or tropical bubo" EXACT [] synonym: "Durand-Nicolas-Favre disease" EXACT [] synonym: "Lymphogranuloma inguinale" EXACT [] synonym: "Poradenitis inguinale" EXACT [] synonym: "Strumous bubo" EXACT [] xref: GARD:9545 xref: ICD10CM:A55 xref: ICD9CM:099.1 xref: MESH:D008219 xref: NCI:C26822 xref: SNOMEDCT_US_2023_03_01:266213004 xref: UMLS_CUI:C0024286 is_a: DOID:9063 ! Ritter's disease is_a: DOID:9113 ! granuloma inguinale [Term] id: DOID:1382 name: miliaria def: "A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts." [url:http\://www.pathologyoutlines.com/topic/skinnontumormiliaria.html, url:https\://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html, url:https\://www.ncbi.nlm.nih.gov/books/NBK537176/, url:https\://www.ncbi.nlm.nih.gov/pubmed/30725861] subset: NCIthesaurus synonym: "eccrine miliaria" EXACT [] synonym: "heat rash" EXACT [] synonym: "sweat rash" EXACT [] xref: ICD10CM:L74.3 xref: MESH:D008883 xref: NCI:C34820 xref: SNOMEDCT_US_2023_03_01:63951004 xref: UMLS_CUI:C0026113 is_a: DOID:1383 ! sweat gland disease [Term] id: DOID:13820 name: obsolete congenital pneumonia synonym: "Congenital pneumonia (disorder)" EXACT [] synonym: "Congenital pneumonia NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13822 name: tetanic cataract def: "A cataract resulting from hypocalcemia." [url:https\://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35068] subset: NCIthesaurus synonym: "Hypocalcaemic cataract" EXACT [] xref: ICD9CM:366.42 xref: NCI:C35068 xref: SNOMEDCT_US_2023_03_01:193607003 xref: UMLS_CUI:C0039613 is_a: DOID:83 ! cataract [Term] id: DOID:13823 name: parasitic eyelid infestation synonym: "Parasitic infestation of eyelid" EXACT [] xref: ICD9CM:373.6 xref: SNOMEDCT_US_2023_03_01:193922006 xref: UMLS_CUI:C0155183 is_a: DOID:9423 ! blepharitis [Term] id: DOID:13825 name: squamous blepharitis xref: ICD10CM:H01.02 xref: ICD9CM:373.02 xref: SNOMEDCT_US_2023_03_01:58912008 xref: UMLS_CUI:C0155174 is_a: DOID:9423 ! blepharitis [Term] id: DOID:1383 name: sweat gland disease def: "A skin disease located_in the sweat glands." [url:https\://meshb.nlm.nih.gov/record/ui?ui=D013543, url:https\://www.ncbi.nlm.nih.gov/pubmed/9448199] xref: ICD10CM:L74.9 xref: ICD9CM:705.9 xref: MESH:D013543 xref: SNOMEDCT_US_2023_03_01:88232005 xref: UMLS_CUI:C0038986 is_a: DOID:37 ! skin disease [Term] id: DOID:13832 name: patent ductus arteriosus comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "ductus arteriosus, Patent" RELATED [] synonym: "Patent ductus Botalli" EXACT [] xref: GARD:7342 xref: ICD10CM:Q25.0 xref: ICD9CM:747.0 xref: MESH:D004374 xref: MIM:607411 xref: NCI:C84492 xref: SNOMEDCT_US_2023_03_01:156928009 xref: UMLS_CUI:C0013274 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:13837 name: obsolete convergence excess or spasm is_obsolete: true [Term] id: DOID:13839 name: extrapyramidal and movement disease xref: ICD10CM:G25.9 xref: ICD9CM:333.90 xref: SNOMEDCT_US_2023_03_01:192866001 xref: UMLS_CUI:C0477355 is_a: DOID:480 ! movement disease [Term] id: DOID:1384 name: obsolete Chlamydia trachomatis urethritis alt_id: DOID:12004 subset: gram-negative_bacterial_infectious_disease synonym: "Chlamydial infection of lower genitourinary tract (disorder)" EXACT [] synonym: "Chlamydial urethritis (disorder)" EXACT [] synonym: "NGU due to Chlamydia trachomatis" EXACT [] synonym: "Nongonococcal urethritis due to Chlamydia trachomatis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13844 name: obsolete suppressed lactation - delivered synonym: "Suppressed lactation - delivered (disorder)" EXACT [] synonym: "Suppressed lactation, with delivery, with or without mention of antepartum condition" EXACT [] is_obsolete: true [Term] id: DOID:13845 name: obsolete suppressed lactation is_obsolete: true [Term] id: DOID:13850 name: obsolete acquired hallux varus synonym: "acquired hallux varus (disorder)" EXACT [] synonym: "Hallux varus (acquired)" EXACT [] synonym: "Hallux varus - acquired" EXACT [] is_obsolete: true [Term] id: DOID:1386 name: abetalipoproteinemia def: "A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS." [url:http\://en.wikipedia.org/wiki/Abetalipoproteinemia, url:http\://rarediseases.info.nih.gov/gard/5/abetalipoproteinemia/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=14] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "familial hypobetalipoproteinemia" EXACT [] synonym: "microsomal triglyceride transfer protein deficiency disease" EXACT [] xref: GARD:5 xref: ICD10CM:E78.6 xref: MESH:D000012 xref: MIM:200100 xref: NCI:C84525 xref: SNOMEDCT_US_2023_03_01:83123000 xref: UMLS_CUI:C0000744 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1387 ! hypolipoproteinemia property_value: exactMatch "MESH:D000012" xsd:string [Term] id: DOID:13861 name: scleroperikeratitis def: "A scleritis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Scleroperikeratitis may progress to sclerosing keratitis, which occurs when the inflammation leads to opacification of the anterior corneal stroma and subsequent vision loss. Scleroperikeratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection." [url:https\://www.wikidata.org/wiki/Q18554619] synonym: "Scleritis with corneal involvement" EXACT [] xref: ICD10CM:H15.04 xref: ICD9CM:379.05 xref: SNOMEDCT_US_2023_03_01:42574005 xref: UMLS_CUI:C0155355 is_a: DOID:13452 ! scleritis [Term] id: DOID:13862 name: acute closed-angle glaucoma def: "A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening further optic nerve damage and visual field loss. Acute closed-angle glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights. Acute closed-angle glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow." [url:https\://en.wikipedia.org/wiki/Glaucoma, url:https\://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma] synonym: "acute angle-closure glaucoma" EXACT [] xref: ICD10CM:H40.21 xref: ICD9CM:365.22 xref: SNOMEDCT_US_2023_03_01:30041005 xref: UMLS_CUI:C0154946 is_a: DOID:1405 ! primary angle-closure glaucoma [Term] id: DOID:13864 name: trochlear nerve disease subset: NCIthesaurus synonym: "disorder of trochlear nerve" EXACT [] synonym: "Superior oblique muscle innervation disorder" EXACT [] synonym: "Trochlear nerve disorder" EXACT [] xref: ICD10CM:H49.1 xref: ICD9CM:378.53 xref: MESH:D020432 xref: NCI:C180994 xref: SNOMEDCT_US_2023_03_01:246781001 xref: SNOMEDCT_US_2023_03_01:67883005 xref: UMLS_CUI:C0271375 xref: UMLS_CUI:C0423092 xref: UMLS_CUI:C0751939 is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:13865 name: facial neuralgia xref: MESH:D005156 xref: SNOMEDCT_US_2023_03_01:4151000119102 xref: UMLS_CUI:C0015467 is_a: DOID:1756 ! facial nerve disease [Term] id: DOID:13866 name: multiple cranial nerve palsy synonym: "Multiple cranial nerve palsies" EXACT [] xref: ICD10CM:G52.7 xref: ICD9CM:352.6 xref: SNOMEDCT_US_2023_03_01:78152008 xref: UMLS_CUI:C0154733 is_a: DOID:3418 ! glossopharyngeal nerve disease [Term] id: DOID:13867 name: focal labyrinthitis def: "A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma." [url:http\://books.google.com/books?id=K6IRAAAAYAAJ&pg=PA934&lpg#v=onepage&q=&f=false] synonym: "Circumscribed labyrinthitis" EXACT [] xref: ICD9CM:386.32 xref: SNOMEDCT_US_2023_03_01:194364005 xref: UMLS_CUI:C0155505 is_a: DOID:1468 ! labyrinthitis [Term] id: DOID:13868 name: hypoactive sexual desire disorder subset: NCIthesaurus synonym: "Lack or loss of sexual desire" EXACT [] xref: ICD10CM:F52.0 xref: ICD9CM:302.71 xref: MESH:D020018 xref: NCI:C94337 xref: SNOMEDCT_US_2023_03_01:78889008 xref: UMLS_CUI:C0020594 is_a: DOID:10132 ! psychosexual disorder [Term] id: DOID:13869 name: obsolete psychosexual dysfunction with male orgasmic disease is_obsolete: true [Term] id: DOID:1387 name: hypolipoproteinemia def: "A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood." [url:https\://en.wikipedia.org/wiki/Hypolipoproteinemia, url:https\://rarediseases.info.nih.gov/diseases/8394/hypolipoproteinemia] subset: DO_rare_slim synonym: "Hypolipoproteinaemia" EXACT [] synonym: "Lipoprotein deficiencies" RELATED [] xref: GARD:8394 xref: ICD10CM:E78.6 xref: ICD9CM:272.5 xref: MESH:D007009 xref: SNOMEDCT_US_2023_03_01:363140000 xref: UMLS_CUI:C0020623 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:1388 name: Tangier disease def: "A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31." [url:https\://pubmed.ncbi.nlm.nih.gov/10431236/] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "familial alpha-lipoprotein deficiency" EXACT [] synonym: "familial high density lipoprotein deficiency" EXACT [] xref: GARD:7731 xref: ICD10CM:E78.6 xref: MESH:D013631 xref: MIM:205400 xref: NCI:C85182 xref: SNOMEDCT_US_2023_03_01:190783007 xref: UMLS_CUI:C0039292 is_a: DOID:1387 ! hypolipoproteinemia property_value: exactMatch "MESH:D013631" xsd:string [Term] id: DOID:13884 name: sick sinus syndrome comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "sinus node infection" EXACT [] xref: ICD10CM:I49.5 xref: MESH:D012804 xref: MIM:163800 xref: MIM:608567 xref: NCI:C62244 xref: ORDO:166282 xref: SNOMEDCT_US_2023_03_01:266307005 xref: UMLS_CUI:C0037052 is_a: DOID:0050824 ! sinoatrial node disease property_value: exactMatch "MESH:D012804" xsd:string [Term] id: DOID:13887 name: obsolete residual chronic schizophrenia synonym: "chronic residual schizophrenia (disorder)" EXACT [] synonym: "Residual schizophrenia, chronic state" EXACT [] is_obsolete: true [Term] id: DOID:1389 name: polyneuropathy def: "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain." [url:https\://en.wikipedia.org/wiki/Polyneuropathy, url:https\://www.virginiamason.org/polyneuropathy] subset: DO_FlyBase_slim subset: NCIthesaurus xref: ICD10CM:A69.22 xref: MESH:D011115 xref: NCI:C26951 xref: SNOMEDCT_US_2023_03_01:193166009 xref: UMLS_CUI:C0152025 is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:13891 name: bird fancier's lung def: "An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1841781/pdf/brmedj02140-0025.pdf] subset: NCIthesaurus synonym: "Avian hypersensitivity Pneumonitis" EXACT [] synonym: "bird breeder's lung" EXACT [] synonym: "bird fancier lung" EXACT [] synonym: "Bird-fancier's lung" EXACT [] synonym: "Bird-fanciers' lung" EXACT [] synonym: "pigeon breeder's lung" EXACT [] synonym: "poultry worker's lung" EXACT [] xref: ICD10CM:J67.2 xref: ICD9CM:495.2 xref: MESH:D001716 xref: NCI:C34425 xref: SNOMEDCT_US_2023_03_01:69339004 xref: UMLS_CUI:C0005592 is_a: DOID:841 ! extrinsic allergic alveolitis [Term] id: DOID:139 name: squamous cell papilloma subset: NCIthesaurus synonym: "Epidermoid papilloma" EXACT [] xref: ICDO:8052/0 xref: MESH:D010212 xref: NCI:C3712 xref: SNOMEDCT_US_2023_03_01:63451008 xref: UMLS_CUI:C0205874 is_a: DOID:2615 ! papilloma [Term] id: DOID:1390 name: hypobetalipoproteinemia def: "A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats." [url:https\://en.wikipedia.org/wiki/Hypobetalipoproteinemia, url:https\://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia, url:https\://www.ncbi.nlm.nih.gov/pubmed/15818469] synonym: "Hypo-beta-lipoproteinemia" EXACT [] xref: MESH:D006995 xref: SNOMEDCT_US_2023_03_01:190786004 xref: UMLS_CUI:C0020597 is_a: DOID:1387 ! hypolipoproteinemia [Term] id: DOID:13902 name: white piedra def: "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft." [url:http\://mycology.adelaide.edu.au/Mycoses/Superficial/White_piedra/] comment: Adding additional UMLS CUI.\nUMLS has piedra, black piedra and white piedra combined.\nDO has these as distinct diseases. subset: DO_infectious_disease_slim synonym: "Tinea blanca" EXACT [] xref: ICD10CM:B36.2 xref: ICD9CM:111.2 xref: MESH:D010854 xref: SNOMEDCT_US_2023_03_01:266218008 xref: SNOMEDCT_US_2023_03_01:35586003 xref: UMLS_CUI:C0031898 xref: UMLS_CUI:C0040249 is_a: DOID:0050133 ! superficial mycosis [Term] id: DOID:13906 name: obsolete malignant pleural effusion synonym: "malignant Pleural Effusion" EXACT [] synonym: "malignant pleural effusion" EXACT [] synonym: "neoplastic pleural effusion (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13909 name: red-green color blindness comment: Xref MGI. subset: DO_rare_slim synonym: "Deutan defect" EXACT [] synonym: "Deuteranopia" EXACT [] synonym: "Reduced red-green discrimination" EXACT [] xref: ICD9CM:368.52 xref: MESH:D003117 xref: MIM:303800 xref: ORDO:319698 xref: SNOMEDCT_US_2023_03_01:246674000 xref: UMLS_CUI:C0155016 is_a: DOID:13399 ! color blindness [Term] id: DOID:1391 name: Norum disease comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "lecithin acyltransferase deficiency" EXACT [] synonym: "LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY" EXACT [] xref: ICD10CM:E78.6 xref: MESH:D007863 xref: MIM:245900 xref: NCI:C84813 xref: SNOMEDCT_US_2023_03_01:238091006 xref: UMLS_CUI:C0023195 is_a: DOID:1387 ! hypolipoproteinemia [Term] id: DOID:13910 name: red color blindness synonym: "Protan defect" EXACT [] synonym: "Protanopia" EXACT [] xref: ICD9CM:368.51 xref: MESH:D003117 xref: MIM:303900 xref: SNOMEDCT_US_2023_03_01:51445007 xref: UMLS_CUI:C0155015 is_a: DOID:13399 ! color blindness [Term] id: DOID:13911 name: achromatopsia def: "A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance." [url:http\://en.wikipedia.org/wiki/Achromatopsia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1418/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382, url:http\://www.sciencedirect.com/science/article/pii/S0161642009010008] subset: DO_rare_slim subset: NCIthesaurus synonym: "ACHM" EXACT OMO:0003012 [] synonym: "Monochromatism" EXACT [] xref: ICD10CM:H53.51 xref: ICD9CM:368.54 xref: MESH:D003117 xref: NCI:C84528 xref: ORDO:49382 xref: SNOMEDCT_US_2023_03_01:56852002 xref: UMLS_CUI:C0152200 is_a: DOID:13399 ! color blindness [Term] id: DOID:13912 name: acquired color blindness subset: NCIthesaurus synonym: "acquired color vision deficiencies" EXACT [] synonym: "acquired color vision deficiency" EXACT [] synonym: "acquired colour blindness" EXACT [] synonym: "acquired colour vision deficiencies" EXACT [] synonym: "acquired colour vision deficiency" EXACT [] xref: ICD10CM:H53.52 xref: ICD9CM:368.55 xref: MESH:D003117 xref: NCI:C118712 xref: SNOMEDCT_US_2023_03_01:71676008 xref: UMLS_CUI:C0155018 is_a: DOID:13399 ! color blindness [Term] id: DOID:13913 name: lumbosacral plexus lesion synonym: "Lumbosacral plexus lesions" EXACT [] xref: ICD9CM:353.1 xref: SNOMEDCT_US_2023_03_01:4062006 xref: UMLS_CUI:C0154735 is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:13918 name: somatization disorder def: "A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin." [url:http\://en.wikipedia.org/wiki/Somatization_disorder] synonym: "Briquet's disorder" EXACT [] synonym: "Polysomatising disorder" RELATED [] synonym: "Somatisation disorder" EXACT [] xref: ICD10CM:F45.0 xref: ICD9CM:300.81 xref: MESH:D013001 xref: SNOMEDCT_US_2023_03_01:60368009 xref: UMLS_CUI:C0520482 is_a: DOID:4737 ! somatoform disorder [Term] id: DOID:13919 name: irregular astigmatism xref: ICD10CM:H52.21 xref: ICD9CM:367.22 xref: SNOMEDCT_US_2023_03_01:47099006 xref: UMLS_CUI:C0152194 is_a: DOID:11782 ! astigmatism [Term] id: DOID:1392 name: pseudopapilledema comment: OMIM mapping confirmed by DO. [SN]. xref: ICD9CM:377.24 xref: MESH:C562401 xref: MIM:177800 xref: SNOMEDCT_US_2023_03_01:57138009 xref: UMLS_CUI:C0155300 is_a: DOID:1393 ! visual pathway disease [Term] id: DOID:13921 name: bacterial esophagitis subset: DO_infectious_disease_slim subset: NCIthesaurus xref: NCI:C27106 xref: SNOMEDCT_US_2023_03_01:235601001 xref: UMLS_CUI:C0341108 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:11963 ! esophagitis [Term] id: DOID:13922 name: eosinophilic esophagitis def: "An esophagitis characterized by inflammation involving eosinophils located_in esophagus." [url:http\://en.wikipedia.org/wiki/Eosinophilic_esophagitis] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: EFO:0004232 xref: ICD10CM:K20.0 xref: ICD9CM:530.13 xref: MESH:D057765 xref: MIM:610247 xref: MIM:613412 xref: NCI:C27105 xref: ORDO:73247 xref: SNOMEDCT_US_2023_03_01:235599003 xref: UMLS_CUI:C0341106 is_a: DOID:11963 ! esophagitis [Term] id: DOID:13923 name: obsolete acute psychogenic paranoid psychosis synonym: "acute paranoid reaction" EXACT [] is_obsolete: true [Term] id: DOID:13924 name: necrotizing ulcerative gingivitis alt_id: DOID:2274 subset: DO_rare_slim subset: NCIthesaurus synonym: "acute necrotising ulcerative gingivitis" EXACT [] synonym: "acute necrotising ulcerative gingivostomatitis" EXACT [] synonym: "acute necrotizing ulcerative gingivitis" EXACT [] synonym: "acute necrotizing ulcerative gingivostomatitis" EXACT [] synonym: "acute ulceromembranous gingivitis" EXACT [] synonym: "Angina - Vincents" EXACT [] synonym: "ANUG" EXACT OMO:0003012 [] synonym: "early acute necrotising gingivitis" EXACT [] synonym: "trench mouth" EXACT [] synonym: "Vincent angina" EXACT [] synonym: "Vincent's angina" EXACT [] synonym: "Vincent's angina - pharyngitis" EXACT [] synonym: "Vincent's disease" EXACT [] synonym: "Vincent's infection, any site" EXACT [] xref: GARD:5736 xref: ICD10CM:A69.1 xref: ICD9CM:101 xref: MESH:D005892 xref: NCI:C34637 xref: SNOMEDCT_US_2023_03_01:171847006 xref: SNOMEDCT_US_2023_03_01:707792000 xref: UMLS_CUI:C0017575 xref: UMLS_CUI:C1527368 is_a: DOID:3087 ! gingivitis [Term] id: DOID:13929 name: lacrimal duct obstruction subset: NCIthesaurus synonym: "Blocked lacrimal canaliculus" EXACT [] synonym: "Obstruction of lacrimal canaliculus" EXACT [] synonym: "Obstruction of lacrimal ducts" EXACT [] xref: MESH:D007767 xref: NCI:C34757 xref: SNOMEDCT_US_2023_03_01:95769009 xref: UMLS_CUI:C0022906 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:1393 name: visual pathway disease def: "An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35342] subset: NCIthesaurus xref: ICD10CM:H47.9 xref: NCI:C35342 xref: SNOMEDCT_US_2023_03_01:54767005 xref: UMLS_CUI:C0155287 is_a: DOID:5614 ! eye disease [Term] id: DOID:13934 name: facial paralysis subset: NCIthesaurus synonym: "Facial Palsy" EXACT [] xref: ICD10CM:G51.0 xref: MESH:D005158 xref: NCI:C26769 xref: SNOMEDCT_US_2023_03_01:90039006 xref: UMLS_CUI:C0015469 is_a: DOID:1756 ! facial nerve disease [Term] id: DOID:13938 name: amenorrhea def: "A female reproductive system disease that is characterized by the absence of menstruation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23939500] subset: NCIthesaurus synonym: "absence of menstruation" EXACT [] synonym: "amenia" EXACT [] xref: ICD10CM:N91.2 xref: ICD9CM:626.0 xref: MESH:D000568 xref: NCI:C61443 xref: SNOMEDCT_US_2023_03_01:156034000 xref: UMLS_CUI:C0002453 is_a: DOID:229 ! female reproductive system disease property_value: exactMatch "MESH:D000568" xsd:string [Term] id: DOID:1394 name: urinary schistosomiasis def: "A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer." [url:http\://en.wikipedia.org/wiki/Schistosoma_haematobium, url:http\://www.dpd.cdc.gov/dpdx/HTML/Schistosomiasis.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "bladder Schistosomiasis" EXACT [] synonym: "cystitis with bilharziasis" EXACT [] synonym: "Schistosoma haematobium" EXACT [] synonym: "Schistosoma haematobium infection" RELATED [] synonym: "Schistosoma Hematobium Infection" EXACT [] synonym: "Schistosoma hematobium infectious disease" EXACT [] synonym: "Schistosomiasis due to schistosoma haematobium" EXACT [] synonym: "Schistosomiasis of bladder" EXACT [] synonym: "Vesical schistosomiasis" EXACT [] xref: ICD9CM:120.0 xref: MESH:D012553 xref: NCI:C39294 xref: SNOMEDCT_US_2023_03_01:60979006 xref: UMLS_CUI:C0276926 is_a: DOID:1395 ! schistosomiasis is_a: DOID:365 ! bladder disease [Term] id: DOID:13941 name: benign paroxysmal positional vertigo def: "A peripheral vertigo that is characterized by episodic vertigo followed by gait imbalance and oscillopsia with profound bilateral vestibular loss despite normal hearing." [url:https\://pubmed.ncbi.nlm.nih.gov/8290084/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "benign paroxysmal positional nystagmus" EXACT [] synonym: "benign recurrent vertigo" EXACT [] xref: GARD:5915 xref: ICD9CM:386.11 xref: MESH:D065635 xref: MIM:193007 xref: MIM:613106 xref: SNOMEDCT_US_2023_03_01:111541001 xref: UMLS_CUI:C0155502 is_a: DOID:9847 ! peripheral vertigo [Term] id: DOID:13942 name: acute gonococcal salpingitis synonym: "Gonococcal salpingitis, specified as acute" EXACT [] xref: ICD9CM:098.17 xref: SNOMEDCT_US_2023_03_01:45377007 xref: UMLS_CUI:C0275654 is_a: DOID:10973 ! acute salpingitis [Term] id: DOID:13943 name: acute gonococcal prostatitis synonym: "Gonococcal prostatitis" EXACT [] xref: ICD9CM:098.12 xref: SNOMEDCT_US_2023_03_01:111806005 xref: UMLS_CUI:C0153192 is_a: DOID:14654 ! prostatitis [Term] id: DOID:13945 name: CADASIL def: "A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10476042, url:https\://www.ncbi.nlm.nih.gov/pubmed/8878478] subset: DO_rare_slim subset: NCIthesaurus synonym: "cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT [] synonym: "hereditary multi-infarct dementia" EXACT [] xref: GARD:1049 xref: ICD10CM:I67.850 xref: MESH:D046589 xref: MIM:600142 xref: MIM:PS125310 xref: NCI:C84606 xref: ORDO:136 xref: SNOMEDCT_US_2023_03_01:390723008 xref: UMLS_CUI:C0751587 is_a: DOID:10579 ! leukodystrophy [Term] id: DOID:13948 name: bladder neck obstruction subset: NCIthesaurus synonym: "Obstruction of bladder neck or vesicourethral orifice" EXACT [] xref: ICD10CM:N32.0 xref: ICD9CM:596.0 xref: MESH:D001748 xref: NCI:C79541 xref: SNOMEDCT_US_2023_03_01:197859007 xref: UMLS_CUI:C0005694 is_a: DOID:365 ! bladder disease [Term] id: DOID:13949 name: interstitial cystitis subset: DO_rare_slim subset: NCIthesaurus synonym: "ulcerative cystitis" EXACT [] xref: GARD:6787 xref: MESH:D018856 xref: NCI:C27189 xref: SNOMEDCT_US_2023_03_01:197834003 xref: UMLS_CUI:C0282488 is_a: DOID:1679 ! cystitis [Term] id: DOID:1395 name: schistosomiasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001321.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=schistosomiasis] subset: DO_infectious_disease_slim subset: DO_rare_slim xref: GARD:9687 xref: ICD9CM:120.8 xref: SNOMEDCT_US_2023_03_01:187116001 xref: UMLS_CUI:C0029827 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:13951 name: uterine corpus epithelioid leiomyoma def: "An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures." [url:http\://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html#epithelioid] subset: NCIthesaurus xref: NCI:C40164 xref: UMLS_CUI:C1519850 is_a: DOID:13223 ! uterine fibroid [Term] id: DOID:13953 name: uterine corpus dissecting leiomyoma def: "A uterine fibroid that is characterized by the presence of intramural tearing." [url:http\://www.turkjpath.org/text.php3?doi=10.5146/tjpath.2011.01085, url:https\://www.ncbi.nlm.nih.gov/pubmed/23370645] subset: NCIthesaurus xref: NCI:C40172 xref: UMLS_CUI:C1519847 is_a: DOID:13223 ! uterine fibroid [Term] id: DOID:13954 name: obsolete mitotically active variant uterine corpus leiomyoma is_obsolete: true [Term] id: DOID:13955 name: uterus interstitial leiomyoma def: "An uterine fibroid that is located within the myometrium." [url:http\://www.pathologyoutlines.com/topic/uterusleiomyomamyxoid.html] synonym: "Intramural leiomyoma of uterus" EXACT [] xref: ICD10CM:D25.1 xref: ICD9CM:218.1 xref: SNOMEDCT_US_2023_03_01:93616000 xref: UMLS_CUI:C0153994 is_a: DOID:13223 ! uterine fibroid [Term] id: DOID:13956 name: uterine corpus myxoid leiomyoma def: "An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity." [url:http\://www.pathologyoutlines.com/topic/uterusleiomyomamyxoid.html] subset: NCIthesaurus xref: NCI:C40166 xref: UMLS_CUI:C1519860 is_a: DOID:13223 ! uterine fibroid [Term] id: DOID:13957 name: uterine corpus lipoleiomyoma def: "An uterine fibroid that is characterized by the presence of adipocytes." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299967/] subset: NCIthesaurus xref: NCI:C40168 xref: UMLS_CUI:C1519856 is_a: DOID:13223 ! uterine fibroid [Term] id: DOID:13958 name: uterine corpus bizarre leiomyoma def: "An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells." [url:http\://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html] subset: NCIthesaurus synonym: "uterine Corpus Symplastic leiomyoma" EXACT [] xref: NCI:C40167 xref: UMLS_CUI:C1519853 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:127 ! leiomyoma [Term] id: DOID:13962 name: obsolete peripheral focal retinitis and retinochoroiditis synonym: "Focal retinitis and retinochoroiditis, peripheral" EXACT [] synonym: "peripheral focal retinitis AND retinochoroiditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:13963 name: nuclear senile cataract def: "A senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging." [url:https\://en.wikipedia.org/wiki/Cataract] synonym: "Senile nuclear cataract" EXACT [] synonym: "Senile nuclear sclerosis" EXACT [] xref: ICD9CM:366.16 xref: SNOMEDCT_US_2023_03_01:193589009 xref: UMLS_CUI:C0271166 is_a: DOID:9669 ! senile cataract [Term] id: DOID:13964 name: Morgagni cataract def: "A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging." [url:https\://eyewiki.aao.org/Morgagnian_Cataract] synonym: "hypermature cataract" EXACT [] xref: ICD9CM:366.18 xref: SNOMEDCT_US_2023_03_01:247065006 xref: UMLS_CUI:C0152258 is_a: DOID:9669 ! senile cataract [Term] id: DOID:13969 name: obsolete schizo-affective type schizophrenia subchronic state with acute exacerbation is_obsolete: true [Term] id: DOID:1397 name: chronic orbital inflammation synonym: "chronic inflammation of orbit" EXACT [] xref: ICD10CM:H05.1 xref: ICD9CM:376.1 xref: SNOMEDCT_US_2023_03_01:44729001 xref: UMLS_CUI:C0155261 is_a: DOID:930 ! orbital disease [Term] id: DOID:13970 name: obsolete schizo-affective type schizophrenia chronic state is_obsolete: true [Term] id: DOID:13972 name: female breast lower-outer quadrant cancer def: "A female breast cancer that is located_in the lower-outer qudrant of the breast." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/] synonym: "malignant neoplasm of lower-outer quadrant of female breast" EXACT [] xref: ICD10CM:C50.51 xref: ICD9CM:174.5 xref: SNOMEDCT_US_2023_03_01:188155002 xref: UMLS_CUI:C0153553 is_a: DOID:0050671 ! female breast cancer [Term] id: DOID:13975 name: obsolete metastatic tumor to the brain stem synonym: "metastatic tumor to the Brainstem" EXACT [] is_obsolete: true [Term] id: DOID:13976 name: peptic esophagitis synonym: "Peptic reflux disease" EXACT [] synonym: "reflux esophagitis" EXACT [] synonym: "Reflux oesophagitis" EXACT [] xref: ICD9CM:530.11 xref: MESH:D004942 xref: SNOMEDCT_US_2023_03_01:57643001 xref: UMLS_CUI:C0014869 is_a: DOID:11963 ! esophagitis [Term] id: DOID:13979 name: obsolete primary pulmonary coccidioidomycosis alt_id: DOID:13978 def: "A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules." [url:http\://emedicine.medscape.com/article/297976-overview] synonym: "chronic pulmonary coccidioidomycosis" EXACT [] synonym: "desert fever" EXACT [] is_obsolete: true [Term] id: DOID:1398 name: parasitic infectious disease alt_id: DOID:11681 alt_id: DOID:13509 alt_id: DOID:1396 alt_id: DOID:1494 alt_id: DOID:2114 alt_id: DOID:2293 alt_id: DOID:2922 alt_id: DOID:3564 alt_id: DOID:4191 alt_id: DOID:886 alt_id: DOID:948 alt_id: DOID:9639 alt_id: DOID:9644 def: "A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host." [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4071] subset: DO_AGR_slim subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Ectoparasitic disease" EXACT [] synonym: "parasitemia" EXACT [] xref: ICD10CM:H44.12 xref: ICD9CM:360.13 xref: NCI:C34587 xref: SNOMEDCT_US_2023_03_01:57100005 xref: UMLS_CUI:C0014238 is_a: DOID:0050117 ! disease by infectious agent [Term] id: DOID:13980 name: obsolete coccidioidal meningitis def: "A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus." [url:http\://emedicine.medscape.com/article/297976-overview] is_obsolete: true [Term] id: DOID:1399 name: primary lacrimal atrophy xref: ICD9CM:375.13 xref: SNOMEDCT_US_2023_03_01:193978007 xref: UMLS_CUI:C0155229 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:13994 name: cleidocranial dysplasia def: "An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull." [url:http\://en.wikipedia.org/wiki/Cleidocranial_dysostosis, url:http\://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia, url:http\://www.healthline.com/galecontent/cleidocranial-dysplasia-1, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001589.htm, url:https\://www.faces-cranio.org/cleidocranial] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "cleidocranial dysostosis" EXACT [] synonym: "Marie-Sainton Disease" EXACT [] xref: GARD:6118 xref: ICD10CM:Q74.0 xref: MESH:D002973 xref: MIM:119600 xref: MIM:216330 xref: NCI:C75020 xref: ORDO:1452 xref: SNOMEDCT_US_2023_03_01:65976001 xref: UMLS_CUI:C0008928 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:13995 name: obsolete secondary malignant neoplasm to the small Intestine is_obsolete: true [Term] id: DOID:13996 name: small intestine lymphoma subset: NCIthesaurus synonym: "small intestinal Lymphoma" EXACT [] xref: NCI:C4007 xref: SNOMEDCT_US_2023_03_01:449074003 xref: UMLS_CUI:C0278805 is_a: DOID:0060058 ! lymphoma is_a: DOID:10154 ! small intestine cancer [Term] id: DOID:13999 name: contact blepharoconjunctivitis xref: ICD10CM:H10.53 xref: ICD9CM:372.22 xref: SNOMEDCT_US_2023_03_01:193872007 xref: UMLS_CUI:C0155150 is_a: DOID:2456 ! blepharoconjunctivitis [Term] id: DOID:1400 name: lacrimal apparatus disease def: "An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26809] subset: NCIthesaurus xref: ICD10CM:H04 xref: ICD9CM:375 xref: MESH:D007766 xref: NCI:C26809 xref: SNOMEDCT_US_2023_03_01:267740009 xref: UMLS_CUI:C0022904 is_a: DOID:5614 ! eye disease [Term] id: DOID:14000 name: rubeosis iridis xref: ICD10CM:H21.1 xref: ICD9CM:364.42 xref: SNOMEDCT_US_2023_03_01:51995000 xref: UMLS_CUI:C0154916 is_a: DOID:5679 ! retinal disease [Term] id: DOID:14001 name: obsolete diabetes mellitus insulin dependent type, uncontrolled, with peripheral circulatory disorder synonym: "Diabetes mellitus juvenile type, uncontrolled, with peripheral circulatory disorder" EXACT [] synonym: "Diabetes mellitus type I [juvenile type], uncontrolled, with peripheral circulatory disorder" EXACT [] is_obsolete: true [Term] id: DOID:14004 name: thoracic aortic aneurysm def: "An aortic aneurysm that is located_in the thoracic aorta." [url:http\://en.wikipedia.org/wiki/Aortic_aneurysm, url:http\://en.wikipedia.org/wiki/Thoracic_aortic_aneurysm] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: EFO:0004282 xref: MESH:D017545 xref: MIM:132900 xref: MIM:607086 xref: MIM:607087 xref: MIM:611788 xref: MIM:613780 xref: MIM:615436 xref: NCI:C27001 xref: ORDO:91387 xref: SNOMEDCT_US_2023_03_01:155421001 xref: UMLS_CUI:C0162872 is_a: DOID:3627 ! aortic aneurysm [Term] id: DOID:14006 name: splenic artery aneurysm xref: ICD9CM:442.83 xref: SNOMEDCT_US_2023_03_01:70405009 xref: UMLS_CUI:C0155747 is_a: DOID:0050828 ! artery disease [Term] id: DOID:14018 name: alcoholic liver cirrhosis subset: NCIthesaurus synonym: "Alcoholic Cirrhosis" EXACT [] synonym: "Alcoholic cirrhosis of liver" EXACT [] synonym: "Laennec's cirrhosis" EXACT [] synonym: "Laennec's cirrhosis, alcoholic" EXACT [] synonym: "Portal cirrhosis" EXACT [] xref: ICD10CM:K70.3 xref: ICD9CM:571.2 xref: MESH:D008104 xref: NCI:C34782 xref: SNOMEDCT_US_2023_03_01:420054005 xref: UMLS_CUI:C0023891 is_a: DOID:5082 ! liver cirrhosis [Term] id: DOID:14019 name: Brucella canis brucellosis def: "A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly." [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/1172954] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease xref: ICD10CM:A23.3 xref: ICD9CM:023.3 xref: SNOMEDCT_US_2023_03_01:428174001 xref: UMLS_CUI:C0494040 is_a: DOID:11077 ! brucellosis [Term] id: DOID:1402 name: obsolete agalactia alt_id: DOID:1401 synonym: "Failure of lactation - delivered" EXACT [] synonym: "Failure of lactation - delivered (disorder)" EXACT [] synonym: "Failure of lactation, with delivery, with or without mention of antepartum condition" EXACT [] is_obsolete: true [Term] id: DOID:14021 name: Tietze's syndrome def: "A cartilage disease that is characterized by localized tenderness and non-suppurative swelling, typically associated with the 2nd or 3rd costal cartilages unilaterally caused by inflammation of one or more of the costal cartilages and that has symptom anterior chest pain." [url:https\://en.wikipedia.org/wiki/Tietze_syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK564363/, url:https\://www.ucsfhealth.org/medical-tests/slipping-rib-syndrome] synonym: "Costalchondritis" EXACT [] synonym: "Costochondral junction syndrome" EXACT [] synonym: "Costochondritis" EXACT [] synonym: "Slipping rib syndrome" EXACT [] synonym: "Tietze syndrome" RELATED [] synonym: "Tietze's disease" EXACT [] xref: ICD10CM:M94.0 xref: ICD9CM:733.6 xref: MESH:D013991 xref: SNOMEDCT_US_2023_03_01:156848001 xref: UMLS_CUI:C0040213 is_a: DOID:1222 ! cartilage disease [Term] id: DOID:14022 name: algoneurodystrophy xref: ICD10CM:M89.0 xref: ICD9CM:733.7 xref: SNOMEDCT_US_2023_03_01:203490000 xref: UMLS_CUI:C0205930 is_a: DOID:3223 ! complex regional pain syndrome [Term] id: DOID:14026 name: folic acid deficiency anemia def: "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis_in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines." [url:https\://medlineplus.gov/ency/article/000551.htm] synonym: "Folate deficiency anaemia" EXACT [] synonym: "Folate deficiency anemia" EXACT [] synonym: "Folate-deficiency anaemia" EXACT [] synonym: "Folate-deficiency anemia" EXACT [] synonym: "Folate-deficient megaloblastic anaemia" EXACT [] synonym: "folic acid deficiency anaemia" EXACT [] xref: ICD10CM:D52 xref: ICD9CM:281.2 xref: SNOMEDCT_US_2023_03_01:85649008 xref: UMLS_CUI:C0151482 is_a: DOID:2355 ! anemia is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:14032 name: malignant parietal pleura tumor synonym: "primary malignant neoplasm of parietal pleura" EXACT [] xref: SNOMEDCT_US_2023_03_01:93948004 xref: UMLS_CUI:C0153495 is_a: DOID:5158 ! pleural cancer [Term] id: DOID:14033 name: malignant visceral pleura tumor synonym: "primary malignant neoplasm of visceral pleura" EXACT [] xref: SNOMEDCT_US_2023_03_01:94140004 xref: UMLS_CUI:C0153496 is_a: DOID:5158 ! pleural cancer [Term] id: DOID:14037 name: aorta atresia def: "An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25956755] synonym: "Atresia and stenosis of aorta" EXACT [] synonym: "Congenital atresia and stenosis of aorta" EXACT [] xref: ICD9CM:747.22 xref: SNOMEDCT_US_2023_03_01:204431007 xref: UMLS_CUI:C0345010 is_a: DOID:520 ! aortic disease [Term] id: DOID:14038 name: obsolete precocious puberty synonym: "(Sexual precocity NOS) or (puberty - precocious)" EXACT [] synonym: "Precocious puberty" EXACT [] synonym: "precocious puberty" EXACT [] synonym: "Precocious puberty (disorder)" EXACT [] synonym: "Precocious sexual development (disorder)" EXACT [] synonym: "Precocious true puberty" EXACT [] synonym: "Premature puberty" EXACT [] synonym: "Sexual precocity NOS" EXACT [] is_obsolete: true [Term] id: DOID:14039 name: POEMS syndrome def: "A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation." [url:https\://rarediseases.info.nih.gov/diseases/7411/poems-syndrome] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7411 xref: MESH:D016878 xref: NCI:C80303 xref: SNOMEDCT_US_2023_03_01:79268002 xref: UMLS_CUI:C0085404 is_a: DOID:620 ! blood protein disease [Term] id: DOID:1404 name: residual stage angle-closure glaucoma synonym: "Residual stage of angle-closure glaucoma" EXACT [] xref: ICD10CM:H40.24 xref: ICD9CM:365.24 xref: SNOMEDCT_US_2023_03_01:55129006 xref: UMLS_CUI:C0154948 is_a: DOID:1405 ! primary angle-closure glaucoma [Term] id: DOID:14040 name: autoimmune polyendocrine syndrome def: "An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs." [url:https\://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome] {comment="sn:IEDB"} subset: NCIthesaurus synonym: "autoimmune polyendocrinopathy" EXACT [] synonym: "Autoimmune polyglandular failure" EXACT [] synonym: "Lloyd's syndrome" EXACT [] xref: ICD10CM:E31.0 xref: MESH:D016884 xref: NCI:C84576 xref: SNOMEDCT_US_2023_03_01:41864002 xref: UMLS_CUI:C0085409 is_a: DOID:0060005 ! autoimmune disease of endocrine system [Term] id: DOID:14041 name: obsolete endocrine tuberculosis subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:14042 name: bipolar I disorder def: "A bipolar disorder that is characterized by at least one manic or mixed episode." [url:http\://en.wikipedia.org/wiki/Bipolar_I] xref: ICD9CM:296.50 xref: SNOMEDCT_US_2023_03_01:49468007 xref: UMLS_CUI:C0236773 is_a: DOID:3312 ! bipolar disorder [Term] id: DOID:14043 name: neonatal myasthenia gravis xref: ICD9CM:775.2 xref: MESH:D020941 xref: SNOMEDCT_US_2023_03_01:82178003 xref: UMLS_CUI:C0158982 is_a: DOID:437 ! myasthenia gravis [Term] id: DOID:14044 name: obsolete rheumatic pericarditis subset: gram-positive_bacterial_infectious_disease synonym: "acute Rheumatic fever with pericarditis" EXACT [] synonym: "acute Rheumatic Pericarditis" EXACT [] synonym: "acute rheumatic pericarditis" EXACT [] synonym: "acute rheumatic pericarditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14045 name: obsolete syndrome of infant of a diabetic mother synonym: "Infant of a diabetic mother syndrome" EXACT [] synonym: "syndrome of infant of diabetic mother (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14049 name: phaeohyphomycosis def: "A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals." [url:http\://www.thelancet.com/journals/laninf/article/PIIS1473-3099%2809%2970131-8/abstract, url:https\://drfungus.org/knowledge-base/phaeohyphomycosis/, url:https\://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses#phaeohyphomycosis] subset: DO_infectious_disease_slim subset: DO_rare_slim synonym: "Infection by dematiacious fungi" EXACT [] synonym: "phaehyphomycosis" EXACT [] xref: GARD:12803 xref: MESH:D060446 is_a: DOID:0050292 ! primary systemic mycosis [Term] id: DOID:1405 name: primary angle-closure glaucoma def: "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component." [url:https\://en.wikipedia.org/wiki/Glaucoma, url:https\://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma] synonym: "primary Angle Closure Glaucoma" EXACT [] xref: ICD10CM:H40.2 xref: ICD9CM:365.2 xref: SNOMEDCT_US_2023_03_01:193544008 xref: UMLS_CUI:C0017606 is_a: DOID:13550 ! angle-closure glaucoma [Term] id: DOID:14056 name: obsolete rheumatic endocarditis alt_id: DOID:14057 subset: gram-positive_bacterial_infectious_disease synonym: "acute Rheumatic Endocarditis" EXACT [] synonym: "acute rheumatic endocarditis" EXACT [] synonym: "acute rheumatic endocarditis (disorder)" EXACT [] synonym: "Endocarditis-RH chronic" EXACT [] synonym: "Rheumatic disease of endocardium, valve unspecified" EXACT [] synonym: "rheumatic endocarditis" EXACT [] synonym: "Rheumatic endocarditis (disorder)" EXACT [] synonym: "Rheumatic endocarditis NOS" EXACT [] synonym: "Rheumatic endocarditis NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14059 name: paraurethral gland cancer def: "A female reproductive organ cancer that is located_in the paraurethral glands." [url:https\://www.ncbi.nlm.nih.gov/pubmed/5874817] synonym: "malignant tumor of paraurethral gland" EXACT [] synonym: "malignant tumor of the Paraurethral gland" EXACT [] xref: ICD10CM:C68.1 xref: ICD9CM:189.4 xref: SNOMEDCT_US_2023_03_01:93944002 xref: UMLS_CUI:C0153621 is_a: DOID:120 ! female reproductive organ cancer [Term] id: DOID:1406 name: iritis subset: NCIthesaurus xref: MESH:D007500 xref: NCI:C50621 xref: SNOMEDCT_US_2023_03_01:65074000 xref: UMLS_CUI:C0022081 is_a: DOID:240 ! iris disease [Term] id: DOID:14063 name: obsolete acute glomerulonephritis with lesion of rapidly progressive glomerulonephritis is_obsolete: true [Term] id: DOID:14064 name: acute poststreptococcal glomerulonephritis subset: NCIthesaurus synonym: "Post-Streptococcal Glomerulonephritis" EXACT [] xref: NCI:C35443 xref: SNOMEDCT_US_2023_03_01:68544003 xref: UMLS_CUI:C0403414 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:14066 name: acute diffuse nephritis subset: NCIthesaurus synonym: "acute Diffuse Glomerulonephritis" EXACT [] xref: NCI:C35587 xref: SNOMEDCT_US_2023_03_01:197585004 xref: UMLS_CUI:C0341689 is_a: DOID:4781 ! diffuse glomerulonephritis [Term] id: DOID:14067 name: Plasmodium falciparum malaria def: "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=falciparum+malaria] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "falciparum malaria" EXACT [] synonym: "Malaria fever, subtertian" EXACT [] synonym: "malignant tertian fever" EXACT [] xref: ICD10CM:B50 xref: ICD9CM:084.0 xref: MESH:D016778 xref: NCI:C34798 xref: SNOMEDCT_US_2023_03_01:62676009 xref: UMLS_CUI:C0024535 is_a: DOID:12365 ! malaria [Term] id: DOID:14068 name: blackwater fever def: "A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax." [url:http\://en.wikipedia.org/wiki/Blackwater_fever, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=blackwater%20fever] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Black water fever" EXACT [] synonym: "Hemoglobinuric, malaria" EXACT [] synonym: "Malarial Hemoglobinuria" EXACT [] xref: ICD9CM:084.8 xref: MESH:D001742 xref: NCI:C34426 xref: SNOMEDCT_US_2023_03_01:56625005 xref: UMLS_CUI:C0005681 is_a: DOID:12365 ! malaria [Term] id: DOID:14069 name: cerebral malaria def: "A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species." [url:http\://en.wikipedia.org/wiki/Malaria] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Malarial encephalitis" EXACT [] xref: ICD10CM:B50.0 xref: MESH:D016779 xref: NCI:C128373 xref: SNOMEDCT_US_2023_03_01:53622003 xref: UMLS_CUI:C0024534 is_a: DOID:12365 ! malaria [Term] id: DOID:1407 name: anterior uveitis subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10941 xref: MESH:D014606 xref: NCI:C35109 xref: SNOMEDCT_US_2023_03_01:193500005 xref: UMLS_CUI:C0042165 is_a: DOID:12030 ! panuveitis [Term] id: DOID:14070 name: vestibular nystagmus synonym: "Nystagmus associated with disorder of the vestibular system" EXACT [] xref: ICD9CM:379.54 xref: SNOMEDCT_US_2023_03_01:46888001 xref: UMLS_CUI:C0155379 is_a: DOID:1242 ! globe disease [Term] id: DOID:14072 name: obsolete neoplastic pregnancy complications is_obsolete: true [Term] id: DOID:14075 name: geniculate ganglionitis xref: ICD10CM:G51.1 xref: ICD9CM:351.1 xref: MESH:D005155 xref: SNOMEDCT_US_2023_03_01:155071009 xref: UMLS_CUI:C0017407 is_a: DOID:1756 ! facial nerve disease [Term] id: DOID:14080 name: glucocorticoid-remediable aldosteronism def: "A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3." [url:https\://pubmed.ncbi.nlm.nih.gov/10852446/, url:https\://pubmed.ncbi.nlm.nih.gov/1731223/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "familial hyperaldosteronism type I" EXACT [] synonym: "glucocorticoid-suppressible hyperaldosteronism" EXACT [] synonym: "GRA" EXACT OMO:0003012 [] synonym: "GRS" EXACT OMO:0003012 [] xref: GARD:2790 xref: ICD10CM:E26.02 xref: ICD9CM:255.11 xref: MESH:C563177 xref: MIM:103900 xref: NCI:C127161 xref: SNOMEDCT_US_2023_03_01:703232003 xref: UMLS_CUI:C3838731 is_a: DOID:446 ! primary hyperaldosteronism [Term] id: DOID:14081 name: toxic labyrinthitis def: "A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic." [url:http\://books.google.com/books?id=FB0Asxq2KSQC&pg=PA120&lpg#v=onepage&q=&f=false, url:https\://www.ncbi.nlm.nih.gov/pubmed/16448876] xref: ICD9CM:386.34 xref: SNOMEDCT_US_2023_03_01:3344003 xref: UMLS_CUI:C0155507 is_a: DOID:1468 ! labyrinthitis [Term] id: DOID:14087 name: epicondylitis alt_id: DOID:14162 def: "A bone inflammation disease that results_in inflammation located_in epicondyle." [url:http\://en.wikipedia.org/wiki/Epicondylitis] subset: NCIthesaurus synonym: "andrel epicondylitis" EXACT [] synonym: "archer's elbow" EXACT [] synonym: "golfer's elbow" EXACT [] synonym: "hockey elbow" EXACT [] synonym: "Lateral epicondylitis" EXACT [] synonym: "medial epicondylitis" EXACT [] synonym: "shooter's elbow" RELATED [] synonym: "tennis elbow" RELATED [] xref: ICD10CM:M77.1 xref: ICD9CM:726.32 xref: MESH:D013716 xref: NCI:C34589 xref: NCI:C35067 xref: SNOMEDCT_US_2023_03_01:156659008 xref: SNOMEDCT_US_2023_03_01:268088003 xref: UMLS_CUI:C0014488 xref: UMLS_CUI:C0039516 is_a: DOID:3342 ! bone inflammation disease [Term] id: DOID:14089 name: root caries synonym: "Cementum caries" EXACT [] synonym: "Dental caries of root surface" EXACT [] xref: ICD9CM:521.08 xref: MESH:D017213 xref: SNOMEDCT_US_2023_03_01:30512007 xref: UMLS_CUI:C0162644 is_a: DOID:216 ! dental caries [Term] id: DOID:14090 name: obsolete heartwater disease subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease synonym: "Heartwater (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14092 name: renal artery atheroma synonym: "Atherosclerosis of renal artery" EXACT [] synonym: "renal atherosclerosis" EXACT [] xref: ICD10CM:I70.1 xref: ICD9CM:440.1 xref: SNOMEDCT_US_2023_03_01:45281005 xref: UMLS_CUI:C0155734 is_a: DOID:1936 ! atherosclerosis is_a: DOID:2388 ! renal artery disease [Term] id: DOID:14095 name: boutonneuse fever alt_id: DOID:0050039 alt_id: DOID:0050040 alt_id: DOID:0050044 alt_id: DOID:0050045 def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." [url:http\://en.wikipedia.org/wiki/Boutonneuse_fever, url:http\://www.cdc.gov/otherspottedfever/index.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "African tick typhus" EXACT [] synonym: "Boutonneuse disease" RELATED [] synonym: "Conor and Bruch's disease" RELATED [] synonym: "Kenya fever" RELATED [] synonym: "kenya tick typhus" EXACT [] synonym: "Kenyan tick typhus" RELATED [] synonym: "marseilles fever" EXACT [] synonym: "Mediterranean spotted fever" RELATED [] synonym: "Mediterranean tick fever" RELATED [] synonym: "Rickettsia conorii spotted fever" EXACT [] synonym: "South African tick-bite fever" EXACT [] xref: ICD10CM:A77.1 xref: ICD9CM:082.1 xref: MESH:D001907 xref: SNOMEDCT_US_2023_03_01:186779000 xref: UMLS_CUI:C0006060 is_a: DOID:11104 ! spotted fever [Term] id: DOID:14096 name: infertility due to extratesticular cause synonym: "Infertility due to extratesticular causes" EXACT [] xref: ICD9CM:606.8 xref: SNOMEDCT_US_2023_03_01:198011008 xref: UMLS_CUI:C0021360 is_a: DOID:12336 ! male infertility [Term] id: DOID:14099 name: acquired gastric outlet stenosis synonym: "acquired hypertrophic pyloric stenosis" EXACT [] synonym: "adult hypertrophic pyloric stenosis" EXACT [] xref: ICD9CM:537.0 xref: SNOMEDCT_US_2023_03_01:13483000 xref: UMLS_CUI:C0700588 is_a: DOID:12639 ! pyloric stenosis [Term] id: DOID:14107 name: De Quervain disease synonym: "Radial styloid tenosynovitis" EXACT [] synonym: "Tenosynovitis, de Quervain's" EXACT [] xref: ICD10CM:M65.4 xref: ICD9CM:727.04 xref: MESH:D053684 xref: SNOMEDCT_US_2023_03_01:202905002 xref: UMLS_CUI:C0149870 is_a: DOID:381 ! arthropathy [Term] id: DOID:14108 name: obsolete syphilitic peritonitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease is_obsolete: true [Term] id: DOID:14110 name: anus cancer alt_id: DOID:12240 def: "A large intestine cancer that is located_in the anus." [url:http\://en.wikipedia.org/wiki/Anus] subset: DO_rare_slim subset: NCIthesaurus synonym: "anal cancer" EXACT [] synonym: "malignant anal tumor" EXACT [] xref: GARD:9300 xref: ICD10CM:C21.0 xref: ICD10CM:C21.1 xref: ICD9CM:154.2 xref: ICD9CM:154.3 xref: NCI:C7379 xref: SNOMEDCT_US_2023_03_01:93669004 xref: SNOMEDCT_US_2023_03_01:93676009 xref: UMLS_CUI:C0153445 xref: UMLS_CUI:C0153446 is_a: DOID:3128 ! anus disease is_a: DOID:5672 ! large intestine cancer [Term] id: DOID:14111 name: median rhomboid glossitis synonym: "Persistent tuberculum impar" EXACT [] xref: ICD10CM:K14.2 xref: ICD9CM:529.2 xref: SNOMEDCT_US_2023_03_01:7522008 xref: UMLS_CUI:C0155963 is_a: DOID:1456 ! glossitis [Term] id: DOID:14114 name: obsolete congenital adhesion of tongue synonym: "adhesions,tongue-congenital" EXACT [] synonym: "Congenital adhesions of tongue" EXACT [] synonym: "Congenital adhesions of tongue (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14115 name: toxic shock syndrome def: "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities." [url:http\://en.wikipedia.org/wiki/Toxic_shock_syndrome] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "toxic shock" EXACT [] synonym: "TSS" EXACT OMO:0003012 [] xref: ICD10CM:A48.3 xref: ICD9CM:040.82 xref: MESH:D012772 xref: NCI:C35498 xref: SNOMEDCT_US_2023_03_01:18504008 xref: UMLS_CUI:C0600327 is_a: DOID:0050339 ! commensal bacterial infectious disease [Term] id: DOID:14116 name: multiple symmetric lipomatosis alt_id: DOID:3137 comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "cervical Symmetrical Lipomatosis" EXACT [] synonym: "Launois-Bensaude's lipomatosis" EXACT [] synonym: "LIPODYSTROPHY, CEPHALOTHORACIC" EXACT [] synonym: "LIPOMATOSIS, FAMILIAL BENIGN CERVICAL" EXACT [] synonym: "Madelung's neck" EXACT [] synonym: "multiple symmetrical lipomatosis" EXACT [] xref: GARD:6957 xref: MESH:D008069 xref: MIM:151800 xref: NCI:C4392 xref: SNOMEDCT_US_2023_03_01:238902007 xref: SNOMEDCT_US_2023_03_01:65245004 xref: UMLS_CUI:C0023804 xref: UMLS_CUI:C0028253 is_a: DOID:3153 ! lipomatosis [Term] id: DOID:14117 name: obsolete group A hyperlipidemia synonym: "hyperlipidemia, group A (disorder)" EXACT [] synonym: "LDL hyperlipoproteinemia" EXACT [] synonym: "Pure hypercholesterolaemia" EXACT [] synonym: "Pure hypercholesterolemia" EXACT [] synonym: "Pure hypercholesterolemia (disorder)" EXACT [] synonym: "Pure hypercholesterolemia NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14118 name: familial lipoprotein lipase deficiency def: "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides." [url:https\://pubmed.ncbi.nlm.nih.gov/35415234/, url:https\://rarediseases.org/rare-diseases/familial-lipoprotein-lipase-deficiency/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "familial hyperlipoproteinemia type I" EXACT [] synonym: "familial LPL deficiency" EXACT [] synonym: "Fredrickson type I hyperlipoproteinemia" EXACT [] synonym: "Fredrickson type I lipaemia" EXACT [] synonym: "hypercholesterinaemic xanthomatosis" EXACT [] synonym: "hyperchylomicronemia" EXACT [] synonym: "mixed hyperglyceridemia" EXACT [] xref: GARD:12241 xref: ICD10CM:E78.3 xref: ICD9CM:272.3 xref: MESH:D008072 xref: MIM:238600 xref: NCI:C84771 xref: ORDO:309015 xref: SNOMEDCT_US_2023_03_01:34171006 xref: UMLS_CUI:C0023817 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111417 ! familial chylomicronemia syndrome [Term] id: DOID:1412 name: bacteriuria def: "A urinary system disease which consists of the presence of bacteria in urine." [url:http\://en.wikipedia.org/wiki/Bacteriuria] xref: ICD10CM:R82.71 xref: MEDDRA:10004056 xref: MESH:D001437 xref: SNOMEDCT_US_2023_03_01:61373006 xref: UMLS_CUI:C0004659 is_a: DOID:18 ! urinary system disease [Term] id: DOID:14121 name: blue toe syndrome xref: MESH:D018438 xref: UMLS_CUI:C0242645 is_a: DOID:1461 ! cholesterol embolism [Term] id: DOID:14125 name: abducens nerve neoplasm subset: NCIthesaurus synonym: "neoplasm of abducens nerve" EXACT [] synonym: "VIth Cranial nerve tumors" EXACT [] xref: NCI:C5826 xref: SNOMEDCT_US_2023_03_01:126972009 xref: UMLS_CUI:C1263898 is_a: DOID:2815 ! cranial nerve malignant neoplasm [Term] id: DOID:14130 name: lateral cystocele def: "A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26337427] xref: ICD10CM:N81.12 xref: ICD9CM:618.02 xref: SNOMEDCT_US_2023_03_01:441891001 xref: UMLS_CUI:C2711750 is_a: DOID:1284 ! prolapse of female genital organ [Term] id: DOID:14131 name: midline cystocele def: "A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the midline anterior vaginal wall." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26337427] xref: ICD10CM:N81.11 xref: ICD9CM:618.01 xref: SNOMEDCT_US_2023_03_01:423633003 xref: UMLS_CUI:C1456248 is_a: DOID:1284 ! prolapse of female genital organ [Term] id: DOID:14133 name: Masters-Allen syndrome def: "A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery." [url:https\://www.ajog.org/article/S0002-9378(05)02620-7/abstract] synonym: "Broad ligament laceration syndrome" EXACT [] xref: ICD9CM:620.6 xref: SNOMEDCT_US_2023_03_01:69186005 xref: UMLS_CUI:C0152079 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:14139 name: anus lymphoma subset: NCIthesaurus synonym: "Lymphoma of anus" EXACT [] xref: NCI:C5601 xref: SNOMEDCT_US_2023_03_01:1153356005 xref: UMLS_CUI:C1332268 is_a: DOID:0060058 ! lymphoma is_a: DOID:14110 ! anus cancer [Term] id: DOID:1414 name: ovarian dysfunction def: "An ovarian disease that is characterized by irregular or absent ovulation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26132932] xref: ICD9CM:256.3 xref: SNOMEDCT_US_2023_03_01:267399006 xref: UMLS_CUI:C0029697 is_a: DOID:1100 ! ovarian disease [Term] id: DOID:14140 name: pulp erosion xref: ICD9CM:521.33 xref: UMLS_CUI:C1456163 is_a: DOID:2498 ! tooth erosion [Term] id: DOID:14145 name: malignant anus melanoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "anal melanoma" EXACT [] synonym: "malignant melanoma of anus" EXACT [] xref: NCI:C4639 xref: SNOMEDCT_US_2023_03_01:276821000 xref: UMLS_CUI:C0349538 is_a: DOID:14110 ! anus cancer is_a: DOID:1909 ! melanoma [Term] id: DOID:14146 name: ureterolithiasis def: "An ureteral disease this is characterized by the formation of stoney concentrations in the ureter." [url:https\://www.jucm.com/ureterolithiasis-leaving-stone-unturned/, url:https\://www.ncbi.nlm.nih.gov/pubmed/28513524] subset: NCIthesaurus synonym: "calculus of ureter" EXACT [] synonym: "Ureteric calculus" EXACT [] synonym: "Ureteric stone" EXACT [] xref: ICD10CM:N20.1 xref: ICD9CM:592.1 xref: MESH:D053039 xref: NCI:C114696 xref: SNOMEDCT_US_2023_03_01:31054009 xref: UMLS_CUI:C0041952 is_a: DOID:1426 ! ureteral disease [Term] id: DOID:1415 name: gyrate atrophy comment: OMIM mapping by NeuroDevNet. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Gyrate atrophy of the choroid and/or retina" EXACT [] synonym: "gyrate atrophy of the retina" EXACT [] synonym: "Ornithinemia with gyrate atrophy" EXACT [] xref: GARD:6556 xref: MESH:D015799 xref: MIM:258870 xref: NCI:C84744 xref: SNOMEDCT_US_2023_03_01:314467007 xref: UMLS_CUI:C0018425 is_a: DOID:1417 ! choroid disease [Term] id: DOID:14150 name: spinal cord lymphoma def: "A spinal cancer that is located_in the spinal cord and derives_from lymphocytes." [url:http\://www.virtualmedicalcentre.com/diseases.asp?did=583] subset: NCIthesaurus synonym: "Lymphoma of the Spinal Cord" EXACT [] synonym: "spinal cord cancer" RELATED [] xref: NCI:C5157 xref: UMLS_CUI:C1336044 is_a: DOID:0060058 ! lymphoma is_a: DOID:5612 ! spinal cancer is_a: DOID:5772 ! central nervous system hematologic cancer [Term] id: DOID:14151 name: spinal cord melanoma subset: NCIthesaurus synonym: "melanoma of the Spinal Cord" EXACT [] xref: NCI:C5158 xref: UMLS_CUI:C1336045 is_a: DOID:1909 ! melanoma is_a: DOID:5612 ! spinal cancer [Term] id: DOID:14152 name: spinal cord sarcoma subset: NCIthesaurus synonym: "sarcoma of the Spinal Cord" EXACT [] xref: NCI:C5152 xref: UMLS_CUI:C1336049 is_a: DOID:1115 ! sarcoma is_a: DOID:5612 ! spinal cancer [Term] id: DOID:14155 name: acute retrobulbar neuritis synonym: "Retrobulbar neuritis" EXACT [] xref: ICD9CM:377.32 xref: SNOMEDCT_US_2023_03_01:51604006 xref: UMLS_CUI:C0155301 is_a: DOID:1210 ! optic neuritis [Term] id: DOID:14157 name: obsolete malnutrition of mild degree is_obsolete: true [Term] id: DOID:14159 name: obstructive hydrocephalus subset: NCIthesaurus xref: ICD10CM:G91.1 xref: ICD9CM:331.4 xref: MESH:D006849 xref: NCI:C116347 xref: SNOMEDCT_US_2023_03_01:230746009 xref: UMLS_CUI:C0549423 is_a: DOID:10908 ! hydrocephalus [Term] id: DOID:14163 name: obsolete metastatic malignant tumor to the anus synonym: "secondary malignant neoplasm of anus (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14165 name: bilateral hyperactive labyrinth synonym: "hyperactive bilateral labyrinthine dysfunction" EXACT [] synonym: "hyperactive labyrinth, bilateral" EXACT [] xref: ICD9CM:386.52 xref: SNOMEDCT_US_2023_03_01:194373002 xref: UMLS_CUI:C0155516 is_a: DOID:566 ! labyrinthine dysfunction [Term] id: DOID:1417 name: choroid disease def: "An uveal disease that is located_in the choroid." [url:https\://www.vagelos.columbia.edu/departments-centers/ophthalmology/education/digital-reference-ophthalmology/vitreous-and-retina/retina-choroid-disorders] subset: NCIthesaurus xref: ICD10CM:H31.9 xref: ICD9CM:363.9 xref: MESH:D015862 xref: NCI:C34468 xref: SNOMEDCT_US_2023_03_01:193480005 xref: UMLS_CUI:C0008521 is_a: DOID:3480 ! uveal disease [Term] id: DOID:14172 name: rheumatic congestive heart failure synonym: "Congestive rheumatic heart failure" EXACT [] synonym: "Rheumatic heart failure" EXACT [] xref: ICD10CM:I09.81 xref: ICD9CM:398.91 xref: SNOMEDCT_US_2023_03_01:82523003 xref: UMLS_CUI:C0155582 is_a: DOID:6000 ! congestive heart failure [Term] id: DOID:14174 name: central neurocytoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Neurolipocytoma" EXACT [] xref: ICDO:9506/1 xref: MESH:D018306 xref: NCI:C3791 xref: SNOMEDCT_US_2023_03_01:302832007 xref: UMLS_CUI:C0206719 is_a: DOID:3541 ! cerebral ventricle cancer [Term] id: DOID:14175 name: von Hippel-Lindau disease comment: OMIM mapping confirmed by DO. [LS]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Hippel Lindau syndrome" EXACT [] synonym: "von Hippel-Lindau syndrome" EXACT [] xref: GARD:7855 xref: ICD10CM:Q85.83 xref: MESH:D006623 xref: MIM:193300 xref: NCI:C3105 xref: SNOMEDCT_US_2023_03_01:46659004 xref: UMLS_CUI:C0019562 is_a: DOID:5241 ! hemangioblastoma [Term] id: DOID:14176 name: selective IgG deficiency disease def: "A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26846287] subset: DO_rare_slim subset: NCIthesaurus synonym: "Immunoglobin G subclass deficiency" EXACT [] synonym: "Selective deficiency of IgG" EXACT [] synonym: "Selective IgG Immunodeficiency" EXACT [] synonym: "Selective immunoglobulin G deficiency" EXACT [] synonym: "Selective Immunoglobulin G Subclass deficiency" EXACT [] xref: GARD:10371 xref: ICD10CM:D80.3 xref: MESH:D017099 xref: NCI:C27142 xref: SNOMEDCT_US_2023_03_01:190981001 xref: UMLS_CUI:C0162539 is_a: DOID:11702 ! dysgammaglobulinemia [Term] id: DOID:14177 name: congenital hypogammaglobulinemia synonym: "Congenital hypogammaglobulinaemia" EXACT [] xref: ICD9CM:279.04 xref: SNOMEDCT_US_2023_03_01:190983003 xref: UMLS_CUI:C1457897 is_a: DOID:0080015 ! physical disorder is_a: DOID:2115 ! B cell deficiency [Term] id: DOID:14178 name: obsolete immunodeficiency with increased IgM is_obsolete: true [Term] id: DOID:14179 name: X-linked agammaglobulinemia def: "An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement." [url:http\://en.wikipedia.org/wiki/X-linked_agammaglobulinemia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001307.htm] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Bruton agammaglobulinemia tyrosine kinase deficiency" EXACT [] synonym: "Bruton disease" EXACT [] synonym: "Bruton's agammaglobulinaemia" EXACT [] synonym: "Bruton's Sex-Linked Agammaglobulinemia" EXACT [] synonym: "Bruton's type agammaglobulinemia" EXACT [] synonym: "Bruton-type agammaglobulinemia" EXACT [] synonym: "BTK deficiency" EXACT [] xref: MESH:C537409 xref: MIM:300755 xref: NCI:C3822 xref: ORDO:47 xref: SNOMEDCT_US_2023_03_01:65880007 xref: UMLS_CUI:C0221026 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:14181 name: calcific tendinitis xref: ICD10CM:M75.3 xref: ICD9CM:726.11 xref: SNOMEDCT_US_2023_03_01:239957000 xref: UMLS_CUI:C0158303 is_a: DOID:971 ! tendinitis [Term] id: DOID:14182 name: obsolete metastatic tumor to the choroid is_obsolete: true [Term] id: DOID:14183 name: alcoholic neuropathy subset: NCIthesaurus synonym: "Alcohol-related polyneuropathy" EXACT [] synonym: "Alcoholic polyneuropathy" EXACT [] xref: ICD10CM:G62.1 xref: ICD9CM:357.5 xref: MESH:D020269 xref: NCI:C26926 xref: SNOMEDCT_US_2023_03_01:7916009 xref: UMLS_CUI:C0085677 is_a: DOID:2537 ! inflammatory and toxic neuropathy property_value: exactMatch "MESH:D020269" xsd:string [Term] id: DOID:14184 name: polyneuropathy due to drug xref: ICD10CM:G62.0 xref: ICD9CM:357.6 xref: SNOMEDCT_US_2023_03_01:7339009 xref: UMLS_CUI:C0154762 is_a: DOID:2537 ! inflammatory and toxic neuropathy [Term] id: DOID:14188 name: frozen shoulder def: "A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion." [url:https\://www.mayoclinic.org/diseases-conditions/frozen-shoulder/symptoms-causes/syc-20372684] synonym: "adhesions-capsulitis,shoulder" EXACT [] synonym: "Adhesive capsulitis of shoulder" EXACT [] xref: ICD10CM:M75.0 xref: ICD9CM:726.0 xref: MESH:D002062 xref: SNOMEDCT_US_2023_03_01:156664007 xref: UMLS_CUI:C0311223 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:1419 name: obsolete residual schizophrenia subchronic state with acute exacerbation is_obsolete: true [Term] id: DOID:14190 name: obsolete shared paranoid disease synonym: "Induced psychotic disorder" EXACT [] synonym: "Shared paranoid disorder" EXACT [] synonym: "Shared psychotic disorder" EXACT [] is_obsolete: true [Term] id: DOID:14191 name: obsolete simple paranoid state synonym: "Paranoid state, simple" EXACT [] is_obsolete: true [Term] id: DOID:14192 name: bicipital tenosynovitis xref: ICD9CM:726.12 xref: SNOMEDCT_US_2023_03_01:202840002 xref: UMLS_CUI:C0158304 is_a: DOID:970 ! tenosynovitis [Term] id: DOID:14199 name: posterior dislocation of lens xref: ICD10CM:H27.13 xref: ICD9CM:379.34 xref: SNOMEDCT_US_2023_03_01:194161005 xref: UMLS_CUI:C0155373 is_a: DOID:1242 ! globe disease [Term] id: DOID:14200 name: obsolete diplopia synonym: "diplopia" EXACT [] synonym: "Diplopia (disorder)" EXACT [] synonym: "Double vision" EXACT [] is_obsolete: true [Term] id: DOID:14202 name: adult dermatomyositis synonym: "adult onset dermatomyositis" EXACT [] is_a: DOID:10223 ! dermatomyositis [Term] id: DOID:14203 name: childhood type dermatomyositis subset: NCIthesaurus synonym: "childhood Dermatomyositis" EXACT [] synonym: "Juvenile dermatomyositis" EXACT [] xref: ICD10CM:M33.0 xref: MESH:D003882 xref: NCI:C27576 xref: SNOMEDCT_US_2023_03_01:1212005 xref: UMLS_CUI:C0263666 is_a: DOID:10223 ! dermatomyositis [Term] id: DOID:14213 name: hypophosphatasia alt_id: DOID:14763 def: "A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12." [url:https\://ghr.nlm.nih.gov/condition/hypophosphatasia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "deficiency of alkaline phosphatase" EXACT [] xref: GARD:6734 xref: ICD10CM:E83.39 xref: MESH:C562440 xref: MESH:D007014 xref: NCI:C26798 xref: ORDO:436 xref: SNOMEDCT_US_2023_03_01:30174008 xref: SNOMEDCT_US_2023_03_01:70848009 xref: UMLS_CUI:C0020630 xref: UMLS_CUI:C0220743 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome [Term] id: DOID:14215 name: obsolete hyperamylasemia is_obsolete: true [Term] id: DOID:14218 name: dihydropyrimidine dehydrogenase deficiency def: "A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine." [url:http\://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency] subset: DO_rare_slim subset: NCIthesaurus synonym: "Dihydrouracil Dehydrogenase deficiency" EXACT [] synonym: "familial pyrimidinaemia" EXACT [] synonym: "thymine-uracilurea" EXACT [] xref: GARD:19 xref: MESH:D054067 xref: MIM:274270 xref: NCI:C84672 xref: SNOMEDCT_US_2023_03_01:238016000 xref: UMLS_CUI:C1959620 xref: UMLS_CUI:C3495551 is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:14219 name: renal tubular acidosis def: "A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine." [url:http\://en.wikipedia.org/wiki/Renal_tubular_acidosis, url:http\://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/renal_tubular_acidosis_rta.html] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7552 xref: ICD10CM:N25.89 xref: MESH:D000141 xref: MIM:179830 xref: MIM:267200 xref: MIM:602722 xref: NCI:C28129 xref: SNOMEDCT_US_2023_03_01:1776003 xref: UMLS_CUI:C0001126 is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:14221 name: abdominal obesity-metabolic syndrome 1 def: "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events." [url:https\://en.wikipedia.org/wiki/Metabolic_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "dysmetabolic syndrome X" EXACT [] synonym: "metabolic syndrome X" EXACT [] xref: EFO:0000195 xref: GARD:9226 xref: ICD10CM:E88.81 xref: ICD9CM:277.7 xref: MESH:D024821 xref: MIM:605552 xref: NCI:C84442 xref: SNOMEDCT_US_2023_03_01:190394009 xref: UMLS_CUI:C0524620 is_a: DOID:0060611 ! abdominal obesity-metabolic syndrome [Term] id: DOID:14223 name: ochronosis def: "A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions." [url:https\://en.wikipedia.org/wiki/Ochronosis, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681189/] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7231 xref: ICD10CM:E70.29 xref: MESH:D009794 xref: NCI:C84938 xref: SNOMEDCT_US_2023_03_01:21924005 xref: UMLS_CUI:C0028817 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:14224 name: tracheal calcification subset: NCIthesaurus synonym: "Calcification of trachea" EXACT [] xref: NCI:C35314 xref: SNOMEDCT_US_2023_03_01:81089005 xref: UMLS_CUI:C0264324 is_a: DOID:3225 ! tracheal disease [Term] id: DOID:14225 name: acute frontal sinusitis def: "A frontal sinusitis which lasts for less than 4 weeks." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html] xref: ICD10CM:J01.1 xref: ICD9CM:461.1 xref: SNOMEDCT_US_2023_03_01:155500003 xref: UMLS_CUI:C0155805 is_a: DOID:10791 ! frontal sinusitis [Term] id: DOID:14227 name: azoospermia def: "A male infertility disease characterized by the absence of any measurable level of sperm in semen." [url:http\://en.wikipedia.org/wiki/Azoospermia, url:http\://ghr.nlm.nih.gov/glossary=azoospermia] comment: Xref MGI. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus xref: EFO:0000279 xref: ICD10CM:N46.0 xref: ICD9CM:606.0 xref: MESH:D053713 xref: NCI:C80076 xref: ORDO:217034 xref: SNOMEDCT_US_2023_03_01:145008007 xref: UMLS_CUI:C0004509 is_a: DOID:12336 ! male infertility property_value: exactMatch "MESH:D053713" xsd:string [Term] id: DOID:14228 name: oligospermia def: "A male fertility issue defined as a low sperm concentration in the ejaculate." [url:https\://en.wikipedia.org/wiki/Oligospermia] subset: NCIthesaurus xref: ICD10CM:N46.1 xref: ICD9CM:606.1 xref: MESH:D009845 xref: NCI:C34860 xref: UMLS_CUI:C0028960 is_a: DOID:12336 ! male infertility [Term] id: DOID:14230 name: scleromalacia perforans def: "A scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. The choroid can become exposed leading to infarction and necrosis of related areas; the sclera can also thin such that the dark uvea protrudes through the front of the eye, forming a staphyloma which has_symptom loss of vision and appearance of a dark bulge. Scleromalacia perforans is usually caused by a rare complication of autoimmune disease like rheumatoid arthritis." [url:https\://eyewiki.aao.org/Scleritis, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987604/] xref: ICD10CM:H15.05 xref: ICD9CM:379.04 xref: SNOMEDCT_US_2023_03_01:26664005 xref: UMLS_CUI:C0155354 is_a: DOID:11343 ! scleral disease [Term] id: DOID:14233 name: orbital cyst xref: ICD10CM:H05.81 xref: ICD9CM:376.81 xref: SNOMEDCT_US_2023_03_01:31021007 xref: UMLS_CUI:C0155285 is_a: DOID:930 ! orbital disease [Term] id: DOID:14239 name: gastrointestinal tularemia alt_id: DOID:0050071 def: "A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting." [url:https\://www.cdc.gov/tularemia/index.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "Enteric tularemia" EXACT [] synonym: "intestinal tularaemia" EXACT [] xref: ICD9CM:021.1 xref: ICD9CM:021.8 xref: SNOMEDCT_US_2023_03_01:186292001 xref: SNOMEDCT_US_2023_03_01:186298002 xref: UMLS_CUI:C0029835 xref: UMLS_CUI:C0152942 is_a: DOID:2123 ! tularemia is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:14243 name: chronic perichondritis of pinna def: "A perichondritis of auricle which is persistent and long-lasting." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001253.htm] synonym: "chronic pinna perichondritis" EXACT [] xref: ICD9CM:380.02 xref: SNOMEDCT_US_2023_03_01:194195009 xref: UMLS_CUI:C0155391 is_a: DOID:222 ! perichondritis of auricle [Term] id: DOID:14244 name: epiphora due to excess lacrimation xref: ICD10CM:H04.21 xref: ICD9CM:375.21 xref: SNOMEDCT_US_2023_03_01:193984005 xref: UMLS_CUI:C0155233 is_a: DOID:13757 ! excessive tearing [Term] id: DOID:14245 name: cystoid macular retinal degeneration synonym: "Cystoid macular degeneration of retina" EXACT [] xref: ICD10CM:H35.35 xref: ICD9CM:362.53 xref: SNOMEDCT_US_2023_03_01:14046000 xref: UMLS_CUI:C0154850 is_a: DOID:2007 ! degeneration of macula and posterior pole [Term] id: DOID:14247 name: chronic purulent otitis media def: "A suppurative otitis media which is persistent and long-lasting." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false] subset: NCIthesaurus synonym: "chronic suppurative otitis media" EXACT [] xref: ICD10CM:H66.3 xref: ICD9CM:382.3 xref: NCI:C128386 xref: SNOMEDCT_US_2023_03_01:38394007 xref: UMLS_CUI:C0271454 is_a: DOID:11506 ! suppurative otitis media [Term] id: DOID:14248 name: chronic atticoantral disease def: "A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection." [url:http\://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA114&lpg#v=onepage&q=&f=false] synonym: "chronic atticoantral suppurative otitis media" EXACT [] xref: ICD10CM:H66.2 xref: ICD9CM:382.2 xref: SNOMEDCT_US_2023_03_01:41954005 xref: UMLS_CUI:C0155441 is_a: DOID:14247 ! chronic purulent otitis media [Term] id: DOID:1425 name: pyoureter subset: NCIthesaurus synonym: "Ureter abscess" EXACT [] xref: NCI:C35666 xref: SNOMEDCT_US_2023_03_01:266627003 xref: UMLS_CUI:C0034223 is_a: DOID:1426 ! ureteral disease [Term] id: DOID:14250 name: Down syndrome def: "A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability." [url:http\://en.wikipedia.org/wiki/Down_syndrome, url:http\://ghr.nlm.nih.gov/condition/down-syndrome, url:http\://www.nichd.nih.gov/health/topics/down/Pages/default.aspx, url:http\://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome, url:https\://research.nhgri.nih.gov/atlas/condition/trisomy-21] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Complete trisomy 21 syndrome" EXACT [] synonym: "Down's syndrome" EXACT [] synonym: "Down's syndrome - trisomy 21" EXACT [] synonym: "Downs syndrome" EXACT [] synonym: "G Trisomy" EXACT [] synonym: "trisomy 21 syndrome" EXACT [] xref: GARD:10247 xref: ICD10CM:Q90 xref: ICD9CM:758.0 xref: MESH:D004314 xref: MIM:190685 xref: NCI:C2993 xref: ORDO:870 xref: SNOMEDCT_US_2023_03_01:41040004 xref: UMLS_CUI:C0013080 is_a: DOID:0060429 ! chromosomal duplication syndrome [Term] id: DOID:14251 name: vitreoretinal dystrophy synonym: "Vitreoretinal dystrophies" EXACT [] xref: ICD10CM:H35.51 xref: ICD9CM:362.73 xref: SNOMEDCT_US_2023_03_01:79556007 xref: UMLS_CUI:C0154863 is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:14252 name: dystrophies primarily involving the retinal pigment epithelium xref: ICD10CM:H35.54 xref: ICD9CM:362.76 xref: UMLS_CUI:C0154865 is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:14253 name: retinal dystrophy in systemic or cerebroretinal lipidoses xref: ICD9CM:362.71 xref: UMLS_CUI:C0154861 is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:14256 name: adult-onset Still's disease def: "A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain." [url:http\://en.wikipedia.org/wiki/Adult-onset_Still%27s_disease, url:http\://www.mayoclinic.com/health/adult-stills-disease/DS00792, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000450.htm, url:http\://www.thedoctorwillseeyounow.com/content/arthritis/art1928.html, url:https\://www.aiarthritis.org/stillsdisease] subset: DO_rare_slim synonym: "adult onset Still's disease" EXACT [] synonym: "adult-onset Still disease" EXACT [] xref: GARD:436 xref: ICD10CM:M06.1 xref: MESH:D016706 xref: SNOMEDCT_US_2023_03_01:239920006 xref: UMLS_CUI:C0085253 is_a: DOID:7148 ! rheumatoid arthritis [Term] id: DOID:14258 name: obsolete leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb synonym: "Leukemic reticuloendotheliosis involving lymph nodes of inguinal region and lower limb" EXACT [] synonym: "Leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb (disorder)" EXACT [] synonym: "Leukemic reticuloendotheliosis of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1426 name: ureteral disease def: "A urinary system disease that is located_in the ureter." [url:http\://www.nlm.nih.gov/medlineplus/ureteraldisorders.html] subset: NCIthesaurus xref: MESH:D014515 xref: NCI:C27148 xref: SNOMEDCT_US_2023_03_01:128073008 xref: UMLS_CUI:C0403608 is_a: DOID:18 ! urinary system disease [Term] id: DOID:14261 name: fragile X syndrome def: "A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function." [url:http\://en.wikipedia.org/wiki/Fragile_X_syndrome, url:http\://omim.org/entry/300624, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "FRAGILE X MENTAL RETARDATION SYNDROME" EXACT [] synonym: "MARKER X SYNDROME" EXACT [] synonym: "MARTIN-BELL SYNDROME" EXACT [] xref: GARD:6464 xref: ICD10CM:Q99.2 xref: ICD9CM:759.83 xref: MESH:D005600 xref: MIM:300624 xref: NCI:C84717 xref: ORDO:908 xref: SNOMEDCT_US_2023_03_01:390007001 xref: UMLS_CUI:C0016667 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:14262 name: oral candidiasis def: "A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes." [url:http\://en.wikipedia.org/wiki/Oral_candidiasis] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Candidiasis of mouth" EXACT [] synonym: "Oral moniliasis" EXACT [] synonym: "thrush" EXACT [] synonym: "Thrush, oral" EXACT [] xref: ICD10CM:B37.9 xref: ICD9CM:112.0 xref: MESH:D002180 xref: NCI:C28137 xref: SNOMEDCT_US_2023_03_01:187006006 xref: UMLS_CUI:C0006849 is_a: DOID:1508 ! candidiasis is_a: DOID:403 ! mouth disease [Term] id: DOID:14263 name: obsolete fits in newborn synonym: "Convulsions in newborn" EXACT [] synonym: "Convulsions in the newborn (disorder)" EXACT [] synonym: "Seizures in newborn" EXACT [] is_obsolete: true [Term] id: DOID:14264 name: benign neonatal seizures def: "A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion." [url:http\://en.wikipedia.org/wiki/Benign_familial_neonatal_epilepsy, url:http\://www.ncbi.nlm.nih.gov/books/NBK32534/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140927] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "benign familial neonatal seizures" EXACT [] synonym: "benign neonatal convulsions" EXACT [] xref: MESH:D020936 xref: MIM:121200 xref: MIM:121201 xref: MIM:269720 xref: NCI:C84593 xref: ORDO:1949 xref: SNOMEDCT_US_2023_03_01:38281008 xref: UMLS_CUI:C0270851 is_a: DOID:0050702 ! neonatal period electroclinical syndrome [Term] id: DOID:14265 name: pulmonary valve insufficiency alt_id: DOID:11210 def: "A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur." [url:http\://en.wikipedia.org/wiki/pulmonary_insufficiency] comment: Replacing outdated UMLS CUI. subset: NCIthesaurus synonym: "pulmonary incompetence" EXACT [] synonym: "pulmonary incompetence, non-rheumatic" EXACT [] synonym: "pulmonary insufficiency following trauma and surgery" EXACT [] synonym: "pulmonary regurg." EXACT [] synonym: "pulmonary regurgitation" EXACT [] synonym: "Pulmonic insufficiency" EXACT [] synonym: "Pulmonic valve regurgitation" EXACT [] xref: MESH:D011665 xref: NCI:C62436 xref: SNOMEDCT_US_2023_03_01:91434003 xref: UMLS_CUI:C0034088 is_a: DOID:5749 ! pulmonary valve disease property_value: exactMatch "MESH:D011665" xsd:string [Term] id: DOID:14268 name: sclerosing cholangitis synonym: "fibrosing cholangitis" EXACT [] xref: EFO:0004268 xref: ICD10CM:K83.09 xref: MESH:D015209 xref: SNOMEDCT_US_2023_03_01:4032000 xref: UMLS_CUI:C0008313 is_a: DOID:9446 ! cholangitis [Term] id: DOID:14269 name: suppurative cholangitis subset: NCIthesaurus xref: ICD10CM:K83.09 xref: NCI:C35336 xref: SNOMEDCT_US_2023_03_01:197437002 xref: UMLS_CUI:C0267924 is_a: DOID:9446 ! cholangitis [Term] id: DOID:1427 name: obsolete disorder of pancreatic internal secretion synonym: "disorder of pancreatic internal secretion (disorder)" EXACT [] synonym: "Unspecified disorder of pancreatic internal secretion" EXACT [] is_obsolete: true [Term] id: DOID:14270 name: ascending cholangitis subset: NCIthesaurus xref: ICD10CM:K83.09 xref: NCI:C35372 xref: SNOMEDCT_US_2023_03_01:26918003 xref: UMLS_CUI:C0311273 is_a: DOID:9446 ! cholangitis [Term] id: DOID:14271 name: acute cholangitis subset: NCIthesaurus xref: NCI:C35334 xref: SNOMEDCT_US_2023_03_01:6215006 xref: UMLS_CUI:C0267917 is_a: DOID:9446 ! cholangitis [Term] id: DOID:14272 name: pericholangitis subset: NCIthesaurus xref: NCI:C34916 xref: SNOMEDCT_US_2023_03_01:111373008 xref: UMLS_CUI:C0031052 is_a: DOID:9446 ! cholangitis [Term] id: DOID:14275 name: atrophic vulva def: "A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800285/] synonym: "Atrophy of vulva" EXACT [] xref: ICD10CM:N90.5 xref: ICD9CM:624.1 xref: SNOMEDCT_US_2023_03_01:82614005 xref: UMLS_CUI:C0156393 is_a: DOID:2059 ! vulvar disease [Term] id: DOID:14276 name: shoulder impingement syndrome synonym: "Impingement syndrome of shoulder region" EXACT [] synonym: "Subacromial impingement" EXACT [] xref: ICD10CM:M75.4 xref: MESH:D019534 xref: SNOMEDCT_US_2023_03_01:128498000 xref: UMLS_CUI:C0376685 is_a: DOID:381 ! arthropathy [Term] id: DOID:14278 name: obsolete arthropathy of the hand synonym: "Arthropathy NOS, of the hand (disorder)" EXACT [] synonym: "Joint disorder NOS, of the hand (disorder)" EXACT [] synonym: "Unspecified disorder of hand joint" EXACT [] is_obsolete: true [Term] id: DOID:1428 name: endocrine pancreas disease def: "A pancreas disease that is located_in the endocrine component of the pancreas, consisting of islet cells (islets of Langerhans) that create and release important hormones directly into the bloodstream." [url:https\://columbiasurgery.org/pancreas/pancreas-and-its-functions] xref: ICD10CM:E16 xref: ICD9CM:251 xref: SNOMEDCT_US_2023_03_01:190427005 xref: UMLS_CUI:C0154189 is_a: DOID:26 ! pancreas disease [Term] id: DOID:14283 name: primary hypertrophic osteoarthropathy comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Pachydermoperiostosis of nail" EXACT [] synonym: "Pachydermoperiostosis syndrome" EXACT [] xref: ICD10CM:M89.4 xref: MESH:D010004 xref: MIM:259100 xref: NCI:C85023 xref: SNOMEDCT_US_2023_03_01:88220006 xref: UMLS_CUI:C0029411 is_a: DOID:225 ! syndrome [Term] id: DOID:14284 name: patellofemoral pain syndrome xref: MESH:D046788 xref: UMLS_CUI:C0877149 is_a: DOID:381 ! arthropathy [Term] id: DOID:14286 name: neurogenic arthropathy synonym: "Arthropathy associated with neurological disorder" EXACT [] synonym: "Charcot's arthropathy" EXACT [] synonym: "Charcot's joint" RELATED [] synonym: "Neuropathic arthropathy" EXACT [] xref: ICD10CM:M14.6 xref: ICD9CM:713.5 xref: MESH:D001177 xref: SNOMEDCT_US_2023_03_01:156514009 xref: UMLS_CUI:C0003892 is_a: DOID:381 ! arthropathy [Term] id: DOID:14287 name: brawny scleritis def: "An anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection." [url:https\://en.wikipedia.org/wiki/Scleritis, url:https\://www.aao.org/eye-health/diseases/what-is-scleritis] xref: ICD10CM:H15.02 xref: ICD9CM:379.06 xref: SNOMEDCT_US_2023_03_01:91612009 xref: UMLS_CUI:C0155356 is_a: DOID:13794 ! anterior scleritis [Term] id: DOID:14289 name: Ebstein anomaly def: "A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart." [url:http\://en.wikipedia.org/wiki/Ebstein_anomaly] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Ebstein's anomaly" EXACT [] synonym: "Ebstein's anomaly of common atrioventricular valve" EXACT [] synonym: "Ebstein's anomaly of right atrioventricular valve" EXACT [] synonym: "Ebstein's anomaly of tricuspid valve" EXACT [] xref: GARD:6313 xref: ICD10CM:Q22.5 xref: ICD9CM:746.2 xref: MESH:D004437 xref: MIM:224700 xref: NCI:C84681 xref: SNOMEDCT_US_2023_03_01:1796006 xref: UMLS_CUI:C0013481 is_a: DOID:0050826 ! tricuspid valve disease [Term] id: DOID:14291 name: Noonan syndrome with multiple lentigines def: "A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature." [url:https\://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance, url:https\://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome" EXACT [] synonym: "Generalized lentiginosis" EXACT [] synonym: "Gorlin syndrome II" EXACT [] synonym: "Lentiginosis profusa syndrome" EXACT [] synonym: "LEOPARD syndrome" EXACT [] synonym: "Moynahan syndrome" EXACT [] synonym: "Multiple lentigines syndrome" EXACT [] synonym: "Progressive cardiomyopathic lentiginosis" EXACT [] xref: GARD:1100 xref: MESH:D044542 xref: MIM:PS151100 xref: NCI:C84820 xref: ORDO:500 xref: SNOMEDCT_US_2023_03_01:111306001 xref: UMLS_CUI:C0175704 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy [Term] id: DOID:14292 name: vulvar dystrophy def: "A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1449423] subset: NCIthesaurus synonym: "Dystrophy of vulva" EXACT [] xref: ICD10CM:N90.4 xref: ICD9CM:624.0 xref: NCI:C34565 xref: SNOMEDCT_US_2023_03_01:198378001 xref: UMLS_CUI:C0013426 is_a: DOID:2059 ! vulvar disease [Term] id: DOID:14305 name: tuberculous empyema def: "A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula." [url:http\://erj.ersjournals.com/cgi/reprint/10/4/942, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=empyema] subset: NCIthesaurus xref: MESH:D004654 xref: NCI:C34575 xref: SNOMEDCT_US_2023_03_01:186184002 xref: UMLS_CUI:C0014014 is_a: DOID:3798 ! pleural empyema [Term] id: DOID:14308 name: skin epithelioid hemangioma subset: NCIthesaurus synonym: "Angiolymphoid Cutaneous hyperplasia" EXACT [] synonym: "epithelioid hemangioma of skin" EXACT [] xref: MESH:D000796 xref: NCI:C7393 xref: SNOMEDCT_US_2023_03_01:254791004 xref: UMLS_CUI:C0002989 is_a: DOID:255 ! hemangioma is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:14311 name: obsolete Norovirus gastroenteritis alt_id: DOID:11749 alt_id: DOID:2330 def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever." [url:http\://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm] synonym: "calcivirus enteritis" EXACT [] synonym: "norwalk virus enteritis" EXACT [] synonym: "small round virus enteritis" EXACT [] is_obsolete: true [Term] id: DOID:14312 name: obsolete nontoxic uninodular goiter synonym: "Non-toxic uninodular goiter (disorder)" EXACT [] synonym: "Non-toxic uninodular goiter (disorder) [Ambiguous]" EXACT [] synonym: "Non-toxic uninodular goitre" EXACT [] is_obsolete: true [Term] id: DOID:14313 name: obsolete thyroid nodule synonym: "Nodule of the Thyroid gland" EXACT [] synonym: "Thyroid nodule" EXACT [] synonym: "Thyroid nodule (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14319 name: pleuropneumonia def: "A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria." [url:http\://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=pleural%20pneumonia&alt=sh, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleuropneumonia] xref: MESH:D011001 xref: SNOMEDCT_US_2023_03_01:60485005 xref: UMLS_CUI:C0032241 is_a: DOID:552 ! pneumonia [Term] id: DOID:1432 name: blindness def: "An eye disease characterized by a lack or loss of vision." [url:https\://en.wikipedia.org/wiki/Visual_impairment, url:https\://nei.nih.gov/eyedata/blind, url:https\://www.cdc.gov/healthcommunication/toolstemplates/entertainmented/tips/Blindness.html] subset: DO_FlyBase_slim synonym: "vision impairment" EXACT [] synonym: "vision loss" EXACT [] synonym: "visual impairment" EXACT [] xref: ICD10CM:H54 xref: ICD9CM:369 xref: SNOMEDCT_US_2023_03_01:193698004 xref: UMLS_CUI:C0155020 is_a: DOID:5614 ! eye disease [Term] id: DOID:14320 name: generalized anxiety disorder def: "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation." [url:http\://en.wikipedia.org/wiki/Anxiety_disorder] subset: NCIthesaurus xref: ICD10CM:F41.1 xref: ICD9CM:300.02 xref: NCI:C92622 xref: SNOMEDCT_US_2023_03_01:192401002 xref: UMLS_CUI:C0270549 is_a: DOID:2030 ! anxiety disorder [Term] id: DOID:14323 name: Marfan syndrome def: "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens." [url:https\://ghr.nlm.nih.gov/condition/marfan-syndrome#inheritance, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34807, url:https\://rarediseases.org/rare-diseases/marfan-syndrome/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Marfan's syndrome" EXACT [] xref: GARD:6975 xref: ICD10CM:Q87.4 xref: ICD9CM:759.82 xref: MESH:D008382 xref: MIM:154700 xref: NCI:C34807 xref: SNOMEDCT_US_2023_03_01:19346006 xref: UMLS_CUI:C0024796 is_a: DOID:520 ! aortic disease is_a: DOID:5614 ! eye disease is_a: DOID:65 ! connective tissue disease property_value: exactMatch "MESH:D008382" xsd:string [Term] id: DOID:14324 name: Plasmodium malariae malaria def: "A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malariae%20malaria] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Malaria by Plasmodium malariae" EXACT [] synonym: "Quartan Malaria" EXACT [] xref: ICD10CM:B52 xref: ICD9CM:084.2 xref: NCI:C34799 xref: SNOMEDCT_US_2023_03_01:27618009 xref: UMLS_CUI:C0024536 is_a: DOID:12365 ! malaria [Term] id: DOID:14325 name: mixed malaria def: "A malaria that involves infection with more than one species of Plasmodium at the same time." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15105024] subset: DO_infectious_disease_slim synonym: "malaria by more than one parasite" EXACT [] synonym: "Malaria fever by more than one parasite" EXACT [] xref: ICD9CM:084.5 xref: SNOMEDCT_US_2023_03_01:21070001 xref: UMLS_CUI:C0153121 is_a: DOID:12365 ! malaria [Term] id: DOID:14326 name: obsolete avian malaria def: "A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia." [url:http\://en.wikipedia.org/wiki/Avian_malaria] synonym: "Avian malaria (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14327 name: obsolete gonococcal pericarditis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Gonococcal pericarditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14330 name: Parkinson's disease def: "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." [url:http\://en.wikipedia.org/wiki/Parkinson%27s_disease, url:https\://pubmed.ncbi.nlm.nih.gov/26474316/, url:https\://www.ncbi.nlm.nih.gov/articles/PMC5877503/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "paralysis agitans" EXACT [] synonym: "Parkinson disease" EXACT [] xref: GARD:10251 xref: ICD10CM:G20 xref: ICD9CM:332 xref: KEGG:05012 xref: MESH:D010300 xref: MIM:PS168600 xref: NCI:C26845 xref: ORDO:2828 xref: SNOMEDCT_US_2023_03_01:49049000 xref: UMLS_CUI:C0030567 is_a: DOID:0050890 ! synucleinopathy [Term] id: DOID:14332 name: postencephalitic Parkinson disease subset: NCIthesaurus synonym: "postencephalitic parkinsonism" EXACT [] xref: ICD10CM:G21.3 xref: MESH:D010301 xref: NCI:C34898 xref: SNOMEDCT_US_2023_03_01:192828004 xref: UMLS_CUI:C0030568 is_a: DOID:13548 ! secondary Parkinson disease [Term] id: DOID:14336 name: estrogen excess def: "An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen." [url:https\://en.wikipedia.org/wiki/Hyperestrogenism] subset: NCIthesaurus synonym: "hyperestrogenism" EXACT [] xref: ICD10CM:E28.0 xref: ICD9CM:256.0 xref: NCI:C113344 xref: SNOMEDCT_US_2023_03_01:190533004 xref: UMLS_CUI:C0154209 is_a: DOID:1414 ! ovarian dysfunction [Term] id: DOID:14338 name: obsolete Pseudomonal pneumonia def: "A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias." [url:http\://en.wikipedia.org/wiki/Pseudomonas_aeruginosa, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2425928/pdf/postmedj00237-0064.pdf] subset: gram-negative_bacterial_infectious_disease synonym: "Pneumonia due to Pseudomonas" EXACT [] synonym: "Pneumonia due to Pseudomonas (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14339 name: obsolete paraphrenia synonym: "Paraphrenia" EXACT [] synonym: "Paraphrenia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14350 name: suppurative thyroiditis subset: NCIthesaurus synonym: "acute suppurative thyroiditis" EXACT [] synonym: "Infectious thyroiditis" EXACT [] xref: ICD10CM:E06.0 xref: MESH:D013969 xref: NCI:C129724 xref: SNOMEDCT_US_2023_03_01:3511005 xref: UMLS_CUI:C0040150 is_a: DOID:7166 ! thyroiditis [Term] id: DOID:14351 name: Riedel's fibrosing thyroiditis subset: NCIthesaurus synonym: "Riedel fibrosing thyroiditis" EXACT [] xref: ICD10CM:E06.5 xref: NCI:C35827 xref: SNOMEDCT_US_2023_03_01:190298005 xref: UMLS_CUI:C0154162 is_a: DOID:7166 ! thyroiditis [Term] id: DOID:14353 name: acute thyroiditis xref: ICD10CM:E06.0 xref: ICD9CM:245.0 xref: SNOMEDCT_US_2023_03_01:154665005 xref: UMLS_CUI:C0001360 is_a: DOID:7166 ! thyroiditis [Term] id: DOID:1436 name: corneal ectasia xref: ICD10CM:H18.71 xref: ICD9CM:371.71 xref: SNOMEDCT_US_2023_03_01:14748007 xref: UMLS_CUI:C0155135 is_a: DOID:10124 ! corneal disease [Term] id: DOID:14360 name: obsolete Opisthorchis viverrini infectious disease def: "A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm] synonym: "Infection by Opisthorchis viverrini (disorder)" EXACT [] synonym: "Opisthorchis Viverrini Infection" EXACT [] is_obsolete: true [Term] id: DOID:14363 name: obsolete congenital syphilitic meningitis subset: gram-negative_bacterial_infectious_disease synonym: "Congenital syphilitic meningitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14365 name: systemic primary carnitine deficiency disease alt_id: DOID:1668 def: "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy." [url:http\://en.wikipedia.org/wiki/Carnitine_deficiency] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "carnitine transporter deficiency" EXACT [] synonym: "carnitine uptake defect" EXACT [] synonym: "deficiency of plasma-membrane carnitine transporter" EXACT [] synonym: "primary carnitine deficiency" EXACT [] synonym: "renal carnitine transport defect" EXACT [] xref: ICD10CM:E71.41 xref: ICD9CM:277.81 xref: MESH:C536778 xref: MIM:212140 xref: NCI:C98864 xref: SNOMEDCT_US_2023_03_01:21764004 xref: UMLS_CUI:C0342788 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:14374 name: norwegian scabies def: "A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Crusted scabies" EXACT [] xref: NCI:C34855 xref: SNOMEDCT_US_2023_03_01:128870005 xref: UMLS_CUI:C0028425 is_a: DOID:8295 ! scabies [Term] id: DOID:14384 name: parietal lobe neoplasm alt_id: DOID:14383 def: "A cerebrum cancer that is located_in the parietal lobe." [url:http\://en.wikipedia.org/wiki/Parietal_lobe] subset: NCIthesaurus synonym: "malignant neoplasm of parietal lobe" EXACT [] synonym: "tumor of Parietal Lobe" EXACT [] xref: ICD10CM:C71.3 xref: ICD9CM:191.3 xref: NCI:C5573 xref: SNOMEDCT_US_2023_03_01:126956001 xref: SNOMEDCT_US_2023_03_01:93946000 xref: UMLS_CUI:C0153637 xref: UMLS_CUI:C1263888 is_a: DOID:368 ! cerebrum cancer [Term] id: DOID:1439 name: pyuria subset: NCIthesaurus synonym: "Pus cells in urine" EXACT [] xref: ICD10CM:R82.81 xref: MESH:D011776 xref: NCI:C119028 xref: SNOMEDCT_US_2023_03_01:4800001 xref: UMLS_CUI:C0034359 is_a: DOID:18 ! urinary system disease [Term] id: DOID:14392 name: thrombophlebitis migrans def: "A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations." [url:http\://en.wikipedia.org/wiki/Thrombophlebitis] xref: ICD10CM:I82.1 xref: ICD9CM:453.1 xref: SNOMEDCT_US_2023_03_01:155491005 xref: UMLS_CUI:C0152250 is_a: DOID:3875 ! thrombophlebitis [Term] id: DOID:14397 name: protozoal dysentery def: "A dysentery that involves protozoan infection." [url:http\://en.wikipedia.org/wiki/Dysentery] xref: ICD10CM:A07.8 xref: ICD9CM:007.8 xref: SNOMEDCT_US_2023_03_01:186127007 xref: UMLS_CUI:C0152507 is_a: DOID:12384 ! dysentery [Term] id: DOID:1440 name: Machado-Joseph disease def: "An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene." [url:http\://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease, url:http\://omim.org/entry/109150, url:http\://rarediseases.org/rare-disease-information/rare-diseases/byID/110/viewAbstract] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Azorean disease" EXACT [] synonym: "MJD" EXACT OMO:0003012 [] synonym: "SCA3" EXACT OMO:0003012 [] synonym: "spinocerebellar ataxia 3" EXACT [] synonym: "spinocerebellar ataxia type 3" EXACT [] xref: GARD:6801 xref: MESH:D017827 xref: MIM:109150 xref: NCI:C84830 xref: ORDO:98757 xref: SNOMEDCT_US_2023_03_01:91952008 xref: UMLS_CUI:C0024408 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia property_value: exactMatch "MESH:D017827" xsd:string [Term] id: DOID:14400 name: capillary leak syndrome def: "A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5481509/] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:1084 xref: MESH:D019559 xref: NCI:C62578 xref: ORDO:188 xref: SNOMEDCT_US_2023_03_01:87730004 xref: UMLS_CUI:C0343084 is_a: DOID:1271 ! capillary disease property_value: exactMatch "MESH:D019559" xsd:string [Term] id: DOID:14401 name: obsolete cutis marmorata synonym: "Cutis Marmorata" EXACT [] synonym: "Cutis marmorata (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14402 name: critical illness polyneuropathy xref: ICD10CM:G62.81 xref: ICD9CM:357.82 xref: MESH:D011115 xref: SNOMEDCT_US_2023_03_01:230594005 xref: UMLS_CUI:C0393851 is_a: DOID:2537 ! inflammatory and toxic neuropathy [Term] id: DOID:1441 name: autosomal dominant cerebellar ataxia alt_id: DOID:2478 def: "A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance." [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138/, url:http\://www.ncbi.nlm.nih.gov/books/NBK22234/] subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "spinocerebellar ataxia" EXACT [] xref: MESH:D020754 xref: MIM:PS164400 xref: NCI:C82341 xref: ORDO:94 xref: SNOMEDCT_US_2023_03_01:129609000 xref: UMLS_CUI:C0087012 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050753 ! cerebellar ataxia [Term] id: DOID:14413 name: labyrinthine bilateral reactive loss synonym: "Bilateral loss of labyrinthine reactivity" EXACT [] synonym: "Loss of labyrinthine reactivity, bilateral" EXACT [] xref: ICD9CM:386.56 xref: SNOMEDCT_US_2023_03_01:2058001 xref: UMLS_CUI:C0155520 is_a: DOID:566 ! labyrinthine dysfunction [Term] id: DOID:14415 name: Legg-Calve-Perthes disease alt_id: DOID:14561 def: "An osteochondrosis that results_in death and fracture located_in hip joint." [url:http\://en.wikipedia.org/wiki/Legg%E2%80%93Calv%C3%A9%E2%80%93Perthes_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Calve - Perthes' disease" EXACT [] synonym: "Coxa plana" EXACT [] synonym: "Juvenile osteochond-hip/pelvis" EXACT [] synonym: "juvenile osteochondrosis of hip and pelvis" EXACT [] synonym: "Juvenile osteochondrosis of hip and/or pelvis" EXACT [] synonym: "Legg-Calve-Perthes symptom" RELATED [] synonym: "osteochondrosis of Legg-Calve-Perthes" EXACT [] synonym: "Perthe's disease" EXACT [] synonym: "Perthes disease" EXACT [] synonym: "pseudocoxalgia" EXACT [] xref: GARD:6874 xref: ICD10CM:M91.2 xref: MESH:D007873 xref: MIM:150600 xref: NCI:C34766 xref: SNOMEDCT_US_2023_03_01:15739006 xref: SNOMEDCT_US_2023_03_01:270545000 xref: UMLS_CUI:C0022441 xref: UMLS_CUI:C0023234 is_a: DOID:8125 ! osteochondrosis [Term] id: DOID:14418 name: dracunculiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection." [url:http\://en.wikipedia.org/wiki/Dracunculiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Dracunculiasis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Dracontiasis" EXACT [] synonym: "Infection by Dracunculus medinensis" EXACT [] xref: GARD:6286 xref: ICD10CM:B72 xref: ICD9CM:125.7 xref: MESH:D004320 xref: NCI:C84677 xref: SNOMEDCT_US_2023_03_01:48874008 xref: UMLS_CUI:C0013100 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:14419 name: obsolete Mansonella ozzardi infectious disease def: "A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm] synonym: "Filariasis ozzardi infection" EXACT [] synonym: "Mansonella Ozzardi Infection" EXACT [] synonym: "Ozzardian filariasis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1442 name: obsolete Alpers syndrome is_obsolete: true [Term] id: DOID:14421 name: obsolete Brugia malayi filariasis def: "A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection." [] is_obsolete: true [Term] id: DOID:14422 name: dipetalonemiasis def: "A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis." [url:http\://books.google.com/books?id=OBZbR4vpg0YC&pg=PA158&lpg#v=onepage&q&f=false] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "dipetalonema infectious disease" EXACT [] synonym: "Infection by Dipetalonema" EXACT [] synonym: "Infection by Dipetalonema perstans" EXACT [] xref: ICD9CM:125.4 xref: MESH:D004154 xref: NCI:C34540 xref: SNOMEDCT_US_2023_03_01:15629006 xref: UMLS_CUI:C0012517 is_a: DOID:1080 ! filariasis is_a: DOID:37 ! skin disease is_a: DOID:5614 ! eye disease [Term] id: DOID:14423 name: glossopharyngeal neuralgia subset: DO_rare_slim xref: GARD:6519 xref: ICD10CM:G52.1 xref: ICD9CM:352.1 xref: MESH:D020435 xref: SNOMEDCT_US_2023_03_01:43763009 xref: UMLS_CUI:C0154731 is_a: DOID:3418 ! glossopharyngeal nerve disease [Term] id: DOID:14425 name: obsolete secondary malignant neoplasm of intra-abdominal lymph node synonym: "metastasis to intra-abdominal lymph node" EXACT [] synonym: "secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes" EXACT [] synonym: "secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes (disorder)" EXACT [] synonym: "secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes NOS (disorder)" EXACT [] synonym: "secondary malignant neoplasm of intra-abdominal lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14426 name: obsolete secondary malignant neoplasm of intrathoracic lymph node synonym: "metastasis to intrathoracic lymph node" EXACT [] synonym: "secondary and unspecified malignant neoplasm of intrathoracic lymph nodes" EXACT [] synonym: "secondary and unspecified malignant neoplasm of intrathoracic lymph nodes (disorder)" EXACT [] synonym: "secondary and unspecified malignant neoplasm of intrathoracic lymph nodes NOS (disorder)" EXACT [] synonym: "secondary malignant neoplasm of intrathoracic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14427 name: abnormality of glucagon secretion synonym: "Glucagon secretion abnormality" EXACT [] xref: ICD9CM:251.4 xref: SNOMEDCT_US_2023_03_01:11178005 xref: UMLS_CUI:C0154191 is_a: DOID:1428 ! endocrine pancreas disease [Term] id: DOID:1443 name: cerebral degeneration def: "A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue." [url:https\://en.wikipedia.org/wiki/Neurodegeneration] subset: DO_RAD_slim subset: DO_rare_slim synonym: "Brain degeneration" EXACT [] xref: GARD:6019 xref: ICD9CM:331.9 xref: SNOMEDCT_US_2023_03_01:52522001 xref: UMLS_CUI:C0154671 is_a: DOID:936 ! brain disease [Term] id: DOID:14433 name: obsolete enterohemorrhagic Escherichia coli infectious disease def: "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge." [url:http\://www.textbookofbacteriology.net/e.coli_4.html] subset: gram-negative_bacterial_infectious_disease synonym: "intestinal infection due to enterohemorrhagic E. coli" EXACT [] synonym: "Verotoxigenic Escherichia coli gastrointestinal tract infection" EXACT [] synonym: "Verotoxigenic Escherichia coli gastrointestinal tract infection (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14434 name: obsolete enterotoxigenic Escherichia coli infectious disease def: "An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever." [url:http\://www.textbookofbacteriology.net/e.coli_4.html] subset: gram-negative_bacterial_infectious_disease synonym: "Enterotoxigenic Escherichia coli gastrointestinal tract infection" EXACT [] synonym: "Enterotoxigenic Escherichia coli gastrointestinal tract infection (disorder)" EXACT [] synonym: "intestinal infection due to enterotoxigenic E. coli" EXACT [] is_obsolete: true [Term] id: DOID:14435 name: chronic tubotympanic suppurative otitis media def: "A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections." [url:http\://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA101&lpg#v=onepage&q=&f=false] xref: ICD10CM:H66.1 xref: ICD9CM:382.1 xref: SNOMEDCT_US_2023_03_01:87665008 xref: UMLS_CUI:C0155440 is_a: DOID:11506 ! suppurative otitis media [Term] id: DOID:14443 name: cholinergic urticaria def: "A physical urticaria induced by sweating." [url:http\://en.wikipedia.org/wiki/Cholinergic_urticaria, url:http\://www.dermnetnz.org/reactions/urticaria.html] xref: ICD10CM:L50.5 xref: ICD9CM:708.5 xref: SNOMEDCT_US_2023_03_01:73098005 xref: UMLS_CUI:C0152230 is_a: DOID:0060220 ! physical urticaria [Term] id: DOID:14444 name: sclerosing keratitis def: "A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection." [url:https\://www.aao.org/eye-health/diseases/what-is-scleritis] synonym: "Sclerokeratitis" EXACT [] xref: ICD10CM:H16.33 xref: ICD9CM:370.54 xref: SNOMEDCT_US_2023_03_01:27886001 xref: UMLS_CUI:C0155090 is_a: DOID:9858 ! deep keratitis [Term] id: DOID:14445 name: chronic closed-angle glaucoma def: "A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component." [url:https\://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma] synonym: "Anatomical narrow angle glaucoma" EXACT [] synonym: "chronic angle-closure glaucoma" EXACT [] synonym: "chronic narrow angle glaucoma" EXACT [] xref: ICD10CM:H40.22 xref: ICD9CM:365.23 xref: SNOMEDCT_US_2023_03_01:33647009 xref: UMLS_CUI:C0154947 is_a: DOID:1405 ! primary angle-closure glaucoma [Term] id: DOID:14447 name: gonadal dysgenesis def: "A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo." [url:http\://en.wikipedia.org/wiki/Gonadal_dysgenesis] subset: DO_rare_slim subset: NCIthesaurus synonym: "Gonadal dysgenesis syndrome" EXACT [] xref: GARD:2538 xref: ICD9CM:758.6 xref: MESH:D006059 xref: NCI:C61420 xref: SNOMEDCT_US_2023_03_01:268356004 xref: UMLS_CUI:C0018051 is_a: DOID:1923 ! disorder of sexual development [Term] id: DOID:14448 name: 46,XY sex reversal def: "A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo." [url:http\://en.wikipedia.org/wiki/XY_gonadal_dysgenesis, url:https\://ghr.nlm.nih.gov/condition/swyer-syndrome#synonyms] comment: The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus synonym: "46 XY gonadal dysgenesis" EXACT [] synonym: "Pure gonadal dysgenesis 46,XY" EXACT [] synonym: "Swyer syndrome" EXACT [] xref: MESH:D006061 xref: MIM:607080 xref: MIM:PS400044 xref: NCI:C120198 xref: UMLS_CUI:C0018054 is_a: DOID:14447 ! gonadal dysgenesis [Term] id: DOID:14449 name: mixed gonadal dysgenesis def: "A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis." [url:https\://www.pathologyoutlines.com/topic/ovarynontumormixedgonadaldysgenesis.html] subset: NCIthesaurus xref: MESH:D006060 xref: NCI:C120199 xref: SNOMEDCT_US_2023_03_01:205682006 xref: UMLS_CUI:C0018055 is_a: DOID:14447 ! gonadal dysgenesis [Term] id: DOID:14450 name: 46 XX gonadal dysgenesis def: "A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female." [url:http\://en.wikipedia.org/wiki/XX_gonadal_dysgenesis, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=243] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "ovarian dysgenesis" EXACT [] xref: MESH:D023961 xref: MIM:PS233300 xref: NCI:C120197 xref: ORDO:243 xref: UMLS_CUI:C0949595 is_a: DOID:14447 ! gonadal dysgenesis [Term] id: DOID:14451 name: hyperkalemic periodic paralysis comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "familial hyperkalemic periodic paralysis" EXACT [] xref: GARD:195 xref: ICD10CM:G72.3 xref: MESH:D020513 xref: MIM:170500 xref: NCI:C123429 xref: ORDO:682 xref: SNOMEDCT_US_2023_03_01:304737009 xref: UMLS_CUI:C0238357 is_a: DOID:1029 ! familial periodic paralysis [Term] id: DOID:14452 name: hypokalemic periodic paralysis comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "familial hypokalemic periodic paralysis" EXACT [] synonym: "Hypokalemic familial periodic paralysis" EXACT [] synonym: "periodic hypokalemic paralysis" EXACT [] synonym: "Periodic paralysis I" EXACT [] synonym: "Westphal disease" EXACT [] xref: GARD:5557 xref: GARD:6729 xref: ICD10CM:G72.3 xref: MESH:D020514 xref: MIM:170400 xref: MIM:613345 xref: NCI:C84775 xref: ORDO:681 xref: SNOMEDCT_US_2023_03_01:240093008 xref: UMLS_CUI:C0238358 is_a: DOID:1029 ! familial periodic paralysis [Term] id: DOID:14453 name: farmer's lung def: "An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness." [url:http\://www.merck.com/media/mmpe/pdf/Table_055-5.pdf, url:http\://www.merriam-webster.com/dictionary/farmer%27s%20lung] subset: DO_rare_slim subset: NCIthesaurus synonym: "farmer lung" EXACT [] synonym: "Farmers lung" EXACT [] xref: GARD:6427 xref: ICD10CM:J67.0 xref: ICD9CM:495.0 xref: MESH:D005203 xref: NCI:C34605 xref: SNOMEDCT_US_2023_03_01:155581001 xref: UMLS_CUI:C0015634 is_a: DOID:841 ! extrinsic allergic alveolitis [Term] id: DOID:14456 name: Brucella melitensis brucellosis def: "A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain." [url:http\://www.bmj.com/cgi/reprint/1/5644/612.pdf] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease xref: ICD10CM:A23.0 xref: ICD9CM:023.0 xref: SNOMEDCT_US_2023_03_01:186305007 xref: UMLS_CUI:C0302362 is_a: DOID:11077 ! brucellosis [Term] id: DOID:14457 name: Brucella abortus brucellosis def: "A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia." [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/10790142] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease xref: ICD10CM:A23.1 xref: ICD9CM:023.1 xref: MESH:D002007 xref: SNOMEDCT_US_2023_03_01:427795000 xref: UMLS_CUI:C0302363 is_a: DOID:11077 ! brucellosis [Term] id: DOID:14459 name: hemangioma of orbit subset: NCIthesaurus synonym: "Angioma of the orbit" EXACT [] xref: NCI:C6245 xref: SNOMEDCT_US_2023_03_01:121951000119101 xref: UMLS_CUI:C1335128 is_a: DOID:930 ! orbital disease [Term] id: DOID:14463 name: cavernous hemangioma of orbit subset: NCIthesaurus synonym: "Cavernous Angioma of orbit" EXACT [] xref: NCI:C4546 xref: SNOMEDCT_US_2023_03_01:254998002 xref: UMLS_CUI:C0346352 is_a: DOID:483 ! cavernous hemangioma [Term] id: DOID:14464 name: neuroleptic malignant syndrome def: "A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers." [url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12561] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7195 xref: ICD10CM:G21.0 xref: ICD9CM:333.92 xref: MESH:D009459 xref: NCI:C94829 xref: ORDO:94093 xref: SNOMEDCT_US_2023_03_01:15244003 xref: UMLS_CUI:C0027849 is_a: DOID:863 ! nervous system disease [Term] id: DOID:14467 name: obsolete drug-induced persisting amnestic disease is_obsolete: true [Term] id: DOID:14472 name: hantavirus pulmonary syndrome def: "A viral infectious disease that results in infection located in lung, has_material_basis_in Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Orthohantavirus nigrorivense, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Orthohantavirus bayoui, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Orthohantavirus negraense, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Orthohantavirus andesense, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications." [url:http\://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false, url:http\://www.cdc.gov/ncidod/diseases/hanta/hps/noframes/generalinfoindex.htm, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/10742726, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hantavirus%20pulmonary%20syndrome] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus subset: zoonotic_infectious_disease xref: GARD:69 xref: MESH:D018804 xref: NCI:C84747 xref: SNOMEDCT_US_2023_03_01:120639003 xref: UMLS_CUI:C0243025 is_a: DOID:850 ! lung disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:14473 name: obsolete adenovirus pneumonia def: "An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells." [url:http\://en.wikipedia.org/wiki/Adenovirus_infection, url:http\://virology-online.com/viruses/Adenoviruses3.htm] synonym: "Pneumonia due to adenovirus" EXACT [] is_obsolete: true [Term] id: DOID:14474 name: obsolete respiratory syncytial virus pneumonia def: "A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium." [url:http\://books.google.com/books?id=12k1sTIyp1kC&pg=PA117&lpg#v=onepage&q=&f=false, url:http\://www.cdc.gov/RSV/, url:http\://www.merck.com/mmhe/sec23/ch273/ch273i.htm] synonym: "Pneumonia due to respiratory syncytial virus (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14475 name: obsolete parainfluenzal pneumonia def: "A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever." [url:http\://books.google.com/books?id=nWtVT4n0yM8C&pg=RA1-PA452&lpg#v=onepage&q=&f=false, url:http\://www.springerlink.com/content/d3540088547u2n43/fulltext.pdf] synonym: "Parainfluenza virus pneumonia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14476 name: obsolete SARS coronavirus pneumonia def: "A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure." [url:http\://en.wikipedia.org/wiki/SARS, url:http\://www.doh.gov.ph/sars/may16.pdf] synonym: "SARS-associated coronavirus pneumonia" EXACT [] is_obsolete: true [Term] id: DOID:14477 name: obsolete Cytomegalovirus pneumonia def: "A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000664.htm] synonym: "Cytomegaloviral pneumonia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14482 name: pemphigoid gestationis def: "A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062810/] subset: NCIthesaurus synonym: "Gestational herpes" EXACT [] synonym: "herpes gestationis" EXACT [] xref: ICD10CM:O26.4 xref: MESH:D006559 xref: NCI:C85003 xref: SNOMEDCT_US_2023_03_01:86081009 xref: UMLS_CUI:C0019343 is_a: DOID:0080841 ! pemphigoid [Term] id: DOID:14483 name: chorea gravidarum xref: MESH:D020150 xref: SNOMEDCT_US_2023_03_01:25113000 xref: UMLS_CUI:C0264746 is_a: DOID:12859 ! choreatic disease [Term] id: DOID:14484 name: sporotrichosis def: "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation." [url:https\://www.health.ny.gov/diseases/communicable/sporotrichosis/fact_sheet.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim xref: GARD:7692 xref: ICD10CM:B42 xref: ICD9CM:117.1 xref: MESH:D013174 xref: SNOMEDCT_US_2023_03_01:266218008 xref: UMLS_CUI:C0038034 is_a: DOID:0050292 ! primary systemic mycosis [Term] id: DOID:14489 name: ureteral lymphoma subset: NCIthesaurus synonym: "lymphoma of ureter" EXACT [] xref: NCI:C6175 xref: UMLS_CUI:C1336876 is_a: DOID:0060058 ! lymphoma is_a: DOID:11819 ! ureter cancer [Term] id: DOID:14490 name: obsolete metastasis to the ureter synonym: "metastatic neoplasm to the Ureter" EXACT [] synonym: "secondary malignant neoplasm of ureter (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14491 name: regional ureteric cancer subset: NCIthesaurus synonym: "regional malignant ureteral tumor" EXACT [] synonym: "regional Ureteric carcinoma" EXACT [] xref: NCI:C9356 xref: UMLS_CUI:C0854921 is_a: DOID:4939 ! ureter carcinoma [Term] id: DOID:14492 name: obsolete metastatic neoplasm of ureter synonym: "Ureter metastatic malignant neoplasm" EXACT [] is_obsolete: true [Term] id: DOID:14495 name: dumping syndrome subset: NCIthesaurus synonym: "Dumping (jejunal) syndrome" EXACT [] synonym: "Jejunal syndrome" EXACT [] xref: ICD10CM:K91.1 xref: MESH:D004377 xref: NCI:C2994 xref: SNOMEDCT_US_2023_03_01:155785007 xref: UMLS_CUI:C0013288 is_a: DOID:8439 ! postgastrectomy syndrome [Term] id: DOID:14497 name: Wolman disease def: "A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life." [url:https\://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/, url:https\://www.ncbi.nlm.nih.gov/books/NBK395569/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Acid esterase deficiency" EXACT [] synonym: "Acid lipase deficiency" EXACT [] synonym: "acute infantile lysosomal acid lipase deficiency" EXACT [] synonym: "complete cholesterol ester hydrolase deficiency" EXACT [] synonym: "complete LAL deficiency" EXACT [] synonym: "complete LIPA deficiency" EXACT [] synonym: "complete lysosomal acid lipase deficiency" EXACT [] synonym: "Wolman xanthomatosis" EXACT [] synonym: "Wolman's disease" EXACT [] synonym: "Wolman's or triglyceride storage type III disease" EXACT [] synonym: "Xanthomatosis, familial" EXACT [] xref: GARD:7899 xref: ICD10CM:E75.5 xref: MESH:D015223 xref: MIM:620151 xref: NCI:C61271 xref: ORDO:75233 xref: SNOMEDCT_US_2023_03_01:82500001 xref: UMLS_CUI:C0043208 is_a: DOID:0080217 ! lysosomal acid lipase deficiency property_value: broadMatch "ICD10CM:E75.5" xsd:string property_value: exactMatch "MIM:620151" xsd:string property_value: exactMatch "ORDO:75233" xsd:string [Term] id: DOID:14498 name: lipoid proteinosis comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Lipid proteinosis" EXACT [] synonym: "URBACH-WIETHE DISEASE" EXACT [] xref: GARD:3268 xref: MESH:D008065 xref: MIM:247100 xref: NCI:C84829 xref: SNOMEDCT_US_2023_03_01:38692000 xref: UMLS_CUI:C0023795 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:14499 name: Fabry disease def: "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." [url:https\://ghr.nlm.nih.gov/condition/fabry-disease] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "alpha galactosidase deficiency" EXACT [] synonym: "Alpha-galactosidase A deficiency" EXACT [] synonym: "Angiokeratoma Corporis Diffusum" EXACT [] synonym: "deficiency of melibiase" EXACT [] synonym: "Fabry Disease, Cardiac Variant" EXACT [] synonym: "Fabry's disease" EXACT [] xref: GARD:6400 xref: ICD10CM:E75.21 xref: MESH:D000795 xref: MIM:301500 xref: NCI:C84701 xref: SNOMEDCT_US_2023_03_01:16652001 xref: UMLS_CUI:C0002986 is_a: DOID:1927 ! sphingolipidosis [Term] id: DOID:145 name: obsolete papilledema associated with retinal disorder is_obsolete: true [Term] id: DOID:14500 name: fucosidosis comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "A-fucosidase deficiency" EXACT [] synonym: "alpha fucosidase deficiency" EXACT [] xref: GARD:6473 xref: ICD10CM:E77.1 xref: MESH:D005645 xref: MIM:230000 xref: NCI:C61274 xref: SNOMEDCT_US_2023_03_01:64716005 xref: UMLS_CUI:C0016788 is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:14501 name: Sjogren-Larsson syndrome def: "A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11." [url:https\://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome, url:https\://www.omim.org/entry/270200] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "FALDH deficiency" EXACT [] synonym: "fatty acid alcohol oxidoreductase deficiency" EXACT [] synonym: "Sjogren Larsson syndrome" EXACT [] synonym: "Sjogren-Larsson's syndrome" EXACT [] synonym: "SLS" EXACT OMO:0003012 [] xref: GARD:7654 xref: MESH:D016111 xref: MIM:270200 xref: NCI:C85070 xref: ORDO:816 xref: SNOMEDCT_US_2023_03_01:111303009 xref: UMLS_CUI:C0037231 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:14502 name: cholesterol ester storage disease def: "A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen." [url:https\://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/, url:https\://www.ncbi.nlm.nih.gov/books/NBK395569/] subset: DO_rare_slim synonym: "CESD" EXACT OMO:0003012 [] synonym: "partial cholesterol ester hydrolase deficiency" EXACT [] synonym: "partial LAL deficiency" EXACT [] synonym: "partial LIPA deficiency" EXACT [] synonym: "partial lysosomal acid lipase deficiency" EXACT [] xref: GARD:12099 xref: MESH:D015217 xref: MIM:278000 xref: ORDO:75234 xref: SNOMEDCT_US_2023_03_01:57218003 xref: UMLS_CUI:C0008384 is_a: DOID:0080217 ! lysosomal acid lipase deficiency property_value: exactMatch "GARD:12099" xsd:string property_value: exactMatch "MESH:D015217" xsd:string property_value: exactMatch "MIM:278000" xsd:string property_value: exactMatch "ORDO:75234" xsd:string [Term] id: DOID:14503 name: neuronal ceroid lipofuscinosis comment: Xref MGI.\nOMIM mapping submitted by NeuroDevNet. [LS]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "hereditary ceroid lipofuscinosis" EXACT [] xref: GARD:10739 xref: ICD10CM:E75.4 xref: MESH:D009472 xref: MIM:PS256730 xref: NCI:C61257 xref: ORDO:216 xref: ORDO:79262 xref: SNOMEDCT_US_2023_03_01:42012007 xref: UMLS_CUI:C0027877 is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:14504 name: Niemann-Pick disease alt_id: DOID:0050442 alt_id: DOID:0050443 alt_id: DOID:14770 def: "A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells." [url:https\://en.wikipedia.org/wiki/Niemann-Pick_disease, url:https\://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "lipoid histiocytosis" EXACT [] synonym: "sphingomyelin lipidosis" EXACT [] synonym: "Sphingomyelinase Deficiency Disease" EXACT [] xref: GARD:13334 xref: ICD10CM:E75.24 xref: MESH:D009542 xref: NCI:C61269 xref: SNOMEDCT_US_2023_03_01:58459009 xref: UMLS_CUI:C0028064 is_a: DOID:1927 ! sphingolipidosis [Term] id: DOID:14507 name: peripheral degeneration of cornea synonym: "peripheral degenerations of cornea" EXACT [] xref: ICD10CM:H18.46 xref: ICD9CM:371.48 xref: SNOMEDCT_US_2023_03_01:89182000 xref: UMLS_CUI:C0155123 is_a: DOID:1237 ! corneal degeneration [Term] id: DOID:14512 name: candidal paronychia alt_id: DOID:14511 def: "A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884921/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323378/] subset: DO_infectious_disease_slim synonym: "candidiasis of skin" EXACT [] synonym: "candidiasis of skin and nails" EXACT [] xref: ICD10CM:B37.2 xref: ICD9CM:112.3 xref: SNOMEDCT_US_2023_03_01:187014000 xref: UMLS_CUI:C0006842 is_a: DOID:1508 ! candidiasis is_a: DOID:4123 ! nail disease [Term] id: DOID:14515 name: WAGR syndrome def: "A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes." [url:http\://en.wikipedia.org/wiki/WAGR_syndrome] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "11p partial monosomy syndrome" EXACT [] synonym: "chromosome 11p13 deletion syndrome" EXACT [] synonym: "Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome" EXACT [] xref: GARD:5528 xref: MESH:D017624 xref: MIM:194072 xref: NCI:C3718 xref: SNOMEDCT_US_2023_03_01:715215007 xref: UMLS_CUI:C0206115 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:14518 name: obsolete Idiopathic cysts of iris and ciliary body is_obsolete: true [Term] id: DOID:14520 name: obsolete adenovirus gastroenteritis def: "An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever." [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/viralgastroenteritis/, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2544764/pdf/bmj00269-0005b.pdf] synonym: "adenoviral enteritis" EXACT [] synonym: "Enteritis due to adenovirus" EXACT [] is_obsolete: true [Term] id: DOID:14521 name: obsolete cutaneous breast cancer synonym: "cutaneous breast cancer" EXACT [] is_obsolete: true [Term] id: DOID:14522 name: partial arterial retinal occlusion subset: NCIthesaurus synonym: "partial retinal arterial occlusion" EXACT [] synonym: "Retinal partial arterial occlusion" EXACT [] xref: ICD10CM:H34.21 xref: ICD9CM:362.33 xref: NCI:C35192 xref: SNOMEDCT_US_2023_03_01:776009 xref: UMLS_CUI:C0154839 is_a: DOID:8483 ! retinal artery occlusion [Term] id: DOID:14523 name: Argyll Robertson pupil def: "An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10863169] synonym: "Argyll Robertson phenomenon or pupil, nonsyphilitic" EXACT [] synonym: "Argyll Robertson pupil, atypical" EXACT [] synonym: "Atypical Argyll-Robertson pupil" EXACT [] xref: ICD10CM:H57.01 xref: ICD9CM:379.45 xref: SNOMEDCT_US_2023_03_01:21011008 xref: UMLS_CUI:C0155375 is_a: DOID:11518 ! abnormal pupillary function [Term] id: DOID:14524 name: senile degeneration of brain synonym: "Senile brain degen." EXACT [] xref: ICD9CM:331.2 xref: SNOMEDCT_US_2023_03_01:267687006 xref: UMLS_CUI:C0154669 is_a: DOID:1443 ! cerebral degeneration [Term] id: DOID:14525 name: Reye syndrome def: "A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use." [url:https\://en.wikipedia.org/wiki/Reye_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/2680560] subset: DO_rare_slim subset: NCIthesaurus synonym: "Reye's syndrome" EXACT [] xref: GARD:7570 xref: ICD10CM:G93.7 xref: ICD9CM:331.81 xref: MESH:D012202 xref: NCI:C34983 xref: SNOMEDCT_US_2023_03_01:74351001 xref: UMLS_CUI:C0035400 is_a: DOID:225 ! syndrome [Term] id: DOID:14529 name: external pathological resorption xref: ICD10CM:K03.3 xref: ICD9CM:521.42 xref: SNOMEDCT_US_2023_03_01:41918006 xref: UMLS_CUI:C0266878 is_a: DOID:13240 ! tooth resorption [Term] id: DOID:1453 name: atrophic glossitis synonym: "Atrophy of tongue papillae" EXACT [] synonym: "Glossitis, Hunter's" EXACT [] synonym: "Hunter's glossitis" EXACT [] synonym: "smooth atrophic tongue" EXACT [] xref: ICD10CM:K14.4 xref: ICD9CM:529.4 xref: SNOMEDCT_US_2023_03_01:196586009 xref: UMLS_CUI:C0155964 is_a: DOID:1456 ! glossitis [Term] id: DOID:14530 name: obsolete syringomyelia and syringobulbia synonym: "Syringomyelia and syringobulbia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14534 name: malignant cardiac peripheral nerve sheath neoplasm subset: NCIthesaurus synonym: "MPNST of Heart" EXACT [] xref: NCI:C5367 xref: UMLS_CUI:C1334569 is_a: DOID:5940 ! malignant peripheral nerve sheath tumor [Term] id: DOID:14535 name: malignant cardiac germ cell tumor subset: NCIthesaurus synonym: "malignant cardiac germ cell tumour" EXACT [] synonym: "malignant germ cell tumor of the Heart" EXACT [] synonym: "malignant germ cell tumour of the Heart" EXACT [] xref: NCI:C5371 xref: SNOMEDCT_US_2023_03_01:866080006 xref: UMLS_CUI:C1334566 is_a: DOID:117 ! heart cancer [Term] id: DOID:14539 name: obsolete metastasis to heart synonym: "metastatic tumor to the Heart" EXACT [] synonym: "secondary malignant neoplasm of heart (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14542 name: obsolete macular or paramacular focal retinitis and retinochoroiditis is_obsolete: true [Term] id: DOID:14544 name: rete testis adenocarcinoma def: "A rete testis neoplasm that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of rete testis" RELATED [] synonym: "adenocarcinoma of the rete testis" EXACT [] xref: NCI:C8955 xref: UMLS_CUI:C0863024 is_a: DOID:299 ! adenocarcinoma is_a: DOID:5639 ! rete testis neoplasm [Term] id: DOID:14545 name: seminal vesicle adenocarcinoma def: "A male reproductive organ cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus xref: NCI:C39906 xref: UMLS_CUI:C1519233 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3856 ! male reproductive organ cancer [Term] id: DOID:14546 name: sphenoidal sinus cancer subset: NCIthesaurus synonym: "malignant tumor of sphenoid sinus" EXACT [] synonym: "malignant tumor of Sphenoidal sinus" EXACT [] xref: ICD10CM:C31.3 xref: ICD9CM:160.5 xref: NCI:C3543 xref: SNOMEDCT_US_2023_03_01:94067008 xref: UMLS_CUI:C0153479 is_a: DOID:0050619 ! paranasal sinus cancer [Term] id: DOID:14547 name: sphenoid sinus squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the sphenoid sinus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25748513] subset: NCIthesaurus synonym: "Epidermoid carcinoma of the Sphenoidal sinus" EXACT [] xref: NCI:C6066 xref: SNOMEDCT_US_2023_03_01:1255660002 xref: UMLS_CUI:C1336039 is_a: DOID:14546 ! sphenoidal sinus cancer is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:14548 name: steroid-induced glaucoma - borderline synonym: "Borderline glaucoma steroid responder" EXACT [] synonym: "Steroid responders borderline glaucoma" EXACT [] xref: ICD9CM:365.03 xref: SNOMEDCT_US_2023_03_01:302895007 xref: UMLS_CUI:C0339572 is_a: DOID:9283 ! borderline glaucoma [Term] id: DOID:14549 name: obsolete Tympanosclerosis involving tympanic membrane, ear ossicles and middle ear synonym: "Tympanosclerosis involving tympanic membrane, ear ossicles, and middle ear" EXACT [] synonym: "Tympanosclerosis of tympanic membrane, ossicles and middle ear (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1455 name: geographic tongue def: "An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface." [url:http\://en.wikipedia.org/wiki/Geographic_tongue] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "benign migratory glossitis" EXACT [] synonym: "Glossitis areata exfoliativa" EXACT [] synonym: "Pityriasis linguae" EXACT [] xref: GARD:6493 xref: ICD10CM:K14.1 xref: ICD9CM:529.1 xref: MESH:D005929 xref: MIM:137400 xref: NCI:C84588 xref: SNOMEDCT_US_2023_03_01:59032001 xref: UMLS_CUI:C0017677 is_a: DOID:1453 ! atrophic glossitis [Term] id: DOID:14550 name: root resorption xref: MESH:D012391 xref: UMLS_CUI:C0035851 is_a: DOID:13240 ! tooth resorption [Term] id: DOID:14555 name: Foster-Kennedy syndrome xref: ICD10CM:H47.14 xref: ICD9CM:377.04 xref: MESH:D009901 xref: SNOMEDCT_US_2023_03_01:87764000 xref: UMLS_CUI:C0152112 is_a: DOID:146 ! papilledema [Term] id: DOID:14557 name: primary pulmonary hypertension def: "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling." [url:http\://en.wikipedia.org/wiki/Pulmonary_hypertension, url:http\://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Idiopathic pulmonary arterial hypertension" EXACT [] xref: ICD10CM:I27.0 xref: ICD9CM:416.0 xref: MIM:178600 xref: MIM:265400 xref: MIM:615342 xref: MIM:615343 xref: MIM:615344 xref: ORDO:422 xref: SNOMEDCT_US_2023_03_01:26174007 xref: UMLS_CUI:C0152171 is_a: DOID:0080578 ! digenic disease is_a: DOID:12326 ! chronic pulmonary heart disease [Term] id: DOID:14558 name: obsolete nontoxic multinodular goiter synonym: "Non-toxic multinodular goiter (disorder)" EXACT [] synonym: "Non-toxic multinodular goitre" EXACT [] is_obsolete: true [Term] id: DOID:14559 name: anaerobic meningitis subset: DO_infectious_disease_slim xref: ICD9CM:320.81 xref: UMLS_CUI:C0375197 is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:1456 name: glossitis subset: NCIthesaurus xref: ICD10CM:K14.0 xref: ICD9CM:529.0 xref: MESH:D005928 xref: NCI:C112199 xref: SNOMEDCT_US_2023_03_01:155666003 xref: UMLS_CUI:C0017675 is_a: DOID:10944 ! tongue disease [Term] id: DOID:14566 name: disease of cellular proliferation alt_id: DOID:0000818 def: "A disease that is characterized by abnormally rapid cell division." [url:http\://en.wikipedia.org/w/index.php?title=Cell_proliferation] subset: DO_FlyBase_slim subset: DO_RAD_slim synonym: "cell process disease" EXACT [] synonym: "neoplasm" EXACT [] is_a: DOID:4 ! disease property_value: OBI:9991118 "neoplasm" xsd:string [Term] id: DOID:1458 name: postsurgical hypothyroidism synonym: "Post-surgical hypothyroidism" EXACT [] synonym: "Postoperative hypothyroidism" EXACT [] xref: ICD10CM:E89.0 xref: ICD9CM:244.0 xref: SNOMEDCT_US_2023_03_01:27059002 xref: UMLS_CUI:C0154157 is_a: DOID:1459 ! hypothyroidism [Term] id: DOID:1459 name: hypothyroidism alt_id: DOID:11630 def: "A thyroid gland disease which involves an underproduction of thyroid hormone." [url:https\://medlineplus.gov/hypothyroidism.html] subset: NCIthesaurus synonym: "Thyroid deficiency" EXACT [] synonym: "Thyroid insufficiency" EXACT [] xref: EFO:0004705 xref: ICD10CM:E03.9 xref: ICD9CM:244.9 xref: MESH:D007037 xref: NCI:C26800 xref: SNOMEDCT_US_2023_03_01:267465007 xref: UMLS_CUI:C0020676 is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:146 name: papilledema subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7318 xref: ICD10CM:H47.1 xref: ICD9CM:377.0 xref: MESH:D010211 xref: NCI:C3307 xref: SNOMEDCT_US_2023_03_01:423488006 xref: UMLS_CUI:C0030353 is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:1460 name: atheroembolism of kidney is_a: DOID:1461 ! cholesterol embolism is_a: DOID:557 ! kidney disease [Term] id: DOID:1461 name: cholesterol embolism def: "A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream." [url:http\://en.wikipedia.org/wiki/Cholesterol_embolism] synonym: "atheroembolism" EXACT [] synonym: "cholesterol crystal embolism" EXACT [] synonym: "purple toe syndrome" EXACT [] synonym: "trash foot" EXACT [] synonym: "warfarin blue toe syndrome" EXACT [] xref: ICD10CM:I75 xref: ICD9CM:445 xref: MESH:D017700 xref: SNOMEDCT_US_2023_03_01:10690002 xref: UMLS_CUI:C0149649 is_a: DOID:178 ! vascular disease [Term] id: DOID:1465 name: obsolete Salmonella septicemia subset: GOLD subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Salmonella septicemia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14654 name: prostatitis subset: NCIthesaurus xref: ICD10CM:N41.9 xref: ICD9CM:601.9 xref: MESH:D011472 xref: NCI:C26866 xref: SNOMEDCT_US_2023_03_01:155907007 xref: UMLS_CUI:C0033581 is_a: DOID:47 ! prostate disease [Term] id: DOID:1466 name: obsolete Salmonella infectious disease alt_id: DOID:9469 subset: gram-negative_bacterial_infectious_disease synonym: "localized Salmonella infectious disease" EXACT [] is_obsolete: true [Term] id: DOID:14669 name: acrodysostosis def: "A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency." [url:http\://children.webmd.com/acrodysostosis, url:http\://en.wikipedia.org/wiki/Acrodysostosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001248.htm] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:2015 xref: GARD:5724 xref: MESH:C538179 xref: MIM:101800 xref: MIM:614613 xref: ORDO:950 xref: SNOMEDCT_US_2023_03_01:66758006 xref: UMLS_CUI:C0220659 is_a: DOID:1934 ! dysostosis [Term] id: DOID:1467 name: serous labyrinthitis def: "A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections." [url:http\://books.google.com/books?id=QRgynJASsi8C&pg=PA221&lpg#v=onepage&q=&f=false] synonym: "acute serous labyrinthitis" EXACT [] xref: ICD9CM:386.31 xref: SNOMEDCT_US_2023_03_01:41674001 xref: UMLS_CUI:C0155504 is_a: DOID:1468 ! labyrinthitis [Term] id: DOID:14670 name: hypertelorism, microtia, facial clefting syndrome def: "A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia." [url:http\://rarediseases.info.nih.gov/gard/897/bixler-christian-gorlin-syndrome/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213, url:https\://www.ncbi.nlm.nih.gov/pubmed/11152141] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Bixler Christian Gorlin syndrome" EXACT [] synonym: "Bixler syndrome" EXACT [] synonym: "Bixler-Christian-Gorlin syndrome" EXACT [] synonym: "HMC syndrome" EXACT [] synonym: "Hypertelorism-Microtia-Clefting Syndrome" EXACT [] synonym: "Hypertelorism-microtia-facial clefting syndrome" EXACT [] xref: MESH:C537632 xref: MIM:239800 xref: ORDO:2213 xref: SNOMEDCT_US_2023_03_01:721836009 xref: UMLS_CUI:C0220742 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:14671 name: multiple intestinal atresia def: "An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23423984] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "familial intestinal polyatresia syndrome" EXACT [] synonym: "gastrointestinal defects and immunodeficiency syndrome" EXACT [] synonym: "GIDID" EXACT OMO:0003012 [] synonym: "Multiple gastrointestinal atresias" EXACT [] xref: GARD:3013 xref: MEDDRA:10028210 xref: MESH:C562441 xref: MIM:243150 xref: ORDO:2300 xref: SNOMEDCT_US_2023_03_01:95472001 xref: UMLS_CUI:C0220744 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5295 ! intestinal disease [Term] id: DOID:14676 name: obsolete congenital contricting bands comment: OMIM mapping confirmed by DO. [SN]. is_obsolete: true [Term] id: DOID:14679 name: VACTERL association def: "A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." [url:http\://en.wikipedia.org/wiki/VACTERL_association, url:http\://ghr.nlm.nih.gov/condition/vacterl-association, url:http\://www.cincinnatichildrens.org/health/v/vacterl/] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim synonym: "VATER syndrome" RELATED [] xref: GARD:5443 xref: ICD10CM:Q87.2 xref: MESH:C536534 xref: MIM:192350 xref: MIM:276950 xref: SNOMEDCT_US_2023_03_01:205830006 xref: UMLS_CUI:C0220708 is_a: DOID:225 ! syndrome [Term] id: DOID:1468 name: labyrinthitis def: "An otitis interna which involves inflammation of the labyrinths." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=LABYRINTHITIS] xref: ICD10CM:H83.0 xref: ICD9CM:386.3 xref: MESH:D007762 xref: SNOMEDCT_US_2023_03_01:155239008 xref: UMLS_CUI:C0022893 is_a: DOID:3930 ! otitis interna [Term] id: DOID:14680 name: obsolete hereditary inflammatory vasculitis synonym: "VASCULITIS, HEREDITARY INFLAMMATORY, WITH PERSISTENT NODULES" EXACT [] is_obsolete: true [Term] id: DOID:14681 name: Silver-Russell syndrome def: "A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations." [url:https\://ghr.nlm.nih.gov/condition/russell-silver-syndrome, url:https\://rarediseases.org/rare-diseases/russell-silver-syndrome/] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Silver Russell Dwarfism" EXACT [] xref: GARD:4870 xref: ICD10CM:Q87.19 xref: MESH:D056730 xref: MIM:180860 xref: NCI:C85068 xref: SNOMEDCT_US_2023_03_01:15069006 xref: UMLS_CUI:C0175693 is_a: DOID:0080015 ! physical disorder [Term] id: DOID:14683 name: Binder syndrome comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "binder type maxillonasal dysplasia" EXACT [] xref: GARD:6992 xref: MESH:C536036 xref: MIM:155050 xref: SNOMEDCT_US_2023_03_01:715985008 xref: UMLS_CUI:C0220692 is_a: DOID:2163 ! nasal cavity disease [Term] id: DOID:14686 name: Axenfeld-Rieger syndrome def: "An eye disease characterized by abnormalities of the front part of the eye, the anterior segment." [url:http\://en.wikipedia.org/wiki/Axenfeld_syndrome, url:http\://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Anomaly, Rieger's" EXACT [] synonym: "Axenfeld syndrome" EXACT [] synonym: "Hagedoom syndrome" RELATED [] synonym: "RGS - Rieger syndrome" EXACT [] synonym: "Rieger's anomaly" EXACT [] xref: GARD:5701 xref: ICD10CM:Q13.81 xref: MESH:C535679 xref: MIM:PS180500 xref: NCI:C131001 xref: ORDO:782 xref: SNOMEDCT_US_2023_03_01:47507006 xref: UMLS_CUI:C0265341 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5614 ! eye disease [Term] id: DOID:14687 name: diastrophic dysplasia def: "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." [url:http\://en.wikipedia.org/wiki/Diastrophic_dysplasia, url:http\://ghr.nlm.nih.gov/condition/diastrophic-dysplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK22219/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6275 xref: ICD10CM:Q77.5 xref: MESH:C536170 xref: MIM:222600 xref: NCI:C156311 xref: SNOMEDCT_US_2023_03_01:58561002 xref: UMLS_CUI:C0220726 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:1469 name: obsolete single major depressive episode in full remission synonym: "Major depressive disorder, single episode in full remission" EXACT [] synonym: "Single major depressive episode, in full remission (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:14692 name: Smith-Lemli-Opitz syndrome alt_id: DOID:4366 comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Rutledge lethal multiple congenital anomaly syndrome" EXACT [] synonym: "Smith-Opitz-Inborn syndrome" EXACT [] xref: GARD:5683 xref: ICD10CM:E78.72 xref: MESH:D019082 xref: MIM:270400 xref: NCI:C85071 xref: SNOMEDCT_US_2023_03_01:43929004 xref: UMLS_CUI:C0175694 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:14693 name: Clouston syndrome def: "An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12." [url:https\://pubmed.ncbi.nlm.nih.gov/8845850/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Clouston's hidrotic ectodermal dysplasia" EXACT [] synonym: "Clouston's syndrome" EXACT [] synonym: "ectodermal dysplasia 2, Clouston type" EXACT [] synonym: "hidrotic ectodermal dysplasia" EXACT [] synonym: "Hidrotic ectodermal dysplasia syndrome" EXACT [] xref: GARD:2056 xref: MESH:D004476 xref: MIM:129500 xref: SNOMEDCT_US_2023_03_01:54209007 xref: UMLS_CUI:C0162361 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:14694 name: Johanson-Blizzard syndrome def: "A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner." [url:http\://en.wikipedia.org/wiki/Johanson-Blizzard_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "JBS" EXACT OMO:0003012 [] xref: GARD:80 xref: MESH:C535880 xref: MIM:243800 xref: ORDO:2315 xref: SNOMEDCT_US_2023_03_01:75979009 xref: UMLS_CUI:C0175692 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:14695 name: galactokinase deficiency def: "A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase." [url:http\://en.wikipedia.org/wiki/Galactokinase_deficiency] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Galactosemia II" EXACT [] xref: GARD:2422 xref: ICD10CM:E74.29 xref: MESH:D005693 xref: MIM:230200 xref: NCI:C114767 xref: SNOMEDCT_US_2023_03_01:124302001 xref: UMLS_CUI:C0268155 is_a: DOID:9870 ! galactosemia [Term] id: DOID:14699 name: thrombocytopenia-absent radius syndrome def: "A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other." [url:https\://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK23758/] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Radial aplasia-thrombocytopenia syndrome" EXACT [] synonym: "Thrombocytopenia with absent radii (TAR) syndrome" EXACT [] xref: ICD10CM:Q87.2 xref: MESH:C536940 xref: MIM:274000 xref: NCI:C99038 xref: ORDO:3320 xref: SNOMEDCT_US_2023_03_01:85589009 xref: UMLS_CUI:C0175703 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:1470 name: major depressive disorder alt_id: DOID:10614 alt_id: DOID:2240 alt_id: DOID:2241 alt_id: DOID:7580 def: "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality." [url:http\://en.wikipedia.org/wiki/Major_depressive_disorder, url:https\://pubmed.ncbi.nlm.nih.gov/30333763] comment: Xref MGI. subset: NCIthesaurus synonym: "clinical depression" EXACT [] synonym: "major depression" EXACT [] synonym: "recurrent major depression" EXACT [] synonym: "single major depressive episode" EXACT [] synonym: "unipolar depression" EXACT [] xref: EFO:0003761 xref: ICD10CM:F32 xref: ICD10CM:F33.9 xref: ICD9CM:296.2 xref: ICD9CM:296.3 xref: MIM:608520 xref: MIM:608691 xref: NCI:C34796 xref: SNOMEDCT_US_2023_03_01:268621008 xref: SNOMEDCT_US_2023_03_01:36923009 xref: UMLS_CUI:C0024517 xref: UMLS_CUI:C0154409 is_a: DOID:1596 ! depressive disorder [Term] id: DOID:14701 name: propionic acidemia alt_id: DOID:14706 def: "An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy." [url:http\://en.wikipedia.org/wiki/Propionic_acidemia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "GLYCINEMIA, KETOTIC" EXACT [] synonym: "ketotic glycinemia" EXACT [] synonym: "KETOTIC HYPERGLYCINEMIA" EXACT [] synonym: "ketotic II glycinemia" EXACT [] synonym: "propionic aciduria" EXACT [] synonym: "propionyl-CoA carboxylase deficiency" EXACT [] xref: GARD:467 xref: ICD10CM:E71.121 xref: MESH:D056693 xref: MIM:606054 xref: NCI:C85030 xref: SNOMEDCT_US_2023_03_01:69080001 xref: UMLS_CUI:C0268579 xref: UMLS_CUI:C2717876 is_a: DOID:0060159 ! organic acidemia [Term] id: DOID:14702 name: branchiootorenal syndrome def: "A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities." [url:https\://www.ncbi.nlm.nih.gov/pubmed/263442] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Branchio-Oto-renal syndrome" EXACT [] synonym: "Branchio-otorenal dysplasia" EXACT [] synonym: "branchiootorenal dysplasia" EXACT [] synonym: "Melnick-Fraser syndrome" EXACT [] xref: GARD:10147 xref: MEDDRA:10071135 xref: MESH:D019280 xref: NCI:C98983 xref: SNOMEDCT_US_2023_03_01:290006 xref: UMLS_CUI:C0265234 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:14705 name: Pfeiffer syndrome def: "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." [url:http\://en.wikipedia.org/wiki/Pfeiffer_syndrome, url:http\://ghr.nlm.nih.gov/condition/pfeiffer-syndrome, url:http\://www.healthline.com/galecontent/pfeiffer-syndrome, url:https\://www.faces-cranio.org/pfeiffer] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "acrocephalosyndactylia type V" EXACT [] xref: GARD:7380 xref: MESH:D000168 xref: MIM:101600 xref: NCI:C99100 xref: ORDO:710 xref: SNOMEDCT_US_2023_03_01:70410008 xref: UMLS_CUI:C0220658 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12960 ! acrocephalosyndactylia [Term] id: DOID:14711 name: FG syndrome def: "A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern." [url:http\://en.wikipedia.org/wiki/FG_syndrome, url:http\://ghr.nlm.nih.gov/condition/fg-syndrome, url:http\://rarediseases.info.nih.gov/gard/2317/fg-syndrome/resources/1] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Keller syndrome" EXACT [] synonym: "Opitz-Kaveggia syndrome" EXACT [] xref: GARD:2317 xref: MESH:C537923 xref: MIM:300321 xref: MIM:300406 xref: MIM:300422 xref: MIM:300581 xref: MIM:305450 xref: ORDO:323 xref: ORDO:93932 xref: SNOMEDCT_US_2023_03_01:49984004 xref: UMLS_CUI:C0220769 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:14717 name: centronuclear myopathy def: "A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery." [url:http\://en.wikipedia.org/wiki/Centronuclear_myopathy, url:http\://ghr.nlm.nih.gov/condition/centronuclear-myopathy] comment: Xref MGI. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "myotubular myopathy" EXACT [] xref: GARD:101 xref: ICD10CM:G71.22 xref: MESH:D020914 xref: NCI:C84648 xref: ORDO:595 xref: ORDO:596 xref: ORDO:69186 xref: ORDO:69189 xref: SNOMEDCT_US_2023_03_01:193223007 xref: UMLS_CUI:C0175709 is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:14720 name: Ehlers-Danlos syndrome classic type 1 def: "An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34." [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/] comment: OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus synonym: "Ehlers-Danlos syndrome, type 1" EXACT [] synonym: "type I Ehlers-Danlos syndrome" EXACT [] xref: MESH:C536194 xref: MIM:130000 xref: NCI:C125696 xref: SNOMEDCT_US_2023_03_01:83470009 xref: UMLS_CUI:C0268335 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:14723 name: beta-ketothiolase deficiency def: "An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones." [url:https\://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency#statistics] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "2-methyl-3-hydroxybutyricacidemia" EXACT [] synonym: "3-ketothiolase deficiency" EXACT [] synonym: "3-oxothiolase deficiency" EXACT [] synonym: "alpha-methylacetoaceticaciduria" EXACT [] synonym: "Mitochondrial acetoacetyl-CoA Thiolase deficiency" EXACT [] synonym: "peroxisomal thiolase deficiency" EXACT [] xref: GARD:872 xref: MESH:C535818 xref: MIM:203750 xref: ORDO:134 xref: SNOMEDCT_US_2023_03_01:238067002 xref: UMLS_CUI:C1533628 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:14725 name: autosomal dominant microcephaly def: "A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3236353] comment: OMIM mapping confirmed by DO. [SN]. xref: MESH:C537323 xref: MIM:156580 xref: UMLS_CUI:C0220693 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10907 ! microcephaly [Term] id: DOID:14727 name: obsolete dominant cogenital severe sensorineural deafness is_obsolete: true [Term] id: DOID:14731 name: Weaver syndrome def: "A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36." [url:https\://ghr.nlm.nih.gov/condition/weaver-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/30793471] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim synonym: "WEAVER-LIKE SYNDROME" EXACT [] synonym: "Weaver-Williams syndrome" EXACT [] xref: GARD:5545 xref: GARD:7878 xref: MESH:C562443 xref: MIM:277590 xref: UMLS_CUI:C0220765 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:14735 name: hereditary angioedema def: "An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes." [url:https\://medlineplus.gov/genetics/condition/hereditary-angioedema/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "HANE" EXACT OMO:0003012 [] synonym: "Hereditary angioneurotic edema" EXACT [] xref: GARD:5979 xref: MESH:D054179 xref: MIM:PS106100 xref: NCI:C84758 xref: ORDO:91378 xref: SNOMEDCT_US_2023_03_01:82966003 xref: UMLS_CUI:C0019243 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1558 ! angioedema property_value: exactMatch "MESH:D054179" xsd:string property_value: exactMatch "MIM:PS106100" xsd:string property_value: exactMatch "ORDO:91378" xsd:string [Term] id: DOID:14737 name: craniofrontonasal syndrome def: "A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton." [url:https\://www.omim.org/entry/304110, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1520] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "CFND" EXACT OMO:0003012 [] synonym: "CFNS" EXACT OMO:0003012 [] synonym: "craniofrontonasal dysostosis" EXACT [] synonym: "craniofrontonasal dysplasia" EXACT [] xref: GARD:1578 xref: MESH:C536456 xref: MIM:304110 xref: ORDO:1520 xref: SNOMEDCT_US_2023_03_01:715421009 xref: UMLS_CUI:C0220767 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:14739 name: obsolete progressive high-tone neural deafness is_obsolete: true [Term] id: DOID:1474 name: aggressive periodontitis def: "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium." [url:http\://en.wikipedia.org/wiki/Aggressive_periodontitis] comment: OMIM mapping confirmed by DO. [SN]. synonym: "juvenile periodontitis" EXACT [] xref: ICD10CM:K05.2 xref: MESH:D010520 xref: MIM:170650 xref: MIM:608526 xref: SNOMEDCT_US_2023_03_01:449908004 xref: UMLS_CUI:C0031106 is_a: DOID:824 ! periodontitis property_value: exactMatch "MESH:D010520" xsd:string [Term] id: DOID:14743 name: trichorhinophalangeal syndrome type I alt_id: DOID:0050552 def: "A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly)." [url:http\://rarediseases.info.nih.gov/gard/7802/trichorhinophalangeal-syndrome-type-3/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77258, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/732/viewAbstract] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Trichorhinophalangeal dysplasia type I" RELATED [] synonym: "trichorhinophalangeal syndrome type 1" EXACT [] synonym: "type I trichorhinophalangeal syndrome" EXACT [] xref: MESH:C536820 xref: MIM:190350 xref: NCI:C75109 xref: ORDO:77258 xref: SNOMEDCT_US_2023_03_01:239016009 xref: UMLS_CUI:C0432233 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:14744 name: Partington syndrome def: "A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria." [url:http\://ghr.nlm.nih.gov/condition/partington-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/23622180] comment: OMIM mapping confirmed by DO. [SN].\nOMIM mapping submitted by NeuroDevNet. [LS]. subset: DO_rare_slim synonym: "X-linked Russell-Silver syndrome" EXACT [] xref: GARD:4235 xref: MESH:C562446 xref: MIM:309510 xref: ORDO:94083 xref: UMLS_CUI:C0220775 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:14748 name: Sotos syndrome def: "A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life." [url:http\://en.wikipedia.org/wiki/Cerebral_gigantism, url:https\://research.nhgri.nih.gov/atlas/condition/sotos-syndrome] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "cerebral gigantism" EXACT [] xref: GARD:10091 xref: ICD10CM:Q87.3 xref: MESH:D058495 xref: MIM:PS117550 xref: NCI:C75019 xref: ORDO:821 xref: SNOMEDCT_US_2023_03_01:75968004 xref: UMLS_CUI:C0175695 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome [Term] id: DOID:14749 name: methylmalonic acidemia alt_id: DOID:14782 alt_id: DOID:14802 def: "An organic acidemia that involves an accumulation of methylmalonic acid in the blood." [url:http\://ghr.nlm.nih.gov/condition/methylmalonic-acidemia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "methylmalonic aciduria" EXACT [] xref: GARD:7033 xref: MESH:C537358 is_a: DOID:0060159 ! organic acidemia [Term] id: DOID:1475 name: lymphangioma def: "A benign vascular tumor that is composed of dilated lymphatic channels." [url:https\://en.wikipedia.org/wiki/Lymphangioma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "benign lymphangioma" EXACT [] synonym: "Congenital lymphangioma" EXACT [] xref: GARD:9789 xref: ICD10CM:D18.1 xref: ICD9CM:228.1 xref: ICDO:9170/0 xref: MESH:D008202 xref: NCI:C8965 xref: SNOMEDCT_US_2023_03_01:154625006 xref: UMLS_CUI:C0024221 is_a: DOID:60006 ! benign vascular tumor [Term] id: DOID:14753 name: isovaleric acidemia def: "An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine." [url:http\://en.wikipedia.org/wiki/Isovaleric_acidemia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "isovaleric acid CoA dehydrogenase deficiency" EXACT [] synonym: "isovaleric aciduria" EXACT [] synonym: "Isovaleryl-CoA dehydrogenase deficiency" EXACT [] xref: GARD:465 xref: ICD10CM:E71.110 xref: MESH:C538167 xref: MIM:243500 xref: NCI:C98964 xref: SNOMEDCT_US_2023_03_01:87827003 xref: UMLS_CUI:C0268575 is_a: DOID:0060159 ! organic acidemia [Term] id: DOID:14755 name: argininosuccinic aciduria def: "An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine." [url:http\://en.wikipedia.org/wiki/Argininosuccinic_aciduria] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Argininosuccinate lyase deficiency" EXACT [] synonym: "argininosuccinic acidemia" EXACT [] synonym: "arginosuccinase deficiency" EXACT [] synonym: "deficiency of argininosuccinate lyase" EXACT [] xref: GARD:5843 xref: MESH:D056807 xref: MIM:207900 xref: NCI:C84569 xref: SNOMEDCT_US_2023_03_01:41013004 xref: UMLS_CUI:C0268547 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:14756 name: vascular type Ehlers-Danlos syndrome def: "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits." [url:https\://pubmed.ncbi.nlm.nih.gov/21637106/] subset: DO_rare_slim subset: NCIthesaurus synonym: "autosomal dominant type IV Ehlers-Danlos syndrome" EXACT [] xref: GARD:2082 xref: MIM:130050 xref: NCI:C125699 xref: ORDO:286 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:14757 name: Ehlers-Danlos syndrome hypermobility type def: "An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity." [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Ehlers-Danlos syndrome, type 3" EXACT [] synonym: "type III Ehlers-Danlos syndrome" EXACT [] xref: GARD:2081 xref: ICD10CM:Q79.62 xref: MESH:C536196 xref: MIM:130020 xref: NCI:C125698 xref: SNOMEDCT_US_2023_03_01:30652003 xref: UMLS_CUI:C0268337 is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:14759 name: autosomal recessive type IV Ehlers-Danlos syndrome def: "An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits." [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/] synonym: "Ehlers-Danlos syndrome, recessive type 4" EXACT [] xref: SNOMEDCT_US_2023_03_01:70610001 xref: UMLS_CUI:C0268340 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:14761 name: Greig cephalopolysyndactyly syndrome alt_id: DOID:9251 def: "An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face." [url:http\://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome, url:http\://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6550] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "polysyndactyly with peculiars skull shape" EXACT [] xref: GARD:6550 xref: MESH:C537300 xref: MIM:175700 xref: NCI:C35255 xref: SNOMEDCT_US_2023_03_01:32985001 xref: UMLS_CUI:C0265306 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12960 ! acrocephalosyndactylia [Term] id: DOID:14762 name: calcaneonavicular coalition def: "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet." [url:http\://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome] comment: OMIM mapping confirmed by DO. [LS]. synonym: "Multiple synostosis syndrome" EXACT [] synonym: "SYNOSTOSES, TARSAL, CARPAL AND DIGITAL" EXACT [] xref: MIM:186400 xref: SNOMEDCT_US_2023_03_01:62628008 xref: UMLS_CUI:C0175700 is_a: DOID:11971 ! synostosis [Term] id: DOID:14764 name: Larsen syndrome def: "A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities." [url:http\://en.wikipedia.org/wiki/Larsen_syndrome, url:https\://ghr.nlm.nih.gov/condition/larsen-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "dominant larsen syndrome" EXACT [] xref: GARD:6860 xref: MESH:C580241 xref: MIM:150250 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:14766 name: renal agenesis def: "A renal disease that is characterized by the failure of one or both kidneys to develop." [url:https\://en.wikipedia.org/wiki/Renal_agenesis] subset: DO_rare_slim synonym: "hereditary renal aplasia" EXACT [] synonym: "hereditary urogenital adysplasia" EXACT [] synonym: "renal adysplasia" EXACT [] synonym: "renal aplasia" EXACT [] xref: GARD:9228 xref: MESH:C563261 xref: MIM:191830 xref: ORDO:93108 is_a: DOID:557 ! kidney disease [Term] id: DOID:14768 name: Saethre-Chotzen syndrome def: "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." [url:http\://children.webmd.com/saethre-chotzen-syndrome, url:http\://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome, url:http\://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome, url:http\://www.healthline.com/galecontent/saethre-chotzen-syndrome, url:https\://www.faces-cranio.org/saethre-chotzen] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "acrocephalosyndactyly type III" RELATED [] xref: GARD:7598 xref: MESH:D000168 xref: MIM:101400 xref: MIM:180750 xref: NCI:C75034 xref: ORDO:794 xref: SNOMEDCT_US_2023_03_01:390726000 xref: UMLS_CUI:C0175699 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12960 ! acrocephalosyndactylia [Term] id: DOID:14773 name: cartilage-hair hypoplasia alt_id: DOID:0080022 def: "An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3." [url:https\://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/11207361] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "CHH" EXACT OMO:0003012 [] synonym: "McKusick type metaphyseal chondrodysplasia" EXACT [] synonym: "Metaphyseal chondrodysplasia, McKusick type" EXACT [] xref: MESH:C535916 xref: MIM:250250 xref: NCI:C61245 xref: SNOMEDCT_US_2023_03_01:234421004 xref: UMLS_CUI:C0220748 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:14775 name: brittle cornea syndrome 1 def: "An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24." [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "type VIB Ehlers-Danlos syndrome" EXACT [] xref: GARD:1019 xref: MESH:C536198 xref: MIM:229200 xref: NCI:C125700 xref: SNOMEDCT_US_2023_03_01:25606004 xref: UMLS_CUI:C0268342 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10124 ! corneal disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:14777 name: benign familial neonatal epilepsy subset: DO_rare_slim synonym: "familial neonatal seizures" EXACT [] xref: GARD:2159 xref: MESH:D020936 xref: ORDO:1949 xref: SNOMEDCT_US_2023_03_01:279953009 xref: UMLS_CUI:C0220669 is_a: DOID:0050702 ! neonatal period electroclinical syndrome [Term] id: DOID:14778 name: blepharophimosis, ptosis, and epicanthus inversus syndrome def: "A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the FOXL2 gene on chromosome 3q22.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11175783] comment: OMIM mapping confirmed by DO. [SN]. synonym: "Blepharophimosis, ptosis, epicanthus inversus syndrome" RELATED [] xref: MESH:C562419 xref: MIM:110100 xref: SNOMEDCT_US_2023_03_01:79833006 xref: UMLS_CUI:C0220663 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome [Term] id: DOID:14780 name: KBG syndrome def: "A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton." [url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=KBG%20Syndrome, url:https\://www.kbgfoundation.com/home.html] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:82 xref: MESH:C537015 xref: MIM:148050 xref: ORDO:2332 xref: SNOMEDCT_US_2023_03_01:711156009 xref: UMLS_CUI:C0220687 is_a: DOID:0060564 ! spinal disease is_a: DOID:225 ! syndrome [Term] id: DOID:14784 name: olivopontocerebellar atrophy alt_id: DOID:12708 def: "A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives." [url:http\://www.ninds.nih.gov/disorders/opca/opca.htm] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "Dejerine-Thomas syndrome" EXACT [] synonym: "Thomas' syndrome" EXACT [] synonym: "WADIA-SWAMI SYNDROME" EXACT [] xref: MESH:D009849 xref: NCI:C84947 xref: SNOMEDCT_US_2023_03_01:67761004 xref: UMLS_CUI:C0028968 is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:14787 name: obsolete Fryns syndrome comment: OMIM mapping confirmed by DO. [SN]. is_obsolete: true [Term] id: DOID:14789 name: spondyloepiphyseal dysplasia congenita alt_id: DOID:0080025 def: "A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11." [url:https\://pubmed.ncbi.nlm.nih.gov/1971141/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Late Spondyloepiphyseal Dysplasia" EXACT [] xref: GARD:4987 xref: MESH:C535788 xref: MIM:183900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia [Term] id: DOID:14791 name: Leber congenital amaurosis def: "A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness." [url:http\://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "LCA" EXACT OMO:0003012 [] synonym: "Leber's amaurosis" EXACT [] synonym: "Leber's congenital amaurosis" EXACT [] synonym: "Leber's disease" EXACT [] xref: GARD:634 xref: MESH:D057130 xref: MIM:PS204000 xref: NCI:C129075 xref: ORDO:65 xref: SNOMEDCT_US_2023_03_01:193413001 xref: UMLS_CUI:C0339527 is_a: DOID:0080015 ! physical disorder is_a: DOID:5679 ! retinal disease [Term] id: DOID:14793 name: hypohidrotic ectodermal dysplasia alt_id: DOID:0050446 alt_id: DOID:0050447 def: "An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth)." [url:http\://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1112/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:76 xref: MESH:D053358 xref: NCI:C84562 xref: ORDO:238468 xref: SNOMEDCT_US_2023_03_01:239007005 xref: UMLS_CUI:C0162359 is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:14796 name: Dubowitz syndrome def: "A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids." [url:http\://en.wikipedia.org/wiki/Dubowitz_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Dubowitz's syndrome" EXACT [] xref: GARD:6290 xref: ICD10CM:Q87.19 xref: MEDDRA:10059589 xref: MESH:C535718 xref: MIM:223370 xref: NCI:C125591 xref: SNOMEDCT_US_2023_03_01:2593002 xref: UMLS_CUI:C0175691 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:14798 name: Blount's disease def: "An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally." [url:http\://en.wikipedia.org/wiki/Blount%27s_disease, url:http\://www.e-radiography.net/radpath/b/blountsdisease.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001584.htm, url:http\://www.wheelessonline.com/ortho/blounts_disease] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Blount disease" EXACT [] synonym: "familial infantile type osteochondrosis deformans tibiae" EXACT [] xref: GARD:916 xref: MIM:188700 xref: MIM:259200 xref: SNOMEDCT_US_2023_03_01:880067009 xref: UMLS_CUI:C0220757 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:1483 name: gingival disease def: "A periodontal disease that is located_in the gums." [url:https\://www.nidcr.nih.gov/health-info/gum-disease/more-info] subset: NCIthesaurus synonym: "gum disease" EXACT [] xref: MESH:D005882 xref: NCI:C173795 xref: SNOMEDCT_US_2023_03_01:18718003 xref: UMLS_CUI:C0017563 is_a: DOID:3388 ! periodontal disease [Term] id: DOID:1485 name: cystic fibrosis alt_id: DOID:12447 alt_id: DOID:13383 alt_id: DOID:14395 alt_id: DOID:1484 def: "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs." [url:http\://en.wikipedia.org/wiki/Cystic_fibrosis, url:http\://ghr.nlm.nih.gov/condition/cystic-fibrosis, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/cf/, url:https\://www.genome.gov/Genetic-Disorders/Cystic-Fibrosis] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "CF" EXACT OMO:0003012 [] synonym: "mucoviscidosis" EXACT [] xref: GARD:6233 xref: ICD10CM:E84 xref: ICD9CM:277.0 xref: MESH:D003550 xref: MIM:219700 xref: NCI:C2975 xref: ORDO:586 xref: SNOMEDCT_US_2023_03_01:85809002 xref: UMLS_CUI:C0010674 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:D003550" xsd:string [Term] id: DOID:1486 name: obsolete secondary syphilitic chorioretinitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "secondary syphilitic chorioretinitis (disorder)" EXACT [] synonym: "Syphilitic chorioretinitis (secondary)" EXACT [] is_obsolete: true [Term] id: DOID:1487 name: obsolete secondary syphilitic uveitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "secondary syphilitic uveitis (disorder)" EXACT [] synonym: "secondary syphilitic uveitis NOS (disorder)" EXACT [] synonym: "Syphilitic uveitis unspecified (disorder)" EXACT [] synonym: "Syphilitic uveitis, unspecified" EXACT [] synonym: "Uveitis due to secondary syphilis" EXACT [] synonym: "Uveitis due to secondary syphilis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1491 name: obsolete corneal anesthesia and hypoesthesia is_obsolete: true [Term] id: DOID:1492 name: obsolete eye and adnexa disease def: "A sensory system disease that is located_in the eye or the adnexa of the eye." [url:http\://en.wikipedia.org/wiki/Category\:Diseases_of_the_eye_and_adnexa] xref: ICD10CM:H35.00 xref: ICD9CM:362.10 xref: UMLS_CUI:C0004608 is_obsolete: true [Term] id: DOID:1495 name: cystic echinococcosis alt_id: DOID:13256 alt_id: DOID:13708 alt_id: DOID:14154 alt_id: DOID:1493 def: "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected." [url:http\://www.who.int/mediacentre/factsheets/fs377/en/] subset: DO_infectious_disease_slim synonym: "echinococcus granulosus" EXACT [] synonym: "Echinococcus granulosus infection" EXACT [] synonym: "Echinococcus granulosus infection of lung" EXACT [] synonym: "Echinococcus granulosus infection of thyroid" EXACT [] synonym: "echinococcus granulosus infectious disease" EXACT [] synonym: "echinococcus granulosus infectious disease of liver" EXACT [] synonym: "echinococcus granulosus infectious disease of thyroid" EXACT [] synonym: "Liver echinococcus granulosus" EXACT [] synonym: "lung echinococcus granulosus" EXACT [] synonym: "Thyroid echinococcus granulosus" EXACT [] synonym: "unilocular echinococcosis" EXACT [] synonym: "unilocular hydatid disease" EXACT [] xref: ICD10CM:B67.4 xref: ICD9CM:122.4 xref: SNOMEDCT_US_2023_03_01:75006000 xref: UMLS_CUI:C0152068 is_a: DOID:0080001 ! bone disease is_a: DOID:114 ! heart disease is_a: DOID:1496 ! echinococcosis is_a: DOID:409 ! liver disease is_a: DOID:850 ! lung disease is_a: DOID:936 ! brain disease [Term] id: DOID:1496 name: echinococcosis alt_id: DOID:12149 alt_id: DOID:2783 def: "A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys." [url:http\://en.wikipedia.org/wiki/Echinococcosis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=echinococcosis] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "echinococcal disease" EXACT [] synonym: "Echinococcosis of liver" EXACT [] synonym: "hepatic echinococcosis" EXACT [] synonym: "hydatid disease" EXACT [] synonym: "hydatidosis" EXACT [] synonym: "liver echinococcus" EXACT [] synonym: "pulmonary echinococcosis" EXACT [] xref: ICD10CM:B67 xref: ICD9CM:122 xref: MESH:D004443 xref: NCI:C84682 xref: SNOMEDCT_US_2023_03_01:154414008 xref: UMLS_CUI:C0013502 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:1498 name: cholera def: "A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock." [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/#what, url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html] subset: DO_FlyBase_slim subset: DO_infectious_disease_slim subset: DO_rare_slim subset: GOLD subset: gram-negative_bacterial_infectious_disease synonym: "Cholera - Vibrio cholerae" EXACT [] synonym: "Cholera due to Vibrio cholerae" EXACT [] synonym: "Vibrio cholerae" EXACT [] xref: GARD:6043 xref: ICD10CM:A00 xref: ICD9CM:001 xref: MESH:D002771 xref: SNOMEDCT_US_2023_03_01:186087007 xref: UMLS_CUI:C0008354 is_a: DOID:0050338 ! primary bacterial infectious disease property_value: exactMatch "MESH:D002771" xsd:string [Term] id: DOID:1499 name: obsolete Vibrio infectious disease subset: gram-negative_bacterial_infectious_disease synonym: "Infection due to non-cholerae vibrio" EXACT [] synonym: "vibriosis" EXACT [] is_obsolete: true [Term] id: DOID:15 name: reproductive system disease alt_id: DOID:6309 def: "A disease of anatomical entity that is located_in reproductive system organs." [url:http\://en.wikipedia.org/wiki/Reproductive_system] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim subset: NCIthesaurus synonym: "genital system disease" EXACT [] xref: NCI:C27613 xref: UMLS_CUI:C1335037 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:150 name: disease of mental health def: "A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture." [url:http\://en.wikipedia.org/wiki/Mental_disorder] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim subset: DO_RAD_slim subset: NCIthesaurus xref: ICD10CM:F99 xref: MESH:D001523 xref: NCI:C2893 xref: SNOMEDCT_US_2023_03_01:74732009 xref: UMLS_CUI:C0004936 is_a: DOID:4 ! disease [Term] id: DOID:1508 name: candidiasis alt_id: DOID:1507 def: "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons." [url:http\://en.wikipedia.org/wiki/Candidiasis, url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Disseminated candidiasis" EXACT [] synonym: "systemic candidiasis" EXACT [] xref: ICD10CM:B37 xref: ICD9CM:112 xref: MESH:D002177 xref: NCI:C26711 xref: SNOMEDCT_US_2023_03_01:154403005 xref: UMLS_CUI:C0006840 is_a: DOID:2473 ! opportunistic mycosis [Term] id: DOID:1509 name: avoidant personality disorder def: "A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction." [url:http\://en.wikipedia.org/wiki/Avoidant_personality_disorder] subset: NCIthesaurus synonym: "anxious personality disorder" EXACT [] xref: ICD10CM:F60.6 xref: ICD9CM:301.82 xref: MESH:D010554 xref: NCI:C92636 xref: SNOMEDCT_US_2023_03_01:191771004 xref: UMLS_CUI:C0004444 is_a: DOID:1510 ! personality disorder [Term] id: DOID:1510 name: personality disorder def: "A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work." [url:http\://www.nlm.nih.gov/medlineplus/personalitydisorders.html] subset: DO_RAD_slim synonym: "character disorder" EXACT [] xref: ICD9CM:301.8 xref: SNOMEDCT_US_2023_03_01:191770003 xref: UMLS_CUI:C0029707 is_a: DOID:150 ! disease of mental health [Term] id: DOID:1511 name: obsolete residual schizophrenia chronic state with acute exacerbation is_obsolete: true [Term] id: DOID:1512 name: chronic gonorrhea of cervix def: "A chronic cervicitis that is caused by gonorrhea." [url:https\://en.wikipedia.org/wiki/Gonorrhea] synonym: "chronic gonococcal cervicitis" EXACT [] synonym: "Gonococcal cervicitis, chronic" EXACT [] xref: ICD9CM:098.35 xref: SNOMEDCT_US_2023_03_01:76802005 xref: UMLS_CUI:C0153206 is_a: DOID:1513 ! chronic cervicitis [Term] id: DOID:1513 name: chronic cervicitis def: "A cervicitis that is present for weeks or more." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27243142] subset: NCIthesaurus xref: NCI:C27057 xref: SNOMEDCT_US_2023_03_01:198210003 xref: UMLS_CUI:C0269062 is_a: DOID:2568 ! cervicitis [Term] id: DOID:1515 name: obsolete mitral valve syphilitic endocarditis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilitic endocarditis of mitral valve (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1516 name: obsolete syphilitic endocarditis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilitic endocarditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1517 name: cecal benign neoplasm def: "An intestinal benign neoplasm that is located_in the cecum." [url:http\://en.wikipedia.org/wiki/Cecum] subset: NCIthesaurus synonym: "cecum neoplasm" EXACT [] synonym: "neoplasm of caecum" EXACT [] xref: MESH:D002430 xref: NCI:C4433 xref: SNOMEDCT_US_2023_03_01:126839008 xref: UMLS_CUI:C0007528 is_a: DOID:1518 ! cecal disease is_a: DOID:4610 ! intestinal benign neoplasm [Term] id: DOID:1518 name: cecal disease def: "An intestinal disease located_in the cecum." [url:https\://en.wikipedia.org/wiki/Cecum] synonym: "disorder of cecum" EXACT [] xref: MESH:D002429 xref: SNOMEDCT_US_2023_03_01:128525008 xref: UMLS_CUI:C0007527 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:1519 name: cecum carcinoma def: "A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: NCIthesaurus synonym: "Caecum carcinoma" EXACT [] synonym: "carcinoma of cecum" EXACT [] synonym: "Cecal cancer" EXACT [] xref: NCI:C3491 xref: SNOMEDCT_US_2023_03_01:269538009 xref: UMLS_CUI:C0149640 is_a: DOID:1521 ! cecum cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:1520 name: colon carcinoma def: "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: NCIthesaurus synonym: "carcinoma of colon" EXACT [] synonym: "Colonic carcinoma" EXACT [] xref: NCI:C4910 xref: SNOMEDCT_US_2023_03_01:154454005 xref: UMLS_CUI:C0699790 is_a: DOID:219 ! colon cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:1521 name: cecum cancer def: "A large intestine cancer that is located_in the cecum." [url:http\://en.wikipedia.org/wiki/Cecum] subset: NCIthesaurus synonym: "malignant neoplasm of caecum" EXACT [] synonym: "malignant tumor of the cecum" EXACT [] xref: ICD10CM:C18.0 xref: ICD9CM:153.4 xref: MESH:D002430 xref: NCI:C9329 xref: SNOMEDCT_US_2023_03_01:93736007 xref: UMLS_CUI:C0153437 is_a: DOID:1518 ! cecal disease is_a: DOID:5672 ! large intestine cancer [Term] id: DOID:1522 name: cecum lymphoma subset: NCIthesaurus synonym: "Cecal Lymphoma" EXACT [] xref: NCI:C5515 xref: UMLS_CUI:C1332867 is_a: DOID:0060058 ! lymphoma is_a: DOID:1521 ! cecum cancer [Term] id: DOID:1523 name: colon lymphoma subset: NCIthesaurus synonym: "Colonic Lymphoma" EXACT [] xref: NCI:C4793 xref: SNOMEDCT_US_2023_03_01:133751000119102 xref: UMLS_CUI:C0519037 is_a: DOID:0060058 ! lymphoma is_a: DOID:219 ! colon cancer [Term] id: DOID:1525 name: nodular nonsuppurative panniculitis synonym: "nodular non-suppurative febrile panniculitis" EXACT [] synonym: "Relapsing febrile nodular nonsuppurative panniculitis" EXACT [] synonym: "Weber - Christian disease" EXACT [] synonym: "Weber-Christian disease" EXACT [] xref: ICD10CM:M35.6 xref: MESH:D010201 xref: SNOMEDCT_US_2023_03_01:203120002 xref: UMLS_CUI:C0030328 is_a: DOID:1526 ! panniculitis [Term] id: DOID:1526 name: panniculitis def: "A skin disease that is characterized by inflammation of subcutaneous adipose tissue." [url:https\://en.wikipedia.org/wiki/Panniculitis] subset: NCIthesaurus xref: ICD10CM:M79.3 xref: ICD9CM:729.30 xref: MESH:D015434 xref: NCI:C112112 xref: SNOMEDCT_US_2023_03_01:268122002 xref: UMLS_CUI:C0030326 is_a: DOID:37 ! skin disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:1528 name: obsolete penile non-neoplastic disease is_obsolete: true [Term] id: DOID:1529 name: penile disease xref: ICD10CM:N48.8 xref: ICD9CM:607.8 xref: SNOMEDCT_US_2023_03_01:198558008 xref: UMLS_CUI:C0029785 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:153 name: obsolete fibroepithelial neoplasm def: "A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue." [url:http\://en.wikipedia.org/wiki/Fibroepithelial_neoplasm] synonym: "Fibroepithelial neoplasm (morphologic abnormality)" EXACT [] synonym: "Fibroepithelial neoplasm NOS (morphologic abnormality)" EXACT [] synonym: "Fibroepithelial tumor" EXACT [] synonym: "Fibroepithelial tumor (qualifier value)" EXACT [] is_obsolete: true [Term] id: DOID:1530 name: obsolete male non-neoplastic reproductive system disease is_obsolete: true [Term] id: DOID:1532 name: pleural disease alt_id: DOID:1531 def: "A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism." [url:http\://en.wikipedia.org/wiki/Pleural_disease] subset: DO_RAD_slim subset: NCIthesaurus synonym: "disorder of pleura" EXACT [] synonym: "non-neoplastic pleural disease" EXACT [] xref: MESH:D010995 xref: NCI:C26859 xref: SNOMEDCT_US_2023_03_01:88075009 xref: UMLS_CUI:C0032226 is_a: DOID:0050161 ! lower respiratory tract disease [Term] id: DOID:154 name: mixed cell type cancer alt_id: DOID:1905 def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue." [url:http\://medical-dictionary.thefreedictionary.com/mixed+neoplasm] subset: NCIthesaurus synonym: "malignant mixed cancer" EXACT [] synonym: "malignant mixed neoplasm" EXACT [] synonym: "malignant mixed tumor" RELATED [] synonym: "mixed neoplasm" RELATED [] synonym: "mixed tumor" EXACT [] synonym: "mixed tumor, malignant" EXACT [] xref: MESH:D018198 xref: NCI:C3729 xref: NCI:C6930 xref: SNOMEDCT_US_2023_03_01:8145008 xref: UMLS_CUI:C0206625 xref: UMLS_CUI:C1368354 is_a: DOID:0050687 ! cell type cancer [Term] id: DOID:1540 name: parathyroid carcinoma alt_id: DOID:11006 alt_id: DOID:1541 def: "An endocrine gland cancer located_in the parathyroid glands located in the neck." [url:http\://en.wikipedia.org/wiki/Parathyroid_gland] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "carcinoma of Parathyroid gland" EXACT [] synonym: "malignant neoplasm of parathyroid gland" EXACT [] synonym: "malignant neoplasm of the Parathyroid" EXACT [] synonym: "malignant tumor of parathyroid gland" EXACT [] synonym: "neoplasm of parathyroid gland" EXACT [] synonym: "parathyroid gland adenocarcinoma" RELATED [] synonym: "parathyroid gland cancer" EXACT [] synonym: "Parathyroid gland neoplasm" EXACT [] synonym: "parathyroid neoplasm" EXACT [] xref: GARD:7329 xref: ICD10CM:C75.0 xref: ICD9CM:194.1 xref: MESH:D010282 xref: MIM:608266 xref: NCI:C3313 xref: NCI:C4906 xref: NCI:C9322 xref: SNOMEDCT_US_2023_03_01:127020005 xref: SNOMEDCT_US_2023_03_01:255037004 xref: SNOMEDCT_US_2023_03_01:363481002 xref: UMLS_CUI:C0030521 xref: UMLS_CUI:C0153653 xref: UMLS_CUI:C0687150 is_a: DOID:11201 ! parathyroid gland disease is_a: DOID:170 ! endocrine gland cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:1542 name: head and neck carcinoma def: "A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx." [url:http\://en.wikipedia.org/wiki/Head_and_neck_cancer, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.09e&code=C35850&ns=NCI_Thesaurus&key=153772862&b=1&n=null, url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck] subset: DO_cancer_slim subset: NCIthesaurus synonym: "carcinoma of neck" RELATED [] synonym: "carcinoma of the neck" EXACT [] xref: NCI:C6077 xref: UMLS_CUI:C1334927 is_a: DOID:11934 ! head and neck cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:1543 name: obsolete metastatic neoplasm of parathyroid synonym: "metastatic tumor of Parathyroid" EXACT [] is_obsolete: true [Term] id: DOID:155 name: obsolete glandular and epithelial neoplasm is_obsolete: true [Term] id: DOID:1550 name: obsolete gestational diabetes complicating pregnancy, childbirth, or the puerperium alt_id: DOID:1549 synonym: "Diabetes mellitus in the pueperium - baby delivered during previous episode of care (disorder)" EXACT [] synonym: "Diabetes mellitus, postpartum" EXACT [] is_obsolete: true [Term] id: DOID:1554 name: vibratory urticaria def: "A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the ADGRE2 gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/26841242/] subset: DO_rare_slim xref: GARD:9806 xref: ICD10CM:L50.4 xref: ICD9CM:708.4 xref: MESH:D000094482 xref: MIM:125630 xref: SNOMEDCT_US_2023_03_01:51247001 xref: UMLS_CUI:C0157743 is_a: DOID:0060220 ! physical urticaria [Term] id: DOID:1555 name: urticaria def: "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis." [url:http\://en.wikipedia.org/wiki/Urticaria] xref: ICD9CM:708.8 xref: SNOMEDCT_US_2023_03_01:267817001 xref: UMLS_CUI:C0029839 is_a: DOID:37 ! skin disease [Term] id: DOID:1556 name: arthus reaction def: "A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls." [url:https\://en.wikipedia.org/wiki/Arthus_reaction] subset: NCIthesaurus synonym: "Arthus phenomenon" EXACT [] synonym: "Arthus type urticaria" EXACT [] xref: ICD10CM:T78.41 xref: ICD9CM:995.21 xref: MESH:D001183 xref: NCI:C34400 xref: SNOMEDCT_US_2023_03_01:402413008 xref: UMLS_CUI:C0003907 is_a: DOID:1557 ! hypersensitivity reaction type III disease [Term] id: DOID:1557 name: hypersensitivity reaction type III disease def: "A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury." [url:https\://en.wikipedia.org/wiki/Type_III_hypersensitivity] synonym: "immune complex disease" EXACT [] xref: MESH:D007105 xref: UMLS_CUI:C0020951 is_a: DOID:0060056 ! hypersensitivity reaction disease [Term] id: DOID:1558 name: angioedema def: "A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues." [url:http\://en.wikipedia.org/wiki/Angioedema, url:https\://www.ncbi.nlm.nih.gov/books/NBK430889/] subset: NCIthesaurus synonym: "angioneurotic edema" EXACT [] synonym: "Angioneurotic oedema" EXACT [] synonym: "giant urticaria" EXACT [] synonym: "Quincke's edema" EXACT [] xref: ICD10CM:T78.3 xref: MESH:D000799 xref: NCI:C112175 xref: SNOMEDCT_US_2023_03_01:41291007 xref: UMLS_CUI:C0002994 is_a: DOID:37 ! skin disease [Term] id: DOID:1561 name: cognitive disorder def: "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving." [url:http\://en.wikipedia.org/wiki/Cognitive_disorder] subset: DO_RAD_slim subset: NCIthesaurus synonym: "cognitive disease" EXACT [] synonym: "Organic Mental disorder" RELATED [] xref: ICD10CM:F09 xref: MESH:D019965 xref: NCI:C34870 xref: SNOMEDCT_US_2023_03_01:111479008 xref: UMLS_CUI:C0029227 is_a: DOID:150 ! disease of mental health [Term] id: DOID:1562 name: chromoblastomycosis def: "A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4005] subset: DO_infectious_disease_slim subset: DO_rare_slim synonym: "Chromomycosis" EXACT [] synonym: "Mossy foot disease" EXACT [] xref: GARD:1319 xref: ICD10CM:B43.9 xref: ICD9CM:117.2 xref: MESH:D002862 xref: SNOMEDCT_US_2023_03_01:187079000 xref: UMLS_CUI:C0008582 is_a: DOID:0050135 ! subcutaneous mycosis [Term] id: DOID:1563 name: dermatomycosis def: "A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes." [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4004] subset: DO_infectious_disease_slim xref: ICD9CM:111.9 xref: MESH:D003881 xref: SNOMEDCT_US_2023_03_01:47382004 xref: UMLS_CUI:C0011630 is_a: DOID:0050134 ! cutaneous mycosis is_a: DOID:37 ! skin disease [Term] id: DOID:1564 name: fungal infectious disease def: "A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body." [url:http\://en.wikipedia.org/wiki/Mycoses] subset: DO_AGR_slim subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "mycoses" RELATED [] synonym: "mycosis" EXACT [] xref: ICD10CM:B49 xref: ICD9CM:110-118.99 xref: MESH:D009181 xref: NCI:C3245 xref: SNOMEDCT_US_2023_03_01:154393000 xref: UMLS_CUI:C0026946 is_a: DOID:0050117 ! disease by infectious agent [Term] id: DOID:1568 name: obsolete calculus of gallbladder and bile duct with acute and chronic cholecystitis alt_id: DOID:1567 synonym: "calculus of gallbladder and bile duct with acute and chronic cholecystitis, with obstruction" EXACT [] is_obsolete: true [Term] id: DOID:1569 name: mechanical ectropion xref: ICD9CM:374.12 xref: SNOMEDCT_US_2023_03_01:45020000 xref: UMLS_CUI:C0155194 is_a: DOID:1570 ! ectropion [Term] id: DOID:157 name: obsolete epithelial carcinoma alt_id: DOID:3806 def: "A carcinoma that derives_from the cells that line an organ." [url:http\://www.cancer.gov/dictionary/?CdrID=46422] synonym: "epithelial neoplasm" RELATED [] synonym: "epithelial skin tumor" EXACT [] synonym: "epithelial tumor (qualifier value)" EXACT [] synonym: "skin Epithelium tumor" EXACT [] synonym: "tumor of surface epithelium (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1570 name: ectropion synonym: "Ectropion of eyelid" EXACT [] synonym: "Everted margin" EXACT [] xref: ICD10CM:H02.1 xref: ICD9CM:374.1 xref: MESH:D004483 xref: SNOMEDCT_US_2023_03_01:155178000 xref: UMLS_CUI:C0013592 is_a: DOID:530 ! eyelid disease [Term] id: DOID:1571 name: spastic ectropion xref: ICD9CM:374.13 xref: SNOMEDCT_US_2023_03_01:80846000 xref: UMLS_CUI:C0155195 is_a: DOID:1570 ! ectropion [Term] id: DOID:1572 name: normal pressure hydrocephalus comment: OMIM mapping confirmed by DO. [SN]. synonym: "Low pressure hydrocephalus" EXACT [] xref: ICD10CM:G91.2 xref: MESH:D006850 xref: MIM:236690 xref: SNOMEDCT_US_2023_03_01:30753002 xref: UMLS_CUI:C0020258 is_a: DOID:1573 ! communicating hydrocephalus [Term] id: DOID:1573 name: communicating hydrocephalus subset: NCIthesaurus xref: ICD10CM:G91.0 xref: ICD9CM:331.3 xref: MESH:D006849 xref: NCI:C34501 xref: SNOMEDCT_US_2023_03_01:59013007 xref: UMLS_CUI:C0009451 is_a: DOID:10908 ! hydrocephalus [Term] id: DOID:1574 name: alcohol use disorder def: "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences." [url:http\://en.wikipedia.org/wiki/Alcohol_abuse, url:https\://www.niaaa.nih.gov/alcohol-health/overview-alcohol-consumption/alcohol-use-disorders] subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "alcohol abuse" EXACT [] synonym: "Ethanol abuse" EXACT [] xref: ICD10CM:F10.1 xref: ICD9CM:305.0 xref: MESH:D000437 xref: NCI:C20701 xref: SNOMEDCT_US_2023_03_01:15167005 xref: UMLS_CUI:C0085762 is_a: DOID:302 ! substance abuse [Term] id: DOID:1575 name: rheumatic disease def: "A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." [url:http\://www.niams.nih.gov/Health_Info/Scleroderma/default.asp] is_a: DOID:65 ! connective tissue disease [Term] id: DOID:1577 name: limited scleroderma synonym: "Limited cutaneous systemic sclerosis" EXACT [] synonym: "systemic sclerosis, limited" EXACT [] xref: MESH:D045745 xref: SNOMEDCT_US_2023_03_01:128459005 xref: UMLS_CUI:C0748540 is_a: DOID:418 ! systemic scleroderma [Term] id: DOID:1578 name: pulmonary systemic sclerosis synonym: "lung disease with systemic sclerosis" EXACT [] synonym: "lung involvement in systemic sclerosis" EXACT [] xref: ICD10CM:M34.81 xref: ICD9CM:517.2 xref: SNOMEDCT_US_2023_03_01:196133001 xref: UMLS_CUI:C0339904 is_a: DOID:418 ! systemic scleroderma is_a: DOID:850 ! lung disease [Term] id: DOID:1579 name: respiratory system disease alt_id: DOID:3226 def: "A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm." [url:http\://en.wikipedia.org/wiki/File\:Respiratory_system_complete_en.svg, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory%20system] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim subset: DO_RAD_slim xref: ICD10CM:J98 xref: ICD9CM:519 xref: SNOMEDCT_US_2023_03_01:155603009 xref: UMLS_CUI:C0029582 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:1580 name: diffuse scleroderma subset: NCIthesaurus synonym: "diffuse systemic sclerosis" EXACT [] synonym: "systemic sclerosis, diffuse" EXACT [] xref: MESH:D045743 xref: NCI:C116791 xref: SNOMEDCT_US_2023_03_01:128460000 xref: UMLS_CUI:C1258104 is_a: DOID:418 ! systemic scleroderma [Term] id: DOID:1583 name: laryngeal tuberculosis def: "A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." [url:http\://www.cdc.gov/mmwr/PDF/rr/rr5417.pdf, url:http\://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16749607, url:http\://www.springerlink.com/content/58281g77v7054641/fulltext.pdf] subset: NCIthesaurus xref: ICD10CM:A15.5 xref: ICD9CM:012.3 xref: MESH:D014387 xref: NCI:C26895 xref: SNOMEDCT_US_2023_03_01:70341005 xref: UMLS_CUI:C0041315 is_a: DOID:3437 ! laryngitis [Term] id: DOID:1584 name: acute chest syndrome def: "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph." [url:http\://en.wikipedia.org/wiki/Acute_chest_syndrome] subset: NCIthesaurus synonym: "acute chest syndrome in sickle cell disease" EXACT [] xref: ICD9CM:517.3 xref: MESH:D056586 xref: NCI:C138179 xref: SNOMEDCT_US_2023_03_01:372146004 xref: UMLS_CUI:C0742343 is_a: DOID:850 ! lung disease property_value: exactMatch "MESH:D056586" xsd:string [Term] id: DOID:1585 name: obsolete rheumatic pneumonia subset: gram-positive_bacterial_infectious_disease synonym: "Rheumatic pneumonia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1586 name: rheumatic fever alt_id: DOID:1006 alt_id: DOID:1007 def: "A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever." [url:https\://en.wikipedia.org/wiki/Rheumatic_fever, url:https\://medlineplus.gov/ency/article/003940.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "ACUTE RHEUMATIC FEVER" EXACT [] synonym: "RhF - Rheumatic fever" EXACT [] xref: GARD:5699 xref: ICD10CM:I00 xref: ICD10CM:I00-I02 xref: ICD9CM:390 xref: ICD9CM:390-392.99 xref: MESH:D012213 xref: NCI:C34984 xref: SNOMEDCT_US_2023_03_01:155265007 xref: SNOMEDCT_US_2023_03_01:274095001 xref: UMLS_CUI:C0035436 xref: UMLS_CUI:C0264743 is_a: DOID:104 ! bacterial infectious disease property_value: exactMatch "MESH:D012213" xsd:string [Term] id: DOID:1587 name: thrombocytopenia due to platelet alloimmunization subset: NCIthesaurus synonym: "Auto-immune thrombocytopenia" EXACT [] synonym: "Immune thrombocytopenia" EXACT [] synonym: "Thrombocytopenia Due to Immune Destruction" EXACT [] xref: NCI:C3991 xref: SNOMEDCT_US_2023_03_01:2897005 xref: UMLS_CUI:C0272286 is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:1588 name: thrombocytopenia def: "A blood platelet disease that is characterized by low a platelet count in the blood." [url:http\://en.wikipedia.org/wiki/Thrombocytopenia, url:http\://ghr.nlm.nih.gov/glossary=thrombocytopenia, url:http\://www.merckmanuals.com/professional/hematology_and_oncology/thrombocytopenia_and_platelet_dysfunction/overview_of_platelet_disorders.html] comment: Xref MGI. subset: DO_rare_slim xref: ICD10CM:D69.6 xref: ICD9CM:287.5 xref: MESH:D013921 xref: MIM:188000 xref: MIM:273900 xref: MIM:300367 xref: MIM:313900 xref: MIM:612004 xref: ORDO:852 xref: SNOMEDCT_US_2023_03_01:165556002 xref: UMLS_CUI:C0040034 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:159 name: obsolete mesothelial neoplasm synonym: "Mesothelial neoplasm (morphologic abnormality)" EXACT [] synonym: "Mesothelial neoplasm NOS (morphologic abnormality)" EXACT [] synonym: "Mesothelial tumor" EXACT [] synonym: "Mesothelial tumor morphology (qualifier value)" EXACT [] is_obsolete: true [Term] id: DOID:1591 name: renovascular hypertension subset: NCIthesaurus xref: ICD10CM:I15.0 xref: MESH:D006978 xref: NCI:C85044 xref: SNOMEDCT_US_2023_03_01:123799005 xref: UMLS_CUI:C0020545 is_a: DOID:1073 ! renal hypertension [Term] id: DOID:1592 name: obsolete secondary malignant neoplasm of retroperitoneum and peritoneum synonym: "secondary malignant neoplasm of retroperitoneum and peritoneum (disorder)" EXACT [] synonym: "secondary malignant neoplasm of retroperitoneum or peritoneum NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1593 name: obsolete metastasis to the peritoneum synonym: "metastatic neoplasm to the Peritoneum" EXACT [] synonym: "secondary malignant neoplasm of the peritoneum (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1595 name: melancholic depression alt_id: DOID:2848 alt_id: DOID:6340 def: "A major depressive disorder characterized by near-complete absence of pleasure." [url:https\://pubmed.ncbi.nlm.nih.gov/15596079/] comment: OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus synonym: "endogenous depression" EXACT [] synonym: "major depressive disorder with melancholic features" EXACT [] synonym: "melancholia" EXACT [] xref: MESH:D003866 xref: MIM:608516 xref: NCI:C34532 xref: NCI:C35094 xref: SNOMEDCT_US_2023_03_01:191599006 xref: UMLS_CUI:C0011573 xref: UMLS_CUI:C0041696 is_a: DOID:1470 ! major depressive disorder [Term] id: DOID:1596 name: depressive disorder alt_id: DOID:14672 def: "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function." [url:https\://my.clevelandclinic.org/health/diseases/9290-depression, url:https\://pubmed.ncbi.nlm.nih.gov/31550874/] subset: NCIthesaurus synonym: "depression" RELATED [] synonym: "mental depression" EXACT [] xref: ICD10CM:F33.9 xref: MESH:D003863 xref: NCI:C2982 xref: SNOMEDCT_US_2023_03_01:41006004 xref: UMLS_CUI:C0011570 is_a: DOID:3324 ! mood disorder property_value: closeMatch "UMLS_CUI:C0011570" xsd:string property_value: exactMatch "MESH:D003866" xsd:string property_value: exactMatch "NCI:C2982" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_02_28:35489007" xsd:string [Term] id: DOID:1597 name: obsolete single episode mild major depression synonym: "Major depressive disorder, single episode, mild degree" EXACT [] synonym: "Mild major depression, single episode (disorder)" EXACT [] synonym: "Single major depressive episode, mild (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1599 name: obsolete single episode moderate major depression synonym: "Major depressive disorder, single episode, moderate degree" EXACT [] synonym: "Moderate major depression, single episode (disorder)" EXACT [] synonym: "Single major depressive episode, moderate (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:16 name: integumentary system disease def: "A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages." [url:http\://en.wikipedia.org/wiki/Integumentary_system] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:1602 name: lymphadenitis alt_id: DOID:1600 alt_id: DOID:9941 def: "A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes." [url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/lymphadenitis] comment: This doid includes the acute and chronic forms.[LS] subset: NCIthesaurus synonym: "acute adenitis" EXACT [] synonym: "acute lymphadenitis" EXACT [] synonym: "Adenitis" EXACT [] synonym: "chronic adenitis" EXACT [] synonym: "chronic Lymphadenitis" EXACT [] synonym: "Inflammation of lymph node" EXACT [] xref: ICD10CM:I88.1 xref: ICD10CM:L04 xref: ICD9CM:289.1 xref: ICD9CM:683 xref: MESH:D008199 xref: NCI:C26821 xref: NCI:C26966 xref: NCI:C26978 xref: SNOMEDCT_US_2023_03_01:154836001 xref: SNOMEDCT_US_2023_03_01:156318008 xref: SNOMEDCT_US_2023_03_01:19471005 xref: UMLS_CUI:C0024205 xref: UMLS_CUI:C0154304 xref: UMLS_CUI:C0157705 is_a: DOID:9942 ! lymph node disease [Term] id: DOID:1607 name: hypoglycemic coma def: "A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma." [url:https\://en.wikipedia.org/wiki/Hypoglycemia, url:https\://www.mayoclinic.org/diseases-conditions/diabetic-coma/symptoms-causes/syc-20371475, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1838950/] subset: NCIthesaurus xref: ICD10CM:E15 xref: ICD9CM:251.0 xref: NCI:C181765 xref: SNOMEDCT_US_2023_03_01:267476006 xref: UMLS_CUI:C0020617 is_a: DOID:936 ! brain disease [Term] id: DOID:161 name: keratosis def: "A skin disease characterized_by growth of keratin on the skin or mucous membranes." [url:https\://en.wikipedia.org/wiki/Keratosis] subset: NCIthesaurus xref: MESH:D007642 xref: NCI:C34747 xref: SNOMEDCT_US_2023_03_01:254666005 xref: UMLS_CUI:C0022593 is_a: DOID:37 ! skin disease [Term] id: DOID:1612 name: breast cancer alt_id: DOID:1648 alt_id: DOID:4241 def: "An organ system cancer that originates in the mammary gland." [url:http\://en.wikipedia.org/wiki/Breast_cancer, url:http\://en.wikipedia.org/wiki/Mammary, url:http\://www.cancer.gov/cancertopics/types/breast, url:http\://www.nlm.nih.gov/medlineplus/breastcancer.html, url:https\://www.genome.gov/Genetic-Disorders/Breast-Cancer] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_CFDE_slim subset: DO_RAD_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "breast tumor" EXACT [] synonym: "malignant neoplasm of breast" EXACT [] synonym: "malignant tumor of the breast" EXACT [] synonym: "mammary cancer" EXACT [] synonym: "mammary neoplasm" RELATED [] synonym: "mammary tumor" EXACT [] synonym: "primary breast cancer" EXACT [] xref: ICD10CM:C50 xref: MESH:D001943 xref: MIM:114480 xref: NCI:C9335 xref: SNOMEDCT_US_2023_03_01:254837009 xref: UMLS_CUI:C0006142 is_a: DOID:0050686 ! organ system cancer is_a: DOID:3463 ! breast disease [Term] id: DOID:1614 name: male breast cancer alt_id: DOID:9796 def: "A breast cancer that occurs in males." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24131976] subset: DO_rare_slim synonym: "malignant neoplasm of male breast" EXACT [] synonym: "neoplasm of male breast" EXACT [] xref: GARD:9312 xref: MESH:D018567 xref: SNOMEDCT_US_2023_03_01:126937006 xref: UMLS_CUI:C0242788 is_a: DOID:1612 ! breast cancer [Term] id: DOID:1616 name: benign eccrine breast spiradenoma def: "A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25284865/, url:https\://www.ncbi.nlm.nih.gov/pubmed/26236527/] subset: NCIthesaurus xref: NCI:C5193 xref: UMLS_CUI:C1332492 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:1618 name: breast fibroadenoma alt_id: DOID:2684 alt_id: DOID:2693 alt_id: DOID:7226 def: "A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast." [url:http\://en.wikipedia.org/wiki/Fibroadenoma, url:http\://www.nlm.nih.gov/medlineplus/ency/article/007216.htm] subset: NCIthesaurus synonym: "cellular Fibroadenoma" EXACT [] synonym: "Complex Fibroadenoma of breast" EXACT [] synonym: "fibroadenoma" EXACT [] synonym: "Fibroadenoma of breast" EXACT [] synonym: "Juvenile fibroadenoma" EXACT [] synonym: "juvenile fibroadenoma of breast" EXACT [] xref: ICD10CM:D24 xref: MESH:D018226 xref: NCI:C3744 xref: NCI:C4276 xref: NCI:C5194 xref: SNOMEDCT_US_2023_03_01:254847007 xref: SNOMEDCT_US_2023_03_01:269640007 xref: SNOMEDCT_US_2023_03_01:65877006 xref: UMLS_CUI:C0178421 xref: UMLS_CUI:C0206650 xref: UMLS_CUI:C0346158 xref: UMLS_CUI:C1333137 is_a: DOID:0060082 ! breast benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:162 name: cancer def: "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis." [url:http\://en.wikipedia.org/wiki/cancer, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cancer] comment: Updating out dated UMLS CUI. subset: DO_AGR_slim subset: DO_cancer_slim subset: DO_CFDE_slim subset: DO_FlyBase_slim subset: DO_GXD_slim subset: DO_RAD_slim subset: NCIthesaurus synonym: "malignant neoplasm" EXACT [] synonym: "malignant tumor" EXACT [] synonym: "primary cancer" EXACT [] xref: ICD10CM:C80.1 xref: ICD9CM:199 xref: ICDO:8000/3 xref: MESH:D009369 xref: NCI:C9305 xref: SNOMEDCT_US_2023_03_01:269513004 xref: UMLS_CUI:C0006826 is_a: DOID:14566 ! disease of cellular proliferation [Term] id: DOID:1620 name: obsolete breast fibroepithelial tumor is_obsolete: true [Term] id: DOID:1623 name: breast leiomyoma def: "A breast benign neoplasm that has_material_basis_in smooth muscle cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/] subset: NCIthesaurus xref: NCI:C40399 xref: UMLS_CUI:C1511317 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:1624 name: obsolete breast soft tissue tumor is_obsolete: true [Term] id: DOID:1625 name: breast adenoma def: "A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures." [url:https\://www.ncbi.nlm.nih.gov/pubmed/949710] subset: NCIthesaurus synonym: "Ademoma - breast" EXACT [] xref: NCI:C40382 xref: SNOMEDCT_US_2023_03_01:269640007 xref: UMLS_CUI:C1328385 is_a: DOID:0060082 ! breast benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:1626 name: breast duct papilloma def: "An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue." [url:https\://en.wikipedia.org/wiki/Intraductal_papilloma] subset: NCIthesaurus synonym: "duct papilloma of breast" EXACT [] synonym: "papilloma of the breast" EXACT [] xref: NCI:C3863 xref: SNOMEDCT_US_2023_03_01:254848002 xref: UMLS_CUI:C0238034 is_a: DOID:1628 ! intraductal papillary breast neoplasm is_a: DOID:2615 ! papilloma [Term] id: DOID:1627 name: intraductal papilloma subset: NCIthesaurus synonym: "ductal papilloma" EXACT [] xref: ICDO:8503/0 xref: MESH:D018300 xref: NCI:C3785 xref: SNOMEDCT_US_2023_03_01:5244003 xref: UMLS_CUI:C0206713 is_a: DOID:2615 ! papilloma is_a: DOID:3013 ! intraductal breast benign neoplasm [Term] id: DOID:1628 name: intraductal papillary breast neoplasm def: "An intraductal breast benign neoplasm that is characterized by fingerlike growth projections." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22336153] subset: NCIthesaurus xref: NCI:C36090 xref: UMLS_CUI:C1334252 is_a: DOID:3013 ! intraductal breast benign neoplasm [Term] id: DOID:1629 name: breast myofibroblastoma def: "A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation." [url:http\://www.pathologyoutlines.com/topic/breastmyofibroblastoma.html, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199680/] subset: NCIthesaurus xref: NCI:C40397 xref: UMLS_CUI:C1511320 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:163 name: obsolete mucoepidermoid tumor synonym: "Mucoepidermoid neoplasm (morphologic abnormality)" EXACT [] synonym: "Mucoepidermoid neoplasm (morphology)" EXACT [] synonym: "Mucoepidermoid neoplasm NOS (morphologic abnormality)" EXACT [] synonym: "Mucoepidermoid tumor [obs]" EXACT [] is_obsolete: true [Term] id: DOID:1631 name: benign breast phyllodes tumor alt_id: DOID:1633 alt_id: DOID:2608 def: "A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast." [url:https\://en.wikipedia.org/wiki/Phyllodes_tumor] subset: NCIthesaurus synonym: "benign cystosarcoma phyllodes" EXACT [] synonym: "benign Phyllodes neoplasm" EXACT [] synonym: "benign Phyllodes neoplasm of the breast" EXACT [] synonym: "Cystosarcoma phyllodes" EXACT [] synonym: "Phyllodes neoplasm" EXACT [] xref: ICD10CM:D48.6 xref: MESH:D003557 xref: NCI:C2977 xref: NCI:C4274 xref: NCI:C5196 xref: SNOMEDCT_US_2023_03_01:16566002 xref: SNOMEDCT_US_2023_03_01:71232009 xref: SNOMEDCT_US_2023_03_01:720344007 xref: UMLS_CUI:C0010701 xref: UMLS_CUI:C0334501 xref: UMLS_CUI:C1332533 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:1634 name: obsolete breast papillomatosis is_obsolete: true [Term] id: DOID:1637 name: breast angiomatosis def: "A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia." [url:http\://surgpathcriteria.stanford.edu/breast/angiomatosisbr/printable.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/23488550] subset: NCIthesaurus xref: NCI:C40381 xref: UMLS_CUI:C1511284 is_a: DOID:1271 ! capillary disease is_a: DOID:3463 ! breast disease [Term] id: DOID:1638 name: central nervous system tuberculosis alt_id: DOID:0050121 alt_id: DOID:0050122 alt_id: DOID:10094 alt_id: DOID:1640 def: "An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." [url:https\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease synonym: "intracranial tuberculoma" EXACT [] synonym: "tuberculoma of brain" EXACT [] synonym: "tuberculosis of meninges and central nervous system" EXACT [] synonym: "tuberculous abscess of brain" EXACT [] xref: ICD9CM:013.2 xref: MESH:D016862 xref: SNOMEDCT_US_2023_03_01:40769007 xref: UMLS_CUI:C0085388 is_a: DOID:0050598 ! extrapulmonary tuberculosis is_a: DOID:331 ! central nervous system disease [Term] id: DOID:1639 name: skeletal tuberculosis def: "An extrapulmonary tuberculosis that results in formation of lesions located in bone." [url:http\://en.wikipedia.org/wiki/Bone_Tuberculosis] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease synonym: "osteoarticular tuberculosis" EXACT [] xref: ICD10CM:A18.0 xref: ICD9CM:015.9 xref: MESH:D014394 xref: SNOMEDCT_US_2023_03_01:154287006 xref: UMLS_CUI:C0041324 is_a: DOID:0050598 ! extrapulmonary tuberculosis is_a: DOID:0080001 ! bone disease [Term] id: DOID:164 name: obsolete cystic, mucinous, and serous neoplasm synonym: "cystic, mucinous and serous neoplasm (morphologic abnormality)" EXACT [] synonym: "cystic, mucinous and serous tumor (qualifier value)" EXACT [] is_obsolete: true [Term] id: DOID:1641 name: benign breast adenomyoepithelioma def: "A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23627458] subset: NCIthesaurus synonym: "benign Adenomyoepithelioma of the breast" EXACT [] xref: NCI:C5144 xref: UMLS_CUI:C1332477 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:1642 name: breast adenomyoepithelioma alt_id: DOID:6640 def: "A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells." [url:http\://www.ajronline.org/cgi/content/full/180/3/799] subset: NCIthesaurus synonym: "adenomyoepithelioma of the breast" RELATED [] synonym: "breast Adenomyoepithelioma with malignant Change" EXACT [] synonym: "malignant adenomyoepithelioma of breast" EXACT [] xref: NCI:C5143 xref: NCI:C6899 xref: UMLS_CUI:C1334564 xref: UMLS_CUI:C1510795 is_a: DOID:3004 ! breast myoepithelial neoplasm [Term] id: DOID:1647 name: female breast upper-inner quadrant cancer def: "A female breast cancer that is located_in the upper-inner quadrant of the breast." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/] synonym: "malignant neoplasm of upper-inner quadrant of female breast" EXACT [] xref: ICD9CM:174.2 xref: SNOMEDCT_US_2023_03_01:188152004 xref: UMLS_CUI:C0153550 is_a: DOID:0050671 ! female breast cancer [Term] id: DOID:1649 name: female breast lower-inner quadrant cancer def: "A female breast cancer that is located_in the lower-inner quadrant of the breast." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/] synonym: "malignant neoplasm of lower-inner quadrant of female breast" EXACT [] xref: ICD10CM:C50.31 xref: ICD9CM:174.3 xref: SNOMEDCT_US_2023_03_01:188153009 xref: UMLS_CUI:C0153551 is_a: DOID:0050671 ! female breast cancer [Term] id: DOID:1650 name: female breast axillary tail cancer def: "A female breast cancer that is located_in the breast tissue extending into the axilla." [url:https\://en.wikipedia.org/wiki/Tail_of_Spence, url:https\://www.ncbi.nlm.nih.gov/pubmed/24004816\,] synonym: "malignant neoplasm of axillary tail of female breast" EXACT [] xref: ICD10CM:C50.61 xref: ICD9CM:174.6 xref: SNOMEDCT_US_2023_03_01:93685009 xref: UMLS_CUI:C0153554 is_a: DOID:0050671 ! female breast cancer [Term] id: DOID:1657 name: ventricular septal defect def: "A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." [url:http\://en.wikipedia.org/wiki/Ventricular_septal_defect, url:http\://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/ventricular_septal_defect_vsd.html] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "Interventricular septal defect" EXACT [] synonym: "Ventricular septal abnormality" EXACT [] xref: GARD:7853 xref: ICD10CM:Q21.0 xref: ICD9CM:745.4 xref: MESH:D006345 xref: MIM:614429 xref: MIM:614431 xref: MIM:614432 xref: NCI:C84506 xref: ORDO:1480 xref: SNOMEDCT_US_2023_03_01:156914003 xref: UMLS_CUI:C0018818 is_a: DOID:1681 ! heart septal defect [Term] id: DOID:1659 name: supratentorial cancer alt_id: DOID:1658 def: "A brain cancer that is located in the supratentorial region." [url:http\://en.wikipedia.org/wiki/Tentorium_cerebelli] subset: NCIthesaurus synonym: "Brain neoplasm, Supratentorial" EXACT [] synonym: "malignant Supratentorial tumor" EXACT [] xref: ICD10CM:C71.0 xref: MESH:D015173 xref: NCI:C3397 xref: NCI:C4964 xref: UMLS_CUI:C0038874 xref: UMLS_CUI:C0751589 is_a: DOID:1319 ! brain cancer [Term] id: DOID:166 name: melanotic neuroectodermal tumor subset: DO_cancer_slim subset: NCIthesaurus synonym: "Infantile Melanotic neuroectodermal neoplasm" EXACT [] synonym: "Melanotic neuroectodermal tumor of infancy" EXACT [] synonym: "melanotic neuroectodermal tumour" EXACT [] synonym: "Melanotic neuroectodermal tumour of infancy" EXACT [] synonym: "Pigmented neuroectodermal tumour of infancy" EXACT [] xref: ICDO:9363/0 xref: MESH:D017600 xref: NCI:C3717 xref: SNOMEDCT_US_2023_03_01:1513001 xref: UMLS_CUI:C0206094 is_a: DOID:0060094 ! bone benign neoplasm [Term] id: DOID:1660 name: malignant pineal area germ cell neoplasm alt_id: DOID:1663 subset: DO_rare_slim subset: NCIthesaurus synonym: "malignant Pineal Parenchymal germ cell tumor" EXACT [] synonym: "pineal germ cell tumor" EXACT [] synonym: "Pineal Region germ cell tumor" EXACT [] xref: GARD:12017 xref: NCI:C4659 xref: NCI:C6767 xref: SNOMEDCT_US_2023_03_01:277508009 xref: UMLS_CUI:C0349621 xref: UMLS_CUI:C1334612 is_a: DOID:5032 ! pineal gland cancer [Term] id: DOID:1661 name: obsolete malignant intracranial germ cell neoplasm is_obsolete: true [Term] id: DOID:1664 name: pineoblastoma def: "A pineal gland neoplasm located_in the brain." [url:http\://en.wikipedia.org/wiki/Pinealoblastoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/28327927] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Pineal PNET" EXACT [] xref: GARD:9369 xref: ICDO:9362/3 xref: MESH:D010871 xref: NCI:C9344 xref: SNOMEDCT_US_2023_03_01:31671006 xref: UMLS_CUI:C0205898 is_a: DOID:5032 ! pineal gland cancer [Term] id: DOID:1665 name: obsolete central nervous system embryonal cancer def: "An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord." [url:http\://www.cancer.gov/cancertopics/childCNSembryonal] synonym: "embryonal neoplasm of CNS" RELATED [] synonym: "embryonal tumor of the CNS" EXACT [] is_obsolete: true [Term] id: DOID:1666 name: obsolete hip enthesopathy synonym: "Enthesopathy of hip region" EXACT [] synonym: "Enthesopathy of hip region (disorder)" EXACT [] synonym: "Enthesopathy of the hip region" EXACT [] synonym: "Enthesopathy of the hip region (disorder)" EXACT [] synonym: "Hip enthesopathy NOS (disorder)" EXACT [] synonym: "Hip enthesopathy, unspecified (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1667 name: obsolete peripheral enthesopathy is_obsolete: true [Term] id: DOID:1670 name: Behcet's syndrome arthropathy alt_id: DOID:12407 alt_id: DOID:12810 alt_id: DOID:12982 alt_id: DOID:1669 alt_id: DOID:1671 alt_id: DOID:7354 alt_id: DOID:8473 alt_id: DOID:8522 subset: NCIthesaurus synonym: "Arthropathy in Behcet's syndrome involving ankle and foot" EXACT [] synonym: "Arthropathy in Behcet's syndrome involving forearm" EXACT [] synonym: "Arthropathy in Behcet's syndrome involving hand" EXACT [] synonym: "Arthropathy in Behcet's syndrome involving lower leg" EXACT [] synonym: "Arthropathy in Behcet's syndrome involving multiple sites" EXACT [] synonym: "Arthropathy in Behcet's syndrome involving pelvic region and thigh" EXACT [] synonym: "Arthropathy in Behcet's syndrome involving shoulder region" EXACT [] synonym: "Arthropathy in Behcet's syndrome involving upper arm" EXACT [] synonym: "Behcet syndrome arthropathy" EXACT [] xref: ICD9CM:711.2 xref: NCI:C35225 xref: SNOMEDCT_US_2023_03_01:62918002 xref: UMLS_CUI:C0157770 is_a: DOID:381 ! arthropathy [Term] id: DOID:1672 name: spontaneous tension pneumothorax def: "A pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29961427] xref: ICD10CM:J93.0 xref: ICD9CM:512.0 xref: SNOMEDCT_US_2023_03_01:76537003 xref: UMLS_CUI:C0155907 is_a: DOID:1673 ! pneumothorax [Term] id: DOID:1673 name: pneumothorax def: "A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall." [url:https\://en.wikipedia.org/wiki/Pneumothorax, url:https\://medlineplus.gov/ency/article/000087.htm] xref: ICD10CM:J93.1 xref: SNOMEDCT_US_2023_03_01:196103008 xref: UMLS_CUI:C0029850 is_a: DOID:1532 ! pleural disease property_value: exactMatch "MESH:D011030" xsd:string [Term] id: DOID:1677 name: low implantation of placenta alt_id: DOID:1676 alt_id: DOID:2167 xref: ICD9CM:641.0 xref: SNOMEDCT_US_2023_03_01:198897009 xref: UMLS_CUI:C0156617 is_a: DOID:11060 ! placenta praevia [Term] id: DOID:1678 name: chronic interstitial cystitis def: "A chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and has_symptom pain, has_symptom pressure, has_symptom discomfort, has_symptom dysuria, and/or has_symptom urinary frequency." [url:https\://en.wikipedia.org/wiki/Interstitial_cystitis, url:https\://www.mayoclinic.org/diseases-conditions/interstitial-cystitis/symptoms-causes/syc-20354357] xref: ICD10CM:N30.1 xref: ICD9CM:595.1 xref: MESH:D018856 xref: SNOMEDCT_US_2023_03_01:44497007 xref: UMLS_CUI:C0600040 is_a: DOID:1680 ! chronic cystitis [Term] id: DOID:1679 name: cystitis def: "A bladder disease that is characterized by inflammation of the bladder." [url:https\://www.mayoclinic.org/diseases-conditions/cystitis/symptoms-causes/syc-20371306] subset: NCIthesaurus xref: ICD10CM:N30 xref: ICD9CM:595 xref: MESH:D003556 xref: NCI:C26738 xref: SNOMEDCT_US_2023_03_01:38822007 xref: UMLS_CUI:C0010692 is_a: DOID:365 ! bladder disease [Term] id: DOID:1680 name: chronic cystitis xref: ICD10CM:N30.2 xref: ICD9CM:595.2 xref: SNOMEDCT_US_2023_03_01:197839008 xref: UMLS_CUI:C0156268 is_a: DOID:1679 ! cystitis [Term] id: DOID:1681 name: heart septal defect subset: NCIthesaurus synonym: "Cardiac septal defects" EXACT [] synonym: "Congenital septal defect of heart" EXACT [] synonym: "septal defect" EXACT [] xref: ICD10CM:Q21.9 xref: MESH:D006343 xref: NCI:C84482 xref: SNOMEDCT_US_2023_03_01:204290008 xref: UMLS_CUI:C0018816 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:1682 name: congenital heart disease comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "Congenital anomaly of heart" EXACT [] synonym: "congenital heart defect" EXACT [] synonym: "Congenital Heart Defects" EXACT [] synonym: "heart defect" EXACT [] synonym: "Heart Malformation" EXACT [] synonym: "Heart-congenital defect" RELATED [] xref: ICD10CM:Q24.9 xref: ICD9CM:746.9 xref: MESH:D006330 xref: NCI:C34666 xref: SNOMEDCT_US_2023_03_01:268315002 xref: UMLS_CUI:C0018798 is_a: DOID:0080015 ! physical disorder is_a: DOID:114 ! heart disease [Term] id: DOID:1685 name: obsolete glaucoma associated with vascular disorder is_obsolete: true [Term] id: DOID:1686 name: glaucoma def: "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function." [url:https\://en.wikipedia.org/wiki/Glaucoma, url:https\://www.aao.org/eye-health/diseases/what-is-glaucoma] subset: DO_FlyBase_slim subset: NCIthesaurus xref: ICD10CM:H40 xref: ICD9CM:365 xref: MESH:D005901 xref: NCI:C26782 xref: SNOMEDCT_US_2023_03_01:155120009 xref: UMLS_CUI:C0017601 is_a: DOID:5614 ! eye disease [Term] id: DOID:1687 name: neovascular glaucoma def: "A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases." [url:https\://journalretinavitreous.biomedcentral.com/articles/10.1186/s40942-016-0051-x] synonym: "secondary angle-closure glaucoma with rubeosis" EXACT [] xref: MESH:D015355 xref: SNOMEDCT_US_2023_03_01:193564003 xref: UMLS_CUI:C0017609 is_a: DOID:1686 ! glaucoma [Term] id: DOID:169 name: neuroendocrine tumor def: "An endocrine gland cancer that has_material_basis_in neuroendocrine cells." [url:http\://en.wikipedia.org/wiki/Neuroendocrine_cell, url:http\://en.wikipedia.org/wiki/Neuroendocrine_tumor, url:http\://www.cancer.gov/dictionary?CdrID=44904] subset: DO_cancer_slim subset: NCIthesaurus synonym: "neuroendocrine neoplasm" EXACT [] xref: ICD10CM:D3A.8 xref: ICD9CM:209-209.99 xref: ICDO:8240/3 xref: MESH:D018358 xref: NCI:C3809 xref: SNOMEDCT_US_2023_03_01:55937004 xref: UMLS_CUI:C0206754 is_a: DOID:170 ! endocrine gland cancer [Term] id: DOID:1695 name: obsolete congenital ichthyosis synonym: "(Congenital ichthyosiform erythroderma) or (alligator skin) or (ichthyosis congenita NOS)" EXACT [] synonym: "Congenital ichthyosis of skin (disorder)" EXACT [] synonym: "Congenital ichthyosis, unspecified (disorder)" EXACT [] synonym: "Ichthyosis congenita" EXACT [] synonym: "ichthyosis congenita" EXACT [] synonym: "Ichthyosis congenita NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1697 name: ichthyosis def: "A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed." [url:http\://purl.obolibrary.org/obo/HP_0008064, url:http\://www.dermnetnz.org/topics/ichthyosis/, url:https\://en.wikipedia.org/wiki/Ichthyosis, url:https\://www.ncbi.nlm.nih.gov/books/NBK1420/] subset: DO_rare_slim synonym: "ichthyoses" EXACT [] synonym: "non-syndromic ichthyosis" EXACT [] xref: MESH:D007057 xref: ORDO:79354 is_a: DOID:37 ! skin disease [Term] id: DOID:1699 name: obsolete congenital ichthyosiform erythroderma alt_id: DOID:1696 is_obsolete: true [Term] id: DOID:17 name: musculoskeletal system disease def: "A disease of anatomical entity that occurs in the muscular and/or skeletal system." [url:http\://en.wikipedia.org/wiki/Human_musculoskeletal_system#Diseases_and_disorders] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim subset: NCIthesaurus xref: MESH:D009140 xref: NCI:C107377 xref: SNOMEDCT_US_2023_03_01:268047003 xref: UMLS_CUI:C0026857 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:170 name: endocrine gland cancer alt_id: DOID:10009 def: "An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system." [url:http\://en.wikipedia.org/wiki/Endocrine_system] subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "endocrine neoplasm" EXACT [] synonym: "Endocrine tumor" EXACT [] synonym: "malignant Endocrine tumor" EXACT [] synonym: "malignant neoplasm of endocrine gland" EXACT [] synonym: "malignant tumour of endocrine gland" EXACT [] synonym: "neoplasm of endocrine gland" EXACT [] synonym: "neoplasm of endocrine system" EXACT [] xref: ICD10CM:C75.9 xref: ICD9CM:194.9 xref: MESH:D004701 xref: NCI:C3010 xref: NCI:C3575 xref: SNOMEDCT_US_2023_03_01:127015005 xref: SNOMEDCT_US_2023_03_01:93780007 xref: UMLS_CUI:C0014132 xref: UMLS_CUI:C0153658 is_a: DOID:0050686 ! organ system cancer [Term] id: DOID:1700 name: X-linked ichthyosis def: "An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22." [url:https\://rarediseases.info.nih.gov/diseases/7904/disease, url:https\://www.omim.org/entry/308100] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "X-linked ichthyosis with steryl-sulphatase deficiency" EXACT [] synonym: "X-linked placental steryl-sulphatase deficiency" EXACT [] synonym: "X-linked recessive ichthyosis" EXACT [] xref: GARD:7904 xref: ICD10CM:Q80.1 xref: MESH:D016114 xref: MIM:308100 xref: NCI:C84779 xref: SNOMEDCT_US_2023_03_01:72523005 xref: UMLS_CUI:C0079588 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1697 ! ichthyosis [Term] id: DOID:1701 name: steroid inherited metabolic disorder def: "A lipid metabolism disorder that involves defects in steroid metabolism." [url:http\://en.wikipedia.org/wiki/Inborn_error_of_steroid_metabolism, url:http\://www.genome.jp/dbget-bin/www_bget?pathway+hsa00140] xref: MESH:D043202 xref: UMLS_CUI:C1257809 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:1702 name: ichthyosis vulgaris def: "An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface." [url:https\://www.mayoclinic.org/diseases-conditions/ichthyosis-vulgaris/symptoms-causes/syc-20373754] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Dominant congenital ichthyosiform erythroderma" EXACT [] xref: GARD:6752 xref: ICD10CM:Q80.0 xref: MESH:D016112 xref: MIM:146700 xref: NCI:C84778 xref: SNOMEDCT_US_2023_03_01:205551004 xref: UMLS_CUI:C0079584 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1697 ! ichthyosis [Term] id: DOID:1703 name: Richter's syndrome subset: DO_rare_slim subset: NCIthesaurus synonym: "Richter syndrome" EXACT [] xref: GARD:7578 xref: ICD10CM:C91.1 xref: NCI:C35424 xref: SNOMEDCT_US_2023_03_01:277550009 xref: UMLS_CUI:C0349631 is_a: DOID:1040 ! chronic lymphocytic leukemia [Term] id: DOID:1709 name: obsolete rickettsiosis alt_id: DOID:0050027 alt_id: DOID:0050031 alt_id: DOID:0050033 alt_id: DOID:10243 subset: gram-negative_bacterial_infectious_disease synonym: "flea-borne rickettsiosis" EXACT [] synonym: "mite-borne rickettsiosis" EXACT [] synonym: "rickettsia infection" RELATED [] synonym: "rickettsiosis" EXACT [] synonym: "tick-borne rickettsiosis" EXACT [] is_obsolete: true [Term] id: DOID:171 name: neuroectodermal tumor synonym: "primitive Neuroectodermal neoplasm" EXACT [] xref: MESH:D017599 xref: SNOMEDCT_US_2023_03_01:73676002 xref: UMLS_CUI:C0206093 is_a: DOID:3093 ! nervous system cancer [Term] id: DOID:1712 name: aortic valve stenosis alt_id: DOID:12034 alt_id: DOID:1711 def: "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening." [url:http\://en.wikipedia.org/wiki/Aortic_valve_stenosis, url:https\://rarediseases.info.nih.gov/diseases/5830/aortic-valve-stenosis] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Aortic stenosis" EXACT [] synonym: "Rheumatic aortic stenosis" EXACT [] synonym: "rheumatic aortic valve stenosis" EXACT [] xref: GARD:5830 xref: ICD10CM:I06.0 xref: ICD10CM:Q23.0 xref: ICD9CM:395.0 xref: ICD9CM:746.3 xref: MESH:D001024 xref: NCI:C50462 xref: SNOMEDCT_US_2023_03_01:155282009 xref: SNOMEDCT_US_2023_03_01:18546004 xref: SNOMEDCT_US_2023_03_01:60573004 xref: UMLS_CUI:C0003507 xref: UMLS_CUI:C0152417 xref: UMLS_CUI:C0155567 is_a: DOID:62 ! aortic valve disease property_value: exactMatch "MESH:D001024" xsd:string [Term] id: DOID:1713 name: benign shuddering attacks xref: ICD10CM:G25.83 xref: ICD9CM:333.93 xref: SNOMEDCT_US_2023_03_01:446995005 xref: UMLS_CUI:C0375200 is_a: DOID:480 ! movement disease [Term] id: DOID:172 name: clear cell acanthoma subset: NCIthesaurus synonym: "Pale (Clear cell) acanthoma" EXACT [] xref: ICDO:8084/0 xref: MESH:D049309 xref: NCI:C97041 xref: SNOMEDCT_US_2023_03_01:65540008 xref: UMLS_CUI:C0333992 is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:1724 name: duodenal ulcer alt_id: DOID:10297 alt_id: DOID:11480 alt_id: DOID:12880 alt_id: DOID:13836 alt_id: DOID:1723 alt_id: DOID:9780 alt_id: DOID:9781 alt_id: DOID:9782 alt_id: DOID:9783 comment: Adding UMLS CUI for Curling Ulcer C0013295. subset: NCIthesaurus synonym: "Curling Ulcer" EXACT [] synonym: "Curling's ulcers" EXACT [] synonym: "Stress Ulcer" EXACT [] xref: ICD10CM:K26 xref: ICD9CM:532 xref: MESH:D004381 xref: NCI:C26755 xref: SNOMEDCT_US_2023_03_01:155691003 xref: SNOMEDCT_US_2023_03_01:39755000 xref: UMLS_CUI:C0010474 xref: UMLS_CUI:C0013295 is_a: DOID:750 ! peptic ulcer disease [Term] id: DOID:1725 name: peritoneum cancer def: "An organ system cancer that is located in the peritoneum." [url:http\://en.wikipedia.org/wiki/Peritoneal_cancer] subset: TopNodes_DOcancerslim synonym: "cancer of peritoneum" RELATED [] synonym: "peritoneal neoplasm" RELATED [] xref: ICD10CM:C48.1 xref: ICD9CM:158.8 xref: SNOMEDCT_US_2023_03_01:187808008 xref: UMLS_CUI:C0153466 is_a: DOID:0050686 ! organ system cancer [Term] id: DOID:1726 name: partial of retinal vein occlusion subset: NCIthesaurus synonym: "Partial occlusion of retinal vein" EXACT [] synonym: "Partial Retinal Vein Occlusion" EXACT [] xref: ICD10CM:H34.82 xref: NCI:C35341 xref: SNOMEDCT_US_2023_03_01:65593009 xref: UMLS_CUI:C0271080 is_a: DOID:1727 ! retinal vein occlusion [Term] id: DOID:1727 name: retinal vein occlusion subset: NCIthesaurus synonym: "Occlusion, of retinal vein" EXACT [] xref: MESH:D012170 xref: NCI:C34981 xref: SNOMEDCT_US_2023_03_01:46085004 xref: UMLS_CUI:C0035328 is_a: DOID:1729 ! retinal vascular occlusion is_a: DOID:866 ! vein disease [Term] id: DOID:1729 name: retinal vascular occlusion subset: NCIthesaurus synonym: "Retinal vasc. occlusion" EXACT [] xref: ICD10CM:H34 xref: ICD9CM:362.3 xref: NCI:C34980 xref: SNOMEDCT_US_2023_03_01:267717005 xref: UMLS_CUI:C0035326 is_a: DOID:2462 ! retinal vascular disease is_a: DOID:341 ! peripheral vascular disease [Term] id: DOID:173 name: eccrine sweat gland neoplasm subset: NCIthesaurus synonym: "eccrine skin neoplasm" EXACT [] synonym: "Eccrine tumor" EXACT [] xref: NCI:C6796 xref: UMLS_CUI:C1333371 is_a: DOID:2664 ! sweat gland benign neoplasm [Term] id: DOID:1730 name: obsolete histoplasmosis pneumonia def: "A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain." [url:http\://www.doctorfungus.org/Mycoses/human/histo/histoplamosis_d.htm, url:http\://www.jstor.org/stable/pdfplus/4547765.pdf, url:http\://www.springerlink.com/content/dl7677h135470438/fulltext.pdf] synonym: "Histoplasmosis with pneumonia (disorder)" EXACT [] synonym: "Pneumonia with histoplasmosis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1731 name: histoplasmosis alt_id: DOID:351 def: "A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains." [url:http\://www.cdc.gov/niosh/hi97146.html] subset: DO_infectious_disease_slim subset: NCIthesaurus xref: ICD10CM:B39 xref: ICD9CM:115 xref: MESH:C538362 xref: MESH:D006660 xref: NCI:C34977 xref: NCI:C77201 xref: SNOMEDCT_US_2023_03_01:266218008 xref: UMLS_CUI:C0019655 xref: UMLS_CUI:C0035288 is_a: DOID:0050292 ! primary systemic mycosis [Term] id: DOID:1733 name: cryptosporidiosis alt_id: DOID:1732 def: "A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Cryptosporidiosis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Cryptosporidial gastroenteritis" EXACT [] synonym: "Infection by Cryptosporidium" EXACT [] synonym: "intestinal cryptosporidiosis" EXACT [] xref: GARD:6219 xref: ICD10CM:A07.2 xref: ICD9CM:007.4 xref: MESH:D003457 xref: NCI:C128408 xref: SNOMEDCT_US_2023_03_01:186126003 xref: UMLS_CUI:C0010418 is_a: DOID:2113 ! coccidiosis is_a: DOID:5295 ! intestinal disease [Term] id: DOID:1734 name: obsolete viral gastroenteritis alt_id: DOID:1497 def: "A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting." [url:http\://www.merck.com/mmhe/sec09/ch122/ch122a.html#MMHE_122_T1] is_obsolete: true [Term] id: DOID:1737 name: duodenal benign neoplasm subset: NCIthesaurus synonym: "neoplasm of duodenum" EXACT [] synonym: "neoplasm of the duodenum" EXACT [] xref: MESH:D004379 xref: NCI:C2995 xref: SNOMEDCT_US_2023_03_01:126833009 xref: UMLS_CUI:C0013291 is_a: DOID:4072 ! duodenum disease is_a: DOID:7505 ! small intestine benign neoplasm [Term] id: DOID:1738 name: small intestine leiomyoma def: "A small intestine benign neoplasm that is located_in the small intestine." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1869141/] subset: NCIthesaurus synonym: "leiomyoma, small Bowel" EXACT [] xref: NCI:C7725 xref: SNOMEDCT_US_2023_03_01:424279009 xref: UMLS_CUI:C0238197 is_a: DOID:127 ! leiomyoma is_a: DOID:7505 ! small intestine benign neoplasm [Term] id: DOID:174 name: acanthoma subset: DO_rare_slim subset: NCIthesaurus xref: GARD:8604 xref: MESH:D049309 xref: NCI:C7419 xref: UMLS_CUI:C0846967 is_a: DOID:3168 ! squamous cell neoplasm property_value: exactMatch "MESH:D049309" xsd:string [Term] id: DOID:1741 name: obsolete drug-induced psychotic disease with delusion is_obsolete: true [Term] id: DOID:1742 name: drug psychosis synonym: "Drug-induced psychosis" EXACT [] synonym: "Drug-induced psychotic disorder" EXACT [] xref: ICD9CM:292.1 xref: MESH:D011605 xref: SNOMEDCT_US_2023_03_01:191498001 xref: UMLS_CUI:C0033937 is_a: DOID:1203 ! drug-induced mental disorder [Term] id: DOID:1744 name: obsolete malignant lymphatic vessel tumor synonym: "Lymphatic vessel tumor (morphologic abnormality)" EXACT [] synonym: "Lymphatic vessel tumor (qualifier value)" EXACT [] synonym: "Lymphatic vessel tumor NOS (morphologic abnormality)" EXACT [] synonym: "neoplasm of the Lymphatic Vessel" EXACT [] is_obsolete: true [Term] id: DOID:1748 name: conjunctival squamous cell carcinoma def: "A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19883851, url:https\://www.ncbi.nlm.nih.gov/pubmed/27584160] subset: NCIthesaurus synonym: "Conjunctival Epidermoid carcinoma" EXACT [] synonym: "invasive squamous cell carcinoma of the conjunctiva" EXACT [] synonym: "ocular surface squamous neoplasia" EXACT [] synonym: "squamous cell carcinoma of conjunctiva" EXACT [] xref: NCI:C4549 xref: SNOMEDCT_US_2023_03_01:255003007 xref: UMLS_CUI:C0346359 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:5467 ! conjunctival cancer [Term] id: DOID:1749 name: squamous cell carcinoma alt_id: DOID:5512 def: "A carcinoma that derives_from squamous epithelial cells." [url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "epidermoid carcinoma" EXACT [] synonym: "malignant squamous cell tumor" EXACT [] synonym: "squamous carcinoma" EXACT [] synonym: "squamous cell cancer" EXACT [] synonym: "squamous cell Epithelioma" EXACT [] xref: EFO:0000707 xref: GARD:1091 xref: ICDO:8070/3 xref: MESH:D002294 xref: MESH:D018307 xref: NCI:C2929 xref: SNOMEDCT_US_2023_03_01:1255006006 xref: SNOMEDCT_US_2023_03_01:154605007 xref: UMLS_CUI:C0007137 xref: UMLS_CUI:C0751688 is_a: DOID:305 ! carcinoma [Term] id: DOID:175 name: vascular cancer alt_id: DOID:3339 alt_id: DOID:5454 alt_id: DOID:5548 alt_id: DOID:7019 alt_id: DOID:7020 alt_id: DOID:7392 def: "A cardiovascular cancer that is located_in blood vessels." [url:http\://en.wikipedia.org/wiki/Vascular] subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "blood vessel neoplasm" EXACT [] synonym: "Blood vessel tumor" EXACT [] synonym: "Blood vessel tumors" EXACT [] synonym: "Blood vessel tumour disorder" EXACT [] synonym: "Haemangiomatous tumour" EXACT [] synonym: "leiomyosarcoma of the renal Vein" EXACT [] synonym: "malignant great vessel tumor" EXACT [] synonym: "malignant tumor of pulmonary artery" EXACT [] synonym: "malignant tumor of pulmonary Vein" EXACT [] synonym: "malignant vascular neoplasm" EXACT [] synonym: "malignant vascular tumor" EXACT [] synonym: "neoplasm of great vessel" EXACT [] synonym: "pulmonary artery malignant neoplasm" EXACT [] synonym: "pulmonary vein malignant neoplasm" EXACT [] synonym: "renal vein leiomyosarcoma" EXACT [] synonym: "vascular tissue neoplasm" EXACT [] synonym: "vascular tumors" EXACT [] xref: MESH:D019043 xref: NCI:C5348 xref: NCI:C5380 xref: NCI:C5383 xref: NCI:C5388 xref: NCI:C7390 xref: SNOMEDCT_US_2023_03_01:126737003 xref: SNOMEDCT_US_2023_03_01:93817006 xref: UMLS_CUI:C0282607 xref: UMLS_CUI:C0346845 xref: UMLS_CUI:C1290407 xref: UMLS_CUI:C1334616 xref: UMLS_CUI:C1334617 xref: UMLS_CUI:C1334630 xref: UMLS_CUI:C1335753 is_a: DOID:176 ! cardiovascular cancer is_a: DOID:178 ! vascular disease [Term] id: DOID:1751 name: malignant conjunctival melanoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Conjunctival melanoma" EXACT [] synonym: "malignant melanoma of conjunctiva" EXACT [] xref: NCI:C4550 xref: SNOMEDCT_US_2023_03_01:255004001 xref: UMLS_CUI:C0346360 is_a: DOID:5467 ! conjunctival cancer [Term] id: DOID:1752 name: ocular melanoma def: "An ocular cancer that has_material_basis_in melanocytes and is located_in the eye." [url:http\://www.cancer.gov/dictionary?CdrID=269467] subset: DO_cancer_slim subset: DO_rare_slim synonym: "eye melanoma" EXACT [] synonym: "intraocular melanoma" EXACT [] synonym: "melanoma of eye" EXACT [] xref: GARD:7236 xref: GARD:8621 is_a: DOID:2174 ! ocular cancer [Term] id: DOID:1754 name: mitral valve stenosis def: "A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart." [url:http\://en.wikipedia.org/wiki/Mitral_valve_stenosis] subset: NCIthesaurus synonym: "Mitral stenosis" EXACT [] xref: MESH:D008946 xref: NCI:C50654 xref: SNOMEDCT_US_2023_03_01:79619009 xref: UMLS_CUI:C0026269 is_a: DOID:61 ! mitral valve disease [Term] id: DOID:1756 name: facial nerve disease def: "A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve." [url:https\://ent.uci.edu/more-at-uc-irvine/conditions/facial-nerve-disorders.asp] subset: NCIthesaurus xref: ICD10CM:G51 xref: ICD9CM:351 xref: MESH:D005155 xref: NCI:C27594 xref: SNOMEDCT_US_2023_03_01:90039006 xref: UMLS_CUI:C0015464 is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:1757 name: facial hemiatrophy comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "PARRY-ROMBERG SYNDROME" EXACT [] xref: MESH:D005150 xref: MIM:141300 xref: NCI:C84703 xref: SNOMEDCT_US_2023_03_01:29868009 xref: UMLS_CUI:C0015458 is_a: DOID:1756 ! facial nerve disease [Term] id: DOID:1758 name: obsolete Histoplasma capsulatum pneumonia def: "An American histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain." [url:http\://www.springerlink.com/content/dl7677h135470438/fulltext.pdf] is_obsolete: true [Term] id: DOID:1759 name: American histoplasmosis def: "A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss of appetite and has symptom muscle pains." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16940867] subset: DO_infectious_disease_slim xref: ICD10CM:B39.4 xref: ICD9CM:115.0 xref: MESH:D006660 xref: SNOMEDCT_US_2023_03_01:187036002 xref: UMLS_CUI:C0153261 is_a: DOID:1731 ! histoplasmosis [Term] id: DOID:176 name: cardiovascular cancer def: "An organ system cancer that located_in the heart and blood vessels." [url:http\://www.cancer.gov/dictionary?CdrID=44005, url:https\://www.ncbi.nlm.nih.gov/books/NBK537144/] subset: NCIthesaurus synonym: "cardiovascular neoplasm" EXACT [] synonym: "Cardiovascular tumors" EXACT [] xref: NCI:C4784 xref: SNOMEDCT_US_2023_03_01:721573003 xref: UMLS_CUI:C0497243 is_a: DOID:0050686 ! organ system cancer is_a: DOID:1287 ! cardiovascular system disease [Term] id: DOID:1760 name: facial nerve neoplasm subset: NCIthesaurus synonym: "neoplasm of facial nerve" EXACT [] synonym: "tumor of Facial nerve" EXACT [] xref: NCI:C5827 xref: SNOMEDCT_US_2023_03_01:126973004 xref: UMLS_CUI:C1263899 is_a: DOID:3417 ! glossopharyngeal nerve neoplasm [Term] id: DOID:1761 name: Melkersson-Rosenthal syndrome comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal" EXACT [] synonym: "Melkersson's syndrome" EXACT [] xref: GARD:7010 xref: ICD10CM:G51.2 xref: MESH:D008556 xref: MIM:155900 xref: NCI:C84886 xref: SNOMEDCT_US_2023_03_01:2511001 xref: UMLS_CUI:C0025235 is_a: DOID:1756 ! facial nerve disease [Term] id: DOID:1762 name: cheilitis def: "A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa." [url:http\://en.wikipedia.org/wiki/Cheilitis] subset: NCIthesaurus xref: ICD10CM:K13.0 xref: MESH:D002613 xref: NCI:C79545 xref: SNOMEDCT_US_2023_03_01:155664000 xref: UMLS_CUI:C0007971 is_a: DOID:9297 ! lip disease property_value: exactMatch "MESH:D002613" xsd:string [Term] id: DOID:1766 name: factitious disorder def: "A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness." [url:http\://en.wikipedia.org/wiki/Factitious_disorder, url:http\://my.clevelandclinic.org/disorders/factitious_disorders/hic_an_overview_of_factitious_disorders.aspx] synonym: "Munchausen syndrome" EXACT [] xref: ICD9CM:300.16 xref: SNOMEDCT_US_2023_03_01:430751001 xref: UMLS_CUI:C0015481 is_a: DOID:150 ! disease of mental health [Term] id: DOID:1768 name: conversion disorder def: "A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause." [url:http\://en.wikipedia.org/wiki/Conversion_disorder] subset: DO_rare_slim synonym: "Conversion hysteria or reaction" EXACT [] synonym: "Conversion Hysterical Neurosis" EXACT [] synonym: "Hysterical neurosis, conversion type" EXACT [] xref: GARD:6191 xref: ICD10CM:F44 xref: ICD9CM:300.11 xref: MESH:D003291 xref: SNOMEDCT_US_2023_03_01:20734000 xref: UMLS_CUI:C0009946 is_a: DOID:4737 ! somatoform disorder [Term] id: DOID:1770 name: toxic megacolon xref: ICD10CM:K59.31 xref: MESH:D008532 xref: SNOMEDCT_US_2023_03_01:28536002 xref: UMLS_CUI:C0025162 is_a: DOID:11372 ! megacolon [Term] id: DOID:1776 name: labyrinthine unilateral reactive loss synonym: "Loss of labyrinthine reactivity, unilateral" EXACT [] synonym: "Unilateral loss of labyrinthine reactivity" EXACT [] xref: ICD9CM:386.55 xref: SNOMEDCT_US_2023_03_01:43000004 xref: UMLS_CUI:C0155519 is_a: DOID:566 ! labyrinthine dysfunction [Term] id: DOID:1777 name: unilateral hyperactive labyrinth synonym: "hyperactive labyrinth, unilateral" EXACT [] synonym: "hyperactive unilateral labyrinthine dysfunction" EXACT [] xref: ICD9CM:386.51 xref: SNOMEDCT_US_2023_03_01:194372007 xref: UMLS_CUI:C0155515 is_a: DOID:566 ! labyrinthine dysfunction [Term] id: DOID:178 name: vascular disease alt_id: DOID:0000405 alt_id: DOID:2403 alt_id: DOID:2869 alt_id: DOID:324 alt_id: DOID:325 alt_id: DOID:45 def: "A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart." [url:http\://en.wikipedia.org/wiki/Vascular_disease] subset: DO_RAD_slim subset: NCIthesaurus synonym: "vascular tissue disease" EXACT [] xref: ICD10CM:I72.9 xref: ICD9CM:442.9 xref: MESH:D000783 xref: MESH:D014652 xref: MESH:D020758 xref: MESH:D020760 xref: NCI:C26693 xref: NCI:C35117 xref: SNOMEDCT_US_2023_03_01:27550009 xref: SNOMEDCT_US_2023_03_01:371029002 xref: SNOMEDCT_US_2023_03_01:432119003 xref: UMLS_CUI:C0002940 xref: UMLS_CUI:C0042373 xref: UMLS_CUI:C0752127 xref: UMLS_CUI:C0752130 is_a: DOID:1287 ! cardiovascular system disease [Term] id: DOID:1781 name: thyroid cancer alt_id: DOID:10008 def: "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." [url:http\://en.wikipedia.org/wiki/Thyroid_gland, url:https\://pubmed.ncbi.nlm.nih.gov/35288841/] subset: DO_cancer_slim subset: DO_CFDE_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "malignant neoplasm of thyroid gland" EXACT [] synonym: "malignant tumour of thyroid gland" EXACT [] synonym: "neoplasm of thyroid gland" EXACT [] synonym: "thyroid gland cancer" EXACT [] synonym: "Thyroid gland neoplasm" EXACT [] synonym: "thyroid neoplasm" EXACT [] xref: ICD10CM:C73 xref: ICD9CM:193 xref: KEGG:05216 xref: MESH:D013964 xref: NCI:C3414 xref: NCI:C7510 xref: SNOMEDCT_US_2023_03_01:127018007 xref: SNOMEDCT_US_2023_03_01:94098005 xref: UMLS_CUI:C0007115 xref: UMLS_CUI:C0040136 is_a: DOID:170 ! endocrine gland cancer is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:1785 name: pituitary cancer alt_id: DOID:5671 def: "An endocrine gland cancer located_in the pituitary gland located at the base of the brain." [url:http\://en.wikipedia.org/wiki/Pituitary_gland] subset: DO_rare_slim subset: NCIthesaurus synonym: "malignant Pituitary neoplasm" EXACT [] synonym: "malignant tumor of pituitary gland" EXACT [] synonym: "neoplasm of pituitary gland" EXACT [] synonym: "pituitary gland cancer" EXACT [] synonym: "Pituitary gland neoplasm" EXACT [] synonym: "pituitary neoplasm" EXACT [] xref: GARD:9371 xref: ICD10CM:C75.1 xref: MESH:D010911 xref: NCI:C3330 xref: NCI:C4769 xref: SNOMEDCT_US_2023_03_01:127024001 xref: SNOMEDCT_US_2023_03_01:93964007 xref: UMLS_CUI:C0032019 xref: UMLS_CUI:C0496842 is_a: DOID:170 ! endocrine gland cancer is_a: DOID:53 ! pituitary gland disease [Term] id: DOID:1786 name: adrenal rest tumor subset: NCIthesaurus synonym: "Adrenal Rest neoplasm" EXACT [] xref: ICDO:8671/0 xref: MESH:D000314 xref: NCI:C2860 xref: SNOMEDCT_US_2023_03_01:54292009 xref: UMLS_CUI:C0001630 is_a: DOID:0060089 ! endocrine organ benign neoplasm property_value: exactMatch "MESH:D000314" xsd:string [Term] id: DOID:1787 name: pericarditis def: "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." [url:http\://en.wikipedia.org/wiki/Pericarditis] subset: DO_RAD_slim subset: NCIthesaurus xref: MESH:D010493 xref: NCI:C34915 xref: SNOMEDCT_US_2023_03_01:3238004 xref: UMLS_CUI:C0031046 is_a: DOID:0050829 ! pericardium disease [Term] id: DOID:1788 name: peritoneal mesothelioma alt_id: DOID:0050874 alt_id: DOID:7954 def: "A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum." [url:http\://en.wikipedia.org/wiki/Mesothelioma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Advanced malignant Mesothelioma of Peritoneum" EXACT [] synonym: "advanced malignant peritoneal mesothelioma" EXACT [] synonym: "malignant mesothelioma of peritoneum" EXACT [] xref: ICD10CM:C45.1 xref: NCI:C8704 xref: NCI:C9350 xref: SNOMEDCT_US_2023_03_01:187806007 xref: UMLS_CUI:C0346109 xref: UMLS_CUI:C0854886 is_a: DOID:1725 ! peritoneum cancer is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:1789 name: benign peritoneal mesothelioma subset: NCIthesaurus synonym: "Mesothelioma of Peritoneum" EXACT [] xref: NCI:C7633 xref: UMLS_CUI:C1377610 is_a: DOID:0060117 ! peritoneal benign neoplasm [Term] id: DOID:1790 name: malignant mesothelioma alt_id: DOID:4487 alt_id: DOID:6965 alt_id: DOID:7434 def: "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs." [url:http\://cancergenome.nih.gov/cancersselected/Mesothelioma, url:http\://www.cancer.gov/dictionary?CdrID=44323, url:http\://www.merriam-webster.com/medlineplus/mesothelioma, url:https\://en.wikipedia.org/wiki/Mesothelioma] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: NCIthesaurus synonym: "advanced malignant mesothelioma" EXACT [] synonym: "asbestos-related malignant mesothelioma" EXACT [] synonym: "Diffuse malignant Mesothelioma" EXACT [] synonym: "malignant tumor of Mesothelium" EXACT [] xref: MESH:D000086002 xref: MIM:156240 xref: NCI:C27926 xref: NCI:C4456 xref: NCI:C7865 xref: NCI:C8420 xref: SNOMEDCT_US_2023_03_01:109378008 xref: UMLS_CUI:C0278752 xref: UMLS_CUI:C0345967 xref: UMLS_CUI:C0392400 xref: UMLS_CUI:C1332338 is_a: DOID:0050687 ! cell type cancer [Term] id: DOID:1791 name: peritoneal carcinoma def: "A peritoneum cancer that is located_in the inside of the abdomen." [url:https\://www.cedars-sinai.org/health-library/diseases-and-conditions/p/peritoneal-cancer.html] subset: NCIthesaurus synonym: "primary peritoneal carcinoma" EXACT [] xref: NCI:C40022 xref: UMLS_CUI:C1514428 is_a: DOID:1725 ! peritoneum cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:1792 name: pancreas lymphoma subset: NCIthesaurus synonym: "Lymphoma of pancreas" EXACT [] xref: NCI:C5714 xref: UMLS_CUI:C1335307 is_a: DOID:0060058 ! lymphoma is_a: DOID:1793 ! pancreatic cancer [Term] id: DOID:1793 name: pancreatic cancer alt_id: DOID:14356 alt_id: DOID:1797 alt_id: DOID:3588 alt_id: DOID:9859 def: "An endocrine gland cancer located_in the pancreas." [url:http\://en.wikipedia.org/wiki/Pancreatic] comment: Xref MGI. subset: DO_cancer_slim subset: DO_CFDE_slim subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "Ca body of pancreas" EXACT [] synonym: "Ca head of pancreas" EXACT [] synonym: "Ca tail of pancreas" EXACT [] synonym: "malignant neoplasm of body of pancreas" EXACT [] synonym: "malignant neoplasm of head of pancreas" EXACT [] synonym: "malignant neoplasm of tail of pancreas" EXACT [] synonym: "pancreas neoplasm" EXACT [] synonym: "pancreatic neoplasm" EXACT [] synonym: "pancreatic tumor" EXACT [] xref: GARD:9364 xref: ICD10CM:C25.0 xref: ICD10CM:C25.1 xref: ICD10CM:C25.2 xref: ICD9CM:157.0 xref: ICD9CM:157.1 xref: ICD9CM:157.2 xref: ICD9CM:157.8 xref: KEGG:05212 xref: MESH:D010190 xref: NCI:C3305 xref: ORDO:1333 xref: ORDO:217074 xref: SNOMEDCT_US_2023_03_01:126859007 xref: SNOMEDCT_US_2023_03_01:187796007 xref: SNOMEDCT_US_2023_03_01:93715005 xref: SNOMEDCT_US_2023_03_01:93823001 xref: SNOMEDCT_US_2023_03_01:94082003 xref: UMLS_CUI:C0030297 xref: UMLS_CUI:C0153458 xref: UMLS_CUI:C0153459 xref: UMLS_CUI:C0153460 xref: UMLS_CUI:C0153463 is_a: DOID:170 ! endocrine gland cancer is_a: DOID:26 ! pancreas disease [Term] id: DOID:1795 name: malignant exocrine pancreas neoplasm alt_id: DOID:1794 def: "A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7430] subset: DO_cancer_slim subset: NCIthesaurus synonym: "malignant neoplasm of the Exocrine pancreas" EXACT [] synonym: "malignant tumor of exocrine pancreas" EXACT [] synonym: "malignant tumour of exocrine pancreas" EXACT [] xref: NCI:C7430 xref: SNOMEDCT_US_2023_03_01:255088001 xref: UMLS_CUI:C0346648 is_a: DOID:1793 ! pancreatic cancer [Term] id: DOID:1796 name: pancreas sarcoma def: "A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin." [url:https\://brief.land/rro/articles/5126.html] subset: NCIthesaurus synonym: "sarcoma of pancreas" EXACT [] xref: NCI:C5715 xref: UMLS_CUI:C1096346 is_a: DOID:1115 ! sarcoma is_a: DOID:1793 ! pancreatic cancer [Term] id: DOID:1798 name: pancreatic endocrine carcinoma def: "An islet cell tumor that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "carcinoma of endocrine pancreas" EXACT [] synonym: "Islet cell carcinoma" EXACT [] synonym: "malignant neoplasm of islets of Langerhans" EXACT [] synonym: "pancreatic neuroendocrine carcinoma" EXACT [] xref: GARD:13034 xref: ICD10CM:C25.4 xref: ICD9CM:157.4 xref: MESH:D018273 xref: NCI:C3770 xref: SNOMEDCT_US_2023_03_01:254612002 xref: UMLS_CUI:C1328479 is_a: DOID:1799 ! islet cell tumor [Term] id: DOID:1799 name: islet cell tumor alt_id: DOID:10165 def: "A pancreatic cancer that is located_in the pancreatic islet cells." [url:http\://en.wikipedia.org/wiki/Islets_of_Langerhans, url:http\://en.wikipedia.org/wiki/Neuroendocrine_tumor] synonym: "endocrine pancreas cancer" EXACT [] synonym: "Islet cell neoplasm" EXACT [] synonym: "islet cell tumour" EXACT [] synonym: "malignant pancreatic Endocrine tumor" EXACT [] synonym: "malignant pancreatic Endocrine tumour" EXACT [] synonym: "malignant tumor of endocrine pancreas" EXACT [] synonym: "malignant tumour of endocrine pancreas" EXACT [] synonym: "pancreatic Endocrine neoplasm" EXACT [] xref: ICD10CM:C25.4 xref: ICD10CM:D13.7 xref: MESH:D007516 xref: SNOMEDCT_US_2023_03_01:254611009 xref: SNOMEDCT_US_2023_03_01:261713004 xref: UMLS_CUI:C0242363 xref: UMLS_CUI:C0496784 is_a: DOID:1793 ! pancreatic cancer [Term] id: DOID:18 name: urinary system disease alt_id: DOID:579 def: "A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra." [url:http\://en.wikipedia.org/wiki/Urinary_system] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim subset: NCIthesaurus synonym: "Non-neoplastic urinary tract disease" EXACT [] synonym: "urinary tract disease" EXACT [] xref: NCI:C27599 xref: UMLS_CUI:C1335051 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:180 name: ossifying fibroma def: "A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma." [url:http\://en.wikipedia.org/wiki/Ossifying_fibroma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Fibro-osteoma" EXACT [] synonym: "peripheral ossifying fibroma" RELATED [] xref: ICDO:9262/0 xref: MESH:D018214 xref: NCI:C8422 xref: SNOMEDCT_US_2023_03_01:189896007 xref: UMLS_CUI:C0206640 is_a: DOID:0060094 ! bone benign neoplasm [Term] id: DOID:1800 name: neuroendocrine carcinoma def: "A carcinoma that derives_from neuroendocrine cells." [url:https\://www.mayoclinic.org/diseases-conditions/neuroendocrine-tumors/symptoms-causes/syc-20354132] subset: NCIthesaurus xref: ICDO:8246/3 xref: MESH:D018278 xref: NCI:C3773 xref: SNOMEDCT_US_2023_03_01:55937004 xref: UMLS_CUI:C0206695 is_a: DOID:305 ! carcinoma [Term] id: DOID:1801 name: obsolete secondary malignant neoplasm to the pancreas synonym: "metastatic tumor to the pancreas" EXACT [] synonym: "secondary malignant neoplasm of pancreas (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1802 name: mononeuritis xref: ICD9CM:355.9 xref: MESH:D020422 xref: SNOMEDCT_US_2023_03_01:32595002 xref: UMLS_CUI:C0235880 is_a: DOID:1188 ! mononeuropathy [Term] id: DOID:1803 name: neuritis subset: NCIthesaurus synonym: "peripheral neuritis" EXACT [] xref: MESH:D009443 xref: NCI:C116381 xref: SNOMEDCT_US_2023_03_01:247378004 xref: UMLS_CUI:C0027813 is_a: DOID:870 ! neuropathy [Term] id: DOID:1804 name: obsolete coxsackie pericarditis def: "A coxsackie carditis that results_in inflammation located_in pericardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea." [url:http\://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_] is_obsolete: true [Term] id: DOID:1805 name: obsolete coxsackie carditis def: "An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions." [url:http\://books.google.com/books?id=VbjFQiz8aR0C&pg=RA1-PA1614&lpg#v=, url:http\://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_] synonym: "Enterovirus heart infection (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1806 name: obsolete coxsackie endocarditis def: "A coxsackie carditis that results_in inflammation located_in endocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions." [url:http\://books.google.com/books?id=c-dKGQ0uSioC&pg=PA200&lpg#v=onepage&q&f=false] is_obsolete: true [Term] id: DOID:1811 name: reflex sympathetic dystrophy comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus xref: ICD10CM:G90.5 xref: ICD9CM:337.2 xref: MESH:D012019 xref: MIM:604335 xref: NCI:C85042 xref: SNOMEDCT_US_2023_03_01:203492008 xref: UMLS_CUI:C0034931 is_a: DOID:3223 ! complex regional pain syndrome [Term] id: DOID:182 name: calcinosis def: "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue." [url:http\://en.wikipedia.org/wiki/Calcinosis] subset: NCIthesaurus synonym: "pathologic calcification" EXACT [] synonym: "Pathologically calcified structure" EXACT [] xref: MESH:D002114 xref: NCI:C3672 xref: SNOMEDCT_US_2023_03_01:237881004 xref: UMLS_CUI:C0006663 is_a: DOID:10575 ! calcium metabolism disease [Term] id: DOID:1822 name: secondary lacrimal atrophy xref: ICD10CM:H04.15 xref: ICD9CM:375.14 xref: SNOMEDCT_US_2023_03_01:193979004 xref: UMLS_CUI:C0339121 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:1823 name: obsolete petit mal status synonym: "Epileptic absence status" EXACT [] synonym: "Epileptic twilight state" EXACT [] synonym: "Petit mal status (disorder)" EXACT [] synonym: "Petit mal status, epileptic" EXACT [] is_obsolete: true [Term] id: DOID:1824 name: status epilepticus subset: DO_rare_slim subset: NCIthesaurus synonym: "Grand mal status" EXACT [] xref: GARD:10191 xref: MESH:D013226 xref: NCI:C85079 xref: SNOMEDCT_US_2023_03_01:155039002 xref: UMLS_CUI:C0038220 is_a: DOID:1826 ! epilepsy [Term] id: DOID:1825 name: childhood absence epilepsy def: "A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years." [url:http\://en.wikipedia.org/wiki/Childhood_absence_epilepsy] subset: NCIthesaurus synonym: "absence seizure" RELATED [] synonym: "petit mal seizure" EXACT [] synonym: "pyknolepsy" EXACT [] xref: MESH:D004832 xref: NCI:C3023 xref: SNOMEDCT_US_2023_03_01:163596002 xref: UMLS_CUI:C0014553 is_a: DOID:0050704 ! childhood electroclinical syndrome [Term] id: DOID:1826 name: epilepsy def: "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions." [url:http\://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false, url:http\://www.merriam-webster.com/medlineplus/epilepsy] subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "epilepsy syndrome" EXACT [] synonym: "epileptic syndrome" EXACT [] xref: EFO:0000474 xref: ICD10CM:G40 xref: ICD9CM:345.9 xref: MESH:D004827 xref: NCI:C3020 xref: SNOMEDCT_US_2023_03_01:267698007 xref: UMLS_CUI:C0014544 is_a: DOID:936 ! brain disease property_value: exactMatch "ICD10CM:G40" xsd:string property_value: narrowMatch "ICD10CM:G40.9" xsd:string property_value: narrowMatch "ICD10CM:G40.909" xsd:string [Term] id: DOID:1827 name: idiopathic generalized epilepsy def: "An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain." [url:http\://en.wikipedia.org/wiki/Epilepsy, url:http\://en.wikipedia.org/wiki/Generalized_epilepsy] comment: Xref MGI. subset: NCIthesaurus synonym: "Generalised epilepsy" EXACT [] xref: MESH:D004829 xref: MIM:600669 xref: NCI:C3021 xref: SNOMEDCT_US_2023_03_01:155043003 xref: UMLS_CUI:C0014548 is_a: DOID:1826 ! epilepsy [Term] id: DOID:1829 name: urethral stricture xref: ICD9CM:598.8 xref: UMLS_CUI:C0029752 is_a: DOID:12577 ! urethral obstruction property_value: exactMatch "MESH:D14525" xsd:string [Term] id: DOID:1832 name: obsolete Mild hyperemesis gravidarum alt_id: DOID:13012 alt_id: DOID:1831 synonym: "Mild hyperemesis gravidarum, antepartum" EXACT [] synonym: "Mild hyperemesis gravidarum, delivered" EXACT [] is_obsolete: true [Term] id: DOID:1835 name: mononeuritis multiplex subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7056 xref: ICD10CM:G58.7 xref: ICD9CM:354.5 xref: MESH:D020422 xref: NCI:C70938 xref: SNOMEDCT_US_2023_03_01:30292005 xref: UMLS_CUI:C0151295 is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex [Term] id: DOID:1837 name: diabetic ketoacidosis def: "A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus." [url:https\://medlineplus.gov/ency/article/000320.htm, url:https\://www.mayoclinic.org/diseases-conditions/diabetic-ketoacidosis/symptoms-causes/syc-20371551] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "DIABETES MELLITUS, KETOSIS-PRONE" EXACT [] synonym: "ketosis-prone diabetes mellitus" EXACT [] xref: ICD9CM:250.1 xref: MESH:D016883 xref: MIM:612227 xref: NCI:C50530 xref: SNOMEDCT_US_2023_03_01:154671004 xref: UMLS_CUI:C0011880 is_a: DOID:0050758 ! metabolic acidosis [Term] id: DOID:1838 name: Menkes disease comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "COPPER TRANSPORT DISEASE" EXACT [] synonym: "Menkes kinky-hair syndrome" EXACT [] synonym: "steely hair syndrome" EXACT [] xref: GARD:1521 xref: MESH:D007706 xref: MIM:309400 xref: NCI:C75486 xref: SNOMEDCT_US_2023_03_01:59178007 xref: UMLS_CUI:C0022716 is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:184 name: bone cancer alt_id: DOID:3348 def: "A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue." [url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/bone, url:http\://www.cancer.gov/cancertopics/types/bone] subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "bone neoplasm" EXACT [] synonym: "bone tumour" EXACT [] synonym: "CA - bone cancer" EXACT [] synonym: "malignant bone neoplasm" EXACT [] synonym: "malignant bone tumour" EXACT [] synonym: "malignant neoplasm of bone" EXACT [] synonym: "malignant osseous tumor" EXACT [] synonym: "neoplasm of bone" EXACT [] synonym: "osseous tumor" EXACT [] xref: MESH:D001859 xref: NCI:C9343 xref: SNOMEDCT_US_2023_03_01:126537000 xref: UMLS_CUI:C0005967 is_a: DOID:0080001 ! bone disease is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:1844 name: mononeuritis of upper limb synonym: "Mononeuritis upper limb" EXACT [] xref: ICD9CM:354.9 xref: SNOMEDCT_US_2023_03_01:58850003 xref: UMLS_CUI:C0154746 is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex [Term] id: DOID:1845 name: obsolete Strongylida infectious disease def: "A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida." [url:http\://en.wikipedia.org/wiki/Strongylida] is_obsolete: true [Term] id: DOID:1849 name: cannabis dependence def: "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Cannabis_dependence] subset: NCIthesaurus xref: ICD10CM:F12.2 xref: ICD9CM:304.3 xref: MESH:D002189 xref: NCI:C34445 xref: SNOMEDCT_US_2023_03_01:268766005 xref: UMLS_CUI:C0006870 is_a: DOID:9977 ! hallucinogen dependence [Term] id: DOID:1852 name: intrahepatic cholestasis def: "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver." [url:https\://medlineplus.gov/ency/article/000215.htm] comment: Xref MGI. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "neonatal intrahepatic cholestasis" EXACT [] xref: GARD:10214 xref: MESH:D002780 xref: NCI:C84400 xref: ORDO:284385 xref: SNOMEDCT_US_2023_03_01:4637005 xref: UMLS_CUI:C0008372 is_a: DOID:13580 ! cholestasis [Term] id: DOID:1856 name: cherubism def: "A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10364528, url:https\://www.ncbi.nlm.nih.gov/pubmed/11381256] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6036 xref: ICD10CM:M27.8 xref: MESH:D002636 xref: MIM:118400 xref: NCI:C84630 xref: SNOMEDCT_US_2023_03_01:76098004 xref: UMLS_CUI:C0008029 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:37 ! skin disease [Term] id: DOID:1858 name: McCune Albright syndrome alt_id: DOID:11345 def: "A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and cafĂ©-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis." [url:http\://en.wikipedia.org/wiki/McCune%E2%80%93Albright_syndrome, url:http\://ghr.nlm.nih.gov/condition/mccune-albright-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK537092/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "fibrous dysplasia of bone" EXACT [] synonym: "osteitis fibrosa disseminata" EXACT [] synonym: "polyostotic fibrous dysplasia" EXACT [] xref: GARD:6995 xref: ICD10CM:Q78.1 xref: ICD9CM:756.54 xref: MESH:D005359 xref: MIM:174800 xref: NCI:C34610 xref: SNOMEDCT_US_2023_03_01:205508003 xref: UMLS_CUI:C0016065 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:D005359" xsd:string [Term] id: DOID:1862 name: jaw cancer def: "A bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone." [url:https\://www.mayoclinic.org/diseases-conditions/jaw-tumors-cysts/symptoms-causes/syc-20350973] synonym: "jaw neoplasm" RELATED [] synonym: "neoplasm of jaw" EXACT [] xref: MESH:D007573 xref: SNOMEDCT_US_2023_03_01:126634001 xref: UMLS_CUI:C0022364 is_a: DOID:184 ! bone cancer [Term] id: DOID:1863 name: skull cancer subset: NCIthesaurus xref: MESH:D012888 xref: NCI:C3375 xref: SNOMEDCT_US_2023_03_01:126538005 xref: UMLS_CUI:C0037305 is_a: DOID:184 ! bone cancer [Term] id: DOID:1866 name: giant cell reparative granuloma subset: NCIthesaurus synonym: "central giant cell (reparative) granuloma" EXACT [] synonym: "central giant cell granuloma" EXACT [] synonym: "central giant cell reparative granuloma of jaw" EXACT [] xref: ICD10CM:M27.1 xref: ICD9CM:526.3 xref: MESH:D006101 xref: NCI:C173930 xref: SNOMEDCT_US_2023_03_01:15350006 xref: UMLS_CUI:C0162375 is_a: DOID:4305 ! bone giant cell tumor [Term] id: DOID:1869 name: chronic rheumatic pericarditis xref: ICD10CM:I09.2 xref: ICD9CM:393 xref: SNOMEDCT_US_2023_03_01:194719006 xref: UMLS_CUI:C0155561 is_a: DOID:1787 ! pericarditis [Term] id: DOID:1873 name: obsolete abortion complicated by metabolic disorder is_obsolete: true [Term] id: DOID:1875 name: impotence def: "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity." [url:https\://www.mayoclinic.org/diseases-conditions/erectile-dysfunction/symptoms-causes/syc-20355776] subset: NCIthesaurus synonym: "erectile dysfunction" EXACT [] synonym: "Sexual impotence" EXACT [] xref: EFO:0004234 xref: NCI:C3133 is_a: DOID:1876 ! sexual dysfunction [Term] id: DOID:1876 name: sexual dysfunction def: "A male reproductive system disease that is characterized by disturbances in sexual desire or performance." [url:https\://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction] subset: NCIthesaurus xref: ICD10CM:F52.9 xref: NCI:C3347 xref: SNOMEDCT_US_2023_03_01:39894007 xref: UMLS_CUI:C0549622 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:1882 name: atrial heart septal defect def: "A heart septal defect located_in in the septum that separates the two atria of the heart." [url:https\://en.wikipedia.org/wiki/Atrial_septal_defect] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "atrial septal defect" EXACT [] synonym: "atrioseptal defect" EXACT [] synonym: "auricular septal defect" EXACT [] synonym: "congenital atrial septal defect" EXACT [] synonym: "interatrial septal defect" EXACT [] synonym: "interauricular septal defect" EXACT [] xref: ICD10CM:Q21.1 xref: MESH:D006344 xref: MIM:PS108800 xref: NCI:C84473 xref: ORDO:1478 xref: SNOMEDCT_US_2023_03_01:156915002 xref: UMLS_CUI:C0018817 is_a: DOID:1681 ! heart septal defect [Term] id: DOID:1883 name: hepatitis C alt_id: DOID:12430 alt_id: DOID:12432 alt_id: DOID:2049 def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepacivirus hominis, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." [url:http\://www.cdc.gov/hepatitis/HCV/index.htm, url:http\://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf, url:http\://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "chronic hepatitis C" EXACT [] synonym: "hepatitis C infection" EXACT [] synonym: "hepatitis nonA nonB" EXACT [] synonym: "NANBH" EXACT OMO:0003012 [] synonym: "Viral hepatitis C" EXACT [] xref: EFO:0003047 xref: ICD10CM:B19.20 xref: ICD9CM:070.7 xref: MESH:D006526 xref: NCI:C3098 xref: SNOMEDCT_US_2023_03_01:154349000 xref: UMLS_CUI:C0019196 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:1884 name: viral hepatitis alt_id: DOID:12548 alt_id: DOID:1331 alt_id: DOID:1885 def: "A hepatitis that involves viral infection causing inflammation of the liver." [url:http\://www.cdc.gov/HEPATITIS/] subset: DO_infectious_disease_slim synonym: "animal viral hepatitis" EXACT [] synonym: "human viral hepatitis" EXACT [] synonym: "Viral hepatitis with hepatic coma" EXACT [] xref: MESH:D006524 xref: UMLS_CUI:C0019194 is_a: DOID:2237 ! hepatitis is_a: DOID:934 ! viral infectious disease [Term] id: DOID:1886 name: obsolete Flaviviridae infectious disease def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors." [url:http\://en.wikipedia.org/wiki/Flaviviridae] is_obsolete: true [Term] id: DOID:1891 name: optic nerve disease def: "A cranial nerve disease that is located_in the optic nerve." [url:http\://www.academy.org.uk/lectures/barnard3.htm, url:http\://www.nature.com/eye/journal/v18/n11/full/6701575a.html] subset: NCIthesaurus synonym: "disorder of the second nerve" EXACT [] synonym: "optic nerve disorder" EXACT [] synonym: "optic neuropathy" EXACT [] xref: MESH:D009901 xref: NCI:C79698 xref: SNOMEDCT_US_2023_03_01:77157004 xref: UMLS_CUI:C0029132 is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:1893 name: eczematous dermatitis of eyelid xref: ICD10CM:H01.13 xref: ICD9CM:373.31 xref: SNOMEDCT_US_2023_03_01:36259009 xref: UMLS_CUI:C0155177 is_a: DOID:1894 ! noninfectious dermatoses of eyelid [Term] id: DOID:1894 name: noninfectious dermatoses of eyelid synonym: "Non-infected eyelid dermatoses" EXACT [] xref: ICD10CM:H01.1 xref: ICD9CM:373.3 xref: SNOMEDCT_US_2023_03_01:111524003 xref: UMLS_CUI:C0155176 is_a: DOID:9423 ! blepharitis [Term] id: DOID:1895 name: allergic contact dermatitis of eyelid def: "A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant." [url:https\://en.wikipedia.org/wiki/Allergic_contact_dermatitis] synonym: "Contact and allergic dermatitis of eyelid" EXACT [] xref: ICD9CM:373.32 xref: SNOMEDCT_US_2023_03_01:402249007 xref: UMLS_CUI:C0155178 is_a: DOID:1205 ! allergic disease is_a: DOID:1894 ! noninfectious dermatoses of eyelid [Term] id: DOID:1896 name: sigmoid neoplasm synonym: "neoplasm of sigmoid colon" EXACT [] synonym: "tumor of sigmoid colon" EXACT [] xref: MESH:D012811 xref: SNOMEDCT_US_2023_03_01:254581007 xref: UMLS_CUI:C0037073 is_a: DOID:235 ! colonic benign neoplasm [Term] id: DOID:1897 name: sigmoid disease xref: MESH:D012810 xref: UMLS_CUI:C0037072 is_a: DOID:5353 ! colonic disease [Term] id: DOID:1901 name: vagina sarcoma def: "A vaginal cancer that has_material_basis_in connective tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21816677] subset: DO_cancer_slim subset: NCIthesaurus synonym: "sarcoma of the vagina" EXACT [] xref: NCI:C7737 xref: UMLS_CUI:C0238519 is_a: DOID:1115 ! sarcoma is_a: DOID:119 ! vaginal cancer [Term] id: DOID:1906 name: malignant skin fibrous histiocytoma subset: NCIthesaurus synonym: "malignant fibrous histiocytoma of skin" EXACT [] synonym: "vaginal melanoma" EXACT [] xref: NCI:C5576 xref: SNOMEDCT_US_2023_03_01:404014008 xref: UMLS_CUI:C1275254 is_a: DOID:5274 ! malignant dermis tumor [Term] id: DOID:1907 name: malignant fibrous histiocytoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Fibroxanthosarcoma" EXACT [] synonym: "MFH" EXACT OMO:0003012 [] xref: ICDO:8830/3 xref: MESH:D051677 xref: NCI:C4247 xref: SNOMEDCT_US_2023_03_01:34360000 xref: UMLS_CUI:C0334463 is_a: DOID:1115 ! sarcoma [Term] id: DOID:1908 name: obsolete cutaneous fibrohistiocytic neoplasm is_obsolete: true [Term] id: DOID:1909 name: melanoma def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye." [url:http\://en.wikipedia.org/wiki/Melanoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/22123420] subset: DO_cancer_slim subset: DO_RAD_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "malignant melanoma" EXACT [] synonym: "Naevocarcinoma" EXACT [] xref: EFO:0000756 xref: ICDO:8720/3 xref: KEGG:05218 xref: MESH:D008545 xref: NCI:C3224 xref: SNOMEDCT_US_2023_03_01:2092003 xref: UMLS_CUI:C0025202 is_a: DOID:0050687 ! cell type cancer property_value: exactMatch "MESH:D008545" xsd:string [Term] id: DOID:1910 name: vaginal yolk sac tumor def: "A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30814243] subset: NCIthesaurus synonym: "vaginal endodermal sinus neoplasm" EXACT [] synonym: "vaginal Yolk Sac neoplasm" EXACT [] xref: NCI:C6379 xref: UMLS_CUI:C1336945 is_a: DOID:119 ! vaginal cancer [Term] id: DOID:1911 name: endodermal sinus tumor def: "A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo." [url:http\://en.wikipedia.org/wiki/Endodermal_sinus_tumor, url:http\://en.wikipedia.org/wiki/Germ_cell_tumor, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=876, url:https\://www.cincinnatichildrens.org/health/y/yolk-sac/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "endodermal sinus tumour" EXACT [] synonym: "Hepatoid yolk sac tumour" EXACT [] synonym: "infantile embryonal carcinoma" EXACT [] synonym: "Yolk Sac neoplasm" EXACT [] synonym: "yolk sac tumor" EXACT [] synonym: "Yolk sac tumour" EXACT [] xref: ICDO:9071/3 xref: MESH:D018240 xref: NCI:C3011 xref: SNOMEDCT_US_2023_03_01:74409009 xref: UMLS_CUI:C0014145 is_a: DOID:2994 ! germ cell cancer [Term] id: DOID:1912 name: obsolete metastasis to vagina synonym: "secondary malignant neoplasm of vagina (disorder)" EXACT [] synonym: "secondary tumor to the vagina" EXACT [] is_obsolete: true [Term] id: DOID:1913 name: obsolete alternating exotropia with A pattern synonym: "Alternating exotropia with A pattern (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1919 name: Lesch-Nyhan syndrome def: "A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26." [url:https\://pubmed.ncbi.nlm.nih.gov/31182398/] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Complete hypoxanthine-guanine phosphoribosyltransferase deficiency" EXACT [] synonym: "deficiency of IMP pyrophosphorylase" EXACT [] synonym: "HG-PRT deficiency" EXACT [] synonym: "HPRT1 deficiency" EXACT [] synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency" EXACT [] synonym: "Hypoxanthine-guanine phosphoribosyltransferase deficiency" EXACT [] synonym: "Hypoxanthine-guanine-phosphoribosyltransferase deficiency" EXACT [] synonym: "Lesch - Nyhan syndrome" EXACT [] synonym: "X-linked hyperuricemia" EXACT [] xref: ICD10CM:E79.1 xref: MESH:D007926 xref: MIM:300322 xref: NCI:C61255 xref: SNOMEDCT_US_2023_03_01:190918000 xref: UMLS_CUI:C0023374 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:192 name: sex cord-gonadal stromal tumor alt_id: DOID:12293 def: "A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts." [url:http\://en.wikipedia.org/wiki/Sex_cord-gonadal_stromal_tumour] subset: NCIthesaurus synonym: "Sex cord stromal tumour" EXACT [] synonym: "sex cord-gonadal stromal tumour" EXACT [] synonym: "Sex Cord-Stromal neoplasm" EXACT [] synonym: "Specialized gonadal neoplasm" EXACT [] synonym: "Specialized gonadal tumor" EXACT [] synonym: "Specialized gonadal tumour" EXACT [] xref: ICDO:8590/1 xref: MESH:D018312 xref: NCI:C3794 xref: SNOMEDCT_US_2023_03_01:253028001 xref: UMLS_CUI:C0206724 is_a: DOID:193 ! reproductive organ cancer [Term] id: DOID:1920 name: hyperuricemia def: "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood." [url:http\://en.wikipedia.org/wiki/Hyperuricemia] subset: NCIthesaurus synonym: "Blood urate raized" EXACT [] synonym: "uricacidemia" EXACT [] xref: MESH:D033461 xref: NCI:C3961 xref: SNOMEDCT_US_2023_03_01:271198001 xref: UMLS_CUI:C0740394 is_a: DOID:0060158 ! acquired metabolic disease [Term] id: DOID:1921 name: Klinefelter syndrome def: "A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men." [url:https\://ghr.nlm.nih.gov/condition/klinefelter-syndrome, url:https\://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome] comment: No OMIM mapping, confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "47, XXY" EXACT [] synonym: "Hypogonadotropic Hypogonadism" EXACT [] synonym: "Klinefelter's syndrome" EXACT [] synonym: "XXY syndrome" EXACT [] synonym: "XXY trisomy" EXACT [] xref: GARD:8705 xref: ICD10CM:Q98.0 xref: ICD9CM:758.7 xref: MESH:D007713 xref: NCI:C34752 xref: SNOMEDCT_US_2023_03_01:405770005 xref: UMLS_CUI:C0022735 is_a: DOID:0060429 ! chromosomal duplication syndrome [Term] id: DOID:1922 name: obsolete endocrine syndrome is_obsolete: true [Term] id: DOID:1923 name: disorder of sexual development def: "A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976999/] synonym: "sex development disorder" EXACT [] synonym: "sex differentiation disease" EXACT [] xref: MESH:D012734 xref: UMLS_CUI:C0036875 is_a: DOID:2277 ! gonadal disease [Term] id: DOID:1924 name: hypogonadism def: "A gonadal disease that is characterized by diminished functional activity of the gonads." [url:https\://en.wikipedia.org/wiki/Hypogonadism] subset: NCIthesaurus xref: MESH:D007006 xref: MIM:241100 xref: NCI:C9227 xref: SNOMEDCT_US_2023_03_01:48130008 xref: UMLS_CUI:C0020619 is_a: DOID:2277 ! gonadal disease [Term] id: DOID:1925 name: Coffin-Siris syndrome def: "An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails." [url:http\://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome, url:http\://ghr.nlm.nih.gov/condition/coffin-siris-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1465] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Dwarfism-Onychodysplasia" EXACT [] synonym: "Fifth Digit Syndrome" EXACT [] synonym: "Short Stature-Onychodysplasia." EXACT [] xref: GARD:6124 xref: MESH:C536436 xref: MIM:PS135900 xref: NCI:C35321 xref: ORDO:1465 xref: SNOMEDCT_US_2023_03_01:10007009 xref: UMLS_CUI:C0265338 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:225 ! syndrome [Term] id: DOID:1926 name: Gaucher's disease def: "A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver." [url:http\://en.wikipedia.org/wiki/Gaucher%27s_disease, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "acid beta-glucosidase deficiency" EXACT [] synonym: "Gaucher disease" EXACT [] synonym: "glocucerebrosidase deficiency" EXACT [] synonym: "glucosylceramide beta-glucosidase deficiency" EXACT [] synonym: "kerasin thesaurismosis" EXACT [] xref: GARD:8233 xref: ICD10CM:E75.22 xref: MESH:D005776 xref: NCI:C61268 xref: ORDO:355 xref: SNOMEDCT_US_2023_03_01:190794006 xref: UMLS_CUI:C0017205 is_a: DOID:1927 ! sphingolipidosis [Term] id: DOID:1927 name: sphingolipidosis def: "A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates." [url:https\://en.wikipedia.org/wiki/Sphingolipidoses, url:https\://www.ncbi.nlm.nih.gov/pubmed/28857617] subset: DO_rare_slim subset: NCIthesaurus synonym: "sphingolipidoses" EXACT [] xref: GARD:7672 xref: ICD10CM:E75.3 xref: MESH:D013106 xref: NCI:C117254 xref: SNOMEDCT_US_2023_03_01:58459009 xref: UMLS_CUI:C0037899 is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:1928 name: Williams-Beuren syndrome def: "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23." [url:https\://ghr.nlm.nih.gov/condition/williams-syndrome, url:https\://research.nhgri.nih.gov/atlas/condition/williams-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1249/] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "Fanconi Schlesinger syndrome" EXACT [] synonym: "WBS" EXACT OMO:0003012 [] xref: ICD10CM:Q93.82 xref: MESH:D018980 xref: MIM:194050 xref: NCI:C85232 xref: SNOMEDCT_US_2023_03_01:63247009 xref: UMLS_CUI:C0175702 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:1929 name: supravalvular aortic stenosis def: "An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart." [url:https\://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis, url:https\://rarediseases.info.nih.gov/diseases/743/supravalvular-aortic-stenosis] subset: DO_rare_slim subset: NCIthesaurus synonym: "Supra-valvular aortic stenosis" EXACT [] xref: GARD:743 xref: ICD10CM:Q25.3 xref: MESH:D021921 xref: MIM:185500 xref: NCI:C85176 xref: SNOMEDCT_US_2023_03_01:204436002 xref: UMLS_CUI:C0003499 is_a: DOID:1712 ! aortic valve stenosis [Term] id: DOID:193 name: reproductive organ cancer alt_id: DOID:1900 def: "An organ system cancer that is manifested in the reproductive organs." [url:http\://en.wikipedia.org/wiki/Reproductive_system#Examples_of_cancers] subset: NCIthesaurus synonym: "cancer of reproductive system" RELATED [] synonym: "malignant reproductive system neoplasm" EXACT [] synonym: "Reproductive tumor" EXACT [] xref: NCI:C3674 xref: UMLS_CUI:C0178830 is_a: DOID:0050686 ! organ system cancer is_a: DOID:15 ! reproductive system disease [Term] id: DOID:1930 name: Laurence-Moon syndrome def: "A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25480986] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Laurence-Moon-Biedl syndrome" RELATED [] synonym: "LNMS" EXACT OMO:0003012 [] xref: GARD:12635 xref: MEDDRA:10056710 xref: MESH:D007849 xref: MIM:245800 xref: NCI:C34760 xref: ORDO:2377 xref: SNOMEDCT_US_2023_03_01:232059000 xref: UMLS_CUI:C0023138 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:1931 name: hypothalamic disease def: "A brain disease located_in the hypothalamus." [url:https\://en.wikipedia.org/wiki/Hypothalamic_disease, url:https\://medlineplus.gov/ency/article/002380.htm] xref: MESH:D007027 xref: SNOMEDCT_US_2023_03_01:88108008 xref: UMLS_CUI:C0020655 is_a: DOID:936 ! brain disease [Term] id: DOID:1932 name: Angelman syndrome def: "A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance." [url:https\://en.wikipedia.org/wiki/Angelman_syndrome, url:https\://ghr.nlm.nih.gov/condition/angelman-syndrome#genes, url:https\://research.nhgri.nih.gov/atlas/condition/angelman-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "happy puppet syndrome" EXACT [] synonym: "puppetlike syndrome" EXACT [] xref: GARD:5810 xref: ICD10CM:Q93.51 xref: MESH:D017204 xref: MIM:105830 xref: NCI:C75462 xref: SNOMEDCT_US_2023_03_01:76880004 xref: UMLS_CUI:C0162635 is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:D017204" xsd:string [Term] id: DOID:1933 name: Rubinstein-Taybi syndrome def: "A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes." [url:http\://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome, url:http\://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome, url:https\://research.nhgri.nih.gov/atlas/condition/rubinstein-taybi-syndrome] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Broad Thumb-Hallux syndrome" EXACT [] synonym: "proximal chromosome 16p13.3 deletion syndrome" EXACT [] synonym: "Rubinstein syndrome" EXACT [] xref: GARD:7593 xref: ICD10CM:Q87.2 xref: MESH:D012415 xref: MIM:180849 xref: MIM:610543 xref: MIM:613684 xref: NCI:C75466 xref: ORDO:783 xref: SNOMEDCT_US_2023_03_01:157032007 xref: UMLS_CUI:C0035934 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:1934 name: dysostosis def: "A bone development disease that results in defective ossification of bone." [url:http\://en.wikipedia.org/wiki/Dysostosis, url:http\://medical-dictionary.thefreedictionary.com/dysostosis] subset: NCIthesaurus xref: MESH:D004413 xref: NCI:C34560 xref: SNOMEDCT_US_2023_03_01:109420003 xref: UMLS_CUI:C0013393 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:1935 name: Bardet-Biedl syndrome def: "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases." [url:http\://en.wikipedia.org/wiki/Bardet-Biedl_syndrome, url:http\://en.wikipedia.org/wiki/Ciliopathy, url:http\://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6866 xref: ICD10CM:Q87.89 xref: MESH:D020788 xref: MIM:PS209900 xref: NCI:C118632 xref: ORDO:110 xref: SNOMEDCT_US_2023_03_01:5619004 xref: UMLS_CUI:C0752166 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:1936 name: atherosclerosis subset: DO_RAD_slim subset: NCIthesaurus xref: EFO:0003914 xref: ICD10CM:I70 xref: ICD9CM:440 xref: MESH:D050197 xref: NCI:C35768 xref: SNOMEDCT_US_2023_03_01:155414001 xref: UMLS_CUI:C0004153 is_a: DOID:2348 ! arteriosclerotic cardiovascular disease property_value: exactMatch "MESH:D050197" xsd:string [Term] id: DOID:1938 name: obsolete primary Bacillaceae infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:194 name: obsolete gonadal tissue neoplasm is_obsolete: true [Term] id: DOID:1941 name: obsolete intermittent alternating exotropia synonym: "Alternating intermittent exotropia (disorder)" EXACT [] synonym: "Intermittent alternating exotropia (disorder)" EXACT [] synonym: "Intermittent exotropia, alternating" EXACT [] is_obsolete: true [Term] id: DOID:1942 name: intermittent squint synonym: "Intermittent heterotropia" EXACT [] xref: ICD10CM:H50.3 xref: ICD9CM:378.2 xref: SNOMEDCT_US_2023_03_01:74025007 xref: UMLS_CUI:C0152210 is_a: DOID:540 ! strabismus [Term] id: DOID:1943 name: telogen effluvium subset: NCIthesaurus xref: ICD10CM:L65.0 xref: ICD9CM:704.02 xref: NCI:C112200 xref: SNOMEDCT_US_2023_03_01:201147004 xref: UMLS_CUI:C0263518 is_a: DOID:987 ! alopecia [Term] id: DOID:1947 name: trichomoniasis alt_id: DOID:10996 def: "A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively." [url:http\://en.wikipedia.org/wiki/Trichomoniasis] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "trichomonas infection" RELATED [] xref: ICD10CM:A59 xref: ICD9CM:131 xref: MEDDRA:10044620 xref: MESH:D014245 xref: NCI:C35720 xref: SNOMEDCT_US_2023_03_01:56335008 xref: UMLS_CUI:C0040921 is_a: DOID:2789 ! parasitic protozoa infectious disease [Term] id: DOID:1949 name: cholecystitis alt_id: DOID:1948 alt_id: DOID:2829 alt_id: DOID:9438 def: "A cholangitis that is characterized by an inflammation that is located in the gallbladder." [url:http\://en.wikipedia.org/wiki/Cholecystitis, url:https\://www.merriam-webster.com/dictionary/cholecystitis#medicalDictionary] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "acute and chronic cholecystitis" EXACT [] synonym: "acute cholecystitis" EXACT [] synonym: "acute on chronic cholecystitis" EXACT [] synonym: "chronic cholecystitis" EXACT [] xref: GARD:30 xref: ICD10CM:K81 xref: ICD9CM:575.10 xref: MESH:D002764 xref: MIM:600803 xref: NCI:C34465 xref: SNOMEDCT_US_2023_03_01:76581006 xref: UMLS_CUI:C0008325 is_a: DOID:9446 ! cholangitis [Term] id: DOID:195 name: obsolete reproductive endocrine cancer is_obsolete: true [Term] id: DOID:1954 name: obsolete benign hypertensive heart disease synonym: "benign hypertensive heart disease (disorder)" EXACT [] synonym: "benign hypertensive heart disease NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:196 name: obsolete acinar cell tumor synonym: "acinar cell neoplasm" EXACT [] synonym: "acinar cell neoplasm (morphologic abnormality)" EXACT [] synonym: "acinar cell neoplasm NOS (morphologic abnormality)" EXACT [] synonym: "acinar cell tumor (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:1962 name: fallopian tube disease def: "A female reproductive system disease that is located_in the fallopian tube." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21415195] subset: NCIthesaurus xref: MESH:D005184 xref: NCI:C26771 xref: SNOMEDCT_US_2023_03_01:128134005 xref: UMLS_CUI:C0015556 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:1963 name: fallopian tube carcinoma def: "A fallopian tube cancer that is located_in the fallopian tube." [url:http\://www.cancer.gov/dictionary/?CdrID=45687] subset: NCIthesaurus synonym: "cancer of the fallopian tube" EXACT [] synonym: "carcinoma of fallopian tube" EXACT [] synonym: "fallopian tube Ca" EXACT [] xref: MESH:D005185 xref: NCI:C3867 xref: SNOMEDCT_US_2023_03_01:276870001 xref: UMLS_CUI:C0238122 is_a: DOID:1964 ! fallopian tube cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:1964 name: fallopian tube cancer alt_id: DOID:1961 def: "A female reproductive organ cancer that is located_in fallopian tube." [url:http\://en.wikipedia.org/wiki/Fallopian_tube_cancer] subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "fallopian tube neoplasm" EXACT [] synonym: "malignant neoplasm of uterine tube" EXACT [] synonym: "malignant tumor of fallopian tube" EXACT [] synonym: "malignant tumour of fallopian tube" EXACT [] synonym: "neoplasm of fallopian tube" EXACT [] synonym: "tumor of the fallopian tube" EXACT [] synonym: "tumor, fallopian tube, malignant" EXACT [] xref: GARD:9162 xref: ICD10CM:C57.0 xref: ICD9CM:183.2 xref: MESH:D005185 xref: NCI:C3032 xref: NCI:C7480 xref: SNOMEDCT_US_2023_03_01:126916003 xref: SNOMEDCT_US_2023_03_01:93794008 xref: UMLS_CUI:C0015558 xref: UMLS_CUI:C0153579 is_a: DOID:120 ! female reproductive organ cancer is_a: DOID:1962 ! fallopian tube disease [Term] id: DOID:1965 name: fallopian tube leiomyosarcoma def: "A fallopian tube cancer that dervies_from smooth muscle cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20191300] subset: NCIthesaurus xref: NCI:C40128 xref: UMLS_CUI:C1517116 is_a: DOID:1964 ! fallopian tube cancer is_a: DOID:1967 ! leiomyosarcoma [Term] id: DOID:1966 name: obsolete fallopian tube soft tissue neoplasm is_obsolete: true [Term] id: DOID:1967 name: leiomyosarcoma def: "A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis." [url:http\://www.cancer.gov/dictionary/?CdrID=46027] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Leiomyosarcomas" EXACT [] xref: GARD:6880 xref: ICDO:8890/3 xref: MESH:D007890 xref: NCI:C3158 xref: SNOMEDCT_US_2023_03_01:443719001 xref: UMLS_CUI:C0023269 is_a: DOID:4230 ! smooth muscle cancer [Term] id: DOID:1969 name: cerebral palsy alt_id: DOID:1968 def: "A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance." [url:http\://en.wikipedia.org/wiki/Cerebral_palsy, url:http\://www.brainandspinalcord.org/cerebral-palsy/index.html, url:http\://www.cerebralpalsy.org/what-is-cerebral-palsy/] subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "infantile cerebral palsy" EXACT [] xref: ICD10CM:G80 xref: MESH:D002547 xref: NCI:C34460 xref: SNOMEDCT_US_2023_03_01:155024003 xref: UMLS_CUI:C0007789 is_a: DOID:936 ! brain disease [Term] id: DOID:197 name: obsolete glandular cell epithelial neoplasm synonym: "glandular cell Epithelium neoplasm" EXACT [] is_obsolete: true [Term] id: DOID:1970 name: fallopian tube carcinosarcoma def: "A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue." [url:http\://en.wikipedia.org/wiki/Carcinosarcoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "fallopian tube malignant mixed mesodermal (mullerian) tumor" EXACT [] synonym: "fallopian tube malignant mixed Mullerian tumor" EXACT [] xref: NCI:C40124 xref: UMLS_CUI:C1517117 is_a: DOID:1964 ! fallopian tube cancer [Term] id: DOID:1973 name: fallopian tube adenosarcoma def: "A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24557435] subset: NCIthesaurus synonym: "fallopian tube mullerian adenosarcoma" EXACT [] xref: NCI:C40125 xref: UMLS_CUI:C1517121 is_a: DOID:1970 ! fallopian tube carcinosarcoma [Term] id: DOID:1974 name: adenosarcoma def: "A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." [url:http\://en.wikipedia.org/wiki/Adenosarcoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "mullerian Adenosarcoma" EXACT [] xref: ICDO:8933/3 xref: MESH:D018195 xref: NCI:C9474 xref: SNOMEDCT_US_2023_03_01:189804002 xref: UMLS_CUI:C0001442 is_a: DOID:4236 ! carcinosarcoma property_value: exactMatch "MESH:D018195" xsd:string [Term] id: DOID:1975 name: thymus lipoma def: "An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24736228] subset: NCIthesaurus synonym: "Thymolipoma" EXACT [] xref: NCI:C6452 xref: SNOMEDCT_US_2023_03_01:447137005 xref: UMLS_CUI:C1336744 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:0060092 ! immune system organ benign neoplasm is_a: DOID:3315 ! lipoma is_a: DOID:533 ! thymus gland disease [Term] id: DOID:1977 name: obsolete lipoma of the mediastinum synonym: "Lipoma of mediastinum" EXACT [] is_obsolete: true [Term] id: DOID:1978 name: obsolete juxtapapillary focal choroiditis and chorioretinitis synonym: "Focal choroiditis and chorioretinitis, juxtapapillary" EXACT [] synonym: "Juxtapapillary focal choroiditis AND chorioretinitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1979 name: focal chorioretinitis xref: ICD10CM:H30.0 xref: ICD9CM:363.0 xref: SNOMEDCT_US_2023_03_01:15847003 xref: UMLS_CUI:C0154870 is_a: DOID:8886 ! chorioretinitis [Term] id: DOID:198 name: obsolete mesonephric tumor synonym: "Mesonephric neoplasm" EXACT [] synonym: "Mesonephric neoplasm (morphology)" EXACT [] synonym: "Mesonephric tumor (morphologic abnormality)" EXACT [] synonym: "Wolffian duct tumour" EXACT [] is_obsolete: true [Term] id: DOID:1982 name: obsolete Rhabdoviridae infectious disease def: "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses." [url:http\://en.wikipedia.org/wiki/Rhabdoviridae] is_obsolete: true [Term] id: DOID:1983 name: obsolete Mononegavirales infectious disease def: "A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses." [url:http\://en.wikipedia.org/wiki/Mononegavirales] is_obsolete: true [Term] id: DOID:1984 name: rectal benign neoplasm def: "An intestinal benign neoplasm located_in the rectum." [url:https\://www.ncbi.nlm.nih.gov/books/NBK6994/] subset: NCIthesaurus synonym: "neoplasm of rectum" EXACT [] synonym: "Rectal tumor" EXACT [] synonym: "rectum neoplasm" EXACT [] xref: MESH:D012004 xref: NCI:C3350 xref: SNOMEDCT_US_2023_03_01:126847008 xref: UMLS_CUI:C0034885 is_a: DOID:4610 ! intestinal benign neoplasm [Term] id: DOID:1986 name: obsolete perinatal disease is_obsolete: true [Term] id: DOID:1987 name: obsolete fetal disease synonym: "fetus disorder" EXACT [] is_obsolete: true [Term] id: DOID:1988 name: rectum lymphoma subset: NCIthesaurus synonym: "Lymphoma of rectum" EXACT [] xref: NCI:C5553 xref: UMLS_CUI:C1335685 is_a: DOID:0060058 ! lymphoma is_a: DOID:1993 ! rectum cancer [Term] id: DOID:1990 name: obsolete metastasis to the rectum synonym: "metastatic tumor to the rectum" EXACT [] is_obsolete: true [Term] id: DOID:1991 name: obsolete metastases to large Intestine synonym: "metastatic tumor to the large Intestine" EXACT [] synonym: "secondary malignant neoplasm of large intestine (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:1992 name: rectum malignant melanoma subset: NCIthesaurus synonym: "malignant melanoma of rectum" EXACT [] synonym: "melanoma of rectum" EXACT [] xref: NCI:C4640 xref: SNOMEDCT_US_2023_03_01:276822007 xref: UMLS_CUI:C0349539 is_a: DOID:1909 ! melanoma is_a: DOID:1993 ! rectum cancer [Term] id: DOID:1993 name: rectum cancer alt_id: DOID:1989 def: "A colorectal cancer that is located_in the rectum." [url:http\://www.cancer.gov/dictionary?CdrID=529764] subset: DO_cancer_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "cancer of rectum" RELATED [] synonym: "carcinoma of rectum" EXACT [] synonym: "carcinoma of the rectum" EXACT [] synonym: "malignant neoplasm of rectum" EXACT [] synonym: "malignant Rectal tumor" EXACT [] synonym: "malignant rectum tumor" EXACT [] synonym: "malignant tumor of rectum" EXACT [] synonym: "rectal cancer" EXACT [] xref: ICD10CM:C20 xref: ICD9CM:154.1 xref: MESH:D012004 xref: NCI:C7418 xref: NCI:C9382 xref: SNOMEDCT_US_2023_03_01:254582000 xref: SNOMEDCT_US_2023_03_01:93984006 xref: UMLS_CUI:C0007113 xref: UMLS_CUI:C0949022 is_a: DOID:9256 ! colorectal cancer [Term] id: DOID:1995 name: rectum sarcoma def: "A sarcoma and malignant tumor of rectum that is located_in the rectum." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23712252] subset: NCIthesaurus synonym: "sarcoma of rectum" EXACT [] xref: NCI:C5548 xref: UMLS_CUI:C1335688 is_a: DOID:1115 ! sarcoma is_a: DOID:1993 ! rectum cancer [Term] id: DOID:1996 name: rectum adenocarcinoma def: "A rectum cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Rectal adenocarcinoma" EXACT [] xref: NCI:C9383 xref: SNOMEDCT_US_2023_03_01:254582000 xref: UMLS_CUI:C0149978 is_a: DOID:1993 ! rectum cancer is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:1998 name: Lutembacher's syndrome synonym: "Lutembacher syndrome" EXACT [] synonym: "Lutembacher's anomaly" EXACT [] xref: MESH:D008185 xref: SNOMEDCT_US_2023_03_01:204319006 xref: UMLS_CUI:C0024164 is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:1999 name: chronic eustachian salpingitis def: "A otosalpingitis which is persistent and long-lasting." [url:http\://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false] synonym: "chronic eustachian tube salpingitis" EXACT [] xref: ICD10CM:H68.02 xref: ICD9CM:381.52 xref: SNOMEDCT_US_2023_03_01:194269002 xref: UMLS_CUI:C0155430 is_a: DOID:2000 ! otosalpingitis [Term] id: DOID:200 name: benign giant cell tumor subset: NCIthesaurus xref: MESH:D005870 xref: NCI:C3055 xref: SNOMEDCT_US_2023_03_01:443790001 xref: UMLS_CUI:C0017525 is_a: DOID:0060094 ! bone benign neoplasm [Term] id: DOID:2000 name: otosalpingitis def: "A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube." [url:http\://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false] synonym: "Eustachian salpingitis" EXACT [] synonym: "Eustachian tube salpingitis" EXACT [] xref: ICD10CM:H68.0 xref: ICD9CM:381.5 xref: SNOMEDCT_US_2023_03_01:194266009 xref: UMLS_CUI:C0155428 is_a: DOID:9739 ! eustachian tube disease [Term] id: DOID:2001 name: neuroma def: "A nervous system benign neoplasm that is characterized as a nerve tissue tumor." [url:http\://en.wikipedia.org/wiki/Neuroma] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9570/0 xref: MESH:D009463 xref: NCI:C3275 xref: SNOMEDCT_US_2023_03_01:443892003 xref: UMLS_CUI:C0027858 is_a: DOID:0060115 ! nervous system benign neoplasm [Term] id: DOID:2005 name: obsolete tracheal tuberculosis def: "A pulmonary tuberculosis involving inflammation that causes extensive thickening of the walls of the trachea with luminal narrowing." [url:http\://ats.ctsnetjournals.org/cgi/content/full/82/5/1900] subset: gram-positive_bacterial_infectious_disease synonym: "Isolated tracheal or bronchial tuberculosis (disorder)" EXACT [] synonym: "Isolated tracheal or bronchial tuberculosis NOS (disorder)" EXACT [] synonym: "Isolated tracheal or bronchial tuberculosis, unspecified examination" EXACT [] is_obsolete: true [Term] id: DOID:2006 name: preretinal fibrosis subset: NCIthesaurus synonym: "cellophane maculopathy" EXACT [] synonym: "Macular puckering of retina" EXACT [] synonym: "Macular retinal puckering" EXACT [] xref: ICD9CM:362.56 xref: MESH:D019773 xref: NCI:C175882 xref: SNOMEDCT_US_2023_03_01:193391002 xref: UMLS_CUI:C0339543 is_a: DOID:2007 ! degeneration of macula and posterior pole [Term] id: DOID:2007 name: degeneration of macula and posterior pole synonym: "degeneration of macula and posterior pole of retina" EXACT [] synonym: "degeneration of macula or posterior pole" EXACT [] xref: ICD10CM:H35.3 xref: ICD9CM:362.5 xref: SNOMEDCT_US_2023_03_01:193384000 xref: UMLS_CUI:C0339436 is_a: DOID:4448 ! macular degeneration [Term] id: DOID:201 name: connective tissue cancer def: "A musculoskeletal system cancer that is located_in connective tissue." [url:http\://en.wikipedia.org/wiki/Connective_tissue] subset: TopNodes_DOcancerslim synonym: "connective tissue neoplasm" EXACT [] synonym: "mesenchymal tissue malignant neoplasm" EXACT [] synonym: "neoplasm of connective tissues" EXACT [] synonym: "Tumour of connective tissue" EXACT [] xref: MESH:D009372 xref: SNOMEDCT_US_2023_03_01:126598008 xref: UMLS_CUI:C0027656 is_a: DOID:0060100 ! musculoskeletal system cancer is_a: DOID:65 ! connective tissue disease [Term] id: DOID:2010 name: obsolete impaired mobility of ear ossicles except malleus synonym: "Impaired mobility of ear ossicles, except malleus (disorder)" EXACT [] synonym: "Impaired mobility of other ear ossicles" EXACT [] is_obsolete: true [Term] id: DOID:2012 name: Nezelof syndrome def: "A T cell deficiency that results from the disfunction or underdevelopment of the thymus." [url:https\://en.wikipedia.org/wiki/Nezelof_syndrome, url:https\://meshb.nlm.nih.gov/record/ui?ui=C536288] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Nezelof's syndrome" EXACT [] synonym: "T-cell immunodeficiency with thymic aplasia" EXACT [] synonym: "thymic aplasia" EXACT [] synonym: "thymic dysplasia with normal immunoglobulins" EXACT [] synonym: "TIDTA" EXACT OMO:0003012 [] xref: ICD10CM:D81.4 xref: ICD9CM:279.13 xref: MIM:242700 xref: ORDO:83471 xref: SNOMEDCT_US_2023_03_01:55602000 xref: UMLS_CUI:C0152094 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency [Term] id: DOID:2014 name: obsolete perinatal digestive system disorder is_obsolete: true [Term] id: DOID:2018 name: hyperinsulinism synonym: "hyperinsulinemia" EXACT [] xref: ICD10CM:E16.1 xref: MESH:D006946 xref: SNOMEDCT_US_2023_03_01:154694003 xref: UMLS_CUI:C0020459 is_a: DOID:26 ! pancreas disease is_a: DOID:4194 ! glucose metabolism disease [Term] id: DOID:2021 name: placenta cancer alt_id: DOID:2023 def: "A female reproductive organ cancer that is located_in the placenta." [url:https\://www.medstarcancer.org/conditions/gynecologic-cancer/placenta-cancer/, url:https\://www.ncbi.nlm.nih.gov/pubmed/26156670\,] subset: NCIthesaurus synonym: "malignant neoplasm of placenta" EXACT [] synonym: "malignant Placental tumor" EXACT [] synonym: "neoplasm of placenta" EXACT [] synonym: "placental cancer" EXACT [] synonym: "Placental tumors" EXACT [] synonym: "primary malignant neoplasm of placenta" EXACT [] xref: ICD10CM:C58 xref: ICD9CM:181 xref: NCI:C3555 xref: SNOMEDCT_US_2023_03_01:188187004 xref: UMLS_CUI:C0153572 is_a: DOID:363 ! uterine cancer is_a: DOID:780 ! placenta disease [Term] id: DOID:2022 name: obsolete metastatic neoplasm to the placenta synonym: "metastatic tumor to the Placenta" EXACT [] is_obsolete: true [Term] id: DOID:2024 name: placental choriocarcinoma def: "A gestational choriocarcinoma that is located_in the placenta." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577684/] subset: NCIthesaurus synonym: "Choriocarcinoma of the Placenta" EXACT [] xref: NCI:C8893 xref: SNOMEDCT_US_2023_03_01:448401007 xref: UMLS_CUI:C0855173 is_a: DOID:2025 ! gestational choriocarcinoma [Term] id: DOID:2025 name: gestational choriocarcinoma def: "A choriocarcinoma that develops in the presence of a preceding gestational event." [url:https\://en.wikipedia.org/wiki/Gestational_choriocarcinoma] subset: NCIthesaurus synonym: "Gestational chorionepithelioma" EXACT [] synonym: "Molar pregnancy with choriocarcinoma" EXACT [] xref: NCI:C4646 xref: SNOMEDCT_US_2023_03_01:1884006 xref: UMLS_CUI:C0349557 is_a: DOID:3594 ! choriocarcinoma [Term] id: DOID:2027 name: obsolete fetal or neonatal hemorrhage is_obsolete: true [Term] id: DOID:203 name: exostosis def: "A hyperostosis that involves formation of new bone on the surface of preexisting bone." [url:http\://en.wikipedia.org/wiki/Exostosis, url:http\://medical-dictionary.thefreedictionary.com/exostosis] subset: NCIthesaurus synonym: "bone spur" EXACT [] synonym: "bony outgrowth" EXACT [] synonym: "orbital exostosis" EXACT [] synonym: "osteophyte" EXACT [] synonym: "swimmer's exostosis" EXACT [] xref: ICD10CM:M27.8 xref: ICD9CM:726.91 xref: MESH:D005096 xref: NCI:C3029 xref: SNOMEDCT_US_2023_03_01:80400009 xref: UMLS_CUI:C1442903 is_a: DOID:205 ! hyperostosis [Term] id: DOID:2030 name: anxiety disorder alt_id: DOID:12884 def: "A cognitive disorder that involves an excessive, irrational dread of everyday situations." [url:http\://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml] subset: DO_RAD_slim subset: NCIthesaurus synonym: "anxiety" EXACT [] synonym: "anxiety state" EXACT [] xref: ICD10CM:F41.9 xref: MESH:D001008 xref: MIM:607834 xref: NCI:C2878 xref: SNOMEDCT_US_2023_03_01:65673007 xref: UMLS_CUI:C0003469 is_a: DOID:1561 ! cognitive disorder [Term] id: DOID:2033 name: communication disorder def: "A specific developmental disorder that involves specific developmental disorders of speech and language." [url:http\://en.wikipedia.org/wiki/Communication_disorder] subset: NCIthesaurus xref: ICD10CM:F80.9 xref: MESH:D003147 xref: NCI:C2958 xref: SNOMEDCT_US_2023_03_01:74825008 xref: UMLS_CUI:C0009460 is_a: DOID:0060038 ! specific developmental disorder [Term] id: DOID:2034 name: encephalomalacia def: "A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system." [url:https\://en.wikipedia.org/wiki/Cerebral_softening] subset: NCIthesaurus xref: MESH:D004678 xref: NCI:C98920 xref: SNOMEDCT_US_2023_03_01:58762006 xref: UMLS_CUI:C0014068 is_a: DOID:936 ! brain disease [Term] id: DOID:2038 name: obsolete urogenital abnormality is_obsolete: true [Term] id: DOID:204 name: enthesopathy def: "A connective tissue disease characterized by damage of tissues located_in the entheses, the site of insertion of tendons or ligaments into bones or joint capsules, with symptoms of pain, swelling and inflammation." [url:https\://en.wikipedia.org/wiki/Enthesopathy, url:https\://www.orthomedctr.com/enthesopathy.php] xref: ICD10CM:M77.9 xref: ICD9CM:726.90 xref: MESH:D000070676 xref: SNOMEDCT_US_2023_03_01:278525009 xref: UMLS_CUI:C0242490 is_a: DOID:65 ! connective tissue disease property_value: exactMatch "MESH:D000070676" xsd:string [Term] id: DOID:2043 name: hepatitis B alt_id: DOID:12591 alt_id: DOID:12592 alt_id: DOID:2042 def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice." [url:http\://en.wikipedia.org/wiki/Hepatitis_B#Transmission, url:http\://www.cdc.gov/hepatitis/HBV/index.htm, url:http\://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: sexually_transmitted_infectious_disease synonym: "chronic hepatitis B" EXACT [] synonym: "hepatitis B infection" EXACT [] synonym: "Serum hepatitis" RELATED [] xref: EFO:0004197 xref: MESH:D006509 xref: NCI:C3097 xref: SNOMEDCT_US_2023_03_01:66071002 xref: UMLS_CUI:C0019163 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:2044 name: drug-induced hepatitis synonym: "Drug-induced chronic hepatitis" EXACT [] xref: MESH:D056487 xref: SNOMEDCT_US_2023_03_01:235889003 xref: UMLS_CUI:C0524912 is_a: DOID:2237 ! hepatitis [Term] id: DOID:2047 name: hepatitis D alt_id: DOID:2046 def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma." [url:http\://www.cdc.gov/hepatitis/HDV/index.htm, url:http\://www.who.int/csr/disease/hepatitis/whocdscsrncs20011/en/index3.html] subset: DO_infectious_disease_slim synonym: "delta hepatitis" EXACT [] xref: MESH:D003699 xref: SNOMEDCT_US_2023_03_01:424460009 xref: UMLS_CUI:C0011226 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:2048 name: autoimmune hepatitis alt_id: DOID:4745 def: "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells." [url:http\://en.wikipedia.org/wiki/Autoimmune_hepatitis] {comment="sn:IEDB"} subset: DO_rare_slim subset: NCIthesaurus synonym: "Autoimmune chronic active hepatitis" EXACT [] synonym: "autoimmune hepatitis with centrilobular necrosis" EXACT [] xref: GARD:5871 xref: ICD9CM:571.42 xref: MESH:D019693 xref: NCI:C27778 xref: SNOMEDCT_US_2023_03_01:16098491000119109 xref: UMLS_CUI:C0241910 xref: UMLS_CUI:C1332355 is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract [Term] id: DOID:205 name: hyperostosis def: "A bone remodeling disease that results in an abnormal growth of located in bone." [url:http\://en.wikipedia.org/wiki/Hyperostosis] subset: NCIthesaurus synonym: "bone hypertrophy" EXACT [] synonym: "hypertrophy of bone" EXACT [] xref: ICD10CM:M89.3 xref: MESH:D015576 xref: NCI:C34712 xref: SNOMEDCT_US_2023_03_01:13814009 xref: UMLS_CUI:C0020492 is_a: DOID:0080005 ! bone remodeling disease [Term] id: DOID:2050 name: acute maxillary sinusitis def: "A maxillary sinusitis which lasts for less than 4 weeks." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html] synonym: "acute antritis" EXACT [] xref: ICD10CM:J01.0 xref: ICD9CM:461.0 xref: SNOMEDCT_US_2023_03_01:155499007 xref: UMLS_CUI:C0155804 is_a: DOID:2051 ! maxillary sinusitis [Term] id: DOID:2051 name: maxillary sinusitis def: "A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html] subset: NCIthesaurus xref: ICD10CM:J32.0 xref: MESH:D015523 xref: NCI:C34809 xref: SNOMEDCT_US_2023_03_01:275484005 xref: UMLS_CUI:C0024959 is_a: DOID:0050127 ! sinusitis [Term] id: DOID:2053 name: reactive cutaneous fibrous lesion subset: NCIthesaurus xref: NCI:C27549 xref: UMLS_CUI:C1335666 is_a: DOID:37 ! skin disease [Term] id: DOID:2055 name: post-traumatic stress disorder def: "An anxiety disorder which results from a traumatic experience that results in psychological trauma." [url:http\://en.wikipedia.org/wiki/Post-traumatic_stress_disorder] subset: NCIthesaurus synonym: "PTSD" EXACT OMO:0003012 [] synonym: "traumatic neurosis" EXACT [] xref: ICD10CM:F43.1 xref: ICD9CM:309.81 xref: MESH:D013313 xref: NCI:C3389 xref: SNOMEDCT_US_2023_03_01:192415000 xref: UMLS_CUI:C0038436 is_a: DOID:2030 ! anxiety disorder [Term] id: DOID:2058 name: chronic mucocutaneous candidiasis alt_id: DOID:2056 def: "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp." [url:http\://www.merck.com/mmpe/sec13/ch164/ch164f.html?qt=Chronic%20mucocutaneous%20candidiasis&alt=sh] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:12313 xref: MESH:D002178 xref: MIM:114580 xref: MIM:212050 xref: MIM:607644 xref: MIM:613108 xref: MIM:613956 xref: MIM:614162 xref: MIM:615527 xref: MIM:616445 xref: NCI:C34444 xref: ORDO:1334 xref: SNOMEDCT_US_2023_03_01:234568006 xref: UMLS_CUI:C0006845 is_a: DOID:1508 ! candidiasis is_a: DOID:37 ! skin disease is_a: DOID:4123 ! nail disease [Term] id: DOID:2059 name: vulvar disease def: "A female reproductive system disease that is located_in the vulva." [url:https\://en.wikipedia.org/wiki/Vulvar_disease] subset: NCIthesaurus xref: MESH:D014845 xref: NCI:C27631 xref: SNOMEDCT_US_2023_03_01:5089007 xref: UMLS_CUI:C0042994 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:206 name: hereditary multiple exostoses def: "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth." [url:http\://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html, url:http\://en.wikipedia.org/wiki/Hereditary_multiple_exostoses, url:http\://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses, url:http\://www.mheresearchfoundation.org/, url:http\://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "hereditary multiple exostoses 1" EXACT [] synonym: "hereditary multiple exostoses 2" EXACT [] synonym: "hereditary multiple exostoses 3" EXACT [] synonym: "Multiple congenital exostosis" EXACT [] synonym: "Multiple exostosis syndromes" EXACT [] synonym: "multiple ostechondromas" EXACT [] synonym: "Osteochondromatosis syndrome" EXACT [] xref: ICD10CM:Q78.6 xref: MESH:D005097 xref: MIM:133700 xref: MIM:133701 xref: MIM:600209 xref: NCI:C5183 xref: ORDO:321 xref: SNOMEDCT_US_2023_03_01:254044004 xref: UMLS_CUI:C0015306 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:203 ! exostosis [Term] id: DOID:2060 name: vulvar nodular hidradenoma def: "A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells." [url:http\://www.pathologyoutlines.com/topic/skintumornonmelanocyticeccrineacrospiroma.html] subset: NCIthesaurus xref: NCI:C40312 xref: UMLS_CUI:C1520091 is_a: DOID:0060109 ! vulvar benign neoplasm [Term] id: DOID:2061 name: nodular hidradenoma synonym: "Eccrine nodular hidradenoma" RELATED [] is_a: DOID:3896 ! hidradenoma [Term] id: DOID:2062 name: obsolete vulvar tumor of skin appendage origin is_obsolete: true [Term] id: DOID:2064 name: vulvar syringoma def: "A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching." [url:https\://en.wikipedia.org/wiki/Syringoma, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588787/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190724/] subset: NCIthesaurus xref: NCI:C40311 xref: UMLS_CUI:C1520099 is_a: DOID:0060109 ! vulvar benign neoplasm [Term] id: DOID:2065 name: syringoma subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10547 xref: ICDO:8407/0 xref: MESH:D018252 xref: MIM:186600 xref: NCI:C3761 xref: SNOMEDCT_US_2023_03_01:189051001 xref: UMLS_CUI:C0206673 is_a: DOID:2664 ! sweat gland benign neoplasm [Term] id: DOID:2066 name: vulvar angiokeratoma def: "A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228019/] subset: NCIthesaurus synonym: "Fordyce angiokeratoma of vulva" EXACT [] xref: NCI:C8596 xref: SNOMEDCT_US_2023_03_01:402841001 xref: UMLS_CUI:C1274281 is_a: DOID:0060109 ! vulvar benign neoplasm [Term] id: DOID:2068 name: Bartholin's gland benign neoplasm subset: NCIthesaurus synonym: "Bartholin gland neoplasm" EXACT [] synonym: "tumor of Bartholin's gland" EXACT [] xref: NCI:C6434 xref: UMLS_CUI:C0220616 is_a: DOID:0060088 ! vestibular gland benign neoplasm [Term] id: DOID:2069 name: obsolete vulvar acquired melanocytic nevus is_obsolete: true [Term] id: DOID:2070 name: obsolete vulvar melanocytic neoplasm is_obsolete: true [Term] id: DOID:2071 name: vulvar squamous papilloma subset: NCIthesaurus xref: NCI:C6376 xref: UMLS_CUI:C1336982 is_a: DOID:2072 ! vulvar squamous tumor [Term] id: DOID:2072 name: vulvar squamous tumor def: "A vulva cancer that has_material_basis_in squamous tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24342664] subset: NCIthesaurus xref: NCI:C40283 xref: UMLS_CUI:C1520097 is_a: DOID:1245 ! vulva cancer [Term] id: DOID:2073 name: perinatal intestinal perforation xref: ICD10CM:P78.0 xref: ICD9CM:777.6 xref: SNOMEDCT_US_2023_03_01:206526009 xref: UMLS_CUI:C0159006 is_a: DOID:2074 ! intestinal perforation [Term] id: DOID:2074 name: intestinal perforation subset: NCIthesaurus synonym: "Perforation of intestine" EXACT [] xref: ICD9CM:569.83 xref: MESH:D007416 xref: NCI:C39611 xref: SNOMEDCT_US_2023_03_01:56905009 xref: UMLS_CUI:C0021845 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:2075 name: minor vestibular glands adenoma def: "A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures." [url:http\://atlasgeneticsoncology.org/Tumors/VulVaginaCarcID5274.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/14714720] subset: NCIthesaurus synonym: "adenoma of minor vestibular glands" RELATED [] xref: NCI:C40301 xref: UMLS_CUI:C1510791 is_a: DOID:0060088 ! vestibular gland benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:2076 name: vulvar glandular tumor def: "A vulva cancer that has_material_basis_in glandular tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24342664] subset: NCIthesaurus xref: NCI:C40292 xref: UMLS_CUI:C1520082 is_a: DOID:1245 ! vulva cancer [Term] id: DOID:2077 name: obsolete vulvar congenital melanocytic nevus is_obsolete: true [Term] id: DOID:2078 name: chondroid syringoma of the vulva subset: NCIthesaurus xref: NCI:C40302 xref: UMLS_CUI:C1511091 is_a: DOID:0060109 ! vulvar benign neoplasm is_a: DOID:2079 ! eccrine mixed tumor of skin [Term] id: DOID:2079 name: eccrine mixed tumor of skin subset: NCIthesaurus synonym: "Eccrine mixed tumor" EXACT [] synonym: "Eccrine mixed tumour" EXACT [] synonym: "eccrine mixed tumour of skin" EXACT [] synonym: "mixed Eccrine neoplasm of the skin" EXACT [] xref: NCI:C4474 xref: SNOMEDCT_US_2023_03_01:254720009 xref: UMLS_CUI:C0346026 is_a: DOID:173 ! eccrine sweat gland neoplasm [Term] id: DOID:208 name: obsolete hereditary neoplastic syndrome synonym: "Familiar neoplastic syndrome" EXACT [] is_obsolete: true [Term] id: DOID:2080 name: vulvar trichoepithelioma def: "A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236999/] subset: NCIthesaurus xref: NCI:C40314 xref: UMLS_CUI:C1520100 is_a: DOID:0060109 ! vulvar benign neoplasm [Term] id: DOID:2083 name: obsolete vulvar soft tissue tumor is_obsolete: true [Term] id: DOID:2085 name: obsolete vulvar blue nevus is_obsolete: true [Term] id: DOID:2086 name: obsolete blue nevus synonym: "Blue naevus" EXACT [] synonym: "Blue nevus (morphologic abnormality)" EXACT [] synonym: "Blue nevus NOS (morphologic abnormality)" EXACT [] synonym: "Blue nevus of skin (disorder)" EXACT [] synonym: "Blue skin nevus" EXACT [] is_obsolete: true [Term] id: DOID:2088 name: obsolete outlet dysfunction constipation comment: reviewed 10/2022 & determined to be a symptom xref: ICD10CM:K59.02 xref: ICD9CM:564.02 xref: UMLS_CUI:C0949134 is_obsolete: true [Term] id: DOID:2089 name: obsolete constipation def: "A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces." [url:https\://en.wikipedia.org/wiki/Constipation, url:https\://www.ncbi.nlm.nih.gov/pubmed/19647687] comment: reviewed 10/2022 & determined to be a symptom subset: NCIthesaurus xref: ICD10CM:K59.0 xref: ICD9CM:564.0 xref: MESH:D003248 xref: NCI:C37930 xref: SNOMEDCT_US_2022_03_01:363693003 xref: UMLS_CUI:C0009806 is_obsolete: true [Term] id: DOID:2092 name: transient arthritis subset: NCIthesaurus xref: ICD10CM:M12.8 xref: ICD9CM:716.4 xref: NCI:C35761 xref: SNOMEDCT_US_2023_03_01:66191007 xref: UMLS_CUI:C0152083 is_a: DOID:381 ! arthropathy [Term] id: DOID:2093 name: vulvar melanoma def: "A vulva cancer that has_material_basis_in melanocytes." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514586/] subset: NCIthesaurus synonym: "malignant melanoma of vulva" EXACT [] xref: NCI:C40329 xref: SNOMEDCT_US_2023_03_01:254896002 xref: UMLS_CUI:C0241989 is_a: DOID:1245 ! vulva cancer [Term] id: DOID:2094 name: obsolete vulvar sweat gland cancer is_obsolete: true [Term] id: DOID:2095 name: sweat gland cancer subset: NCIthesaurus synonym: "malignant neoplasm of sweat gland" EXACT [] synonym: "malignant tumor of the Sweat gland" EXACT [] xref: ICD10CM:C44 xref: NCI:C4810 xref: SNOMEDCT_US_2023_03_01:255095005 xref: UMLS_CUI:C1321904 is_a: DOID:1383 ! sweat gland disease is_a: DOID:4159 ! skin cancer [Term] id: DOID:2096 name: vulvar sarcoma def: "A vulva cancer that has_material_basis_in connective tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25816393] subset: NCIthesaurus synonym: "sarcoma of vulva" EXACT [] xref: NCI:C40317 xref: SNOMEDCT_US_2023_03_01:254897006 xref: UMLS_CUI:C0238525 is_a: DOID:1245 ! vulva cancer [Term] id: DOID:2097 name: vulval Paget's disease def: "A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26971063] subset: NCIthesaurus synonym: "Paget's disease of vulva" EXACT [] synonym: "vulval Paget disease" EXACT [] synonym: "Vulvar Paget's disease" EXACT [] xref: NCI:C4027 xref: SNOMEDCT_US_2023_03_01:254898001 xref: UMLS_CUI:C1275217 is_a: DOID:2098 ! vulva adenocarcinoma [Term] id: DOID:2098 name: vulva adenocarcinoma def: "A vulva carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of the vulva" RELATED [] synonym: "adenocarcinoma of Vulva" EXACT [] xref: NCI:C6380 xref: UMLS_CUI:C1336975 is_a: DOID:1294 ! vulva carcinoma is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:2099 name: obsolete extramammary Paget's disease comment: OMIM mapping confirmed by DO. [SN]. synonym: "extramammary Paget disease" EXACT [] synonym: "Extramammary Paget's disease (morphologic abnormality)" EXACT [] synonym: "Paget's disease, extramammary, excluding Paget's disease of bone (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:210 name: heel spur def: "An exostosis that results_in an abnormal growth located_in calcaneus." [url:http\://en.wikipedia.org/wiki/Calcaneal_spur, url:http\://www.medterms.com/script/main/art.asp?articlekey=7094] synonym: "Calcaneal spur" RELATED [] xref: ICD10CM:M77.3 xref: ICD9CM:726.73 xref: MESH:D036982 xref: SNOMEDCT_US_2023_03_01:156663001 xref: UMLS_CUI:C0158322 is_a: DOID:203 ! exostosis [Term] id: DOID:2100 name: obsolete vulvar metastasis is_obsolete: true [Term] id: DOID:2101 name: vulva squamous cell carcinoma def: "A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma, url:http\://en.wikipedia.org/wiki/Vulvar_cancer#Squamous_cell_carcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "squamous cell carcinoma of vulva" RELATED [] synonym: "Vulvar Epidermoid carcinoma" EXACT [] synonym: "vulvar squamous cell carcinoma" EXACT [] xref: NCI:C4052 xref: SNOMEDCT_US_2023_03_01:254895003 xref: UMLS_CUI:C0280856 is_a: DOID:1294 ! vulva carcinoma is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:2106 name: myotonia congenita alt_id: DOID:0080100 def: "A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres." [url:http\://rarediseases.org/rare-diseases/myotonia-congenita/, url:http\://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=614, url:https\://medlineplus.gov/genetics/condition/myotonia-congenita/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Batten Turner congenital myopathy" EXACT [] synonym: "Thomsen and Becker disease" EXACT [] xref: GARD:12301 xref: ICD9CM:359.22 xref: MESH:D009224 xref: NCI:C84912 xref: ORDO:614 xref: UMLS_CUI:C0027127 is_a: DOID:0080015 ! physical disorder is_a: DOID:66 ! muscle tissue disease [Term] id: DOID:2108 name: obsolete transplant-related disease def: "An immune system disease that is related to the transplantation of cells, tissues and/or whole organs from one individual to another." [ls:IEDB] is_obsolete: true [Term] id: DOID:211 name: obsolete Ankle or tarsus enthesopathy is_obsolete: true [Term] id: DOID:2112 name: cystoisosporiasis alt_id: DOID:4891 def: "A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Cystoisosporiasis.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Infection by Isospora belli and Isospora hominis" EXACT [] synonym: "isosporiasis" EXACT [] synonym: "Isosporosis" EXACT [] xref: ICD10CM:A07.3 xref: MESH:D021865 xref: NCI:C4076 xref: SNOMEDCT_US_2023_03_01:73034009 xref: UMLS_CUI:C0311386 is_a: DOID:2113 ! coccidiosis [Term] id: DOID:2113 name: coccidiosis def: "A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection." [url:http\://en.wikipedia.org/wiki/Coccidiosis] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "intestinal coccidiosis" RELATED [] xref: MESH:D003048 xref: NCI:C34493 xref: SNOMEDCT_US_2023_03_01:186125004 xref: UMLS_CUI:C0009187 is_a: DOID:2789 ! parasitic protozoa infectious disease [Term] id: DOID:2115 name: B cell deficiency alt_id: DOID:6026 def: "A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2601718/pdf/nihms57213.pdf, url:http\://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#WhatisPrimaryImmunodeficiency] synonym: "B cell (antibody) deficiencies" EXACT [] synonym: "Immunoglobulin heavy chain deficiency" EXACT [] synonym: "immunoglobulin heavy chain deletion" EXACT [] xref: ICD9CM:279.03 xref: SNOMEDCT_US_2023_03_01:190982008 xref: UMLS_CUI:C0154276 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:2120 name: focal dermal hypoplasia def: "A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23." [url:https\://rarediseases.info.nih.gov/diseases/6457/disease] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "FDH" EXACT OMO:0003012 [] synonym: "FODH" EXACT OMO:0003012 [] synonym: "Goltz syndrome" EXACT [] synonym: "Goltz-Gorlin syndrome" EXACT [] xref: GARD:6457 xref: MESH:D005489 xref: MIM:305600 xref: NCI:C84715 xref: ORDO:2092 xref: SNOMEDCT_US_2023_03_01:205573006 xref: UMLS_CUI:C0016395 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:2121 name: ectodermal dysplasia def: "A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings." [url:https\://en.wikipedia.org/wiki/Ectodermal_dysplasia, url:https\://medlineplus.gov/ency/article/001469.htm] subset: DO_rare_slim subset: NCIthesaurus synonym: "Congenital ectodermal defect" EXACT [] synonym: "Congenital ectodermal dysplasia" EXACT [] xref: GARD:6317 xref: ICD9CM:757.31 xref: MESH:D004476 xref: MIM:PS305100 xref: NCI:C84683 xref: ORDO:79373 xref: SNOMEDCT_US_2023_03_01:8654005 xref: UMLS_CUI:C0013575 is_a: DOID:225 ! syndrome [Term] id: DOID:2122 name: pneumonic tularemia def: "A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing." [url:http\://www.cdc.gov/tularemia/signssymptoms/] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "bronchopneumonic tularemia" EXACT [] synonym: "Pneumonic tularaemia" EXACT [] synonym: "pulmonary tularemia" EXACT [] xref: ICD10CM:A21.2 xref: ICD9CM:021.2 xref: SNOMEDCT_US_2023_03_01:186297007 xref: UMLS_CUI:C0339946 is_a: DOID:2123 ! tularemia is_a: DOID:850 ! lung disease [Term] id: DOID:2123 name: tularemia def: "A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues." [url:http\://www.cdc.gov/tularemia/index.html] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease xref: GARD:396 xref: ICD9CM:021.8 xref: SNOMEDCT_US_2023_03_01:186298002 xref: UMLS_CUI:C0029835 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:2124 name: obsolete intracranial neoplasm alt_id: DOID:1320 synonym: "intracranial central nervous system tumors" EXACT [] synonym: "intracranial tumor (disorder)" EXACT [] synonym: "intracranial tumors, malignant" EXACT [] synonym: "malignant intracranial neoplasm" EXACT [] is_obsolete: true [Term] id: DOID:2127 name: brain germinoma def: "A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells." [url:https\://en.wikipedia.org/wiki/Germinoma] subset: NCIthesaurus synonym: "germinoma of the brain" EXACT [] synonym: "intracranial germinoma" EXACT [] xref: NCI:C6284 xref: UMLS_CUI:C1332606 is_a: DOID:1319 ! brain cancer is_a: DOID:2994 ! germ cell cancer [Term] id: DOID:2128 name: obsolete intracranial germinoma is_obsolete: true [Term] id: DOID:2129 name: atypical teratoid rhabdoid tumor def: "A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system." [url:http\://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor] subset: DO_cancer_slim subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "AT/RT" EXACT OMO:0003012 [] synonym: "ATRT" EXACT OMO:0003012 [] synonym: "atypical teratoid rhabdoid tumour" EXACT [] synonym: "Atypical teratoid/rhabdoid tumor" EXACT [] synonym: "Atypical teratoid/rhabdoid tumour" EXACT [] synonym: "Rhabdoid tumor of the CNS" EXACT [] synonym: "Rhabdoid tumour of the CNS" EXACT [] xref: ICDO:9508/3 xref: NCI:C6906 xref: ORDO:99966 xref: SNOMEDCT_US_2023_03_01:128792003 xref: UMLS_CUI:C1266184 is_a: DOID:1319 ! brain cancer property_value: relatedMatch "MIM:609322" xsd:string [Term] id: DOID:2131 name: obsolete childhood malignant central nervous system neoplasm synonym: "malignant pediatric tumor of CNS" EXACT [] is_obsolete: true [Term] id: DOID:2132 name: brain sarcoma def: "A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12170093] subset: NCIthesaurus synonym: "sarcoma of the brain" EXACT [] xref: NCI:C5154 xref: UMLS_CUI:C1332607 is_a: DOID:1319 ! brain cancer [Term] id: DOID:2133 name: central nervous system sarcoma def: "A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm." [url:https\://en.wikipedia.org/wiki/Sarcoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/12170093] subset: NCIthesaurus synonym: "sarcoma of the CNS" EXACT [] xref: NCI:C5153 xref: UMLS_CUI:C1332892 is_a: DOID:1115 ! sarcoma is_a: DOID:3620 ! central nervous system cancer [Term] id: DOID:2135 name: temporal lobe neoplasm alt_id: DOID:2134 subset: NCIthesaurus synonym: "malignant neoplasm of temporal lobe" EXACT [] synonym: "neoplasm of temporal lobe" EXACT [] synonym: "tumor of Temporal Lobe" EXACT [] xref: ICD10CM:C71.2 xref: ICD9CM:191.2 xref: NCI:C5567 xref: SNOMEDCT_US_2023_03_01:126955002 xref: SNOMEDCT_US_2023_03_01:94086000 xref: UMLS_CUI:C0153636 xref: UMLS_CUI:C1263887 is_a: DOID:368 ! cerebrum cancer [Term] id: DOID:2139 name: paraurethral gland neoplasm synonym: "neoplasm of paraurethral glands" EXACT [] synonym: "tumor of the Paraurethral gland" EXACT [] xref: SNOMEDCT_US_2023_03_01:126884005 xref: UMLS_CUI:C0341766 is_a: DOID:730 ! urethral benign neoplasm [Term] id: DOID:214 name: teeth hard tissue disease xref: ICD10CM:K03.8 xref: ICD9CM:521.8 xref: SNOMEDCT_US_2023_03_01:197505001 xref: UMLS_CUI:C0029770 is_a: DOID:1091 ! tooth disease [Term] id: DOID:2140 name: urethral urothelial papilloma subset: NCIthesaurus xref: NCI:C5061 xref: UMLS_CUI:C1519826 is_a: DOID:730 ! urethral benign neoplasm [Term] id: DOID:2142 name: urethra leiomyoma def: "An urethral benign neoplasm that derives_from smooth muscle cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141528/] subset: NCIthesaurus synonym: "leiomyoma of the urethra" EXACT [] xref: NCI:C6171 xref: UMLS_CUI:C1336888 is_a: DOID:127 ! leiomyoma is_a: DOID:730 ! urethral benign neoplasm [Term] id: DOID:2143 name: ovarian malignant mesothelioma def: "An ovarian cancer that derives_from mesothelial tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8764743] subset: NCIthesaurus xref: NCI:C40444 xref: UMLS_CUI:C1518721 is_a: DOID:2394 ! ovarian cancer [Term] id: DOID:2145 name: malignant ovarian cyst def: "An ovarian cancer that is characterized by cystic structure." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23627408] subset: NCIthesaurus xref: NCI:C3843 xref: UMLS_CUI:C0235770 is_a: DOID:2394 ! ovarian cancer [Term] id: DOID:2146 name: ovary sarcoma def: "An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21740740] subset: NCIthesaurus synonym: "sarcoma of Ovary" EXACT [] xref: NCI:C8267 xref: SNOMEDCT_US_2023_03_01:423627007 xref: UMLS_CUI:C0280746 is_a: DOID:1115 ! sarcoma is_a: DOID:2394 ! ovarian cancer [Term] id: DOID:2147 name: obsolete ovary soft tissue neoplasm synonym: "soft tissue tumor of Ovary" EXACT [] is_obsolete: true [Term] id: DOID:2148 name: tuberculous oophoritis def: "An urogenital tuberculosis that results_in inflammtion located_in ovary." [url:https\://www1.cgmh.org.tw/intr/intr5/c6700/OBGYN/f/web/Oophoritis/index.htm] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease xref: ICD10CM:A18.17 xref: ICD9CM:016.6 xref: SNOMEDCT_US_2023_03_01:186242002 xref: UMLS_CUI:C0152828 is_a: DOID:1100 ! ovarian disease is_a: DOID:2149 ! urogenital tuberculosis [Term] id: DOID:2149 name: urogenital tuberculosis def: "An extrapulmonary tuberculosis that is located_in urogenital system." [url:http\://en.wikipedia.org/wiki/Urogenital_tuberculosis] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease synonym: "Genitourinary tuberculosis" RELATED [] xref: ICD10CM:A18.1 xref: ICD9CM:016 xref: MESH:D014401 xref: SNOMEDCT_US_2023_03_01:4445009 xref: UMLS_CUI:C0041333 is_a: DOID:0050598 ! extrapulmonary tuberculosis [Term] id: DOID:2150 name: ovarian lymphoma def: "An ovarian cancer that arises_from lymphocytes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23905454] subset: NCIthesaurus xref: NCI:C40021 xref: UMLS_CUI:C1518720 is_a: DOID:0060058 ! lymphoma is_a: DOID:2394 ! ovarian cancer [Term] id: DOID:2151 name: malignant ovarian surface epithelial-stromal neoplasm def: "An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary." [url:https\://www.sciencedirect.com/science/article/pii/0046817791902054] subset: NCIthesaurus xref: NCI:C40026 xref: UMLS_CUI:C1518236 is_a: DOID:2152 ! ovary epithelial cancer [Term] id: DOID:2152 name: ovary epithelial cancer def: "An ovarian cancer that is derives_from ovarian surface epithelium." [url:http\://en.wikipedia.org/wiki/Ovarian_cancer, url:http\://en.wikipedia.org/wiki/Surface_epithelial-stromal_tumor] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Ovarian Surface epithelial-Stromal tumor" EXACT [] xref: NCI:C4381 xref: SNOMEDCT_US_2023_03_01:237057005 xref: UMLS_CUI:C0341823 is_a: DOID:2394 ! ovarian cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:2153 name: ovarian Wilms' cancer def: "A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18260155] subset: NCIthesaurus synonym: "ovarian Wilms' tumor" RELATED [] xref: NCI:C40443 xref: UMLS_CUI:C1518746 is_a: DOID:2394 ! ovarian cancer [Term] id: DOID:2154 name: nephroblastoma alt_id: DOID:5177 alt_id: DOID:5180 def: "A kidney cancer that affects the kidneys and typically occuring in children." [url:http\://en.wikipedia.org/wiki/Wilms%27_tumor] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "adult nephroblastoma" EXACT [] synonym: "Wilms' tumor" RELATED [] xref: ICDO:8960/3 xref: MESH:D009396 xref: MIM:194070 xref: NCI:C27730 xref: NCI:C3267 xref: NCI:C6180 xref: SNOMEDCT_US_2023_03_01:25081006 xref: UMLS_CUI:C0027708 xref: UMLS_CUI:C1332219 xref: UMLS_CUI:C1333015 is_a: DOID:263 ! kidney cancer [Term] id: DOID:2155 name: malignant ovarian germ cell neoplasm subset: NCIthesaurus synonym: "malignant germ cell tumor of ovary" EXACT [] synonym: "malignant Ovarian germ cell tumor" EXACT [] xref: MESH:C562841 xref: NCI:C4514 xref: SNOMEDCT_US_2023_03_01:254869000 xref: UMLS_CUI:C0346180 is_a: DOID:2156 ! ovarian germ cell cancer [Term] id: DOID:2156 name: ovarian germ cell cancer def: "An ovarian cancer that originates in the germ (egg) cells of the ovary." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/ovarian-germ-cell/Patient] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "germ cell neoplasm of Ovary" EXACT [] synonym: "germ cell tumor of ovary" EXACT [] synonym: "ovarian germ cell tumor" RELATED [] xref: GARD:9330 xref: MIM:603737 xref: NCI:C3873 xref: SNOMEDCT_US_2023_03_01:237059008 xref: UMLS_CUI:C0238324 is_a: DOID:2394 ! ovarian cancer [Term] id: DOID:2158 name: obsolete lung metastasis synonym: "metastasis to lung" EXACT [] synonym: "metastatic tumor to the lung" EXACT [] synonym: "secondary malignant neoplasm of lung" EXACT [] synonym: "secondary malignant neoplasm of lung (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:216 name: dental caries alt_id: DOID:10785 alt_id: DOID:10870 alt_id: DOID:11913 def: "A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel." [url:https\://www.nidcr.nih.gov/health-info/tooth-decay] subset: NCIthesaurus synonym: "Dental caries extending into pulp" EXACT [] synonym: "Dental caries of smooth surface" EXACT [] synonym: "Dental caries pit and fissure" EXACT [] xref: EFO:0003819 xref: ICD10CM:K02 xref: ICD10CM:K02.6 xref: ICD9CM:521.0 xref: ICD9CM:521.07 xref: MESH:D003731 xref: NCI:C52593 xref: SNOMEDCT_US_2023_03_01:155632007 xref: UMLS_CUI:C0011334 xref: UMLS_CUI:C1456145 is_a: DOID:214 ! teeth hard tissue disease [Term] id: DOID:2163 name: nasal cavity disease alt_id: DOID:4728 subset: NCIthesaurus xref: NCI:C27102 xref: SNOMEDCT_US_2023_03_01:232340005 xref: UMLS_CUI:C0339820 is_a: DOID:2825 ! nose disease [Term] id: DOID:217 name: enamel caries synonym: "Dental caries limited to enamel" EXACT [] synonym: "primary dental caries" EXACT [] synonym: "simple dental cavity" EXACT [] xref: ICD9CM:521.01 xref: SNOMEDCT_US_2023_03_01:80353004 xref: UMLS_CUI:C0266853 is_a: DOID:216 ! dental caries [Term] id: DOID:2170 name: vaginitis alt_id: DOID:10769 def: "A vaginal disease that is characterized by inflammation of the vagina." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21524046] subset: NCIthesaurus xref: ICD9CM:616.1 xref: MESH:D014627 xref: NCI:C26911 xref: SNOMEDCT_US_2023_03_01:198212006 xref: SNOMEDCT_US_2023_03_01:393596009 xref: UMLS_CUI:C0042267 xref: UMLS_CUI:C0042268 is_a: DOID:121 ! vaginal disease [Term] id: DOID:2172 name: obsolete malignant eyelid tumor synonym: "malignant neoplasm of the eyelid" EXACT [] synonym: "malignant tumor of eyelid (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2173 name: eyelid benign neoplasm subset: NCIthesaurus synonym: "tumor of the eyelid" EXACT [] xref: MESH:D005142 xref: NCI:C3031 xref: SNOMEDCT_US_2023_03_01:278697001 xref: UMLS_CUI:C0015424 is_a: DOID:3165 ! skin benign neoplasm is_a: DOID:530 ! eyelid disease [Term] id: DOID:2174 name: ocular cancer alt_id: DOID:9985 def: "A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye." [url:http\://en.wikipedia.org/wiki/Eye, url:http\://en.wikipedia.org/wiki/Eye_neoplasm] subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "eye neoplasm" EXACT [] synonym: "malignant eye neoplasm" EXACT [] synonym: "neoplasm of eye" EXACT [] synonym: "neoplasm of eye proper" EXACT [] synonym: "Ocular tumor" EXACT [] xref: ICD9CM:190.8 xref: MESH:D005134 xref: NCI:C3030 xref: SNOMEDCT_US_2023_03_01:126995000 xref: SNOMEDCT_US_2023_03_01:188277006 xref: UMLS_CUI:C0015414 xref: UMLS_CUI:C0153632 is_a: DOID:0060116 ! sensory system cancer is_a: DOID:5614 ! eye disease [Term] id: DOID:2176 name: carbuncle alt_id: DOID:11083 alt_id: DOID:11225 alt_id: DOID:11534 alt_id: DOID:13284 alt_id: DOID:13537 alt_id: DOID:13688 alt_id: DOID:2175 alt_id: DOID:2380 synonym: "carbuncle and furuncle of any part of face except eye" EXACT [] synonym: "Carbuncle and furuncle of buttock" EXACT [] synonym: "Carbuncle and furuncle of face" EXACT [] synonym: "carbuncle and furuncle of foot" EXACT [] synonym: "carbuncle and furuncle of gluteal region" EXACT [] synonym: "carbuncle and furuncle of hand" EXACT [] synonym: "carbuncle and furuncle of leg except foot" EXACT [] synonym: "carbuncle and furuncle of neck" EXACT [] synonym: "carbuncle and furuncle of trunk" EXACT [] synonym: "carbuncle and furuncle of upper arm and forearm" EXACT [] xref: ICD9CM:680.9 xref: UMLS_CUI:C0007079 is_a: DOID:4223 ! pyoderma [Term] id: DOID:2177 name: obsolete complications mainly related to pregnancy alt_id: DOID:11640 alt_id: DOID:11641 alt_id: DOID:12099 alt_id: DOID:12100 alt_id: DOID:12496 alt_id: DOID:12497 alt_id: DOID:12648 alt_id: DOID:12649 alt_id: DOID:12947 alt_id: DOID:12948 alt_id: DOID:12949 alt_id: DOID:9624 alt_id: DOID:9625 alt_id: DOID:9627 alt_id: DOID:9628 alt_id: DOID:9629 synonym: "antepartum gonorrhea" EXACT [] synonym: "antepartum malaria" EXACT [] synonym: "antepartum syphilis" EXACT [] synonym: "Asymptomatic bacteriuria antepartum" EXACT [] synonym: "Asymptomatic bacteriuria in pregnancy, with delivery" EXACT [] synonym: "Asymptomatic bacteriuria postpartum" EXACT [] synonym: "Gonorrhea + pregnancy" EXACT [] synonym: "gonorrhea complicating pregnancy, childbirth, or the puerperium" EXACT [] synonym: "gonorrhea of mother with delivery" EXACT [] synonym: "Infectious and parasitic conditions in the mother classifiable elsewhere, but complicating pregnancy, childbirth, or the puerperium" EXACT [] synonym: "malaria complicating pregnancy, childbirth, or the puerperium" EXACT [] synonym: "malaria of mother with delivery" EXACT [] synonym: "postpartum gonorrhea" EXACT [] synonym: "postpartum malaria" EXACT [] synonym: "postpartum syphilis" EXACT [] synonym: "Syphilis + pregnancy" EXACT [] synonym: "Syphilis complicating pregnancy, childbirth, or the puerperium" EXACT [] synonym: "syphilis of mother, complicating pregnancy, with delivery" EXACT [] is_obsolete: true [Term] id: DOID:2179 name: obsolete diabetes mellitus insulin dependent type, uncontrolled, with ophthalmic manifestations synonym: "Diabetes mellitus juvenile type, uncontrolled, with ophthalmic manifestations" EXACT [] synonym: "Diabetes mellitus type I [juvenile type], uncontrolled, with ophthalmic manifestations" EXACT [] is_obsolete: true [Term] id: DOID:218 name: ascending colon cancer synonym: "Ca ascending colon" EXACT [] synonym: "malignant neoplasm of right colon" EXACT [] synonym: "malignant tumor of ascending colon" EXACT [] xref: ICD10CM:C18.2 xref: ICD9CM:153.6 xref: SNOMEDCT_US_2023_03_01:93683002 xref: UMLS_CUI:C0153439 is_a: DOID:219 ! colon cancer [Term] id: DOID:2180 name: obsolete diabetic oculopathy is_obsolete: true [Term] id: DOID:2181 name: post-surgical hypoinsulinemia synonym: "Postsurgical hypoinsulinemia" EXACT [] xref: ICD10CM:E89.1 xref: ICD9CM:251.3 xref: SNOMEDCT_US_2023_03_01:190437000 xref: UMLS_CUI:C0154190 is_a: DOID:1428 ! endocrine pancreas disease [Term] id: DOID:2186 name: obsolete macrocephaly alt_id: DOID:14733 synonym: "(Macroencephaly) or (megalencephaly) or (enlarged brain) or (macrocephaly)" EXACT [] synonym: "Cole-Hughes syndrome" EXACT [] synonym: "Macrocephaly (disorder)" EXACT [] synonym: "MACROCEPHALY, benign familial" EXACT [] synonym: "megacephaly" EXACT [] is_obsolete: true [Term] id: DOID:2187 name: amelogenesis imperfecta def: "A dental enamel hypoplasia characterized by abnormal enamel formation." [url:http\://en.wikipedia.org/wiki/Amelogenesis_imperfecta, url:http\://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/501/viewAbstract] comment: Xref MGI. subset: DO_rare_slim xref: GARD:5791 xref: ICD10CM:K00.5 xref: MESH:D000567 xref: MIM:PS104500 xref: ORDO:88661 xref: SNOMEDCT_US_2023_03_01:78494001 xref: UMLS_CUI:C0002452 is_a: DOID:693 ! dental enamel hypoplasia [Term] id: DOID:219 name: colon cancer def: "A colorectal cancer that is located_in the colon." [url:http\://www.cancer.gov/dictionary?CdrID=44237, url:https\://www.genome.gov/Genetic-Disorders/Colon-Cancer] subset: DO_cancer_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim xref: ICD10CM:C18 xref: ICD9CM:153 xref: MESH:D003110 xref: NCI:C9242 xref: SNOMEDCT_US_2023_03_01:363406005 xref: UMLS_CUI:C0007102 is_a: DOID:5353 ! colonic disease is_a: DOID:9256 ! colorectal cancer [Term] id: DOID:221 name: acute perichondritis of pinna def: "A perichondritis of auricle with a sudden onset and a short course." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001253.htm] xref: ICD9CM:380.01 xref: SNOMEDCT_US_2023_03_01:45855004 xref: UMLS_CUI:C0155390 is_a: DOID:222 ! perichondritis of auricle [Term] id: DOID:2211 name: factor XIII deficiency def: "A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor." [url:http\://omim.org/entry/613225, url:http\://omim.org/entry/613235, url:https\://ghr.nlm.nih.gov/condition/factor-xiii-deficiency#inheritance] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "deficiency, Laki-Lorand factor" EXACT [] synonym: "Factor XIII deficiency disease" EXACT [] synonym: "Hereditary factor XIII deficiency disease" EXACT [] xref: GARD:10766 xref: MESH:D005177 xref: MIM:613225 xref: MIM:613235 xref: NCI:C98941 xref: SNOMEDCT_US_2023_03_01:50189006 xref: UMLS_CUI:C0015530 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:2212 name: obsolete coagulation protein disease is_obsolete: true [Term] id: DOID:2213 name: hemorrhagic disease synonym: "Hemorrhagic diathesis" EXACT [] xref: ICD10CM:D69.9 xref: ICD9CM:287.9 xref: MESH:D006474 xref: SNOMEDCT_US_2023_03_01:268884000 xref: UMLS_CUI:C0019087 is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:2214 name: obsolete inherited blood coagulation disease xref: MESH:D025861 xref: ORDO:98429 xref: UMLS_CUI:C0852077 is_obsolete: true [Term] id: DOID:2215 name: factor VII deficiency def: "A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade." [url:http\://omim.org/entry/227500, url:https\://ghr.nlm.nih.gov/condition/factor-vii-deficiency#genes] subset: DO_rare_slim subset: NCIthesaurus synonym: "deficiency, stable" EXACT [] xref: GARD:2238 xref: ICD10CM:D68.2 xref: MESH:D005168 xref: MIM:227500 xref: NCI:C131631 xref: ORDO:327 xref: SNOMEDCT_US_2023_03_01:154820003 xref: UMLS_CUI:C0015503 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1247 ! blood coagulation disease property_value: exactMatch "MIM:227500" xsd:string property_value: exactMatch "ORDO:327" xsd:string [Term] id: DOID:2216 name: factor V deficiency comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "deficiency, labile" EXACT [] synonym: "Hereditary hypoproaccelerinaemia" EXACT [] synonym: "Labile factor deficiency" EXACT [] synonym: "Proaccelerin deficiency" EXACT [] xref: GARD:2237 xref: ICD10CM:D68.2 xref: MESH:D005166 xref: MIM:227400 xref: NCI:C98938 xref: SNOMEDCT_US_2023_03_01:191284007 xref: UMLS_CUI:C0015499 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:2217 name: Bernard-Soulier syndrome def: "A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10706630, url:https\://www.ncbi.nlm.nih.gov/pubmed/8481514, url:https\://www.ncbi.nlm.nih.gov/pubmed/8703016, url:https\://www.ncbi.nlm.nih.gov/pubmed/9616133] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Bernard - Soulier thrombopathy" EXACT [] synonym: "Bernard Soulier syndrome" EXACT [] synonym: "Giant platelet syndrome" EXACT [] synonym: "Hemorrhagic dystrophic thrombocytopenia" EXACT [] synonym: "Thrombopathy, Bernard-Soulier" EXACT [] xref: MESH:D001606 xref: MIM:231200 xref: NCI:C84595 xref: ORDO:274 xref: SNOMEDCT_US_2023_03_01:54569005 xref: UMLS_CUI:C0005129 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:2218 name: blood platelet disease def: "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction." [url:https\://www.merckmanuals.com/home/blood-disorders/platelet-disorders/overview-of-platelet-disorders] subset: NCIthesaurus synonym: "platelet disorder" EXACT [] synonym: "Thrombocytopathy" EXACT [] xref: MESH:D001791 xref: NCI:C131634 xref: SNOMEDCT_US_2023_03_01:22716005 xref: UMLS_CUI:C0005818 is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:2219 name: Glanzmann's thrombasthenia def: "A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16463284, url:https\://www.ncbi.nlm.nih.gov/pubmed/2014236, url:https\://www.ncbi.nlm.nih.gov/pubmed/9160670] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "BDPLT2" EXACT OMO:0003012 [] synonym: "deficiency of glycoprotein complex IIb-IIIa" EXACT [] synonym: "deficiency of GP IIb-IIIa complex" EXACT [] synonym: "deficiency of platelet fibrinogen receptor" EXACT [] synonym: "Glanzmann thrombasthenia" EXACT [] synonym: "Glycoprotein IIb/IIIa defect" EXACT [] synonym: "platelet glycoprotein IIb-IIIa deficiency" EXACT [] synonym: "platelet-type bleeding disorder 2" EXACT [] synonym: "thrombasthenia of Glanzmann and Naegeli" EXACT [] synonym: "Thrombocytasthenia" EXACT [] xref: GARD:2478 xref: ICD10CM:D69.1 xref: MESH:D013915 xref: MIM:273800 xref: NCI:C61249 xref: ORDO:849 xref: SNOMEDCT_US_2023_03_01:32942005 xref: UMLS_CUI:C0040015 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:222 name: perichondritis of auricle def: "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it." [url:http\://www.merck.com/mmhe/sec19/ch219/ch219d.html?qt=perichondritis&alt=sh, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001253.htm] synonym: "Perichondritis and chondritis of pinna" EXACT [] synonym: "Perichondritis of pinna" EXACT [] xref: ICD10CM:H61.0 xref: ICD9CM:380.00 xref: SNOMEDCT_US_2023_03_01:155210008 xref: UMLS_CUI:C0155389 is_a: DOID:9463 ! otitis externa [Term] id: DOID:2222 name: factor X deficiency def: "A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood." [url:https\://rarediseases.org/rare-diseases/factor-x-deficiency/] subset: DO_rare_slim subset: NCIthesaurus synonym: "disease, Stuart-Prower" EXACT [] xref: GARD:6404 xref: MESH:D005171 xref: MIM:227600 xref: NCI:C131632 xref: ORDO:328 xref: SNOMEDCT_US_2023_03_01:76642003 xref: UMLS_CUI:C0015519 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1247 ! blood coagulation disease property_value: exactMatch "MIM:227600" xsd:string property_value: exactMatch "ORDO:328" xsd:string [Term] id: DOID:2223 name: platelet storage pool deficiency subset: DO_rare_slim synonym: "Dense body defect" EXACT [] synonym: "Platelet dense granule deficiency" EXACT [] synonym: "Platelet storage pool defect" EXACT [] xref: GARD:5034 xref: MESH:D010981 xref: MIM:185050 xref: SNOMEDCT_US_2023_03_01:234474009 xref: UMLS_CUI:C0032197 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:2224 name: essential thrombocythemia def: "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets." [url:http\://www.webmd.com/a-to-z-guides/thrombocythemia-essential] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Essential thrombocythaemia" EXACT [] synonym: "familial thrombocytosis" EXACT [] synonym: "hemorrhagic thrombocythemia" EXACT [] synonym: "hereditary thrombocythemia" EXACT [] synonym: "primary Thrombocytosis" EXACT [] xref: GARD:6594 xref: ICD10CM:D47.3 xref: ICD9CM:238.71 xref: ICDO:9962/3 xref: MESH:D013920 xref: MIM:187950 xref: MIM:601977 xref: MIM:614521 xref: NCI:C3407 xref: ORDO:3318 xref: ORDO:71493 xref: SNOMEDCT_US_2023_03_01:234499005 xref: UMLS_CUI:C0040028 is_a: DOID:2226 ! myeloproliferative neoplasm [Term] id: DOID:2225 name: obsolete megakaryocytic tumor comment: A legacy term, obsoleted. xref: NCI:C7066 xref: UMLS_CUI:C1334687 is_obsolete: true [Term] id: DOID:2226 name: myeloproliferative neoplasm alt_id: DOID:6002 def: "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood." [url:http\://www.bloodjournal.org/content/114/5/937.long, url:http\://www.cancer.gov/cancertopics/types/myeloproliferative] subset: DO_cancer_slim subset: NCIthesaurus synonym: "chronic myeloproliferative disease" EXACT [] synonym: "CMPD" EXACT OMO:0003012 [] synonym: "CMPD, U" EXACT OMO:0003012 [] xref: ICD10CM:D47.1 xref: ICDO:9960/3 xref: NCI:C4345 xref: SNOMEDCT_US_2023_03_01:115248004 xref: UMLS_CUI:C1292778 is_a: DOID:0070004 ! myeloid neoplasm [Term] id: DOID:2227 name: obsolete malignant neoplasm of lymphatic and hemopoietic tissue is_obsolete: true [Term] id: DOID:2228 name: thrombocytosis def: "A blood platelet disease that is characterized by the presence of high platelet counts in the blood." [url:http\://en.wikipedia.org/wiki/Thrombocytosis, url:http\://my.clevelandclinic.org/disorders/thrombocytosis/hic_thrombocytosis.aspx] subset: NCIthesaurus synonym: "Thrombocythaemia" EXACT [] xref: ICD10CM:D75.83 xref: MESH:D013922 xref: NCI:C35530 xref: SNOMEDCT_US_2023_03_01:165557006 xref: UMLS_CUI:C0836924 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:2229 name: factor XI deficiency def: "A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2." [url:https\://ghr.nlm.nih.gov/condition/factor-xi-deficiency, url:https\://www.omim.org/entry/612416] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Congenital factor XI deficiency" EXACT [] synonym: "hemophilia C" EXACT [] synonym: "Hereditary factor XI deficiency disease" EXACT [] synonym: "plasma thromboplastin antecedent deficiency" EXACT [] synonym: "Rosenthal's disease" EXACT [] xref: GARD:9670 xref: ICD10CM:D68.1 xref: ICD9CM:286.2 xref: MESH:D005173 xref: MIM:612416 xref: NCI:C84705 xref: SNOMEDCT_US_2023_03_01:49762007 xref: UMLS_CUI:C0015523 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:223 name: basilar artery insufficiency subset: NCIthesaurus synonym: "Basilar artery syndrome" EXACT [] xref: ICD9CM:435.0 xref: MESH:D014715 xref: NCI:C34413 xref: SNOMEDCT_US_2023_03_01:195197005 xref: UMLS_CUI:C0004812 is_a: DOID:0050828 ! artery disease is_a: DOID:224 ! transient cerebral ischemia is_a: DOID:225 ! syndrome [Term] id: DOID:2230 name: obsolete hemophilia synonym: "Haemophilia" EXACT [] synonym: "hemophilia" EXACT [] synonym: "Hemophilia (disorder)" EXACT [] synonym: "Hemophilia NOS" EXACT [] is_obsolete: true [Term] id: DOID:2231 name: factor XII deficiency def: "A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33." [url:http\://omim.org/entry/234000, url:https\://rarediseases.org/rare-diseases/factor-xii-deficiency/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "deficiency, Hageman" EXACT [] synonym: "Factor XII deficiency disease" EXACT [] synonym: "Hageman Factor deficiency" EXACT [] xref: GARD:6558 xref: MESH:D005175 xref: MIM:234000 xref: NCI:C131740 xref: ORDO:330 xref: SNOMEDCT_US_2023_03_01:46981006 xref: UMLS_CUI:C0015526 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:2232 name: obsolete coagulation factor deficiency is_obsolete: true [Term] id: DOID:2233 name: obsolete partial epilepsy with impairment of consciousness is_obsolete: true [Term] id: DOID:2234 name: focal epilepsy def: "An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response." [url:http\://en.wikipedia.org/wiki/Epilepsy, url:http\://en.wikipedia.org/wiki/Focal_epilepsy, url:http\://www.aafp.org/afp/2001/0701/p91.html] subset: NCIthesaurus synonym: "localisation-related epilepsy" EXACT [] synonym: "partial epilepsy" EXACT [] xref: MESH:D004828 xref: NCI:C122812 xref: SNOMEDCT_US_2023_03_01:230381009 xref: UMLS_CUI:C0014547 is_a: DOID:1826 ! epilepsy [Term] id: DOID:2235 name: prothrombin deficiency def: "A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11." [url:https\://ghr.nlm.nih.gov/condition/prothrombin-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/30306070, url:https\://www.omim.org/entry/613679, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=325] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Congenital factor II deficiency" EXACT [] synonym: "Factor II deficiency" RELATED [] synonym: "Hereditary factor II deficiency disease" EXACT [] synonym: "hypoprothrombinemia" EXACT [] xref: MESH:C562724 xref: MIM:613679 xref: NCI:C26799 xref: ORDO:325 xref: SNOMEDCT_US_2023_03_01:33297000 xref: UMLS_CUI:C0272317 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:2236 name: congenital afibrinogenemia def: "A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I)." [url:https\://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia#synonyms] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Factor I deficiency" EXACT [] synonym: "Fibrinogen deficiency" EXACT [] xref: GARD:5761 xref: MESH:D000347 xref: MIM:202400 xref: NCI:C98130 xref: SNOMEDCT_US_2023_03_01:278504009 xref: UMLS_CUI:C0001733 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:2237 name: hepatitis alt_id: DOID:12352 alt_id: DOID:14551 alt_id: DOID:1706 alt_id: DOID:1707 alt_id: DOID:2238 subset: NCIthesaurus synonym: "acute and subacute liver necrosis" EXACT [] synonym: "acute hepatitis" EXACT [] synonym: "acute/subac. necrosis of liver" EXACT [] synonym: "animal hepatitis" EXACT [] synonym: "chronic hepatitis" EXACT [] synonym: "chronic persistent hepatitis" EXACT [] xref: ICD10CM:K73.9 xref: ICD9CM:570 xref: ICD9CM:571.4 xref: ICD9CM:571.41 xref: MESH:D006521 xref: NCI:C82978 xref: SNOMEDCT_US_2023_03_01:155813004 xref: SNOMEDCT_US_2023_03_01:197268000 xref: SNOMEDCT_US_2023_03_01:266539002 xref: UMLS_CUI:C0001308 xref: UMLS_CUI:C0019189 xref: UMLS_CUI:C0149519 is_a: DOID:409 ! liver disease [Term] id: DOID:2239 name: granulomatous hepatitis subset: NCIthesaurus xref: NCI:C27015 xref: SNOMEDCT_US_2023_03_01:86514004 xref: UMLS_CUI:C0235369 is_a: DOID:2237 ! hepatitis [Term] id: DOID:224 name: transient cerebral ischemia alt_id: DOID:2315 def: "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death." [url:https\://en.wikipedia.org/wiki/Transient_ischemic_attack] subset: NCIthesaurus synonym: "TIA" EXACT OMO:0003012 [] synonym: "TIA - Transient ischaemic attack" EXACT [] synonym: "Transient cerebral ischaemia" EXACT [] synonym: "transient ischemic attack" EXACT [] synonym: "Transient ischemic attacks" EXACT [] xref: ICD10CM:G45.9 xref: MESH:D002546 xref: NCI:C50781 xref: SNOMEDCT_US_2023_03_01:195196001 xref: UMLS_CUI:C0007787 is_a: DOID:2316 ! brain ischemia [Term] id: DOID:2242 name: obsolete mild recurrent major depression synonym: "Major depressive disorder, recurrent episode, mild degree" EXACT [] synonym: "Mild recurrent major depression (disorder)" EXACT [] synonym: "recurrent major depressive episodes, mild (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2247 name: spondylosis alt_id: DOID:8708 alt_id: DOID:8709 alt_id: DOID:8888 alt_id: DOID:8905 alt_id: DOID:9949 def: "A bone structure disease that involves degeneration between vertebra located_in vertebral column." [url:http\://en.wikipedia.org/wiki/Spondylosis, url:http\://www.mayoclinic.com/health/cervical-spondylosis/DS00697, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000436.htm, url:http\://www.spine-health.com/conditions/back-pain/spondylosis-what-it-actually-means, url:https\://www.spineuniverse.com/conditions/spondylosis/spondylosis] synonym: "Lumbar spondylosis with myelopathy" EXACT [] synonym: "lumbosacral spondylosis without myelopathy" EXACT [] synonym: "Spondylogenic compression of lumbar spinal cord" EXACT [] synonym: "Spondylogenic compression of thoracic spinal cord" EXACT [] synonym: "spondylosis with myelopathy" EXACT [] synonym: "Thoracic or lumbar spondylosis with myelopathy" EXACT [] xref: ICD10CM:M47 xref: ICD9CM:721.9 xref: MESH:D055009 xref: MIM:184300 xref: SNOMEDCT_US_2023_03_01:8847002 xref: UMLS_CUI:C0038019 is_a: DOID:0060564 ! spinal disease is_a: DOID:0080010 ! bone structure disease [Term] id: DOID:225 name: syndrome def: "A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syndrome] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim subset: NCIthesaurus xref: MESH:D013577 xref: NCI:C28193 xref: SNOMEDCT_US_2023_03_01:64572001 xref: UMLS_CUI:C0039082 is_a: DOID:4 ! disease [Term] id: DOID:2251 name: hypertrophic elongation of cervix xref: ICD10CM:N88.4 xref: ICD9CM:622.6 xref: SNOMEDCT_US_2023_03_01:35863000 xref: UMLS_CUI:C0020561 is_a: DOID:2253 ! cervix disease [Term] id: DOID:2253 name: cervix disease def: "An uterine disease that is located_in the cervix." [url:https\://www.mdedge.com/obgmanagement/article/136739/gynecology/2017-update-cervical-disease] subset: NCIthesaurus xref: MESH:D002577 xref: NCI:C40241 xref: SNOMEDCT_US_2023_03_01:63339007 xref: UMLS_CUI:C0007867 is_a: DOID:345 ! uterine disease [Term] id: DOID:2255 name: obsolete short rib-polydactyly syndrome is_obsolete: true [Term] id: DOID:2256 name: osteochondrodysplasia alt_id: DOID:1764 def: "A bone development disease that results_in defective development of cartilage or bone." [url:http\://en.wikipedia.org/wiki/Osteochondrodysplasia] subset: NCIthesaurus synonym: "Cartilage Development disorder" EXACT [] synonym: "chondrodystrophy" EXACT [] synonym: "Congenital anomaly of cartilage" EXACT [] synonym: "Osteochondrodysplasia syndrome" EXACT [] synonym: "skeletal dysplasia" EXACT [] xref: ICD10CM:Q78.9 xref: ICD9CM:756.4 xref: MESH:D010009 xref: NCI:C34466 xref: NCI:C84978 xref: SNOMEDCT_US_2023_03_01:205510001 xref: SNOMEDCT_US_2023_03_01:67988000 xref: UMLS_CUI:C0008449 xref: UMLS_CUI:C0029422 is_a: DOID:0080006 ! bone development disease is_a: DOID:1222 ! cartilage disease [Term] id: DOID:2257 name: obsolete primary Spirochaetales infectious disease comment: Was annotated with alternate_id: DOID:0060034 (last included in release 2023-08-08) but has been removed because the IRI was inadvertently reused for a new disease (starting with release v2022-11-30) and the original disease for the IRI only existed in the ontology for 2 days (2010-06-08 to 10) while the ontology was still in the alpha phase of development [JAB]. subset: gram-negative_bacterial_infectious_disease synonym: "Spirochetes infectious disease" EXACT [] is_obsolete: true [Term] id: DOID:2265 name: obsolete Treponema infectious disease subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Treponema infection" EXACT [] synonym: "Treponemal disease" EXACT [] synonym: "Treponemal infection" EXACT [] synonym: "Treponemal infectious disease" EXACT [] is_obsolete: true [Term] id: DOID:227 name: ankylosis def: "An arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself." [url:http\://en.wikipedia.org/wiki/Ankylosis] subset: NCIthesaurus xref: ICD10CM:M24.6 xref: ICD9CM:718.5 xref: MESH:D000844 xref: NCI:C171941 xref: SNOMEDCT_US_2023_03_01:36504009 xref: UMLS_CUI:C0003090 is_a: DOID:381 ! arthropathy property_value: exactMatch "MESH:D000844" xsd:string [Term] id: DOID:2271 name: obsolete oropharyngeal candidiasis def: "A candidiasis that involves fungal infection of the oropharynx in immunocompromised patients caused by Candida species resulting in formation of white plaques on the buccal mucosa, tongue, gums, palate, or pharynx. The symptoms include burning or dryness of the mouth, loss of taste, and pain on swallowing." [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/] synonym: "Oropharyngeal Candidiasis" EXACT [] synonym: "oropharyngeal thrush" EXACT [] is_obsolete: true [Term] id: DOID:2272 name: vulvovaginal candidiasis def: "A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge." [url:http\://en.wikipedia.org/wiki/Vulvovaginal_candidiasis, url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Candidal cervix" EXACT [] synonym: "Candidal vulvovaginitis" EXACT [] synonym: "Candidiasis of vulva and vagina" EXACT [] synonym: "Monilial vulvovaginitis" EXACT [] xref: ICD10CM:B37.3 xref: ICD9CM:112.1 xref: MESH:D002181 xref: NCI:C2914 xref: SNOMEDCT_US_2023_03_01:154404004 xref: UMLS_CUI:C0700345 is_a: DOID:121 ! vaginal disease is_a: DOID:1508 ! candidiasis [Term] id: DOID:2273 name: vulvovaginitis def: "A female reproductive system disease that is characterized by inflammation of the vagina and vulva." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26001874] subset: NCIthesaurus synonym: "Vulvo-vaginitis" EXACT [] xref: ICD10CM:N76.0 xref: MESH:D014848 xref: NCI:C35131 xref: SNOMEDCT_US_2023_03_01:155981006 xref: UMLS_CUI:C0042998 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:2275 name: pharyngitis alt_id: DOID:10455 alt_id: DOID:11586 alt_id: DOID:11588 alt_id: DOID:938 alt_id: DOID:939 def: "An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever." [url:http\://en.wikipedia.org/wiki/Pharyngitis, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A5016] subset: NCIthesaurus synonym: "acute pharyngitis" EXACT [] synonym: "acute sore throat" EXACT [] synonym: "chronic pharyn/nasopharyngitis" EXACT [] synonym: "chronic pharyngitis" EXACT [] synonym: "chronic pharyngitis and nasopharyngitis" EXACT [] synonym: "chronic sore throat" EXACT [] synonym: "Inflamed throat" EXACT [] synonym: "Persistent sore throat" EXACT [] synonym: "pharyngeal disease" RELATED [] synonym: "Pharyngeal disorder" EXACT [] synonym: "Pharyngitis - acute" EXACT [] synonym: "Sore throat - chronic" EXACT [] xref: ICD10CM:J02 xref: ICD9CM:462 xref: ICD9CM:472 xref: ICD9CM:478.20 xref: MESH:D010608 xref: MESH:D010612 xref: NCI:C26850 xref: NCI:C26851 xref: NCI:C34355 xref: SNOMEDCT_US_2023_03_01:195654001 xref: SNOMEDCT_US_2023_03_01:195763009 xref: SNOMEDCT_US_2023_03_01:37616004 xref: SNOMEDCT_US_2023_03_01:75860007 xref: UMLS_CUI:C0001344 xref: UMLS_CUI:C0031345 xref: UMLS_CUI:C0031350 xref: UMLS_CUI:C0155824 is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:2277 name: gonadal disease def: "An endocrine system disease that is located_in the gonads." [url:https\://www.nature.com/subjects/gonadal-disorders] subset: NCIthesaurus xref: MESH:D006058 xref: NCI:C26786 xref: UMLS_CUI:C0018050 is_a: DOID:28 ! endocrine system disease [Term] id: DOID:2279 name: obsolete joint derangement is_obsolete: true [Term] id: DOID:2280 name: hidradenitis suppurativa def: "A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402905/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Acne inversa, familial" EXACT [] xref: GARD:6658 xref: ICD10CM:L73.2 xref: MESH:D017497 xref: MIM:142690 xref: MIM:613736 xref: MIM:613737 xref: NCI:C128429 xref: SNOMEDCT_US_2023_03_01:201204008 xref: UMLS_CUI:C0162836 is_a: DOID:2282 ! hidradenitis [Term] id: DOID:2282 name: hidradenitis def: "A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C112190] subset: NCIthesaurus synonym: "Hydradenitis" EXACT [] xref: ICD9CM:705.83 xref: MESH:D016575 xref: NCI:C112190 xref: SNOMEDCT_US_2023_03_01:267866004 xref: UMLS_CUI:C0085160 is_a: DOID:1383 ! sweat gland disease [Term] id: DOID:2283 name: keratopathy subset: NCIthesaurus xref: NCI:C27012 xref: UMLS_CUI:C0235270 is_a: DOID:10124 ! corneal disease [Term] id: DOID:2286 name: capillary lymphangioma subset: DO_cancer_slim subset: NCIthesaurus synonym: "cutaneous lymphangioma" RELATED [] xref: ICDO:9171/0 xref: NCI:C27509 xref: SNOMEDCT_US_2023_03_01:445492005 xref: UMLS_CUI:C1333176 is_a: DOID:1271 ! capillary disease is_a: DOID:1475 ! lymphangioma [Term] id: DOID:229 name: female reproductive system disease def: "A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes." [url:http\://en.wikipedia.org/wiki/Female_reproductive_system, url:http\://en.wikipedia.org/wiki/Reproductive_system_disease] xref: ICD9CM:629.9 xref: MESH:D005831 xref: SNOMEDCT_US_2023_03_01:38233001 xref: UMLS_CUI:C0017411 is_a: DOID:15 ! reproductive system disease [Term] id: DOID:2297 name: leptospirosis alt_id: DOID:11348 def: "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly." [url:http\://en.wikipedia.org/wiki/Leptospirosis] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Fort Bragg fever" EXACT [] synonym: "Leptospirosis icterohaemorrhagica" EXACT [] synonym: "nanukayami fever" EXACT [] synonym: "Rat Catcher's Yellows" EXACT [] synonym: "spirochetal jaundice" EXACT [] synonym: "Weil's disease" EXACT [] xref: GARD:7881 xref: ICD10CM:A27 xref: ICD10CM:A27.0 xref: ICD9CM:100 xref: ICD9CM:100.0 xref: MESH:D007922 xref: MESH:D014895 xref: NCI:C84825 xref: SNOMEDCT_US_2023_03_01:154391003 xref: SNOMEDCT_US_2023_03_01:398067003 xref: UMLS_CUI:C0023364 xref: UMLS_CUI:C0043102 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:230 name: lateral sclerosis def: "A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs." [url:http\://en.wikipedia.org/wiki/Primary_lateral_sclerosis, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/645/viewAbstract] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "adult-onset primary lateral sclerosis" EXACT [] synonym: "primary lateral sclerosis" EXACT [] xref: ICD10CM:G12.23 xref: ICD9CM:335.24 xref: MESH:D016472 xref: MIM:611637 xref: NCI:C129933 xref: ORDO:35689 xref: SNOMEDCT_US_2023_03_01:81211007 xref: UMLS_CUI:C0154682 is_a: DOID:231 ! motor neuron disease [Term] id: DOID:2300 name: spondylolysis def: "A bone structure disease that involves a defect located_in lumbar vertebral column." [url:http\://en.wikipedia.org/wiki/Spondylolysis, url:http\://my.clevelandclinic.org/disorders/back_pain/hic_spondylolysis.aspx, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00053, url:http\://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm] subset: NCIthesaurus xref: ICD10CM:M43.0 xref: MESH:D013169 xref: NCI:C35034 xref: SNOMEDCT_US_2023_03_01:203688008 xref: UMLS_CUI:C0038018 is_a: DOID:0060564 ! spinal disease is_a: DOID:0080010 ! bone structure disease [Term] id: DOID:2301 name: atrophy of prostate xref: ICD9CM:602.2 xref: SNOMEDCT_US_2023_03_01:29524003 xref: UMLS_CUI:C0156296 is_a: DOID:47 ! prostate disease [Term] id: DOID:2303 name: stereotypic movement disorder def: "A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking." [url:https\://www.psychologytoday.com/us/conditions/stereotypic-movement-disorder] synonym: "Stereotyped repetitive movements" EXACT [] synonym: "Stereotypy habit disorder" EXACT [] xref: ICD10CM:F98.4 xref: ICD9CM:307.3 xref: MESH:D019956 xref: SNOMEDCT_US_2023_03_01:5507002 xref: UMLS_CUI:C0038273 is_a: DOID:0060038 ! specific developmental disorder [Term] id: DOID:231 name: motor neuron disease def: "A neurodegenerative disease that is located_in the motor neurons." [url:http\://en.wikipedia.org/wiki/Motor_neuron_disease] subset: DO_FlyBase_slim xref: ICD10CM:G12.2 xref: ICD9CM:335.2 xref: MESH:D016472 xref: SNOMEDCT_US_2023_03_01:37340000 xref: UMLS_CUI:C0085084 is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:2312 name: nocardiosis def: "An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy." [url:http\://en.wikipedia.org/wiki/Nocardiosis] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "Nocardia infectious disease" EXACT [] xref: GARD:7210 xref: ICD10CM:A43 xref: MESH:D009617 xref: NCI:C171147 xref: SNOMEDCT_US_2023_03_01:29227009 xref: UMLS_CUI:C0028242 is_a: DOID:0050340 ! opportunistic bacterial infectious disease [Term] id: DOID:2313 name: obsolete primary Actinomycetales infectious disease subset: gram-positive_bacterial_infectious_disease synonym: "Actinomycetales infection" EXACT [] is_obsolete: true [Term] id: DOID:2314 name: malt worker's lung def: "An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley." [url:http\://en.wikipedia.org/wiki/hypersensitivity_pneumonitis, url:http\://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/five/000061759.htm] synonym: "alveolitis due to aspergillus clavatus" EXACT [] synonym: "malt worker lung" EXACT [] synonym: "Malt workers' lung" EXACT [] synonym: "Malt-workers' lung" EXACT [] xref: ICD10CM:J67.4 xref: ICD9CM:495.4 xref: SNOMEDCT_US_2023_03_01:25897000 xref: UMLS_CUI:C0155888 is_a: DOID:841 ! extrinsic allergic alveolitis [Term] id: DOID:2316 name: brain ischemia def: "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand." [url:https\://en.wikipedia.org/wiki/Brain_ischemia, url:https\://www.columbianeurosurgery.org/conditions/cerebral-ischemia/] synonym: "cerebral ischemia" EXACT [] synonym: "Ischaemic encephalopathy" EXACT [] synonym: "Ischemic encephalopathy" EXACT [] xref: MESH:D002545 xref: SNOMEDCT_US_2023_03_01:193049009 xref: UMLS_CUI:C0007786 is_a: DOID:326 ! ischemia is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:2320 name: obstructive lung disease def: "A lung disease that is characterized by narrowing of pulmonary airways." [url:https\://lunginstitute.com/blog/the-difference-between-obstructive-and-restrictive-lung-disease/] synonym: "respiratory airway obstruction" EXACT [] xref: MESH:D008173 xref: UMLS_CUI:C0600260 is_a: DOID:850 ! lung disease [Term] id: DOID:2321 name: obsolete dyspepsia comment: doid/symp duplicate - moved to Symptom Ontology is_obsolete: true [Term] id: DOID:2323 name: obsolete prostate non-neoplastic disease is_obsolete: true [Term] id: DOID:2324 name: obsolete coxsackie meningitis def: "An Enterovirus infectious disease that results_in inflammation located_in meningeal cluster, has_material_basis_in Human enterovirus B, which is transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, and has_symptom neck pain." [url:http\://emedicine.medscape.com/article/215241-overview, url:http\://kidshealth.org/parent/infections/bacterial_viral/coxsackie.html#] synonym: "Coxsackie meningitis (disorder)" EXACT [] synonym: "Coxsackie viral meningitis" EXACT [] synonym: "Meningitis due to coxsackie virus" EXACT [] is_obsolete: true [Term] id: DOID:2325 name: obsolete enterovirus meningitis is_obsolete: true [Term] id: DOID:2326 name: gastroenteritis alt_id: DOID:4094 alt_id: DOID:5269 def: "A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen." [url:http\://www.merck.com/mmhe/sec09/ch122/ch122a.html] subset: NCIthesaurus synonym: "cholera morbus" EXACT [] synonym: "infectious colitis, enteritis and gastroenteritis" EXACT [] xref: ICD10CM:K52.9 xref: MESH:D005759 xref: NCI:C34632 xref: SNOMEDCT_US_2023_03_01:154278002 xref: UMLS_CUI:C0017160 is_a: DOID:77 ! gastrointestinal system disease property_value: exactMatch "MESH:D005759" xsd:string [Term] id: DOID:2327 name: viral gastritis def: "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting." [url:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html] subset: DO_infectious_disease_slim subset: NCIthesaurus xref: NCI:C27184 xref: SNOMEDCT_US_2023_03_01:285344007 xref: UMLS_CUI:C0563238 is_a: DOID:4029 ! gastritis is_a: DOID:934 ! viral infectious disease [Term] id: DOID:2328 name: obsolete astrovirus gastroenteritis def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human astrovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom watery diarrhea, has_symptom nausea, has_symptom abdominal pain, has_symptom vomiting, and has_symptom fever." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2376536/pdf/tacca00082-0119.pdf] is_obsolete: true [Term] id: DOID:2329 name: obsolete Rotavirus gastroenteritis def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain." [url:http\://www.cdc.gov/ncidod/dvrd/revb/gastro/faq.htm, url:http\://www.cdc.gov/rotavirus/about_rotavirus.htm] synonym: "Enteritis due to rotavirus (disorder)" EXACT [] synonym: "rotavirus enteritis" EXACT [] is_obsolete: true [Term] id: DOID:233 name: obsolete ocular tuberculosis subset: gram-positive_bacterial_infectious_disease synonym: "Tuberculosis of eye" EXACT [] synonym: "Tuberculosis of eye (disorder)" EXACT [] synonym: "Tuberculosis of eye NOS (disorder)" EXACT [] synonym: "Tuberculosis of eye, unspecified examination" EXACT [] is_obsolete: true [Term] id: DOID:2334 name: obsolete metastatic carcinoma def: "A carcinoma that is able to grow at sites distant from the primary site of origin." [url:http\://en.wikipedia.org/wiki/Metastatic_carcinoma] synonym: "carcinoma, metastatic (morphologic abnormality)" EXACT [] synonym: "carcinoma, metastatic, NOS (morphologic abnormality)" EXACT [] synonym: "metastatic carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:2338 name: mandibular cancer alt_id: DOID:12408 def: "A jaw cancer and mandibular disease that affects your lower jawbone." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C35178] subset: NCIthesaurus synonym: "malignant neoplasm of inferior maxilla" EXACT [] synonym: "malignant neoplasm of lower Jaw bone" EXACT [] synonym: "malignant neoplasm of mandible" RELATED [] synonym: "mandible cancer" EXACT [] synonym: "mandibular neoplasm" RELATED [] synonym: "neoplasm of mandible" EXACT [] xref: ICD10CM:C41.1 xref: ICD9CM:170.1 xref: MESH:D008339 xref: NCI:C35178 xref: SNOMEDCT_US_2023_03_01:126551000 xref: SNOMEDCT_US_2023_03_01:448668007 xref: UMLS_CUI:C0024694 xref: UMLS_CUI:C0153511 is_a: DOID:1862 ! jaw cancer [Term] id: DOID:2339 name: Crouzon syndrome def: "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." [url:http\://en.wikipedia.org/wiki/Crouzon_syndrome, url:http\://ghr.nlm.nih.gov/condition/crouzon-syndrome, url:https\://www.faces-cranio.org/crouzon] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Craniofacial Dysostosis" EXACT [] synonym: "Crouzon's disease" RELATED [] xref: GARD:6206 xref: ICD10CM:Q75.1 xref: MESH:D003394 xref: MIM:123500 xref: NCI:C84653 xref: SNOMEDCT_US_2023_03_01:28861008 xref: UMLS_CUI:C0010273 is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:234 name: colon adenocarcinoma def: "A colon carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "adenocarcinoma of colon" EXACT [] synonym: "adenocarcinoma of the colon" RELATED [] synonym: "Colonic adenocarcinoma" EXACT [] xref: MESH:D003110 xref: NCI:C4349 xref: SNOMEDCT_US_2023_03_01:255082000 xref: UMLS_CUI:C0338106 is_a: DOID:1520 ! colon carcinoma is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:2340 name: craniosynostosis def: "A synostosis that results_in premature fusion located_in skull." [url:http\://en.wikipedia.org/wiki/Craniosynostosis, url:http\://www.mayoclinic.com/health/craniosynostosis/DS00959, url:http\://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001590.htm] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].\nOMIM mapping by NeuroDevNet. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Premature closure of cranial sutures" EXACT [] xref: GARD:6209 xref: ICD10CM:Q75.0 xref: MESH:D003398 xref: MIM:123100 xref: MIM:182212 xref: MIM:600593 xref: MIM:600775 xref: MIM:604757 xref: MIM:615314 xref: NCI:C84655 xref: ORDO:1531 xref: SNOMEDCT_US_2023_03_01:205414007 xref: UMLS_CUI:C0010278 is_a: DOID:11971 ! synostosis [Term] id: DOID:2344 name: polyclonal hypergammaglobulinemia subset: NCIthesaurus xref: ICD10CM:D89.0 xref: ICD9CM:273.0 xref: NCI:C35885 xref: SNOMEDCT_US_2023_03_01:190808009 xref: UMLS_CUI:C0154254 is_a: DOID:2345 ! plasma protein metabolism disease [Term] id: DOID:2345 name: plasma protein metabolism disease def: "An inherited metabolic disorder that involves plasma protein metabolism malfunction." [url:http\://en.wikipedia.org/wiki/Blood_protein] xref: ICD9CM:273.8 xref: SNOMEDCT_US_2023_03_01:190822009 xref: UMLS_CUI:C0029594 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:2346 name: monoclonal paraproteinemia synonym: "Monoclonal paraproteinaemia" EXACT [] xref: ICD9CM:273.1 xref: SNOMEDCT_US_2023_03_01:190812003 xref: UMLS_CUI:C0026471 is_a: DOID:2345 ! plasma protein metabolism disease [Term] id: DOID:2347 name: generalized atherosclerosis subset: NCIthesaurus synonym: "Generalised atherosclerosis" EXACT [] xref: ICD10CM:I70.91 xref: ICD9CM:440.9 xref: NCI:C35767 xref: SNOMEDCT_US_2023_03_01:367108003 xref: UMLS_CUI:C0017327 is_a: DOID:1936 ! atherosclerosis [Term] id: DOID:2348 name: arteriosclerotic cardiovascular disease subset: NCIthesaurus synonym: "Cardiovascular arteriosclerosis" EXACT [] xref: ICD10CM:I70 xref: ICD9CM:440 xref: MESH:D050197 xref: NCI:C34403 xref: NCI:C35768 xref: SNOMEDCT_US_2023_03_01:155414001 xref: SNOMEDCT_US_2023_03_01:39468009 xref: UMLS_CUI:C0004153 xref: UMLS_CUI:C3665365 is_a: DOID:2349 ! arteriosclerosis [Term] id: DOID:2349 name: arteriosclerosis def: "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries." [url:http\://en.wikipedia.org/wiki/Arteriosclerosis] subset: NCIthesaurus synonym: "Arteriosclerotic vascular disease" EXACT [] xref: ICD10CM:I70 xref: MESH:D001161 xref: NCI:C34398 xref: SNOMEDCT_US_2023_03_01:195251000 xref: UMLS_CUI:C0003850 is_a: DOID:0050828 ! artery disease [Term] id: DOID:235 name: colonic benign neoplasm def: "An intestinal benign neoplasm that is located_in the colon." [url:http\://en.wikipedia.org/wiki/Benign_tumor] subset: NCIthesaurus synonym: "colon neoplasm" EXACT [] synonym: "Colonic Mass" EXACT [] synonym: "Colonic tumor" EXACT [] synonym: "neoplasm of colon" EXACT [] xref: MESH:D003110 xref: NCI:C2953 xref: SNOMEDCT_US_2023_03_01:126838000 xref: UMLS_CUI:C0009375 is_a: DOID:1475 ! lymphangioma is_a: DOID:4610 ! intestinal benign neoplasm is_a: DOID:5353 ! colonic disease [Term] id: DOID:2350 name: obsolete iron overload synonym: "Iron overload (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2351 name: iron metabolism disease synonym: "disorder of iron metabolism" EXACT [] synonym: "iron disorder" EXACT [] xref: ICD10CM:E83.1 xref: ICD9CM:275.0 xref: MESH:D019189 xref: SNOMEDCT_US_2023_03_01:30913008 xref: UMLS_CUI:C0012715 is_a: DOID:0050032 ! mineral metabolism disease [Term] id: DOID:2352 name: hemochromatosis def: "A metal metabolism disorder characterized by the accumulation of iron in various organs of the body." [url:http\://en.wikipedia.org/wiki/HFE_hereditary_haemochromatosis, url:http\://ghr.nlm.nih.gov/condition/hemochromatosis, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/13/viewAbstract] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "diabetes bronze" EXACT [] synonym: "Haemochromatosis" EXACT [] synonym: "iron storage disorder" EXACT [] xref: ICD10CM:E83.11 xref: MESH:D006432 xref: MIM:231100 xref: MIM:PS235200 xref: NCI:C82892 xref: ORDO:139498 xref: SNOMEDCT_US_2023_03_01:86781004 xref: UMLS_CUI:C0018995 is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:2354 name: myelophthisic anemia def: "An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas." [url:http\://en.wikipedia.org/wiki/Myelophthisic_anemia] synonym: "ANEMIA LEUKOERYTHROBLASTIC" EXACT [] synonym: "Anemia, leukoerythroblastic" EXACT [] synonym: "Leukoerythroblastosis" EXACT [] synonym: "myelophthisis" RELATED [] xref: ICD10CM:D61.82 xref: MESH:D000750 xref: SNOMEDCT_US_2023_03_01:2694001 xref: UMLS_CUI:C0002890 is_a: DOID:12449 ! aplastic anemia [Term] id: DOID:2355 name: anemia def: "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells." [url:http\://en.wikipedia.org/wiki/Anemia, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/anemia/] comment: PRISM. subset: NCIthesaurus synonym: "anaemia" EXACT [] xref: EFO:0004272 xref: ICD10CM:D64.9 xref: ICD9CM:285.9 xref: MESH:D000740 xref: NCI:C2869 xref: SNOMEDCT_US_2023_03_01:64593003 xref: UMLS_CUI:C0002871 is_a: DOID:74 ! hematopoietic system disease property_value: exactMatch "MESH:D000740" xsd:string [Term] id: DOID:2361 name: macrocytic anemia def: "An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL)." [url:https\://my.clevelandclinic.org/health/diseases/23017-macrocytic-anemia] subset: NCIthesaurus synonym: "ANEMIA MACROCYTIC" EXACT [] synonym: "Macrocytic anaemia" EXACT [] xref: MESH:D000748 xref: NCI:C34381 xref: SNOMEDCT_US_2023_03_01:83414005 xref: UMLS_CUI:C0002886 is_a: DOID:2355 ! anemia [Term] id: DOID:2364 name: post-thrombotic syndrome alt_id: DOID:12820 alt_id: DOID:2363 alt_id: DOID:2720 def: "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." [url:http\://en.wikipedia.org/wiki/Post-thrombotic_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/21239797] synonym: "Postphlebetic syndrome with inflammation" EXACT [] synonym: "Postphlebetic syndrome with ulcer" EXACT [] synonym: "Postphlebetic syndrome with ulcer and inflammation" EXACT [] synonym: "postphlebitic syndrome" EXACT [] synonym: "venous stress disorder" EXACT [] xref: ICD10CM:I87.0 xref: ICD9CM:459.1 xref: MESH:D011186 xref: SNOMEDCT_US_2023_03_01:155460004 xref: UMLS_CUI:C0032807 is_a: DOID:10128 ! venous insufficiency [Term] id: DOID:2365 name: West Nile encephalitis def: "A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, Aedes, or Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: zoonotic_infectious_disease synonym: "West Nile fever encephalitis" EXACT [] synonym: "West Nile Fever with encephalitis" EXACT [] xref: GARD:9959 xref: ICD10CM:A92.31 xref: ICD9CM:066.41 xref: MESH:D014901 xref: SNOMEDCT_US_2023_03_01:392662004 xref: UMLS_CUI:C0751583 is_a: DOID:934 ! viral infectious disease is_a: DOID:936 ! brain disease [Term] id: DOID:2366 name: West Nile fever def: "A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting." [url:http\://www.cdc.gov/ncidod/eid/vol5no5/hubalek.htm, url:http\://www.cfsph.iastate.edu/FastFacts/pdfs/west_nile_fever_F.pdf] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease xref: ICD10CM:A92.3 xref: ICD9CM:066.4 xref: MESH:D014901 xref: SNOMEDCT_US_2023_03_01:12381007 xref: UMLS_CUI:C0043124 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:2367 name: neuroaxonal dystrophy subset: NCIthesaurus xref: MESH:D019150 xref: NCI:C161542 xref: SNOMEDCT_US_2023_03_01:230365004 xref: UMLS_CUI:C0338473 is_a: DOID:1443 ! cerebral degeneration [Term] id: DOID:2368 name: gangliosidosis def: "A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides." [url:https\://en.wikipedia.org/wiki/Gangliosidosis] subset: DO_rare_slim xref: GARD:12510 xref: ICD10CM:E75.10 xref: MESH:D005733 xref: ORDO:309144 xref: SNOMEDCT_US_2023_03_01:50967008 xref: UMLS_CUI:C0017083 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1927 ! sphingolipidosis [Term] id: DOID:2369 name: obsolete diabetes mellitus insulin dependent type not stated as uncontrolled with renal manifestations synonym: "Diabetes mellitus juvenile type, not stated as uncontrolled, with renal manifestations" EXACT [] synonym: "Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with renal manifestations" EXACT [] is_obsolete: true [Term] id: DOID:237 name: obsolete adhesions and disruptions of iris and ciliary body synonym: "adhesions and disruptions of iris and ciliary body (disorder)" EXACT [] synonym: "adhesions and disruptions of iris and ciliary body NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2370 name: obsolete diabetic nephropathy is_obsolete: true [Term] id: DOID:2373 name: hereditary elliptocytosis def: "A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present." [url:http\://en.wikipedia.org/wiki/Hereditary_elliptocytosis, url:http\://www.merckmanuals.com/professional/hematology_and_oncology/anemias_caused_by_hemolysis/hereditary_spherocytosis_and_hereditary_elliptocytosis.html, url:https\://research.nhgri.nih.gov/RBCmembrane/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Congenital elliptocytosis" EXACT [] synonym: "ovalocytosis" EXACT [] xref: GARD:6621 xref: ICD10CM:D58.1 xref: ICD9CM:282.1 xref: MESH:D004612 xref: MIM:130600 xref: MIM:611804 xref: NCI:C35882 xref: ORDO:288 xref: SNOMEDCT_US_2023_03_01:154801000 xref: UMLS_CUI:C0013902 is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:2376 name: obsolete chronic progressive multiple sclerosis comment: This term is being deleted, as it is a deprecated term, no longer used in clinical practice. [LS] synonym: "chronic progressive multiple sclerosis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2377 name: multiple sclerosis def: "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring." [url:http\://en.wikipedia.org/wiki/Multiple_sclerosis, url:https\://ghr.nlm.nih.gov/condition/multiple-sclerosis] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Generalized multiple sclerosis" EXACT [] synonym: "insular sclerosis" EXACT [] xref: GARD:10255 xref: ICD10CM:G35 xref: ICD9CM:340 xref: MESH:D009103 xref: MIM:612594 xref: MIM:612595 xref: MIM:612596 xref: NCI:C3243 xref: SNOMEDCT_US_2023_03_01:155023009 xref: UMLS_CUI:C0026769 is_a: DOID:0060004 ! autoimmune disease of central nervous system is_a: DOID:3213 ! demyelinating disease property_value: exactMatch "MESH:D009103" xsd:string [Term] id: DOID:2378 name: relapsing-remitting multiple sclerosis def: "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles." [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html] subset: NCIthesaurus synonym: "Relapsing-remitting MS" EXACT [] synonym: "RRMS" EXACT OMO:0003012 [] xref: EFO:0003929 xref: MESH:D020529 xref: NCI:C165675 xref: SNOMEDCT_US_2023_03_01:426373005 xref: UMLS_CUI:C0751967 is_a: DOID:2377 ! multiple sclerosis [Term] id: DOID:238 name: pupil disease synonym: "Pupillary disorder" EXACT [] xref: MESH:D011681 xref: SNOMEDCT_US_2023_03_01:68633000 xref: UMLS_CUI:C0034124 is_a: DOID:5614 ! eye disease [Term] id: DOID:2381 name: obsolete Vibrio cholerae O1 biovar El Tor cholera alt_id: DOID:0050005 def: "A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor." [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent] subset: gram-negative_bacterial_infectious_disease synonym: "cholera due to Vibrio cholerae 01 biovar cholerae" EXACT [] synonym: "Cholera due to Vibrio cholerae 01, biovar el tor" RELATED [] synonym: "Cholera due to Vibrio cholerae el tor" EXACT [] synonym: "Cholera due to Vibrio cholerae El Tor (disorder)" EXACT [] synonym: "Vibrio cholerae 01 biovar cholerae cholera" EXACT [] synonym: "Vibrio cholerae biovar El Tor cholera" EXACT [] synonym: "Vibrio cholerae el tor cholera" EXACT [] synonym: "Vibrio cholerae O1 biovar eltor cholera" EXACT [] is_obsolete: true [Term] id: DOID:2382 name: kernicterus def: "A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction." [url:https\://en.wikipedia.org/wiki/Kernicterus, url:https\://www.nlm.nih.gov/medlineplus/ency/article/007309.htm] subset: DO_rare_slim subset: NCIthesaurus synonym: "bilirubin encephalopathy" EXACT [] xref: GARD:6830 xref: ICD10CM:P57 xref: MESH:D007647 xref: NCI:C84799 xref: SNOMEDCT_US_2023_03_01:157135006 xref: UMLS_CUI:C0022610 is_a: DOID:936 ! brain disease [Term] id: DOID:2383 name: neonatal jaundice def: "A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant." [url:http\://en.wikipedia.org/wiki/Neonatal_jaundice, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001559.htm] subset: NCIthesaurus synonym: "neonatal hyperbilirubinemia" EXACT [] synonym: "neonatal icterus" EXACT [] xref: ICD10CM:P59.9 xref: MESH:D007567 xref: NCI:C99246 xref: SNOMEDCT_US_2023_03_01:299968002 xref: UMLS_CUI:C0022353 is_a: DOID:10123 ! pigmentation disease [Term] id: DOID:2384 name: Wernicke encephalopathy def: "A brain disease that is characterized by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1)." [url:https\://en.wikipedia.org/wiki/Wernicke%27s_encephalopathy] synonym: "Wernicke's disease" EXACT [] synonym: "Wernicke's encephalopathy" EXACT [] xref: ICD10CM:E51.2 xref: MESH:D014899 xref: SNOMEDCT_US_2023_03_01:190627001 xref: UMLS_CUI:C0043121 is_a: DOID:936 ! brain disease [Term] id: DOID:2385 name: obsolete thiamine deficiency synonym: "Thiamin deficiency (disorder)" EXACT [] synonym: "Thiamine deficiency" EXACT [] synonym: "thiamine deficiency" EXACT [] synonym: "Thiamine deficiency, unspecified" EXACT [] synonym: "Thiamine deficiency, unspecified (disorder)" EXACT [] synonym: "vitamin B1 deficiency" EXACT [] is_obsolete: true [Term] id: DOID:2388 name: renal artery disease subset: NCIthesaurus synonym: "renal vascular disease" EXACT [] synonym: "vascular disorder of kidney" EXACT [] xref: ICD9CM:593.81 xref: NCI:C35338 xref: SNOMEDCT_US_2023_03_01:16934004 xref: UMLS_CUI:C0268790 is_a: DOID:0050828 ! artery disease [Term] id: DOID:2389 name: obsolete fibromuscular dysplasia synonym: "Fibromuscular dysplasia (morphologic abnormality)" EXACT [] synonym: "Fibromuscular hyperplasia of arteries NOS (disorder)" EXACT [] synonym: "Fibromuscular hyperplasia of artery" EXACT [] synonym: "Fibromuscular hyperplasia of artery (disorder)" EXACT [] synonym: "Fibromuscular hyperplasia of artery [Ambiguous]" EXACT [] is_obsolete: true [Term] id: DOID:239 name: obsolete iridodialysis synonym: "coredialysis" EXACT [] is_obsolete: true [Term] id: DOID:2392 name: glandular cystitis subset: NCIthesaurus synonym: "cystitis glandularis" RELATED [] xref: NCI:C39860 xref: SNOMEDCT_US_2023_03_01:72815004 xref: UMLS_CUI:C0268837 is_a: DOID:1680 ! chronic cystitis [Term] id: DOID:2394 name: ovarian cancer alt_id: DOID:0060070 alt_id: DOID:2144 alt_id: DOID:9595 def: "A female reproductive organ cancer that is located_in the ovary." [url:http\://www.cancer.gov/dictionary?CdrID=445074] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_CFDE_slim subset: DO_FlyBase_slim subset: DO_RAD_slim subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "malignant Ovarian tumor" EXACT [] synonym: "malignant tumour of ovary" EXACT [] synonym: "ovarian neoplasm" EXACT [] synonym: "ovary neoplasm" EXACT [] synonym: "primary ovarian cancer" EXACT [] synonym: "tumor of the Ovary" EXACT [] xref: GARD:7295 xref: ICD10CM:C56 xref: ICD9CM:183.0 xref: MESH:D010051 xref: MIM:167000 xref: MIM:607893 xref: NCI:C4984 xref: NCI:C7431 xref: ORDO:213500 xref: ORDO:213517 xref: SNOMEDCT_US_2023_03_01:123843001 xref: SNOMEDCT_US_2023_03_01:372117006 xref: SNOMEDCT_US_2023_03_01:93934004 xref: UMLS_CUI:C0919267 xref: UMLS_CUI:C1140680 xref: UMLS_CUI:C1299247 is_a: DOID:1100 ! ovarian disease is_a: DOID:120 ! female reproductive organ cancer [Term] id: DOID:2399 name: obsolete ovarian clear cell neoplasm synonym: "Clear cell tumor of ovary (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:240 name: iris disease subset: DO_RAD_slim subset: NCIthesaurus xref: MESH:D007499 xref: NCI:C34737 xref: SNOMEDCT_US_2023_03_01:85478004 xref: UMLS_CUI:C0022078 is_a: DOID:3480 ! uveal disease [Term] id: DOID:2401 name: clitoris cancer alt_id: DOID:2400 def: "A vulva cancer that is located_in the clitoris." [url:https\://scialert.net/fulltext/?doi=ijcr.2008.110.126] subset: NCIthesaurus synonym: "carcinoma of Clitoris" EXACT [] synonym: "Clitoral Ca" EXACT [] synonym: "clitoral cancer" EXACT [] synonym: "malignant neoplasm of clitoris" EXACT [] synonym: "malignant tumor of Clitoris" EXACT [] xref: ICD10CM:C51.2 xref: ICD9CM:184.3 xref: NCI:C3557 xref: NCI:C9362 xref: SNOMEDCT_US_2023_03_01:93758009 xref: UMLS_CUI:C0153589 xref: UMLS_CUI:C1333070 is_a: DOID:1245 ! vulva cancer [Term] id: DOID:2402 name: obsolete lymphangiectasis synonym: "Lymphangiectases (disorder)" EXACT [] synonym: "Lymphangiectasis (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:2409 name: rhinosporidiosis def: "A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed." [url:https\://www.sciencedirect.com/science/article/abs/pii/S2213219817305093?via%3Dihub] subset: DO_infectious_disease_slim synonym: "Infection by Rhinosporidium seeberi" EXACT [] xref: ICD10CM:B48.1 xref: ICD9CM:117.0 xref: MESH:D012227 xref: SNOMEDCT_US_2023_03_01:18140003 xref: UMLS_CUI:C0035469 is_a: DOID:0050291 ! parasitic Ichthyosporea infectious disease [Term] id: DOID:2410 name: skin granular cell tumor subset: NCIthesaurus synonym: "granular cell neoplasm of the skin" EXACT [] synonym: "granular cell tumor of skin" EXACT [] synonym: "granular cell tumour of skin" EXACT [] synonym: "skin granular cell tumour" EXACT [] xref: NCI:C5617 xref: SNOMEDCT_US_2023_03_01:254763007 xref: UMLS_CUI:C0346060 is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:2411 name: granular cell tumor subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "neoplasm of granular cell" EXACT [] xref: GARD:9618 xref: ICDO:9580/0 xref: MESH:D016586 xref: NCI:C3474 xref: SNOMEDCT_US_2023_03_01:12169001 xref: UMLS_CUI:C0085167 is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:2412 name: obsolete skin tumor of neural origin synonym: "neural tumor of the skin" EXACT [] synonym: "skin tumor of neural origin (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2413 name: obsolete epithelioid and spindle cell nevus synonym: "epithelioid and spindle cell nevus (disorder)" EXACT [] synonym: "Pigmented spindle cell naevus of Reed" EXACT [] synonym: "Spitz (spindle cell) nevus" EXACT [] is_obsolete: true [Term] id: DOID:2415 name: obsolete benign skin melanocytic nevus alt_id: DOID:191 alt_id: DOID:2418 alt_id: DOID:5901 synonym: "benign melanocytic naevus" EXACT [] synonym: "benign melanocytic naevus of skin" EXACT [] synonym: "benign melanocytic nevus" EXACT [] synonym: "benign melanoma" EXACT [] synonym: "benign nevus of skin" EXACT [] synonym: "cutaneous melanocytic neoplasm" EXACT [] synonym: "Magnocellular nevus" EXACT [] synonym: "Magnocellular nevus (morphologic abnormality)" EXACT [] synonym: "melanocytic neoplasm" EXACT [] synonym: "melanocytic neoplasm (disorder)" EXACT [] synonym: "melanocytic neoplasm of skin" EXACT [] synonym: "melanocytic tumor of skin (disorder)" EXACT [] synonym: "melanocytoma" EXACT [] synonym: "Naevus - benign" EXACT [] is_obsolete: true [Term] id: DOID:2417 name: obsolete melanocytic nevus synonym: "Sutton's naevus" EXACT [] is_obsolete: true [Term] id: DOID:2421 name: obsolete skin fibrous tissue neoplasm synonym: "Cutaneous fibrous tissue neoplasm" EXACT [] synonym: "fibrous tissue tumor of skin (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2423 name: obsolete halo nevus comment: OMIM mapping confirmed by DO. [SN]. synonym: "HALO NEVI" EXACT [] synonym: "Halo nevus (disorder)" EXACT [] synonym: "Halo nevus (morphologic abnormality)" EXACT [] synonym: "HN" EXACT [] is_obsolete: true [Term] id: DOID:2424 name: obsolete intradermal nevus synonym: "Dermal cellular nevus (disorder)" EXACT [] synonym: "Dermal nevus" EXACT [] synonym: "Intradermal nevus (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:2425 name: cutaneous ganglioneuroma subset: NCIthesaurus synonym: "Ganglioneuroma of skin" EXACT [] xref: NCI:C4481 xref: SNOMEDCT_US_2023_03_01:254766004 xref: UMLS_CUI:C0346063 is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:2426 name: gangliocytoma def: "A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells." [url:https\://link.springer.com/chapter/10.1007/978-1-4419-1062-2_18, url:https\://radiopaedia.org/articles/gangliocytoma, url:https\://rarediseases.info.nih.gov/diseases/10638/gangliocytoma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "gangliocytoma of central nervous system" EXACT [] xref: GARD:10638 xref: ICDO:9492/0 xref: MESH:D005729 xref: NCI:C6934 xref: SNOMEDCT_US_2021_09_01:128919000 is_a: DOID:0060090 ! central nervous system benign neoplasm [Term] id: DOID:2430 name: skin glomus tumor subset: NCIthesaurus synonym: "Glomus skin neoplasm" EXACT [] synonym: "Glomus tumor of skin" EXACT [] synonym: "Glomus tumour of skin" EXACT [] synonym: "skin glomus tumour" EXACT [] xref: NCI:C4491 xref: SNOMEDCT_US_2023_03_01:254795008 xref: UMLS_CUI:C0346083 is_a: DOID:2431 ! glomus tumor is_a: DOID:4159 ! skin cancer [Term] id: DOID:2431 name: glomus tumor def: "A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body." [url:https\://en.wikipedia.org/wiki/Glomus_tumor] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Glomus neoplasm" EXACT [] synonym: "Glomus tumour" EXACT [] xref: ICDO:8711/0 xref: MESH:D005918 xref: NCI:C3060 xref: SNOMEDCT_US_2023_03_01:189193002 xref: UMLS_CUI:C0017653 is_a: DOID:3850 ! hemangiopericytic tumor [Term] id: DOID:2433 name: epidermal appendage tumor subset: NCIthesaurus synonym: "neoplasm of skin with adnexal differentiation" EXACT [] synonym: "neoplasm of the skin Appendage" EXACT [] synonym: "skin appendage tumour" EXACT [] xref: NCI:C4463 xref: SNOMEDCT_US_2023_03_01:126489007 xref: UMLS_CUI:C0345988 is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:2434 name: obsolete intraepidermal nevus synonym: "Junctional melanocytic nevus of skin (disorder)" EXACT [] synonym: "Junctional nevus (morphologic abnormality)" EXACT [] synonym: "Junctional nevus of the skin" EXACT [] is_obsolete: true [Term] id: DOID:2435 name: skin glomangioma subset: NCIthesaurus synonym: "Cutaneous Glomangioma" EXACT [] synonym: "Glomangioma of skin" EXACT [] xref: NCI:C6750 xref: SNOMEDCT_US_2023_03_01:403970001 xref: UMLS_CUI:C1275226 is_a: DOID:2436 ! glomangioma is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:2436 name: glomangioma def: "A benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions." [url:https\://pubmed.ncbi.nlm.nih.gov/21163162/] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Glomuvenous Malformation" EXACT [] xref: ICDO:8712/0 xref: MESH:D005918 xref: MIM:138000 xref: NCI:C4222 xref: ORDO:83454 xref: SNOMEDCT_US_2023_03_01:7429002 xref: UMLS_CUI:C0334421 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5238 ! benign perivascular tumor [Term] id: DOID:2437 name: obsolete skin compound nevus synonym: "compound nevus" EXACT [] synonym: "Compound nevus (morphologic abnormality)" EXACT [] synonym: "Compound nevus of skin (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2438 name: dermis tumor subset: NCIthesaurus synonym: "dermis tumour" EXACT [] synonym: "neoplasm of Dermis" EXACT [] synonym: "tumor of dermis" EXACT [] synonym: "tumour of dermis" EXACT [] xref: NCI:C4475 xref: SNOMEDCT_US_2023_03_01:254735005 xref: UMLS_CUI:C0346041 is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:2441 name: frontal sinus squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the frontal sinus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22169549] subset: NCIthesaurus synonym: "Epidermoid carcinoma of the Frontal sinus" EXACT [] xref: NCI:C6067 xref: SNOMEDCT_US_2023_03_01:1260048003 xref: UMLS_CUI:C1333646 is_a: DOID:1360 ! frontal sinus cancer is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:2444 name: hyperpituitarism xref: MESH:D006964 xref: SNOMEDCT_US_2023_03_01:10649000 xref: UMLS_CUI:C0020506 is_a: DOID:53 ! pituitary gland disease property_value: exactMatch "MESH:D006964" xsd:string [Term] id: DOID:2446 name: obsolete gigantism synonym: "Anterior pituitary hyperfunction" EXACT [] synonym: "Pituitary gigantism" EXACT [] is_obsolete: true [Term] id: DOID:2449 name: acromegaly def: "A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb." [url:http\://en.wikipedia.org/wiki/Acromegaly, url:http\://www.mayoclinic.com/health/acromegaly/DS00478, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000321.htm] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5725 xref: MESH:D000172 xref: NCI:C84533 xref: SNOMEDCT_US_2023_03_01:154698000 xref: UMLS_CUI:C0001206 is_a: DOID:2444 ! hyperpituitarism [Term] id: DOID:2450 name: central retinal vein occlusion subset: NCIthesaurus xref: ICD10CM:H34.81 xref: ICD9CM:362.35 xref: MESH:D012170 xref: NCI:C118859 xref: SNOMEDCT_US_2023_03_01:193378003 xref: UMLS_CUI:C0154841 is_a: DOID:1727 ! retinal vein occlusion [Term] id: DOID:2451 name: protein S deficiency def: "A thrombophilia that is characterized by increased risk of developing abnormal blood clots." [url:https\://medlineplus.gov/genetics/condition/protein-s-deficiency/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Protein S deficiency disease" EXACT [] xref: GARD:4524 xref: ICD10CM:D68.59 xref: MESH:D018455 xref: NCI:C99026 xref: SNOMEDCT_US_2023_03_01:1563006 xref: UMLS_CUI:C0242666 is_a: DOID:2452 ! thrombophilia [Term] id: DOID:2452 name: thrombophilia def: "A blood coagulation disease that is characterized by an increased tendency to form clots." [url:https\://en.wikipedia.org/wiki/Thrombophilia, url:https\://www.nhs.uk/conditions/thrombophilia/] comment: OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus synonym: "hypercoagulability state" EXACT [] xref: ICD10CM:D68.59 xref: MESH:D019851 xref: MIM:PS188050 xref: NCI:C84479 xref: SNOMEDCT_US_2023_03_01:191302007 xref: UMLS_CUI:C0398623 is_a: DOID:1247 ! blood coagulation disease property_value: exactMatch "MESH:D019851" xsd:string [Term] id: DOID:2455 name: angular blepharoconjunctivitis def: "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area." [url:https\://www.ncbi.nlm.nih.gov/books/NBK558902/] xref: ICD10CM:H10.52 xref: ICD9CM:372.21 xref: SNOMEDCT_US_2023_03_01:193871000 xref: UMLS_CUI:C0155149 is_a: DOID:2456 ! blepharoconjunctivitis [Term] id: DOID:2456 name: blepharoconjunctivitis def: "A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis." [url:http\://en.wikipedia.org/wiki/Conjunctivitis] subset: NCIthesaurus xref: ICD10CM:H10.5 xref: ICD9CM:372.2 xref: NCI:C34430 xref: SNOMEDCT_US_2023_03_01:155164001 xref: UMLS_CUI:C0005743 is_a: DOID:9423 ! blepharitis [Term] id: DOID:2457 name: giant papillary conjunctivitis subset: DO_rare_slim subset: NCIthesaurus xref: GARD:8445 xref: MESH:D003233 xref: NCI:C34507 xref: SNOMEDCT_US_2023_03_01:231857004 xref: UMLS_CUI:C0009769 is_a: DOID:2458 ! papillary conjunctivitis [Term] id: DOID:2458 name: papillary conjunctivitis subset: NCIthesaurus xref: NCI:C35616 xref: SNOMEDCT_US_2023_03_01:416878008 xref: UMLS_CUI:C0854165 is_a: DOID:6195 ! conjunctivitis [Term] id: DOID:2460 name: anterior dislocation of lens xref: ICD10CM:H27.12 xref: ICD9CM:379.33 xref: SNOMEDCT_US_2023_03_01:194160006 xref: UMLS_CUI:C0155372 is_a: DOID:1242 ! globe disease [Term] id: DOID:2462 name: retinal vascular disease subset: NCIthesaurus synonym: "retina circulation disorder" EXACT [] xref: NCI:C35170 xref: SNOMEDCT_US_2023_03_01:57534004 xref: UMLS_CUI:C0154833 is_a: DOID:178 ! vascular disease is_a: DOID:5679 ! retinal disease [Term] id: DOID:2467 name: obsolete reactive confusion synonym: "Psychogenic confusion" EXACT [] synonym: "Psychogenic twilight state" EXACT [] is_obsolete: true [Term] id: DOID:2468 name: psychotic disorder def: "A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality." [url:http\://www.nlm.nih.gov/medlineplus/psychoticdisorders.html] subset: DO_RAD_slim synonym: "mental or behavioural disorder" EXACT [] xref: EFO:0000677 xref: ICD9CM:298.8 xref: UMLS_CUI:C0029516 is_a: DOID:1561 ! cognitive disorder [Term] id: DOID:2469 name: obsolete swine erysipelas subset: gram-positive_bacterial_infectious_disease synonym: "Erysipelas in swine" EXACT [] is_obsolete: true [Term] id: DOID:2470 name: obsolete Erysipelothrix infectious disease subset: gram-positive_bacterial_infectious_disease synonym: "Erysipeloid (disorder)" EXACT [] synonym: "Erysipelothrix disease (disorder)" EXACT [] synonym: "Seal finger (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2471 name: obsolete Erysipelothrix rhusiopathiae infectious disease subset: gram-positive_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Infection due to E. rhusiopathiae" EXACT [] synonym: "Infection due to Erysipelothrix rhusiopathiae" EXACT [] is_obsolete: true [Term] id: DOID:2473 name: opportunistic mycosis alt_id: DOID:0050137 def: "A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices." [url:http\://www.mycology.adelaide.edu.au/Mycoses/, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006] subset: DO_infectious_disease_slim synonym: "Opportunistic mycoses" EXACT [] synonym: "opportunistic systemic mycoses" EXACT [] xref: ICD9CM:118 xref: SNOMEDCT_US_2023_03_01:78999002 xref: UMLS_CUI:C0029119 is_a: DOID:0050136 ! systemic mycosis [Term] id: DOID:2474 name: vernal conjunctivitis subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7854 xref: ICD10CM:H10.44 xref: ICD9CM:372.13 xref: MESH:D003233 xref: NCI:C34508 xref: SNOMEDCT_US_2023_03_01:193867003 xref: UMLS_CUI:C0009773 is_a: DOID:2475 ! chronic conjunctivitis [Term] id: DOID:2475 name: chronic conjunctivitis subset: NCIthesaurus xref: ICD10CM:H10.4 xref: ICD9CM:372.1 xref: NCI:C35197 xref: SNOMEDCT_US_2023_03_01:155163007 xref: UMLS_CUI:C0155145 is_a: DOID:6195 ! conjunctivitis [Term] id: DOID:2476 name: hereditary spastic paraplegia def: "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs." [url:http\://en.wikipedia.org/wiki/Familial_spastic_paraplegia] comment: Xref MGI. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "familial spastic paraplegia" EXACT [] synonym: "French settlement disease" EXACT [] synonym: "hereditary spastic paraparesis" EXACT [] synonym: "Strumpell-Lorrain disease" EXACT [] xref: GARD:6637 xref: ICD10CM:G11.4 xref: ICD9CM:334.1 xref: MESH:D015419 xref: MIM:PS303350 xref: NCI:C140267 xref: SNOMEDCT_US_2023_03_01:267692008 xref: UMLS_CUI:C0037773 is_a: DOID:607 ! paraplegia [Term] id: DOID:2477 name: motor peripheral neuropathy def: "A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves." [url:https\://www.ninds.nih.gov/health-information/disorders/peripheral-neuropathy] subset: NCIthesaurus synonym: "Hereditary motor and sensory neuropathy" EXACT [] synonym: "HSMN" EXACT OMO:0003012 [] synonym: "HSMN - Hereditary sensory and motor neuropathy" EXACT [] synonym: "neuropathic muscular atrophy" EXACT [] synonym: "Peripheral Motor Neuropathy" EXACT [] xref: ICD10CM:G60.0 xref: MESH:D015417 xref: NCI:C75467 xref: SNOMEDCT_US_2023_03_01:128202008 xref: UMLS_CUI:C0027888 is_a: DOID:870 ! neuropathy [Term] id: DOID:2479 name: central nervous system origin vertigo def: "A brain disease that is characterized by vertigo caused by hemorrhagic insult, ischemic insult or mass lesion of the cerebellum, the vestibular nuclei, and the brainstem, has_symptom dizziness, has_symptom nausea, has_symptom vomiting and has_symptom difficulty walking." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26643594] synonym: "central vestibular vertigo" EXACT [] synonym: "Vertigo of central origin" EXACT [] xref: ICD10CM:H81.4 xref: ICD9CM:386.2 xref: MESH:D014717 xref: SNOMEDCT_US_2023_03_01:20425006 xref: UMLS_CUI:C0155503 is_a: DOID:936 ! brain disease [Term] id: DOID:248 name: trachea leiomyoma alt_id: DOID:246 def: "A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26026331] subset: NCIthesaurus synonym: "leiomyoma of the Trachea" EXACT [] xref: MESH:D014134 xref: NCI:C3419 xref: NCI:C6049 xref: SNOMEDCT_US_2023_03_01:126703006 xref: UMLS_CUI:C0040582 xref: UMLS_CUI:C1336772 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:127 ! leiomyoma is_a: DOID:3225 ! tracheal disease [Term] id: DOID:2481 name: obsolete infantile epileptic encephalopathy is_obsolete: true [Term] id: DOID:2485 name: phosphorus metabolism disease subset: NCIthesaurus synonym: "disorder of phosphorus metabolism" EXACT [] synonym: "Phosphorus disorder" EXACT [] synonym: "phosphorus metabolism disorder" EXACT [] xref: ICD9CM:275.3 xref: MESH:D010760 xref: NCI:C97095 xref: SNOMEDCT_US_2023_03_01:190858002 xref: UMLS_CUI:C0031707 is_a: DOID:0050032 ! mineral metabolism disease [Term] id: DOID:2487 name: obsolete hypercholesterolemia synonym: "hypercholesteremia" EXACT [] synonym: "hypercholesterolaemia" RELATED [] is_obsolete: true [Term] id: DOID:2490 name: congenital nervous system abnormality synonym: "congenital neurologic anomaly" EXACT [] xref: ICD9CM:742 xref: SNOMEDCT_US_2023_03_01:204018008 xref: UMLS_CUI:C0158538 is_a: DOID:0080015 ! physical disorder is_a: DOID:863 ! nervous system disease [Term] id: DOID:2491 name: sensory peripheral neuropathy alt_id: DOID:10596 def: "A neuropathy that involves damage to nerves of the peripheral nervous system." [url:https\://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061] {comment="ls:IEDB"} subset: NCIthesaurus synonym: "peripheral Sensory Neuropathy" EXACT [] synonym: "sensory neuropathy" EXACT [] xref: ICD9CM:356.2 xref: MESH:D009477 xref: NCI:C3501 xref: SNOMEDCT_US_2023_03_01:193163001 xref: SNOMEDCT_US_2023_03_01:95662005 xref: UMLS_CUI:C0151313 xref: UMLS_CUI:C0699739 is_a: DOID:870 ! neuropathy [Term] id: DOID:2492 name: obsolete hereditary peripheral neuropathy synonym: "Hereditary peripheral neuropathy (disorder)" EXACT [] synonym: "Hereditary peripheral neuropathy NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2493 name: gastric antral vascular ectasia subset: NCIthesaurus synonym: "Watermelon stomach" EXACT [] xref: MESH:D020252 xref: NCI:C84724 xref: SNOMEDCT_US_2023_03_01:412795008 xref: UMLS_CUI:C0267211 is_a: DOID:1271 ! capillary disease [Term] id: DOID:2494 name: angiodysplasia alt_id: DOID:12071 def: "A vascular disease that is characterized as a small vascular malformation of the gut." [url:http\://en.wikipedia.org/wiki/Angiodysplasia] synonym: "angiodysplasia of stomach and duodenum with hemorrhage" EXACT [] xref: MESH:D016888 xref: SNOMEDCT_US_2023_03_01:71072006 xref: UMLS_CUI:C0085411 is_a: DOID:178 ! vascular disease property_value: exactMatch "MESH:D016888" xsd:string [Term] id: DOID:2495 name: senile angioma subset: NCIthesaurus synonym: "Senile hemangioma" EXACT [] synonym: "Senile naevus of skin" EXACT [] xref: NCI:C4390 xref: SNOMEDCT_US_2023_03_01:5050001 xref: UMLS_CUI:C0343082 is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:2497 name: enamel erosion xref: ICD9CM:521.31 xref: SNOMEDCT_US_2023_03_01:234977009 xref: UMLS_CUI:C0399400 is_a: DOID:2498 ! tooth erosion [Term] id: DOID:2498 name: tooth erosion alt_id: DOID:11509 alt_id: DOID:12687 synonym: "generalized erosion" EXACT [] synonym: "localized erosion" EXACT [] xref: ICD10CM:K03.2 xref: ICD9CM:521.3 xref: MESH:D014077 xref: SNOMEDCT_US_2023_03_01:82212003 xref: UMLS_CUI:C0040436 is_a: DOID:214 ! teeth hard tissue disease [Term] id: DOID:250 name: obsolete chronic brain damage synonym: "chronic brain damage" EXACT [] synonym: "chronic brain syndrome (disorder)" EXACT [] synonym: "chronic Encephalopathy" EXACT [] is_obsolete: true [Term] id: DOID:2503 name: obsolete AIDS-related vulvovaginal candidiasis def: "A vulvovaginal candidiasis that involves fungal infection of the vaginal mucous membranes by Candida albicans in AIDS patients." [url:http\://en.wikipedia.org/wiki/Vulvovaginal_candidiasis] is_obsolete: true [Term] id: DOID:2508 name: Takayasu's arteritis alt_id: DOID:13377 def: "A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001250.htm] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Aortic arch arteritis" EXACT [] synonym: "aortic arch syndrome" EXACT [] synonym: "Idiopathic aortitis" EXACT [] synonym: "Takayasu arteritis" EXACT [] synonym: "Takayasu's disease" EXACT [] xref: GARD:7730 xref: ICD10CM:M31.4 xref: ICD9CM:446.7 xref: MESH:D001015 xref: MESH:D013625 xref: MIM:207600 xref: NCI:C34391 xref: NCI:C35062 xref: SNOMEDCT_US_2023_03_01:359789008 xref: SNOMEDCT_US_2023_03_01:42153001 xref: UMLS_CUI:C0003490 xref: UMLS_CUI:C0039263 is_a: DOID:0050828 ! artery disease is_a: DOID:865 ! vasculitis [Term] id: DOID:251 name: alcohol-induced mental disorder xref: ICD9CM:291.89 xref: UMLS_CUI:C1456283 is_a: DOID:8646 ! substance-induced psychosis [Term] id: DOID:2510 name: Kluver-Bucy syndrome def: "An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior." [url:http\://en.wikipedia.org/wiki/Kl%C3%BCver%E2%80%93Bucy_syndrome, url:http\://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm] subset: NCIthesaurus synonym: "Klver-Bucy syndrome" EXACT [] xref: MESH:D020232 xref: NCI:C84802 xref: SNOMEDCT_US_2023_03_01:10651001 xref: UMLS_CUI:C0270707 is_a: DOID:10937 ! impulse control disorder [Term] id: DOID:2512 name: nevoid basal cell carcinoma syndrome def: "A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities." [url:https\://medlineplus.gov/genetics/condition/gorlin-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/11932998/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "basal cell nevus syndrome" EXACT [] synonym: "Gorlin syndrome" EXACT [] synonym: "NBCCS" EXACT OMO:0003012 [] xref: GARD:7166 xref: MEDDRA:10062804 xref: MESH:D001478 xref: MIM:PS109400 xref: NCI:C2892 xref: ORDO:377 xref: SNOMEDCT_US_2023_03_01:69408002 xref: UMLS_CUI:C0004779 is_a: DOID:225 ! syndrome [Term] id: DOID:2513 name: basal cell carcinoma alt_id: DOID:4275 alt_id: DOID:4276 def: "A skin carcinoma affecting basal cells." [url:http\://en.wikipedia.org/wiki/Basal-cell_carcinoma] comment: Xref MGI. subset: DO_cancer_slim subset: DO_RAD_slim subset: NCIthesaurus synonym: "Basal cell cancer" EXACT [] synonym: "Basal cell carcinoma of skin" EXACT [] synonym: "Basal cell neoplasm" EXACT [] synonym: "Basal cell tumor" EXACT [] synonym: "Epithelioma basal cell" EXACT [] synonym: "malignant Basal cell neoplasm" EXACT [] synonym: "malignant basal cell tumor" EXACT [] synonym: "Rodent ulcer" EXACT [] xref: EFO:0004193 xref: ICDO:8090/3 xref: KEGG:05217 xref: MESH:D018295 xref: NCI:C156767 xref: NCI:C3784 xref: NCI:C7586 xref: SNOMEDCT_US_2023_03_01:127570002 xref: SNOMEDCT_US_2023_03_01:154507009 xref: SNOMEDCT_US_2023_03_01:252995000 xref: UMLS_CUI:C0007117 xref: UMLS_CUI:C0206710 xref: UMLS_CUI:C1368295 is_a: DOID:3451 ! skin carcinoma [Term] id: DOID:2514 name: obsolete meningococcal optic neuritis subset: gram-negative_bacterial_infectious_disease synonym: "Meningococcal optic neuritis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2515 name: obsolete meningococcal infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:2516 name: intracranial cavernous angioma subset: NCIthesaurus synonym: "intracranial Cavernoma" EXACT [] xref: NCI:C5432 xref: SNOMEDCT_US_2023_03_01:445513004 xref: UMLS_CUI:C1334237 is_a: DOID:2517 ! intracranial structure hemangioma [Term] id: DOID:2517 name: intracranial structure hemangioma subset: NCIthesaurus synonym: "Angioma of intracranial Structure" EXACT [] synonym: "hemangioma of intracranial structure" EXACT [] synonym: "hemangioma of intracranial structures" EXACT [] xref: ICD10CM:D18.02 xref: ICD9CM:228.02 xref: NCI:C3633 xref: SNOMEDCT_US_2023_03_01:93468003 xref: UMLS_CUI:C0154050 is_a: DOID:255 ! hemangioma [Term] id: DOID:2518 name: orchitis subset: NCIthesaurus synonym: "Inflammation of testis" EXACT [] synonym: "Orchititis" EXACT [] xref: ICD10CM:N45.2 xref: MESH:D009920 xref: NCI:C97145 xref: SNOMEDCT_US_2023_03_01:367112009 xref: UMLS_CUI:C0029191 is_a: DOID:2519 ! testicular disease [Term] id: DOID:2519 name: testicular disease subset: NCIthesaurus synonym: "disorder of testis" EXACT [] synonym: "testis disorder" EXACT [] xref: MESH:D013733 xref: NCI:C26890 xref: SNOMEDCT_US_2023_03_01:236763001 xref: UMLS_CUI:C0039584 is_a: DOID:2277 ! gonadal disease is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:252 name: alcoholic psychosis def: "An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal." [url:https\://www.ncbi.nlm.nih.gov/books/NBK459134/, url:https\://www.ncbi.nlm.nih.gov/pubmed/22611692] synonym: "Alcoholic psychoses" EXACT [] xref: ICD9CM:291.9 xref: MESH:D011604 xref: SNOMEDCT_US_2023_03_01:154852003 xref: UMLS_CUI:C0033936 is_a: DOID:251 ! alcohol-induced mental disorder [Term] id: DOID:2524 name: obsolete abnormal glucose tolerance in mother complicating pregnancy childbirth and/or puerperium alt_id: DOID:2523 alt_id: DOID:2813 alt_id: DOID:2865 synonym: "abnormal glucose tolerance of mother with delivery" EXACT [] synonym: "antepartum abnormal glucose tolerance of mother" EXACT [] synonym: "postpartum abnormal glucose tolerance of mother" EXACT [] is_obsolete: true [Term] id: DOID:2526 name: prostate adenocarcinoma def: "A prostate carcinoma that derives_from epithelial cells of glandular origin." [url:http\://cancergenome.nih.gov/cancersselected/prostatecancer, url:http\://en.wikipedia.org/wiki/Adenocarcinoma, url:http\://en.wikipedia.org/wiki/Prostate_cancer] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C2919 xref: SNOMEDCT_US_2023_03_01:399490008 xref: UMLS_CUI:C0007112 is_a: DOID:10286 ! prostate carcinoma is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:2527 name: nephrosis def: "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation." [url:https\://en.wikipedia.org/wiki/Nephrosis] xref: MESH:D009401 xref: SNOMEDCT_US_2023_03_01:90708001 xref: UMLS_CUI:C0027720 is_a: DOID:576 ! proteinuria [Term] id: DOID:2528 name: obsolete myeloid metaplasia def: "A myeloma and spenic disease that is located_in the bone marrow that results_in the marrow being replaced by fibrous (scar) tissue and has_symptom abdominal fullness related to an enlarged spleen, has_symptom bone pain, has_symptom bruising, has_symptom easy bleeding, has_symptom fatigue, has_symptom increased susceptibility to infection, has_symptom pallor, has_symtom shortness of breath while doing physical work." [url:https\://health.google.com/health/ref/Primary+myelofibrosis] synonym: "Myeloid metaplasia (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:2529 name: splenic disease alt_id: DOID:0000815 subset: NCIthesaurus synonym: "Dyssplenism" EXACT [] synonym: "Spleen disease" EXACT [] xref: ICD10CM:D73 xref: ICD9CM:289.50 xref: MESH:D013158 xref: NCI:C35823 xref: SNOMEDCT_US_2023_03_01:51244008 xref: UMLS_CUI:C0037997 is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:2530 name: splenic abscess subset: NCIthesaurus xref: ICD10CM:D73.3 xref: NCI:C35347 xref: SNOMEDCT_US_2023_03_01:82053000 xref: UMLS_CUI:C0272412 is_a: DOID:2529 ! splenic disease [Term] id: DOID:2531 name: hematologic cancer alt_id: DOID:1034 alt_id: DOID:2532 def: "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." [url:http\://en.wikipedia.org/wiki/Blood_cancer, url:http\://www.cancer.gov/dictionary/?CdrID=45708] subset: DO_cancer_slim subset: DO_CFDE_slim subset: DO_FlyBase_slim subset: DO_RAD_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "blood cancer" EXACT [] synonym: "Hematologic malignancy" EXACT [] synonym: "Hematologic neoplasm" EXACT [] synonym: "Hematological tumors" EXACT [] synonym: "hematopoietic and lymphoid system tumor" EXACT [] synonym: "hematopoietic cancer" EXACT [] synonym: "hematopoietic neoplasm" EXACT [] synonym: "hematopoietic tumors" EXACT [] synonym: "malignant hematopoietic neoplasm" EXACT [] xref: MESH:D019337 xref: NCI:C27134 xref: SNOMEDCT_US_2023_03_01:414388001 xref: UMLS_CUI:C0376544 is_a: DOID:0050686 ! organ system cancer is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:2533 name: splenic infarction subset: DO_rare_slim synonym: "Splenic infarct" EXACT [] xref: GARD:9973 xref: ICD10CM:D73.5 xref: MESH:D013159 xref: SNOMEDCT_US_2023_03_01:22996003 xref: UMLS_CUI:C0037998 is_a: DOID:2529 ! splenic disease [Term] id: DOID:2536 name: chronic inflammatory demyelinating polyneuritis subset: NCIthesaurus xref: ICD10CM:G61.81 xref: ICD9CM:357.81 xref: MESH:D020277 xref: NCI:C84636 xref: SNOMEDCT_US_2023_03_01:128209004 xref: UMLS_CUI:C0393819 is_a: DOID:2537 ! inflammatory and toxic neuropathy [Term] id: DOID:2537 name: inflammatory and toxic neuropathy def: "A neuropathy that is caused by drug ingestion, drug or chemical abuse, or industrial chemical exposure from the workplace or the environment." [url:https\://pubmed.ncbi.nlm.nih.gov/21897232/] xref: ICD9CM:357 xref: SNOMEDCT_US_2023_03_01:193172009 xref: UMLS_CUI:C0154758 is_a: DOID:870 ! neuropathy [Term] id: DOID:2538 name: Landau-Kleffner syndrome def: "A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients." [url:https\://rarediseases.org/rare-diseases/landau-kleffner-syndrome/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "acquired epileptic aphasia" EXACT [] xref: GARD:6855 xref: ICD10CM:G40.8 xref: MESH:D018887 xref: MIM:245570 xref: NCI:C84806 xref: ORDO:98818 xref: SNOMEDCT_US_2023_03_01:230438007 xref: UMLS_CUI:C0282512 is_a: DOID:0050704 ! childhood electroclinical syndrome [Term] id: DOID:254 name: hemangioma of intra-abdominal structure subset: NCIthesaurus synonym: "hemangioma of intra-abdominal structures" EXACT [] synonym: "hemangioma, Intra-abdominal" EXACT [] xref: ICD10CM:D18.03 xref: ICD9CM:228.04 xref: NCI:C3635 xref: SNOMEDCT_US_2023_03_01:93467008 xref: UMLS_CUI:C0154052 is_a: DOID:255 ! hemangioma [Term] id: DOID:2544 name: extratemporal epilepsy def: "An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe." [url:http\://www.webmd.com/epilepsy/extratemporal-cortical-resection] subset: NCIthesaurus xref: NCI:C7760 xref: SNOMEDCT_US_2023_03_01:111498005 xref: UMLS_CUI:C0270849 is_a: DOID:1826 ! epilepsy [Term] id: DOID:2545 name: obsolete congenital epilepsy is_obsolete: true [Term] id: DOID:2546 name: obsolete atonic epilepsy synonym: "Atonic epilepsy" EXACT [] synonym: "Epileptic seizures - atonic (finding)" EXACT [] is_obsolete: true [Term] id: DOID:2547 name: obsolete intractable epilepsy is_obsolete: true [Term] id: DOID:2548 name: reflex epilepsy def: "A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779309/] subset: NCIthesaurus synonym: "epilepsy, sensory-induced" EXACT [] xref: MESH:D020195 xref: NCI:C85041 xref: SNOMEDCT_US_2023_03_01:79745005 xref: UMLS_CUI:C0270857 is_a: DOID:0050706 ! variable age at onset electroclinical syndrome [Term] id: DOID:2549 name: obsolete aggravated epilepsy is_obsolete: true [Term] id: DOID:255 name: hemangioma def: "A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood." [url:http\://en.wikipedia.org/wiki/Hemangioma] subset: DO_cancer_slim subset: NCIthesaurus xref: ICD10CM:D18.0 xref: ICD9CM:228.00 xref: ICDO:9120/0 xref: MESH:D006391 xref: NCI:C3085 xref: SNOMEDCT_US_2023_03_01:154625006 xref: UMLS_CUI:C0018916 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:0060091 ! cardiovascular organ benign neoplasm is_a: DOID:178 ! vascular disease [Term] id: DOID:2550 name: tactile epilepsy subset: NCIthesaurus xref: NCI:C4687 xref: SNOMEDCT_US_2023_03_01:230449001 xref: UMLS_CUI:C0393724 is_a: DOID:2548 ! reflex epilepsy [Term] id: DOID:2551 name: obsolete anosognostic epilepsy is_obsolete: true [Term] id: DOID:2555 name: granulomatous angiitis subset: NCIthesaurus xref: MESH:D020293 xref: NCI:C34653 xref: SNOMEDCT_US_2023_03_01:1260127003 xref: UMLS_CUI:C0018202 is_a: DOID:865 ! vasculitis [Term] id: DOID:2556 name: relapsing polychondritis def: "A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body." [url:https\://pubmed.ncbi.nlm.nih.gov/26711694/, url:https\://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis] subset: DO_rare_slim subset: NCIthesaurus synonym: "Chondromalacia, systemic" EXACT [] xref: GARD:7417 xref: ICD10CM:M94.1 xref: MESH:D011081 xref: NCI:C157268 xref: SNOMEDCT_US_2023_03_01:72275000 xref: UMLS_CUI:C0032453 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:2557 ! chondromalacia [Term] id: DOID:2557 name: chondromalacia def: "A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint." [url:https\://www.health.harvard.edu/a_to_z/chondromalacia-a-to-z] xref: ICD10CM:M94.2 xref: ICD9CM:733.92 xref: MESH:D002357 xref: SNOMEDCT_US_2023_03_01:63198006 xref: UMLS_CUI:C0085700 is_a: DOID:6227 ! articular cartilage disease [Term] id: DOID:2559 name: opiate dependence def: "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Opiate_dependency] synonym: "Opioid type dependence" EXACT [] xref: ICD10CM:F11.2 xref: ICD9CM:304.00 xref: MESH:D009293 xref: SNOMEDCT_US_2023_03_01:75544000 xref: UMLS_CUI:C0524662 is_a: DOID:9974 ! drug dependence [Term] id: DOID:256 name: hemangioma of spleen subset: NCIthesaurus synonym: "Splenic hemangioma" EXACT [] xref: NCI:C8541 xref: SNOMEDCT_US_2023_03_01:93472004 xref: UMLS_CUI:C0685201 is_a: DOID:2529 ! splenic disease [Term] id: DOID:2560 name: morphine dependence def: "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Opioid_dependence] xref: MESH:D009021 xref: SNOMEDCT_US_2023_03_01:286934009 xref: UMLS_CUI:C0026552 is_a: DOID:2559 ! opiate dependence [Term] id: DOID:2562 name: suppurative periapical periodontitis subset: NCIthesaurus synonym: "Apical abscess" EXACT [] synonym: "Dentoalveolar abscess" EXACT [] synonym: "Periapical abscess" EXACT [] synonym: "Suppurative apical periodontitis" EXACT [] xref: MESH:D010482 xref: NCI:C34913 xref: SNOMEDCT_US_2023_03_01:34597006 xref: UMLS_CUI:C0031024 is_a: DOID:823 ! periapical periodontitis [Term] id: DOID:2563 name: obsolete Serratia septicemia subset: GOLD subset: gram-negative_bacterial_infectious_disease synonym: "Septicemia due to serratia" EXACT [] synonym: "Septicemia due to Serratia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2565 name: macular corneal dystrophy def: "A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea." [url:http\://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-macular, url:http\://en.wikipedia.org/wiki/Macular_corneal_dystrophy, url:http\://www.omim.org/entry/217800?search=217800&highlight=217800, url:https\://www.ncbi.nlm.nih.gov/pubmed/11017086, url:https\://www.ncbi.nlm.nih.gov/pubmed/17093400] subset: NCIthesaurus synonym: "Fehr corneal dystrophy" EXACT [] synonym: "MACULAR DYSTROPHY, CORNEAL, 1" EXACT [] xref: ICD10CM:H18.55 xref: ICD9CM:371.55 xref: MESH:D003317 xref: MIM:217800 xref: NCI:C34793 xref: SNOMEDCT_US_2023_03_01:60258001 xref: UMLS_CUI:C0024439 is_a: DOID:0060442 ! stromal dystrophy [Term] id: DOID:2566 name: corneal dystrophy alt_id: DOID:8944 subset: NCIthesaurus xref: ICD10CM:H18.5 xref: ICD9CM:371.5 xref: MESH:D003317 xref: NCI:C34512 xref: NCI:C34513 xref: SNOMEDCT_US_2023_03_01:5587004 xref: SNOMEDCT_US_2023_03_01:77797009 xref: UMLS_CUI:C0010035 xref: UMLS_CUI:C0010036 is_a: DOID:10124 ! corneal disease [Term] id: DOID:2567 name: obsolete primary Enterobacteriaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:2568 name: cervicitis alt_id: DOID:10110 def: "A cervix disease that is characterized by inflammation of the cervix." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23584805] subset: NCIthesaurus xref: ICD10CM:N72 xref: ICD9CM:616.0 xref: MESH:D002575 xref: NCI:C26716 xref: SNOMEDCT_US_2023_03_01:198199009 xref: SNOMEDCT_US_2023_03_01:237081003 xref: UMLS_CUI:C0007860 xref: UMLS_CUI:C0007861 is_a: DOID:2253 ! cervix disease [Term] id: DOID:2569 name: retinal drusen comment: OMIM mapping confirmed by DO. [SN]. xref: ICD9CM:362.57 xref: MESH:D015593 xref: SNOMEDCT_US_2023_03_01:141199000 xref: UMLS_CUI:C0035312 is_a: DOID:2007 ! degeneration of macula and posterior pole [Term] id: DOID:2570 name: malignant histiocytic disease xref: MESH:D015620 xref: SNOMEDCT_US_2023_03_01:127070008 xref: UMLS_CUI:C0019613 is_a: DOID:3405 ! histiocytosis [Term] id: DOID:2571 name: Langerhans-cell histiocytosis alt_id: DOID:10617 alt_id: DOID:10618 alt_id: DOID:10620 alt_id: DOID:10623 alt_id: DOID:10624 alt_id: DOID:10625 alt_id: DOID:2553 alt_id: DOID:2554 alt_id: DOID:9582 def: "A histiocytosis that is characterized by clonal proliferation of Langerhans cells." [url:http\://en.wikipedia.org/wiki/Langerhans_cell_histiocytosis] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: NCIthesaurus synonym: "Histiocytosis X" EXACT [] synonym: "Langerhan's cell histiocytosis" EXACT [] synonym: "Langerhans cell granulomatosis" EXACT [] synonym: "Letterer-Siwe disease" EXACT [] synonym: "Letterer-Siwe disease involving intra-abdominal lymph nodes" EXACT [] synonym: "Letterer-Siwe disease involving intrapelvic lymph nodes" EXACT [] synonym: "Letterer-Siwe disease involving intrathoracic lymph nodes" EXACT [] synonym: "Letterer-Siwe disease involving lymph nodes of axilla and upper limb" EXACT [] synonym: "Letterer-Siwe disease involving lymph nodes of head, face and neck" EXACT [] synonym: "Letterer-Siwe disease involving lymph nodes of head, face, and neck" EXACT [] synonym: "Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb" EXACT [] synonym: "Letterer-Siwe disease involving lymph nodes of multiple sites" EXACT [] synonym: "Letterer-Siwe disease involving spleen" EXACT [] synonym: "Letterer-Siwe disease of intra-abdominal lymph nodes" EXACT [] synonym: "Letterer-Siwe disease of intrapelvic lymph nodes" EXACT [] synonym: "Letterer-Siwe disease of intrathoracic lymph nodes" EXACT [] synonym: "Letterer-Siwe disease of lymph nodes of axilla and upper limb" EXACT [] synonym: "Letterer-Siwe disease of lymph nodes of axilla and/or upper limb" EXACT [] synonym: "Letterer-Siwe disease of lymph nodes of head, face and neck" EXACT [] synonym: "Letterer-Siwe disease of lymph nodes of head, face and/or neck" EXACT [] synonym: "Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb" EXACT [] synonym: "Letterer-Siwe disease of lymph nodes of inguinal region and lower limb" EXACT [] synonym: "Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb" EXACT [] synonym: "Letterer-Siwe disease of lymph nodes of multiple sites" EXACT [] synonym: "Letterer-Siwe disease of spleen" EXACT [] xref: ICD10CM:C96.0 xref: ICD10CM:C96.6 xref: ICD9CM:202.5 xref: ICDO:9751/1 xref: MESH:C538636 xref: MESH:D006646 xref: MIM:246400 xref: MIM:604856 xref: NCI:C3107 xref: NCI:C3160 xref: SNOMEDCT_US_2023_03_01:154583006 xref: SNOMEDCT_US_2023_03_01:234439008 xref: UMLS_CUI:C0019621 xref: UMLS_CUI:C0023381 is_a: DOID:3405 ! histiocytosis [Term] id: DOID:2573 name: obsolete drug-induced delirium synonym: "Drug-induced delirium (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2574 name: obsolete diabetes mellitus insulin dependent type uncontrolled with renal manifestations synonym: "Diabetes mellitus juvenile type, uncontrolled, with renal manifestations" EXACT [] synonym: "Diabetes mellitus type I [juvenile type], uncontrolled, with renal manifestations" EXACT [] is_obsolete: true [Term] id: DOID:2575 name: barbiturate dependence def: "A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Barbiturate_dependence] xref: ICD9CM:304.11 xref: UMLS_CUI:C0154482 is_a: DOID:9974 ! drug dependence [Term] id: DOID:2580 name: rhizomelic chondrodysplasia punctata def: "A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity." [url:http\://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata, url:http\://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata, url:https\://www.ncbi.nlm.nih.gov/pubmed/15679822] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Chondrodysplasia Punctata, Rhizomelic Form" EXACT [] xref: GARD:13160 xref: ICD10CM:E71.540 xref: MESH:D018902 xref: MIM:PS215100 xref: NCI:C85047 xref: ORDO:177 xref: SNOMEDCT_US_2023_03_01:56692003 xref: UMLS_CUI:C0282529 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2581 ! chondrodysplasia punctata [Term] id: DOID:2581 name: chondrodysplasia punctata def: "A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography." [url:https\://en.wikipedia.org/wiki/Chondrodysplasia_punctata#cite_note-Fitz2-1, url:https\://www.ncbi.nlm.nih.gov/pubmed/22229330] comment: DeObs MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "Chondrodysplasia punctata congenita" EXACT [] xref: GARD:8542 xref: ICD10CM:Q77.3 xref: MESH:D002806 xref: MIM:215105 xref: NCI:C84632 xref: ORDO:93442 xref: SNOMEDCT_US_2023_03_01:205486004 xref: UMLS_CUI:C0008445 is_a: DOID:0050177 ! monogenic disease is_a: DOID:225 ! syndrome property_value: narrowMatch "MESH:D002806" xsd:string [Term] id: DOID:2582 name: acatalasia def: "A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13." [url:https\://pubmed.ncbi.nlm.nih.gov/1999334/] subset: DO_rare_slim subset: NCIthesaurus synonym: "acatalasemia" EXACT [] synonym: "deficiency of catalase" EXACT [] xref: GARD:363 xref: MESH:D020642 xref: MIM:614097 xref: NCI:C84526 xref: ORDO:926 xref: SNOMEDCT_US_2023_03_01:190954001 xref: UMLS_CUI:C0268419 is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:2583 name: agammaglobulinemia alt_id: DOID:618 def: "A B cell deficiency that is caused by a reduction in all types of gamma globulins." [url:http\://en.wikipedia.org/wiki/Dysgammaglobulinemia] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "hypogammaglobulinemia" EXACT [] synonym: "IGHM" EXACT OMO:0003012 [] synonym: "mu heavy chain deficiency" EXACT [] xref: ICD10CM:D80.1 xref: ICD9CM:279.00 xref: MESH:D000361 xref: MIM:PS601495 xref: NCI:C26931 xref: SNOMEDCT_US_2023_03_01:119250001 xref: SNOMEDCT_US_2023_03_01:267512002 xref: UMLS_CUI:C0001768 xref: UMLS_CUI:C0086438 is_a: DOID:2115 ! B cell deficiency property_value: exactMatch "MESH:D000361" xsd:string [Term] id: DOID:2584 name: obsolete nephrotic syndrome with lesion of endothelial glomerulonephritis is_obsolete: true [Term] id: DOID:2585 name: obsolete nephrotic syndrome with lesion of segmental hyalinosis is_obsolete: true [Term] id: DOID:2586 name: obsolete nephrotic syndrome with lesion of hypocomplementemic glomerulonephritis synonym: "Nephrotic syndrome with Lesion of Hypocomplementemic Glomerulonephritis" EXACT [] is_obsolete: true [Term] id: DOID:2587 name: obsolete nephrotic syndrome with lesion of mesangiocapillary glomerulonephritis synonym: "Nephrotic syndrome with Lesion of Mesangiocapillary Glomerulonephritis" EXACT [] is_obsolete: true [Term] id: DOID:2588 name: obsolete nephrotic syndrome with lesion of persistent glomerulonephritis synonym: "Nephrotic syndrome with Lesion of Persistent Glomerulonephritis" EXACT [] is_obsolete: true [Term] id: DOID:2589 name: obsolete nephrotic syndrome with lesion of membranous glomerulonephritis synonym: "Nephrotic syndrome with lesion of membranous glomerulonephritis" EXACT [] is_obsolete: true [Term] id: DOID:259 name: obsolete abortion complicated by embolism is_obsolete: true [Term] id: DOID:2590 name: familial nephrotic syndrome def: "A nephrotic syndrome that has_material_basis_in genetic mutations." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19066979] subset: NCIthesaurus synonym: "Congenital nephrotic syndrome" EXACT [] xref: ICD10CM:N04 xref: MESH:C535761 xref: MIM:PS256300 xref: NCI:C35337 xref: SNOMEDCT_US_2023_03_01:48796009 xref: UMLS_CUI:C3501848 is_a: DOID:0050177 ! monogenic disease is_a: DOID:1184 ! nephrotic syndrome [Term] id: DOID:2591 name: obsolete nephrotic syndrome with lesion of lobular glomerulonephritis synonym: "Nephrotic syndrome with Lesion of Lobular Glomerulonephritis" EXACT [] is_obsolete: true [Term] id: DOID:2592 name: obsolete nephrotic syndrome with lesion of focal glomerulosclerosis synonym: "Nephrotic syndrome with Lesion of Focal Glomerulosclerosis" EXACT [] is_obsolete: true [Term] id: DOID:2595 name: glottis cancer subset: NCIthesaurus synonym: "Ca larynx - glottis" EXACT [] synonym: "malignant tumor of glottis" EXACT [] synonym: "malignant tumor of the Glottis" EXACT [] xref: ICD10CM:C32.0 xref: ICD9CM:161.0 xref: NCI:C3544 xref: SNOMEDCT_US_2023_03_01:187841006 xref: UMLS_CUI:C0153483 is_a: DOID:2596 ! larynx cancer [Term] id: DOID:2596 name: larynx cancer def: "A respiratory system cancer that is located_in the larynx." [url:http\://en.wikipedia.org/wiki/Larynx] subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim xref: GARD:6862 xref: ICD10CM:C32 xref: ICD9CM:161 xref: MESH:D007822 xref: NCI:C7484 xref: SNOMEDCT_US_2023_03_01:93859007 xref: UMLS_CUI:C0007107 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:786 ! laryngeal disease [Term] id: DOID:2597 name: glottis neoplasm subset: NCIthesaurus synonym: "neoplasm of glottis" EXACT [] synonym: "tumor of the Glottis" EXACT [] xref: NCI:C4425 xref: SNOMEDCT_US_2023_03_01:126693009 xref: UMLS_CUI:C0345713 is_a: DOID:2598 ! laryngeal benign neoplasm [Term] id: DOID:2598 name: laryngeal benign neoplasm subset: NCIthesaurus synonym: "laryngeal tumor" EXACT [] synonym: "larynx neoplasm" EXACT [] synonym: "neoplasm of larynx" EXACT [] xref: MESH:D007822 xref: NCI:C3156 xref: SNOMEDCT_US_2023_03_01:126692004 xref: UMLS_CUI:C0023055 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:786 ! laryngeal disease [Term] id: DOID:2599 name: glottis carcinoma subset: NCIthesaurus synonym: "carcinoma of glottis" EXACT [] synonym: "Glottic carcinoma" EXACT [] xref: NCI:C4923 xref: SNOMEDCT_US_2023_03_01:372103002 xref: UMLS_CUI:C0740083 is_a: DOID:2595 ! glottis cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:26 name: pancreas disease def: "An endocrine system disease that is located_in the pancreas." [url:http\://en.wikipedia.org/wiki/Pancreatic_disease] xref: ICD10CM:K86.8 xref: ICD9CM:577.8 xref: SNOMEDCT_US_2023_03_01:197566002 xref: UMLS_CUI:C0029771 is_a: DOID:28 ! endocrine system disease [Term] id: DOID:260 name: hepatic flexure cancer synonym: "Ca hepatic flexure - colon" EXACT [] synonym: "malignant neoplasm of hepatic flexure" EXACT [] synonym: "malignant tumor of hepatic flexure" EXACT [] xref: ICD10CM:C18.3 xref: ICD9CM:153.0 xref: SNOMEDCT_US_2023_03_01:93826009 xref: UMLS_CUI:C0153433 is_a: DOID:218 ! ascending colon cancer [Term] id: DOID:2600 name: laryngeal carcinoma def: "A larynx cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "cancer of larynx" EXACT [] synonym: "carcinoma of larynx" EXACT [] xref: NCI:C4855 xref: SNOMEDCT_US_2023_03_01:154480006 xref: UMLS_CUI:C0595989 is_a: DOID:2596 ! larynx cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:2601 name: juxtacortical chondroma subset: NCIthesaurus synonym: "Periosteal Chondroma" EXACT [] xref: NCI:C4302 xref: SNOMEDCT_US_2023_03_01:9266000 xref: UMLS_CUI:C0334548 is_a: DOID:2602 ! chondroma [Term] id: DOID:2602 name: chondroma def: "A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern." [url:http\://en.wikipedia.org/wiki/Chondroma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "central Chondroma" EXACT [] xref: GARD:6052 xref: ICDO:9220/0 xref: MESH:D002812 xref: NCI:C53459 xref: SNOMEDCT_US_2023_03_01:269638002 xref: UMLS_CUI:C0936248 is_a: DOID:0060084 ! cell type benign neoplasm [Term] id: DOID:2609 name: adenomyoma def: "A cell type benign neoplasm that has_material_basis_in gland and muscle components." [url:http\://en.wikipedia.org/wiki/Adenomyoma] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8932/0 xref: MESH:D018194 xref: NCI:C3726 xref: SNOMEDCT_US_2023_03_01:40293003 xref: UMLS_CUI:C0206622 is_a: DOID:0060084 ! cell type benign neoplasm property_value: exactMatch "MESH:D018194" xsd:string [Term] id: DOID:261 name: transverse colon cancer synonym: "Ca transverse colon" EXACT [] synonym: "malignant tumor of transverse colon" EXACT [] xref: ICD10CM:C18.4 xref: ICD9CM:153.1 xref: SNOMEDCT_US_2023_03_01:94105000 xref: UMLS_CUI:C0153434 is_a: DOID:219 ! colon cancer [Term] id: DOID:2614 name: serous surface papilloma subset: NCIthesaurus xref: ICDO:8461/0 xref: NCI:C4181 xref: SNOMEDCT_US_2023_03_01:67073007 xref: UMLS_CUI:C0334360 is_a: DOID:2615 ! papilloma [Term] id: DOID:2615 name: papilloma alt_id: DOID:1635 def: "A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue." [url:http\://www.merriam-webster.com/medlineplus/papilloma] subset: NCIthesaurus synonym: "papillomatosis" EXACT [] xref: ICDO:8050/0 xref: MESH:D010212 xref: NCI:C3713 xref: NCI:C7440 xref: SNOMEDCT_US_2023_03_01:711329002 xref: SNOMEDCT_US_2023_03_01:82049002 xref: UMLS_CUI:C0030354 xref: UMLS_CUI:C0205875 is_a: DOID:0060084 ! cell type benign neoplasm [Term] id: DOID:2616 name: Wolffian duct adenoma def: "A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14515653] synonym: "benign mesonephroma" EXACT [] synonym: "Mesonephric adenoma" EXACT [] synonym: "Mesonephroma, benign" EXACT [] xref: SNOMEDCT_US_2023_03_01:72889001 xref: UMLS_CUI:C0334530 is_a: DOID:0050622 ! reproductive organ benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:262 name: kidney hemangiopericytoma def: "A kidney cancer which is manifested in the kidney." [url:http\://en.wikipedia.org/wiki/Hemangiopericytoma, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1466284/] subset: NCIthesaurus synonym: "hemangiopericytoma of kidney" EXACT [] synonym: "renal hemangiopericytoma" EXACT [] xref: NCI:C4527 xref: SNOMEDCT_US_2023_03_01:254923001 xref: UMLS_CUI:C0346256 is_a: DOID:263 ! kidney cancer [Term] id: DOID:2620 name: obsolete ductal, lobular, and medullary neoplasm synonym: "ductal, lobular and medullary neoplasm (morphologic abnormality)" EXACT [] synonym: "ductal, lobular and medullary tumor (qualifier value)" EXACT [] is_obsolete: true [Term] id: DOID:2621 name: autonomic nervous system neoplasm def: "A peripheral nervous system neoplasm that is located_in the autonomic nervous system." [url:http\://en.wikipedia.org/wiki/Autonomic_nervous_system] subset: NCIthesaurus synonym: "tumor of Autonomic nervous system" EXACT [] xref: NCI:C5112 xref: UMLS_CUI:C1332356 is_a: DOID:1192 ! peripheral nervous system neoplasm [Term] id: DOID:2622 name: obsolete neuroblastic tumor is_obsolete: true [Term] id: DOID:2623 name: obsolete neuronal and glio-neuronal neoplasm synonym: "neuronal and Glio-neuronal tumor" EXACT [] synonym: "neuronal and mixed neuronal-glial tumor (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:2626 name: choroid plexus papilloma alt_id: DOID:3661 comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "childhood choroid plexus papilloma" EXACT [] xref: GARD:4214 xref: ICDO:9390/0 xref: MESH:D020288 xref: MIM:260500 xref: NCI:C3698 xref: NCI:C5800 xref: SNOMEDCT_US_2023_03_01:18021007 xref: UMLS_CUI:C0205770 xref: UMLS_CUI:C1332963 is_a: DOID:2615 ! papilloma is_a: DOID:60007 ! cerebrovascular benign neoplasm [Term] id: DOID:2629 name: obsolete papillary serous cystadenoma synonym: "Papillary serous cystadenoma (morphologic abnormality)" EXACT [] synonym: "Papillary serous cystadenoma NOS (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:263 name: kidney cancer alt_id: DOID:11834 alt_id: DOID:3676 def: "A urinary system cancer that is located_in the kidney." [url:http\://en.wikipedia.org/wiki/Kidney_cancer] subset: DO_cancer_slim subset: DO_CFDE_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "malignant neoplasm of kidney except pelvis" EXACT [] synonym: "malignant tumour of kidney" EXACT [] synonym: "renal cancer" EXACT [] xref: ICD10CM:C64 xref: ICD9CM:189.0 xref: MESH:D007680 xref: NCI:C120456 xref: NCI:C3150 xref: NCI:C7548 xref: SNOMEDCT_US_2023_03_01:126880001 xref: SNOMEDCT_US_2023_03_01:93849006 xref: UMLS_CUI:C0022665 xref: UMLS_CUI:C0494158 xref: UMLS_CUI:C0740457 is_a: DOID:3996 ! urinary system cancer is_a: DOID:557 ! kidney disease [Term] id: DOID:2630 name: obsolete papillary cystadenoma synonym: "Papillary Cystadenoma" EXACT [] synonym: "Papillary cystadenoma (morphologic abnormality)" EXACT [] synonym: "Papillary cystadenoma NOS (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:2631 name: obsolete serous cystadenoma synonym: "serous cystadenoma NOS (morphologic abnormality)" EXACT [] synonym: "serous Cystoma" EXACT [] synonym: "serous microcystic adenoma" EXACT [] is_obsolete: true [Term] id: DOID:2632 name: papillary serous adenocarcinoma alt_id: DOID:5589 def: "A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies." [url:https\://www.ajronline.org/doi/10.2214/ajr.182.6.1821534] subset: NCIthesaurus synonym: "Micropapillary serous carcinoma" EXACT [] synonym: "Papillary serous carcinoma" EXACT [] synonym: "serous surface papillary carcinoma" EXACT [] xref: NCI:C4182 xref: SNOMEDCT_US_2021_09_01:90725004 is_a: DOID:3112 ! papillary adenocarcinoma [Term] id: DOID:2633 name: obsolete mucinous cystadenoma synonym: "mucinous adenoma" EXACT [] synonym: "mucinous adenoma (morphologic abnormality)" EXACT [] synonym: "mucinous cystadenoma" EXACT [] synonym: "mucinous cystadenoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:2634 name: cystadenoma def: "An adenoma that forms a cyst." [url:http\://en.wikipedia.org/wiki/Cystadenoma] subset: NCIthesaurus synonym: "Cystoma" EXACT [] xref: ICDO:8440/0 xref: MESH:D003537 xref: NCI:C2972 xref: SNOMEDCT_US_2023_03_01:189680006 xref: UMLS_CUI:C0010633 is_a: DOID:657 ! adenoma [Term] id: DOID:2635 name: obsolete mucinous neoplasm synonym: "mucinous tumor" EXACT [] is_obsolete: true [Term] id: DOID:2636 name: ovarian Brenner tumor def: "An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary." [url:https\://en.wikipedia.org/wiki/Brenner_tumour] subset: DO_rare_slim subset: NCIthesaurus synonym: "benign ovarian Brenner tumor" EXACT [] synonym: "benign ovarian Brenner tumour" EXACT [] synonym: "ovarian Brenner tumour" EXACT [] xref: GARD:9397 xref: MESH:D001948 xref: NCI:C39954 xref: UMLS_CUI:C0006160 is_a: DOID:0060112 ! ovarian benign neoplasm [Term] id: DOID:2639 name: breast pericanalicular fibroadenoma def: "A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures." [url:https\://en.wikipedia.org/wiki/Fibroadenoma] subset: NCIthesaurus synonym: "Pericanalicular fibroadenoma" EXACT [] synonym: "Pericanalicular Fibroadenoma of breast" EXACT [] xref: NCI:C4272 xref: SNOMEDCT_US_2023_03_01:41382006 xref: UMLS_CUI:C0334497 is_a: DOID:1618 ! breast fibroadenoma [Term] id: DOID:264 name: hemangiopericytoma alt_id: DOID:5372 def: "A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries." [url:http\://en.wikipedia.org/wiki/Hemangiopericytoma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Haemangiopericytic meningioma" EXACT [] synonym: "hemangiopericytoma, malignant" EXACT [] synonym: "malignant hemangiopericytoma" EXACT [] xref: GARD:2627 xref: ICDO:9150/3 xref: MESH:D006393 xref: NCI:C3087 xref: SNOMEDCT_US_2023_03_01:134335004 xref: UMLS_CUI:C0018922 is_a: DOID:3850 ! hemangiopericytic tumor [Term] id: DOID:2640 name: struma ovarii alt_id: DOID:5209 def: "An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25640097, url:https\://www.ncbi.nlm.nih.gov/pubmed/26374222] subset: DO_cancer_slim subset: NCIthesaurus synonym: "benign struma ovarii" RELATED [] xref: ICDO:9090/0 xref: MESH:D013330 xref: NCI:C7468 xref: SNOMEDCT_US_2023_03_01:24327009 xref: UMLS_CUI:C0038478 is_a: DOID:0060112 ! ovarian benign neoplasm [Term] id: DOID:2641 name: ovarian germ cell monodermal and highly specialized teratoma def: "A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12440821] subset: NCIthesaurus synonym: "Ovarian Monodermal and Highly Specialized teratoma" EXACT [] xref: NCI:C8113 xref: UMLS_CUI:C0280134 is_a: DOID:5207 ! monodermal teratoma [Term] id: DOID:2642 name: obsolete lymphangiomyoma synonym: "Lymphangioleiomyoma" EXACT [] synonym: "Lymphangiomyoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:2643 name: perivascular epithelioid cell tumor subset: DO_cancer_slim subset: NCIthesaurus synonym: "neoplasm with Perivascular epithelioid cell differentiation" EXACT [] synonym: "PEComa" EXACT [] xref: MESH:D054973 xref: NCI:C38150 xref: SNOMEDCT_US_2023_03_01:388601000 xref: UMLS_CUI:C1300127 is_a: DOID:3316 ! perivascular tumor [Term] id: DOID:2645 name: benign mesothelioma alt_id: DOID:2644 def: "A cell type benign neoplasm that has_material_basis_in mesothelium." [url:http\://www.mayoclinic.org/diseases-conditions/mesothelioma/basics/definition/con-20026157?_ga=1.105809091.1500897651.1410548817] subset: DO_cancer_slim subset: NCIthesaurus synonym: "benign tumor of Mesothelium" EXACT [] xref: ICD10CM:C45 xref: MESH:D008654 xref: NCI:C3234 xref: SNOMEDCT_US_2023_03_01:154491004 xref: UMLS_CUI:C0025500 is_a: DOID:3314 ! angiomyolipoma [Term] id: DOID:2647 name: parachordoma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9373/0 xref: NCI:C6581 xref: SNOMEDCT_US_2023_03_01:404086000 xref: UMLS_CUI:C1266175 is_a: DOID:3350 ! mesenchymal cell neoplasm [Term] id: DOID:2648 name: sebaceous adenoma alt_id: DOID:7387 subset: NCIthesaurus synonym: "adenoma of the Sebaceous gland" EXACT [] synonym: "skin appendage sebaceous adenoma" EXACT [] xref: NCI:C4174 xref: SNOMEDCT_US_2023_03_01:78424008 xref: UMLS_CUI:C1368816 is_a: DOID:5759 ! sebaceous gland neoplasm [Term] id: DOID:2649 name: chondroblastoma def: "A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints." [url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/chondroblastoma, url:https\://www.ncbi.nlm.nih.gov/books/NBK536947/] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Chondroblastoma of bone" EXACT [] xref: GARD:6047 xref: ICDO:9230/1 xref: MESH:D002804 xref: NCI:C2945 xref: SNOMEDCT_US_2023_03_01:9001003 xref: UMLS_CUI:C0008441 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:0060094 ! bone benign neoplasm [Term] id: DOID:265 name: spleen angiosarcoma def: "An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen." [url:https\://pubs.rsna.org/doi/full/10.1148/radiol.2351040308] subset: NCIthesaurus synonym: "angiosarcoma of spleen" EXACT [] synonym: "Splenic hemangiosarcoma" EXACT [] xref: NCI:C4564 xref: SNOMEDCT_US_2023_03_01:187821001 xref: UMLS_CUI:C0346424 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:672 ! spleen cancer [Term] id: DOID:2651 name: obsolete intraductal papillomatosis synonym: "Intraductal papillomatosis" EXACT [] synonym: "Intraductal papillomatosis (morphologic abnormality)" EXACT [] synonym: "Intraductal papillomatosis NOS (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:2653 name: benign fibrous mesothelioma subset: NCIthesaurus synonym: "fibrous mesothelioma, benign" EXACT [] synonym: "localized benign fibrous Mesothelioma" EXACT [] xref: MESH:D054363 xref: NCI:C4457 xref: SNOMEDCT_US_2023_03_01:15702005 xref: UMLS_CUI:C0334511 is_a: DOID:2645 ! benign mesothelioma [Term] id: DOID:2654 name: obsolete serous neoplasm is_obsolete: true [Term] id: DOID:2656 name: breast intracanalicular fibroadenoma def: "A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts." [url:https\://en.wikipedia.org/wiki/Fibroadenoma] subset: NCIthesaurus xref: NCI:C4271 xref: SNOMEDCT_US_2023_03_01:72905006 xref: UMLS_CUI:C0334496 is_a: DOID:1618 ! breast fibroadenoma [Term] id: DOID:2658 name: dermoid cyst def: "A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm)." [url:https\://en.wikipedia.org/wiki/Dermoid_cyst] subset: DO_cancer_slim subset: NCIthesaurus synonym: "cystic dermoid choristoma" EXACT [] synonym: "Dermoid choristoma" EXACT [] synonym: "Dermoid tumour" EXACT [] synonym: "Mature cystic teratoma" EXACT [] synonym: "teratoma, benign" EXACT [] xref: ICD10CM:K09.8 xref: ICDO:9084/0 xref: MESH:D003884 xref: NCI:C9011 xref: SNOMEDCT_US_2023_03_01:189117002 xref: UMLS_CUI:C0011649 is_a: DOID:2660 ! cystic teratoma [Term] id: DOID:266 name: obsolete malignant soft tissue neoplasm of the spleen synonym: "malignant soft tissue tumor of Spleen" EXACT [] is_obsolete: true [Term] id: DOID:2660 name: cystic teratoma def: "A benign teratoma that is characterized by the presence of cysts or cystic spaces." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23905455] subset: NCIthesaurus xref: NCI:C9014 xref: SNOMEDCT_US_2023_03_01:42717009 xref: UMLS_CUI:C1368903 is_a: DOID:0080602 ! benign teratoma [Term] id: DOID:2661 name: myoepithelioma def: "A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland." [url:http\://medical-dictionary.thefreedictionary.com/myoepithelioma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "benign myoepithelioma" EXACT [] synonym: "Myoepithelial adenoma" EXACT [] synonym: "Myoepithelial neoplasm" EXACT [] xref: ICDO:8982/0 xref: MESH:D009208 xref: NCI:C40392 xref: SNOMEDCT_US_2023_03_01:69291002 xref: UMLS_CUI:C0027070 is_a: DOID:2664 ! sweat gland benign neoplasm [Term] id: DOID:2664 name: sweat gland benign neoplasm subset: NCIthesaurus synonym: "neoplasm of sweat gland" EXACT [] synonym: "Sweat gland tumor" EXACT [] synonym: "tumor of the Sweat gland" EXACT [] xref: MESH:D013544 xref: NCI:C3398 xref: SNOMEDCT_US_2023_03_01:126490003 xref: UMLS_CUI:C0038987 is_a: DOID:1383 ! sweat gland disease is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:2667 name: obsolete benign mesenchymoma comment: Obsolete concept in NCI, LS. synonym: "Mesenchymoma, benign" EXACT [] xref: NCI:C4267 is_obsolete: true [Term] id: DOID:2668 name: mesenchymoma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8990/3 xref: MESH:D008637 xref: NCI:C3233 xref: SNOMEDCT_US_2023_03_01:44524009 xref: UMLS_CUI:C0025464 is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:2669 name: Pacinian tumor subset: DO_cancer_slim subset: NCIthesaurus synonym: "Pacinian neurofibroma" EXACT [] xref: ICDO:9507/0 xref: NCI:C4328 xref: SNOMEDCT_US_2023_03_01:4230004 xref: UMLS_CUI:C0334599 is_a: DOID:962 ! neurofibroma [Term] id: DOID:2670 name: transitional papilloma subset: NCIthesaurus synonym: "transitional cell papilloma" EXACT [] synonym: "transitional cell papilloma, benign" EXACT [] xref: NCI:C4115 xref: SNOMEDCT_US_2023_03_01:44342003 xref: UMLS_CUI:C0334266 is_a: DOID:2615 ! papilloma [Term] id: DOID:2671 name: transitional cell carcinoma alt_id: DOID:3995 def: "A carcinoma that derives_from transitional epithelial cells." [url:http\://en.wikipedia.org/wiki/Transitional_cell_carcinoma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "transitional carcinoma" EXACT [] synonym: "transitional cell neoplasm" RELATED [] synonym: "transitional cell tumor" EXACT [] synonym: "urothelial cell carcinoma" EXACT [] xref: GARD:7794 xref: ICDO:8120/3 xref: MESH:D002295 xref: NCI:C2930 xref: NCI:C6783 xref: SNOMEDCT_US_2023_03_01:118287003 xref: SNOMEDCT_US_2023_03_01:27090000 xref: UMLS_CUI:C0007138 xref: UMLS_CUI:C0334265 is_a: DOID:305 ! carcinoma [Term] id: DOID:2673 name: adult cystic nephroma def: "A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium." [url:http\://www.pathologyoutlines.com/topic/kidneytumorcysticnephroma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/27831959] subset: NCIthesaurus synonym: "multilocular cystic nephroma, mixed epithelial stromal tumour and renal epithelial stromal tumour" EXACT [] xref: NCI:C7504 is_a: DOID:0080615 ! nephroma [Term] id: DOID:2676 name: obsolete papillary pseudomucinous cystadenoma synonym: "Papillary mucinous cystadenoma (morphologic abnormality)" EXACT [] synonym: "Papillary mucinous cystadenoma NOS (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:2678 name: obsolete adult mesoblastic nephroma def: "A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9669345] is_obsolete: true [Term] id: DOID:2679 name: dysembryoplastic neuroepithelial tumor subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Dysembryoplastic Neuroepithelial neoplasm" EXACT [] synonym: "dysembryoplastic neuroepithelial tumour" EXACT [] xref: GARD:10640 xref: ICDO:9413/0 xref: NCI:C9505 xref: SNOMEDCT_US_2023_03_01:87211000119104 xref: UMLS_CUI:C1266177 is_a: DOID:0060090 ! central nervous system benign neoplasm [Term] id: DOID:268 name: liver angiosarcoma def: "An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30093472] subset: DO_rare_slim subset: NCIthesaurus synonym: "angiosarcoma of liver" EXACT [] synonym: "hemangiosarcoma of the Liver" EXACT [] xref: GARD:5813 xref: ICD10CM:C22.3 xref: NCI:C4438 xref: SNOMEDCT_US_2023_03_01:187770005 xref: UMLS_CUI:C0345907 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:272 ! hepatic vascular disease is_a: DOID:3571 ! liver cancer [Term] id: DOID:2680 name: obsolete pediatric central nervous system tumor synonym: "pediatric neoplasm of CNS" EXACT [] is_obsolete: true [Term] id: DOID:2681 name: obsolete nevus synonym: "Mole NOS" EXACT [] synonym: "Mole of skin" EXACT [] synonym: "nevus" EXACT [] synonym: "nevus (disorder)" EXACT [] synonym: "nevus, NOS" EXACT [] synonym: "skin mole, NOS" EXACT [] is_obsolete: true [Term] id: DOID:2682 name: intracystic papillary adenoma synonym: "Intracystic papilloma" EXACT [] xref: ICDO:8504/0 xref: SNOMEDCT_US_2023_03_01:47488001 xref: UMLS_CUI:C0334374 is_a: DOID:657 ! adenoma [Term] id: DOID:2683 name: adenofibroma def: "A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands." [url:http\://www.ncbi.nlm.nih.gov/mesh/68000232] subset: DO_cancer_slim xref: ICDO:9013/0 xref: MESH:D000232 xref: SNOMEDCT_US_2023_03_01:189823009 xref: UMLS_CUI:C0001422 is_a: DOID:0060084 ! cell type benign neoplasm property_value: exactMatch "MESH:D000232" xsd:string [Term] id: DOID:2685 name: ossifying fibromyxoid tumor subset: DO_cancer_slim subset: NCIthesaurus synonym: "ossifying fibromyxoid tumour" EXACT [] synonym: "Ossifying Fibromyxoma" EXACT [] xref: ICDO:8842/0 xref: NCI:C6582 xref: SNOMEDCT_US_2023_03_01:404076001 xref: UMLS_CUI:C1266128 is_a: DOID:3350 ! mesenchymal cell neoplasm [Term] id: DOID:2687 name: skin sarcoma def: "A sarcoma that is located_in the skin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21146736] subset: NCIthesaurus synonym: "Cutaneous sarcoma" EXACT [] xref: NCI:C5585 xref: UMLS_CUI:C0856900 is_a: DOID:1115 ! sarcoma is_a: DOID:4159 ! skin cancer [Term] id: DOID:2689 name: lymphangiosarcoma alt_id: DOID:2686 def: "A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels." [url:https\://en.wikipedia.org/wiki/Lymphangiosarcoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/9796078] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Lymphangiosarcoma of Stewart and Treves" EXACT [] synonym: "malignant Lymphangioendothelioma" EXACT [] synonym: "skin lymphangiosarcoma" EXACT [] synonym: "Stewart-Treves syndrome" EXACT [] xref: ICDO:9170/3 xref: MESH:C537491 xref: MESH:D008204 xref: NCI:C3205 xref: NCI:C4490 xref: SNOMEDCT_US_2023_03_01:403986008 xref: SNOMEDCT_US_2023_03_01:62497000 xref: UMLS_CUI:C0024224 xref: UMLS_CUI:C0346082 is_a: DOID:0060073 ! lymphatic system cancer [Term] id: DOID:2691 name: myoma def: "A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29789793] subset: DO_cancer_slim subset: NCIthesaurus synonym: "benign neoplasm of the Muscle" EXACT [] xref: ICD10CM:D21 xref: ICDO:8895/0 xref: MESH:D009214 xref: NCI:C4882 xref: SNOMEDCT_US_2023_03_01:66357004 xref: UMLS_CUI:C0027086 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:461 ! muscle benign neoplasm [Term] id: DOID:2696 name: Leydig cell tumor alt_id: DOID:0050616 def: "A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle." [url:https\://en.wikipedia.org/wiki/Leydig_cell_tumour] subset: NCIthesaurus synonym: "Leydig cell neoplasm" EXACT [] xref: MESH:D007984 xref: NCI:C3188 xref: NCI:C4213 xref: SNOMEDCT_US_2023_03_01:45002009 xref: SNOMEDCT_US_2023_03_01:77870005 xref: UMLS_CUI:C0023601 xref: UMLS_CUI:C0334410 is_a: DOID:192 ! sex cord-gonadal stromal tumor [Term] id: DOID:2697 name: renal adenoma subset: NCIthesaurus synonym: "renal cell adenoma" EXACT [] xref: NCI:C8383 xref: SNOMEDCT_US_2023_03_01:41627005 xref: UMLS_CUI:C0334684 is_a: DOID:3116 ! kidney benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:2698 name: nephrogenic adenofibroma subset: NCIthesaurus synonym: "Metanephric adenofibroma" EXACT [] xref: NCI:C39812 xref: SNOMEDCT_US_2023_03_01:128760004 xref: UMLS_CUI:C1266141 is_a: DOID:3116 ! kidney benign neoplasm [Term] id: DOID:2699 name: obsolete sinonasal papilloma synonym: "Schneiderian papilloma" EXACT [] is_obsolete: true [Term] id: DOID:270 name: liver sarcoma def: "A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver." [url:http\://www.cancersupportivecare.com/liver.html] subset: NCIthesaurus synonym: "hepatic sarcoma" EXACT [] xref: NCI:C4437 xref: SNOMEDCT_US_2023_03_01:254601002 xref: UMLS_CUI:C0345906 is_a: DOID:3571 ! liver cancer [Term] id: DOID:2700 name: mucinous adenofibroma def: "An adenofibroma that is characterized by the presence of mucin." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977110/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9015/0 xref: NCI:C8978 xref: SNOMEDCT_US_2023_03_01:10705005 xref: UMLS_CUI:C0334499 is_a: DOID:2683 ! adenofibroma [Term] id: DOID:2701 name: nodular tenosynovitis alt_id: DOID:2665 subset: NCIthesaurus synonym: "benign synovioma" EXACT [] synonym: "benign tumor of Synovium" EXACT [] synonym: "localized Giant cell tumor of Tenosynovium" EXACT [] synonym: "Synovioma, benign" EXACT [] xref: MESH:D000070779 xref: NCI:C3829 xref: NCI:C6532 xref: SNOMEDCT_US_2023_03_01:5178002 xref: SNOMEDCT_US_2023_03_01:71508003 xref: UMLS_CUI:C0221289 xref: UMLS_CUI:C0588125 is_a: DOID:0060123 ! connective tissue benign neoplasm [Term] id: DOID:2702 name: pigmented villonodular synovitis subset: DO_rare_slim subset: NCIthesaurus synonym: "Diffuse Giant cell tumor of Tenosynovium" EXACT [] synonym: "villous tenosynovitis" EXACT [] xref: GARD:7396 xref: ICD10CM:M12.2 xref: MESH:D013586 xref: NCI:C3401 xref: SNOMEDCT_US_2023_03_01:202903009 xref: UMLS_CUI:C0039106 is_a: DOID:2703 ! synovitis [Term] id: DOID:2703 name: synovitis def: "A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling." [url:https\://en.wikipedia.org/wiki/Synovitis] {comment="sn:IEDB"} subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7722 xref: MESH:D013585 xref: NCI:C50766 xref: SNOMEDCT_US_2023_03_01:268092005 xref: UMLS_CUI:C0039103 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:2704 name: malignant giant cell tumor of the tendon sheath subset: NCIthesaurus synonym: "Giant cell tumour of tendon sheath, malignant" EXACT [] synonym: "malignant Giant cell neoplasm of the Tendon Sheath" EXACT [] xref: NCI:C6535 xref: SNOMEDCT_US_2023_03_01:128778009 xref: UMLS_CUI:C1266168 is_a: DOID:2706 ! synovium cancer [Term] id: DOID:2705 name: malignant giant cell tumor subset: NCIthesaurus synonym: "malignant Giant cell neoplasm" EXACT [] synonym: "malignant tumor, giant cell type" EXACT [] xref: NCI:C4090 xref: SNOMEDCT_US_2023_03_01:83950009 xref: UMLS_CUI:C0334229 is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:2706 name: synovium cancer subset: NCIthesaurus synonym: "malignant tumor of Synovium" EXACT [] xref: NCI:C6531 xref: UMLS_CUI:C1334624 is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:2708 name: mushroom workers' lung def: "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC470139/pdf/thorax00134-0122.pdf] xref: ICD10CM:J67.5 xref: ICD9CM:495.5 xref: MESH:D005203 xref: SNOMEDCT_US_2023_03_01:52333004 xref: UMLS_CUI:C0155889 is_a: DOID:841 ! extrinsic allergic alveolitis [Term] id: DOID:271 name: hemangioma of liver subset: NCIthesaurus synonym: "Angioma of Liver" EXACT [] synonym: "hepatic angioma" EXACT [] xref: NCI:C3869 xref: SNOMEDCT_US_2023_03_01:93469006 xref: UMLS_CUI:C0238246 is_a: DOID:255 ! hemangioma is_a: DOID:272 ! hepatic vascular disease is_a: DOID:916 ! liver benign neoplasm [Term] id: DOID:2710 name: sick building syndrome def: "An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sick%20building%20syndrome] xref: MESH:D018877 xref: SNOMEDCT_US_2023_03_01:19076009 xref: UMLS_CUI:C0037050 is_a: DOID:841 ! extrinsic allergic alveolitis [Term] id: DOID:2712 name: phimosis subset: NCIthesaurus synonym: "Tight foreskin" EXACT [] synonym: "Tight frenulum" EXACT [] xref: ICD10CM:N47.1 xref: MESH:D010688 xref: NCI:C26852 xref: SNOMEDCT_US_2023_03_01:449826002 xref: UMLS_CUI:C0031538 is_a: DOID:1529 ! penile disease [Term] id: DOID:2717 name: Bloom syndrome def: "A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability." [url:http\://ghr.nlm.nih.gov/condition/bloom-syndrome, url:https\://en.wikipedia.org/wiki/Bloom_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/10823897, url:https\://www.ncbi.nlm.nih.gov/pubmed/9482582] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Bloom-Torre-Machacek syndrome" EXACT [] synonym: "Congenital Telangiectatic Erythema syndrome" EXACT [] xref: MESH:D001816 xref: MIM:210900 xref: NCI:C2903 xref: ORDO:125 xref: SNOMEDCT_US_2023_03_01:4434006 xref: UMLS_CUI:C0005859 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:2718 name: hemopneumothorax def: "A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity." [url:https\://en.wikipedia.org/wiki/Hemopneumothorax] synonym: "haemopneumothorax" EXACT [] xref: ICD10CM:J94.2 xref: MESH:D006468 xref: SNOMEDCT_US_2023_03_01:16632002 xref: UMLS_CUI:C0019077 is_a: DOID:1673 ! pneumothorax [Term] id: DOID:272 name: hepatic vascular disease def: "A vascular disease that is located_in the liver." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21055687] subset: NCIthesaurus synonym: "vascular disorder of liver" EXACT [] xref: NCI:C35442 xref: SNOMEDCT_US_2023_03_01:235878005 xref: UMLS_CUI:C0400923 is_a: DOID:178 ! vascular disease is_a: DOID:409 ! liver disease [Term] id: DOID:2722 name: acrodermatitis def: "A dermatitis that selectively affects the hands and feet." [url:http\://en.wikipedia.org/wiki/Acrodermatitis] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5722 xref: MESH:D000169 xref: NCI:C84532 xref: SNOMEDCT_US_2023_03_01:8197001 xref: UMLS_CUI:C0001197 is_a: DOID:2723 ! dermatitis property_value: exactMatch "MESH:D000169" xsd:string [Term] id: DOID:2723 name: dermatitis alt_id: DOID:8614 alt_id: DOID:8917 def: "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin." [url:http\://en.wikipedia.org/wiki/Dermatitis, url:http\://www.nlm.nih.gov/medlineplus/eczema.html] subset: NCIthesaurus synonym: "eczema" EXACT [] synonym: "skin inflammation" EXACT [] xref: ICD10CM:L30.9 xref: MESH:D003872 xref: NCI:C2983 xref: SNOMEDCT_US_2023_03_01:238538009 xref: UMLS_CUI:C0011603 is_a: DOID:37 ! skin disease [Term] id: DOID:2724 name: obsolete port-wine stain synonym: "Cavernous naevus" EXACT [] synonym: "Naevus flammeus" EXACT [] synonym: "Port Wine type hemangioma" EXACT [] is_obsolete: true [Term] id: DOID:2725 name: capillary hemangioma def: "A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells." [url:https\://eyewiki.aao.org/Capillary_Hemangioma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Capillary haemangioma" EXACT [] synonym: "cellular hemangioma of Infancy" EXACT [] synonym: "Congenital vascular hamartoma" EXACT [] synonym: "Congenital vascular naevus" EXACT [] synonym: "Infantile hemangioma" EXACT [] synonym: "Juvenile hemangioma" EXACT [] synonym: "Strawberry haemangioma" EXACT [] synonym: "Strawberry nevus" EXACT [] synonym: "Strawberry nevus of skin" EXACT [] xref: ICD10CM:Q82.5 xref: ICDO:9131/0 xref: MESH:D018324 xref: NCI:C7457 xref: SNOMEDCT_US_2023_03_01:56975005 xref: UMLS_CUI:C0206733 is_a: DOID:0060094 ! bone benign neoplasm is_a: DOID:255 ! hemangioma is_a: DOID:930 ! orbital disease [Term] id: DOID:2726 name: obsolete acne nevus synonym: "nevus comedonicus (disorder)" EXACT [] synonym: "Pilosebaceous Nevoid disorder" EXACT [] is_obsolete: true [Term] id: DOID:2728 name: obsolete Pilosebaceous hamartoma is_obsolete: true [Term] id: DOID:2729 name: dyskeratosis congenita def: "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer." [url:http\://en.wikipedia.org/wiki/Dyskeratosis_congenita, url:http\://ghr.nlm.nih.gov/condition/dyskeratosis-congenita] comment: Xref MGI.\nOMIM mapping by NeuroDevNet. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "DKCD" EXACT OMO:0003012 [] xref: GARD:10905 xref: MESH:D019871 xref: MIM:PS127550 xref: NCI:C111802 xref: ORDO:1775 xref: SNOMEDCT_US_2023_03_01:74911008 xref: UMLS_CUI:C0265965 is_a: DOID:0080578 ! digenic disease is_a: DOID:37 ! skin disease [Term] id: DOID:2730 name: epidermolysis bullosa def: "A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin." [url:https\://rarediseases.org/rare-diseases/epidermolysis-bullosa/] subset: DO_rare_slim subset: NCIthesaurus synonym: "acantholysis bullosa" EXACT [] xref: GARD:6359 xref: ICD10CM:Q81 xref: MESH:D004820 xref: NCI:C67383 xref: SNOMEDCT_US_2023_03_01:205580008 xref: UMLS_CUI:C0014527 is_a: DOID:2731 ! vesiculobullous skin disease [Term] id: DOID:2731 name: vesiculobullous skin disease def: "A bullous skin disease that is characterized by fluid filled blisters." [url:https\://www.aafp.org/afp/2017/0601/p717.html] xref: MESH:D012872 xref: UMLS_CUI:C0037275 is_a: DOID:8502 ! bullous skin disease [Term] id: DOID:2732 name: Rothmund-Thomson syndrome def: "A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24." [url:https\://pubmed.ncbi.nlm.nih.gov/20113479/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Congenital poikiloderma" EXACT [] synonym: "RTS" EXACT OMO:0003012 [] xref: GARD:4392 xref: ICD10CM:Q82.8 xref: MESH:D011038 xref: MIM:268400 xref: NCI:C3335 xref: SNOMEDCT_US_2023_03_01:205572001 xref: UMLS_CUI:C0032339 is_a: DOID:37 ! skin disease property_value: exactMatch "MESH:D011038" xsd:string [Term] id: DOID:2733 name: skin atrophy subset: NCIthesaurus synonym: "atrophic condition of skin" EXACT [] synonym: "Atrophoderma" EXACT [] synonym: "Atrophy - skin" EXACT [] xref: ICD10CM:L90 xref: NCI:C35163 xref: SNOMEDCT_US_2023_03_01:16343004 xref: UMLS_CUI:C0151514 is_a: DOID:37 ! skin disease [Term] id: DOID:2734 name: keratosis follicularis comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Darier's disease" EXACT [] synonym: "DARIER-WHITE DISEASE" EXACT [] xref: ICD10CM:E50.8 xref: MESH:D007644 xref: MIM:124200 xref: NCI:C84665 xref: SNOMEDCT_US_2023_03_01:157017000 xref: UMLS_CUI:C0022595 is_a: DOID:161 ! keratosis [Term] id: DOID:2736 name: Hajdu-Cheney syndrome alt_id: DOID:2735 def: "A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21378985, url:https\://www.ncbi.nlm.nih.gov/pubmed/21378989, url:https\://www.ncbi.nlm.nih.gov/pubmed/9714016] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "acroosteolysis with osteoporosis and changes in skull and mandible" EXACT [] synonym: "arthrodentoosteodysplasia" EXACT [] synonym: "Cheney syndrome" EXACT [] synonym: "HJCYS" EXACT OMO:0003012 [] synonym: "serpentine fibula-polycystic kidney syndrome" EXACT [] synonym: "SFPKS" EXACT OMO:0003012 [] xref: GARD:508 xref: MESH:D030981 xref: MESH:D031845 xref: MIM:102500 xref: NCI:C35545 xref: NCI:C84745 xref: SNOMEDCT_US_2023_03_01:63122002 xref: UMLS_CUI:C0917715 xref: UMLS_CUI:C0917990 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080001 ! bone disease [Term] id: DOID:2737 name: obsolete Witkop-Von Sallmann disease synonym: "Hereditary benign intraepithelial dyskeratosis" EXACT [] synonym: "Hereditary benign intraepithelial dyskeratosis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2738 name: pseudoxanthoma elasticum def: "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system." [url:http\://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum, url:http\://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Gronblad-Strandberg syndrome" EXACT [] xref: GARD:9643 xref: MESH:D011561 xref: MIM:177850 xref: MIM:264800 xref: NCI:C85036 xref: ORDO:758 xref: SNOMEDCT_US_2023_03_01:7109007 xref: UMLS_CUI:C0033847 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:2739 name: Gilbert syndrome def: "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity." [url:http\://en.wikipedia.org/wiki/Gilbert%27s_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Constitutional hyperbilirubinemia" EXACT [] synonym: "Gilbert's disease" EXACT [] synonym: "Gilbert's syndrome" EXACT [] synonym: "Gilbert-Meulengracht syndrome" EXACT [] synonym: "hereditary nonhemolytic jaundice" EXACT [] xref: GARD:6507 xref: ICD10CM:E80.4 xref: MESH:D005878 xref: MIM:143500 xref: NCI:C84729 xref: SNOMEDCT_US_2023_03_01:27503000 xref: UMLS_CUI:C0017551 is_a: DOID:2741 ! bilirubin metabolic disorder [Term] id: DOID:2741 name: bilirubin metabolic disorder alt_id: DOID:2740 def: "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism." [url:http\://en.wikipedia.org/wiki/Hereditary_hyperbilirubinemia] subset: NCIthesaurus synonym: "hereditary hyperbilirubinemia" EXACT [] synonym: "hyperbilirubinaemia" RELATED [] synonym: "hyperbilirubinemia" EXACT [] xref: MESH:D006932 xref: MESH:D006933 xref: NCI:C84761 xref: SNOMEDCT_US_2023_03_01:154770008 xref: UMLS_CUI:C0020433 xref: UMLS_CUI:C0020435 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:2742 name: auditory system disease alt_id: DOID:1490 alt_id: DOID:2011 def: "A sensory system disease that is characterized by auditory dysfunction located_in the auditory system." [url:https\://books.google.com/books?id=r3I0BwAAQBAJ&newbks=1&newbks_redir=0&lpg=PP1&dq=disorders%20of%20auditory%20system&pg=PP1#v=onepage&q=disorders%20of%20auditory%20system&f=false] subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "ear and mastoid disease" EXACT [] xref: ICD10CM:H93.9 xref: ICD9CM:388.9 xref: MESH:D004427 xref: NCI:C26757 xref: SNOMEDCT_US_2023_03_01:194193002 xref: UMLS_CUI:C0013447 is_a: DOID:0050155 ! sensory system disease [Term] id: DOID:2743 name: pyeloureteritis cystica xref: ICD10CM:N28.85 xref: ICD9CM:590.3 xref: SNOMEDCT_US_2023_03_01:197776002 xref: UMLS_CUI:C0156254 is_a: DOID:2744 ! pyelitis [Term] id: DOID:2744 name: pyelitis subset: NCIthesaurus xref: ICD10CM:N12 xref: MESH:D011702 xref: NCI:C34964 xref: SNOMEDCT_US_2023_03_01:27174002 xref: UMLS_CUI:C0034183 is_a: DOID:557 ! kidney disease [Term] id: DOID:2745 name: narcissistic personality disorder def: "A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity." [url:http\://en.wikipedia.org/wiki/Narcissistic_personality_disorder] subset: NCIthesaurus xref: ICD10CM:F60.81 xref: ICD9CM:301.81 xref: MESH:D010554 xref: NCI:C92635 xref: SNOMEDCT_US_2023_03_01:80711002 xref: UMLS_CUI:C0027402 is_a: DOID:1510 ! personality disorder [Term] id: DOID:2746 name: glycogen storage disease V def: "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." [url:https\://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Glycogen storage disease 5" EXACT [] synonym: "glycogen storage disease type V" EXACT [] synonym: "Glycogen storage disease, type V" EXACT [] synonym: "McArdle's disease" EXACT [] synonym: "myophosphorylase deficiency" EXACT [] xref: GARD:6528 xref: ICD10CM:E74.04 xref: MESH:D006012 xref: MIM:232600 xref: NCI:C84738 xref: ORDO:368 xref: SNOMEDCT_US_2023_03_01:55912009 xref: UMLS_CUI:C0017924 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:2747 name: glycogen storage disease def: "A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types." [url:http\://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism, url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease, url:http\://www.slideshare.net/anjupaed/glcogen-storage-disorders] subset: NCIthesaurus synonym: "glycogenoses" NARROW [] synonym: "glycogenosis" EXACT [] xref: ICD10CM:E74.0 xref: ICD9CM:271.0 xref: MESH:D006008 xref: NCI:C61272 xref: SNOMEDCT_US_2023_03_01:267498002 xref: UMLS_CUI:C0017919 is_a: DOID:0050728 ! glycogen metabolism disorder [Term] id: DOID:2748 name: glycogen storage disease III def: "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21." [url:https\://pubmed.ncbi.nlm.nih.gov/17047887/] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "amylo 1,6 glucosidase deficiency" EXACT [] synonym: "deficiency of debranching enzyme" EXACT [] synonym: "deficiency of dextrin" EXACT [] synonym: "Glycogen storage disease 3" EXACT [] synonym: "Glycogen storage disease, type III" EXACT [] xref: ICD10CM:E74.03 xref: MESH:D006010 xref: MIM:232400 xref: NCI:C84736 xref: SNOMEDCT_US_2023_03_01:66937008 xref: UMLS_CUI:C0017922 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:2749 name: glycogen storage disease Ia def: "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21." [url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I, url:https\://pubmed.ncbi.nlm.nih.gov/8211187/] subset: DO_rare_slim xref: GARD:7864 xref: MIM:232200 xref: ORDO:79258 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081329 ! glycogen storage disease I [Term] id: DOID:275 name: gastric hemangioma subset: NCIthesaurus synonym: "hemangioma of stomach" EXACT [] xref: NCI:C5481 xref: UMLS_CUI:C1333770 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:255 ! hemangioma is_a: DOID:76 ! stomach disease [Term] id: DOID:2750 name: glycogen storage disease IV def: "A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12." [url:https\://pubmed.ncbi.nlm.nih.gov/17915577/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Amylopectinosis" EXACT [] synonym: "brancher deficiency glycogenosis" EXACT [] synonym: "Branching-transferase deficiency glycogenosis" EXACT [] synonym: "deficiency of 1,4-alpha-glucan branching enzyme" EXACT [] synonym: "Glycogen storage disease 4" EXACT [] synonym: "Glycogen storage disease, type IV" EXACT [] xref: GARD:2520 xref: ICD10CM:E74.09 xref: MESH:D006011 xref: MIM:232500 xref: NCI:C84737 xref: SNOMEDCT_US_2023_03_01:11179002 xref: UMLS_CUI:C0017923 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:2751 name: glycogen storage disease VIII def: "A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity." [url:https\://pubmed.ncbi.nlm.nih.gov/2558039/] synonym: "Glycogen storage disease 8" EXACT [] synonym: "glycogen storage disease type VIII" EXACT [] synonym: "glycogenosis type VIII" EXACT [] synonym: "hepatic glycogen phosphorylase kinase deficiency" EXACT [] xref: MESH:D006015 xref: SNOMEDCT_US_2023_03_01:41527003 xref: UMLS_CUI:C0017927 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:2752 name: glycogen storage disease II def: "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome." [url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "acid maltase deficiency" EXACT [] synonym: "deficiency of glucoamylase" EXACT [] synonym: "deficiency of maltase" EXACT [] synonym: "Generalized glycogenosis" EXACT [] synonym: "Glycogen storage disease 2" EXACT [] synonym: "glycogen storage disease type II" EXACT [] synonym: "Glycogen storage disease, type II" EXACT [] synonym: "Glycogenosis, type 2" EXACT [] synonym: "Lysosomal alpha-1,4-glucosidase deficiency" EXACT [] synonym: "Pompe's disease" EXACT [] xref: GARD:5714 xref: ICD10CM:E74.02 xref: MESH:D006009 xref: MIM:232300 xref: NCI:C84734 xref: SNOMEDCT_US_2023_03_01:237967002 xref: UMLS_CUI:C0017921 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:2753 name: obsolete nervous system lysosomal storage disease is_obsolete: true [Term] id: DOID:2754 name: glycogen storage disease VI def: "A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation." [url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI, url:http\://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi, url:https\://pubmed.ncbi.nlm.nih.gov/25266922/, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "Glycogen storage disease 6" EXACT [] synonym: "glycogen storage disease type VI" EXACT [] synonym: "hepatic glycogen phosphorylase deficiency" EXACT [] synonym: "hepatophosphorylase deficiency glycogenosis" EXACT [] synonym: "Hers' disease" EXACT [] xref: ICD10CM:E74.09 xref: MESH:D006013 xref: MIM:232700 xref: NCI:C126875 xref: ORDO:369 xref: SNOMEDCT_US_2023_03_01:29291001 xref: UMLS_CUI:C0017925 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:2755 name: Mycobacterium avium complex disease def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons." [url:https\://clinicalinfo.hiv.gov/en/guidelines/adult-and-adolescent-opportunistic-infection/mycobacterium-avium-complex-disease, url:https\://pubmed.ncbi.nlm.nih.gov/35400550/] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "Infection due to Mycobacterium intracellulare" EXACT [] synonym: "MAC disease" EXACT [] synonym: "Mycobacterium avium Complex" EXACT [] synonym: "Mycobacterium Avium Infection" EXACT [] xref: GARD:7123 xref: MESH:D015270 xref: NCI:C36197 xref: SNOMEDCT_US_2023_03_01:14009004 xref: UMLS_CUI:C0026916 is_a: DOID:0050338 ! primary bacterial infectious disease property_value: exactMatch "MESH:D015270" xsd:string [Term] id: DOID:2756 name: obsolete paratuberculosis subset: gram-positive_bacterial_infectious_disease synonym: "Infection due to Mycobacterium paratuberculosis (disorder)" EXACT [] synonym: "Johne's disease (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2757 name: obsolete Mycobacterium infectious disease subset: gram-positive_bacterial_infectious_disease synonym: "Infection due to mycobacteria" EXACT [] synonym: "Mycobacterial disease" EXACT [] synonym: "Mycobacterial disease NOS (disorder)" EXACT [] synonym: "Mycobacterial Infection" EXACT [] synonym: "Mycobacterium infection, unspecified (disorder)" EXACT [] synonym: "Unspecified disease due to mycobacteria" EXACT [] is_obsolete: true [Term] id: DOID:2762 name: bone carcinoma def: "A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: NCIthesaurus xref: NCI:C36082 xref: SNOMEDCT_US_2023_03_01:269568000 xref: UMLS_CUI:C0700110 is_a: DOID:184 ! bone cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:2763 name: ethmoid sinus squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the ethmoid sinus." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726268/] subset: NCIthesaurus synonym: "Epidermoid carcinoma of the ethmoidal sinus" EXACT [] xref: NCI:C6065 xref: SNOMEDCT_US_2023_03_01:1260046004 xref: UMLS_CUI:C1333477 is_a: DOID:1363 ! ethmoid sinus cancer is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:2764 name: ethmoid sinus adenoid cystic carcinoma subset: NCIthesaurus synonym: "adenoid cystic carcinoma of ethmoid sinus" RELATED [] synonym: "adenoid cystic carcinoma of the ethmoid sinus" EXACT [] xref: NCI:C6238 xref: UMLS_CUI:C1333473 is_a: DOID:1363 ! ethmoid sinus cancer [Term] id: DOID:2766 name: ethmoid sinus adenocarcinoma def: "An ethmoid sinus cancer that derives from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of ethmoid sinus" RELATED [] synonym: "adenocarcinoma of the ethmoid sinus" EXACT [] xref: NCI:C6237 xref: UMLS_CUI:C1333472 is_a: DOID:1363 ! ethmoid sinus cancer is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:2768 name: transient tic disorder def: "A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months." [url:http\://en.wikipedia.org/wiki/Tic_disorder] subset: NCIthesaurus xref: ICD10CM:F95.0 xref: ICD9CM:307.21 xref: MESH:D013981 xref: NCI:C116767 xref: SNOMEDCT_US_2023_03_01:192622000 xref: UMLS_CUI:C0040702 is_a: DOID:2769 ! tic disorder [Term] id: DOID:2769 name: tic disorder def: "A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occurring intermittently and unpredictably out of a background of normal motor activity." [url:http\://www.tsa-usa.org/Medical/definitions.html, url:https\://www.cdc.gov/ncbddd/tourette/diagnosis.html] xref: ICD10CM:F95 xref: ICD9CM:307.20 xref: MESH:D013981 xref: SNOMEDCT_US_2023_03_01:155005001 xref: UMLS_CUI:C0040188 is_a: DOID:0060038 ! specific developmental disorder [Term] id: DOID:277 name: chorioangioma subset: NCIthesaurus synonym: "Placental hemangioma" EXACT [] xref: MESH:D006391 xref: NCI:C4868 xref: SNOMEDCT_US_2023_03_01:699948001 xref: UMLS_CUI:C0677608 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:255 ! hemangioma is_a: DOID:780 ! placenta disease [Term] id: DOID:2770 name: obsolete diaper rash synonym: "Diaper or napkin erythema" EXACT [] synonym: "Diaper or napkin rash" EXACT [] synonym: "Diaper rash (disorder)" EXACT [] synonym: "Irritant contact dermatitis due to contact with urine and/or faeces" EXACT [] synonym: "Jacquet's dermatitis" EXACT [] xref: ICD10CM:L22 xref: ICD9CM:691.0 xref: MESH:D003963 xref: NCI:C111886 xref: UMLS_CUI:C0011974 is_obsolete: true [Term] id: DOID:2771 name: obsolete atopic dermatitis and related conditions is_obsolete: true [Term] id: DOID:2772 name: irritant dermatitis def: "A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation." [url:https\://www.dermcoll.edu.au/atoz/irritant-contact-dermatitis-icd/] subset: NCIthesaurus synonym: "irritant contact dermatitis" EXACT [] synonym: "primary irritant dermatitis" EXACT [] xref: ICD10CM:L24.9 xref: MESH:D017453 xref: NCI:C27151 xref: SNOMEDCT_US_2023_03_01:110979008 xref: UMLS_CUI:C0162823 is_a: DOID:2773 ! contact dermatitis [Term] id: DOID:2773 name: contact dermatitis subset: NCIthesaurus synonym: "Contact dermatitis/eczema" EXACT [] synonym: "Contact eczema" EXACT [] synonym: "dermatitis venenata" EXACT [] synonym: "Dermatitis, venenata" EXACT [] xref: ICD10CM:L25.9 xref: MESH:D003877 xref: NCI:C26743 xref: SNOMEDCT_US_2023_03_01:156338009 xref: UMLS_CUI:C0011616 is_a: DOID:2723 ! dermatitis [Term] id: DOID:2775 name: long bone adamantinoma def: "An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation." [url:http\://atlasgeneticsoncology.org/Tumors/AdamantinID5154.html] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus xref: MESH:D050398 xref: MIM:102660 xref: NCI:C7644 xref: SNOMEDCT_US_2023_03_01:56763007 xref: UMLS_CUI:C0334556 is_a: DOID:2776 ! adamantinoma [Term] id: DOID:2776 name: adamantinoma def: "A bone cancer that is located_in almost exclusively in the long bones." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30844202] subset: DO_rare_slim subset: NCIthesaurus synonym: "adamantinoma of long bones" EXACT [] xref: MESH:D050398 xref: NCI:C7644 xref: ORDO:55881 xref: SNOMEDCT_US_2023_03_01:56763007 xref: UMLS_CUI:C0334556 is_a: DOID:184 ! bone cancer property_value: exactMatch "MESH:D050398" xsd:string [Term] id: DOID:2777 name: obsolete malignant neoplasm of short bones of upper limb synonym: "malignant neoplasm of short bone of upper limb" EXACT [] is_obsolete: true [Term] id: DOID:2778 name: obsolete tumors of body of uterus, with delivery is_obsolete: true [Term] id: DOID:2779 name: obsolete tumors of body of uterus complicating pregnancy, childbirth, or the puerperium is_obsolete: true [Term] id: DOID:2780 name: rectosigmoid junction neoplasm subset: NCIthesaurus synonym: "neoplasm of rectosigmoid junction" EXACT [] synonym: "rectosigmoid neoplasm" EXACT [] synonym: "Rectosigmoid tumor" EXACT [] xref: NCI:C4877 xref: SNOMEDCT_US_2023_03_01:126848003 xref: UMLS_CUI:C0345873 is_a: DOID:1896 ! sigmoid neoplasm [Term] id: DOID:2781 name: rectosigmoid cancer subset: NCIthesaurus xref: NCI:C7421 xref: UMLS_CUI:C1327709 is_a: DOID:2782 ! rectosigmoid junction cancer [Term] id: DOID:2782 name: rectosigmoid junction cancer subset: NCIthesaurus synonym: "malignant neoplasm of rectosigmoid" EXACT [] synonym: "malignant neoplasm of rectosigmoid junction" EXACT [] synonym: "malignant Rectosigmoid tumor" EXACT [] synonym: "malignant tumor of rectosigmoid junction" EXACT [] xref: ICD10CM:C19 xref: ICD9CM:154.0 xref: NCI:C7420 xref: SNOMEDCT_US_2023_03_01:363414004 xref: UMLS_CUI:C0153443 is_a: DOID:12192 ! sigmoid colon cancer [Term] id: DOID:2784 name: lung sarcoma def: "A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin." [url:https\://www.sciencedirect.com/topics/medicine-and-dentistry/lung-sarcoma] subset: NCIthesaurus synonym: "pulmonary sarcoma" EXACT [] xref: NCI:C4860 xref: UMLS_CUI:C0598790 is_a: DOID:1115 ! sarcoma is_a: DOID:1324 ! lung cancer [Term] id: DOID:2785 name: Dandy-Walker syndrome def: "A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle." [url:http\://omim.org/entry/220200, url:https\://en.wikipedia.org/wiki/Dandy-Walker_syndrome, url:https\://ghr.nlm.nih.gov/condition/dandy-walker-malformation] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Atresia of foramina of Magendie and Luschka" EXACT [] xref: GARD:6242 xref: ICD10CM:Q03.1 xref: MESH:D003616 xref: MIM:220200 xref: NCI:C75012 xref: SNOMEDCT_US_2023_03_01:14447001 xref: UMLS_CUI:C0010964 is_a: DOID:2786 ! cerebellar disease [Term] id: DOID:2786 name: cerebellar disease def: "A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome." [url:https\://en.wikipedia.org/wiki/Cerebellum, url:https\://www.ncbi.nlm.nih.gov/pubmed/15377747] subset: DO_RAD_slim xref: MESH:D002526 xref: SNOMEDCT_US_2023_03_01:267691001 xref: UMLS_CUI:C0007760 is_a: DOID:936 ! brain disease [Term] id: DOID:2788 name: obsolete Ciliophora infectious disease def: "An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia." [url:http\://en.wikipedia.org/wiki/Ciliate] is_obsolete: true [Term] id: DOID:2789 name: parasitic protozoa infectious disease alt_id: DOID:0060003 alt_id: DOID:10553 alt_id: DOID:3734 alt_id: DOID:3804 alt_id: DOID:947 def: "A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes." [url:http\://en.wikipedia.org/wiki/Protozoan, url:http\://en.wikipedia.org/wiki/Protozoan_infection] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "mastigophora infectious disease" EXACT [] synonym: "sarcomastigophora infectious disease" EXACT [] xref: ICD10CM:B64 xref: MESH:D011528 xref: NCI:C34953 xref: SNOMEDCT_US_2023_03_01:95896000 xref: UMLS_CUI:C0033740 is_a: DOID:1398 ! parasitic infectious disease [Term] id: DOID:2790 name: necatoriasis alt_id: DOID:13048 def: "A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching." [url:http\://en.wikipedia.org/wiki/Necator_americanus] subset: DO_infectious_disease_slim subset: NCIthesaurus xref: ICD10CM:B76.1 xref: MESH:D009332 xref: NCI:C34838 xref: SNOMEDCT_US_2023_03_01:36667009 xref: UMLS_CUI:C0027528 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:2791 name: obsolete hookworm infectious disease alt_id: DOID:10954 def: "A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria." [url:http\://en.wikipedia.org/wiki/Hookworm, url:http\://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm] synonym: "ancylostomiasis and necatoriasis" EXACT [] is_obsolete: true [Term] id: DOID:2797 name: idiopathic interstitial pneumonia def: "A pneumonia located_in the lung parenchyma of unknown cause." [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh, url:https\://www.ncbi.nlm.nih.gov/pubmed/11790668] synonym: "Diffuse idiopathic pulmonary fibrosis" EXACT [] synonym: "Idiopathic fibrosing alveolitis" EXACT [] synonym: "IPF" RELATED OMO:0003012 [] xref: ICD10CM:J84.114 xref: MESH:D000080203 xref: SNOMEDCT_US_2023_03_01:129459004 xref: UMLS_CUI:C0085786 is_a: DOID:552 ! pneumonia [Term] id: DOID:2799 name: bronchiolitis obliterans def: "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiolitis%20obliterans] subset: DO_rare_slim subset: NCIthesaurus synonym: "Bronchiolitis exudativa" EXACT [] synonym: "Bronchiolitis fibrosa obliterans" EXACT [] synonym: "Obliterative bronchiolitis" EXACT [] xref: GARD:9551 xref: MESH:D001989 xref: NCI:C62580 xref: SNOMEDCT_US_2023_03_01:40100001 xref: UMLS_CUI:C0006272 is_a: DOID:1176 ! bronchial disease is_a: DOID:3082 ! interstitial lung disease [Term] id: DOID:28 name: endocrine system disease def: "A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body." [url:http\://en.wikipedia.org/wiki/Endocrine_system] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim subset: DO_RAD_slim subset: NCIthesaurus xref: ICD10CM:E34.9 xref: ICD9CM:259.9 xref: MESH:D004700 xref: NCI:C3009 xref: SNOMEDCT_US_2023_03_01:67432001 xref: UMLS_CUI:C0014130 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:280 name: obsolete ear tuberculosis subset: gram-positive_bacterial_infectious_disease synonym: "tuberculosis of ear" EXACT [] is_obsolete: true [Term] id: DOID:2800 name: acute interstitial pneumonia def: "A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure." [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh, url:https\://www.ncbi.nlm.nih.gov/pubmed/11790668] subset: DO_rare_slim subset: NCIthesaurus synonym: "accelerated interstitial pneumonia" EXACT [] synonym: "acute interstitial pneumonitis" EXACT [] synonym: "AIP" EXACT OMO:0003012 [] synonym: "Hamman-Rich disease" EXACT [] synonym: "Hamman-Rich syndrome" EXACT [] synonym: "Idiopathic pulmonary fibrosis, acute fatal form" EXACT [] xref: GARD:12835 xref: ICD10CM:J84.114 xref: ICD9CM:516.33 xref: NCI:C35806 xref: ORDO:79126 xref: SNOMEDCT_US_2023_03_01:129459004 xref: UMLS_CUI:C1279945 is_a: DOID:2797 ! idiopathic interstitial pneumonia [Term] id: DOID:2801 name: nonspecific interstitial pneumonia def: "An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur." [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh] subset: NCIthesaurus synonym: "NSIP" EXACT OMO:0003012 [] xref: NCI:C35717 xref: SNOMEDCT_US_2023_03_01:129452008 xref: UMLS_CUI:C1290344 is_a: DOID:2797 ! idiopathic interstitial pneumonia [Term] id: DOID:2809 name: obsolete primary Bartonellaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:2810 name: middle lobe syndrome def: "A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection." [url:http\://www.thepcrj.org/journ/aop/pcrj-2008-09-0085.pdf] xref: MESH:D008878 xref: SNOMEDCT_US_2023_03_01:28295001 xref: UMLS_CUI:C0026069 is_a: DOID:850 ! lung disease property_value: exactMatch "MESH:D008878" xsd:string [Term] id: DOID:2814 name: malignant neoplasm of acoustic nerve subset: NCIthesaurus synonym: "malignant tumor of acoustic vestibular nerve" EXACT [] synonym: "malignant tumor of the Vestibulocochlear nerve" EXACT [] synonym: "malignant tumour of acoustic vestibular nerve" EXACT [] xref: ICD10CM:C72.4 xref: NCI:C4539 xref: SNOMEDCT_US_2023_03_01:93660000 xref: UMLS_CUI:C0346331 is_a: DOID:12657 ! vestibulocochlear nerve disease is_a: DOID:2815 ! cranial nerve malignant neoplasm is_a: DOID:833 ! auditory system cancer [Term] id: DOID:2815 name: cranial nerve malignant neoplasm alt_id: DOID:338 def: "A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells." [url:https\://link.springer.com/chapter/10.1007/978-3-642-02874-8_15] subset: NCIthesaurus synonym: "malignant neoplasm of cranial nerve" EXACT [] synonym: "malignant tumor of cranial nerve" EXACT [] synonym: "malignant tumor of the Cranial nerve" EXACT [] xref: ICD10CM:C72.50 xref: ICD9CM:192.0 xref: MESH:D003390 xref: NCI:C2963 xref: NCI:C3571 xref: SNOMEDCT_US_2023_03_01:126966009 xref: SNOMEDCT_US_2023_03_01:188311003 xref: UMLS_CUI:C0010267 xref: UMLS_CUI:C0153644 is_a: DOID:1192 ! peripheral nervous system neoplasm is_a: DOID:3620 ! central nervous system cancer is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:2816 name: malignant oculomotor nerve tumor subset: NCIthesaurus synonym: "IIIrd Cranial nerve neoplasm, malignant" EXACT [] synonym: "primary malignant neoplasm of oculomotor nerve" EXACT [] xref: NCI:C6995 xref: SNOMEDCT_US_2023_03_01:93929003 xref: UMLS_CUI:C0686417 is_a: DOID:2817 ! cranial nerve III tumor [Term] id: DOID:2817 name: cranial nerve III tumor subset: NCIthesaurus synonym: "cranial nerve III tumour" EXACT [] synonym: "neoplasm of oculomotor nerve" EXACT [] synonym: "Oculomotor nerve tumor" EXACT [] synonym: "Oculomotor nerve tumour" EXACT [] xref: NCI:C6994 xref: SNOMEDCT_US_2023_03_01:126969002 xref: UMLS_CUI:C1263895 is_a: DOID:2815 ! cranial nerve malignant neoplasm is_a: DOID:562 ! third cranial nerve disease [Term] id: DOID:2825 name: nose disease synonym: "disorder of the nose" EXACT [] synonym: "nasal disorder" EXACT [] xref: MESH:D009668 xref: SNOMEDCT_US_2023_03_01:89488007 xref: UMLS_CUI:C0028432 is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:2828 name: acalculous cholecystitis alt_id: DOID:2827 def: "A cholecystitis characterized by the absence of gallstones." [url:https\://pubmed.ncbi.nlm.nih.gov/30487697/, url:https\://pubmed.ncbi.nlm.nih.gov/34657038/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362504/] subset: NCIthesaurus synonym: "acute acalculous cholecystitis" EXACT [] synonym: "acute cholecystitis without calculus" EXACT [] synonym: "cholecystitis without calculus" EXACT [] xref: MESH:D042101 xref: NCI:C35578 xref: SNOMEDCT_US_2023_03_01:19968009 xref: UMLS_CUI:C0267841 is_a: DOID:1949 ! cholecystitis property_value: exactMatch "MESH:D042101" xsd:string [Term] id: DOID:283 name: obsolete leukemic reticuloendotheliosis of intra-abdominal lymph nodes synonym: "Leukemic reticuloendotheliosis involving intra-abdominal lymph nodes" EXACT [] synonym: "Leukemic reticuloendotheliosis of intra-abdominal lymph nodes (disorder)" EXACT [] synonym: "Leukemic reticuloendotheliosis of intra-abdominal lymph nodes [dup] (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2832 name: geotrichosis def: "An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people." [url:https\://pubmed.ncbi.nlm.nih.gov/35018329/] subset: DO_infectious_disease_slim xref: ICD10CM:B48.3 xref: MESH:D005847 xref: SNOMEDCT_US_2023_03_01:187105008 xref: UMLS_CUI:C0017455 is_a: DOID:2473 ! opportunistic mycosis [Term] id: DOID:2833 name: dehydration polycythemia subset: NCIthesaurus xref: NCI:C27310 xref: UMLS_CUI:C0856815 is_a: DOID:2834 ! acquired polycythemia [Term] id: DOID:2834 name: acquired polycythemia subset: NCIthesaurus synonym: "Polycythemia, secondary" EXACT [] synonym: "secondary polycythemia" EXACT [] xref: ICD10CM:D75.1 xref: ICD9CM:289.0 xref: NCI:C27178 xref: SNOMEDCT_US_2023_03_01:154835002 xref: UMLS_CUI:C1318533 is_a: DOID:8432 ! polycythemia [Term] id: DOID:2835 name: polycythemia due to hypoxia subset: NCIthesaurus xref: NCI:C27312 xref: UMLS_CUI:C0856818 is_a: DOID:2834 ! acquired polycythemia [Term] id: DOID:2838 name: stress polycythemia subset: NCIthesaurus synonym: "Gaisbock's syndrome" EXACT [] synonym: "Polycythemia, emotional" EXACT [] xref: ICD10CM:D75.1 xref: NCI:C27174 xref: SNOMEDCT_US_2023_03_01:191371001 xref: UMLS_CUI:C0541719 is_a: DOID:2834 ! acquired polycythemia [Term] id: DOID:2839 name: erythropoietin polycythemia subset: NCIthesaurus synonym: "Nephrogenous polycythemia" EXACT [] synonym: "Polycythaemia due to Excess Erythropoetin Production" EXACT [] synonym: "Polycythemia due to excess erythopoetin production" EXACT [] synonym: "Polycythemia, nephrogenous" EXACT [] synonym: "secondary polycythemia with excess erythropoietin" EXACT [] xref: ICD10CM:D75.1 xref: NCI:C35434 xref: SNOMEDCT_US_2023_03_01:367328005 xref: UMLS_CUI:C0391869 is_a: DOID:2834 ! acquired polycythemia [Term] id: DOID:284 name: obsolete malignant neoplasm of abdomen synonym: "malignant tumor of abdomen (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2841 name: asthma alt_id: DOID:12703 alt_id: DOID:13829 alt_id: DOID:13830 alt_id: DOID:2840 alt_id: DOID:5783 def: "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing." [url:http\://www.nhlbi.nih.gov/health/dci/Diseases/Asthma/Asthma_WhatIs.html, url:https\://www.ncbi.nlm.nih.gov/books/NBK430901/, url:https\://www.ncbi.nlm.nih.gov/books/NBK7223/] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "bronchial hyperreactivity" EXACT [] synonym: "chronic obstructive asthma" EXACT [] synonym: "chronic obstructive asthma with acute exacerbation" EXACT [] synonym: "chronic obstructive asthma with status asthmaticus" EXACT [] xref: GARD:10246 xref: ICD10CM:J45 xref: ICD9CM:493 xref: KEGG:05310 xref: MESH:D001249 xref: MIM:600807 xref: NCI:C28397 xref: SNOMEDCT_US_2023_03_01:187687003 xref: UMLS_CUI:C0004096 is_a: DOID:1176 ! bronchial disease property_value: exactMatch "MESH:D001249" xsd:string [Term] id: DOID:2842 name: Jervell-Lange Nielsen syndrome comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Jervell and Lange-Nielson syndrome" EXACT [] xref: GARD:3048 xref: MESH:D029593 xref: MIM:220400 xref: MIM:612347 xref: NCI:C84793 xref: SNOMEDCT_US_2023_03_01:49518001 xref: UMLS_CUI:C0022387 is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:2843 name: long QT syndrome alt_id: DOID:4069 def: "An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles)." [url:http\://en.wikipedia.org/wiki/Long_QT_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "long Q-T syndrome" EXACT [] synonym: "LQT" EXACT OMO:0003012 [] synonym: "Romano-Ward syndrome" NARROW [] xref: GARD:6922 xref: ICD10CM:I45.81 xref: ICD9CM:426.82 xref: MESH:D008133 xref: MIM:PS192500 xref: NCI:C34786 xref: ORDO:768 xref: SNOMEDCT_US_2023_03_01:9651007 xref: UMLS_CUI:C0023976 is_a: DOID:0060036 ! intrinsic cardiomyopathy property_value: narrowMatch "ORDO:101016" xsd:string [Term] id: DOID:2846 name: bruxism alt_id: DOID:8891 def: "A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping." [url:http\://en.wikipedia.org/wiki/Bruxism] subset: NCIthesaurus synonym: "Bruxism - teeth grinding" EXACT [] synonym: "Grinding teeth" EXACT [] synonym: "sleep related bruxism" EXACT [] synonym: "Teeth grinding" EXACT [] xref: ICD10CM:F45.8 xref: ICD10CM:G47.63 xref: ICD9CM:327.53 xref: MESH:D002012 xref: MESH:D020186 xref: NCI:C73511 xref: SNOMEDCT_US_2023_03_01:274950005 xref: SNOMEDCT_US_2023_03_01:90207007 xref: UMLS_CUI:C0006325 xref: UMLS_CUI:C0393774 is_a: DOID:535 ! sleep disorder [Term] id: DOID:2848 name: obsolete melancholia is_obsolete: true replaced_by: DOID:1595 [Term] id: DOID:285 name: hairy cell leukemia def: "A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope." [url:https\://en.wikipedia.org/wiki/Hairy_cell_leukemia, url:https\://www.mayoclinic.org/diseases-conditions/hairy-cell-leukemia/symptoms-causes/syc-20372956, url:https\://www.ncbi.nlm.nih.gov/pubmed/30723113] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6560 xref: ICD10CM:C91.4 xref: ICD9CM:202.4 xref: ICDO:9940/3 xref: MESH:D007943 xref: NCI:C7402 xref: SNOMEDCT_US_2023_03_01:118613001 xref: UMLS_CUI:C0023443 is_a: DOID:1040 ! chronic lymphocytic leukemia [Term] id: DOID:2853 name: obsolete atrophy of thyroid synonym: "Hypoplasia of thyroid (disorder)" EXACT [] synonym: "Hypoplasia of thyroid (disorder) [Ambiguous]" EXACT [] synonym: "Thyroid Atrophy" EXACT [] synonym: "Thyroid atrophy (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2855 name: hyperthyroxinemia def: "A thyroid gland disease that is characterized by elevated thyroxine levels in the blood." [url:https\://en.wikipedia.org/wiki/Hyperthyroxinemia] subset: NCIthesaurus xref: MESH:D006981 xref: NCI:C131850 xref: UMLS_CUI:C0020551 is_a: DOID:50 ! thyroid gland disease property_value: exactMatch "MESH:D006981" xsd:string [Term] id: DOID:2856 name: euthyroid sick syndrome subset: NCIthesaurus synonym: "Sick-euthyroid syndrome" EXACT [] xref: ICD10CM:E07.81 xref: ICD9CM:790.94 xref: MESH:D005067 xref: NCI:C113170 xref: SNOMEDCT_US_2023_03_01:237542005 xref: UMLS_CUI:C0015190 is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:2857 name: obsolete abscess of thyroid synonym: "abscess of thyroid (disorder)" EXACT [] synonym: "Thyroid gland abscess" EXACT [] is_obsolete: true [Term] id: DOID:2859 name: hemoglobin C disease subset: DO_rare_slim subset: NCIthesaurus synonym: "Hb-C disease" EXACT [] xref: GARD:2640 xref: ICD10CM:D58.2 xref: MESH:D006445 xref: NCI:C34675 xref: SNOMEDCT_US_2023_03_01:51053007 xref: UMLS_CUI:C0019021 is_a: DOID:2860 ! hemoglobinopathy [Term] id: DOID:2860 name: hemoglobinopathy subset: DO_rare_slim subset: NCIthesaurus synonym: "hemoglobinopathies" EXACT [] xref: GARD:12455 xref: ICD10CM:D58.2 xref: MESH:D006453 xref: NCI:C3092 xref: SNOMEDCT_US_2023_03_01:154794008 xref: UMLS_CUI:C0019045 is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:2861 name: congenital nonspherocytic hemolytic anemia comment: Xref MGI.\nOMIM mapping by NeuroDevNet. [LS]. subset: DO_rare_slim synonym: "congenital nonspherocytic hemolytic anaemia" EXACT [] synonym: "hereditary nonspherocytic hemolytic anaemia" EXACT [] synonym: "hereditary nonspherocytic hemolytic anemia" EXACT [] synonym: "HNSHA" EXACT OMO:0003012 [] xref: MESH:D000746 xref: MIM:206300 xref: MIM:206400 xref: MIM:300908 xref: MIM:613470 xref: ORDO:712 xref: SNOMEDCT_US_2023_03_01:82775009 xref: UMLS_CUI:C0002882 is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:2862 name: glucosephosphate dehydrogenase deficiency def: "A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)." [url:http\://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency] subset: DO_rare_slim subset: NCIthesaurus synonym: "deficiency of G-6PD" EXACT [] synonym: "Glucose-6-phosphate dehydrogenase deficiency" EXACT [] xref: GARD:6520 xref: MESH:D005955 xref: NCI:C98933 xref: SNOMEDCT_US_2023_03_01:124134002 xref: UMLS_CUI:C2939465 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:287 name: obsolete vision disorder synonym: "visual disorder" RELATED [] is_obsolete: true [Term] id: DOID:2870 name: endometrial adenocarcinoma alt_id: DOID:5827 alt_id: DOID:6650 def: "An endometrial carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "adenocarcinoma of endometrium" EXACT [] synonym: "adenocarcinoma of the Endometrium" EXACT [] synonym: "adenocarcinoma of uterus" EXACT [] synonym: "endometrial adenoacanthoma" EXACT [] synonym: "endometrial endometrioid adenocarcinoma" EXACT [] synonym: "endometrial endometrioid adenocarcinoma with squamous differentiation" EXACT [] synonym: "endometrioid adenoma or carcinoma" EXACT [] synonym: "endometrioid adenomas and carcinomas" EXACT [] synonym: "endometrioid carcinoma of Endometrium" EXACT [] xref: NCI:C6287 xref: NCI:C6290 xref: NCI:C7359 xref: SNOMEDCT_US_2023_03_01:123845008 xref: SNOMEDCT_US_2023_03_01:1260086007 xref: UMLS_CUI:C0279763 xref: UMLS_CUI:C1153706 xref: UMLS_CUI:C1336905 is_a: DOID:2871 ! endometrial carcinoma is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:2871 name: endometrial carcinoma alt_id: DOID:3000 def: "A endometrial cancer that is located_in the tissue lining the uterus." [url:http\://www.cancer.gov/cancertopics/types/endometrial] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: NCIthesaurus synonym: "carcinoma of the Endometrium" EXACT [] synonym: "endometrioid carcinoma" EXACT [] synonym: "endometrioid carcinoma of female Reproductive system" EXACT [] xref: MESH:D016889 xref: MESH:D018269 xref: NCI:C7558 xref: SNOMEDCT_US_2023_03_01:30289006 xref: SNOMEDCT_US_2023_03_01:93781006 xref: UMLS_CUI:C0206687 xref: UMLS_CUI:C0476089 is_a: DOID:1380 ! endometrial cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:2873 name: obsolete metastatic tumor to the larynx is_obsolete: true [Term] id: DOID:2874 name: obsolete metastasis to the neck synonym: "metastatic tumor to the neck" EXACT [] is_obsolete: true [Term] id: DOID:2876 name: laryngeal squamous cell carcinoma def: "A laryngeal carcinoma that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Epidermoid carcinoma of the Larynx" EXACT [] synonym: "squamous cell carcinoma of larynx" EXACT [] xref: MESH:D000077195 xref: NCI:C4044 xref: SNOMEDCT_US_2023_03_01:707358000 xref: UMLS_CUI:C0280324 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:2600 ! laryngeal carcinoma [Term] id: DOID:2877 name: larynx sarcoma def: "A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm." [url:https\://www.sciencedirect.com/science/article/pii/S1726490109701893] subset: NCIthesaurus synonym: "sarcoma of larynx" EXACT [] xref: NCI:C6020 xref: UMLS_CUI:C1334377 is_a: DOID:1115 ! sarcoma is_a: DOID:2596 ! larynx cancer [Term] id: DOID:2878 name: obsolete throat carcinoma is_obsolete: true [Term] id: DOID:2879 name: nodular degeneration of cornea xref: ICD10CM:H18.45 xref: ICD9CM:371.46 xref: SNOMEDCT_US_2023_03_01:72620002 xref: UMLS_CUI:C0155122 is_a: DOID:1237 ! corneal degeneration [Term] id: DOID:288 name: endometriosis of uterus def: "A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium." [url:https\://en.wikipedia.org/wiki/Endometriosis] comment: OMIM mapping confirmed by DO. [SN]. synonym: "adenomyosis" EXACT [] synonym: "Endometriosis interna" EXACT [] synonym: "Endometriosis of myometrium" EXACT [] synonym: "Endometriosis, myometrium" EXACT [] synonym: "uterine Adenomyosis" EXACT [] xref: ICD10CM:N80.0 xref: ICD9CM:617.0 xref: MIM:600458 xref: SNOMEDCT_US_2023_03_01:76376003 xref: UMLS_CUI:C0341858 is_a: DOID:289 ! endometriosis is_a: DOID:345 ! uterine disease [Term] id: DOID:2880 name: obsolete Hantavirus infectious disease def: "A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema." [url:http\://en.wikipedia.org/wiki/Hantavirus_pulmonary_syndrome#Hantavirus_.28cardio-.29pulmonary_syndrome] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:2882 name: obsolete Cysts of iris, ciliary body and anterior chamber synonym: "Cysts of iris, ciliary body and anterior chamber (disorder)" EXACT [] synonym: "Cysts of iris, ciliary body and anterior chamber NOS (disorder)" EXACT [] synonym: "Cysts of iris, ciliary body, and anterior chamber" EXACT [] is_obsolete: true [Term] id: DOID:2883 name: prostatic adenoma def: "A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate." [url:https\://pubmed.ncbi.nlm.nih.gov/33102081/, url:https\://www.ncbi.nlm.nih.gov/pubmed/24649766] subset: NCIthesaurus synonym: "adenoma - prostate" EXACT [] synonym: "adenoma of prostate" EXACT [] synonym: "benign adenoma of prostate" EXACT [] synonym: "prostate adenoma" EXACT [] xref: MESH:D011470 xref: NCI:C4795 xref: SNOMEDCT_US_2023_03_01:21173002 xref: UMLS_CUI:C0520477 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:47 ! prostate disease [Term] id: DOID:2885 name: benign prostate phyllodes tumor alt_id: DOID:2886 subset: NCIthesaurus synonym: "benign Phyllodes neoplasm of the prostate" EXACT [] synonym: "benign prostate phyllodes tumour" EXACT [] synonym: "Phyllodes neoplasm of the prostate" EXACT [] synonym: "prostate phyllodes tumor" EXACT [] synonym: "prostate phyllodes tumour" EXACT [] xref: NCI:C5532 xref: NCI:C7574 xref: UMLS_CUI:C1332535 xref: UMLS_CUI:C1335409 is_a: DOID:0060087 ! male reproductive organ benign neoplasm [Term] id: DOID:2887 name: prostate leiomyoma def: "A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037125/] subset: NCIthesaurus synonym: "Prostatic leiomyoma" EXACT [] xref: NCI:C5544 xref: UMLS_CUI:C1335510 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:127 ! leiomyoma is_a: DOID:47 ! prostate disease [Term] id: DOID:2889 name: retrocochlear disease xref: MESH:D012181 xref: UMLS_CUI:C0035352 is_a: DOID:2742 ! auditory system disease [Term] id: DOID:289 name: endometriosis def: "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body." [url:https\://en.wikipedia.org/?title=Endometriosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/20574791] subset: NCIthesaurus xref: EFO:0001065 xref: ICD10CM:N80 xref: ICD9CM:617 xref: MESH:D004715 xref: NCI:C3014 xref: SNOMEDCT_US_2023_03_01:11871002 xref: UMLS_CUI:C0014175 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:2890 name: obsolete primary Klebsiella infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:2891 name: thyroid adenoma def: "An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells." [url:https\://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/thyroid-adenoma] subset: NCIthesaurus synonym: "adenoma of thyroid gland" EXACT [] xref: MESH:D013964 xref: NCI:C3502 xref: SNOMEDCT_US_2023_03_01:189174004 xref: UMLS_CUI:C0151468 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:50 ! thyroid gland disease is_a: DOID:657 ! adenoma [Term] id: DOID:2892 name: exocervical carcinoma def: "A cervix carcinoma that is located_in the exocervix." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14675699] subset: NCIthesaurus synonym: "carcinoma of exocervix" EXACT [] synonym: "carcinoma of the Exocervix" EXACT [] xref: NCI:C7453 xref: SNOMEDCT_US_2023_03_01:372100004 xref: UMLS_CUI:C1299238 is_a: DOID:2893 ! cervix carcinoma [Term] id: DOID:2893 name: cervix carcinoma def: "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Cervical_cancer] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: NCIthesaurus synonym: "cancer of cervix" EXACT [] synonym: "carcinoma cervix uteri" EXACT [] synonym: "carcinoma of cervix" EXACT [] synonym: "carcinoma of the Cervix Uteri" EXACT [] xref: NCI:C9039 xref: SNOMEDCT_US_2023_03_01:285432005 xref: UMLS_CUI:C0302592 is_a: DOID:305 ! carcinoma is_a: DOID:4362 ! cervical cancer [Term] id: DOID:2898 name: obsolete commensal streptococcal infectious disease subset: gram-positive_bacterial_infectious_disease synonym: "Streptococcal infection, unspecified (disorder)" EXACT [] synonym: "Streptococcal infectious disease (disorder)" EXACT [] synonym: "Streptococcus infection" EXACT [] is_obsolete: true [Term] id: DOID:2905 name: obsolete commensal Escherichia coli infectious disease subset: gram-negative_bacterial_infectious_disease synonym: "E Coli Infection" EXACT [] synonym: "Escherichia coli infection" EXACT [] synonym: "Infection due to Escherichia coli (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2906 name: obsolete Rhabditida infectious disease def: "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips." [url:http\://en.wikipedia.org/wiki/Rhabditida] is_obsolete: true [Term] id: DOID:2907 name: Goldenhar syndrome def: "A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch." [url:http\://en.wikipedia.org/wiki/Goldenhar_syndrome, url:http\://www.healthline.com/galecontent/goldenhar-syndrome, url:https\://www.faces-cranio.org/goldenhar] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Facio-auriculo-vertebral spectrum" EXACT [] synonym: "First AND second branchial arch syndrome" EXACT [] synonym: "First arch syndrome" EXACT [] synonym: "HEMIFACIAL MICROSOMIA" EXACT [] synonym: "OAV (oculoauriculovertebral) dysplasia" EXACT [] synonym: "Otomandibular dysostosis" EXACT [] xref: GARD:6540 xref: ICD10CM:Q87.0 xref: MESH:D006053 xref: MIM:164210 xref: NCI:C84740 xref: ORDO:374 xref: SNOMEDCT_US_2023_03_01:46567003 xref: UMLS_CUI:C0265240 is_a: DOID:225 ! syndrome [Term] id: DOID:2908 name: Treacher Collins syndrome def: "A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1532/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Franceschetti syndrome" EXACT [] synonym: "mandibulofacial dysostosis" EXACT [] xref: GARD:9124 xref: ICD10CM:Q75.4 xref: MESH:D008342 xref: MIM:PS154500 xref: NCI:C75018 xref: SNOMEDCT_US_2023_03_01:205416009 xref: UMLS_CUI:C0242387 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:D008342" xsd:string [Term] id: DOID:2910 name: obsolete septic abortion synonym: "abortion with sepsis" EXACT [] synonym: "Septic abortion (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2913 name: acute pancreatitis alt_id: DOID:2912 def: "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock." [url:https\://www.nhs.uk/conditions/acute-pancreatitis/] subset: NCIthesaurus xref: ICD10CM:K85 xref: ICD9CM:577.0 xref: MESH:D010195 xref: NCI:C95437 xref: SNOMEDCT_US_2023_03_01:39726008 xref: UMLS_CUI:C0001339 is_a: DOID:4989 ! pancreatitis [Term] id: DOID:2914 name: immune system disease def: "A disease of anatomical entity that is located_in the immune system." [url:http\://en.wikipedia.org/wiki/Immune_system] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_FlyBase_slim subset: DO_GXD_slim subset: DO_MGI_slim xref: EFO:0000540 xref: ICD10CM:D89.9 xref: ICD9CM:279.9 xref: SNOMEDCT_US_2023_03_01:154782004 xref: UMLS_CUI:C0041806 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:2916 name: hypersensitivity reaction type IV disease def: "A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response." [url:https\://en.wikipedia.org/wiki/Type_IV_hypersensitivity] synonym: "immunoproliferative disease" RELATED [] xref: ICD10CM:C88.9 xref: MESH:D007160 xref: SNOMEDCT_US_2023_03_01:127071007 xref: UMLS_CUI:C0021070 is_a: DOID:0060056 ! hypersensitivity reaction disease [Term] id: DOID:2917 name: cryoglobulinemia def: "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures." [url:http\://en.wikipedia.org/wiki/Cryoglobulinemia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000540.htm] {comment="ls:IEDB"} subset: DO_rare_slim subset: NCIthesaurus synonym: "Cryoimmunoglobulinaemia" EXACT [] xref: GARD:6217 xref: ICD10CM:D89.1 xref: MESH:D003449 xref: NCI:C26736 xref: SNOMEDCT_US_2023_03_01:30911005 xref: UMLS_CUI:C0010403 is_a: DOID:2916 ! hypersensitivity reaction type IV disease [Term] id: DOID:2918 name: obsolete paraproteinemia def: "A hypersensitivity reaction type IV disease that results from the presence of excessive amounts of a single monoclonal gammaglobulin in the blood." [url:http\://en.wikipedia.org/wiki/Paraproteinemia] synonym: "Paraproteinaemia" EXACT [] synonym: "Paraproteinemia" EXACT [] synonym: "paraproteinemia" EXACT [] synonym: "Paraproteinemia (disorder)" EXACT [] synonym: "Paraproteinemia NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:292 name: lacrimal system cancer subset: NCIthesaurus synonym: "lacrimal system neoplasm" EXACT [] synonym: "neoplasm of lacrimal system" EXACT [] synonym: "tumor of the lacrimal system" EXACT [] xref: NCI:C5102 xref: SNOMEDCT_US_2023_03_01:416510003 xref: UMLS_CUI:C1334361 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:2174 ! ocular cancer [Term] id: DOID:2920 name: membranoproliferative glomerulonephritis subset: DO_rare_slim subset: NCIthesaurus synonym: "chronic glomerulonephritis, lobular" EXACT [] synonym: "Lobular glomerulonephritis" EXACT [] xref: GARD:11982 xref: MESH:D015432 xref: MIM:305800 xref: NCI:C34644 xref: SNOMEDCT_US_2023_03_01:80321008 xref: UMLS_CUI:C0017662 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:2921 name: glomerulonephritis def: "A nephritis that causes inflammation of the glomeruli located_in kidney." [url:http\://en.wikipedia.org/wiki/Glomerulonephritis] {comment="sn:IEDB"} subset: DO_RAD_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6516 xref: ICD10CM:N08 xref: MESH:D005921 xref: NCI:C26784 xref: SNOMEDCT_US_2023_03_01:36171008 xref: UMLS_CUI:C0017658 is_a: DOID:10952 ! nephritis [Term] id: DOID:2926 name: Klippel-Trenaunay syndrome def: "A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues." [url:http\://en.wikipedia.org/wiki/Klippel%E2%80%93Tr%C3%A9naunay_syndrome, url:http\://omim.org/entry/149000] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "angioosteohypertrophy syndrome" EXACT [] synonym: "Haemangiectatic hypertrophy" EXACT [] synonym: "Klippel-Trenaunay-Weber syndrome" EXACT [] xref: ICD10CM:Q87.2 xref: MESH:D007715 xref: MIM:149000 xref: NCI:C84801 xref: ORDO:90308 xref: SNOMEDCT_US_2023_03_01:59078009 xref: UMLS_CUI:C0022739 is_a: DOID:225 ! syndrome [Term] id: DOID:2929 name: Newcastle disease def: "A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Avian orthoavulavirus 1, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds." [url:https\://en.wikipedia.org/wiki/Virulent_Newcastle_disease, url:https\://www.agric.wa.gov.au/livestock-biosecurity/newcastle-disease, url:https\://www.ncbi.nlm.nih.gov/articles/PMC1526237/, url:https\://www.ncbi.nlm.nih.gov/articles/PMC1822603/] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Newcastle's disease" EXACT [] synonym: "Pseudo-fowlpest" EXACT [] xref: MESH:D009521 xref: NCI:C34849 xref: SNOMEDCT_US_2023_03_01:258300000 xref: UMLS_CUI:C0027983 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:293 name: lacrimal gland carcinoma subset: NCIthesaurus synonym: "carcinoma of the lacrimal gland" EXACT [] xref: NCI:C6129 xref: UMLS_CUI:C1334358 is_a: DOID:294 ! lacrimal gland cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:2930 name: obsolete Avulavirus infectious disease def: "A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes." [url:http\://www.expasy.ch/viralzone/all_by_species/84.html] is_obsolete: true [Term] id: DOID:2934 name: aleutian mink disease def: "A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia." [url:http\://en.wikipedia.org/wiki/Aleutian_Disease, url:http\://www.cdc.gov/eid/content/15/12/2040.htm] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease synonym: "Aleutian disease" EXACT [] xref: MESH:D000453 xref: SNOMEDCT_US_2023_03_01:62251004 xref: UMLS_CUI:C0002016 is_a: DOID:934 ! viral infectious disease property_value: exactMatch "MESH:D000453" xsd:string [Term] id: DOID:2935 name: Chediak-Higashi syndrome def: "A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42." [url:http\://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/25129365] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Chediak - Steinbrinck anomaly" EXACT [] synonym: "CHS" EXACT OMO:0003012 [] xref: GARD:6035 xref: ICD10CM:E70.330 xref: MESH:D002609 xref: MIM:214500 xref: NCI:C2941 xref: ORDO:167 xref: SNOMEDCT_US_2023_03_01:111396008 xref: UMLS_CUI:C0007965 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:2936 name: obsolete Parvoviridae infectious disease def: "A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses." [url:http\://en.wikipedia.org/wiki/Parvoviridae] is_obsolete: true [Term] id: DOID:2937 name: obsolete Human herpesvirus 8 infectious disease def: "A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8." [url:http\://www.abcam.com/index.html?pageconfig=resource&rid=11811&pid=11320] is_obsolete: true [Term] id: DOID:2938 name: Epstein-Barr virus infectious disease def: "A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4." [url:https\://en.wikipedia.org/wiki/Epstein%E2%80%93Barr_virus_infection, url:https\://www.cdc.gov/epstein-barr/about-ebv.html, url:https\://www.ncbi.nlm.nih.gov/books/NBK559285/] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "EBV Infection" EXACT [] synonym: "Epstein-Barr virus infection" EXACT [] xref: MESH:D020031 xref: NCI:C38759 xref: SNOMEDCT_US_2023_09_01:240530001 xref: UMLS_CUI:C0149678 is_a: DOID:934 ! viral infectious disease property_value: exactMatch "MESH:D020031" xsd:string property_value: exactMatch "NCI:C38759" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_09_01:240530001" xsd:string property_value: exactMatch "UMLS_CUI:C0149678" xsd:string [Term] id: DOID:2939 name: obsolete Herpesviridae infectious disease def: "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses." [url:http\://en.wikipedia.org/wiki/Herpesviridae] synonym: "Herpesviridae disease" EXACT [] synonym: "Herpesvirus infection (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:294 name: lacrimal gland cancer alt_id: DOID:291 subset: NCIthesaurus synonym: "malignant neoplasm of lacrimal gland" EXACT [] synonym: "malignant tumour of lacrimal gland" EXACT [] synonym: "neoplasm of lacrimal gland" EXACT [] synonym: "tumor of the lacrimal gland" EXACT [] xref: ICD9CM:190.2 xref: NCI:C3563 xref: NCI:C4360 xref: SNOMEDCT_US_2023_03_01:127004000 xref: SNOMEDCT_US_2023_03_01:188271007 xref: UMLS_CUI:C0153627 xref: UMLS_CUI:C0339124 is_a: DOID:292 ! lacrimal system cancer [Term] id: DOID:2942 name: bronchiolitis def: "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen." [url:http\://en.wikipedia.org/wiki/Bronchiolitis] subset: NCIthesaurus xref: MESH:D001988 xref: NCI:C39658 xref: SNOMEDCT_US_2023_03_01:4120002 xref: UMLS_CUI:C0006271 is_a: DOID:1176 ! bronchial disease is_a: DOID:850 ! lung disease [Term] id: DOID:2943 name: obsolete Poxviridae infectious disease def: "A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses." [url:http\://en.wikipedia.org/wiki/Poxviridae] synonym: "disease due to unassigned Poxviridae (disorder)" EXACT [] synonym: "Poxviridae disease" EXACT [] is_obsolete: true [Term] id: DOID:2945 name: severe acute respiratory syndrome def: "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia." [url:http\://en.wikipedia.org/wiki/Severe_acute_respiratory_syndrome, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=SARS] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "SARS" EXACT OMO:0003012 [] synonym: "SARS-CoV infection" EXACT [] xref: GARD:9237 xref: ICD10CM:J12.81 xref: ICD9CM:079.82 xref: MESH:D045169 xref: NCI:C85064 xref: SNOMEDCT_US_2023_03_01:398447004 xref: UMLS_CUI:C1175175 is_a: DOID:0080599 ! Coronavirus infectious disease [Term] id: DOID:2946 name: obsolete coronavirus infectious disease def: "A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." [url:http\://en.wikipedia.org/wiki/Coronavirus] is_obsolete: true [Term] id: DOID:2947 name: obsolete Yellow fever virus infectious disease def: "A Flavivirus infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by mosquito bites. The infection has_symptom fever, has_symptom severe headache, has_symptom back pain, has_symptom muscle ache, has_symptom nausea, and has_symptom weakness." [url:http\://www.cdc.gov/ncidod/dvbid/yellowfever/YF_Symptoms.html] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:2948 name: obsolete Coronaviridae infectious disease def: "A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food." [url:http\://en.wikipedia.org/wiki/Coronaviridae] is_obsolete: true [Term] id: DOID:2949 name: obsolete Nidovirales infectious disease def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses." [url:http\://en.wikipedia.org/wiki/Nidovirales] is_obsolete: true [Term] id: DOID:295 name: eye carcinoma def: "An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye." [url:http\://www.cancer.gov/dictionary/?CdrID=444991] subset: NCIthesaurus synonym: "carcinoma of eye" RELATED [] synonym: "Ocular carcinoma" EXACT [] xref: NCI:C6079 xref: UMLS_CUI:C0848866 is_a: DOID:2174 ! ocular cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:2950 name: obsolete Orbivirus infectious disease def: "A Reoviridae infectious disease that results_in infection in vertebrates, has_material_basis_in Orbivirus, which is transmitted_by mosquitoes, transmitted_by midges, transmitted_by gnats, transmitted_by sandflies, and transmitted_by ticks." [url:http\://en.wikipedia.org/wiki/Orbivirus] is_obsolete: true [Term] id: DOID:2951 name: motion sickness comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Travel Sickness" EXACT [] xref: ICD10CM:T75.3 xref: ICD9CM:994.6 xref: MESH:D009041 xref: MIM:158280 xref: NCI:C34824 xref: SNOMEDCT_US_2023_03_01:37031009 xref: UMLS_CUI:C0026603 is_a: DOID:2952 ! inner ear disease [Term] id: DOID:2952 name: inner ear disease def: "An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium." [url:https\://www.merckmanuals.com/professional/ear\,-nose\,-and-throat-disorders/inner-ear-disorders/introduction-to-inner-ear-disorders] subset: NCIthesaurus synonym: "labyrinthine disease" EXACT [] xref: ICD10CM:H83.9 xref: MESH:D007759 xref: NCI:C128369 xref: NCI:C27166 xref: SNOMEDCT_US_2023_03_01:194690003 xref: SNOMEDCT_US_2023_03_01:20425006 xref: UMLS_CUI:C0022890 xref: UMLS_CUI:C0494559 is_a: DOID:2742 ! auditory system disease [Term] id: DOID:2956 name: obsolete intra-abdominal lymphangioma is_obsolete: true [Term] id: DOID:2957 name: pulmonary tuberculosis def: "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis." [url:http\://www.cdc.gov/tb/publications/factsheets/general/tb.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tuberculosis] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus xref: ICD10CM:A15 xref: ICD9CM:011 xref: MESH:D014397 xref: NCI:C26899 xref: SNOMEDCT_US_2023_03_01:81483001 xref: UMLS_CUI:C0041327 is_a: DOID:399 ! tuberculosis is_a: DOID:850 ! lung disease [Term] id: DOID:2958 name: obsolete environmental illness is_obsolete: true [Term] id: DOID:2959 name: hyperimmunoglobulin syndrome def: "A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others." [url:https\://ncithesaurus-stage.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27579] subset: NCIthesaurus xref: NCI:C27579 xref: UMLS_CUI:C1334069 is_a: DOID:2115 ! B cell deficiency [Term] id: DOID:296 name: mixed lacrimal gland cancer subset: NCIthesaurus synonym: "carcinoma ex pleomorphic adenoma of lacrimal gland" EXACT [] synonym: "carcinoma Ex Pleomorphic adenoma of the lacrimal gland" EXACT [] synonym: "malignant mixed neoplasm of lacrimal gland" EXACT [] xref: NCI:C6804 xref: SNOMEDCT_US_2023_03_01:254989000 xref: UMLS_CUI:C0346342 is_a: DOID:294 ! lacrimal gland cancer [Term] id: DOID:2960 name: photosensitive trichothiodystrophy def: "A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight." [url:https\://ghr.nlm.nih.gov/condition/trichothiodystrophy, url:https\://pubmed.ncbi.nlm.nih.gov/18603627/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "IBIDS syndrome" EXACT [] synonym: "sulfur-deficient brittle hair syndrome" EXACT [] synonym: "Tay syndrome" EXACT [] synonym: "trichothiodystrophy with congenital ichthyosis" EXACT [] synonym: "TTD-P" EXACT OMO:0003012 [] xref: MESH:D054463 xref: NCI:C4924 xref: SNOMEDCT_US_2021_09_01:723551003 is_a: DOID:0111866 ! trichothiodystrophy [Term] id: DOID:2961 name: obsolete DNA repair deficiency def: "A monogenic disease that results from a reduced functionality of DNA repair." [url:http\://en.wikipedia.org/wiki/DNA_repair-deficiency_disorder] synonym: "deficiency of DNA repair (finding)" EXACT [] synonym: "DNA Repair disorder" EXACT [] is_obsolete: true [Term] id: DOID:2962 name: Cockayne syndrome def: "A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development." [url:http\://en.wikipedia.org/wiki/Cockayne_syndrome, url:https\://medlineplus.gov/genetics/condition/cockayne-syndrome/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1342/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Cockayne's syndrome" RELATED [] synonym: "Neill-Dingwall syndrome" EXACT [] xref: GARD:6122 xref: ICD10CM:Q87.19 xref: MESH:D003057 xref: NCI:C9460 xref: ORDO:191 xref: SNOMEDCT_US_2023_03_01:205832003 xref: UMLS_CUI:C0009207 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:D003057" xsd:string [Term] id: DOID:2964 name: periarthritis xref: ICD10CM:M77.9 xref: MESH:D010489 xref: SNOMEDCT_US_2023_03_01:50921008 xref: UMLS_CUI:C0031037 is_a: DOID:2965 ! bursitis [Term] id: DOID:2965 name: bursitis subset: NCIthesaurus xref: ICD10CM:M71.9 xref: MESH:D002062 xref: NCI:C94407 xref: SNOMEDCT_US_2023_03_01:156677003 xref: UMLS_CUI:C0006444 is_a: DOID:381 ! arthropathy [Term] id: DOID:297 name: pleomorphic adenoma carcinoma subset: NCIthesaurus synonym: "carcinoma ex pleomorphic adenoma" EXACT [] synonym: "carcinoma in pleomorphic adenoma" EXACT [] xref: NCI:C4397 xref: SNOMEDCT_US_2023_03_01:17264009 xref: UMLS_CUI:C0344460 is_a: DOID:8850 ! salivary gland cancer [Term] id: DOID:2972 name: renal artery obstruction xref: ICD10CM:N28.0 xref: MESH:D012078 xref: UMLS_CUI:C0035066 is_a: DOID:2388 ! renal artery disease [Term] id: DOID:2973 name: kidney cortex necrosis def: "A kidney cortex disease that is characterized by death of the tissue in the outer part of the kidney that results from blockage of the small arteries that supply blood to the cortex and that causes acute kidney injury." [url:https\://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/blood-vessel-disorders-of-the-kidneys/cortical-necrosis-of-the-kidneys] synonym: "renal cortical necrosis" EXACT [] xref: ICD10CM:N17.1 xref: MESH:D007673 xref: SNOMEDCT_US_2023_03_01:444691002 xref: UMLS_CUI:C0022656 is_a: DOID:0080616 ! kidney cortex disease [Term] id: DOID:2974 name: obsolete multicystic dysplastic kidney synonym: "Multicystic dysplastic kidney" EXACT [] synonym: "Multicystic kidney" EXACT [] synonym: "Multicystic kidney (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2975 name: cystic kidney disease synonym: "renal Cyst" EXACT [] xref: MESH:D052177 xref: UMLS_CUI:C0022679 is_a: DOID:557 ! kidney disease [Term] id: DOID:2976 name: obsolete glomerular vascular disorder is_obsolete: true [Term] id: DOID:2977 name: primary hyperoxaluria alt_id: DOID:2979 def: "A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones." [url:https\://ghr.nlm.nih.gov/condition/primary-hyperoxaluria, url:https\://www.ncbi.nlm.nih.gov/pubmed/27815184] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: ICD10CM:E72.53 xref: ICD10CM:R82.992 xref: MESH:D006959 xref: MESH:D006960 xref: MIM:PS259900 xref: NCI:C123158 xref: ORDO:416 xref: SNOMEDCT_US_2023_03_01:190766003 xref: SNOMEDCT_US_2023_03_01:367621000119107 xref: UMLS_CUI:C0020500 xref: UMLS_CUI:C0020501 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:2978 name: carbohydrate metabolic disorder alt_id: DOID:9434 def: "An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates." [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_carbohydrate_metabolism] subset: DO_CFDE_slim subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "disorder of carbohydrate transport and metabolism" EXACT [] synonym: "inborn carbohydrate metabolism disorder" EXACT [] synonym: "inborn errors of carbohydrate metabolism" EXACT [] xref: MESH:D002239 xref: NCI:C97089 xref: ORDO:79161 xref: UMLS_CUI:C0007001 xref: UMLS_CUI:C0149670 is_a: DOID:655 ! inherited metabolic disorder property_value: exactMatch "MESH:D002239" xsd:string property_value: exactMatch "NCI:C97089" xsd:string property_value: exactMatch "ORDO:79161" xsd:string property_value: exactMatch "UMLS_CUI:C0007001" xsd:string property_value: exactMatch "UMLS_CUI:C0149670" xsd:string [Term] id: DOID:298 name: lacrimal gland adenocarcinoma def: "A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of lacrimal gland" RELATED [] xref: NCI:C4541 xref: SNOMEDCT_US_2023_03_01:254988008 xref: UMLS_CUI:C0346341 is_a: DOID:293 ! lacrimal gland carcinoma is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:2980 name: obsolete bone marrow tansplantation nephropathy is_obsolete: true [Term] id: DOID:2981 name: kidney papillary necrosis synonym: "Necrotizing renal papillitis" EXACT [] synonym: "Papillary necrosis" EXACT [] synonym: "renal PAPILLITIS NECROTIZING" EXACT [] xref: MESH:D007681 xref: SNOMEDCT_US_2023_03_01:90241004 xref: UMLS_CUI:C0022667 is_a: DOID:557 ! kidney disease [Term] id: DOID:2982 name: perinephritis xref: MESH:D010501 xref: SNOMEDCT_US_2023_03_01:111404004 xref: UMLS_CUI:C0031065 is_a: DOID:557 ! kidney disease [Term] id: DOID:2983 name: anuria subset: NCIthesaurus synonym: "Suppression of urinary secretion" EXACT [] xref: MESH:D001002 xref: NCI:C114699 xref: SNOMEDCT_US_2023_03_01:139460001 xref: UMLS_CUI:C0003460 is_a: DOID:557 ! kidney disease [Term] id: DOID:2985 name: obsolete chronic rejection of renal transplant synonym: "CAN" EXACT [] synonym: "chronic rejection of renal transplant (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:2986 name: IgA glomerulonephritis def: "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus." [url:http\://en.wikipedia.org/wiki/IgA_nephropathy, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000466.htm] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Berger's IgA or IgG nephropathy" EXACT [] synonym: "Focal Glomerulonephritis" EXACT [] synonym: "IgA nephropathy" EXACT [] synonym: "primary IgA nephropathy" EXACT [] synonym: "segmental glomerulonephritis" EXACT [] xref: EFO:0004194 xref: GARD:863 xref: MESH:D005922 xref: MIM:161950 xref: NCI:C34643 xref: SNOMEDCT_US_2023_03_01:236407003 xref: UMLS_CUI:C0017661 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:2987 name: familial Mediterranean fever def: "An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin." [url:http\://en.wikipedia.org/wiki/Familial_Mediterranean_fever, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "benign paroxysmal peritonitis" EXACT [] synonym: "FMF" EXACT OMO:0003012 [] xref: GARD:6421 xref: ICD10CM:M04.1 xref: ICD9CM:277.31 xref: MESH:D010505 xref: MIM:134610 xref: MIM:249100 xref: NCI:C84707 xref: ORDO:342 xref: SNOMEDCT_US_2023_03_01:12579009 xref: UMLS_CUI:C0031069 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:417 ! autoimmune disease [Term] id: DOID:2988 name: antiphospholipid syndrome def: "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin)." [url:http\://en.wikipedia.org/wiki/Antiphospholipid_syndrome, url:https\://www.genome.gov/Genetic-Disorders/Antiphospholipid-Syndrome] {comment="ls:IEDB"} comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "antiphospholipid antibody syndrome" EXACT [] synonym: "APS" EXACT OMO:0003012 [] xref: GARD:5824 xref: ICD10CM:D68.61 xref: MESH:D016736 xref: MIM:107320 xref: NCI:C61283 xref: SNOMEDCT_US_2023_03_01:201450008 xref: UMLS_CUI:C0085278 is_a: DOID:0060051 ! autoimmune disease of cardiovascular system property_value: exactMatch "MESH:D016736" xsd:string [Term] id: DOID:2989 name: obsolete Atypical small acinar proliferation of the prostate gland synonym: "Prostatic Atypical small acinar Proliferation" EXACT [] is_obsolete: true [Term] id: DOID:299 name: adenocarcinoma def: "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus xref: ICDO:8140/3 xref: MESH:D000230 xref: NCI:C2852 xref: SNOMEDCT_US_2023_03_01:35917007 xref: UMLS_CUI:C0001418 is_a: DOID:305 ! carcinoma property_value: exactMatch "MESH:D000230" xsd:string [Term] id: DOID:2990 name: obsolete tumor of specialized prostatic stroma is_obsolete: true [Term] id: DOID:2991 name: obsolete stromal neoplasm synonym: "Stromal tumor (morphologic abnormality)" EXACT [] synonym: "stromal tumors" EXACT [] is_obsolete: true [Term] id: DOID:2992 name: prostate neuroendocrine neoplasm subset: NCIthesaurus synonym: "neuroendocrine tumor of the prostate" EXACT [] xref: NCI:C5545 xref: UMLS_CUI:C1335515 is_a: DOID:10283 ! prostate cancer is_a: DOID:169 ! neuroendocrine tumor [Term] id: DOID:2994 name: germ cell cancer alt_id: DOID:2157 def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells." [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor] subset: DO_RAD_slim subset: NCIthesaurus synonym: "germ cell neoplasm" RELATED [] synonym: "germ cell tumour" RELATED [] synonym: "malignant tumor of the germ cell" EXACT [] xref: MESH:D009373 xref: NCI:C3708 xref: SNOMEDCT_US_2023_03_01:302853003 xref: UMLS_CUI:C0205851 is_a: DOID:0050687 ! cell type cancer [Term] id: DOID:2995 name: obsolete ovarian mixed germ cell-sex cord neoplasm synonym: "Ovarian mixed germ cell-Sex Cord tumor" EXACT [] is_obsolete: true [Term] id: DOID:2996 name: mixed germ cell-sex cord neoplasm subset: NCIthesaurus synonym: "mixed germ cell-Sex Cord tumor" EXACT [] synonym: "mixed germ cell-sex cord-stromal tumor" EXACT [] xref: NCI:C5241 xref: SNOMEDCT_US_2023_03_01:703601005 xref: UMLS_CUI:C1321220 is_a: DOID:154 ! mixed cell type cancer [Term] id: DOID:2997 name: Sertoli-Leydig cell tumor alt_id: DOID:0050618 def: "A sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles." [url:https\://en.wikipedia.org/wiki/Sertoli–Leydig_cell_tumour] subset: DO_cancer_slim subset: DO_rare_slim xref: GARD:9967 xref: MESH:D018310 xref: SNOMEDCT_US_2023_03_01:34110004 xref: UMLS_CUI:C0206723 is_a: DOID:192 ! sex cord-gonadal stromal tumor [Term] id: DOID:2998 name: testicular cancer alt_id: DOID:12231 alt_id: DOID:5554 def: "A male reproductive system cancer that is located_in the testicles." [url:http\://www.cancer.gov/dictionary?CdrID=445090] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "childhood neoplasm of the testis" EXACT [] synonym: "neoplasm of testis" EXACT [] synonym: "pediatric testicular neoplasm" EXACT [] synonym: "testicular tumor" EXACT [] synonym: "testis cancer" EXACT [] synonym: "testis neoplasm" EXACT [] xref: GARD:7746 xref: ICD10CM:C62 xref: ICD9CM:186 xref: MESH:D013736 xref: NCI:C3404 xref: NCI:C5053 xref: NCI:C7251 xref: SNOMEDCT_US_2023_03_01:126900000 xref: SNOMEDCT_US_2023_03_01:94087009 xref: UMLS_CUI:C0039590 xref: UMLS_CUI:C0153594 xref: UMLS_CUI:C1333010 is_a: DOID:2519 ! testicular disease is_a: DOID:3856 ! male reproductive organ cancer [Term] id: DOID:2999 name: granulosa cell tumor alt_id: DOID:5333 def: "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma." [url:https\://en.wikipedia.org/wiki/Granulosa_cell_tumour] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Granulosa cell neoplasm" EXACT [] synonym: "Granulosa cell tumor, adult type" EXACT [] synonym: "Granulosa cell tumour, sarcomatoid" EXACT [] synonym: "malignant granulosa cell neoplasm" EXACT [] xref: MESH:D006106 xref: NCI:C3070 xref: NCI:C4205 xref: SNOMEDCT_US_2023_03_01:18861007 xref: SNOMEDCT_US_2023_03_01:46585005 xref: UMLS_CUI:C0018206 xref: UMLS_CUI:C0334401 is_a: DOID:192 ! sex cord-gonadal stromal tumor [Term] id: DOID:3 name: obsolete disease by environmental exposure alt_id: DOID:2711 def: "A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=environment] synonym: "environmentally induced disease" EXACT [] is_obsolete: true [Term] id: DOID:3001 name: female reproductive endometrioid cancer def: "A female reproductive organ cancer that is characterized by a resemblance to endometrium." [url:https\://en.wikipedia.org/wiki/Endometrioid_tumor] subset: NCIthesaurus synonym: "endometrioid neoplasm" EXACT [] synonym: "endometrioid tumor" EXACT [] synonym: "female reproductive endometrioid neoplasm" RELATED [] xref: NCI:C7113 xref: SNOMEDCT_US_2023_03_01:253013001 xref: UMLS_CUI:C0474809 is_a: DOID:120 ! female reproductive organ cancer [Term] id: DOID:3002 name: ovary neuroendocrine neoplasm def: "An ovarian cancer that has_material_basis_in nuroendocrine cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26976990] subset: NCIthesaurus synonym: "neuroendocrine tumor of Ovary" EXACT [] xref: NCI:C5237 xref: UMLS_CUI:C1335172 is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:2394 ! ovarian cancer [Term] id: DOID:3003 name: nipple benign neoplasm def: "A breast benign neoplasm that is located_in the nipple." [url:https\://en.wikipedia.org/wiki/Nipple_adenoma] subset: NCIthesaurus synonym: "tumor of Nipple" EXACT [] xref: NCI:C5212 xref: UMLS_CUI:C1112166 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:3004 name: breast myoepithelial neoplasm def: "A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439666/] subset: NCIthesaurus xref: NCI:C40389 xref: UMLS_CUI:C1511319 is_a: DOID:1612 ! breast cancer [Term] id: DOID:3007 name: breast ductal carcinoma def: "A breast carcinoma that derives_from the lining of milk ducts." [url:http\://cancergenome.nih.gov/cancersselected/breastductal, url:http\://www.cancer.gov/dictionary?CdrID=45085] subset: DO_cancer_slim synonym: "duct carcinoma" EXACT [] xref: MESH:D044584 xref: SNOMEDCT_US_2023_03_01:82711006 xref: UMLS_CUI:C1176475 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:3008 name: invasive ductal carcinoma alt_id: DOID:3005 def: "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated." [url:https\://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/25343550] subset: NCIthesaurus synonym: "ductal adenocarcinoma" EXACT [] synonym: "Infiltrating ductal carcinoma of breast" EXACT [] synonym: "Invasive ductal carcinoma, NST" EXACT [] xref: MESH:D018270 xref: NCI:C4017 xref: NCI:C4194 xref: SNOMEDCT_US_2023_03_01:408643008 xref: UMLS_CUI:C1134719 xref: UMLS_CUI:C1527349 is_a: DOID:3007 ! breast ductal carcinoma [Term] id: DOID:3009 name: breast neuroendocrine neoplasm def: "A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/neuroendocrine-tumor] subset: NCIthesaurus synonym: "neuroendocrine tumor of the breast" EXACT [] xref: NCI:C5169 xref: UMLS_CUI:C1332635 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:3010 name: lobular neoplasia def: "A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/lobular-neoplasia] subset: NCIthesaurus synonym: "lobular carcinoma in situ" EXACT [] synonym: "Lobular Intraepithelial Neoplasia" EXACT [] xref: NCI:C27939 xref: UMLS_CUI:C0861352 is_a: DOID:8791 ! breast carcinoma in situ [Term] id: DOID:3011 name: breast granular cell tumor def: "A breast cancer that is believed to arises_from Schwann cells." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/granular-cell-tumor] subset: NCIthesaurus xref: NCI:C40400 xref: UMLS_CUI:C1511312 is_a: DOID:1612 ! breast cancer [Term] id: DOID:3012 name: Li-Fraumeni syndrome def: "A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata." [url:http\://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome, url:http\://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome, url:https\://www.lfsassociation.org/what-is-lfs/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "LFS" EXACT OMO:0003012 [] synonym: "Li-Fraumeni Familiar cancer Susceptibility syndrome" EXACT [] synonym: "sarcoma, breast, leukaemia and adrenal gland syndrome" EXACT [] synonym: "SBLA syndrome" EXACT [] xref: GARD:6902 xref: MESH:D016864 xref: MIM:PS151623 xref: NCI:C3476 xref: ORDO:524 xref: SNOMEDCT_US_2023_03_01:428850001 xref: UMLS_CUI:C0085390 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:3013 name: intraductal breast benign neoplasm def: "A breast benign neoplasm that is located_in the breast ducts." [url:https\://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/23025963] subset: NCIthesaurus xref: NCI:C36083 xref: UMLS_CUI:C0948967 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:3015 name: obsolete breast papillary neoplasm synonym: "Papillary tumor of breast" EXACT [] is_obsolete: true [Term] id: DOID:3016 name: breast malignant phyllodes tumor alt_id: DOID:1632 alt_id: DOID:3018 def: "A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s)." [url:https\://www.sciencedirect.com/science/article/pii/S2214330016300256] subset: NCIthesaurus synonym: "breast malignant phyllodes tumour" EXACT [] synonym: "malignant cystosarcoma phyllodes" EXACT [] synonym: "malignant Mammary Phyllodes tumor" EXACT [] synonym: "malignant Mammary Phyllodes tumour" EXACT [] synonym: "malignant Phyllodes neoplasm" EXACT [] synonym: "malignant phyllodes tumor" EXACT [] synonym: "malignant phyllodes tumor of breast" EXACT [] synonym: "malignant phyllodes tumour" EXACT [] synonym: "malignant phyllodes tumour of breast" EXACT [] synonym: "Phyllodes breast neoplasm" EXACT [] synonym: "phyllodes breast tumor" EXACT [] synonym: "phyllodes breast tumour" EXACT [] synonym: "Phyllodes tumor, malignant" EXACT [] xref: MESH:D003557 xref: NCI:C4275 xref: NCI:C4504 xref: NCI:C7575 xref: SNOMEDCT_US_2023_03_01:254844000 xref: SNOMEDCT_US_2023_03_01:712989008 xref: SNOMEDCT_US_2023_03_01:87913009 xref: UMLS_CUI:C0238031 xref: UMLS_CUI:C0346154 xref: UMLS_CUI:C0600066 is_a: DOID:1612 ! breast cancer [Term] id: DOID:3017 name: breast sarcoma def: "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells." [url:http\://en.wikipedia.org/wiki/Sarcoma] subset: NCIthesaurus synonym: "sarcoma of breast" EXACT [] xref: NCI:C4670 xref: SNOMEDCT_US_2023_03_01:278050001 xref: UMLS_CUI:C0349667 is_a: DOID:1612 ! breast cancer [Term] id: DOID:3019 name: obsolete postpartum acute renal failure is_obsolete: true [Term] id: DOID:302 name: substance abuse def: "A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning." [url:http\://allpsych.com/disorders/substance/substanceabuse.html, url:http\://en.wikipedia.org/wiki/Substance_abuse] subset: NCIthesaurus xref: MESH:D019966 xref: NCI:C16522 xref: SNOMEDCT_US_2023_03_01:26416006 xref: UMLS_CUI:C0013146 is_a: DOID:303 ! substance-related disorder [Term] id: DOID:3020 name: obsolete Complication of labor and/or delivery is_obsolete: true [Term] id: DOID:3021 name: acute kidney failure xref: MESH:D058186 is_a: DOID:1074 ! kidney failure [Term] id: DOID:3022 name: obsolete complication of the puerperium is_obsolete: true [Term] id: DOID:3024 name: prostatic acinar adenocarcinoma subset: NCIthesaurus xref: NCI:C5596 xref: UMLS_CUI:C1332139 is_a: DOID:2526 ! prostate adenocarcinoma [Term] id: DOID:3025 name: acinar cell carcinoma def: "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells." [url:https\://pubmed.ncbi.nlm.nih.gov/15215543/] subset: DO_rare_slim subset: NCIthesaurus synonym: "acinic cell carcinoma" EXACT [] xref: GARD:8568 xref: ICDO:8550/3 xref: MESH:D018267 xref: NCI:C3768 xref: SNOMEDCT_US_2023_03_01:45410002 xref: UMLS_CUI:C0206685 is_a: DOID:305 ! carcinoma [Term] id: DOID:3026 name: obsolete metastatic prostatic adenocarcinoma is_obsolete: true [Term] id: DOID:3027 name: obsolete metastatic adenocarcinoma synonym: "adenocarcinoma, metastatic (morphologic abnormality)" EXACT [] synonym: "adenocarcinoma, metastatic, NOS (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:3028 name: obsolete intramucosal adenocarcinoma colon adenoma synonym: "adenoma of colon with intramucosal adenocarcinoma" RELATED [] synonym: "Colonic adenoma with Intramucosal adenocarcinoma" EXACT [] is_obsolete: true [Term] id: DOID:3029 name: colon mucinous adenocarcinoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Colonic mucinous adenocarcinoma" EXACT [] xref: NCI:C7966 xref: UMLS_CUI:C0279639 is_a: DOID:234 ! colon adenocarcinoma is_a: DOID:3030 ! mucinous adenocarcinoma [Term] id: DOID:303 name: substance-related disorder def: "A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning." [url:https\://www.psychologytoday.com/us/conditions/substance-related-disorders] subset: DO_RAD_slim subset: NCIthesaurus xref: MESH:D019966 xref: NCI:C92203 xref: UMLS_CUI:C0236969 is_a: DOID:150 ! disease of mental health [Term] id: DOID:3030 name: mucinous adenocarcinoma alt_id: DOID:4532 def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin." [url:http\://coloncancer.about.com/od/typesofcancer/a/Mucinous_Tumor.htm, url:http\://medical-dictionary.thefreedictionary.com/mucinous+carcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "mucin-producing adenocarcinoma" EXACT [] synonym: "Mucin-Secreting adenocarcinoma" EXACT [] synonym: "Mucin-Secreting carcinoma" EXACT [] synonym: "Mucous carcinoma" EXACT [] synonym: "Pseudomyxoma peritonei with unknown primary site" EXACT [] xref: ICDO:8480/3 xref: MESH:D002288 xref: NCI:C26712 xref: NCI:C27379 xref: SNOMEDCT_US_2023_03_01:72495009 xref: SNOMEDCT_US_2023_03_01:900006 xref: UMLS_CUI:C0007130 xref: UMLS_CUI:C0334368 is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:3033 name: colon signet ring adenocarcinoma subset: DO_cancer_slim synonym: "Colonic Signet Ring adenocarcinoma" EXACT [] is_a: DOID:234 ! colon adenocarcinoma [Term] id: DOID:3038 name: submucosal invasive colon adenocarcinoma subset: NCIthesaurus xref: NCI:C38760 xref: UMLS_CUI:C1515024 is_a: DOID:234 ! colon adenocarcinoma [Term] id: DOID:3039 name: cecum adenocarcinoma def: "A cecum carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Cecal adenocarcinoma" EXACT [] xref: NCI:C5543 xref: SNOMEDCT_US_2023_03_01:413446001 xref: UMLS_CUI:C1332866 is_a: DOID:1519 ! cecum carcinoma is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:3042 name: allergic contact dermatitis def: "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." [url:http\://en.wikipedia.org/wiki/Allergic_contact_dermatitis] {comment="ls:IEDB"} subset: NCIthesaurus xref: ICD10CM:L23 xref: MESH:D017449 xref: NCI:C26998 xref: SNOMEDCT_US_2023_03_01:200841005 xref: UMLS_CUI:C0162820 is_a: DOID:1205 ! allergic disease is_a: DOID:2773 ! contact dermatitis [Term] id: DOID:3044 name: food allergy def: "A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system." [url:http\://www.niaid.nih.gov/topics/foodAllergy/understanding/Pages/whatIsIt.aspx] subset: DO_IEDB_slim subset: NCIthesaurus synonym: "food hypersensitivity" EXACT [] xref: MESH:D005512 xref: NCI:C172304 xref: SNOMEDCT_US_2023_03_01:213018006 xref: UMLS_CUI:C0016470 is_a: DOID:0060502 ! gastrointestinal allergy [Term] id: DOID:3047 name: Wissler-Fanconi syndrome def: "A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease." [url:http\://en.wikipedia.org/wiki/Wissler%27s_syndrome, url:https\://www.ncbi.nlm.nih.gov/articles/PMC5098720/, url:https\://www.ncbi.nlm.nih.gov/pubmed/8150635] subset: gram-positive_bacterial_infectious_disease synonym: "Wissler's subsepsis allergica" EXACT [] synonym: "Wissler's syndrome" EXACT [] xref: MESH:D014924 xref: SNOMEDCT_US_2023_03_01:68190001 xref: UMLS_CUI:C0043195 is_a: DOID:225 ! syndrome [Term] id: DOID:3049 name: Churg-Strauss syndrome def: "A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding." [url:http\://www.hopkinsvasculitis.org/types-vasculitis/churgstrauss-syndrome-css/, url:http\://www.mayoclinic.com/health/churg-strauss-syndrome/DS00855] subset: NCIthesaurus synonym: "Allergic granulomatosis angiitis" EXACT [] synonym: "Allergic Granulomatous Angiitis" EXACT [] synonym: "Churg-Strauss vasculitis" EXACT [] xref: ICD10CM:M30.1 xref: MESH:D015267 xref: NCI:C34481 xref: SNOMEDCT_US_2023_03_01:82275008 xref: UMLS_CUI:C0008728 is_a: DOID:865 ! vasculitis [Term] id: DOID:305 name: carcinoma alt_id: DOID:2428 alt_id: DOID:6570 def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: DO_cancer_slim subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "epithelial cancer" EXACT [] synonym: "epithelioma" EXACT [] synonym: "malignant Epithelioma" EXACT [] xref: ICDO:8010/3 xref: MESH:D002277 xref: MESH:D009375 xref: NCI:C2916 xref: NCI:C3709 xref: SNOMEDCT_US_2023_03_01:188083002 xref: SNOMEDCT_US_2023_03_01:269513004 xref: SNOMEDCT_US_2023_03_01:71298006 xref: UMLS_CUI:C0007097 xref: UMLS_CUI:C0553707 xref: UMLS_CUI:C1368683 is_a: DOID:0050687 ! cell type cancer [Term] id: DOID:3052 name: Balkan nephropathy def: "An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria." [url:http\://en.wikipedia.org/wiki/Danubian_endemic_familial_nephropathy] comment: OMIM mapping confirmed by DO. [SN]. synonym: "Balkan endemic nephropathy" EXACT [] synonym: "Danubian endemic familial nephropathy" EXACT [] synonym: "DEFN" EXACT OMO:0003012 [] xref: ICD10CM:N15.0 xref: MESH:D001449 xref: MIM:124100 xref: SNOMEDCT_US_2023_03_01:197748005 xref: UMLS_CUI:C0004698 is_a: DOID:1063 ! interstitial nephritis [Term] id: DOID:3055 name: paratyphoid fever alt_id: DOID:13324 alt_id: DOID:13325 alt_id: DOID:3053 def: "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly." [url:http\://en.wikipedia.org/wiki/Paratyphoid_fever] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus synonym: "Paratyphoid" EXACT [] synonym: "paratyphoid a" EXACT [] synonym: "Paratyphoid A fever" EXACT [] synonym: "paratyphoid b" EXACT [] synonym: "Paratyphoid B fever" EXACT [] synonym: "paratyphoid c" EXACT [] synonym: "Paratyphoid C fever" EXACT [] synonym: "Paratyphoid fever A" EXACT [] synonym: "Paratyphoid fever B" EXACT [] synonym: "Paratyphoid fever C" EXACT [] xref: ICD10CM:A01.1 xref: ICD10CM:A01.2 xref: ICD10CM:A01.3 xref: ICD10CM:A01.4 xref: ICD9CM:002.1 xref: ICD9CM:002.2 xref: ICD9CM:002.3 xref: ICD9CM:002.9 xref: MESH:D010284 xref: NCI:C34894 xref: NCI:C34895 xref: NCI:C34896 xref: NCI:C34897 xref: SNOMEDCT_US_2023_03_01:51254007 xref: SNOMEDCT_US_2023_03_01:71085009 xref: SNOMEDCT_US_2023_03_01:76623002 xref: SNOMEDCT_US_2023_03_01:85904008 xref: UMLS_CUI:C0030528 xref: UMLS_CUI:C0343375 xref: UMLS_CUI:C0343376 xref: UMLS_CUI:C0343377 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:3056 name: obsolete Paramyxoviridae infectious disease def: "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses." [url:http\://en.wikipedia.org/wiki/Paramyxoviridae] is_obsolete: true [Term] id: DOID:306 name: obsolete dyskinetic syndrome synonym: "Dyskinesia" EXACT [] is_obsolete: true [Term] id: DOID:3067 name: obsolete taste disorder synonym: "disorder of taste (disorder)" EXACT [] synonym: "taste disorder" EXACT [] is_obsolete: true [Term] id: DOID:3068 name: glioblastoma alt_id: DOID:3075 alt_id: DOID:3080 def: "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes." [url:http\://cancergenome.nih.gov/cancersselected/glioblastomamultiforme, url:http\://en.wikipedia.org/wiki/Glioblastoma_multiforme, url:https\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:https\://www.ncbi.nlm.nih.gov/pubmed/23029035] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "adult glioblastoma multiforme" EXACT [] synonym: "GBM" EXACT OMO:0003012 [] synonym: "glioblastoma multiforme" EXACT [] synonym: "grade IV adult Astrocytic tumor" EXACT [] synonym: "primary glioblastoma multiforme" EXACT [] synonym: "spongioblastoma multiforme" EXACT [] xref: GARD:2491 xref: ICDO:9440/3 xref: MESH:D005909 xref: NCI:C129295 xref: NCI:C39750 xref: NCI:C9094 xref: SNOMEDCT_US_2023_03_01:63634009 xref: UMLS_CUI:C0017636 xref: UMLS_CUI:C0278878 xref: UMLS_CUI:C1514422 is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:3069 name: malignant astrocytoma alt_id: DOID:4861 def: "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord." [url:http\://en.wikipedia.org/wiki/Astrocytoma, url:http\://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Astrocytic tumor" EXACT [] synonym: "astrocytoma of brain" EXACT [] synonym: "astrocytoma of Cerebrum" EXACT [] synonym: "astroglioma" EXACT [] synonym: "cerebral astrocytoma" EXACT [] xref: ICDO:9400/3 xref: MESH:D001254 xref: NCI:C4951 xref: NCI:C60781 xref: SNOMEDCT_US_2023_03_01:189914005 xref: SNOMEDCT_US_2023_03_01:99131000119108 xref: UMLS_CUI:C0004114 xref: UMLS_CUI:C0750935 is_a: DOID:3070 ! high grade glioma is_a: DOID:3620 ! central nervous system cancer property_value: exactMatch "MESH:D001254" xsd:string [Term] id: DOID:3070 name: high grade glioma alt_id: DOID:2627 def: "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine." [url:http\://en.wikipedia.org/wiki/Malignant_glioma] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "glial cell tumor" EXACT [] synonym: "glioma, malignant" EXACT [] synonym: "malignant glioma" EXACT [] synonym: "malignant Neuroglial tumor" EXACT [] synonym: "Neuroglial tumor" EXACT [] xref: ICDO:9380/3 xref: KEGG:05214 xref: MESH:D005910 xref: MIM:PS137800 xref: NCI:C3059 xref: NCI:C4822 xref: ORDO:182067 xref: SNOMEDCT_US_2023_03_01:393564001 xref: SNOMEDCT_US_2023_03_01:74532006 xref: UMLS_CUI:C0017638 xref: UMLS_CUI:C0555198 is_a: DOID:0050687 ! cell type cancer [Term] id: DOID:3071 name: gliosarcoma def: "A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation." [url:https\://en.wikipedia.org/wiki/Gliosarcoma, url:https\://www.cancer.gov/rare-brain-spine-tumor/tumors/gliosarcoma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Glioblastoma with sarcomatous component" EXACT [] xref: GARD:5653 xref: ICDO:9442/3 xref: MESH:D018316 xref: NCI:C3796 xref: SNOMEDCT_US_2023_03_01:35262004 xref: UMLS_CUI:C0206726 is_a: DOID:3068 ! glioblastoma [Term] id: DOID:3072 name: obsolete secondary glioblastoma multiforme is_obsolete: true [Term] id: DOID:3073 name: brain glioblastoma multiforme def: "A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems." [url:https\://en.wikipedia.org/wiki/Glioblastoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "brain Glioblastoma" EXACT [] synonym: "Glioblastoma multiforme of brain" EXACT [] xref: NCI:C4642 xref: SNOMEDCT_US_2023_03_01:276828006 xref: UMLS_CUI:C0349543 is_a: DOID:0060108 ! brain glioma [Term] id: DOID:3074 name: giant cell glioblastoma def: "A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells." [url:http\://en.wikipedia.org/wiki/Giant-cell_glioblastoma, url:http\://neuro-oncology.oxfordjournals.org/content/11/6/833.full] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Monstrocellular sarcoma" EXACT [] xref: ICDO:9441/3 xref: MESH:D005909 xref: NCI:C4325 xref: SNOMEDCT_US_2023_03_01:44529004 xref: UMLS_CUI:C0334588 is_a: DOID:3068 ! glioblastoma [Term] id: DOID:3076 name: adult astrocytic tumor def: "A malignant astrocytoma that occurs during adulthood." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7049] subset: NCIthesaurus synonym: "adult astrocytic tumour" EXACT [] synonym: "adult astrocytoma" EXACT [] xref: NCI:C7049 xref: UMLS_CUI:C1332183 is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:3077 name: obsolete anaplastic childhood astrocytoma synonym: "pediatric Glioblastoma Multiforme" EXACT [] synonym: "Undifferentiated pediatric astrocytoma" EXACT [] is_obsolete: true [Term] id: DOID:3078 name: anaplastic astrocytoma def: "A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei." [url:http\://en.wikipedia.org/wiki/Anaplastic_astrocytoma, url:http\://www.cancer.gov/dictionary?CdrID=45591] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "grade III Astrocytic tumor" EXACT [] synonym: "grade III astrocytoma" EXACT [] xref: GARD:5860 xref: MESH:D001254 xref: NCI:C9477 xref: SNOMEDCT_US_2023_03_01:55353007 xref: UMLS_CUI:C0334579 is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:3079 name: childhood astrocytic tumor subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "juvenile astrocytoma" EXACT [] synonym: "pediatric astrocytoma" EXACT [] xref: NCI:C9022 xref: SNOMEDCT_US_2023_03_01:128854008 xref: UMLS_CUI:C1321865 is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:308 name: early myoclonic encephalopathy synonym: "Epileptic seizures - myoclonic" EXACT [] synonym: "Epileptic seizures, myoclonic" EXACT [] synonym: "myoclonia epileptica" EXACT [] synonym: "myoclonic epilepsy" EXACT [] synonym: "Myoclonic seizure" EXACT [] synonym: "Myoclonic seizure disorder" EXACT [] xref: MESH:D004831 xref: UMLS_CUI:C0014550 is_a: DOID:0050702 ! neonatal period electroclinical syndrome [Term] id: DOID:3081 name: cystic lymphangioma subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "cystic Hygroma" EXACT [] xref: GARD:6234 xref: ICDO:9173/0 xref: MESH:D018191 xref: MIM:257350 xref: NCI:C3724 xref: SNOMEDCT_US_2023_03_01:40225001 xref: UMLS_CUI:C0206620 is_a: DOID:1475 ! lymphangioma [Term] id: DOID:3082 name: interstitial lung disease def: "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215823/] subset: DO_rare_slim subset: NCIthesaurus synonym: "ILD" EXACT OMO:0003012 [] xref: GARD:13336 xref: ICD10CM:J84.9 xref: MESH:D017563 xref: MIM:PS619611 xref: NCI:C164315 xref: SNOMEDCT_US_2023_03_01:64667001 xref: UMLS_CUI:C0206062 is_a: DOID:65 ! connective tissue disease is_a: DOID:850 ! lung disease [Term] id: DOID:3083 name: chronic obstructive pulmonary disease alt_id: DOID:11500 alt_id: DOID:6144 def: "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both." [url:https\://pubmed.ncbi.nlm.nih.gov/28513453/, url:https\://pubmed.ncbi.nlm.nih.gov/32745458/, url:https\://pubmed.ncbi.nlm.nih.gov/32800196/, url:https\://www.nhlbi.nih.gov/health/copd] subset: DO_RAD_slim subset: NCIthesaurus synonym: "chronic obstructive airway disease" EXACT [] synonym: "chronic obstructive lung disease" EXACT [] synonym: "COLD" EXACT OMO:0003012 [] synonym: "COPD" EXACT OMO:0003012 [] xref: EFO:0000341 xref: ICD10CM:J44.9 xref: MESH:D029424 xref: MIM:606963 xref: NCI:C3199 xref: SNOMEDCT_US_2023_03_01:13645005 xref: UMLS_CUI:C0024117 is_a: DOID:2320 ! obstructive lung disease [Term] id: DOID:3086 name: gingival overgrowth synonym: "Gingival enlargement" EXACT [] xref: ICD10CM:K06.1 xref: MESH:D019214 xref: SNOMEDCT_US_2023_03_01:54711002 xref: UMLS_CUI:C0376480 is_a: DOID:1483 ! gingival disease [Term] id: DOID:3087 name: gingivitis alt_id: DOID:10422 alt_id: DOID:10424 subset: NCIthesaurus synonym: "acute gingivitis" EXACT [] synonym: "chronic gingivitis" EXACT [] xref: ICD10CM:K05.0 xref: ICD10CM:K05.1 xref: ICD10CM:K05.10 xref: ICD9CM:523.0 xref: ICD9CM:523.1 xref: MESH:D005891 xref: NCI:C34474 xref: NCI:C34636 xref: SNOMEDCT_US_2023_03_01:155643004 xref: SNOMEDCT_US_2023_03_01:196355002 xref: SNOMEDCT_US_2023_03_01:266490003 xref: UMLS_CUI:C0008684 xref: UMLS_CUI:C0017574 xref: UMLS_CUI:C0155937 is_a: DOID:1483 ! gingival disease [Term] id: DOID:3089 name: granulomatous orchitis subset: NCIthesaurus synonym: "Non-Specific Granulomatous Orchitis" EXACT [] xref: NCI:C27162 xref: SNOMEDCT_US_2023_03_01:50390006 xref: UMLS_CUI:C0436545 is_a: DOID:2519 ! testicular disease [Term] id: DOID:3090 name: obsolete testicular non-neoplastic disease is_obsolete: true [Term] id: DOID:3091 name: Acinetobacter infectious disease def: "An opportunistic bacterial infectious disease that has_material_basis_in Acinetobacter." [url:https\://www.cdc.gov/HAI/organisms/acinetobacter.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease is_a: DOID:0050340 ! opportunistic bacterial infectious disease [Term] id: DOID:3092 name: obsolete opportunistic Moraxellaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:3093 name: nervous system cancer alt_id: DOID:1193 alt_id: DOID:3195 alt_id: DOID:4695 def: "An organ system cancer located_in the nervous system that affects the central or peripheral nervous system." [url:http\://en.wikipedia.org/wiki/Nervous_system_disease] subset: NCIthesaurus synonym: "malignant neoplasm of nervous system" EXACT [] synonym: "neoplasm of nervous system" EXACT [] synonym: "nervous system neoplasm" EXACT [] synonym: "neural neoplasm" EXACT [] synonym: "neural tumor" EXACT [] synonym: "tumor of the nervous system" EXACT [] xref: ICD9CM:192.9 xref: MESH:D009380 xref: NCI:C35562 xref: SNOMEDCT_US_2023_03_01:188306000 xref: UMLS_CUI:C0027665 xref: UMLS_CUI:C0153643 xref: UMLS_CUI:C1334956 is_a: DOID:0050686 ! organ system cancer is_a: DOID:863 ! nervous system disease [Term] id: DOID:3094 name: obsolete neuroepithelial neoplasm synonym: "tumor of Neuroepithelium" EXACT [] is_obsolete: true [Term] id: DOID:3095 name: germ cell and embryonal cancer def: "A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells." [url:http\://en.wikipedia.org/wiki/Germ_cell] synonym: "germ cell and embryonal neoplasm" RELATED [] xref: MESH:D009373 xref: UMLS_CUI:C0027658 is_a: DOID:1115 ! sarcoma is_a: DOID:2994 ! germ cell cancer [Term] id: DOID:3096 name: stenosis of lacrimal sac xref: ICD10CM:H04.57 xref: ICD9CM:375.54 xref: SNOMEDCT_US_2023_03_01:11772001 xref: UMLS_CUI:C0155246 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:3097 name: obsolete stenosis and insufficiency of lacrimal passage synonym: "Stenosis and insufficiency of lacrimal passages (disorder)" EXACT [] synonym: "Stenosis and insufficiency of lacrimal passages NOS (disorder)" EXACT [] synonym: "Stenosis of lacrimal passages" EXACT [] is_obsolete: true [Term] id: DOID:3098 name: small cell sarcoma def: "A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm." [url:https\://pubmed.ncbi.nlm.nih.gov/36202860/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8803/3 xref: MESH:D018228 xref: NCI:C3746 xref: SNOMEDCT_US_2023_03_01:73506006 xref: UMLS_CUI:C0206652 is_a: DOID:1115 ! sarcoma [Term] id: DOID:310 name: MERRF syndrome comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Fukuhara syndrome" EXACT [] synonym: "Myoclonic epilepsy - ragged red fibers" EXACT [] synonym: "Myoclonus epilepsy AND ragged red fibers" EXACT [] synonym: "Myoclonus with epilepsy and with Ragged Red Fibers" EXACT [] xref: ICD10CM:E88.42 xref: MESH:D017243 xref: MIM:545000 xref: NCI:C84889 xref: SNOMEDCT_US_2023_03_01:68448003 xref: UMLS_CUI:C0162672 is_a: DOID:890 ! mitochondrial encephalomyopathy [Term] id: DOID:3100 name: obsolete Ureaplasma urealyticum urethritis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease is_obsolete: true [Term] id: DOID:3101 name: obsolete primary Mycoplasmatales infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:3102 name: obsolete cervical rib syndrome synonym: "Arterial thoracic outlet syndrome due to cervical rib" EXACT [] is_obsolete: true [Term] id: DOID:3103 name: thoracic outlet syndrome def: "A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles." [url:http\://en.wikipedia.org/wiki/Thoracic_outlet_syndrome] subset: DO_rare_slim subset: NCIthesaurus synonym: "TOS - Thoracic outlet syndrome" EXACT [] xref: GARD:7759 xref: ICD10CM:G54.0 xref: MESH:D013901 xref: NCI:C85188 xref: SNOMEDCT_US_2023_03_01:2040007 xref: UMLS_CUI:C0039984 is_a: DOID:178 ! vascular disease [Term] id: DOID:3106 name: obsolete Nematoda infectious disease alt_id: DOID:4190 def: "A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms." [url:http\://en.wikipedia.org/wiki/Nematode, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4783] synonym: "creeping eruption" EXACT [] synonym: "larva migrans" EXACT [] synonym: "Nematode infection" EXACT [] synonym: "Roundworm" EXACT [] synonym: "Roundworm infection" EXACT [] is_obsolete: true [Term] id: DOID:3107 name: toxascariasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite." [url:http\://en.wikipedia.org/wiki/Toxascaris_leonina] subset: DO_infectious_disease_slim xref: MESH:D017227 xref: UMLS_CUI:C0040522 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:3108 name: ascaridiasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18367882] subset: DO_infectious_disease_slim xref: MESH:D001198 xref: SNOMEDCT_US_2023_03_01:2435008 xref: UMLS_CUI:C0003952 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:3109 name: idiopathic CD4-positive T-lymphocytopenia def: "A lymphopenia that is caused by a reduction of CD4+ T lymphocytes." [url:http\://en.wikipedia.org/wiki/Idiopathic_CD4%2B_lymphocytopenia] subset: NCIthesaurus xref: MESH:D018344 xref: NCI:C84780 xref: UMLS_CUI:C0206744 is_a: DOID:614 ! lymphopenia [Term] id: DOID:3110 name: papillary cystadenocarcinoma def: "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections." [url:http\://www.sciencedirect.com/science/article/pii/S1741940905000841] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10162 xref: ICDO:8450/3 xref: MESH:D018283 xref: NCI:C3777 xref: SNOMEDCT_US_2023_03_01:2735009 xref: UMLS_CUI:C0206700 is_a: DOID:3111 ! cystadenocarcinoma [Term] id: DOID:3111 name: cystadenocarcinoma def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed." [url:http\://en.wikipedia.org/wiki/Cystadenocarcinoma] subset: NCIthesaurus xref: ICDO:8440/3 xref: MESH:D003536 xref: NCI:C2971 xref: SNOMEDCT_US_2023_03_01:21008007 xref: UMLS_CUI:C0010631 is_a: DOID:60004 ! malignant cystadenoma [Term] id: DOID:3112 name: papillary adenocarcinoma alt_id: DOID:5596 def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue." [url:http\://en.wikipedia.org/wiki/Papillary_adenocarcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Infiltrating and papillary adenocarcinoma" EXACT [] synonym: "infiltrating papillary adenocarcinoma" EXACT [] xref: ICDO:8260/3 xref: MESH:D000231 xref: NCI:C2853 xref: SNOMEDCT_US_2023_03_01:4797003 xref: UMLS_CUI:C0001420 is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:3113 name: papillary carcinoma def: "A carcinoma that is derives_from epithelial cells with finger like projections." [url:http\://breastcancer.about.com/od/types/p/papillary_ca.htm] subset: NCIthesaurus xref: ICDO:8050/3 xref: MESH:D002291 xref: NCI:C2927 xref: SNOMEDCT_US_2023_03_01:25910003 xref: UMLS_CUI:C0007133 is_a: DOID:305 ! carcinoma [Term] id: DOID:3114 name: serous cystadenocarcinoma def: "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions." [url:http\://ukpmc.ac.uk/abstract/MED/16025006] subset: NCIthesaurus synonym: "serous adenocarcinoma" EXACT [] synonym: "serous carcinoma" EXACT [] xref: MESH:D018284 xref: NCI:C3778 xref: SNOMEDCT_US_2023_03_01:90725004 xref: UMLS_CUI:C0206701 is_a: DOID:3111 ! cystadenocarcinoma [Term] id: DOID:3115 name: obsolete urinary tract transitional cell cancer synonym: "transitional cell neoplasm of the urinary tract" RELATED [] is_obsolete: true [Term] id: DOID:3116 name: kidney benign neoplasm subset: NCIthesaurus synonym: "renal and ureteral tumor" EXACT [] xref: NCI:C7514 xref: UMLS_CUI:C1334323 is_a: DOID:557 ! kidney disease is_a: DOID:731 ! urinary system benign neoplasm [Term] id: DOID:3117 name: hepatobiliary benign neoplasm def: "A gastrointestinal system benign neoplasm located_in the hepatobiliary system." [url:http\://en.wikipedia.org/wiki/Hepatobiliary_system] subset: NCIthesaurus synonym: "hepatobiliary tumors" EXACT [] xref: NCI:C8614 xref: UMLS_CUI:C0854196 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm [Term] id: DOID:3118 name: hepatobiliary disease def: "A gastrointestinal system disease that is located_in the liver and/or biliary tract." [url:http\://en.wikipedia.org/wiki/Hepato-biliary_diseases] subset: NCIthesaurus synonym: "liver and biliary tract disease" EXACT [] xref: MESH:D004066 xref: NCI:C3959 xref: UMLS_CUI:C0267792 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:3119 name: gastrointestinal system cancer alt_id: DOID:4945 alt_id: DOID:8377 def: "An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system." [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract] subset: DO_cancer_slim subset: DO_FlyBase_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "digestive system cancer" EXACT [] synonym: "gastrointestinal tract cancer" EXACT [] synonym: "GI tumor" EXACT [] xref: ICD10CM:C26.9 xref: ICD9CM:239.0 xref: MESH:D004067 xref: MESH:D005770 xref: NCI:C3052 xref: NCI:C4890 xref: SNOMEDCT_US_2023_03_01:128348002 xref: SNOMEDCT_US_2023_03_01:276806006 xref: SNOMEDCT_US_2023_03_01:428905002 xref: UMLS_CUI:C0012243 xref: UMLS_CUI:C0017185 xref: UMLS_CUI:C0685938 is_a: DOID:0050686 ! organ system cancer is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:312 name: tenosynovitis of foot and ankle def: "A tenosynovitis that is located in the foot and ankle." [url:https\://medlineplus.gov/ency/article/001242.htm] xref: ICD9CM:727.06 xref: UMLS_CUI:C0158331 is_a: DOID:970 ! tenosynovitis [Term] id: DOID:3120 name: gallbladder papillomatosis def: "A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue." [url:https\://pubmed.ncbi.nlm.nih.gov/25351203/] subset: NCIthesaurus xref: NCI:C7130 xref: UMLS_CUI:C1333754 is_a: DOID:0080640 ! gallbladder benign neoplasm is_a: DOID:2615 ! papilloma [Term] id: DOID:3121 name: gallbladder cancer alt_id: DOID:8090 alt_id: DOID:8157 def: "A biliary tract cancer that is located_in the gallbladder." [url:http\://en.wikipedia.org/wiki/Gallbladder] subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "gallbladder Ca" EXACT [] synonym: "gallbladder neoplasm" EXACT [] synonym: "localized malignant gallbladder neoplasm" EXACT [] synonym: "malignant neoplasm of gallbladder" EXACT [] synonym: "malignant tumor of the gallbladder" EXACT [] synonym: "malignant tumour of gallbladder" EXACT [] synonym: "tumor of the gallbladder" EXACT [] xref: GARD:9328 xref: ICD10CM:C23 xref: ICD9CM:156.0 xref: MESH:D005706 xref: NCI:C3048 xref: NCI:C35676 xref: NCI:C7481 xref: SNOMEDCT_US_2023_03_01:126854002 xref: SNOMEDCT_US_2023_03_01:93810008 xref: UMLS_CUI:C0016978 xref: UMLS_CUI:C0153452 xref: UMLS_CUI:C0278806 is_a: DOID:0060262 ! gallbladder disease is_a: DOID:4607 ! biliary tract cancer [Term] id: DOID:3122 name: gastric outlet obstruction synonym: "gastric outflow obstruction" EXACT [] xref: MESH:D017219 xref: SNOMEDCT_US_2023_03_01:196759006 xref: UMLS_CUI:C0162651 is_a: DOID:76 ! stomach disease [Term] id: DOID:3125 name: multiple endocrine neoplasia def: "A syndrome that is characterized by tumors in at least two endocrine glands." [url:https\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia] synonym: "Multiple endocrine adenomatosis" EXACT [] synonym: "Multiple endocrine neoplasia syndrome" EXACT [] xref: MESH:D009377 is_a: DOID:225 ! syndrome [Term] id: DOID:3127 name: proctitis def: "A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding." [url:http\://www.cdc.gov/std/Treatment/2006/proctitis.htm, url:http\://www.merck.com/mmpe/sec02/ch020/ch020i.html#sec02-ch020-ch020g-1361] subset: NCIthesaurus synonym: "ulcerative proctitis" NARROW [] xref: ICD10CM:K62.89 xref: MESH:D011349 xref: NCI:C38011 xref: SNOMEDCT_US_2023_03_01:266534007 xref: UMLS_CUI:C0033246 is_a: DOID:1285 ! rectal disease [Term] id: DOID:3128 name: anus disease alt_id: DOID:11479 alt_id: DOID:11993 def: "A rectal disease located_in the anus." [url:https\://www.health.harvard.edu/a_to_z/anal-disorders-a-to-z] subset: NCIthesaurus synonym: "anal disease" EXACT [] synonym: "anal fissure" EXACT [] synonym: "anal fissure and fistula" EXACT [] synonym: "anal ulcer" EXACT [] synonym: "fissure in ano" EXACT [] synonym: "Nontraumatic tear of anus" EXACT [] synonym: "Solitary anal ulcer" EXACT [] synonym: "Ulcer of anus" EXACT [] xref: MESH:D001004 xref: NCI:C26695 xref: SNOMEDCT_US_2023_03_01:32110003 xref: UMLS_CUI:C0003462 is_a: DOID:1285 ! rectal disease [Term] id: DOID:313 name: obsolete synovitis and tenosynovitis is_obsolete: true [Term] id: DOID:3132 name: porphyria cutanea tarda def: "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin." [url:http\://en.wikipedia.org/wiki/Porphyria_cutanea_tarda, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/321/viewAbstract] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7433 xref: ICD10CM:E80.1 xref: MESH:D017119 xref: MIM:176090 xref: MIM:176100 xref: NCI:C27725 xref: ORDO:101330 xref: SNOMEDCT_US_2023_03_01:61860000 xref: UMLS_CUI:C0162566 is_a: DOID:3133 ! acute porphyria [Term] id: DOID:3133 name: acute porphyria def: "A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis." [url:http\://en.wikipedia.org/wiki/Porphyria, url:http\://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/porphyrias/acute_porphyrias.html] comment: Xref MGI. subset: DO_rare_slim synonym: "hepatic porphyria" EXACT [] xref: MESH:D017094 xref: MIM:612740 xref: ORDO:100924 xref: SNOMEDCT_US_2023_03_01:55056006 xref: UMLS_CUI:C0162533 is_a: DOID:13268 ! porphyria [Term] id: DOID:3134 name: facial dermatosis xref: MESH:D005148 xref: UMLS_CUI:C0015456 is_a: DOID:37 ! skin disease [Term] id: DOID:3136 name: scalp dermatosis synonym: "Dermatosis of scalp" EXACT [] xref: MESH:D012536 xref: SNOMEDCT_US_2023_03_01:402694007 xref: UMLS_CUI:C0036271 is_a: DOID:37 ! skin disease [Term] id: DOID:3137 name: obsolete multiple symmetrical lipomatosis is_obsolete: true [Term] id: DOID:3138 name: acanthosis nigricans def: "A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas." [url:https\://pubmed.ncbi.nlm.nih.gov/32516476/, url:https\://www.ncbi.nlm.nih.gov/books/NBK431057/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "keratosis nigricans" EXACT [] xref: GARD:8603 xref: ICD10CM:L83 xref: MESH:D000052 xref: MIM:100600 xref: MIM:200170 xref: NCI:C26687 xref: SNOMEDCT_US_2023_03_01:72129000 xref: UMLS_CUI:C0000889 is_a: DOID:10123 ! pigmentation disease property_value: exactMatch "MESH:D000052" xsd:string [Term] id: DOID:314 name: tenosynovial giant cell tumor subset: DO_cancer_slim subset: NCIthesaurus synonym: "fibrous histiocytoma of tendon sheath" EXACT [] synonym: "Giant cell tumor of tendon sheath" EXACT [] synonym: "Giant cell tumor of Tenosynovium" EXACT [] synonym: "Giant cell tumour of tendon sheath" EXACT [] synonym: "Giant cell tumour of Tenosynovium" EXACT [] synonym: "tenosynovial giant cell tumour" EXACT [] xref: ICD9CM:727.02 xref: ICDO:9252/0 xref: MESH:D000070779 xref: NCI:C3402 xref: SNOMEDCT_US_2023_03_01:310605004 xref: UMLS_CUI:C1318543 is_a: DOID:200 ! benign giant cell tumor [Term] id: DOID:3140 name: scleredema adultorum def: "A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30128796] subset: DO_rare_slim subset: NCIthesaurus synonym: "Buschke's scleredema" EXACT [] xref: GARD:5975 xref: MESH:D012592 xref: NCI:C85057 xref: SNOMEDCT_US_2023_03_01:72967001 xref: UMLS_CUI:C0036413 is_a: DOID:37 ! skin disease [Term] id: DOID:3141 name: mucinoses def: "A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue." [url:https\://en.wikipedia.org/wiki/Mucinosis, url:https\://www.dermnetnz.org/topics/cutaneous-mucinoses/] xref: MESH:D017520 xref: SNOMEDCT_US_2023_03_01:11528001 xref: UMLS_CUI:C0162855 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:3142 name: leg dermatosis xref: MESH:D007868 xref: UMLS_CUI:C0023219 is_a: DOID:37 ! skin disease [Term] id: DOID:3143 name: obsolete eczematous skin disease alt_id: DOID:8546 alt_id: DOID:8547 alt_id: DOID:8550 alt_id: DOID:8588 alt_id: DOID:8589 alt_id: DOID:8657 alt_id: DOID:8723 alt_id: DOID:8804 alt_id: DOID:8901 alt_id: DOID:8908 alt_id: DOID:9014 alt_id: DOID:9089 alt_id: DOID:9147 alt_id: DOID:9236 synonym: "Contact dermatitis and other eczema" EXACT [] synonym: "Contact dermatitis and other eczema due to animal (cat) (dog) dander" EXACT [] synonym: "Contact dermatitis and other eczema due to detergents" EXACT [] synonym: "Contact dermatitis and other eczema due to drugs and medicines in contact with skin" EXACT [] synonym: "Contact dermatitis and other eczema due to food in contact with skin" EXACT [] synonym: "Contact dermatitis and other eczema due to oils and greases" EXACT [] synonym: "Contact dermatitis and other eczema due to other chemical products" EXACT [] synonym: "Contact dermatitis and other eczema due to other specified agents" EXACT [] synonym: "Contact dermatitis and other eczema due to plants" EXACT [] synonym: "Contact dermatitis and other eczema due to plants [except food]" EXACT [] synonym: "Contact dermatitis and other eczema due to solvents" EXACT [] synonym: "Contact dermatitis and other eczema, unspecified cause" EXACT [] synonym: "Contact dermatitis and other eczemas" EXACT [] synonym: "Contact dermatitis and other eczemas (disorder)" EXACT [] synonym: "Contact dermatitis due to cosmetics" EXACT [] synonym: "Contact dermatitis due to cosmetics (disorder)" EXACT [] synonym: "Contact dermatitis due to metal (disorder)" EXACT [] synonym: "Contact dermatitis due to metals" EXACT [] synonym: "Contact dermatitis due to metals (disorder)" EXACT [] synonym: "Contact dermatitis: metals" EXACT [] synonym: "Dermatitis due to cosmetics" EXACT [] synonym: "Dermatitis due to metals" EXACT [] synonym: "Dermatitis due to other radiation" EXACT [] synonym: "Dermatitis due to other radiation NOS" EXACT [] is_obsolete: true [Term] id: DOID:3144 name: cutis laxa def: "A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity." [url:http\://en.wikipedia.org/wiki/Cutis_laxa, url:http\://ghr.nlm.nih.gov/condition/cutis-laxa, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/175/viewAbstract] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "loose skin" EXACT [] xref: GARD:6227 xref: ICD10CM:Q82.8 xref: MESH:D003483 xref: MIM:PS123700 xref: NCI:C84663 xref: ORDO:209 xref: SNOMEDCT_US_2023_03_01:238825007 xref: UMLS_CUI:C0010495 is_a: DOID:37 ! skin disease [Term] id: DOID:3145 name: hyperlipoproteinemia type III def: "A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/27481046/] subset: NCIthesaurus synonym: "carbohydrate induced hyperlipemia" EXACT [] synonym: "familial hypercholesterolaemia with hyperlipaemia" EXACT [] synonym: "familial type 3 hyperlipoproteinemia" EXACT [] synonym: "Remnant hyperlipidemia" EXACT [] xref: MESH:D006952 xref: MIM:617347 xref: NCI:C34710 xref: SNOMEDCT_US_2023_03_01:42569002 xref: UMLS_CUI:C0020479 is_a: DOID:1168 ! familial hyperlipidemia [Term] id: DOID:3146 name: lipid metabolism disorder def: "An inherited metabolic disorder that involves the creation and degradation of lipids." [url:http\://en.wikipedia.org/wiki/Lipid_metabolism] subset: DO_FlyBase_slim synonym: "dyslipidemia" EXACT [] synonym: "fatty acid metabolism disorder" EXACT [] xref: MESH:D008052 xref: UMLS_CUI:C0023772 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:3148 name: dermal unilateral segmental cavernous angioma synonym: "Unilateral segmental cavernous hemangioma" EXACT [] synonym: "Unilateral Segmental Cavernous hemangioma of the skin" EXACT [] xref: SNOMEDCT_US_2023_03_01:254783008 xref: UMLS_CUI:C0474966 is_a: DOID:483 ! cavernous hemangioma [Term] id: DOID:3149 name: keratoacanthoma subset: NCIthesaurus xref: MESH:D007636 xref: NCI:C3146 xref: SNOMEDCT_US_2023_03_01:201061007 xref: UMLS_CUI:C0022572 is_a: DOID:3151 ! skin squamous cell carcinoma [Term] id: DOID:315 name: synovium neoplasm subset: NCIthesaurus synonym: "Synovial neoplasm" EXACT [] synonym: "tumor of Synovium" EXACT [] xref: NCI:C8964 xref: SNOMEDCT_US_2023_03_01:189829008 xref: UMLS_CUI:C0476203 is_a: DOID:0060123 ! connective tissue benign neoplasm [Term] id: DOID:3151 name: skin squamous cell carcinoma def: "A skin carcinoma that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Epidermoid skin carcinoma" EXACT [] synonym: "squamous cell carcinoma of skin" RELATED [] xref: NCI:C4819 xref: SNOMEDCT_US_2023_03_01:254651007 xref: UMLS_CUI:C0553723 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:3451 ! skin carcinoma [Term] id: DOID:3153 name: lipomatosis synonym: "multiple lipomatosis" EXACT [] xref: ICD10CM:E88.2 xref: MESH:D008068 xref: SNOMEDCT_US_2023_03_01:37095002 xref: UMLS_CUI:C0023801 is_a: DOID:37 ! skin disease [Term] id: DOID:3156 name: hypomelanosis of Ito def: "A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation)." [url:https\://rarediseases.org/rare-diseases/hypomelanosis-of-ito/] subset: NCIthesaurus synonym: "Bloch-Siemans syndrome" EXACT [] synonym: "incontinentia pigmenti achromians" EXACT [] synonym: "Incontinentia pigmenti achromians syndrome" EXACT [] synonym: "Ito's nevus" EXACT [] synonym: "nevus of Ito" EXACT [] xref: MESH:D010859 xref: MIM:300337 xref: NCI:C7582 xref: SNOMEDCT_US_2023_03_01:367520004 xref: UMLS_CUI:C0022283 is_a: DOID:37 ! skin disease [Term] id: DOID:3157 name: obsolete congenital melanocytic nevus synonym: "Congenital melanocytic naevus of skin" EXACT [] synonym: "Congenital melanocytic nevus (disorder)" EXACT [] synonym: "Congenital melanocytic nevus (morphologic abnormality)" EXACT [] synonym: "Congenital pigmented melanocytic naevus" EXACT [] synonym: "Congenital pigmented melanocytic naevus of skin" EXACT [] synonym: "Congenital Pigmented skin nevus" EXACT [] is_obsolete: true [Term] id: DOID:3158 name: hand dermatosis xref: MESH:D006229 xref: UMLS_CUI:C0018567 is_a: DOID:37 ! skin disease [Term] id: DOID:3159 name: photosensitivity disease synonym: "Photodermatitis" EXACT [] xref: MESH:D010787 xref: SNOMEDCT_US_2023_03_01:22649008 xref: UMLS_CUI:C0031762 is_a: DOID:2723 ! dermatitis [Term] id: DOID:3162 name: malignant spindle cell melanoma def: "A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144801/] subset: NCIthesaurus synonym: "desmoplastic melanoma" RELATED [] synonym: "spindle cell malignant melanoma" EXACT [] synonym: "spindle cell melanoma" EXACT [] synonym: "Spitzoid malignant melanoma" EXACT [] xref: NCI:C4237 xref: SNOMEDCT_US_2023_03_01:68827007 xref: UMLS_CUI:C0334444 is_a: DOID:1909 ! melanoma [Term] id: DOID:3163 name: obsolete spindle cell cancer def: "A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells." [url:http\://www.cancer.gov/dictionary/?CdrID=44506] synonym: "malignant spindle cell tumor" EXACT [] synonym: "malignant tumor, fusiform cell type (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:3164 name: obsolete Hair nevus synonym: "Hair nevus (disorder)" EXACT [] synonym: "Hairy naevus" EXACT [] synonym: "Hairy naevus NOS" EXACT [] synonym: "Hairy nevus NOS (morphologic abnormality)" EXACT [] synonym: "Nevoid hypertrichosis" EXACT [] is_obsolete: true [Term] id: DOID:3165 name: skin benign neoplasm subset: NCIthesaurus synonym: "neoplasm of skin" EXACT [] synonym: "neoplasm of skin by site" EXACT [] synonym: "skin neoplasm" EXACT [] synonym: "tumor of the skin" EXACT [] xref: MESH:D012878 xref: NCI:C3372 xref: SNOMEDCT_US_2023_03_01:126488004 xref: UMLS_CUI:C0037286 is_a: DOID:0060121 ! integumentary system benign neoplasm is_a: DOID:37 ! skin disease [Term] id: DOID:3166 name: obsolete leukemoid reaction comment: This is not a disease. A leukemoid reaction is an increase in the white blood cell count, which can mimic leukemia. The reaction is actually due to an infection or another disease and is not a sign of cancer. Blood counts often return to normal when the underlying condition is treated. synonym: "transient myeloproliferative disorder" RELATED [] xref: ICD10CM:D72.823 xref: ICD9CM:288.62 xref: MESH:D007955 xref: NCI:C3185 xref: UMLS_CUI:C0023501 is_obsolete: true [Term] id: DOID:3168 name: squamous cell neoplasm def: "A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] subset: NCIthesaurus synonym: "Epidermoid cell tumor" EXACT [] synonym: "squamous cell tumor" EXACT [] xref: MESH:D018307 xref: NCI:C3792 xref: SNOMEDCT_US_2023_03_01:118286007 xref: UMLS_CUI:C0206720 is_a: DOID:0060084 ! cell type benign neoplasm [Term] id: DOID:3169 name: obsolete papillary epithelial neoplasm is_obsolete: true [Term] id: DOID:3171 name: obsolete respiratory tract papilloma synonym: "papilloma of the respiratory tract" EXACT [] is_obsolete: true [Term] id: DOID:3172 name: papillary adenoma subset: NCIthesaurus synonym: "glandular papilloma" EXACT [] xref: ICDO:8260/0 xref: MESH:D000236 xref: NCI:C79951 xref: SNOMEDCT_US_2023_03_01:86143001 xref: UMLS_CUI:C0205650 is_a: DOID:657 ! adenoma [Term] id: DOID:3173 name: fallopian tube serous papilloma def: "A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth." [url:https\://en.wikipedia.org/wiki/Papilloma, url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=true&q=serous] subset: NCIthesaurus xref: NCI:C40112 xref: UMLS_CUI:C1517123 is_a: DOID:0060111 ! fallopian tube benign neoplasm [Term] id: DOID:3177 name: verrucous papilloma subset: NCIthesaurus xref: ICDO:8051/0 xref: NCI:C4101 xref: SNOMEDCT_US_2023_03_01:48218007 xref: UMLS_CUI:C0334243 is_a: DOID:2615 ! papilloma [Term] id: DOID:3178 name: skin papilloma def: "A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk." [url:https\://www.ncbi.nlm.nih.gov/books/NBK560737/] subset: NCIthesaurus synonym: "cutaneous papilloma" EXACT [] synonym: "papilloma of skin" EXACT [] xref: NCI:C4614 xref: SNOMEDCT_US_2023_03_01:189051001 xref: UMLS_CUI:C0347390 is_a: DOID:2615 ! papilloma is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:3179 name: inverted papilloma subset: NCIthesaurus synonym: "Inverted papilloma, squamous cell" EXACT [] xref: MESH:D018308 xref: NCI:C3793 xref: SNOMEDCT_US_2023_03_01:104081000119103 xref: UMLS_CUI:C0206721 is_a: DOID:2615 ! papilloma [Term] id: DOID:318 name: progressive muscular atrophy subset: NCIthesaurus synonym: "progressive spinal muscular atrophy" EXACT [] synonym: "Pure progressive muscular atrophy" EXACT [] xref: ICD9CM:335.21 xref: MESH:D009134 xref: NCI:C85027 xref: SNOMEDCT_US_2023_03_01:88923002 xref: UMLS_CUI:C0917981 is_a: DOID:231 ! motor neuron disease [Term] id: DOID:3181 name: oligodendroglioma alt_id: DOID:3182 subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "oligodendroglial neoplasm" EXACT [] synonym: "oligodendroglial tumor" EXACT [] xref: GARD:9953 xref: ICDO:9450/3 xref: MESH:D009837 xref: NCI:C3288 xref: UMLS_CUI:C0751396 is_a: DOID:3070 ! high grade glioma property_value: exactMatch "MESH:D009837" xsd:string [Term] id: DOID:3183 name: childhood oligodendroglioma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric Oligodendroglioma" EXACT [] xref: MESH:D009837 xref: NCI:C4045 xref: UMLS_CUI:C0280475 is_a: DOID:3181 ! oligodendroglioma [Term] id: DOID:3184 name: spinal cord oligodendroglioma subset: NCIthesaurus synonym: "Oligodendroglioma of spinal cord" EXACT [] synonym: "Well differentiated Spinal Cord Oligodendroglioma" EXACT [] xref: NCI:C4535 xref: SNOMEDCT_US_2023_03_01:254950006 xref: UMLS_CUI:C0346295 is_a: DOID:3181 ! oligodendroglioma is_a: DOID:3185 ! spinal cord glioma [Term] id: DOID:3185 name: spinal cord glioma def: "A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells." [url:http\://www.cancer.gov/dictionary?CdrID=45700] subset: NCIthesaurus synonym: "Glial neoplasm Spinal Cord" EXACT [] synonym: "Glial tumor of spinal cord" EXACT [] synonym: "glioma of spinal cord" EXACT [] xref: NCI:C4534 xref: SNOMEDCT_US_2023_03_01:254946004 xref: UMLS_CUI:C2937245 is_a: DOID:3070 ! high grade glioma is_a: DOID:5612 ! spinal cancer [Term] id: DOID:3186 name: adult oligodendroglioma alt_id: DOID:7355 subset: NCIthesaurus synonym: "adult brain oligodendroglioma" EXACT [] synonym: "grade II adult Oligodendroglial tumor" EXACT [] xref: MESH:D009837 xref: NCI:C4014 xref: NCI:C9376 xref: UMLS_CUI:C0279070 xref: UMLS_CUI:C1332190 is_a: DOID:3181 ! oligodendroglioma [Term] id: DOID:3187 name: brain oligodendroglioma def: "A brain glioma that has_material_basis_in oligodendrocytes." [url:http\://www.cancer.gov/dictionary?CdrID=46257] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Oligodendroglioma of brain" EXACT [] xref: NCI:C9377 xref: SNOMEDCT_US_2023_03_01:254940005 xref: UMLS_CUI:C0346286 is_a: DOID:0060108 ! brain glioma [Term] id: DOID:319 name: spinal cord disease subset: NCIthesaurus synonym: "myelopathy" RELATED [] xref: ICD10CM:G95.9 xref: ICD9CM:336.9 xref: MESH:D013118 xref: NCI:C97110 xref: SNOMEDCT_US_2023_03_01:48522003 xref: UMLS_CUI:C0037928 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:3191 name: nemaline myopathy def: "A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies." [url:http\://en.wikipedia.org/wiki/Nemaline_myopathy, url:http\://ghr.nlm.nih.gov/condition/nemaline-myopathy, url:https\://www.mda.org/disease/congenital-myopathies/types/nemaline-myopathy, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract] comment: Xref MGI. subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "Nemaline body disease" EXACT [] synonym: "nemaline rod myopathy" EXACT [] synonym: "rod body disease" EXACT [] synonym: "rod myopathy" EXACT [] xref: GARD:12033 xref: ICD10CM:G71.21 xref: MESH:D017696 xref: MIM:PS161800 xref: ORDO:607 xref: SNOMEDCT_US_2023_03_01:75072002 xref: UMLS_CUI:C0206157 is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:3192 name: neurilemmoma alt_id: DOID:955 def: "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells." [url:https\://en.wikipedia.org/wiki/Schwannoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Psammomatous schwannoma" EXACT [] synonym: "schwannoma" EXACT [] xref: ICDO:9560/3 xref: MESH:D009442 xref: NCI:C3269 xref: SNOMEDCT_US_2023_03_01:985004 xref: UMLS_CUI:C0027809 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:2001 ! neuroma [Term] id: DOID:3193 name: peripheral nerve sheath neoplasm def: "A peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves." [url:http\://en.wikipedia.org/wiki/Malignant_peripheral_nerve_sheath_tumor] subset: DO_cancer_slim synonym: "neoplasm of the nerve Sheath" EXACT [] synonym: "nerve sheath tumour" EXACT [] xref: MESH:D018317 xref: UMLS_CUI:C0751689 is_a: DOID:1192 ! peripheral nervous system neoplasm [Term] id: DOID:3196 name: cellular schwannoma def: "A neurilemmoma with a predominantly cellular growth but no Verocay bodies." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2400975] subset: NCIthesaurus synonym: "cellular Neurinoma" EXACT [] xref: NCI:C4724 xref: SNOMEDCT_US_2023_03_01:253086004 xref: UMLS_CUI:C0431124 is_a: DOID:3192 ! neurilemmoma [Term] id: DOID:3197 name: schwannoma of twelfth cranial nerve def: "A neurilemmoma that is located_in the 12th cranial nerve." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078147/] subset: NCIthesaurus synonym: "Hypoglossal Schwannoma" EXACT [] xref: NCI:C5434 xref: UMLS_CUI:C1335928 is_a: DOID:13814 ! hypoglossal nerve disease is_a: DOID:3192 ! neurilemmoma [Term] id: DOID:3198 name: hypoglossal nerve neoplasm subset: NCIthesaurus synonym: "neoplasm of hypoglossal nerve" EXACT [] synonym: "tumor of Hypoglossal nerve" EXACT [] xref: NCI:C5830 xref: SNOMEDCT_US_2023_03_01:126978008 xref: UMLS_CUI:C1263903 is_a: DOID:2815 ! cranial nerve malignant neoplasm [Term] id: DOID:3199 name: C-P angle neurinoma subset: NCIthesaurus synonym: "Cerebellopontine Angle Neurinoma" EXACT [] xref: NCI:C5413 xref: UMLS_CUI:C1332905 is_a: DOID:3200 ! cerebellopontine angle tumor [Term] id: DOID:320 name: vascular myelopathy synonym: "vascular myelopathies" EXACT [] xref: ICD10CM:G95.1 xref: ICD9CM:336.1 xref: SNOMEDCT_US_2023_03_01:29774004 xref: UMLS_CUI:C0154685 is_a: DOID:319 ! spinal cord disease [Term] id: DOID:3200 name: cerebellopontine angle tumor def: "A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopontine angle." [url:https\://en.wikipedia.org/wiki/Cerebellopontine_angle_syndrome] subset: NCIthesaurus synonym: "cerebellopontine angle tumour" EXACT [] synonym: "neoplasm of the Cerebellopontine Angle" EXACT [] xref: NCI:C5414 is_a: DOID:4203 ! brain stem cancer [Term] id: DOID:3201 name: sympathetic neurilemmoma subset: NCIthesaurus xref: NCI:C5421 xref: UMLS_CUI:C1336543 is_a: DOID:2621 ! autonomic nervous system neoplasm [Term] id: DOID:3202 name: neurilemmoma of the fifth cranial nerve subset: NCIthesaurus synonym: "Trigeminal Neurilemmoma" EXACT [] synonym: "Trigeminal schwannoma" EXACT [] xref: NCI:C4655 xref: SNOMEDCT_US_2023_03_01:277185000 xref: UMLS_CUI:C0349582 is_a: DOID:1201 ! trigeminal nerve neoplasm [Term] id: DOID:3203 name: macrocystic neurilemmoma subset: NCIthesaurus xref: NCI:C5321 xref: UMLS_CUI:C4054526 is_a: DOID:3192 ! neurilemmoma [Term] id: DOID:3204 name: schwannomatosis def: "A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors." [url:https\://health.ucdavis.edu/mindinstitute/clinic/genomic-medicine/RASclinic.html, url:https\://pubmed.ncbi.nlm.nih.gov/35674741/] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "neurilemmomatosis" EXACT [] synonym: "neurinomatosis" EXACT [] synonym: "SWN" EXACT OMO:0003012 [] xref: ICD10CM:Q85.03 xref: ICD9CM:237.73 xref: ICDO:9560/1 xref: MESH:C536641 xref: MIM:PS162091 xref: NCI:C6557 xref: ORDO:93921 xref: SNOMEDCT_US_2023_03_01:781641005 xref: UMLS_CUI:C1335929 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy property_value: broadMatch "ORDO:634518" xsd:string property_value: exactMatch "ICD10CM:Q85.03" xsd:string property_value: exactMatch "ICD9CM:237.73" xsd:string property_value: exactMatch "ICDO:9560/1" xsd:string property_value: exactMatch "MESH:C536641" xsd:string property_value: exactMatch "MIM:PS162091" xsd:string property_value: exactMatch "NCI:C6557" xsd:string property_value: exactMatch "ORDO:93921" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:781641005" xsd:string property_value: exactMatch "UMLS_CUI:C1335929" xsd:string property_value: narrowMatch "ORDO:634492" xsd:string [Term] id: DOID:3205 name: melanotic neurilemmoma subset: NCIthesaurus synonym: "Melanotic Schwannoma" EXACT [] synonym: "Pigmented Neurilemmoma" EXACT [] synonym: "Pigmented schwannoma" EXACT [] xref: NCI:C6970 xref: SNOMEDCT_US_2023_03_01:253088003 xref: UMLS_CUI:C1306247 is_a: DOID:3192 ! neurilemmoma [Term] id: DOID:3206 name: plexiform schwannoma subset: NCIthesaurus synonym: "Plexiform neurilemmoma" EXACT [] synonym: "Plexiform Neurinoma" EXACT [] xref: NCI:C6969 xref: SNOMEDCT_US_2023_03_01:404025004 xref: UMLS_CUI:C1370659 is_a: DOID:3192 ! neurilemmoma [Term] id: DOID:3208 name: obsolete sensation disorder is_obsolete: true [Term] id: DOID:3209 name: junctional epidermolysis bullosa def: "An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin." [url:https\://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa#genes] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "congenital junctional epidermolysis bullosa" EXACT [] xref: GARD:2152 xref: MESH:D016109 xref: NCI:C90598 xref: SNOMEDCT_US_2023_03_01:76905008 xref: UMLS_CUI:C0079301 is_a: DOID:2730 ! epidermolysis bullosa [Term] id: DOID:321 name: tropical spastic paraparesis def: "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms." [url:http\://en.wikipedia.org/wiki/Tropical_spastic_paraparesis, url:http\://www.merckmanuals.com/professional/sec16/ch224/ch224k.html] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "HTLV-associated myelopathy" EXACT [] synonym: "Tropical spastic paralysis" EXACT [] synonym: "Tropical spastic paraplegia" EXACT [] xref: ICD10CM:G04.1 xref: MESH:D015493 xref: MIM:159580 xref: NCI:C179058 xref: SNOMEDCT_US_2023_03_01:45129002 xref: UMLS_CUI:C0030481 is_a: DOID:319 ! spinal cord disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:3210 name: Pelizaeus-Merzbacher disease def: "A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22." [url:https\://www.ncbi.nlm.nih.gov/books/NBK560522/, url:https\://www.ncbi.nlm.nih.gov/pubmed/15627202, url:https\://www.ncbi.nlm.nih.gov/pubmed/2773936, url:https\://www.ncbi.nlm.nih.gov/pubmed/3476455] subset: DO_rare_slim subset: NCIthesaurus synonym: "diffuse familial brain sclerosis" EXACT [] synonym: "HLD1" EXACT OMO:0003012 [] synonym: "hypomyelinating leukodystrophy 1" EXACT [] synonym: "Leukodystrophy, sudanophilic" EXACT [] synonym: "Pelizaeus Merzbacher brain sclerosis" EXACT [] synonym: "Pelizaeus-Merzbacher brain sclerosis" EXACT [] synonym: "PMD" EXACT OMO:0003012 [] synonym: "sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [] xref: GARD:4265 xref: MESH:D020371 xref: MIM:312080 xref: NCI:C75487 xref: ORDO:702 xref: SNOMEDCT_US_2023_03_01:64855000 xref: UMLS_CUI:C0205711 is_a: DOID:0060786 ! hypomyelinating leukodystrophy is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:3211 name: lysosomal storage disease def: "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function." [url:http\://en.wikipedia.org/wiki/Lysosomal_storage_disease] subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "disorder of lysosomal enzyme" EXACT [] synonym: "inborn lysosomal enzyme disorder" EXACT [] synonym: "lysosomal storage metabolism disorder" EXACT [] xref: MESH:D016464 xref: NCI:C61250 xref: SNOMEDCT_US_2023_03_01:23585005 xref: UMLS_CUI:C0085078 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:3212 name: obsolete hereditary central nervous system demyelinating disease is_obsolete: true [Term] id: DOID:3213 name: demyelinating disease def: "A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17071802] subset: NCIthesaurus synonym: "demyelinating disorder" EXACT [] xref: MESH:D003711 xref: NCI:C34527 xref: UMLS_CUI:C0011303 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:3215 name: obsolete infectious bovine rhinotracheitis def: "A Varicellovirus infectious disease that results_in infection in cattle, located_in upper respiratory tract, and located_in genital tract, has_material_basis_in Bovine herpesvirus 1, has_symptom nasal discharge, has_symptom fever, has_symptom abortion, and has_symptom conjunctivitis." [url:http\://www.oie.int/eng/normes/mmanual/2008/pdf/2.04.13_IBR_IPV.pdf, url:http\://www.thecattlesite.com/diseaseinfo/174/infectious-bovine-rhinotracheitis-ibr] synonym: "Infectious bovine rhinotracheitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:3216 name: jejunal somatostatinoma subset: NCIthesaurus synonym: "jejunal delta cell somatostatin producing tumor" EXACT [] synonym: "Somatosatinoma of Jejunum" EXACT [] xref: NCI:C5787 xref: UMLS_CUI:C1334297 is_a: DOID:13499 ! jejunal cancer [Term] id: DOID:3217 name: obsolete small intestinal delta cell somatostatin producing tumor is_obsolete: true [Term] id: DOID:3218 name: jejunal neoplasm subset: NCIthesaurus synonym: "Jejunal tumor" EXACT [] synonym: "neoplasm of jejunum" EXACT [] synonym: "tumor of jejunum" EXACT [] xref: MESH:D007580 xref: NCI:C8401 xref: SNOMEDCT_US_2023_03_01:254575004 xref: UMLS_CUI:C0022374 is_a: DOID:7505 ! small intestine benign neoplasm [Term] id: DOID:322 name: myelitis def: "A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord." [url:https\://en.wikipedia.org/wiki/Myelitis] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7130 xref: MESH:D009187 xref: NCI:C26832 xref: SNOMEDCT_US_2023_03_01:192682002 xref: UMLS_CUI:C0026975 is_a: DOID:319 ! spinal cord disease [Term] id: DOID:3222 name: causalgia subset: NCIthesaurus synonym: "Complex regional pain syndrome, type II" EXACT [] xref: MESH:D002422 xref: NCI:C121572 xref: SNOMEDCT_US_2023_03_01:247397004 xref: UMLS_CUI:C0007462 is_a: DOID:3223 ! complex regional pain syndrome [Term] id: DOID:3223 name: complex regional pain syndrome subset: DO_rare_slim synonym: "Complex regional pain syndromes" EXACT [] xref: GARD:4647 xref: MESH:D020918 xref: SNOMEDCT_US_2023_03_01:128200000 xref: UMLS_CUI:C0458219 is_a: DOID:11465 ! autonomic nervous system disease [Term] id: DOID:3225 name: tracheal disease subset: NCIthesaurus xref: ICD10CM:S12.8 xref: MESH:D014133 xref: NCI:C35079 xref: SNOMEDCT_US_2023_03_01:47125007 xref: UMLS_CUI:C0040580 is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:3227 name: tracheal stenosis subset: NCIthesaurus synonym: "Stenosis of trachea" EXACT [] xref: MESH:D014135 xref: NCI:C78646 xref: SNOMEDCT_US_2023_03_01:11296007 xref: UMLS_CUI:C0040583 is_a: DOID:3225 ! tracheal disease property_value: exactMatch "MESH:D014135" xsd:string [Term] id: DOID:3229 name: gastric dilatation synonym: "stomach dilatation" EXACT [] xref: MESH:D013271 xref: UMLS_CUI:C0038353 is_a: DOID:76 ! stomach disease [Term] id: DOID:323 name: obsolete Human T-lymphotropic virus 1 infectious disease alt_id: DOID:2931 def: "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." [url:http\://emedicine.medscape.com/article/219285-overview] synonym: "HTLV-1 infectious disease" EXACT [] synonym: "HTLV-I infectious disease" EXACT [] is_obsolete: true [Term] id: DOID:3230 name: high pressure neurological syndrome xref: MESH:D006610 xref: UMLS_CUI:C0019537 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:3231 name: obsolete occupational disease synonym: "occupational disorder" EXACT [] is_obsolete: true [Term] id: DOID:3234 name: central nervous system lymphoma alt_id: DOID:3233 def: "A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system." [url:https\://www.lls.org/lymphoma/non-hodgkin-lymphoma/treatment/treatment-for-aggressive-nhl-subtypes/central-nervous-system-cns-lymphoma] subset: NCIthesaurus synonym: "Microglioma" EXACT [] synonym: "primary CNS lymphoma" EXACT [] xref: ICD9CM:200.5 xref: NCI:C9301 xref: SNOMEDCT_US_2023_03_01:69110006 xref: UMLS_CUI:C0280803 is_a: DOID:0060058 ! lymphoma is_a: DOID:5772 ! central nervous system hematologic cancer [Term] id: DOID:3239 name: obsolete pigmented spindle cell nevus alt_id: DOID:2416 synonym: "spindle cell nevus" EXACT [] synonym: "spindle cell nevus (disorder)" EXACT [] synonym: "spindle cell nevus (morphologic abnormality)" EXACT [] synonym: "spindle cell nevus of Reed" EXACT [] is_obsolete: true [Term] id: DOID:3240 name: aspiration pneumonitis alt_id: DOID:13016 alt_id: DOID:13506 def: "A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration." [url:http\://www.nejm.org/doi/full/10.1056/NEJM200103013440908] synonym: "Chemical pneumonitis" EXACT [] synonym: "Mendelson's Syndrome" EXACT [] xref: ICD10CM:J69.0 xref: MESH:D011015 xref: SNOMEDCT_US_2023_03_01:47839005 xref: UMLS_CUI:C0032290 is_a: DOID:552 ! pneumonia [Term] id: DOID:3241 name: lipid pneumonia alt_id: DOID:13015 def: "An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." [url:http\://en.wikipedia.org/wiki/Lipid_pneumonia] synonym: "Exogenous lipoid pneumonia" EXACT [] synonym: "Lipoid pneumonitis" EXACT [] xref: ICD10CM:J69.1 xref: MESH:D011017 xref: SNOMEDCT_US_2023_03_01:196038008 xref: UMLS_CUI:C0032298 is_a: DOID:3240 ! aspiration pneumonitis [Term] id: DOID:3246 name: embryonal rhabdomyosarcoma def: "A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs." [url:http\://en.wikipedia.org/wiki/Embryonal_rhabdomyosarcoma, url:http\://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/Patient/page1] comment: Xref MGI. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:4702 xref: ICDO:8910/3 xref: MESH:D018233 xref: MIM:268210 xref: NCI:C8971 xref: ORDO:99757 xref: SNOMEDCT_US_2023_03_01:404051002 xref: UMLS_CUI:C0206656 is_a: DOID:3247 ! rhabdomyosarcoma [Term] id: DOID:3247 name: rhabdomyosarcoma def: "A skeletal muscle cancer that arise from skeletal muscle progenitors." [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma, url:https\://pmc.ncbi.nlm.nih.gov/articles/PMC9425116/] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8900/3 xref: MESH:D012208 xref: NCI:C3359 xref: SNOMEDCT_US_2023_03_01:302847003 xref: UMLS_CUI:C0035412 is_a: DOID:1115 ! sarcoma is_a: DOID:4043 ! skeletal muscle cancer [Term] id: DOID:3250 name: pleomorphic rhabdomyosarcoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "anaplastic Rhabdomyosarcoma" EXACT [] synonym: "Pleomorphic rhabdomyosarcoma, adult type" EXACT [] xref: ICDO:8901/3 xref: NCI:C4258 xref: SNOMEDCT_US_2023_03_01:404054005 xref: UMLS_CUI:C0334480 is_a: DOID:3247 ! rhabdomyosarcoma [Term] id: DOID:3251 name: prostate embryonal rhabdomyosarcoma def: "A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863144/] subset: NCIthesaurus synonym: "Embryonal Rhabdomyosarcoma of the prostate" EXACT [] xref: NCI:C5525 xref: UMLS_CUI:C1335508 is_a: DOID:3252 ! prostate rhabdomyosarcoma [Term] id: DOID:3252 name: prostate rhabdomyosarcoma def: "A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26776454, url:https\://www.ncbi.nlm.nih.gov/pubmed/29468476] subset: NCIthesaurus synonym: "Rhabdomyosarcoma of the prostate" EXACT [] xref: NCI:C5522 xref: UMLS_CUI:C1335518 is_a: DOID:4054 ! prostate sarcoma [Term] id: DOID:3253 name: embryonal extrahepatic bile duct rhabdomyosarcoma subset: NCIthesaurus xref: NCI:C5847 xref: UMLS_CUI:C1333505 is_a: DOID:3254 ! bile duct rhabdomyosarcoma [Term] id: DOID:3254 name: bile duct rhabdomyosarcoma def: "A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct." [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma] subset: NCIthesaurus synonym: "rhabdomyosarcoma of the bile duct" EXACT [] xref: NCI:C5860 xref: UMLS_CUI:C2064434 is_a: DOID:3247 ! rhabdomyosarcoma is_a: DOID:4606 ! bile duct cancer [Term] id: DOID:3255 name: botryoid rhabdomyosarcoma subset: NCIthesaurus synonym: "Botryoid sarcoma" EXACT [] synonym: "Botryoid-type Embryonal Rhabdomyosarcoma" EXACT [] synonym: "sarcoma botryoides" EXACT [] xref: NCI:C9150 xref: SNOMEDCT_US_2023_03_01:14269005 xref: UMLS_CUI:C1306573 is_a: DOID:3246 ! embryonal rhabdomyosarcoma [Term] id: DOID:3256 name: obsolete embryonal childhood rhabdomyosarcoma synonym: "pediatric Embryonal Rhabdomyosarcoma" EXACT [] is_obsolete: true [Term] id: DOID:3257 name: obsolete pediatric rhabdomyosarcoma is_obsolete: true [Term] id: DOID:3258 name: orbit embryonal rhabdomyosarcoma def: "An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/] subset: NCIthesaurus synonym: "Embryonal Rhabdomyosarcoma of the orbit" EXACT [] xref: NCI:C6246 xref: UMLS_CUI:C1335127 is_a: DOID:3259 ! orbit rhabdomyosarcoma [Term] id: DOID:3259 name: orbit rhabdomyosarcoma def: "An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children." [url:https\://eyewiki.aao.org/Orbital_Rhabdomyosarcoma, url:https\://link.springer.com/chapter/10.1007/978-1-4613-2029-6_14, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/] subset: NCIthesaurus synonym: "Rhabdomyosarcoma of orbit" EXACT [] synonym: "Rhabdomyosarcoma of the orbit" EXACT [] xref: MESH:C537605 xref: NCI:C4543 xref: SNOMEDCT_US_2023_03_01:254994000 xref: UMLS_CUI:C0346347 is_a: DOID:9987 ! orbit sarcoma [Term] id: DOID:326 name: ischemia def: "A vascular disease that is characterized by a restriction in blood supply to tissues." [url:http\://en.wikipedia.org/wiki/Ischemia] subset: NCIthesaurus xref: MESH:D007511 xref: NCI:C34738 xref: SNOMEDCT_US_2023_03_01:52674009 xref: UMLS_CUI:C0022116 is_a: DOID:178 ! vascular disease [Term] id: DOID:3260 name: spindle cell rhabdomyosarcoma def: "A rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck." [url:https\://pubmed.ncbi.nlm.nih.gov/34958505/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Sclerosing rhabdomyosarcoma" EXACT [] synonym: "Spindle Cell/Sclerosing Rhabdomyosarcoma" EXACT [] synonym: "Synonym Rhabdomyosarcoma, spindle cell/sclerosing type" EXACT [] xref: ICDO:8912/3 xref: NCI:C6519 xref: SNOMEDCT_US_2023_03_01:404055006 xref: UMLS_CUI:C1266134 is_a: DOID:3247 ! rhabdomyosarcoma [Term] id: DOID:3261 name: hyper IgE recurrent infection syndrome 1 def: "A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21." [url:https\://www.ncbi.nlm.nih.gov/books/NBK25507/, url:https\://www.niaid.nih.gov/diseases-conditions/stat3-dominant-negative-disease] comment: nomenclature update Oct 2024 [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "hyperimmunoglobulin E syndrome" EXACT [] synonym: "Job syndrome" EXACT [] synonym: "Job's syndrome" EXACT [] synonym: "STAT3 Hyper IgE syndrome" EXACT [] xref: GARD:6800 xref: MESH:D007589 xref: MIM:147060 xref: NCI:C126342 xref: NCI:C126343 xref: ORDO:2314 xref: UMLS_CUI:C1968689 xref: UMLS_CUI:C2936739 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080545 ! hyper IgE syndrome [Term] id: DOID:3262 name: phagocyte bactericidal dysfunction def: "A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection." [url:http\://en.wikipedia.org/wiki/Phagocyte_bactericidal_dysfunction] synonym: "phagocytic dysfunction" EXACT [] xref: MESH:D010585 xref: UMLS_CUI:C0031306 is_a: DOID:612 ! primary immunodeficiency disease property_value: exactMatch "MESH:D010585" xsd:string [Term] id: DOID:3263 name: piebaldism def: "An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12." [url:https\://pubmed.ncbi.nlm.nih.gov/32975012/, url:https\://www.ncbi.nlm.nih.gov/pubmed/15485525, url:https\://www.ncbi.nlm.nih.gov/pubmed/1717985] comment: This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012). subset: DO_rare_slim subset: NCIthesaurus synonym: "Partial albinism" EXACT [] synonym: "PIEBALD TRAIT" EXACT [] xref: GARD:4344 xref: ICD10CM:E70.39 xref: MESH:D016116 xref: MIM:172800 xref: NCI:C85009 xref: ORDO:2884 xref: SNOMEDCT_US_2023_03_01:718122005 xref: UMLS_CUI:C0080024 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:16 ! integumentary system disease [Term] id: DOID:3264 name: subacute leukemia def: "A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity." [url:http\://www.wrongdiagnosis.com/medical/subacute.htm] xref: ICD9CM:208.2 xref: SNOMEDCT_US_2023_03_01:49432002 xref: UMLS_CUI:C0153924 is_a: DOID:1240 ! leukemia [Term] id: DOID:3265 name: chronic granulomatous disease def: "A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed." [url:http\://en.wikipedia.org/wiki/Chronic_granulomatous_disease, url:https\://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/, url:https\://rarediseases.org/rare-diseases/chronic-granulomatous-disease/, url:https\://www.ncbi.nlm.nih.gov/books/NBK99496/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Bridges-Good syndrome" EXACT [] synonym: "CGD" EXACT OMO:0003012 [] synonym: "Congenital dysphagocytosis" EXACT [] synonym: "Quie syndrome" EXACT [] xref: GARD:6100 xref: ICD10CM:D71 xref: MESH:D006105 xref: MIM:PS306400 xref: NCI:C26788 xref: ORDO:379 xref: SNOMEDCT_US_2023_03_01:11210002 xref: UMLS_CUI:C0018203 is_a: DOID:3262 ! phagocyte bactericidal dysfunction [Term] id: DOID:3267 name: mucinous ovarian cystadenoma def: "An ovarian cystadenoma that is characterized by the presence of mucin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22476372] subset: NCIthesaurus synonym: "mucinous cystadenoma of ovary" EXACT [] synonym: "Ovarian mucinous Cystadenoma" EXACT [] xref: NCI:C4512 xref: SNOMEDCT_US_2023_03_01:119422004 xref: UMLS_CUI:C0346172 is_a: DOID:3269 ! ovarian cystadenoma [Term] id: DOID:3269 name: ovarian cystadenoma def: "An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27244785] subset: NCIthesaurus synonym: "Cystoma Serosum simplex" EXACT [] synonym: "simple cystoma of ovary" EXACT [] synonym: "simple cystoma of the ovary" EXACT [] xref: NCI:C4060 xref: SNOMEDCT_US_2023_03_01:198297004 xref: UMLS_CUI:C0346169 is_a: DOID:0060112 ! ovarian benign neoplasm [Term] id: DOID:327 name: syringomyelia subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7725 xref: MESH:D013595 xref: MIM:186700 xref: NCI:C85179 xref: ORDO:3280 xref: SNOMEDCT_US_2023_03_01:155020007 xref: UMLS_CUI:C0039144 is_a: DOID:319 ! spinal cord disease [Term] id: DOID:3274 name: proliferative type fibrocystic change of breast alt_id: DOID:8101 alt_id: DOID:8112 def: "A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia." [url:https\://pubmed.ncbi.nlm.nih.gov/34967547/] subset: NCIthesaurus synonym: "Fibrocystic change, proliferative type with atypia" EXACT [] synonym: "Fibrocystic disease, Proliferative type with Atypia" EXACT [] synonym: "Proliferating Lesion of breast without Atypia" EXACT [] synonym: "Proliferating Lesion of the breast without Atypia" EXACT [] synonym: "Proliferative Fibrocystic Change" EXACT [] xref: NCI:C8365 xref: SNOMEDCT_US_2023_03_01:35813005 xref: UMLS_CUI:C0334056 is_a: DOID:10354 ! breast fibrocystic disease [Term] id: DOID:3275 name: thymoma def: "A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus." [url:http\://cancergenome.nih.gov/cancersselected/Thymoma, url:http\://en.wikipedia.org/wiki/Thymoma, url:http\://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8580/3 xref: MESH:D013945 xref: NCI:C3411 xref: SNOMEDCT_US_2023_03_01:444231005 xref: UMLS_CUI:C0040100 is_a: DOID:3277 ! thymus cancer [Term] id: DOID:3276 name: obsolete thymus epithelial cancer synonym: "epithelial neoplasm of thymus" RELATED [] synonym: "Thymic epithelial neoplasm (morphologic abnormality)" EXACT [] synonym: "Thymic Epithelium neoplasm" EXACT [] is_obsolete: true [Term] id: DOID:3277 name: thymus cancer alt_id: DOID:10143 def: "An immune system cancer located_in the thymus." [url:http\://en.wikipedia.org/wiki/Thymus] subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "neoplasm of thymus" EXACT [] synonym: "thymic neoplasm" EXACT [] synonym: "Thymic tumor" EXACT [] xref: ICD10CM:C37 xref: ICD9CM:164.0 xref: MESH:D013953 xref: NCI:C4962 xref: SNOMEDCT_US_2023_03_01:94096009 xref: UMLS_CUI:C0751552 is_a: DOID:0060073 ! lymphatic system cancer is_a: DOID:170 ! endocrine gland cancer is_a: DOID:5093 ! thoracic cancer is_a: DOID:533 ! thymus gland disease [Term] id: DOID:3278 name: encapsulated thymoma subset: NCIthesaurus xref: NCI:C7386 xref: UMLS_CUI:C1333383 is_a: DOID:3275 ! thymoma [Term] id: DOID:3279 name: spindle cell thymoma subset: NCIthesaurus synonym: "Medullary Thymoma" EXACT [] synonym: "Thymoma, medullary" EXACT [] xref: NCI:C6454 xref: SNOMEDCT_US_2023_03_01:1144928005 xref: UMLS_CUI:C1266091 is_a: DOID:3275 ! thymoma [Term] id: DOID:3280 name: mixed type thymoma subset: NCIthesaurus synonym: "Thymoma, mixed type" EXACT [] xref: NCI:C6885 xref: SNOMEDCT_US_2023_03_01:1144922006 xref: UMLS_CUI:C1266092 is_a: DOID:3275 ! thymoma [Term] id: DOID:3281 name: combined thymoma is_a: DOID:3275 ! thymoma [Term] id: DOID:3282 name: thymoma type B def: "A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964105/] subset: DO_rare_slim subset: NCIthesaurus synonym: "dendritic cell thymoma" EXACT [] synonym: "epithelioid Thymoma" EXACT [] xref: NCI:C7114 xref: ORDO:263317 xref: SNOMEDCT_US_2023_03_01:1144924007 xref: UMLS_CUI:C1328042 is_a: DOID:3275 ! thymoma [Term] id: DOID:3283 name: invasive malignant thymoma subset: NCIthesaurus synonym: "Infiltrating Thymoma" EXACT [] synonym: "Thymoma malignant Invasive" EXACT [] xref: NCI:C6453 xref: UMLS_CUI:C0278846 is_a: DOID:3275 ! thymoma [Term] id: DOID:3284 name: thymic carcinoma def: "A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1] subset: DO_cancer_slim subset: NCIthesaurus synonym: "malignant Thymoma" EXACT [] synonym: "Thymoma, malignant" EXACT [] xref: ICDO:8586/3 xref: MESH:D013945 xref: NCI:C7569 xref: SNOMEDCT_US_2023_03_01:128717008 xref: UMLS_CUI:C0205969 is_a: DOID:305 ! carcinoma is_a: DOID:3277 ! thymus cancer [Term] id: DOID:3292 name: mpox def: "A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus, which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy." [url:http\://www.cdc.gov/ncidod/monkeypox/factsheet2.htm, url:https\://www.who.int/news/item/28-11-2022-who-recommends-new-name-for-monkeypox-disease] comment: November 2022 WHO name update. subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "monkeypox" EXACT [] xref: GARD:10722 xref: ICD10CM:B04 xref: ICD9CM:059.01 xref: MESH:D045908 xref: NCI:C128421 xref: SNOMEDCT_US_2023_03_01:240466002 xref: UMLS_CUI:C0276180 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:3293 name: obsolete lumpy skin disease def: "A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/lumpy_skin_disease.pdf] is_obsolete: true [Term] id: DOID:3295 name: obsolete fowlpox def: "A viral infectious disease results_in infection located_in skin, or located_in mucous membranes of the mouth, oesophagus, larynx or trachea of birds, has_material_basis_in Fowlpox virus, has_symptom lesions on the skin, has_symptom diphtheritic lesions in the upper parts of the digestive and respiratory tracts." [url:http\://www.oie.int/eng/normes/mmanual/2008/pdf/2.03.10_FOWLPOX.pdf] is_obsolete: true [Term] id: DOID:3296 name: obsolete infectious ectromelia def: "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." [url:http\://books.google.com/books?id=I62ZO_-4cjwC&pg=PA186&lpg, url:http\://www.virologyj.com/content/6/1/151] synonym: "Mousepox (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:3297 name: obsolete infectious myxomatosis def: "A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties." [url:http\://books.google.com/books?id=Qz-3V6_TatUC&pg=PA177&lpg=PA177&dq#v=onepage&q&f=false] is_obsolete: true [Term] id: DOID:3298 name: vaccinia def: "A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches." [url:http\://en.wikipedia.org/wiki/Vaccinia, url:https\://www.cdc.gov/smallpox/clinicians/vaccines.html] subset: DO_infectious_disease_slim xref: MESH:D014615 xref: SNOMEDCT_US_2023_03_01:111852003 xref: UMLS_CUI:C0042214 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:3299 name: obsolete Yersinia pseudotuberculosis infectious disease subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Pasteurella pseudotuberculosis infection" EXACT [] synonym: "Pseudotuberculosis" EXACT [] synonym: "Pseudotuberculosis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:3300 name: obsolete Yersinia infectious disease subset: gram-negative_bacterial_infectious_disease synonym: "Yersiniosis (disorder)" EXACT [] synonym: "Yersiniosis [Ambiguous]" EXACT [] is_obsolete: true [Term] id: DOID:3301 name: gonadoblastoma def: "A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells)." [url:http\://en.wikipedia.org/wiki/Gonadoblastoma] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9073/1 xref: MESH:D018238 xref: MIM:424500 xref: NCI:C3754 xref: SNOMEDCT_US_2023_03_01:74751003 xref: UMLS_CUI:C0206661 is_a: DOID:0060084 ! cell type benign neoplasm [Term] id: DOID:3302 name: chordoma def: "A notochordal cancer that derives_from cellular remnants of the notochord." [url:http\://en.wikipedia.org/wiki/Chordoma] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "notochordoma" EXACT [] xref: GARD:1303 xref: ICDO:9370/3 xref: MESH:D002817 xref: NCI:C2947 xref: SNOMEDCT_US_2023_03_01:50007008 xref: UMLS_CUI:C0008487 is_a: DOID:3303 ! notochordal cancer [Term] id: DOID:3303 name: notochordal cancer def: "An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord." [url:http\://en.wikipedia.org/wiki/Notochord] subset: NCIthesaurus synonym: "notochordal tumor" RELATED [] xref: NCI:C7063 xref: UMLS_CUI:C1335069 is_a: DOID:184 ! bone cancer [Term] id: DOID:3304 name: germinoma def: "A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain." [url:http\://en.wikipedia.org/wiki/Germinoma, url:https\://en.wikipedia.org/wiki/Germinoma] subset: DO_cancer_slim xref: ICDO:9064/3 xref: MESH:D018237 xref: SNOMEDCT_US_2023_03_01:154603000 xref: UMLS_CUI:C0206660 is_a: DOID:2994 ! germ cell cancer [Term] id: DOID:3305 name: teratocarcinoma def: "A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both." [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed] subset: DO_cancer_slim subset: NCIthesaurus synonym: "mixed Embryonal carcinoma and teratoma" EXACT [] xref: ICDO:9081/3 xref: MESH:D018243 xref: NCI:C3756 xref: SNOMEDCT_US_2023_03_01:67830002 xref: UMLS_CUI:C0206664 is_a: DOID:3095 ! germ cell and embryonal cancer [Term] id: DOID:3306 name: mixed germ cell cancer def: "A germ cell cancer that occurs in many forms." [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed] subset: DO_cancer_slim subset: NCIthesaurus synonym: "mixed germ cell neoplasm" EXACT [] synonym: "mixed germ cell tumor" EXACT [] synonym: "mixed germ cell tumour" EXACT [] synonym: "mixed teratoma and seminoma" EXACT [] xref: ICDO:9085/3 xref: NCI:C4290 xref: SNOMEDCT_US_2023_03_01:189853002 xref: UMLS_CUI:C0334524 is_a: DOID:2994 ! germ cell cancer [Term] id: DOID:3307 name: teratoma def: "A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers." [url:http\://en.wikipedia.org/wiki/Teratoma] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9080/3 xref: MESH:D013724 xref: NCI:C3403 xref: SNOMEDCT_US_2023_03_01:36591000119102 xref: UMLS_CUI:C0039538 is_a: DOID:3095 ! germ cell and embryonal cancer [Term] id: DOID:3308 name: embryonal carcinoma alt_id: DOID:5676 def: "An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes." [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "primary extragonadal embryonal carcinoma" EXACT [] xref: GARD:5140 xref: ICDO:9070/3 xref: MESH:D018236 xref: NCI:C3752 xref: NCI:C8880 xref: SNOMEDCT_US_2023_03_01:1156454002 xref: UMLS_CUI:C0206659 xref: UMLS_CUI:C0855159 is_a: DOID:305 ! carcinoma is_a: DOID:688 ! embryonal cancer [Term] id: DOID:3309 name: neurodermatitis def: "A dermatitis that is characterized by chronic itching or scaling." [url:https\://www.mayoclinic.org/diseases-conditions/neurodermatitis/symptoms-causes/syc-20375634] subset: NCIthesaurus xref: MESH:D009450 xref: NCI:C111963 xref: SNOMEDCT_US_2023_03_01:156383005 xref: UMLS_CUI:C0027822 is_a: DOID:2723 ! dermatitis [Term] id: DOID:331 name: central nervous system disease def: "A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system." [url:http\://en.wikipedia.org/wiki/Central_nervous_system_disease] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: NCIthesaurus xref: ICD10CM:G96.9 xref: MESH:D002493 xref: NCI:C2934 xref: SNOMEDCT_US_2023_03_01:267144009 xref: UMLS_CUI:C0007682 is_a: DOID:863 ! nervous system disease [Term] id: DOID:3310 name: atopic dermatitis def: "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking." [url:http\://en.wikipedia.org/wiki/Atopic_dermatitis] {comment="ls:IEDB"} comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. synonym: "allergic dermatitis" EXACT [] synonym: "atopic eczema" EXACT [] synonym: "Atopic neurodermatitis" EXACT [] synonym: "Besnier's prurigo" EXACT [] xref: EFO:0000274 xref: ICD10CM:L20 xref: MESH:D003876 xref: MIM:603165 xref: MIM:PS603165 xref: SNOMEDCT_US_2023_03_01:156331003 xref: UMLS_CUI:C0011615 is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:3312 name: bipolar disorder alt_id: DOID:3311 alt_id: DOID:9554 alt_id: DOID:9555 def: "A mood disorder that involves alternating periods of mania and depression." [url:http\://en.wikipedia.org/wiki/Mood_disorder] subset: DO_rare_slim subset: NCIthesaurus synonym: "bipolar depression" EXACT [] synonym: "bipolar disorder manic phase" EXACT [] synonym: "Depressive-manic psych." RELATED [] synonym: "Manic Bipolar Affective disorder" EXACT [] synonym: "Manic bipolar I disorder" EXACT [] synonym: "manic depression" EXACT [] synonym: "Manic Depressive disorder" EXACT [] synonym: "manic disorder" EXACT [] synonym: "mixed bipolar disorder" EXACT [] xref: GARD:10249 xref: ICD10CM:F31 xref: ICD9CM:296.40 xref: ICD9CM:296.60 xref: ICD9CM:296.80 xref: MESH:D001714 xref: NCI:C34423 xref: NCI:C34424 xref: NCI:C34805 xref: SNOMEDCT_US_2023_03_01:16506000 xref: SNOMEDCT_US_2023_03_01:191627008 xref: SNOMEDCT_US_2023_03_01:192355004 xref: SNOMEDCT_US_2023_03_01:68569003 xref: UMLS_CUI:C0005586 xref: UMLS_CUI:C0005587 xref: UMLS_CUI:C0024713 xref: UMLS_CUI:C0236780 is_a: DOID:3324 ! mood disorder [Term] id: DOID:3314 name: angiomyolipoma def: "A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells." [url:http\://en.wikipedia.org/wiki/Angiomyolipoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/9503504] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8860/0 xref: MESH:D018207 xref: NCI:C3734 xref: SNOMEDCT_US_2023_03_01:19929002 xref: UMLS_CUI:C0206633 is_a: DOID:0060084 ! cell type benign neoplasm property_value: exactMatch "MESH:D018207" xsd:string [Term] id: DOID:3315 name: lipoma alt_id: DOID:3154 alt_id: DOID:9291 def: "A cell type benign neoplasm that is composed of lipocytes." [url:http\://en.wikipedia.org/wiki/Benign_tumor] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: NCIthesaurus synonym: "benign lipomatous tumor" EXACT [] synonym: "benign tumor of Adipose tissue" EXACT [] synonym: "Lipomatous neoplasm" EXACT [] synonym: "Lipomatous tumor" EXACT [] synonym: "multiple lipomatosis" RELATED [] synonym: "tumor of adipose tissue" EXACT [] xref: ICD10CM:D17 xref: ICD10CM:D17.9 xref: ICD9CM:214 xref: ICDO:8850/0 xref: MESH:D008067 xref: MESH:D018205 xref: NCI:C3192 xref: NCI:C4248 xref: NCI:C4502 xref: SNOMEDCT_US_2023_03_01:115227001 xref: SNOMEDCT_US_2023_03_01:154612003 xref: SNOMEDCT_US_2023_03_01:254830006 xref: UMLS_CUI:C0023798 xref: UMLS_CUI:C0206631 xref: UMLS_CUI:C0346118 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:0060123 ! connective tissue benign neoplasm [Term] id: DOID:3316 name: perivascular tumor alt_id: DOID:5234 subset: NCIthesaurus synonym: "malignant perivascular cancer" EXACT [] xref: NCI:C6528 xref: NCI:C6530 xref: UMLS_CUI:C1334611 xref: UMLS_CUI:C1335392 is_a: DOID:175 ! vascular cancer is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:3317 name: hepatic angiomyolipoma subset: NCIthesaurus xref: NCI:C27485 xref: SNOMEDCT_US_2023_03_01:1196904007 xref: UMLS_CUI:C1333962 is_a: DOID:916 ! liver benign neoplasm [Term] id: DOID:3318 name: epithelioid type angiomyolipoma subset: NCIthesaurus synonym: "Epithelioid angiomyolipoma" EXACT [] xref: NCI:C38151 xref: SNOMEDCT_US_2021_09_01:733836008 is_a: DOID:3314 ! angiomyolipoma [Term] id: DOID:3319 name: lymphangioleiomyomatosis alt_id: DOID:3682 def: "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas." [url:https\://pubmed.ncbi.nlm.nih.gov/31610670/] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "lung lymphangioleiomyomatosis" EXACT [] synonym: "lymphangiomyomatosis" EXACT [] synonym: "pulmonary lymphangioleiomyomatosis" EXACT [] xref: GARD:3319 xref: ICDO:9174/1 xref: MIM:606690 xref: NCI:C38153 xref: ORDO:538 xref: SNOMEDCT_US_2023_03_01:277844007 xref: UMLS_CUI:C0349649 is_a: DOID:850 ! lung disease property_value: exactMatch "MESH:D018192" xsd:string [Term] id: DOID:332 name: amyotrophic lateral sclerosis def: "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing." [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm] subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "ALS" EXACT OMO:0003012 [] synonym: "Lou Gehrig's disease" EXACT [] synonym: "motor neuron disease, bulbar" EXACT [] xref: GARD:5786 xref: ICD10CM:G12.21 xref: ICD9CM:335.20 xref: KEGG:05014 xref: MESH:D000690 xref: MIM:PS105400 xref: NCI:C34373 xref: ORDO:803 xref: SNOMEDCT_US_2023_03_01:86044005 xref: UMLS_CUI:C0002736 is_a: DOID:231 ! motor neuron disease property_value: exactMatch "MESH:D000690" xsd:string [Term] id: DOID:3320 name: Tay-Sachs disease def: "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23." [url:https\://medlineplus.gov/genetics/condition/tay-sachs-disease/, url:https\://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease, url:https\://www.ncbi.nlm.nih.gov/books/NBK1218/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_childhood_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "GM2 gangliosidosis, type 1" EXACT [] synonym: "hexosaminidase A deficiency" EXACT [] xref: GARD:7737 xref: ICD10CM:E75.02 xref: MESH:D013661 xref: MIM:272800 xref: NCI:C85184 xref: SNOMEDCT_US_2023_03_01:111385000 xref: UMLS_CUI:C0039373 is_a: DOID:3321 ! GM2 gangliosidosis [Term] id: DOID:3321 name: GM2 gangliosidosis def: "A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes." [url:https\://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant] synonym: "gangliosidosis GM2" EXACT [] xref: ICD10CM:E75.0 xref: MESH:D020143 xref: SNOMEDCT_US_2023_03_01:33316007 xref: UMLS_CUI:C0268274 is_a: DOID:2368 ! gangliosidosis [Term] id: DOID:3322 name: GM1 gangliosidosis def: "A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside." [url:https\://ghr.nlm.nih.gov/condition/gm1-gangliosidosis] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Beta-galactosidase deficiency" EXACT [] synonym: "deficiency of beta-galactosidase" EXACT [] synonym: "gangliosidosis GM1" EXACT [] xref: GARD:10891 xref: ICD10CM:E75.19 xref: MESH:D016537 xref: NCI:C84739 xref: SNOMEDCT_US_2023_03_01:32917001 xref: UMLS_CUI:C0085131 is_a: DOID:2368 ! gangliosidosis [Term] id: DOID:3323 name: Sandhoff disease def: "A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13." [url:https\://ghr.nlm.nih.gov/condition/sandhoff-disease] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Sandhoff Jatzkewitz disease" EXACT [] xref: GARD:7604 xref: ICD10CM:E75.01 xref: MESH:D012497 xref: MIM:268800 xref: NCI:C85052 xref: SNOMEDCT_US_2023_03_01:23849003 xref: UMLS_CUI:C0036161 is_a: DOID:3321 ! GM2 gangliosidosis property_value: exactMatch "MESH:D012497" xsd:string [Term] id: DOID:3324 name: mood disorder def: "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature." [url:https\://en.wikipedia.org/wiki/Mood_disorder] comment: Updating outdated UMLS CUI. subset: NCIthesaurus synonym: "episodic mood disorder" EXACT [] xref: EFO:0004247 xref: ICD10CM:F39 xref: MESH:D019964 xref: NCI:C92200 xref: SNOMEDCT_US_2023_03_01:46206005 xref: UMLS_CUI:C0525045 is_a: DOID:1561 ! cognitive disorder [Term] id: DOID:3325 name: hyperglobulinemic purpura xref: MESH:D011694 xref: SNOMEDCT_US_2023_03_01:402852007 xref: UMLS_CUI:C0034151 is_a: DOID:3326 ! purpura [Term] id: DOID:3326 name: purpura subset: NCIthesaurus synonym: "Purpuric disorder" EXACT [] xref: ICD10CM:D69.2 xref: MESH:D011693 xref: NCI:C78787 xref: SNOMEDCT_US_2023_03_01:423902002 xref: UMLS_CUI:C0034150 is_a: DOID:2213 ! hemorrhagic disease property_value: exactMatch "MESH:D011693" xsd:string [Term] id: DOID:3327 name: partial motor epilepsy subset: NCIthesaurus synonym: "epilepsy, focal motor" EXACT [] synonym: "Focal motor seizure" EXACT [] xref: MESH:D020938 xref: NCI:C50847 xref: SNOMEDCT_US_2023_03_01:128612007 xref: UMLS_CUI:C0016399 is_a: DOID:2234 ! focal epilepsy [Term] id: DOID:3328 name: temporal lobe epilepsy def: "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes." [url:https\://en.wikipedia.org/wiki/Temporal_lobe_epilepsy] subset: NCIthesaurus synonym: "epilepsy, temporal lobe" EXACT [] xref: MESH:D004833 xref: MIM:PS600512 xref: NCI:C177244 xref: SNOMEDCT_US_2023_03_01:84340007 xref: UMLS_CUI:C0014556 is_a: DOID:2234 ! focal epilepsy [Term] id: DOID:3329 name: benign epilepsy with centrotemporal spikes def: "A childhood electroclinical syndrome characterized by partial seizures involving the rolandic area of the brain and electroencephalographic centrotemporal sharp waves." [url:https\://pubmed.ncbi.nlm.nih.gov/19172991/, url:https\://www.ncbi.nlm.nih.gov/books/NBK534845/] subset: DO_childhood_cancer_slim subset: DO_rare_slim synonym: "BCECTS" EXACT OMO:0003012 [] synonym: "benign childhood epilepsy with centrotemporal spike" EXACT [] synonym: "benign Rolandic epilepsy" EXACT [] synonym: "rolandic epilepsy" EXACT [] synonym: "sylvan seizures" EXACT [] xref: GARD:10287 xref: MESH:D019305 xref: MIM:117100 xref: ORDO:1945 xref: UMLS_CUI:C0376532 is_a: DOID:0050704 ! childhood electroclinical syndrome [Term] id: DOID:333 name: obsolete chronic factitious illness with physical symptoms is_obsolete: true [Term] id: DOID:3330 name: partial sensory epilepsy xref: MESH:D020937 xref: UMLS_CUI:C0752322 is_a: DOID:2234 ! focal epilepsy [Term] id: DOID:3331 name: frontal lobe epilepsy def: "A focal epilepsy that is characterized by recurring seizures that affect one hemisphere of the brain." [url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/epilepsy/focal-epilepsy] xref: MESH:D017034 xref: SNOMEDCT_US_2023_03_01:230394006 xref: UMLS_CUI:C0085541 is_a: DOID:2234 ! focal epilepsy [Term] id: DOID:3332 name: haemonchiasis def: "A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue." [url:http\://en.wikipedia.org/wiki/Haemonchus_contortus] subset: DO_infectious_disease_slim xref: MESH:D006188 xref: UMLS_CUI:C0018477 is_a: DOID:1255 ! trichostrongyloidiasis [Term] id: DOID:334 name: histrionic personality disorder def: "A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood." [url:http\://en.wikipedia.org/wiki/Histrionic_personality_disorder] subset: NCIthesaurus xref: ICD10CM:F60.4 xref: ICD9CM:301.5 xref: MESH:D006677 xref: NCI:C92634 xref: SNOMEDCT_US_2023_03_01:192489002 xref: UMLS_CUI:C0019681 is_a: DOID:1510 ! personality disorder [Term] id: DOID:3340 name: obsolete lymphangioendothelioma synonym: "lymphangioendothelioma" EXACT [] synonym: "Lymphangioendothelioma, NOS" EXACT [] is_obsolete: true [Term] id: DOID:3341 name: osteitis fibrosa def: "A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone." [url:http\://en.wikipedia.org/wiki/Osteitis_fibrosa_cystica, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001252.htm] subset: NCIthesaurus synonym: "hyperparathyroid bone disease" EXACT [] synonym: "Osteitis fibrosa cystica generalisata" EXACT [] synonym: "Von Recklinghausen's bone disease" EXACT [] xref: MESH:D010002 xref: NCI:C34875 xref: SNOMEDCT_US_2023_03_01:190451000 xref: UMLS_CUI:C0029405 is_a: DOID:0080011 ! bone resorption disease [Term] id: DOID:3342 name: bone inflammation disease def: "A bone disease that results_in inflammation of the located_in bone." [url:http\://en.wikipedia.org/wiki/Osteitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Osteitis] synonym: "bone inflammatory disease" EXACT [] synonym: "Inflammatory disorder of bone" EXACT [] synonym: "osteitis" EXACT [] xref: MESH:D010000 xref: SNOMEDCT_US_2023_03_01:274144001 xref: UMLS_CUI:C0029400 is_a: DOID:0080001 ! bone disease [Term] id: DOID:3343 name: glycoproteinosis def: "A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase)." [url:http\://en.wikipedia.org/wiki/Sialidosis, url:https\://en.wikipedia.org/wiki/Glycoproteinosis, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract] comment: OMIM mapping submitted by NeuroDevNet. [LS]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Mucolipidosis type I" EXACT [] synonym: "sialidosis" EXACT [] xref: GARD:10670 xref: MESH:D009081 xref: MIM:256550 xref: NCI:C61267 xref: SNOMEDCT_US_2023_03_01:70528007 xref: UMLS_CUI:C0026697 is_a: DOID:0080488 ! mucolipidosis [Term] id: DOID:3345 name: xanthomatosis def: "A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts." [url:http\://en.wikipedia.org/wiki/Xanthoma] synonym: "xanthelasmatosis" EXACT [] xref: MESH:D014973 xref: SNOMEDCT_US_2023_03_01:63103006 xref: UMLS_CUI:C0043325 is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:3347 name: osteosarcoma alt_id: DOID:183 def: "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus)." [url:http\://en.wikipedia.org/wiki/Osteosarcoma, url:http\://www.cancer.gov/dictionary?cdrid=45395] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "bone tissue neoplasm" EXACT [] synonym: "Osteogenic sarcoma" EXACT [] synonym: "osteoid sarcoma" EXACT [] synonym: "Skeletal sarcoma" EXACT [] xref: GARD:7284 xref: ICDO:9180/3 xref: MESH:D012516 xref: MESH:D018213 xref: MIM:259500 xref: NCI:C9145 xref: ORDO:668 xref: SNOMEDCT_US_2023_03_01:189878003 xref: UMLS_CUI:C0029463 xref: UMLS_CUI:C0206639 is_a: DOID:0080639 ! bone sarcoma [Term] id: DOID:3349 name: obsolete osteogenic neoplasm synonym: "Osteogenic tumor" EXACT [] is_obsolete: true [Term] id: DOID:3350 name: mesenchymal cell neoplasm alt_id: DOID:1630 def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system." [url:http\://en.wikipedia.org/wiki/Mesenchymal_cell, url:http\://www.ncbi.nlm.nih.gov/books/NBK9549/] subset: NCIthesaurus synonym: "benign miscellaneous mesenchymal tumor" EXACT [] synonym: "mesenchymal tumor" EXACT [] xref: NCI:C6587 xref: NCI:C7059 xref: UMLS_CUI:C1332517 xref: UMLS_CUI:C1334699 is_a: DOID:0050687 ! cell type cancer [Term] id: DOID:3351 name: bone angioendothelial sarcoma subset: NCIthesaurus synonym: "osseous hemangiosarcoma" EXACT [] xref: NCI:C6479 xref: UMLS_CUI:C1332574 is_a: DOID:0080639 ! bone sarcoma [Term] id: DOID:3352 name: malignant fibrous histiocytoma of bone subset: NCIthesaurus synonym: "malignant fibrous Histiocytoma of the bone" EXACT [] xref: NCI:C8563 xref: UMLS_CUI:C0740479 is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:3354 name: fibrosarcoma of bone def: "A bone sarcoma characterized by a herringbone or fascicular disposition of atypical, monomorphic fibroblasts and is always negative for any specific marker." [url:https\://link.springer.com/chapter/10.1007/978-1-4471-6578-1_29, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732833/, url:https\://www.orthobullets.com/pathology/8031/fibrosarcoma-of-bone] synonym: "malignant fibroxanthoma" EXACT [] synonym: "malignant histiocytosis" EXACT [] is_a: DOID:0080639 ! bone sarcoma [Term] id: DOID:3355 name: fibrosarcoma alt_id: DOID:156 alt_id: DOID:3509 def: "A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern." [url:http\://en.wikipedia.org/wiki/Fibrosarcoma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Fibrocytic tumor" EXACT [] synonym: "fibrosarcoma of soft tissue" EXACT [] synonym: "fibrous tissue neoplasm" EXACT [] xref: GARD:2327 xref: ICDO:8810/3 xref: MESH:D005354 xref: MESH:D018218 xref: NCI:C3043 xref: NCI:C6605 xref: NCI:C7075 xref: SNOMEDCT_US_2023_03_01:443250000 xref: UMLS_CUI:C0016057 xref: UMLS_CUI:C0206643 xref: UMLS_CUI:C1336021 is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:3356 name: localized osteosarcoma def: "An osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites." [url:https\://www.cancer.org/cancer/types/osteosarcoma/detection-diagnosis-staging/staging.html] subset: NCIthesaurus synonym: "localised Osteogenic sarcoma" EXACT [] synonym: "localised osteosarcoma" EXACT [] synonym: "localized Osteogenic sarcoma" EXACT [] xref: NCI:C7780 xref: UMLS_CUI:C0278511 is_a: DOID:3347 ! osteosarcoma [Term] id: DOID:3357 name: extraosseous osteosarcoma def: "An osteosarcoma arising from the soft tissue." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4080674/] subset: NCIthesaurus synonym: "extraskeletal Osteogenic sarcoma" EXACT [] synonym: "extraskeletal osteosarcoma" EXACT [] xref: NCI:C8810 xref: SNOMEDCT_US_2023_03_01:404077005 xref: UMLS_CUI:C0855052 is_a: DOID:3347 ! osteosarcoma [Term] id: DOID:3359 name: obsolete malignant extraskeletal cartilaginous and osseous tumor is_obsolete: true [Term] id: DOID:336 name: obsolete non-traumatic tendon rupture alt_id: DOID:13772 alt_id: DOID:14160 alt_id: DOID:14337 alt_id: DOID:9887 synonym: "Nontraumatic rupture of extensor tendons of hand and wrist" EXACT [] synonym: "Nontraumatic rupture of flexor tendons of hand and wrist" EXACT [] synonym: "Nontraumatic rupture of quadriceps tendon" EXACT [] synonym: "Nontraumatic rupture of tendons of biceps" EXACT [] synonym: "Nontraumatic rupture of tendons of biceps (long head)" EXACT [] synonym: "Nontraumatic rupture of tendons of biceps, long head" EXACT [] is_obsolete: true [Term] id: DOID:3360 name: multifocal osteogenic sarcoma subset: NCIthesaurus xref: NCI:C6470 xref: SNOMEDCT_US_2023_03_01:431371000124105 xref: UMLS_CUI:C1334820 is_a: DOID:0080639 ! bone sarcoma [Term] id: DOID:3361 name: childhood osteosarcoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric osteosarcoma" EXACT [] xref: NCI:C6585 xref: UMLS_CUI:C1332986 is_a: DOID:3347 ! osteosarcoma [Term] id: DOID:3362 name: coronary aneurysm subset: DO_rare_slim subset: NCIthesaurus synonym: "Aneurysm of coronary vessels" EXACT [] synonym: "Aneurysmal lesion of coronary artery" EXACT [] synonym: "Arteriovenous aneurysm of coronary vessels" EXACT [] xref: GARD:6200 xref: ICD10CM:I25.41 xref: ICD9CM:414.11 xref: MESH:D003323 xref: NCI:C168176 xref: SNOMEDCT_US_2023_03_01:50570003 xref: UMLS_CUI:C0010051 is_a: DOID:9768 ! heart aneurysm [Term] id: DOID:3365 name: obsolete recurrent osteosarcoma synonym: "relapsed Osteosarcoma" EXACT [] is_obsolete: true [Term] id: DOID:3367 name: bone leiomyosarcoma subset: NCIthesaurus xref: NCI:C7154 xref: UMLS_CUI:C1332579 is_a: DOID:1967 ! leiomyosarcoma [Term] id: DOID:3368 name: Ewing sarcoma of bone alt_id: DOID:4984 alt_id: DOID:6392 def: "A peripheral primitive neuroectodermal tumor that is located_in bone." [url:http\://en.wikipedia.org/wiki/Ewing%27s_sarcoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "bone Ewing sarcoma" EXACT [] synonym: "bone Ewing's sarcoma" RELATED [] synonym: "bone localized Ewing sarcoma" EXACT [] synonym: "bone localized Ewing's sarcoma" EXACT [] synonym: "Ewing's sarcoma of bone" RELATED [] synonym: "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor" EXACT [] synonym: "localized Skeletal Ewing's sarcoma" EXACT [] xref: NCI:C35871 xref: NCI:C4835 xref: NCI:C6623 xref: SNOMEDCT_US_2023_03_01:307608006 xref: UMLS_CUI:C0585474 xref: UMLS_CUI:C1333481 xref: UMLS_CUI:C1334406 is_a: DOID:184 ! bone cancer is_a: DOID:3369 ! Ewing sarcoma [Term] id: DOID:3369 name: Ewing sarcoma alt_id: DOID:0050607 alt_id: DOID:4158 alt_id: DOID:4390 alt_id: DOID:4391 alt_id: DOID:4392 alt_id: DOID:4980 def: "A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm." [url:http\://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor, url:http\://www.cancer.gov/dictionary?cdrid=383924] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Ewing's family localized tumor" EXACT [] synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [] synonym: "Ewing's tumor" EXACT [] synonym: "Ewings sarcoma" EXACT [] synonym: "Ewings sarcoma-primitive neuroectodermal tumor" EXACT [] synonym: "localized Ewing sarcoma" EXACT [] synonym: "localized Ewing's sarcoma" EXACT [] synonym: "localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [] synonym: "localized Ewing's tumor" EXACT [] synonym: "localized peripheral primitive neuroectodermal tumor" EXACT [] synonym: "peripheral primitive neuroectodermal tumor" EXACT [] synonym: "PNET of Thoracopulmonary Region" EXACT [] xref: GARD:6390 xref: ICDO:9364/3 xref: MESH:C563168 xref: MESH:D012512 xref: MESH:D018241 xref: MIM:612219 xref: NCI:C27901 xref: NCI:C27903 xref: NCI:C4817 xref: NCI:C7542 xref: NCI:C7806 xref: NCI:C9341 xref: SNOMEDCT_US_2023_03_01:134210007 xref: SNOMEDCT_US_2023_03_01:73676002 xref: SNOMEDCT_US_2023_03_01:76909002 xref: UMLS_CUI:C0553580 xref: UMLS_CUI:C0684337 xref: UMLS_CUI:C0796547 xref: UMLS_CUI:C0863029 xref: UMLS_CUI:C0877849 xref: UMLS_CUI:C1334408 is_a: DOID:1115 ! sarcoma is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:337 name: spinal accessory nerve neoplasm subset: NCIthesaurus synonym: "neoplasm of accessory nerve" EXACT [] synonym: "XIth Cranial nerve tumors" EXACT [] xref: NCI:C5829 xref: SNOMEDCT_US_2023_03_01:126977003 xref: UMLS_CUI:C1263902 is_a: DOID:2815 ! cranial nerve malignant neoplasm [Term] id: DOID:3371 name: chondrosarcoma alt_id: DOID:3370 def: "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage." [url:http\://en.wikipedia.org/wiki/Chondrosarcoma] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Cartilaginous cancer" EXACT [] synonym: "chondrosarcoma of bone" EXACT [] synonym: "primary chondrosarcoma of the bone" EXACT [] xref: GARD:6004 xref: GARD:6055 xref: ICDO:9220/3 xref: MESH:D002813 xref: MIM:215300 xref: NCI:C2946 xref: NCI:C7155 xref: SNOMEDCT_US_2023_03_01:443520009 xref: SNOMEDCT_US_2023_03_01:735679005 xref: UMLS_CUI:C0008479 xref: UMLS_CUI:C1335473 is_a: DOID:0080639 ! bone sarcoma [Term] id: DOID:3372 name: chondroblastic osteosarcoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "chondrosarcomatous Osteogenic sarcoma" EXACT [] xref: ICDO:9181/3 xref: NCI:C4021 xref: SNOMEDCT_US_2023_03_01:76312009 xref: UMLS_CUI:C0279603 is_a: DOID:3347 ! osteosarcoma [Term] id: DOID:3373 name: parosteal osteosarcoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "juxtacortical osteosarcoma" EXACT [] synonym: "Parosteal Osteogenic sarcoma" EXACT [] xref: ICDO:9192/3 xref: MESH:D018217 xref: NCI:C8969 xref: SNOMEDCT_US_2023_03_01:91242000 xref: UMLS_CUI:C0206642 is_a: DOID:3374 ! peripheral osteosarcoma [Term] id: DOID:3374 name: peripheral osteosarcoma subset: NCIthesaurus synonym: "Surface Osteosarcoma" EXACT [] xref: NCI:C7134 xref: UMLS_CUI:C1332591 is_a: DOID:3376 ! bone osteosarcoma [Term] id: DOID:3376 name: bone osteosarcoma alt_id: DOID:8580 def: "An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs." [url:https\://my.clevelandclinic.org/health/diseases/15041-osteosarcoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Osteosarcoma of bone" EXACT [] synonym: "primary Osteosarcoma of bone" EXACT [] xref: NCI:C53707 xref: SNOMEDCT_US_2023_03_01:307576001 xref: UMLS_CUI:C0585442 is_a: DOID:3347 ! osteosarcoma [Term] id: DOID:3377 name: small cell osteogenic sarcoma subset: NCIthesaurus synonym: "Round cell osteosarcoma" EXACT [] synonym: "small cell Osteosarcoma" EXACT [] xref: NCI:C4023 xref: SNOMEDCT_US_2023_03_01:12302002 xref: UMLS_CUI:C0279622 is_a: DOID:7602 ! conventional osteosarcoma [Term] id: DOID:3378 name: obsolete conventional central osteosarcoma is_obsolete: true [Term] id: DOID:3379 name: metachronous osteosarcoma of the bone subset: NCIthesaurus xref: NCI:C38157 xref: UMLS_CUI:C1334704 is_a: DOID:3347 ! osteosarcoma [Term] id: DOID:338 name: obsolete cranial nerve neoplasm def: "A central nervous system cancer develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells." [url:https\://en.wikipedia.org/wiki/Schwannoma, url:https\://link.springer.com/chapter/10.1007/978-3-642-02874-8_15] synonym: "neoplasm of cranial nerve" EXACT [] is_obsolete: true [Term] id: DOID:3381 name: liposarcoma of bone subset: NCIthesaurus synonym: "Liposarcoma of the bone" EXACT [] xref: NCI:C7598 xref: UMLS_CUI:C1332581 is_a: DOID:184 ! bone cancer [Term] id: DOID:3382 name: liposarcoma alt_id: DOID:3939 def: "A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities." [url:http\://en.wikipedia.org/wiki/Liposarcoma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "lipomatous cancer" EXACT [] xref: GARD:6913 xref: ICDO:8850/3 xref: MESH:D008080 xref: NCI:C3194 xref: SNOMEDCT_US_2023_03_01:254829001 xref: UMLS_CUI:C0023827 is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:3384 name: obsolete metastatic osteosarcoma synonym: "metastatic Osteogenic sarcoma" EXACT [] is_obsolete: true [Term] id: DOID:3385 name: bacterial vaginosis def: "A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bacterial+vaginosis] subset: DO_infectious_disease_slim subset: NCIthesaurus xref: MESH:D016585 xref: NCI:C116973 xref: SNOMEDCT_US_2023_03_01:237092002 xref: UMLS_CUI:C0085166 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:2170 ! vaginitis [Term] id: DOID:3388 name: periodontal disease def: "A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth." [url:https\://www.nidcr.nih.gov/health-info/gum-disease/more-info] subset: NCIthesaurus synonym: "disease of supporting structures of teeth" EXACT [] synonym: "periodontium disorder" EXACT [] xref: ICD10CM:K05.6 xref: MESH:D010510 xref: NCI:C63743 xref: SNOMEDCT_US_2023_03_01:196354003 xref: UMLS_CUI:C0031090 is_a: DOID:403 ! mouth disease [Term] id: DOID:3389 name: Papillon-Lefevre disease def: "An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14." [url:https\://en.wikipedia.org/wiki/Papillon–Lefevre_syndrome, url:https\://www.ncbi.nlm.nih.gov/articles/PMC4507741/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Papillon Lefevre syndrome" EXACT [] synonym: "Papillon-Lefvre syndrome" EXACT [] xref: GARD:3100 xref: MESH:D010214 xref: MIM:245000 xref: NCI:C84992 xref: ORDO:678 xref: SNOMEDCT_US_2023_03_01:40158001 xref: UMLS_CUI:C0030360 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1091 ! tooth disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:339 name: accessory nerve disease def: "A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve)." [url:https\://en.wikipedia.org/wiki/Accessory_nerve_disorder] subset: NCIthesaurus synonym: "disorder of 11th nerve" EXACT [] synonym: "disorder of accessory [11th] nerve" EXACT [] synonym: "disorder of accessory nerve" EXACT [] synonym: "Eleventh nerve disorder" EXACT [] xref: ICD9CM:352.4 xref: MESH:D020436 xref: NCI:C26953 xref: SNOMEDCT_US_2023_03_01:84759007 xref: UMLS_CUI:C0152180 is_a: DOID:3418 ! glossopharyngeal nerve disease [Term] id: DOID:3390 name: palmoplantar keratosis def: "A keratosis characterized by abnormal thickening of the palms and the soles." [url:http\://en.wikipedia.org/wiki/Palmoplantar_keratoderma] subset: DO_rare_slim synonym: "Keratosis palmaris et plantaris" EXACT [] synonym: "palmo-plantar keratodermas" EXACT [] synonym: "Palmoplantar Keratoderma" EXACT [] xref: GARD:8167 xref: ICD10CM:L85.2 xref: SNOMEDCT_US_2023_03_01:28596004 xref: UMLS_CUI:C0022596 is_a: DOID:161 ! keratosis [Term] id: DOID:3393 name: coronary artery disease alt_id: DOID:10506 alt_id: DOID:3363 alt_id: DOID:3394 alt_id: DOID:9420 def: "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles." [url:http\://en.wikipedia.org/wiki/Coronary_heart_disease] comment: Xref MGI. subset: DO_RAD_slim subset: NCIthesaurus synonym: "CHD" EXACT OMO:0003012 [] synonym: "coronary arteriosclerosis" EXACT [] synonym: "Coronary disease" EXACT [] synonym: "coronary heart disease" EXACT [] xref: EFO:0001645 xref: ICD10CM:I20-I25 xref: ICD10CM:I25 xref: ICD10CM:I25.10 xref: ICD9CM:410-414.99 xref: ICD9CM:414.0 xref: ICD9CM:414.9 xref: MESH:D003324 xref: MESH:D003327 xref: MESH:D017202 xref: MIM:300464 xref: MIM:607339 xref: MIM:608316 xref: MIM:608318 xref: MIM:608320 xref: MIM:610947 xref: MIM:611139 xref: MIM:612030 xref: MIM:614293 xref: NCI:C35505 xref: NCI:C50625 xref: SNOMEDCT_US_2023_03_01:194852007 xref: SNOMEDCT_US_2023_03_01:233822007 xref: SNOMEDCT_US_2023_03_01:41702007 xref: SNOMEDCT_US_2023_03_01:53741008 xref: UMLS_CUI:C0010054 xref: UMLS_CUI:C0010068 xref: UMLS_CUI:C0151744 xref: UMLS_CUI:C0264694 is_a: DOID:0050828 ! artery disease [Term] id: DOID:3401 name: inappropriate ADH syndrome def: "A pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH)." [url:https\://medlineplus.gov/ency/article/000314.htm] subset: NCIthesaurus synonym: "SIADH" EXACT OMO:0003012 [] synonym: "syndrome of Inappropriate Antidiuretic Hormone Secretion" EXACT [] synonym: "syndrome of inappropriate secretion of ADH" EXACT [] synonym: "syndrome of inappropriate secretion of antidiuretic hormone" EXACT [] synonym: "syndrome of inappropriate vasopressin secretion" EXACT [] xref: ICD10CM:E22.2 xref: MESH:D007177 xref: NCI:C3988 xref: SNOMEDCT_US_2023_03_01:55004003 xref: UMLS_CUI:C0021141 is_a: DOID:53 ! pituitary gland disease property_value: exactMatch "MESH:D007177" xsd:string [Term] id: DOID:3402 name: obsolete ectopic hormone secretion syndrome associated with neoplasia synonym: "neoplasm associated Ectopic Hormone Secretion syndromes" EXACT [] is_obsolete: true [Term] id: DOID:3403 name: obsolete hypergammaglobulinemia synonym: "hypergammaglobulinaemia" EXACT [] synonym: "hypergammaglobulinemia (finding)" EXACT [] synonym: "hypergammaglobulinemia [dup] (finding)" EXACT [] synonym: "hypergammaglobulinemia, NOS" EXACT [] is_obsolete: true [Term] id: DOID:3404 name: obsolete benign monoclonal gammopathy synonym: "benign Monoclonal Gammopathy" EXACT [] synonym: "benign monoclonal gammopathy (disorder)" EXACT [] synonym: "BMH" EXACT [] is_obsolete: true [Term] id: DOID:3405 name: histiocytosis alt_id: DOID:3344 def: "A lymphatic system disease that is characterized by an excessive number of histiocytes." [url:http\://en.wikipedia.org/wiki/Histiocytosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000068.htm] subset: NCIthesaurus synonym: "chronic Histiocytosis X" EXACT [] synonym: "Hand Schuller Christian disease" EXACT [] xref: MESH:D015614 xref: NCI:C3106 xref: SNOMEDCT_US_2023_03_01:60657004 xref: UMLS_CUI:C0019618 is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:3407 name: carotid artery disease subset: NCIthesaurus synonym: "disorder of carotid artery" EXACT [] xref: MESH:D002340 xref: NCI:C84476 xref: SNOMEDCT_US_2023_03_01:371160000 xref: UMLS_CUI:C0007273 is_a: DOID:0050828 ! artery disease is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:341 name: peripheral vascular disease alt_id: DOID:2868 def: "A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain." [url:http\://en.wikipedia.org/wiki/Peripheral_vascular_disease] synonym: "arterial occlusive disease" EXACT [] xref: ICD9CM:443.81 xref: MESH:D001157 xref: SNOMEDCT_US_2023_03_01:195624006 xref: SNOMEDCT_US_2023_03_01:2929001 xref: UMLS_CUI:C0003838 xref: UMLS_CUI:C0031115 is_a: DOID:178 ! vascular disease [Term] id: DOID:3410 name: carotid artery thrombosis xref: MESH:D002341 xref: SNOMEDCT_US_2023_03_01:195181000 xref: UMLS_CUI:C0007274 is_a: DOID:3407 ! carotid artery disease is_a: DOID:4193 ! intracranial thrombosis [Term] id: DOID:3412 name: obsolete infectious canine hepatitis def: "A viral infectious disease that involves necrosis of the liver caused by Canine adenovirus 1 in dogs, wolves, coyotes and bears. The symptoms include fever, leukopenia, apathy, anorexia, conjunctivitis, serous discharge from the eyes and nose, petechiae of the oral mucosa, subcutaneous edema of the head, neck and trunk, hematomas in the mouth, jaundice, and hepatic encephalopathy." [url:http\://en.wikipedia.org/wiki/Infectious_canine_hepatitis, url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/57200.htm] is_obsolete: true [Term] id: DOID:3413 name: alpha-mannosidosis def: "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." [url:http\://en.wikipedia.org/wiki/Alpha-mannosidosis] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Alpha-D-mannosidosis" EXACT [] synonym: "alpha-mannosidase deficiency" EXACT [] synonym: "deficiency of alpha-mannosidase" EXACT [] xref: GARD:6968 xref: MESH:D008363 xref: MIM:248500 xref: NCI:C84548 xref: SNOMEDCT_US_2023_03_01:65524005 xref: UMLS_CUI:C0024748 is_a: DOID:3211 ! lysosomal storage disease property_value: exactMatch "MESH:D008363" xsd:string [Term] id: DOID:3414 name: obsolete mannosidase deficiency disease synonym: "mannosidase deficiency" EXACT [] synonym: "Mannosidosis" EXACT [] synonym: "Mannosidosis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:3417 name: glossopharyngeal nerve neoplasm subset: NCIthesaurus synonym: "neoplasm of glossopharyngeal nerve" EXACT [] synonym: "tumor of Glossopharyngeal nerve" EXACT [] xref: NCI:C5828 xref: SNOMEDCT_US_2023_03_01:126975006 xref: UMLS_CUI:C1263900 is_a: DOID:2815 ! cranial nerve malignant neoplasm [Term] id: DOID:3418 name: glossopharyngeal nerve disease def: "A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla." [url:https\://www.ncbi.nlm.nih.gov/mesh?Db=mesh&term=Glossopharyngeal+Nerve+Diseases] synonym: "ninth cranial nerve disease" EXACT [] xref: ICD10CM:G52 xref: ICD9CM:352 xref: SNOMEDCT_US_2023_03_01:193098000 xref: UMLS_CUI:C0154730 is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:3419 name: optic nerve neoplasm subset: NCIthesaurus synonym: "neoplasm of optic nerve" EXACT [] synonym: "tumor of Second Cranial nerve" EXACT [] synonym: "Tumour of optic nerve" EXACT [] xref: MESH:D019574 xref: NCI:C4801 xref: SNOMEDCT_US_2023_03_01:126968005 xref: UMLS_CUI:C0524802 is_a: DOID:1891 ! optic nerve disease is_a: DOID:2815 ! cranial nerve malignant neoplasm [Term] id: DOID:342 name: subclavian artery aneurysm xref: ICD9CM:442.82 xref: SNOMEDCT_US_2023_03_01:40136003 xref: UMLS_CUI:C0155746 is_a: DOID:0050828 ! artery disease [Term] id: DOID:3420 name: obsolete neoplasm of visual pathway synonym: "tumor of the visual pathway" EXACT [] is_obsolete: true [Term] id: DOID:3421 name: trochlear nerve neoplasm subset: NCIthesaurus synonym: "neoplasm of trochlear nerve" EXACT [] synonym: "tumor of Trochlear nerve" EXACT [] xref: NCI:C5825 xref: SNOMEDCT_US_2023_03_01:126970001 xref: UMLS_CUI:C1263896 is_a: DOID:2815 ! cranial nerve malignant neoplasm [Term] id: DOID:3426 name: vestibular disease def: "An inner ear disease that is located in the vestibular system." [url:https\://www.merckmanuals.com/professional/ear\,-nose\,-and-throat-disorders/inner-ear-disorders/introduction-to-inner-ear-disorders] synonym: "Vertigo, vestibular disorder" EXACT [] xref: ICD10CM:H81.9 xref: MESH:D015837 xref: SNOMEDCT_US_2023_03_01:20425006 xref: UMLS_CUI:C0042594 is_a: DOID:2952 ! inner ear disease [Term] id: DOID:3428 name: granulomatous myositis comment: Adding UMLS CUI for synonym. subset: NCIthesaurus xref: NCI:C27575 xref: UMLS_CUI:C1334150 is_a: DOID:633 ! myositis [Term] id: DOID:3429 name: inclusion body myositis def: "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle." [url:http\://en.wikipedia.org/wiki/Inclusion_body_myositis, url:https\://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:3896 xref: ICD10CM:G72.41 xref: ICD9CM:359.71 xref: MESH:D018979 xref: MIM:147421 xref: NCI:C84786 xref: ORDO:611 xref: SNOMEDCT_US_2023_03_01:72315009 xref: UMLS_CUI:C0238190 is_a: DOID:633 ! myositis property_value: exactMatch "MESH:D018979" xsd:string [Term] id: DOID:3431 name: cerebritis def: "A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition." [url:https\://en.wikipedia.org/wiki/Cerebritis] subset: NCIthesaurus xref: NCI:C27199 xref: UMLS_CUI:C0742115 is_a: DOID:936 ! brain disease [Term] id: DOID:3436 name: viral laryngitis def: "A acute laryngitis which is caused by viral infection." [url:http\://www.merck.com/mmpe/sec08/ch092/ch092d.html] subset: DO_infectious_disease_slim subset: NCIthesaurus xref: NCI:C27305 xref: SNOMEDCT_US_2023_03_01:441551009 xref: UMLS_CUI:C0853195 is_a: DOID:934 ! viral infectious disease is_a: DOID:9396 ! acute laryngitis [Term] id: DOID:3437 name: laryngitis def: "A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption." [url:http\://en.wikipedia.org/wiki/Laryngitis] subset: NCIthesaurus xref: MESH:D007827 xref: NCI:C26811 xref: SNOMEDCT_US_2023_03_01:45913009 xref: UMLS_CUI:C0023067 is_a: DOID:786 ! laryngeal disease [Term] id: DOID:344 name: obsolete disease of biological process def: "A disease that involves any biological process (GO:0008150) specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms." [] is_obsolete: true [Term] id: DOID:3443 name: mammary Paget's disease def: "A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371672/] subset: NCIthesaurus synonym: "mammary Paget disease" EXACT [] synonym: "Paget cell neoplasm" EXACT [] synonym: "Paget's disease" EXACT [] synonym: "Paget's disease of the breast" EXACT [] xref: NCI:C7073 xref: UMLS_CUI:C1368019 is_a: DOID:3458 ! breast adenocarcinoma [Term] id: DOID:3444 name: scrotum Paget's disease subset: DO_cancer_slim subset: NCIthesaurus synonym: "Paget's disease of scrotum" EXACT [] synonym: "scrotum Paget disease" EXACT [] xref: NCI:C7728 xref: UMLS_CUI:C0238330 is_a: DOID:3445 ! scrotal carcinoma [Term] id: DOID:3445 name: scrotal carcinoma subset: NCIthesaurus synonym: "carcinoma of scrotum" EXACT [] xref: NCI:C6389 xref: UMLS_CUI:C1370468 is_a: DOID:305 ! carcinoma is_a: DOID:518 ! scrotum neoplasm [Term] id: DOID:3446 name: anal Paget's disease subset: NCIthesaurus synonym: "anal Paget disease" EXACT [] synonym: "Paget's disease of anus" EXACT [] synonym: "Paget's disease of the anus" RELATED [] xref: NCI:C5598 xref: UMLS_CUI:C1332274 is_a: DOID:3447 ! anus adenocarcinoma [Term] id: DOID:3447 name: anus adenocarcinoma def: "An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "adenocarcinoma of anus" EXACT [] synonym: "adenocarcinoma of the anus" RELATED [] xref: NCI:C5600 xref: SNOMEDCT_US_2023_03_01:423607006 xref: UMLS_CUI:C1332257 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4908 ! anal carcinoma [Term] id: DOID:3448 name: penis Paget's disease subset: NCIthesaurus synonym: "Paget's disease of penis" EXACT [] synonym: "penis Paget disease" EXACT [] xref: NCI:C27817 xref: SNOMEDCT_US_2023_03_01:255104003 xref: UMLS_CUI:C0221286 is_a: DOID:3449 ! penis carcinoma [Term] id: DOID:3449 name: penis carcinoma def: "A penile cancer that is located_in the skin or tissues of the penis." [url:http\://en.wikipedia.org/wiki/Carcinoma_of_the_penis] subset: DO_cancer_slim subset: NCIthesaurus synonym: "carcinoma of penis" EXACT [] synonym: "Penile carcinoma" EXACT [] xref: NCI:C9061 xref: SNOMEDCT_US_2023_03_01:372106005 xref: UMLS_CUI:C0853105 is_a: DOID:11615 ! penile cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:345 name: uterine disease def: "A female reproductive system disease that is located_in the uterus." [url:http\://www.merriam-webster.com/dictionary/uterus] subset: NCIthesaurus xref: ICD10CM:N85.9 xref: ICD9CM:621.9 xref: MESH:D014591 xref: NCI:C26907 xref: SNOMEDCT_US_2023_03_01:237068005 xref: UMLS_CUI:C0042131 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:3450 name: cutaneous Paget's disease def: "A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli." [url:https\://ncit.nci.nih.gov/ncitbrowser/pages/home.jsf;jsessionid=C48DBFA9A55E2FE31390EDF86D581ABE] subset: NCIthesaurus synonym: "cutaneous Paget disease" EXACT [] synonym: "extramammary Paget's disease" EXACT [] synonym: "Paget's disease of skin" EXACT [] xref: MESH:D010145 xref: NCI:C3302 is_a: DOID:3451 ! skin carcinoma [Term] id: DOID:3451 name: skin carcinoma def: "A skin cancer that is located_in tissues of the skin and develops from epithelial cells." [url:http\://www.cancer.gov/cancertopics/types/skin] subset: DO_RAD_slim subset: NCIthesaurus synonym: "carcinoma of skin" EXACT [] xref: NCI:C4914 xref: UMLS_CUI:C0699893 is_a: DOID:305 ! carcinoma is_a: DOID:4159 ! skin cancer [Term] id: DOID:3454 name: brain infarction def: "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain." [url:https\://meshb.nlm.nih.gov/record/ui?ui=D020520] xref: MESH:D020520 xref: UMLS_CUI:C0751955 is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:3456 name: cervix erosion def: "A cervix disease that is characterized by the presence of enodcervical columnar epithelium on the ectocervix." [url:https\://en.wikipedia.org/wiki/Cervical_ectropion] synonym: "Erosion of cervix" EXACT [] xref: MESH:D002579 xref: SNOMEDCT_US_2023_03_01:156011009 xref: UMLS_CUI:C0007869 is_a: DOID:2253 ! cervix disease [Term] id: DOID:3457 name: invasive lobular carcinoma def: "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated." [url:http\://www.breastcancer.org/symptoms/types/ilc, url:https\://www.ncbi.nlm.nih.gov/pubmed/25849106] subset: NCIthesaurus synonym: "Lobular carcinoma" EXACT [] synonym: "Lobular carcinoma of breast" EXACT [] synonym: "Lobular carcinoma of the breast" EXACT [] xref: MESH:D018275 xref: NCI:C3771 xref: SNOMEDCT_US_2023_03_01:89740008 xref: UMLS_CUI:C0206692 is_a: DOID:0050938 ! breast lobular carcinoma [Term] id: DOID:3458 name: breast adenocarcinoma def: "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast." [url:http\://www.virtualmedicalcentre.com/diseases.asp?did=696] subset: DO_cancer_slim subset: NCIthesaurus synonym: "adenocarcinoma of breast" RELATED [] synonym: "Mammary adenocarcinoma" EXACT [] xref: NCI:C5214 xref: SNOMEDCT_US_2023_03_01:865954003 xref: UMLS_CUI:C0858252 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:3459 name: breast carcinoma def: "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Breast_cancer] subset: DO_cancer_slim subset: NCIthesaurus synonym: "carcinoma of breast" EXACT [] synonym: "Mammary carcinoma" EXACT [] xref: EFO:0000305 xref: MESH:D001943 xref: NCI:C4872 xref: SNOMEDCT_US_2023_03_01:154513000 xref: UMLS_CUI:C0678222 is_a: DOID:1612 ! breast cancer [Term] id: DOID:3461 name: obsolete breast hamartoma is_obsolete: true [Term] id: DOID:3462 name: obsolete hamartoma alt_id: DOID:3474 synonym: "hamartoma" EXACT [] synonym: "hamartoma (disorder)" EXACT [] synonym: "hamartoma (morphologic abnormality)" EXACT [] synonym: "hamartomatous polyp" EXACT [] synonym: "hamartomatous polyp (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:3463 name: breast disease def: "A disease of anatomical entity that is located_in the breast." [url:http\://www.nlm.nih.gov/medlineplus/breastdiseases.html] subset: DO_MGI_slim subset: NCIthesaurus xref: ICD10CM:N64.9 xref: ICD9CM:610-612.99 xref: MESH:D001941 xref: NCI:C26709 xref: SNOMEDCT_US_2023_03_01:79604008 xref: UMLS_CUI:C0006145 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:3464 name: obsolete hamartoma of skin appendage synonym: "hamartoma of skin appendage (disorder)" EXACT [] synonym: "skin Appendage hamartoma" EXACT [] is_obsolete: true [Term] id: DOID:3465 name: obsolete congenital nevus of skin synonym: "Congenital nevus of the skin" EXACT [] is_obsolete: true [Term] id: DOID:3466 name: obsolete cartilaginous hamartoma synonym: "Cartilagenous hamartoma" EXACT [] synonym: "cartilaginous hamartoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:3467 name: obsolete mesenchymal hamartoma synonym: "mesenchymal hamartoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:3470 name: obsolete hamartoma of central nervous system synonym: "hamartoma of the CNS" EXACT [] is_obsolete: true [Term] id: DOID:3472 name: obsolete hamartoma of lung synonym: "hamartoma of lung (disorder)" EXACT [] synonym: "pulmonary hamartoma" EXACT [] is_obsolete: true [Term] id: DOID:3473 name: obsolete brain hamartoma synonym: "hamartoma of brain (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:3476 name: obsolete Lipomatous hamartoma synonym: "Lipomatous hamartoma" EXACT [] synonym: "Lipomatous hamartoma (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:3478 name: iris cancer alt_id: DOID:6353 subset: NCIthesaurus synonym: "malignant neoplasm of the Iris" EXACT [] synonym: "malignant tumor of iris" EXACT [] synonym: "tumor of the Iris" EXACT [] xref: MESH:D015811 xref: NCI:C3142 xref: NCI:C4554 xref: SNOMEDCT_US_2023_03_01:188264002 xref: SNOMEDCT_US_2023_03_01:231964001 xref: UMLS_CUI:C0022079 xref: UMLS_CUI:C0346372 is_a: DOID:240 ! iris disease is_a: DOID:3479 ! uveal cancer [Term] id: DOID:3479 name: uveal cancer alt_id: DOID:12754 def: "An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes." [url:https\://www.umkelloggeye.org/conditions-treatments/uveal-melanoma-ocular-melanoma] subset: NCIthesaurus synonym: "Malignant neoplasm of uveal tract" EXACT [] synonym: "malignant Uveal tumor" EXACT [] synonym: "Uveal tumor" EXACT [] xref: NCI:C6105 xref: UMLS_CUI:C3665670 is_a: DOID:2174 ! ocular cancer is_a: DOID:3480 ! uveal disease [Term] id: DOID:348 name: blepharochalasis def: "An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins." [url:https\://en.wikipedia.org/wiki/Blepharochalasis] xref: ICD10CM:H02.3 xref: ICD9CM:374.34 xref: SNOMEDCT_US_2023_03_01:193944001 xref: UMLS_CUI:C0005742 is_a: DOID:530 ! eyelid disease [Term] id: DOID:3480 name: uveal disease def: "An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26908] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:8192 xref: MESH:D014603 xref: NCI:C26908 xref: SNOMEDCT_US_2023_03_01:95678007 xref: UMLS_CUI:C0042161 is_a: DOID:5614 ! eye disease [Term] id: DOID:3481 name: septicemic plague def: "A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs." [url:http\://en.wikipedia.org/wiki/Plague_%28disease%29#Septicemic_plague, url:http\://www.cdc.gov/ncidod/dvbid/plague/facts.htm] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease xref: ICD10CM:A20.7 xref: ICD9CM:020.2 xref: MESH:D010930 xref: SNOMEDCT_US_2023_03_01:9012003 xref: UMLS_CUI:C0152936 is_a: DOID:1287 ! cardiovascular system disease is_a: DOID:3482 ! plague [Term] id: DOID:3482 name: plague def: "A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29628173] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: zoonotic_infectious_disease xref: ICD10CM:A20 xref: ICD9CM:020 xref: MESH:D010930 xref: NCI:C85015 xref: SNOMEDCT_US_2023_03_01:58750007 xref: UMLS_CUI:C0032064 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:3485 name: obsolete Oxyurida infectious disease def: "A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Oxyurida." [url:http\://en.wikipedia.org/wiki/Oxyurida] is_obsolete: true [Term] id: DOID:3486 name: necrobiosis lipoidica subset: DO_rare_slim subset: NCIthesaurus xref: GARD:13040 xref: MESH:D009335 xref: NCI:C34840 xref: SNOMEDCT_US_2023_03_01:201319007 xref: UMLS_CUI:C0027538 is_a: DOID:37 ! skin disease [Term] id: DOID:3487 name: obsolete metabolic skin disease is_obsolete: true [Term] id: DOID:3488 name: cellulitis alt_id: DOID:2472 def: "A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion." [url:http\://en.wikipedia.org/wiki/Cellulitis] subset: NCIthesaurus xref: ICD10CM:L03.90 xref: MESH:D002481 xref: NCI:C26715 xref: NCI:C34454 xref: SNOMEDCT_US_2023_03_01:267833003 xref: SNOMEDCT_US_2023_03_01:74276003 xref: UMLS_CUI:C0007642 xref: UMLS_CUI:C0007646 is_a: DOID:37 ! skin disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:349 name: systemic mastocytosis subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "SMCD - systemic mast cell disease" EXACT [] synonym: "systemic tissue mast cell disease" EXACT [] xref: GARD:8616 xref: ICD10CM:D47.02 xref: MESH:D034721 xref: NCI:C9235 xref: SNOMEDCT_US_2023_03_01:123310005 xref: UMLS_CUI:C0221013 is_a: DOID:350 ! mastocytosis [Term] id: DOID:3490 name: Noonan syndrome def: "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms." [url:https\://ghr.nlm.nih.gov/condition/noonan-syndrome#definition, url:https\://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome, url:https\://research.nhgri.nih.gov/atlas/condition/noonan-syndrome, url:https\://www.genome.gov/Genetic-Disorders/Noonan-Syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Turner's phenotype, karyotype normal" EXACT [] xref: GARD:10955 xref: ICD10CM:Q87.19 xref: MESH:D009634 xref: MIM:PS163950 xref: NCI:C34854 xref: ORDO:648 xref: SNOMEDCT_US_2023_03_01:88327006 xref: UMLS_CUI:C0028326 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080690 ! RASopathy [Term] id: DOID:3491 name: Turner syndrome alt_id: DOID:5448 def: "A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome." [url:https\://ghr.nlm.nih.gov/condition/turner-syndrome, url:https\://rarediseases.org/rare-diseases/turner-syndrome/, url:https\://research.nhgri.nih.gov/atlas/condition/turner-syndrome, url:https\://www.genome.gov/Genetic-Disorders/Turner-Syndrome] comment: No OMIM mapping, confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Bonnevie-Ullrich syndrome" EXACT [] synonym: "Gonadal dysgenesis - Turner" EXACT [] synonym: "Karyotype 45, X" EXACT [] synonym: "Monosomy X" EXACT [] synonym: "monosomy X syndrome" EXACT [] synonym: "XO syndrome" EXACT [] xref: GARD:2540 xref: GARD:7831 xref: ICD10CM:Q96 xref: MESH:D014424 xref: NCI:C26900 xref: NCI:C34434 xref: SNOMEDCT_US_2023_03_01:38804009 xref: UMLS_CUI:C0041408 xref: UMLS_CUI:C1527168 is_a: DOID:14447 ! gonadal dysgenesis [Term] id: DOID:3492 name: mixed connective tissue disease def: "A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen." [url:http\://www.merckmanuals.com/professional/sec04/ch032/ch032c.html] subset: DO_rare_slim subset: NCIthesaurus synonym: "Connective tissue disease overlap syndrome" EXACT [] synonym: "mixed collagen vascular disease" EXACT [] xref: GARD:7051 xref: ICD10CM:M35.1 xref: MESH:D008947 xref: NCI:C84892 xref: SNOMEDCT_US_2023_03_01:33110008 xref: UMLS_CUI:C0026272 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:854 ! collagen disease [Term] id: DOID:3493 name: signet ring cell adenocarcinoma def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance." [url:http\://en.wikipedia.org/wiki/Signet_ring_cell_carcinoma] subset: NCIthesaurus synonym: "Signet ring carcinoma" EXACT [] synonym: "Signet ring cell carcinoma" EXACT [] xref: MESH:D018279 xref: NCI:C3774 xref: SNOMEDCT_US_2023_03_01:189701002 xref: UMLS_CUI:C0206696 is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:3494 name: bile duct signet ring cell carcinoma subset: NCIthesaurus xref: NCI:C5776 xref: UMLS_CUI:C0861859 is_a: DOID:4897 ! bile duct carcinoma [Term] id: DOID:3495 name: extrahepatic bile duct adenocarcinoma def: "An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of extrahepatic bile duct" EXACT [] synonym: "adenocarcinoma of the extrahepatic bile duct" RELATED [] xref: NCI:C7975 xref: UMLS_CUI:C0279659 is_a: DOID:4682 ! extrahepatic bile duct carcinoma [Term] id: DOID:3497 name: pancreatic signet ring cell adenocarcinoma subset: NCIthesaurus synonym: "pancreatic signet ring cell carcinoma" EXACT [] synonym: "Signet Ring cell carcinoma of pancreas" EXACT [] xref: NCI:C5720 xref: UMLS_CUI:C1335317 is_a: DOID:3498 ! pancreatic ductal adenocarcinoma [Term] id: DOID:3498 name: pancreatic ductal adenocarcinoma def: "A pancreatic adenocarcinoma that derives_from pancreatic duct cells." [url:http\://cancergenome.nih.gov/cancersselected/PancreaticDuctalAdenocarcinoma, url:http\://en.wikipedia.org/wiki/Pancreatic_cancer] subset: DO_cancer_slim subset: NCIthesaurus synonym: "ductal adenocarcinoma of the pancreas" EXACT [] xref: NCI:C9120 xref: SNOMEDCT_US_2023_03_01:792907004 xref: UMLS_CUI:C1335302 is_a: DOID:4074 ! pancreatic adenocarcinoma [Term] id: DOID:3499 name: gallbladder signet ring cell adenocarcinoma subset: NCIthesaurus synonym: "Signet Ring cell carcinoma of the gallbladder" EXACT [] xref: NCI:C5745 xref: UMLS_CUI:C1333758 is_a: DOID:3500 ! gallbladder adenocarcinoma [Term] id: DOID:350 name: mastocytosis comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "mast cell hyperplasia" EXACT [] xref: GARD:6987 xref: ICD10CM:D47.09 xref: MESH:D008415 xref: MIM:154800 xref: NCI:C84269 xref: SNOMEDCT_US_2023_03_01:78745000 xref: UMLS_CUI:C0024899 is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:3500 name: gallbladder adenocarcinoma def: "A gallbladder carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of the gallbladder" EXACT [] xref: NCI:C9166 xref: UMLS_CUI:C0279651 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4948 ! gallbladder carcinoma [Term] id: DOID:3501 name: ampullary signet ring cell adenocarcinoma subset: NCIthesaurus synonym: "ampullary signet ring cell carcinoma" EXACT [] xref: NCI:C6656 xref: UMLS_CUI:C1332249 is_a: DOID:3502 ! ampulla of Vater adenocarcinoma [Term] id: DOID:3502 name: ampulla of Vater adenocarcinoma def: "An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of ampulla of vater" RELATED [] synonym: "ampullary adenocarcinoma" EXACT [] xref: NCI:C6650 xref: UMLS_CUI:C1332243 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4932 ! ampulla of Vater carcinoma [Term] id: DOID:3503 name: breast signet ring cell adenocarcinoma def: "A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751374/] subset: NCIthesaurus synonym: "Mammary Signet Ring cell carcinoma" EXACT [] synonym: "signet ring cell carcinoma of breast" RELATED [] xref: NCI:C5175 xref: UMLS_CUI:C1335964 is_a: DOID:3458 ! breast adenocarcinoma [Term] id: DOID:3504 name: prostate signet ring cell adenocarcinoma subset: NCIthesaurus synonym: "prostate signet ring cell carcinoma" EXACT [] synonym: "Signet Ring cell carcinoma of prostate" EXACT [] xref: NCI:C5535 xref: UMLS_CUI:C1335520 is_a: DOID:2526 ! prostate adenocarcinoma [Term] id: DOID:3507 name: dermatofibrosarcoma protuberans def: "A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly." [url:http\://en.wikipedia.org/wiki/Dermatofibrosarcoma_protuberans, url:http\://www.cancer.gov/dictionary?CdrID=44276] comment: MESH:C538219 added from NeuroDevNet [WAK]. subset: DO_cancer_slim subset: DO_rare_slim xref: GARD:9569 xref: ICDO:8832/1 xref: MESH:D018223 xref: MIM:607907 xref: SNOMEDCT_US_2023_03_01:302844005 xref: UMLS_CUI:C0206647 is_a: DOID:3355 ! fibrosarcoma [Term] id: DOID:3508 name: stricture or kinking of ureter xref: ICD9CM:593.3 xref: UMLS_CUI:C0156261 is_a: DOID:557 ! kidney disease [Term] id: DOID:3512 name: neurofibrosarcoma subset: DO_rare_slim synonym: "Neurosarcoma" EXACT [] xref: GARD:8211 xref: MESH:D018319 xref: SNOMEDCT_US_2023_03_01:19897006 xref: UMLS_CUI:C0206729 is_a: DOID:962 ! neurofibroma [Term] id: DOID:3516 name: adult fibrosarcoma subset: NCIthesaurus xref: NCI:C7809 xref: UMLS_CUI:C0278595 is_a: DOID:3355 ! fibrosarcoma [Term] id: DOID:3517 name: conventional fibrosarcoma subset: NCIthesaurus xref: NCI:C9429 xref: UMLS_CUI:C1333156 is_a: DOID:3355 ! fibrosarcoma [Term] id: DOID:3519 name: obsolete non-metastatic fibrosarcoma is_obsolete: true [Term] id: DOID:3520 name: childhood fibrosarcoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric fibrosarcoma" EXACT [] xref: NCI:C8088 xref: UMLS_CUI:C0279981 is_a: DOID:3355 ! fibrosarcoma [Term] id: DOID:3521 name: obsolete childhood soft tissue sarcoma def: "A sarcoma that affects children and is located_in the soft tissues of the body." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/child-soft-tissue-sarcoma/Patient] synonym: "pediatric sarcoma of the soft tissue" EXACT [] is_obsolete: true [Term] id: DOID:3522 name: lateral medullary syndrome def: "A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome." [url:https\://en.wikipedia.org/wiki/Lateral_medullary_syndrome] subset: NCIthesaurus synonym: "Posterior inferior cerebellar artery syndrome" EXACT [] synonym: "Wallenberg syndrome" EXACT [] xref: ICD10CM:G46.3 xref: MESH:D014854 xref: NCI:C84807 xref: SNOMEDCT_US_2023_03_01:78569004 xref: UMLS_CUI:C0043019 is_a: DOID:3523 ! brain stem infarction [Term] id: DOID:3523 name: brain stem infarction def: "A brain infarction that is characterized by stroke of the brain stem that develops from blockage or narrowing in the arteries located_in the brainstem, has_material_basis_in damage to the cranial nerve nuclei and long tracts, has_symptom vertigo, has_symptom imbalance, has_symptom decreased level of arousal." [url:https\://en.wikipedia.org/wiki/Brainstem, url:https\://en.wikipedia.org/wiki/Brainstem_stroke_syndrome] synonym: "Brainstem infarction" EXACT [] xref: MESH:D020526 xref: SNOMEDCT_US_2023_03_01:95457000 xref: UMLS_CUI:C0521542 is_a: DOID:3454 ! brain infarction [Term] id: DOID:3525 name: middle cerebral artery infarction xref: MESH:D020244 xref: UMLS_CUI:C0740392 is_a: DOID:3526 ! cerebral infarction [Term] id: DOID:3526 name: cerebral infarction def: "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain." [url:https\://en.wikipedia.org/wiki/Cerebral_infarction] subset: NCIthesaurus synonym: "Cerebral infarct" EXACT [] synonym: "CVA - Cerebral infarction" EXACT [] xref: ICD10CM:I63 xref: MESH:D002544 xref: MIM:601367 xref: NCI:C50486 xref: SNOMEDCT_US_2023_03_01:195188006 xref: UMLS_CUI:C0007785 is_a: DOID:3454 ! brain infarction [Term] id: DOID:3527 name: cerebral arterial disease xref: MESH:D002539 xref: UMLS_CUI:C0007774 is_a: DOID:0050828 ! artery disease is_a: DOID:13089 ! intracranial arterial disease [Term] id: DOID:3528 name: anterior cerebral artery infarction xref: MESH:D020243 xref: UMLS_CUI:C0751843 is_a: DOID:3526 ! cerebral infarction [Term] id: DOID:3529 name: congenital myopathy 1A def: "A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe." [url:https\://medlineplus.gov/genetics/condition/central-core-disease/, url:https\://pubmed.ncbi.nlm.nih.gov/23553484/, url:https\://pubmed.ncbi.nlm.nih.gov/34627702/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "central core disease" EXACT [] synonym: "central core myopathy" EXACT [] xref: GARD:6014 xref: ICD10CM:G71.29 xref: MESH:D020512 xref: MIM:117000 xref: NCI:C83010 xref: ORDO:597 xref: SNOMEDCT_US_2023_03_01:43152001 xref: UMLS_CUI:C0751951 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:3530 name: chronic wasting disease subset: DO_infectious_disease_slim xref: MESH:D034081 xref: UMLS_CUI:C1135993 is_a: DOID:649 ! prion disease [Term] id: DOID:3532 name: obsolete peste des petits ruminants infectious disease def: "A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/peste_des_petits_ruminants.pdf] synonym: "Goat plague" EXACT [] synonym: "Ovine rinderpest" EXACT [] synonym: "PPR" EXACT [] synonym: "Pseudorinderpest" EXACT [] synonym: "Stomatitis-Pneumoenteritis Syndrome" EXACT [] is_obsolete: true [Term] id: DOID:3533 name: obsolete Morbillivirus infectious disease def: "A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus." [url:http\://en.wikipedia.org/wiki/Morbillivirus] is_obsolete: true [Term] id: DOID:3534 name: Lafora disease def: "A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19267391, url:https\://www.ncbi.nlm.nih.gov/pubmed/19469843] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Lafora Progressive Myoclonic Epilepsy" EXACT [] synonym: "Lafora's disease" EXACT [] synonym: "MYOCLONIC EPILEPSY OF LAFORA" EXACT [] xref: GARD:8214 xref: MESH:D020192 xref: MIM:254780 xref: NCI:C84804 xref: SNOMEDCT_US_2023_03_01:230425004 xref: UMLS_CUI:C0751783 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:3535 name: Unverricht-Lundborg syndrome def: "A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19469843] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Unverricht - Lundborg disease" EXACT [] synonym: "Unverricht's disease" EXACT [] synonym: "Unverricht-Lundborg disease" EXACT [] xref: GARD:3876 xref: MESH:D020194 xref: NCI:C179710 xref: SNOMEDCT_US_2023_03_01:192847001 xref: UMLS_CUI:C0751785 is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:3540 name: choroid plexus cancer def: "A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain." [url:http\://en.wikipedia.org/wiki/Choroid_plexus] subset: NCIthesaurus synonym: "choroid plexus neoplasm" RELATED [] synonym: "tumor of choroid plexus" EXACT [] synonym: "tumor of the Choroid Plexus" EXACT [] xref: MESH:D016545 xref: NCI:C3473 xref: SNOMEDCT_US_2023_03_01:254942002 xref: UMLS_CUI:C0085138 is_a: DOID:3541 ! cerebral ventricle cancer [Term] id: DOID:3541 name: cerebral ventricle cancer alt_id: DOID:10856 def: "A cerebrum cancer that is located_in the cerebral ventricles." [url:http\://en.wikipedia.org/wiki/Ventricular_system] subset: DO_rare_slim subset: NCIthesaurus synonym: "cerebral ventricle neoplasm" EXACT [] synonym: "Intraventricular tumor of brain" EXACT [] xref: GARD:6025 xref: ICD10CM:C71.5 xref: ICD9CM:191.5 xref: MESH:D002551 xref: NCI:C2937 xref: SNOMEDCT_US_2023_03_01:126958000 xref: SNOMEDCT_US_2023_03_01:363471001 xref: UMLS_CUI:C0007798 xref: UMLS_CUI:C0346906 is_a: DOID:368 ! cerebrum cancer [Term] id: DOID:3542 name: adult choroid plexus cancer subset: NCIthesaurus synonym: "adult choroid plexus tumor" RELATED [] synonym: "neoplasm of the adult Choroid Plexus" EXACT [] xref: NCI:C8568 xref: UMLS_CUI:C0796430 is_a: DOID:3540 ! choroid plexus cancer [Term] id: DOID:3544 name: atypical choroid plexus papilloma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9390/1 xref: NCI:C53686 xref: SNOMEDCT_US_2023_03_01:1156470000 xref: UMLS_CUI:C1266176 is_a: DOID:2615 ! papilloma is_a: DOID:60007 ! cerebrovascular benign neoplasm [Term] id: DOID:3545 name: childhood choroid plexus cancer subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood choroid plexus neoplasm" RELATED [] xref: NCI:C42080 xref: UMLS_CUI:C0280623 is_a: DOID:3540 ! choroid plexus cancer [Term] id: DOID:3546 name: obsolete somatosensory disorder is_obsolete: true [Term] id: DOID:355 name: mast-cell sarcoma def: "A sarcoma that has_material_basis_in mast cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24745684] subset: NCIthesaurus xref: ICD10CM:C96.22 xref: ICD9CM:202.6 xref: MESH:D012515 xref: NCI:C9348 xref: SNOMEDCT_US_2023_03_01:118615008 xref: UMLS_CUI:C0036221 is_a: DOID:1115 ! sarcoma is_a: DOID:3664 ! mast cell neoplasm [Term] id: DOID:3557 name: superior mesenteric artery syndrome def: "A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery." [url:https\://rarediseases.org/rare-diseases/superior-mesenteric-artery-syndrome/, url:https\://www.ncbi.nlm.nih.gov/books/NBK482209/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Wilkie's syndrome" EXACT [] xref: GARD:7712 xref: MESH:D013478 xref: NCI:C85175 xref: ORDO:622099 xref: SNOMEDCT_US_2023_03_01:24988007 xref: UMLS_CUI:C0038828 is_a: DOID:3558 ! duodenal obstruction [Term] id: DOID:3558 name: duodenal obstruction subset: NCIthesaurus xref: ICD10CM:K31.5 xref: MESH:D004380 xref: NCI:C79548 xref: SNOMEDCT_US_2023_03_01:95532008 xref: UMLS_CUI:C0013292 is_a: DOID:4072 ! duodenum disease [Term] id: DOID:3559 name: pseudomyxoma peritonei def: "An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis." [url:http\://en.wikipedia.org/wiki/Pseudomyxoma_peritonei, url:http\://www.cancer.gov/dictionary?CdrID=44256, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/843/viewAbstract, url:https\://www.ncbi.nlm.nih.gov/pubmed/14567019] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "mucinous Ascites" EXACT [] xref: GARD:7488 xref: ICDO:8480/6 xref: MESH:D011553 xref: NCI:C3345 xref: SNOMEDCT_US_2023_03_01:307601000 xref: UMLS_CUI:C0033822 is_a: DOID:11239 ! appendix cancer [Term] id: DOID:356 name: obsolete intrathoracic lymph node mast cell malignancy synonym: "malignant mast cell tumors involving intrathoracic lymph nodes" EXACT [] synonym: "Mast cell malignancy of intrathoracic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:3565 name: meningioma alt_id: DOID:1137 alt_id: DOID:3554 alt_id: DOID:3567 alt_id: DOID:4750 def: "A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges." [url:http\://en.wikipedia.org/wiki/Meningioma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "meningeal neoplasm" EXACT [] synonym: "meningothelial cell tumor" EXACT [] synonym: "neoplasm of the meninges" EXACT [] synonym: "primary Meningeal tumor" EXACT [] xref: GARD:7015 xref: ICD10CM:D32.9 xref: ICDO:9530/0 xref: MESH:D008579 xref: NCI:C3230 xref: NCI:C6971 xref: SNOMEDCT_US_2023_03_01:269643009 xref: UMLS_CUI:C0025286 xref: UMLS_CUI:C1334698 is_a: DOID:3620 ! central nervous system cancer [Term] id: DOID:3568 name: obsolete viral hemorrhagic septicemia def: "A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens." [url:http\://en.wikipedia.org/wiki/Viral_hemorrhagic_septicemia] synonym: "Egtved Disease" EXACT [] is_obsolete: true [Term] id: DOID:357 name: obsolete upper limb lymph node mast cell malignancy synonym: "malignant mast cell tumors involving lymph nodes of axilla and upper limb" EXACT [] synonym: "Mast cell malignancy of lymph nodes of axilla and upper limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:3571 name: liver cancer alt_id: DOID:12300 alt_id: DOID:269 alt_id: DOID:7330 alt_id: DOID:915 alt_id: DOID:919 def: "A hepatobiliary system cancer that is located_in the liver." [url:http\://en.wikipedia.org/wiki/Liver] subset: DO_cancer_slim subset: DO_CFDE_slim subset: DO_RAD_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "Ca liver - primary" EXACT [] synonym: "hepatic cancer" EXACT [] synonym: "hepatic neoplasm" EXACT [] synonym: "malignant hepato-biliary neoplasm" EXACT [] synonym: "malignant neoplasm of liver" EXACT [] synonym: "malignant neoplasm of liver, not specified as primary or secondary" EXACT [] synonym: "malignant neoplasm of liver, primary" EXACT [] synonym: "malignant tumor of liver" EXACT [] synonym: "neoplasm of liver" EXACT [] synonym: "non-resectable primary hepatic malignant neoplasm" EXACT [] synonym: "primary liver cancer" EXACT [] synonym: "primary malignant neoplasm of liver" EXACT [] synonym: "Resectable malignant neoplasm of Liver" EXACT [] synonym: "resectable malignant neoplasm of the liver" EXACT [] xref: ICD10CM:C22.0 xref: ICD10CM:C22.9 xref: ICD9CM:155.0 xref: ICD9CM:155.2 xref: MESH:D008113 xref: NCI:C34803 xref: NCI:C7692 xref: SNOMEDCT_US_2023_03_01:126851005 xref: SNOMEDCT_US_2023_03_01:187771009 xref: SNOMEDCT_US_2023_03_01:93870000 xref: UMLS_CUI:C0023903 xref: UMLS_CUI:C0024620 xref: UMLS_CUI:C0345904 xref: UMLS_CUI:C0854795 is_a: DOID:0080355 ! hepatobiliary system cancer is_a: DOID:170 ! endocrine gland cancer is_a: DOID:409 ! liver disease [Term] id: DOID:3572 name: intracranial sinus thrombosis xref: MESH:D012851 xref: UMLS_CUI:C0037198 is_a: DOID:4193 ! intracranial thrombosis [Term] id: DOID:3574 name: lateral sinus thrombosis synonym: "Thrombosis of lateral venous sinus" EXACT [] synonym: "Thrombosis transverse sinus" EXACT [] xref: MESH:D020227 xref: SNOMEDCT_US_2023_03_01:21258007 xref: UMLS_CUI:C0270639 is_a: DOID:3572 ! intracranial sinus thrombosis [Term] id: DOID:3575 name: cavernous sinus thrombosis synonym: "Thrombosis of cavernous venous sinus" EXACT [] xref: MESH:D020226 xref: SNOMEDCT_US_2023_03_01:89980009 xref: UMLS_CUI:C0238454 is_a: DOID:3572 ! intracranial sinus thrombosis [Term] id: DOID:3576 name: sagittal sinus thrombosis synonym: "Thrombosis of superior longitudinal sinus" EXACT [] synonym: "Thrombosis of superior sagittal sinus" EXACT [] xref: MESH:D020225 xref: SNOMEDCT_US_2023_03_01:70607008 xref: UMLS_CUI:C0338575 is_a: DOID:3572 ! intracranial sinus thrombosis [Term] id: DOID:3577 name: Sertoli cell tumor alt_id: DOID:0050617 def: "A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells." [url:https\://en.wikipedia.org/wiki/Sertoli_cell_tumour] subset: NCIthesaurus synonym: "tubular androblastoma" EXACT [] xref: ICDO:8640/1 xref: MESH:D012707 xref: NCI:C39976 xref: SNOMEDCT_US_2023_03_01:128857001 xref: UMLS_CUI:C0036769 is_a: DOID:192 ! sex cord-gonadal stromal tumor [Term] id: DOID:3578 name: ovarian gonadoblastoma def: "An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21879333] subset: NCIthesaurus xref: NCI:C39985 xref: SNOMEDCT_US_2023_03_01:716594002 xref: UMLS_CUI:C1518716 is_a: DOID:0060112 ! ovarian benign neoplasm is_a: DOID:3301 ! gonadoblastoma [Term] id: DOID:3579 name: testicular gonadoblastoma subset: NCIthesaurus xref: NCI:C39911 xref: UMLS_CUI:C1515283 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:2519 ! testicular disease is_a: DOID:3301 ! gonadoblastoma [Term] id: DOID:3580 name: obsolete testicular mixed germ cell-sex cord-stromal neoplasm synonym: "testicular mixed germ cell-Sex Cord tumor" EXACT [] is_obsolete: true [Term] id: DOID:3583 name: obsolete enterotoxemia subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:3584 name: obsolete commensal Clostridium infectious disease subset: gram-positive_bacterial_infectious_disease synonym: "clostridial infection" EXACT [] is_obsolete: true [Term] id: DOID:3586 name: obsolete Puerperal pyrexia of unknown origin is_obsolete: true [Term] id: DOID:3587 name: pancreatic ductal carcinoma alt_id: DOID:10023 def: "A pancreatic carcinoma located_in the pancreatic duct." [url:http\://en.wikipedia.org/wiki/Pancreatic_cancer, url:http\://en.wikipedia.org/wiki/Pancreatic_duct] subset: DO_cancer_slim synonym: "malignant neoplasm of duct of Wirsung" EXACT [] synonym: "pancreatic duct cancer" EXACT [] xref: ICD10CM:C25.3 xref: ICD9CM:157.3 xref: MESH:D021441 xref: SNOMEDCT_US_2023_03_01:93939009 xref: UMLS_CUI:C0153461 xref: UMLS_CUI:C0887833 is_a: DOID:4905 ! pancreatic carcinoma [Term] id: DOID:3589 name: obsolete Poor Prognosis metastatic Gestational Trophoblastic tumor is_obsolete: true [Term] id: DOID:3590 name: gestational trophoblastic neoplasm alt_id: DOID:14071 alt_id: DOID:3598 comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "gestational trophoblastic neoplasia" EXACT [] synonym: "hydatidiform mole" EXACT [] synonym: "molar pregnancy" EXACT [] xref: ICD10CM:O01 xref: ICD9CM:630 xref: MESH:D006828 xref: MESH:D031901 xref: MIM:231090 xref: NCI:C3110 xref: NCI:C4699 xref: NCI:C7887 xref: SNOMEDCT_US_2023_03_01:156085008 xref: SNOMEDCT_US_2023_03_01:417475006 xref: UMLS_CUI:C0020217 xref: UMLS_CUI:C0278796 xref: UMLS_CUI:C1135868 is_a: DOID:1380 ! endometrial cancer is_a: DOID:4085 ! trophoblastic neoplasm [Term] id: DOID:3591 name: obsolete Nonmetastatic Gestational Trophoblastic tumor is_obsolete: true [Term] id: DOID:3593 name: epithelioid trophoblastic tumor subset: NCIthesaurus xref: NCI:C6900 xref: SNOMEDCT_US_2023_03_01:128767001 xref: UMLS_CUI:C1266159 is_a: DOID:1324 ! lung cancer is_a: DOID:4085 ! trophoblastic neoplasm is_a: DOID:4362 ! cervical cancer [Term] id: DOID:3594 name: choriocarcinoma def: "A placenta cancer that has_material_basis_in trophoblastic cells." [url:https\://en.wikipedia.org/wiki/Choriocarcinoma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Chorioepithelioma" EXACT [] xref: GARD:6059 xref: ICD10CM:C58 xref: ICDO:9100/3 xref: MESH:D002822 xref: NCI:C2948 xref: SNOMEDCT_US_2023_03_01:189444004 xref: UMLS_CUI:C0008497 is_a: DOID:2021 ! placenta cancer [Term] id: DOID:3596 name: placental site trophoblastic tumor def: "A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14614893] subset: DO_cancer_slim subset: NCIthesaurus synonym: "placental site trophoblastic tumour" EXACT [] synonym: "Placental-Site Gestational Trophoblastic neoplasm" EXACT [] xref: ICDO:9104/1 xref: MESH:D018245 xref: NCI:C3757 xref: SNOMEDCT_US_2023_03_01:75320001 xref: UMLS_CUI:C0206666 is_a: DOID:3594 ! choriocarcinoma [Term] id: DOID:3597 name: obsolete Good Prognosis metastatic Gestational Trophoblastic tumor is_obsolete: true [Term] id: DOID:3602 name: toxic encephalopathy def: "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521923/, url:https\://en.wikipedia.org/wiki/Toxic_encephalopathy] subset: NCIthesaurus synonym: "neurotoxicity" EXACT [] synonym: "neurotoxicity syndrome" EXACT [] xref: MESH:D020258 xref: NCI:C27961 xref: SNOMEDCT_US_2023_03_01:19466003 xref: UMLS_CUI:C0235032 is_a: DOID:863 ! nervous system disease [Term] id: DOID:3603 name: mucinous cystadenocarcinoma def: "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." [url:https\://www.thehealthboard.com/what-is-a-mucinous-cystadenocarcinoma.htm] subset: NCIthesaurus synonym: "Pseudomucinous cystadenocarcinoma" EXACT [] xref: ICDO:8470/3 xref: MESH:D018282 xref: NCI:C3776 xref: SNOMEDCT_US_2023_03_01:79143006 xref: UMLS_CUI:C0206699 is_a: DOID:3111 ! cystadenocarcinoma [Term] id: DOID:3604 name: ovarian mucinous cystadenocarcinoma def: "An ovarian cystadenocarcinoma that is characterized by the presence of mucin." [url:https\://en.wikipedia.org/wiki/Ovarian_mucinous_tumor] subset: NCIthesaurus synonym: "mucinous cystadenocarcinoma of ovary" EXACT [] xref: NCI:C4026 xref: SNOMEDCT_US_2023_03_01:254851009 xref: UMLS_CUI:C0279665 is_a: DOID:3605 ! ovarian cystadenocarcinoma [Term] id: DOID:3605 name: ovarian cystadenocarcinoma def: "An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces." [url:https\://pubmed.ncbi.nlm.nih.gov/2196390/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "cystadenocarcinoma of ovary" EXACT [] synonym: "cystadenocarcinoma of the Ovary" EXACT [] xref: NCI:C5228 xref: SNOMEDCT_US_2023_03_01:314191009 xref: UMLS_CUI:C1096638 is_a: DOID:3713 ! ovary adenocarcinoma [Term] id: DOID:3606 name: ovarian mucinous adenocarcinoma def: "An ovary adenocarcinoma that is characterized by the presence of mucin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24487473] subset: NCIthesaurus synonym: "mucinous carcinoma of Ovary" EXACT [] xref: NCI:C5243 xref: UMLS_CUI:C1335167 is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:3713 ! ovary adenocarcinoma [Term] id: DOID:3607 name: appendix mucinous cystadenocarcinoma subset: NCIthesaurus synonym: "Colloidal cystadenocarcinoma of the appendix" EXACT [] xref: NCI:C5511 xref: UMLS_CUI:C1096639 is_a: DOID:3608 ! appendix adenocarcinoma [Term] id: DOID:3608 name: appendix adenocarcinoma def: "An appendix carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "Appendiceal adenocarcinoma" EXACT [] xref: NCI:C7718 xref: SNOMEDCT_US_2023_03_01:413445002 xref: UMLS_CUI:C0238003 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4902 ! appendix carcinoma [Term] id: DOID:3609 name: breast mucinous cystadenocarcinoma def: "A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643878/] subset: NCIthesaurus xref: NCI:C40354 xref: UMLS_CUI:C1511318 is_a: DOID:3610 ! breast mucinous carcinoma [Term] id: DOID:361 name: cervix endometriosis def: "A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21890095] subset: NCIthesaurus synonym: "cervical Endometriosis" EXACT [] synonym: "Endometriosis of cervix" EXACT [] xref: ICD10CM:N80.0 xref: NCI:C27623 xref: SNOMEDCT_US_2023_03_01:61640006 xref: UMLS_CUI:C0269107 is_a: DOID:2253 ! cervix disease [Term] id: DOID:3610 name: breast mucinous carcinoma def: "A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout." [url:http\://surgpathcriteria.stanford.edu/breast/mucincabr/, url:https\://www.ncbi.nlm.nih.gov/pubmed/24305754] subset: NCIthesaurus synonym: "Invasive mucinous breast carcinoma" EXACT [] synonym: "mucinous carcinoma of breast" RELATED [] xref: NCI:C9131 xref: SNOMEDCT_US_2023_03_01:444712000 xref: UMLS_CUI:C1334807 is_a: DOID:3458 ! breast adenocarcinoma [Term] id: DOID:3611 name: acute retinal necrosis syndrome synonym: "acute retinal necrosis" EXACT [] xref: MESH:D015882 xref: SNOMEDCT_US_2023_03_01:231986000 xref: UMLS_CUI:C0035319 is_a: DOID:3612 ! retinitis [Term] id: DOID:3612 name: retinitis subset: NCIthesaurus xref: ICD10CM:H30.9 xref: MESH:D012173 xref: NCI:C115993 xref: SNOMEDCT_US_2023_03_01:35426003 xref: UMLS_CUI:C0035333 is_a: DOID:5679 ! retinal disease [Term] id: DOID:3613 name: Canavan disease def: "A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13." [url:https\://pubmed.ncbi.nlm.nih.gov/2512436/, url:https\://pubmed.ncbi.nlm.nih.gov/3354621/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "ACY2 DEFICIENCY" EXACT [] synonym: "AMINOACYLASE 2 DEFICIENCY" EXACT [] synonym: "ASP DEFICIENCY" EXACT [] synonym: "ASPA DEFICIENCY" EXACT [] synonym: "ASPARTOACYLASE DEFICIENCY" EXACT [] synonym: "CANAVAN-VAN BOGAERT-BERTRAND DISEASE" EXACT [] synonym: "Spongy degeneration of central nervous system" EXACT [] xref: GARD:5984 xref: MESH:D017825 xref: MIM:271900 xref: NCI:C84611 xref: SNOMEDCT_US_2023_03_01:80544005 xref: UMLS_CUI:C0206307 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10579 ! leukodystrophy [Term] id: DOID:3614 name: Kallmann syndrome def: "A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26194704] subset: DO_rare_slim subset: NCIthesaurus synonym: "familial hypogonadism with anosmia" EXACT [] synonym: "Hypogonadism with anosmia" EXACT [] synonym: "Kallman syndrome" EXACT [] synonym: "Kallman's syndrome" EXACT [] xref: GARD:10771 xref: ICD10CM:E23.0 xref: MESH:D017436 xref: NCI:C75479 xref: ORDO:478 xref: SNOMEDCT_US_2023_03_01:190559001 xref: UMLS_CUI:C0162809 is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:3615 name: infiltrating angiolipoma def: "An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue." [url:https\://www.spandidos-publications.com/10.3892/ol.2014.2737] subset: NCIthesaurus synonym: "Angiolipoma, infiltrating" EXACT [] xref: NCI:C7449 xref: SNOMEDCT_US_2023_03_01:24045002 xref: UMLS_CUI:C1305256 is_a: DOID:3616 ! angiolipoma [Term] id: DOID:3616 name: angiolipoma def: "A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma." [url:http\://en.wikipedia.org/wiki/Angiolipoma] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8861/0 xref: MESH:D018206 xref: NCI:C3733 xref: SNOMEDCT_US_2023_03_01:404057003 xref: UMLS_CUI:C0206632 is_a: DOID:3315 ! lipoma property_value: exactMatch "MESH:D018206" xsd:string [Term] id: DOID:3617 name: epidural spinal canal angiolipoma subset: NCIthesaurus synonym: "Angiolipoma of Extradural Spinal canal" EXACT [] xref: NCI:C5424 xref: UMLS_CUI:C1333416 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:319 ! spinal cord disease is_a: DOID:3616 ! angiolipoma [Term] id: DOID:3618 name: epidural spinal canal neoplasm subset: NCIthesaurus synonym: "Extradural tumor" EXACT [] xref: MESH:D015174 xref: NCI:C3019 xref: SNOMEDCT_US_2023_03_01:1153337000 xref: UMLS_CUI:C0014536 is_a: DOID:5612 ! spinal cancer [Term] id: DOID:3620 name: central nervous system cancer alt_id: DOID:0060093 alt_id: DOID:1318 def: "A nervous system cancer that is located_in the central nervous system." [url:http\://en.wikipedia.org/wiki/Central_nervous_system] subset: NCIthesaurus synonym: "central nervous system tumor" EXACT [] synonym: "central nervous system tumors" EXACT [] synonym: "CNS neoplasm" EXACT [] synonym: "malignant neoplasm of central nervous system" EXACT [] synonym: "malignant tumor of CNS" EXACT [] synonym: "neoplasm of central nervous system" EXACT [] xref: EFO:0000326 xref: ICD10CM:C72.9 xref: MESH:D016543 xref: NCI:C4627 xref: NCI:C9293 xref: SNOMEDCT_US_2023_03_01:126951006 xref: SNOMEDCT_US_2023_03_01:93744007 xref: UMLS_CUI:C0085136 xref: UMLS_CUI:C0348374 is_a: DOID:3093 ! nervous system cancer is_a: DOID:331 ! central nervous system disease [Term] id: DOID:3621 name: obsolete central nervous system neuroepithelial neoplasm is_obsolete: true [Term] id: DOID:3627 name: aortic aneurysm alt_id: DOID:11138 alt_id: DOID:7682 alt_id: DOID:7692 alt_id: DOID:7703 def: "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size." [url:http\://en.wikipedia.org/wiki/Aortic_aneurysm] subset: NCIthesaurus synonym: "ruptured aortic aneurysm" EXACT [] xref: ICD10CM:I71.1 xref: ICD10CM:I71.3 xref: ICD10CM:I71.5 xref: ICD10CM:I71.8 xref: ICD10CM:I71.9 xref: ICD9CM:441.1 xref: ICD9CM:441.3 xref: ICD9CM:441.5 xref: ICD9CM:441.6 xref: MESH:D001014 xref: MESH:D001019 xref: NCI:C26697 xref: NCI:C27046 xref: NCI:C27198 xref: NCI:C27299 xref: SNOMEDCT_US_2023_03_01:14336007 xref: SNOMEDCT_US_2023_03_01:155419006 xref: SNOMEDCT_US_2023_03_01:195265003 xref: SNOMEDCT_US_2023_03_01:34365005 xref: SNOMEDCT_US_2023_03_01:73067008 xref: UMLS_CUI:C0003486 xref: UMLS_CUI:C0265010 xref: UMLS_CUI:C0265012 xref: UMLS_CUI:C0741160 xref: UMLS_CUI:C1305122 is_a: DOID:520 ! aortic disease property_value: exactMatch "MESH:D001014" xsd:string property_value: exactMatch "MESH:D001019" xsd:string [Term] id: DOID:363 name: uterine cancer alt_id: DOID:4363 def: "A female reproductive organ cancer that is located_in the uterus." [url:http\://www.cancer.gov/dictionary?CdrID=445094] subset: DO_cancer_slim subset: DO_CFDE_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "CA - cancer of uterus" EXACT [] synonym: "malignant neoplasm of uterus" EXACT [] synonym: "malignant uterine tumor" EXACT [] synonym: "neoplasm of uterus" EXACT [] synonym: "Tumour of uterus" EXACT [] synonym: "uterine tumor" EXACT [] synonym: "uterus neoplasm" EXACT [] xref: ICD10CM:C55 xref: ICD9CM:179 xref: MESH:D014594 xref: NCI:C3435 xref: NCI:C3552 xref: SNOMEDCT_US_2023_03_01:126908007 xref: SNOMEDCT_US_2023_03_01:371973000 xref: UMLS_CUI:C0042138 xref: UMLS_CUI:C0153567 is_a: DOID:120 ! female reproductive organ cancer is_a: DOID:345 ! uterine disease [Term] id: DOID:3633 name: beta-mannosidosis def: "A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism." [url:http\://en.wikipedia.org/wiki/Beta-mannosidosis] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Beta-D-mannosidosis" EXACT [] synonym: "beta-mannosidase deficiency" EXACT [] synonym: "lysosomal beta-mannosidase deficiency" EXACT [] xref: MESH:D044905 xref: MIM:248510 xref: NCI:C84596 xref: SNOMEDCT_US_2023_03_01:238047006 xref: UMLS_CUI:C4048196 is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:3635 name: congenital myasthenic syndrome def: "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic)." [url:http\://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:11902 xref: MESH:D020294 xref: MIM:PS601462 xref: NCI:C84647 xref: ORDO:590 xref: SNOMEDCT_US_2023_03_01:230672006 xref: UMLS_CUI:C0751882 is_a: DOID:0080015 ! physical disorder is_a: DOID:439 ! neuromuscular junction disease [Term] id: DOID:3636 name: obsolete commensal Desulfovibrionaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:3637 name: childhood spinal cord tumor subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood Spinal Cord neoplasm" EXACT [] xref: NCI:C9234 xref: UMLS_CUI:C1134515 is_a: DOID:5612 ! spinal cancer [Term] id: DOID:3639 name: spinal cord intramedullary teratoma subset: NCIthesaurus synonym: "Intramedullary Spinal teratoma" EXACT [] xref: NCI:C5428 xref: UMLS_CUI:C1334259 is_a: DOID:5612 ! spinal cancer [Term] id: DOID:364 name: obsolete spontaneous rupture of bladder synonym: "Nontraumatic rupture of bladder (disorder) [Ambiguous]" EXACT [] synonym: "Rupture of bladder, nontraumatic" EXACT [] synonym: "spontaneous rupture of bladder (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:3640 name: central nervous system teratoma def: "A teratoma that is located_in the central nervous system." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21150046] subset: NCIthesaurus synonym: "CNS teratoma" EXACT [] xref: NCI:C5441 xref: UMLS_CUI:C1332895 is_a: DOID:1115 ! sarcoma is_a: DOID:4439 ! central nervous system germ cell tumor [Term] id: DOID:3641 name: conus medullaris neoplasm subset: NCIthesaurus synonym: "tumor of Conus Medullaris" EXACT [] xref: NCI:C5443 xref: UMLS_CUI:C1333153 is_a: DOID:5612 ! spinal cancer [Term] id: DOID:3642 name: empty sella syndrome subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6331 xref: MESH:D004652 xref: NCI:C84686 xref: SNOMEDCT_US_2023_03_01:393569006 xref: UMLS_CUI:C0014008 is_a: DOID:53 ! pituitary gland disease property_value: exactMatch "MESH:D004652" xsd:string [Term] id: DOID:3643 name: sella turcica neoplasm subset: NCIthesaurus synonym: "tumor of Sella Turcica" EXACT [] xref: NCI:C4944 xref: UMLS_CUI:C0748616 is_a: DOID:3842 ! skull base cancer [Term] id: DOID:3644 name: hypothalamic neoplasm subset: NCIthesaurus synonym: "neoplasm of the Hypothalamus" EXACT [] synonym: "tumor of hypothalamus" EXACT [] xref: MESH:D007029 xref: NCI:C3129 xref: SNOMEDCT_US_2023_03_01:254968009 xref: UMLS_CUI:C0020659 is_a: DOID:1659 ! supratentorial cancer is_a: DOID:1931 ! hypothalamic disease [Term] id: DOID:3646 name: necrosis of pituitary subset: NCIthesaurus synonym: "Pituitary necrosis" EXACT [] xref: NCI:C27066 xref: SNOMEDCT_US_2023_03_01:59572000 xref: UMLS_CUI:C0271558 is_a: DOID:53 ! pituitary gland disease [Term] id: DOID:3648 name: obsolete inborn errors pyruvate metabolism synonym: "Inborn error of pyruvate metabolism (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:3649 name: pyruvate decarboxylase deficiency def: "A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex." [url:http\://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency, url:http\://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "deficiency of pyruvic dehydrogenase" EXACT [] synonym: "pyruvate dehydrogenase complex deficiency disease" EXACT [] synonym: "pyruvate dehydrogenase deficiency" EXACT [] xref: GARD:4620 xref: GARD:7513 xref: ICD10CM:E74.4 xref: MESH:D015325 xref: MIM:245348 xref: MIM:245349 xref: MIM:312170 xref: MIM:608782 xref: MIM:614111 xref: NCI:C103968 xref: ORDO:79243 xref: SNOMEDCT_US_2023_03_01:46683007 xref: UMLS_CUI:C0034345 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:365 name: bladder disease def: "A urinary system disease that is located_in the bladder." [url:http\://www.nlm.nih.gov/medlineplus/bladderdiseases.html] subset: NCIthesaurus synonym: "Urinary Bladder Disease" EXACT [] xref: ICD10CM:N32.9 xref: ICD9CM:596.9 xref: MESH:D001745 xref: NCI:C2900 xref: SNOMEDCT_US_2023_03_01:42643001 xref: UMLS_CUI:C0005686 is_a: DOID:18 ! urinary system disease [Term] id: DOID:3650 name: lactic acidosis def: "A metabolic acidosis characterized by buildup of lactate." [url:http\://en.wikipedia.org/wiki/Lactic_acidosis] subset: NCIthesaurus xref: ICD10CM:E87.20 xref: MESH:D000140 xref: NCI:C98969 xref: SNOMEDCT_US_2023_03_01:91273001 xref: UMLS_CUI:C0001125 is_a: DOID:0050758 ! metabolic acidosis [Term] id: DOID:3651 name: pyruvate carboxylase deficiency disease def: "A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis." [url:http\://omim.org/entry/266150, url:https\://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "deficiency of pyruvic carboxylase" EXACT [] xref: ICD10CM:E74.4 xref: MESH:D015324 xref: MIM:266150 xref: NCI:C85040 xref: SNOMEDCT_US_2023_03_01:87694001 xref: UMLS_CUI:C0034341 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:3652 name: Leigh disease def: "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity." [url:http\://en.wikipedia.org/wiki/Leigh%27s_disease, url:http\://ghr.nlm.nih.gov/condition/leigh-syndrome, url:https\://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/, url:https\://rarediseases.org/rare-diseases/leigh-syndrome/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Infantile necrotizing encephalomyelopathy" EXACT [] synonym: "juvenile subacute necrotizing encephalomyelopathy" EXACT [] synonym: "Leigh syndrome" EXACT [] synonym: "subacute necrotizing encephalomyelopathy" RELATED [] xref: GARD:6877 xref: ICD10CM:G31.82 xref: MESH:D007888 xref: MIM:256000 xref: NCI:C84814 xref: ORDO:506 xref: SNOMEDCT_US_2023_03_01:29570005 xref: UMLS_CUI:C0023264 is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease [Term] id: DOID:3653 name: obsolete laboratory infectious disease synonym: "laboratory infection" EXACT [] is_obsolete: true [Term] id: DOID:3659 name: sialuria def: "A lysosomal storage disease characterized by increased sialic acid in the urine." [url:http\://en.wikipedia.org/wiki/Sialuria, url:http\://www.ncbi.nlm.nih.gov/books/NBK1164/, url:http\://www.omim.org/entry/269921] comment: OMIM mapping confirmed by DO. [LS].\nOMIM mapping submitted by NeuroDevNet. [LS]. subset: NCIthesaurus xref: MESH:D029461 xref: MIM:269921 xref: MIM:604369 xref: NCI:C85067 xref: SNOMEDCT_US_2023_03_01:238051008 xref: UMLS_CUI:C0342853 is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:366 name: obsolete olfactory nerve neoplasm comment: this NCI term represents either benign or malignant[LS]. synonym: "neoplasm of olfactory nerve" EXACT [] synonym: "tumor of Olfactory nerve" EXACT [] is_obsolete: true [Term] id: DOID:3660 name: wheat allergy def: "A food allergy that develops_from exposure to and particularly consumption of wheat, and has_symptom that are both gastrointestinal and nongastrointestinal in nature, such as diarrhea, mouth and throat irritation, headache, hives, skin rashes, and anaphylaxis." [url:https\://www.mayoclinic.org/diseases-conditions/wheat-allergy/symptoms-causes/syc-20378897] subset: DO_IEDB_slim synonym: "allergy to wheat" EXACT [] synonym: "wheat allergic reaction" EXACT [] xref: MESH:D021182 xref: SNOMEDCT_US_2023_03_01:420174000 xref: UMLS_CUI:C0949570 is_a: DOID:3044 ! food allergy [Term] id: DOID:3663 name: cutaneous mastocytosis subset: DO_rare_slim subset: NCIthesaurus synonym: "CM" EXACT OMO:0003012 [] xref: GARD:7842 xref: ICD10CM:D47.01 xref: MESH:D034701 xref: NCI:C7137 xref: SNOMEDCT_US_2023_03_01:703827008 xref: UMLS_CUI:C1136033 is_a: DOID:350 ! mastocytosis is_a: DOID:37 ! skin disease [Term] id: DOID:3664 name: mast cell neoplasm def: "A hematologic cancer that has_material_basis_in mast cells." [url:http\://en.wikipedia.org/wiki/Mastocytoma, url:http\://www.cancer.gov/dictionary?CdrID=410729] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Mast cell Proliferative disease" EXACT [] synonym: "mast cell tumor" EXACT [] synonym: "mastocytoma" EXACT [] xref: ICD10CM:D47.09 xref: NCI:C9295 xref: SNOMEDCT_US_2023_03_01:127581004 xref: UMLS_CUI:C0334664 is_a: DOID:0050687 ! cell type cancer is_a: DOID:2531 ! hematologic cancer [Term] id: DOID:3665 name: diffuse cutaneous mastocytosis subset: DO_rare_slim subset: NCIthesaurus xref: GARD:12686 xref: ICD10CM:D47.01 xref: MESH:D034701 xref: NCI:C3218 xref: SNOMEDCT_US_2023_03_01:703826004 xref: UMLS_CUI:C0024901 is_a: DOID:3663 ! cutaneous mastocytosis [Term] id: DOID:3666 name: solitary mastocytoma of the skin def: "A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter." [url:https\://www.sciencedirect.com/science/article/pii/B9781416030317000127] subset: NCIthesaurus synonym: "cutaneous solitary mastocytoma" EXACT [] synonym: "Solitary mastocytoma" EXACT [] synonym: "Solitary Mastocytoma of skin" EXACT [] xref: ICD10CM:D47.01 xref: MESH:D054705 xref: NCI:C7138 xref: SNOMEDCT_US_2023_03_01:239147000 xref: UMLS_CUI:C0343115 is_a: DOID:3664 ! mast cell neoplasm [Term] id: DOID:3667 name: obsolete Cardiovirus infectious disease def: "A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus." [url:http\://vir.sgmjournals.org/cgi/content/full/91/6/1418] is_obsolete: true [Term] id: DOID:3668 name: obsolete Picornaviridae infectious disease def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses." [url:http\://en.wikipedia.org/wiki/Picornaviridae] is_obsolete: true [Term] id: DOID:3669 name: intermittent claudication synonym: "Charcot's syndrome" EXACT [] xref: ICD10CM:I73.9 xref: MESH:D007383 xref: SNOMEDCT_US_2023_03_01:195312007 xref: UMLS_CUI:C0021775 is_a: DOID:2349 ! arteriosclerosis [Term] id: DOID:367 name: olfactory nerve disease def: "A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell." [url:https\://en.wikipedia.org/wiki/Olfactory_nerve] subset: NCIthesaurus synonym: "disorder of 1st nerve" EXACT [] synonym: "disorder of olfactory [1st] nerve" EXACT [] synonym: "disorder of olfactory nerve" EXACT [] xref: ICD10CM:G52.0 xref: ICD9CM:352.0 xref: MESH:D020431 xref: NCI:C27210 xref: SNOMEDCT_US_2023_03_01:68982002 xref: UMLS_CUI:C0751937 is_a: DOID:3418 ! glossopharyngeal nerve disease [Term] id: DOID:3671 name: pericoronitis xref: MESH:D010497 xref: SNOMEDCT_US_2023_03_01:22240003 xref: UMLS_CUI:C0031055 is_a: DOID:1483 ! gingival disease [Term] id: DOID:3672 name: rhabdoid cancer def: "A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system." [url:https\://rarediseases.info.nih.gov/diseases/7572/rhabdoid-tumor] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "malignant rhabdoid tumour" EXACT [] synonym: "Rhabdoid sarcoma" EXACT [] synonym: "rhabdoid tumor" RELATED [] xref: GARD:7572 xref: MESH:D018335 xref: NCI:C3808 xref: SNOMEDCT_US_2023_03_01:83118000 xref: UMLS_CUI:C0206743 is_a: DOID:3675 ! childhood kidney cancer property_value: exactMatch "MESH:D018335" xsd:string [Term] id: DOID:3674 name: kidney rhabdoid cancer def: "A embryonal cancer that is located in the kidney." [url:https\://pubmed.ncbi.nlm.nih.gov/32853941/] subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "kidney rhabdoid tumor" RELATED [] synonym: "renal Rhabdoid tumor" EXACT [] synonym: "rhabdoid tumor of the kidney" EXACT [] xref: NCI:C8715 xref: UMLS_CUI:C0854917 is_a: DOID:3672 ! rhabdoid cancer [Term] id: DOID:3675 name: childhood kidney cancer subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric renal tumor" EXACT [] xref: NCI:C6563 xref: UMLS_CUI:C1333003 is_a: DOID:263 ! kidney cancer [Term] id: DOID:3677 name: pulmonary plasma cell granuloma def: "A lung disease that is characterized by an inflammatory lesion that is composed of plasma cells and fibrous tissue." [url:https\://pubmed.ncbi.nlm.nih.gov/2336294/] synonym: "granuloma, plasma cell, pulmonary" EXACT [] synonym: "Lymphocytic pseudotumor of lung" EXACT [] synonym: "Sclerosing hemangiocytoma of lung" EXACT [] xref: MESH:D016726 xref: SNOMEDCT_US_2023_03_01:707373004 xref: UMLS_CUI:C0085269 is_a: DOID:850 ! lung disease [Term] id: DOID:368 name: cerebrum cancer alt_id: DOID:912 def: "A supratentorial cancer that is located_in the cerebrum." [url:http\://en.wikipedia.org/wiki/Cerebrum] subset: NCIthesaurus synonym: "cerebral cancer" EXACT [] synonym: "neoplasm of cerebrum" EXACT [] synonym: "tumor of Cerebrum" EXACT [] xref: ICD9CM:191.8 xref: NCI:C4874 xref: SNOMEDCT_US_2023_03_01:126953009 xref: SNOMEDCT_US_2023_03_01:188300006 xref: UMLS_CUI:C0153642 xref: UMLS_CUI:C1263885 is_a: DOID:1659 ! supratentorial cancer [Term] id: DOID:3680 name: obsolete malignant neoplasm of lip, oral cavity and pharynx alt_id: DOID:8722 alt_id: DOID:8862 alt_id: DOID:8894 alt_id: DOID:8952 synonym: "malignant neoplasm of mouth" EXACT [] synonym: "malignant neoplasm of mouth NOS (disorder)" EXACT [] synonym: "malignant neoplasm of mouth, unspecified" EXACT [] synonym: "malignant neoplasm of oral cavity NOS" EXACT [] synonym: "malignant neoplasm of other specified mouth parts (disorder)" EXACT [] synonym: "malignant neoplasm of other specified parts of mouth" EXACT [] synonym: "malignant neoplasm of palate NOS (disorder)" EXACT [] synonym: "malignant neoplasm of palate unspecified (disorder)" EXACT [] synonym: "malignant neoplasm of palate, unspecified" EXACT [] synonym: "malignant neoplasm of pharynx" EXACT [] synonym: "malignant neoplasm of pharynx unspecified (disorder)" EXACT [] synonym: "malignant neoplasm of pharynx, NOS" EXACT [] synonym: "malignant neoplasm of pharynx, unspecified" EXACT [] synonym: "malignant neoplasm of roof of mouth" EXACT [] synonym: "malignant Oral cavity neoplasm" EXACT [] synonym: "malignant Oral neoplasm" EXACT [] synonym: "malignant Pharyngeal tumor" EXACT [] synonym: "malignant tumor of oral cavity (disorder)" EXACT [] synonym: "malignant tumor of palate (disorder)" EXACT [] synonym: "malignant tumor of pharynx (disorder)" EXACT [] synonym: "malignant tumor of the Palate" EXACT [] synonym: "malignant tumour of mouth" EXACT [] is_obsolete: true [Term] id: DOID:3683 name: lung benign neoplasm subset: NCIthesaurus synonym: "tumor of the lung" EXACT [] xref: MESH:D008175 xref: NCI:C3200 xref: SNOMEDCT_US_2023_03_01:126713003 xref: UMLS_CUI:C0024121 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:850 ! lung disease [Term] id: DOID:3686 name: obsolete Helicobacter pylori infectious disease subset: gram-negative_bacterial_infectious_disease synonym: "Helicobacter Pylori Infection" EXACT [] is_obsolete: true [Term] id: DOID:3687 name: MELAS syndrome def: "A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins." [url:https\://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes#genes] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES" EXACT [] xref: ICD10CM:E88.41 xref: MESH:D017241 xref: MIM:540000 xref: NCI:C84885 xref: SNOMEDCT_US_2023_03_01:39925003 xref: UMLS_CUI:C0162671 is_a: DOID:890 ! mitochondrial encephalomyopathy [Term] id: DOID:3688 name: plexopathy subset: NCIthesaurus xref: NCI:C27744 xref: UMLS_CUI:C1335437 is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:3689 name: brachial plexus neuritis def: "A brachial plexus neuropathy that affects the chest, shoulder, arm and hand." [url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/brachial-neuritis] subset: NCIthesaurus synonym: "Brachial neuritis" EXACT [] synonym: "Parsonage-Aldren-Turner syndrome" EXACT [] xref: ICD10CM:G54.5 xref: MESH:D020968 xref: NCI:C84600 xref: SNOMEDCT_US_2023_03_01:26609002 xref: UMLS_CUI:C0221759 is_a: DOID:1803 ! neuritis is_a: DOID:3690 ! brachial plexus neuropathy [Term] id: DOID:369 name: olfactory neuroblastoma subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Asthesioneuroblastoma" EXACT [] synonym: "Esthesioneuroblastoma" EXACT [] synonym: "Esthesioneuroepithelioma" EXACT [] synonym: "Olfactory Esthesioneuroblastoma" EXACT [] synonym: "paranasal sinus Olfactory neuroblastoma" EXACT [] xref: GARD:2197 xref: ICDO:9522/3 xref: MESH:D018304 xref: NCI:C3789 xref: SNOMEDCT_US_2023_03_01:76060004 xref: UMLS_CUI:C0206717 is_a: DOID:370 ! malignant olfactory nerve neoplasm [Term] id: DOID:3690 name: brachial plexus neuropathy def: "A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves." [url:https\://pubmed.ncbi.nlm.nih.gov/30688233/, url:https\://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061] subset: NCIthesaurus synonym: "brachial plexopathy" EXACT [] synonym: "Brachial plexus disorder" EXACT [] xref: ICD10CM:G54.0 xref: MESH:D020516 xref: NCI:C27194 xref: SNOMEDCT_US_2023_03_01:3548001 xref: UMLS_CUI:C0700251 is_a: DOID:870 ! neuropathy [Term] id: DOID:3691 name: anal colloid adenocarcinoma def: "An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "mucinous adenocarcinoma of anus" EXACT [] xref: NCI:C5606 xref: UMLS_CUI:C1332272 is_a: DOID:3447 ! anus adenocarcinoma [Term] id: DOID:3692 name: anal canal adenocarcinoma def: "An anal canal cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of anal canal" RELATED [] synonym: "adenocarcinoma of the anal canal" EXACT [] xref: NCI:C7471 xref: SNOMEDCT_US_2023_03_01:764845008 xref: UMLS_CUI:C1332259 is_a: DOID:0050688 ! anal canal cancer is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:3693 name: ampulla of Vater mucinous adenocarcinoma subset: NCIthesaurus xref: NCI:C27416 xref: UMLS_CUI:C1332248 is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:3502 ! ampulla of Vater adenocarcinoma [Term] id: DOID:3694 name: obsolete adnexal mucinous adenocarcinoma is_obsolete: true [Term] id: DOID:3695 name: obsolete adnexa adenocarcinoma synonym: "adenocarcinoma of the adnexa" RELATED [] synonym: "adenocarcinoma of the skin Appendage" EXACT [] is_obsolete: true [Term] id: DOID:3696 name: acute sanguinous otitis media def: "A acute transudative otitis media which involves bloody effusion." [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false] xref: ICD9CM:381.03 xref: SNOMEDCT_US_2023_03_01:77478005 xref: UMLS_CUI:C0395865 is_a: DOID:3697 ! acute transudative otitis media [Term] id: DOID:3697 name: acute transudative otitis media def: "A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course." [url:http\://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/1195971] synonym: "acute non-suppurative otitis media" EXACT [] synonym: "acute nonsuppurative otitis media" EXACT [] synonym: "acute otitis media with effusion" EXACT [] synonym: "acute secretory otitis media" EXACT [] xref: ICD9CM:381.0 xref: SNOMEDCT_US_2023_03_01:35183001 xref: UMLS_CUI:C0271432 is_a: DOID:11180 ! non-suppurative otitis media [Term] id: DOID:3698 name: bile duct mucinous adenocarcinoma subset: NCIthesaurus synonym: "mucinous carcinoma of the bile duct" EXACT [] xref: NCI:C5846 xref: UMLS_CUI:C0861856 is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:4896 ! bile duct adenocarcinoma [Term] id: DOID:3699 name: uterine ligament mucinous adenocarcinoma def: "A uterine ligament adenocarcinoma that produces mucin." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C40137] subset: NCIthesaurus xref: NCI:C40137 xref: UMLS_CUI:C5557429 is_a: DOID:3700 ! uterine ligament adenocarcinoma [Term] id: DOID:37 name: skin disease alt_id: DOID:1576 alt_id: DOID:1698 alt_id: DOID:187 alt_id: DOID:6486 alt_id: DOID:8948 def: "An integumentary system disease that is located_in skin." [url:http\://en.wikipedia.org/wiki/Skin_disease] subset: DO_RAD_slim subset: NCIthesaurus synonym: "Genodermatosis" EXACT [] synonym: "skin and subcutaneous tissue disease" EXACT [] xref: ICD9CM:702 xref: MESH:D012871 xref: MESH:D012873 xref: NCI:C156032 xref: NCI:C3371 xref: SNOMEDCT_US_2023_03_01:201095006 xref: SNOMEDCT_US_2023_03_01:5613003 xref: SNOMEDCT_US_2023_03_01:95320005 xref: UMLS_CUI:C0029574 xref: UMLS_CUI:C0037274 xref: UMLS_CUI:C0037277 is_a: DOID:16 ! integumentary system disease [Term] id: DOID:370 name: malignant olfactory nerve neoplasm subset: NCIthesaurus synonym: "malignant olfactory nerve tumor" EXACT [] synonym: "malignant tumor of Olfactory nerve" EXACT [] synonym: "primary malignant neoplasm of olfactory nerve" EXACT [] xref: ICD10CM:C72.2 xref: NCI:C4768 xref: UMLS_CUI:C0496838 is_a: DOID:2815 ! cranial nerve malignant neoplasm [Term] id: DOID:3700 name: uterine ligament adenocarcinoma def: "A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26699941] subset: NCIthesaurus xref: NCI:C40135 xref: UMLS_CUI:C5557428 is_a: DOID:5727 ! uterine ligament cancer [Term] id: DOID:3701 name: cervical mucinous adenocarcinoma def: "A cervical adenocarcinoma that derives_from mucin producing epithelial cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24199926] subset: NCIthesaurus xref: NCI:C36095 xref: UMLS_CUI:C1332919 is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:3702 ! cervical adenocarcinoma [Term] id: DOID:3702 name: cervical adenocarcinoma def: "A cervix carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "adenocarcinoma cervix uteri" EXACT [] synonym: "adenocarcinoma of cervix" EXACT [] synonym: "adenocarcinoma of the uterine Cervix" EXACT [] xref: NCI:C4029 xref: SNOMEDCT_US_2023_03_01:254887002 xref: UMLS_CUI:C0279672 is_a: DOID:2893 ! cervix carcinoma is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:3703 name: prostate colloid adenocarcinoma def: "A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11145249] subset: NCIthesaurus synonym: "acinar Colloid prostate adenocarcinoma" EXACT [] xref: NCI:C5537 xref: UMLS_CUI:C1335513 is_a: DOID:2526 ! prostate adenocarcinoma [Term] id: DOID:3704 name: fallopian tube mucinous adenocarcinoma def: "A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987967/] subset: NCIthesaurus xref: NCI:C40103 xref: UMLS_CUI:C1517119 is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:3706 ! fallopian tube adenocarcinoma [Term] id: DOID:3705 name: fallopian tube mucinous tumor def: "A fallopian tube benign neoplasm that produces mucin." [url:https\://pubmed.ncbi.nlm.nih.gov/26894303/] subset: NCIthesaurus xref: NCI:C40109 xref: UMLS_CUI:C1517120 is_a: DOID:0060111 ! fallopian tube benign neoplasm [Term] id: DOID:3706 name: fallopian tube adenocarcinoma def: "A fallopian tube carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of the fallopian tube" EXACT [] xref: NCI:C6265 xref: UMLS_CUI:C1333590 is_a: DOID:1963 ! fallopian tube carcinoma is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:3707 name: endometrial mucinous adenocarcinoma def: "An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22569105] subset: NCIthesaurus synonym: "uterine Corpus mucinous adenocarcinoma" EXACT [] xref: NCI:C40144 xref: UMLS_CUI:C1519859 is_a: DOID:2870 ! endometrial adenocarcinoma is_a: DOID:3030 ! mucinous adenocarcinoma [Term] id: DOID:3709 name: rectum mucinous adenocarcinoma def: "A rectal adenocarcinoma that produces mucin." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110493/] subset: NCIthesaurus synonym: "Colloidal adenocarcinoma of rectum" EXACT [] xref: NCI:C7973 xref: UMLS_CUI:C0279652 is_a: DOID:1996 ! rectum adenocarcinoma is_a: DOID:3030 ! mucinous adenocarcinoma [Term] id: DOID:371 name: extracranial neuroblastoma subset: NCIthesaurus xref: NCI:C5437 xref: UMLS_CUI:C1333499 is_a: DOID:769 ! neuroblastoma [Term] id: DOID:3710 name: bladder colloid adenocarcinoma subset: NCIthesaurus xref: NCI:C39837 xref: UMLS_CUI:C1511193 is_a: DOID:3711 ! bladder adenocarcinoma [Term] id: DOID:3711 name: bladder adenocarcinoma def: "A bladder carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of bladder" EXACT [] synonym: "adenocarcinoma of the urinary bladder" EXACT [] synonym: "bladder adenocarcinoma, Not Otherwise Specified" EXACT [] xref: NCI:C4032 xref: SNOMEDCT_US_2023_03_01:255110003 xref: UMLS_CUI:C0279682 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4007 ! bladder carcinoma [Term] id: DOID:3713 name: ovary adenocarcinoma alt_id: DOID:7816 def: "An ovarian carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of the ovary" RELATED [] synonym: "ovarian adenoacanthoma" EXACT [] synonym: "Ovarian adenocarcinoma" EXACT [] xref: NCI:C7700 xref: UMLS_CUI:C0948216 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4001 ! ovarian carcinoma [Term] id: DOID:3715 name: obsolete non-suppurative otitis media and eustachian tube disorder def: "A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/1195971] is_obsolete: true [Term] id: DOID:3716 name: mucinous stomach adenocarcinoma subset: NCIthesaurus synonym: "mucinous adenocarcinoma of the stomach" EXACT [] xref: NCI:C5248 xref: UMLS_CUI:C1334809 is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:6217 ! gastric diffuse adenocarcinoma [Term] id: DOID:3717 name: gastric adenocarcinoma def: "A stomach carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "adenocarcinoma of stomach" EXACT [] synonym: "stomach adenocarcinoma" EXACT [] xref: NCI:C4004 xref: SNOMEDCT_US_2023_03_01:408647009 xref: UMLS_CUI:C0278701 is_a: DOID:299 ! adenocarcinoma is_a: DOID:5517 ! stomach carcinoma [Term] id: DOID:3718 name: obsolete Arterivirus infectious disease def: "A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus." [url:http\://en.wikipedia.org/wiki/Arterivirus] is_obsolete: true [Term] id: DOID:3720 name: extramedullary plasmacytoma subset: NCIthesaurus synonym: "extraosseous plasmacytoma" EXACT [] synonym: "plasmacytoma, extramedullary" EXACT [] xref: ICD10CM:C90.2 xref: NCI:C4002 xref: SNOMEDCT_US_2023_03_01:128921005 xref: UMLS_CUI:C0278619 is_a: DOID:3721 ! plasmacytoma [Term] id: DOID:3721 name: plasmacytoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Myeloma - solitary" EXACT [] synonym: "Myeloma, solitary" EXACT [] synonym: "Solitary myeloma" EXACT [] synonym: "Solitary plasmacytoma" EXACT [] xref: ICD10CM:C90.3 xref: ICDO:9731/3 xref: MESH:D010954 xref: NCI:C9349 xref: SNOMEDCT_US_2023_03_01:302852008 xref: UMLS_CUI:C0032131 is_a: DOID:6536 ! plasma cell neoplasm [Term] id: DOID:3722 name: solitary osseous plasmacytoma subset: NCIthesaurus synonym: "Isolated osseous plasmacytoma" EXACT [] synonym: "Solitary plasmacytoma of bone" EXACT [] xref: NCI:C7812 xref: SNOMEDCT_US_2023_03_01:42215000 xref: UMLS_CUI:C0272256 is_a: DOID:3721 ! plasmacytoma [Term] id: DOID:3723 name: solitary plasmacytoma of chest wall subset: NCIthesaurus synonym: "Solitary plasmacytoma of the Chest Wall" EXACT [] xref: NCI:C6711 xref: UMLS_CUI:C1332936 is_a: DOID:3721 ! plasmacytoma [Term] id: DOID:3726 name: obsolete puerperal disease synonym: "disorder of puerperium (disorder)" EXACT [] synonym: "disorder of the puerperium" EXACT [] synonym: "puerperal disorder" EXACT [] is_obsolete: true [Term] id: DOID:3728 name: acute allergic sanguinous otitis media def: "A acute sanguinous otitis media caused by an allergen." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15301306] xref: ICD9CM:381.06 xref: SNOMEDCT_US_2023_03_01:194243008 xref: UMLS_CUI:C0155420 is_a: DOID:1205 ! allergic disease is_a: DOID:3696 ! acute sanguinous otitis media [Term] id: DOID:3729 name: obsolete Respirovirus infectious disease def: "A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person." [url:http\://expasy.org/viralzone/all_by_species/87.html] synonym: "disease due to Paramyxovirus (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:373 name: obsolete infant nutrition disorder synonym: "infant nutrition disorder" EXACT [] is_obsolete: true [Term] id: DOID:3730 name: obsolete pneumonic pasteurellosis def: "A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia." [url:http\://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121216.htm] subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Pneumonic pasteurellosis" EXACT [] is_obsolete: true [Term] id: DOID:3731 name: obsolete primary Pasteurellaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:3732 name: obsolete bovine respiratory disease complex def: "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." [url:http\://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121205.htm, url:http\://www.jstor.org/stable/pdfplus/1349519.pdf] is_obsolete: true [Term] id: DOID:3733 name: theileriasis def: "A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks." [url:http\://en.wikipedia.org/wiki/East_Coast_fever] subset: DO_infectious_disease_slim subset: tick-borne_infectious_disease synonym: "Infection by Theileria" EXACT [] synonym: "theileriosis" EXACT [] xref: MESH:D013801 xref: SNOMEDCT_US_2023_03_01:68771000 xref: UMLS_CUI:C0039753 is_a: DOID:2789 ! parasitic protozoa infectious disease [Term] id: DOID:3737 name: verrucous carcinoma def: "A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium." [url:http\://en.wikipedia.org/wiki/Verrucous_carcinoma] subset: NCIthesaurus synonym: "verrucous squamous carcinoma" EXACT [] synonym: "verrucous squamous cell carcinoma" EXACT [] synonym: "Warty carcinoma" EXACT [] xref: ICDO:8051/3 xref: MESH:D018289 xref: NCI:C3781 xref: SNOMEDCT_US_2023_03_01:89906000 xref: UMLS_CUI:C0206706 is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:3739 name: obsolete human papillomavirus related squamous cell carcinoma def: "A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomavirus (types 16, or 18), which cause malignant tumors in squamous epithelium in genital and periungual areas." [url:http\://emedicine.medscape.com/article/219110-overview, url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma] synonym: "HPV-Related squamous cell carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:374 name: nutrition disease def: "An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods." [url:http\://www.who.int/topics/nutrition_disorders/en/] subset: NCIthesaurus synonym: "Nutritional disorder" EXACT [] xref: MESH:D009748 xref: NCI:C26836 xref: SNOMEDCT_US_2023_03_01:191077005 xref: UMLS_CUI:C3714509 is_a: DOID:0060158 ! acquired metabolic disease [Term] id: DOID:3740 name: vulva verrucous carcinoma def: "A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429114/] subset: NCIthesaurus synonym: "verrucous carcinoma of Vulva" EXACT [] xref: NCI:C6383 xref: UMLS_CUI:C1336983 is_a: DOID:2101 ! vulva squamous cell carcinoma [Term] id: DOID:3741 name: bladder verrucous squamous cell carcinoma subset: NCIthesaurus xref: NCI:C39832 xref: UMLS_CUI:C1511208 is_a: DOID:3742 ! bladder squamous cell carcinoma [Term] id: DOID:3742 name: bladder squamous cell carcinoma def: "A carcinoma of bladder that is manifested in squamous cells of the bladder." [url:http\://www.cancer.gov/cancertopics/types/bladder] subset: NCIthesaurus synonym: "Epidermoid carcinoma of the urinary bladder" EXACT [] synonym: "squamous cell carcinoma of bladder" EXACT [] xref: NCI:C4031 xref: SNOMEDCT_US_2023_03_01:255111004 xref: UMLS_CUI:C0279681 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4007 ! bladder carcinoma [Term] id: DOID:3743 name: cervical verrucous carcinoma def: "A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18214065] subset: NCIthesaurus xref: NCI:C40190 xref: UMLS_CUI:C1516435 is_a: DOID:3744 ! cervical squamous cell carcinoma [Term] id: DOID:3744 name: cervical squamous cell carcinoma def: "A cervix carcinoma that has_material_basis_in squamous cells of the cervix." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=752829] subset: DO_cancer_slim subset: NCIthesaurus synonym: "squamous cell carcinoma of cervix" EXACT [] synonym: "squamous cell carcinoma of the Cervix Uteri" EXACT [] xref: NCI:C4028 xref: SNOMEDCT_US_2023_03_01:254886006 xref: UMLS_CUI:C0279671 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:2893 ! cervix carcinoma [Term] id: DOID:3747 name: esophagus verrucous carcinoma subset: NCIthesaurus synonym: "oesophagus verrucous carcinoma" EXACT [] synonym: "verrucous carcinoma of esophagus" EXACT [] synonym: "verrucous carcinoma of oesophagus" EXACT [] synonym: "verrucous carcinoma of the esophagus" RELATED [] xref: NCI:C27420 xref: UMLS_CUI:C1333470 is_a: DOID:3748 ! esophagus squamous cell carcinoma [Term] id: DOID:3748 name: esophagus squamous cell carcinoma def: "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus." [url:http\://www.cancer.gov/cancertopics/types/esophageal] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: NCIthesaurus synonym: "oesophagus squamous cell carcinoma" EXACT [] synonym: "SCC of esophagus" EXACT [] synonym: "SCC of oesophagus" EXACT [] xref: MESH:D000077277 xref: NCI:C4024 xref: SNOMEDCT_US_2023_03_01:276804009 xref: UMLS_CUI:C0279626 is_a: DOID:1107 ! esophageal carcinoma is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:3749 name: urethral verrucous carcinoma subset: NCIthesaurus xref: NCI:C39874 xref: UMLS_CUI:C1519827 is_a: DOID:3750 ! urethra squamous cell carcinoma [Term] id: DOID:3750 name: urethra squamous cell carcinoma def: "A cancer of urethra that shows squamous cell differentiation." [url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma] subset: NCIthesaurus synonym: "urethral Epidermoid carcinoma" EXACT [] xref: NCI:C6165 xref: UMLS_CUI:C1336890 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:734 ! urethra cancer [Term] id: DOID:3751 name: plantar verrucous skin carcinoma subset: NCIthesaurus xref: NCI:C6811 xref: SNOMEDCT_US_2023_03_01:254655003 xref: UMLS_CUI:C0349657 is_a: DOID:3151 ! skin squamous cell carcinoma [Term] id: DOID:3752 name: larynx verrucous carcinoma subset: NCIthesaurus synonym: "verrucous carcinoma of the Larynx" EXACT [] xref: NCI:C8188 xref: UMLS_CUI:C0280328 is_a: DOID:2876 ! laryngeal squamous cell carcinoma [Term] id: DOID:3753 name: Hermansky-Pudlak syndrome def: "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin." [url:http\://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome, url:http\://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6643 xref: ICD10CM:E70.331 xref: MESH:D022861 xref: MIM:PS203300 xref: NCI:C37261 xref: ORDO:231531 xref: ORDO:231537 xref: ORDO:280663 xref: ORDO:79430 xref: SNOMEDCT_US_2023_03_01:60255003 xref: UMLS_CUI:C0079504 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:3755 name: antithrombin III deficiency def: "A thrombophilia that is characterized by the tendency to form clots in the veins." [url:http\://en.wikipedia.org/wiki/Antithrombin_III_deficiency, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/99/viewAbstract] comment: Xref MGI. subset: NCIthesaurus synonym: "AT III deficiency" EXACT [] synonym: "hereditary thrombophilia due to congenital antithrombin deficiency" EXACT [] xref: ICD10CM:D68.59 xref: MESH:D020152 xref: MIM:613118 xref: NCI:C98815 xref: SNOMEDCT_US_2023_03_01:36351005 xref: UMLS_CUI:C0272375 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:3756 name: protein C deficiency def: "A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14." [url:https\://pubmed.ncbi.nlm.nih.gov/10942114/] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:4521 xref: ICD10CM:D68.59 xref: MESH:D020151 xref: NCI:C99025 xref: ORDO:745 xref: SNOMEDCT_US_2023_03_01:76407009 xref: UMLS_CUI:C0398625 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:3758 name: obsolete Fusobacterium infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:3762 name: cytochrome-c oxidase deficiency disease def: "A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation." [url:https\://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders, url:https\://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/26846578] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "MITOCHONDRIAL COMPLEX IV DEFICIENCY" EXACT [] xref: GARD:48 xref: MESH:D030401 xref: MIM:PS220110 xref: NCI:C98910 xref: SNOMEDCT_US_2023_03_01:237991006 xref: UMLS_CUI:C0268237 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:3763 name: hermaphroditism subset: NCIthesaurus xref: MESH:D012734 xref: NCI:C45909 xref: SNOMEDCT_US_2023_03_01:52572004 xref: UMLS_CUI:C0019269 is_a: DOID:1923 ! disorder of sexual development [Term] id: DOID:3764 name: Denys-Drash syndrome def: "A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene)." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049926/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=220&lng=EN] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5576 xref: MESH:D030321 xref: MIM:194080 xref: NCI:C84668 xref: SNOMEDCT_US_2023_03_01:236385009 xref: UMLS_CUI:C0950121 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:3765 name: pseudohermaphroditism alt_id: DOID:11226 subset: NCIthesaurus synonym: "Indeterminate sex and pseudohermaphroditism" EXACT [] xref: ICD10CM:Q56 xref: ICD10CM:Q56.3 xref: ICD9CM:752.7 xref: MESH:D012734 xref: NCI:C124575 xref: SNOMEDCT_US_2023_03_01:204895009 xref: SNOMEDCT_US_2023_03_01:268328009 xref: UMLS_CUI:C0021193 xref: UMLS_CUI:C0033804 is_a: DOID:1923 ! disorder of sexual development [Term] id: DOID:3766 name: leukorrhea def: "A vaginal discharge that is characterized by a whitish or yellow color." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27773511] subset: NCIthesaurus synonym: "discharge - leukorrhea" EXACT [] synonym: "Leukorrhea of vagina" EXACT [] xref: ICD10CM:N89.8 xref: MESH:D007973 xref: NCI:C34775 xref: SNOMEDCT_US_2023_03_01:156017008 xref: UMLS_CUI:C0023533 is_a: DOID:3767 ! vaginal discharge [Term] id: DOID:3767 name: vaginal discharge def: "A vaginal disease that is characterized by the presence of discharge." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23889917] xref: MESH:D019522 xref: SNOMEDCT_US_2023_03_01:70856007 xref: UMLS_CUI:C0227791 is_a: DOID:121 ! vaginal disease [Term] id: DOID:3770 name: pulmonary fibrosis def: "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes." [url:https\://www.lung.org/lung-health-diseases/lung-disease-lookup/pulmonary-fibrosis, url:https\://www.sciencedirect.com/science/article/pii/S0954611106004331] subset: NCIthesaurus synonym: "Fibrosis of lung" EXACT [] xref: MESH:D011658 xref: NCI:C26869 xref: SNOMEDCT_US_2023_03_01:155613001 xref: UMLS_CUI:C0034069 is_a: DOID:3082 ! interstitial lung disease [Term] id: DOID:3772 name: intraventricular meningioma subset: NCIthesaurus xref: MESH:D008579 xref: NCI:C5273 xref: UMLS_CUI:C1334271 is_a: DOID:3565 ! meningioma [Term] id: DOID:3773 name: obsolete third ventricle chordoid glioma is_obsolete: true [Term] id: DOID:3774 name: chordoid glioma alt_id: DOID:3773 def: "A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates." [url:https\://pubmed.ncbi.nlm.nih.gov/28315998/, url:https\://www.frontiersin.org/articles/10.3389/fonc.2020.00502/full] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Chordoid glioma of 3rd Ventricle" EXACT [] synonym: "Chordoid glioma of third ventricle" EXACT [] synonym: "third ventricle chordoid glioma" EXACT [] xref: ICDO:9444/1 xref: NCI:C5592 xref: ORDO:251674 xref: SNOMEDCT_US_2023_03_01:128789002 xref: UMLS_CUI:C1322252 is_a: DOID:3070 ! high grade glioma is_a: DOID:3541 ! cerebral ventricle cancer [Term] id: DOID:3777 name: granuloma annulare subset: DO_rare_slim subset: NCIthesaurus synonym: "Granulome annulare" EXACT [] xref: GARD:6546 xref: ICD10CM:L92.0 xref: MESH:D016460 xref: NCI:C3470 xref: SNOMEDCT_US_2023_03_01:200953005 xref: UMLS_CUI:C0085074 is_a: DOID:2723 ! dermatitis [Term] id: DOID:3781 name: anovulation def: "An ovarian disease that is characterized by the absence of ovulation." [url:https\://en.wikipedia.org/wiki/Anovulation] subset: NCIthesaurus xref: MESH:D000858 xref: NCI:C34388 xref: SNOMEDCT_US_2023_03_01:34571000 xref: UMLS_CUI:C0003128 is_a: DOID:1100 ! ovarian disease [Term] id: DOID:3783 name: Coffin-Lowry syndrome def: "A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22." [url:https\://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#inheritance] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6123 xref: MESH:D038921 xref: MIM:303600 xref: NCI:C84643 xref: SNOMEDCT_US_2023_03_01:15182000 xref: UMLS_CUI:C0265252 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:379 name: external ear disease alt_id: DOID:13122 alt_id: DOID:835 def: "An auditory system disease that is located_in the external ear." [url:https\://app1.unmc.edu/medicine/heywood/otology/unit3-external-ear-disease-diagnosis.cfm] subset: NCIthesaurus synonym: "Preauricular cyst" EXACT [] synonym: "Preauricular sinus and fistula" EXACT [] synonym: "Preauricular sinus or fistula" EXACT [] xref: ICD10CM:H61.9 xref: ICD9CM:380 xref: NCI:C26972 xref: SNOMEDCT_US_2023_03_01:49130001 xref: UMLS_CUI:C0155388 is_a: DOID:2742 ! auditory system disease [Term] id: DOID:3798 name: pleural empyema alt_id: DOID:11023 alt_id: DOID:13630 alt_id: DOID:14304 def: "A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath." [url:http\://en.wikipedia.org/wiki/Pleural_empyema, url:http\://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=Pleural%20empyema%20&alt=sh] comment: Updating outdated UMLS CUI. subset: NCIthesaurus synonym: "abscess of pleural cavity" EXACT [] synonym: "abscess of thorax" EXACT [] synonym: "empyema" EXACT [] synonym: "Empyema of pleura" EXACT [] synonym: "Empyema of pleura without fistula" EXACT [] synonym: "empyema with fistula" EXACT [] synonym: "Empyema with no fistula" EXACT [] synonym: "Empyema with pleural fistula" EXACT [] synonym: "Empyema without mention of fistula" EXACT [] synonym: "Empyema, chest" EXACT [] synonym: "lung empyema" EXACT [] synonym: "Pleural empyema with fistula" EXACT [] synonym: "pleural empyema with no fistula" EXACT [] synonym: "Purulent pleurisy" EXACT [] synonym: "purulent pleuritis" EXACT [] synonym: "pyothorax" EXACT [] synonym: "Thorax abscess" EXACT [] xref: ICD10CM:J86 xref: MESH:D016724 xref: NCI:C45692 xref: SNOMEDCT_US_2023_03_01:196069007 xref: UMLS_CUI:C0014013 is_a: DOID:1532 ! pleural disease [Term] id: DOID:3799 name: obsolete feline panleukopenia def: "A viral infectious disease that results_in ulceration located_in intestinal epithelium of cats, which has_material_basis_in Feline panleukopenia virus, transmitted_by contact with an infected cat's bodily fluids, feces, or fleas. The infection has_symptom bloody diarrhea, has_symptom dehydration, has_symptom anemia, and has_symptom vomiting." [url:http\://en.wikipedia.org/wiki/Feline_panleukopenia] synonym: "Feline panleukemia" EXACT [] is_obsolete: true [Term] id: DOID:3800 name: obsolete avian leukosis def: "A viral infectious disease that results_in infection in birds, has_material_basis_in Avian leukosis virus, which causes wide range of tumors." [url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/203603.htm] synonym: "Tumor Virus Infections" RELATED [] is_obsolete: true [Term] id: DOID:3803 name: Crigler-Najjar syndrome def: "A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT)." [url:https\://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Bilirubin UDP glucuronyl transferase deficiency" EXACT [] synonym: "Crigler Najjar syndrome" EXACT [] synonym: "Crigler-Najjar syndrome, type I" EXACT [] xref: MESH:D003414 xref: MIM:218800 xref: ORDO:205 xref: SNOMEDCT_US_2023_03_01:8933000 xref: UMLS_CUI:C0010324 is_a: DOID:2741 ! bilirubin metabolic disorder property_value: exactMatch "MESH:D003414" xsd:string [Term] id: DOID:3805 name: porokeratosis alt_id: DOID:8668 comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "disseminated superficial actinic porokeratosis" EXACT [] xref: GARD:10983 xref: ICD10CM:L56.5 xref: ICD9CM:692.75 xref: MESH:D017499 xref: MIM:175800 xref: NCI:C85019 xref: SNOMEDCT_US_2023_03_01:201086003 xref: SNOMEDCT_US_2023_03_01:238630009 xref: UMLS_CUI:C0162839 xref: UMLS_CUI:C0265970 is_a: DOID:161 ! keratosis [Term] id: DOID:3809 name: epidural spinal canal meningioma subset: NCIthesaurus xref: NCI:C5310 xref: UMLS_CUI:C1333417 is_a: DOID:1140 ! spinal canal and spinal cord meningioma [Term] id: DOID:381 name: arthropathy alt_id: DOID:13871 alt_id: DOID:13960 alt_id: DOID:1843 alt_id: DOID:1903 alt_id: DOID:226 alt_id: DOID:2317 alt_id: DOID:2318 alt_id: DOID:546 alt_id: DOID:9489 def: "A bone disease that is located_in the joint." [url:http\://en.wikipedia.org/wiki/Arthropathy] {comment="ls:IEDB"} subset: NCIthesaurus synonym: "ankylosis of ankle and foot joint" EXACT [] synonym: "ankylosis of forearm joint" EXACT [] synonym: "ankylosis of hand joint" EXACT [] synonym: "Ankylosis of joint of ankle and/or foot" EXACT [] synonym: "Ankylosis of joint of forearm" EXACT [] synonym: "Ankylosis of joint of hand" EXACT [] synonym: "Ankylosis of joint of lower leg" EXACT [] synonym: "ankylosis of joint of multiple sites" EXACT [] synonym: "ankylosis of joint of pelvic region and thigh" EXACT [] synonym: "ankylosis of joint of shoulder region" EXACT [] synonym: "Ankylosis of joint of upper arm" EXACT [] synonym: "ankylosis of lower leg joint" EXACT [] synonym: "Ankylosis of multiple joints" EXACT [] synonym: "ankylosis of upper arm joint" EXACT [] synonym: "Infectious arthropathy" EXACT [] synonym: "Joint ankylosis of the ankle and foot" EXACT [] synonym: "Joint ankylosis of the ankle and/or foot" EXACT [] synonym: "Joint ankylosis of the forearm" EXACT [] synonym: "Joint ankylosis of the hand" EXACT [] synonym: "Joint ankylosis of the lower leg" EXACT [] synonym: "Joint ankylosis of the pelvic region and thigh" EXACT [] synonym: "Joint ankylosis of the shoulder region" EXACT [] synonym: "Joint ankylosis of the upper arm" EXACT [] xref: ICD10CM:M00-M02 xref: ICD10CM:M12.9 xref: ICD9CM:711 xref: ICD9CM:719.90 xref: MESH:D007592 xref: NCI:C35760 xref: NCI:C78402 xref: SNOMEDCT_US_2023_03_01:48548006 xref: SNOMEDCT_US_2023_03_01:8316001 xref: UMLS_CUI:C0022408 xref: UMLS_CUI:C0157749 is_a: DOID:0080001 ! bone disease [Term] id: DOID:3810 name: obsolete chondrogenic neoplasm synonym: "cartilage neoplasm" EXACT [] synonym: "Chondromatous neoplasm (morphologic abnormality)" EXACT [] synonym: "Chondromatous neoplasm NOS (morphologic abnormality)" EXACT [] synonym: "Chondromatous tumor" EXACT [] is_obsolete: true [Term] id: DOID:3812 name: obsolete mediastinum chondroma synonym: "Chondroma of mediastinum" EXACT [] is_obsolete: true [Term] id: DOID:3813 name: central nervous system chondroma subset: NCIthesaurus synonym: "Chondroma of the CNS" EXACT [] xref: NCI:C7001 xref: UMLS_CUI:C1333019 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:2602 ! chondroma [Term] id: DOID:3814 name: soft tissue chondroma def: "A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." [url:https\://radiopaedia.org/articles/soft-tissue-chondroma] subset: NCIthesaurus synonym: "extraskeletal chondroma" EXACT [] xref: NCI:C9482 is_a: DOID:0060123 ! connective tissue benign neoplasm [Term] id: DOID:3816 name: glossopharyngeal nerve paralysis subset: NCIthesaurus xref: NCI:C27335 xref: SNOMEDCT_US_2023_03_01:827050005 xref: UMLS_CUI:C5231192 is_a: DOID:3817 ! cranial nerve palsy [Term] id: DOID:3817 name: cranial nerve palsy def: "A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve." [url:https\://aapos.org/glossary/cranial-nerve-palsy] subset: NCIthesaurus synonym: "Cranial nerve Paralysis" EXACT [] xref: MESH:D003389 xref: NCI:C26941 xref: SNOMEDCT_US_2023_03_01:73013002 xref: UMLS_CUI:C0151311 is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:3818 name: photoallergic dermatitis def: "An allergic contact dermatitis that is characterized by a delayed-type hypersensitivity cutaneous reaction in response to a photoantigen applied to the skin in individuals previously sensitized to the same substance, and has_symptom erythematous papules, vesicles, or eczema." [url:https\://en.wikipedia.org/wiki/Photodermatitis, url:https\://www.ncbi.nlm.nih.gov/pubmed/19834430] synonym: "Photoallergic contact dermatitis" EXACT [] synonym: "Photoallergic eczema" EXACT [] xref: MESH:D017454 xref: SNOMEDCT_US_2023_03_01:111209006 xref: UMLS_CUI:C0162824 is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:3819 name: toxicodendron dermatitis def: "An allergic contact dermatitis that has_allergic_trigger members of the toxicodendron family, including urushiol producing poison ivy, poison oak, and poison sumac, has_symptom pruritic erythematous rash with papules, vesicles, and plaques, and has_material_basis_in a type IV hypersensitivity reaction." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16805148] synonym: "Contact dermatitis due to Genus Toxicodendron" EXACT [] synonym: "Rhus dermatitis" EXACT [] xref: MESH:D011040 xref: SNOMEDCT_US_2023_03_01:410049000 xref: UMLS_CUI:C0032342 is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:3820 name: obsolete primary Chlamydiaceae infectious disease subset: gram-negative_bacterial_infectious_disease synonym: "chlamydiaceae infection" EXACT [] is_obsolete: true [Term] id: DOID:3821 name: posterior cerebral artery infarction xref: MESH:D020762 xref: UMLS_CUI:C0752132 is_a: DOID:3526 ! cerebral infarction [Term] id: DOID:3825 name: Shwartzman phenomenon subset: DO_rare_slim synonym: "Shwartzman reaction" EXACT [] xref: GARD:7636 xref: MESH:D012790 xref: SNOMEDCT_US_2023_03_01:24453002 xref: UMLS_CUI:C0037018 is_a: DOID:865 ! vasculitis property_value: exactMatch "MESH:D012790" xsd:string [Term] id: DOID:3827 name: congenital diaphragmatic hernia def: "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." [url:http\://en.wikipedia.org/wiki/Congenital_diaphragmatic_hernia, url:http\://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Diaphragmatic Hernia" EXACT [] xref: GARD:1481 xref: ICD10CM:K44 xref: MESH:D006548 xref: MIM:142340 xref: MIM:222400 xref: MIM:610187 xref: NCI:C34687 xref: ORDO:2140 xref: SNOMEDCT_US_2023_03_01:155748004 xref: UMLS_CUI:C0019284 is_a: DOID:0080015 ! physical disorder is_a: DOID:10481 ! diaphragm disease property_value: exactMatch "ICD10CM:Q79.0" xsd:string [Term] id: DOID:3828 name: chromophobe adenoma subset: NCIthesaurus synonym: "Chromophobe adenoma of the Pituitary gland" EXACT [] xref: ICDO:8270/0 xref: MESH:D000238 xref: NCI:C2857 xref: SNOMEDCT_US_2023_03_01:37039006 xref: UMLS_CUI:C0001432 is_a: DOID:3829 ! pituitary adenoma [Term] id: DOID:3829 name: pituitary adenoma def: "A pituitary gland benign neoplasm that derives_from glandular epithelial cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24010395] subset: NCIthesaurus synonym: "adenoma of the Pituitary gland" EXACT [] xref: ICDO:8272/0 xref: MESH:D010911 xref: MIM:PS102200 xref: NCI:C3329 xref: SNOMEDCT_US_2023_03_01:154621002 xref: UMLS_CUI:C0032000 is_a: DOID:60009 ! pituitary gland benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:3836 name: obsolete posttransplantation lymphoproliferative disease is_obsolete: true [Term] id: DOID:3837 name: obsolete benign lymphoproliferative disease is_obsolete: true [Term] id: DOID:3838 name: obsolete skin lymphoproliferative disease synonym: "Lymphoproliferative disorder of skin" EXACT [] is_obsolete: true [Term] id: DOID:384 name: Wolff-Parkinson-White syndrome alt_id: DOID:10392 comment: OMIM mapping confirmed by DO. [LS].\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Anomalous A-V excitation" EXACT [] synonym: "anomalous atrioventricular excitation" EXACT [] synonym: "Wolff-Parkinson-White pattern" EXACT [] xref: GARD:7897 xref: ICD10CM:I45.6 xref: ICD9CM:426.7 xref: MESH:D014927 xref: MIM:194200 xref: NCI:C35132 xref: SNOMEDCT_US_2023_03_01:195057009 xref: SNOMEDCT_US_2023_03_01:74390002 xref: UMLS_CUI:C0043202 xref: UMLS_CUI:C0392470 is_a: DOID:10273 ! heart conduction disease [Term] id: DOID:3840 name: craniopharyngioma subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "neoplasm of Rathke's Pouch" EXACT [] xref: GARD:10486 xref: ICDO:9350/1 xref: MESH:D003397 xref: NCI:C2964 xref: SNOMEDCT_US_2023_03_01:189179009 xref: UMLS_CUI:C0010276 is_a: DOID:0060090 ! central nervous system benign neoplasm [Term] id: DOID:3842 name: skull base cancer subset: NCIthesaurus synonym: "tumors of Skull Base" EXACT [] xref: MESH:D019292 xref: NCI:C4676 xref: UMLS_CUI:C0376527 is_a: DOID:1863 ! skull cancer [Term] id: DOID:3843 name: diencephalic neoplasm alt_id: DOID:6097 subset: NCIthesaurus synonym: "malignant diencephalic neoplasm" EXACT [] synonym: "malignant Diencephalic tumor" EXACT [] synonym: "tumor of Diencephalon" EXACT [] xref: NCI:C5125 xref: NCI:C5126 xref: UMLS_CUI:C1333286 xref: UMLS_CUI:C1334576 is_a: DOID:1659 ! supratentorial cancer [Term] id: DOID:3844 name: obsolete pediatric craniopharyngioma synonym: "pediatric Rathke's Pouch tumor" EXACT [] is_obsolete: true [Term] id: DOID:3845 name: obsolete childhood intracranial neoplasm is_obsolete: true [Term] id: DOID:3846 name: adamantinous craniopharyngioma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Adamantinous Rathke's Pouch tumor" EXACT [] synonym: "craniopharyngioma, adamantinomatous" EXACT [] xref: ICDO:9351/1 xref: MESH:D003397 xref: NCI:C4726 xref: SNOMEDCT_US_2023_03_01:134216001 xref: UMLS_CUI:C0431129 is_a: DOID:3840 ! craniopharyngioma [Term] id: DOID:3847 name: papillary craniopharyngioma subset: DO_cancer_slim subset: NCIthesaurus synonym: "craniopharyngioma, papillary" EXACT [] synonym: "Papillary Rathke's Pouch tumor" EXACT [] xref: ICDO:9352/1 xref: MESH:D003397 xref: NCI:C4725 xref: SNOMEDCT_US_2023_03_01:134215002 xref: UMLS_CUI:C0431128 is_a: DOID:3840 ! craniopharyngioma [Term] id: DOID:3848 name: obsolete adult craniopharyngioma synonym: "adult Rathke's Pouch tumor" EXACT [] is_obsolete: true [Term] id: DOID:3849 name: obsolete adult intracranial neoplasm synonym: "adult intracranial tumor" EXACT [] is_obsolete: true [Term] id: DOID:3850 name: hemangiopericytic tumor subset: NCIthesaurus synonym: "Hemangiopericytic neoplasm" EXACT [] xref: NCI:C7076 xref: SNOMEDCT_US_2023_03_01:189867006 xref: UMLS_CUI:C0476144 is_a: DOID:3316 ! perivascular tumor [Term] id: DOID:3852 name: Peutz-Jeghers syndrome alt_id: DOID:4133 alt_id: DOID:4134 alt_id: DOID:6252 alt_id: DOID:6253 def: "An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/10499464/, url:https\://pubmed.ncbi.nlm.nih.gov/10874301/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Colonic hamartomatous polyp" EXACT [] synonym: "gastric Peutz-Jeghers polyp" EXACT [] synonym: "Peutz Jeghers colon polyp" EXACT [] synonym: "Peutz Jeghers polyp" EXACT [] synonym: "Peutz-Jeghers polyp of small Intestine" EXACT [] synonym: "peutz-jeghers small bowel hamartoma" EXACT [] xref: GARD:7378 xref: ICD10CM:Q85.89 xref: MESH:D010580 xref: MIM:175200 xref: NCI:C3324 xref: NCI:C4733 xref: NCI:C7755 xref: ORDO:2869 xref: SNOMEDCT_US_2023_03_01:157029009 xref: SNOMEDCT_US_2023_03_01:277161008 xref: SNOMEDCT_US_2023_03_01:53633000 xref: UMLS_CUI:C0031269 xref: UMLS_CUI:C0265323 xref: UMLS_CUI:C0456487 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:3855 name: seminal vesicle tumor subset: NCIthesaurus synonym: "Seminal Vesicle neoplasm" EXACT [] synonym: "seminal vesicle tumour" EXACT [] synonym: "tumor of seminal vesicle" EXACT [] synonym: "tumour of seminal vesicle" EXACT [] xref: NCI:C39908 xref: SNOMEDCT_US_2023_03_01:236740006 xref: UMLS_CUI:C0341767 is_a: DOID:0060087 ! male reproductive organ benign neoplasm [Term] id: DOID:3856 name: male reproductive organ cancer alt_id: DOID:10284 def: "A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum." [url:http\://en.wikipedia.org/wiki/Template\:Male_genital_neoplasia, url:http\://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm] subset: NCIthesaurus synonym: "male genital cancer" EXACT [] synonym: "male genital neoplasm" RELATED [] synonym: "male reproductive system neoplasm" EXACT [] synonym: "malignant neoplasm of male genital organ" EXACT [] synonym: "malignant neoplasm of male genital organ or tract" EXACT [] synonym: "malignant neoplasm of male genital organs" EXACT [] synonym: "malignant tumor of male genital organ" EXACT [] synonym: "malignant tumor of male Reproductive system" EXACT [] synonym: "neoplasm of male genital organ" EXACT [] synonym: "tumor of male Reproductive system" EXACT [] xref: ICD10CM:C63.9 xref: ICD9CM:187.9 xref: MESH:D005834 xref: NCI:C3054 xref: NCI:C8561 xref: SNOMEDCT_US_2023_03_01:126895004 xref: SNOMEDCT_US_2023_03_01:363515000 xref: UMLS_CUI:C0017417 xref: UMLS_CUI:C0153606 is_a: DOID:193 ! reproductive organ cancer is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:3857 name: large cell medulloblastoma def: "A medulloblastoma that is characterized by cells that are larger than would be normally expected." [url:http\://en.wikipedia.org/wiki/Large_cell] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Anaplastic medulloblastoma" EXACT [] xref: ICDO:9474/3 xref: NCI:C6904 xref: ORDO:251855 xref: SNOMEDCT_US_2023_03_01:128790006 xref: UMLS_CUI:C1266180 is_a: DOID:0050902 ! medulloblastoma [Term] id: DOID:3859 name: obsolete relapsed medulloblastoma is_obsolete: true [Term] id: DOID:386 name: obsolete postpericardiotomy syndrome synonym: "Postcardiotomy syndrome" RELATED [] is_obsolete: true [Term] id: DOID:3860 name: cerebellar vermis medulloblastoma subset: NCIthesaurus synonym: "Vermis Medulloblastoma" EXACT [] xref: NCI:C5401 xref: UMLS_CUI:C1332903 is_a: DOID:0050902 ! medulloblastoma is_a: DOID:0060104 ! cerebellar medulloblastoma [Term] id: DOID:3861 name: medullomyoblastoma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9472/3 xref: MESH:D008527 xref: NCI:C3706 xref: SNOMEDCT_US_2023_03_01:24604009 xref: UMLS_CUI:C0205833 is_a: DOID:0050902 ! medulloblastoma [Term] id: DOID:3862 name: obsolete FAP associated medulloblastoma is_obsolete: true [Term] id: DOID:3863 name: obsolete region 17p13 allelic loss associated medulloblastoma is_obsolete: true [Term] id: DOID:3864 name: adult medulloblastoma alt_id: DOID:6380 subset: NCIthesaurus synonym: "adult brain medulloblastoma" EXACT [] xref: MESH:D008527 xref: NCI:C4011 xref: UMLS_CUI:C0278876 is_a: DOID:0050902 ! medulloblastoma [Term] id: DOID:3865 name: adult central nervous system embryonal tumor def: "A central nervous system embryonal tumor that occurs in adults." [url:https\://pubmed.ncbi.nlm.nih.gov/33477185/] subset: NCIthesaurus synonym: "adult central nervous system primitive neuroectodermal neoplasm" EXACT [] synonym: "adult CNS PNET" EXACT [] xref: NCI:C5411 xref: UMLS_CUI:C1332196 is_a: DOID:0060103 ! central nervous system embryonal tumor [Term] id: DOID:3866 name: obsolete desmoplastic medulloblastoma alt_id: DOID:6926 comment: OMIM mapping confirmed by DO. [SN]. synonym: "desmoplastic medulloblastoma (morphologic abnormality)" EXACT [] synonym: "desmoplastic nodular medulloblastoma" EXACT [] is_obsolete: true [Term] id: DOID:3867 name: obsolete nevoid basal cell carcinoma syndrome associated medulloblastoma is_obsolete: true [Term] id: DOID:3868 name: melanotic medulloblastoma subset: NCIthesaurus synonym: "Medulloblastoma, melanotic" EXACT [] xref: MESH:D008527 xref: NCI:C9497 xref: SNOMEDCT_US_2023_03_01:83217000 xref: UMLS_CUI:C1275668 is_a: DOID:0050902 ! medulloblastoma [Term] id: DOID:3869 name: childhood medulloblastoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric Medulloblastoma" EXACT [] xref: MESH:D008527 xref: NCI:C3997 xref: UMLS_CUI:C0278510 is_a: DOID:0050902 ! medulloblastoma [Term] id: DOID:3870 name: childhood central nervous system embryonal tumor def: "A central nervous system embryonal tumor that occurs in childhood." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315657/] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood central nervous system primitive neuroectodermal neoplasm" EXACT [] synonym: "pediatric CNS PNET" EXACT [] xref: NCI:C5961 xref: UMLS_CUI:C1332957 is_a: DOID:0060103 ! central nervous system embryonal tumor [Term] id: DOID:3871 name: obsolete medulloblastoma with leptomeningeal spread is_obsolete: true [Term] id: DOID:3872 name: obsolete leptomeningeal metastases synonym: "malignant meningitis (disorder)" EXACT [] synonym: "Meningeal carcinomatosis" EXACT [] synonym: "metastatic tumor to the Leptomeninges" EXACT [] is_obsolete: true [Term] id: DOID:3873 name: desmoplastic/nodular medulloblastoma def: "A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network." [url:https\://pubmed.ncbi.nlm.nih.gov/32304218/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910646/] comment: According to WHO ICDO Medulloblastoma with extensive nodularity is the same as desmoplastic nodular medulloblastoma. subset: DO_cancer_slim subset: NCIthesaurus synonym: "desmoplastic nodular medulloblastoma" EXACT [] synonym: "Medulloblastoma with extensive nodularity" EXACT [] synonym: "nodular medulloblastoma" EXACT [] xref: ICDO:9471/3 xref: NCI:C5407 xref: SNOMEDCT_US_2023_03_01:733902001 xref: UMLS_CUI:C1334970 is_a: DOID:0050902 ! medulloblastoma [Term] id: DOID:3875 name: thrombophlebitis alt_id: DOID:1146 def: "A phlebitis that results from a blood clot in the vessel." [url:http\://en.wikipedia.org/wiki/Thrombophlebitis, url:http\://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/thrombophlebitis.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001108.htm] subset: NCIthesaurus synonym: "Phlebitis and thrombophlebitis of superficial vessels of lower extremities" EXACT [] synonym: "Superficial thrombophlebitis of leg" EXACT [] synonym: "Thrombophlebitis of a superficial leg vein" EXACT [] synonym: "Thrombophlebitis of superficial veins of lower extremity" EXACT [] xref: ICD10CM:I80.0 xref: ICD9CM:451.0 xref: MESH:D013924 xref: NCI:C3410 xref: SNOMEDCT_US_2023_03_01:40283005 xref: SNOMEDCT_US_2023_03_01:64156001 xref: UMLS_CUI:C0040046 xref: UMLS_CUI:C0265057 is_a: DOID:864 ! phlebitis [Term] id: DOID:3876 name: colonic pseudo-obstruction synonym: "primary chronic pseudo-obstruction of colon" EXACT [] xref: MESH:D003112 xref: SNOMEDCT_US_2023_03_01:35065006 xref: UMLS_CUI:C0009377 is_a: DOID:3877 ! functional colonic disease [Term] id: DOID:3877 name: functional colonic disease xref: MESH:D003109 xref: UMLS_CUI:C0009374 is_a: DOID:5353 ! colonic disease [Term] id: DOID:3878 name: obsolete intestinal pseudo-obstruction is_obsolete: true [Term] id: DOID:3881 name: obsolete Proteus infectious disease subset: gram-negative_bacterial_infectious_disease synonym: "Proteus infection" EXACT [] synonym: "Proteus infection (disorder)" EXACT [] synonym: "Proteus infection NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:3883 name: Lynch syndrome alt_id: DOID:0050586 alt_id: DOID:3040 def: "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers." [url:http\://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer, url:http\://ghr.nlm.nih.gov/condition/lynch-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Hereditary Defective Mismatch Repair syndrome" EXACT [] synonym: "Hereditary non-polyposis colon cancer" EXACT [] synonym: "Hereditary non-polyposis colon cancer syndrome" EXACT [] synonym: "Hereditary non-polyposis colorectal cancer" EXACT [] synonym: "Hereditary non-polyposis colorectal cancer syndrome" EXACT [] synonym: "Hereditary nonpolyposis colon cancer" EXACT [] synonym: "Hereditary nonpolyposis colon cancer syndrome" EXACT [] synonym: "hereditary nonpolyposis colorectal cancer" EXACT [] synonym: "Hereditary nonpolyposis colorectal cancer syndrome" EXACT [] synonym: "hereditary nonpolyposis colorectal neoplasm" EXACT [] synonym: "HNPCC" EXACT OMO:0003012 [] xref: GARD:9905 xref: MESH:D003123 xref: MIM:PS120435 xref: NCI:C8494 xref: ORDO:144 xref: SNOMEDCT_US_2023_03_01:700064004 xref: UMLS_CUI:C0009405 xref: UMLS_CUI:C4552100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome property_value: broadMatch "NCI:C120083" xsd:string property_value: broadMatch "ORDO:443909" xsd:string property_value: broadMatch "UMLS_CUI:C1333990" xsd:string property_value: exactMatch "GARD:9905" xsd:string property_value: exactMatch "MESH:D003123" xsd:string property_value: exactMatch "MIM:PS120435" xsd:string property_value: exactMatch "NCI:C8494" xsd:string property_value: exactMatch "ORDO:144" xsd:string property_value: exactMatch "UMLS_CUI:C0009405" xsd:string [Term] id: DOID:3890 name: acute intermittent porphyria subset: DO_rare_slim subset: NCIthesaurus synonym: "AIP - acute intermittent porphyria" EXACT [] synonym: "porphyria intermittent acute" EXACT [] synonym: "Pyrroloporphyria" EXACT [] xref: GARD:5732 xref: MESH:D017118 xref: MIM:176000 xref: NCI:C84536 xref: SNOMEDCT_US_2023_03_01:190914003 xref: UMLS_CUI:C0162565 is_a: DOID:3133 ! acute porphyria [Term] id: DOID:3891 name: placental insufficiency def: "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy." [url:http\://en.wikipedia.org/wiki/Placental_insufficiency] xref: MESH:D010927 xref: SNOMEDCT_US_2023_03_01:156185006 xref: UMLS_CUI:C0032051 is_a: DOID:780 ! placenta disease [Term] id: DOID:3892 name: insulinoma alt_id: DOID:3903 def: "A pancreatic cystadenoma that is characterized by the overproduction of insulin." [url:https\://en.wikipedia.org/wiki/Insulinoma] subset: DO_rare_slim subset: NCIthesaurus synonym: "Insulin-Producing tumor of Islet cells" EXACT [] synonym: "Islet cell adenoma" EXACT [] xref: GARD:3010 xref: ICDO:8151/3 xref: MESH:D007340 xref: MESH:D007516 xref: NCI:C65184 xref: NCI:C95598 xref: SNOMEDCT_US_2023_03_01:189586007 xref: SNOMEDCT_US_2023_03_01:25324008 xref: UMLS_CUI:C0021670 xref: UMLS_CUI:C0022134 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:3918 ! pancreatic cystadenoma [Term] id: DOID:3893 name: hidrocystoma subset: NCIthesaurus synonym: "apocrine cystadenoma" EXACT [] synonym: "Eccrine Cystadenoma" EXACT [] synonym: "Eccrine hidrocystoma of skin" EXACT [] xref: ICDO:8404/0 xref: MESH:D018251 xref: NCI:C3760 xref: SNOMEDCT_US_2023_03_01:80549000 xref: UMLS_CUI:C0206672 is_a: DOID:5876 ! apocrine sweat gland neoplasm property_value: exactMatch "MESH:D018251" xsd:string [Term] id: DOID:3895 name: apocrine adenoma subset: NCIthesaurus synonym: "tubular Apocrine adenoma" EXACT [] xref: ICDO:8401/0 xref: NCI:C4168 xref: SNOMEDCT_US_2023_03_01:307596009 xref: UMLS_CUI:C0334345 is_a: DOID:5876 ! apocrine sweat gland neoplasm [Term] id: DOID:3896 name: hidradenoma def: "A sweat gland benign neoplasm that is located_in an apical sweat gland." [url:https\://en.wikipedia.org/wiki/Hidradenoma] subset: NCIthesaurus synonym: "Hidradenoma of skin" EXACT [] synonym: "Sweat gland adenoma" EXACT [] synonym: "Syringoadenoma" EXACT [] xref: ICDO:8402/0 xref: MESH:D006607 xref: NCI:C7560 xref: SNOMEDCT_US_2023_03_01:81393009 xref: UMLS_CUI:C0019522 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:2664 ! sweat gland benign neoplasm [Term] id: DOID:3898 name: obsolete skin appendage adenoma synonym: "adenoma of skin appendage" RELATED [] synonym: "Adnexal adenoma" EXACT [] synonym: "skin appendage adenoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:3899 name: obsolete skin appendage neoplasm synonym: "Adnexal and skin appendage neoplasm (morphologic abnormality)" EXACT [] synonym: "Adnexal and skin appendage neoplasm NOS (morphologic abnormality)" EXACT [] synonym: "Adnexal and skin appendage tumor (qualifier value)" EXACT [] is_obsolete: true [Term] id: DOID:390 name: obsolete venous problem alt_id: DOID:11956 alt_id: DOID:11957 alt_id: DOID:13384 alt_id: DOID:13385 synonym: "Antenatal deep vein thrombosis" EXACT [] synonym: "Antenatal deep vein thrombosis NOS (disorder)" EXACT [] synonym: "Antenatal deep vein thrombosis unspecified (disorder)" EXACT [] synonym: "Antepartum deep phlebothrombosis (disorder)" EXACT [] synonym: "antepartum deep-vein thrombosis" EXACT [] synonym: "Deep phlebothrombosis, antepartum" EXACT [] synonym: "Deep phlebothrombosis, antepartum, unspecified as to episode of care" EXACT [] synonym: "Deep phlebothrombosis, antepartum, with delivery" EXACT [] synonym: "Deep phlebothrombosis, postpartum, with delivery" EXACT [] synonym: "postpartum deep-vein thrombosis" EXACT [] is_obsolete: true [Term] id: DOID:3901 name: vulvitis def: "A vulvar disease that is characterized by inflammation of the vulva." [url:https\://en.wikipedia.org/wiki/Vulvitis] xref: ICD10CM:N76.2 xref: MESH:D014847 xref: SNOMEDCT_US_2023_03_01:63144007 xref: UMLS_CUI:C0042996 is_a: DOID:2059 ! vulvar disease [Term] id: DOID:3902 name: obsolete pseudorabies def: "A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle." [url:http\://en.wikipedia.org/wiki/Pseudorabies, url:http\://www.plospathogens.org/article/info\:doi%2F10.1371%2Fjournal.ppat.1000640] synonym: "Aujeszky's disease" EXACT [] synonym: "mad itch" EXACT [] is_obsolete: true [Term] id: DOID:3904 name: bronchus carcinoma def: "A bronchus cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "BC - Bronchogenic carcinoma" EXACT [] xref: MESH:D002283 xref: NCI:C35875 xref: SNOMEDCT_US_2023_03_01:254622008 xref: UMLS_CUI:C0007121 is_a: DOID:1325 ! bronchus cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:3905 name: lung carcinoma def: "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis." [url:https\://merck.com/mmpe/sec05/ch062/ch062b.html] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: NCIthesaurus synonym: "cancer of lung" EXACT [] synonym: "carcinoma of lung" RELATED [] xref: EFO:0001071 xref: NCI:C4878 xref: SNOMEDCT_US_2023_03_01:154485001 xref: UMLS_CUI:C0684249 is_a: DOID:1324 ! lung cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:3906 name: bronchial benign neoplasm synonym: "bronchus neoplasm" EXACT [] synonym: "neoplasm of bronchus" EXACT [] xref: MESH:D001984 xref: SNOMEDCT_US_2023_03_01:126705004 xref: UMLS_CUI:C0006264 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:1176 ! bronchial disease [Term] id: DOID:3907 name: lung squamous cell carcinoma def: "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." [url:http\://cancergenome.nih.gov/cancersselected/lungsquamouscell, url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma, url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma_of_the_lung, url:http\://www.cancer.gov/dictionary?CdrID=46595] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Epidermoid cell carcinoma of the lung" EXACT [] synonym: "squamous cell carcinoma of lung" RELATED [] xref: NCI:C3493 xref: SNOMEDCT_US_2023_03_01:254634000 xref: UMLS_CUI:C0149782 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:3908 ! lung non-small cell carcinoma [Term] id: DOID:3908 name: lung non-small cell carcinoma def: "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma." [url:http\://en.wikipedia.org/wiki/Non-small-cell_lung_carcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Non-small cell lung cancer" EXACT [] synonym: "non-small cell lung carcinoma" EXACT [] synonym: "NSCLC" EXACT OMO:0003012 [] xref: EFO:0003060 xref: KEGG:05223 xref: MESH:D002289 xref: NCI:C2926 xref: SNOMEDCT_US_2023_03_01:254637007 xref: UMLS_CUI:C0007131 is_a: DOID:3905 ! lung carcinoma [Term] id: DOID:3909 name: obsolete bronchogenic lung adenocarcinoma synonym: "Bronchiogenic adenocarcinoma" EXACT [] is_obsolete: true [Term] id: DOID:3910 name: lung adenocarcinoma alt_id: DOID:3909 alt_id: DOID:4826 def: "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin." [url:http\://cancergenome.nih.gov/cancersselected/lungadenocarcinoma, url:http\://en.wikipedia.org/wiki/Adenocarcinoma, url:http\://en.wikipedia.org/wiki/Adenocarcinoma_of_the_lung] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "adenocarcinoma of lung" RELATED [] synonym: "bronchogenic lung adenocarcinoma" EXACT [] synonym: "nonsmall cell adenocarcinoma" EXACT [] xref: EFO:0000571 xref: GARD:5742 xref: MESH:D000077192 xref: NCI:C27745 xref: NCI:C3512 xref: SNOMEDCT_US_2023_03_01:254626006 xref: UMLS_CUI:C0152013 xref: UMLS_CUI:C1335060 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3908 ! lung non-small cell carcinoma [Term] id: DOID:3911 name: progeria def: "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." [url:https\://www.genome.gov/Genetic-Disorders/Progeria, url:https\://www.ncbi.nlm.nih.gov/pubmed/12714972, url:https\://www.ncbi.nlm.nih.gov/pubmed/16838330] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "HGPS" EXACT OMO:0003012 [] synonym: "Hutchinson Gilford syndrome" EXACT [] synonym: "Hutchinson-Gilford disease" EXACT [] synonym: "Hutchinson-Gilford Progeria syndrome" EXACT [] xref: GARD:7467 xref: ICD10CM:E34.8 xref: MEDDRA:10036794 xref: MESH:D011371 xref: MIM:176670 xref: NCI:C34951 xref: ORDO:740 xref: SNOMEDCT_US_2023_03_01:190590004 xref: UMLS_CUI:C0033300 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081332 ! progeroid syndrome [Term] id: DOID:3914 name: obsolete serous cystadenoma of ovary synonym: "Ovarian serous Cystadenoma" EXACT [] is_obsolete: true [Term] id: DOID:3916 name: obsolete borderline malignancy serous cystadenoma synonym: "Atypical proliferating serous tumour" EXACT [] synonym: "Low Malignancy Potential serous Cystadenoma" EXACT [] is_obsolete: true [Term] id: DOID:3917 name: pancreatic serous cystadenoma subset: NCIthesaurus xref: NCI:C5712 xref: SNOMEDCT_US_2023_03_01:690761000119100 xref: UMLS_CUI:C1335316 is_a: DOID:3918 ! pancreatic cystadenoma [Term] id: DOID:3918 name: pancreatic cystadenoma subset: NCIthesaurus xref: NCI:C4374 xref: SNOMEDCT_US_2023_03_01:235967003 xref: UMLS_CUI:C0341486 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:26 ! pancreas disease [Term] id: DOID:3919 name: pancreatic serous cystic neoplasm subset: NCIthesaurus xref: NCI:C41248 xref: UMLS_CUI:C1518875 is_a: DOID:1795 ! malignant exocrine pancreas neoplasm [Term] id: DOID:3923 name: diffuse lipomatosis subset: NCIthesaurus xref: NCI:C6504 xref: UMLS_CUI:C1333298 is_a: DOID:3153 ! lipomatosis [Term] id: DOID:3924 name: main bronchus cancer synonym: "Ca main bronchus" EXACT [] synonym: "malignant neoplasm of main bronchus" EXACT [] xref: ICD10CM:C34.0 xref: ICD9CM:162.2 xref: SNOMEDCT_US_2023_03_01:187856002 xref: UMLS_CUI:C0153490 is_a: DOID:1324 ! lung cancer [Term] id: DOID:3925 name: steroid lipomatosis subset: NCIthesaurus xref: NCI:C27487 xref: UMLS_CUI:C1336506 is_a: DOID:3153 ! lipomatosis [Term] id: DOID:3926 name: mediastinal lipomatosis subset: NCIthesaurus xref: NCI:C27488 xref: UMLS_CUI:C1334662 is_a: DOID:3153 ! lipomatosis [Term] id: DOID:3927 name: pelvic lipomatosis subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7350 xref: MESH:C535549 xref: NCI:C27486 xref: SNOMEDCT_US_2023_03_01:190802005 xref: UMLS_CUI:C0406608 is_a: DOID:3153 ! lipomatosis [Term] id: DOID:3928 name: adiposis dolorosa comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Dercum disease" EXACT [] xref: GARD:5750 xref: ICD10CM:E88.2 xref: MESH:D000274 xref: MIM:103200 xref: NCI:C84540 xref: SNOMEDCT_US_2023_03_01:71404003 xref: UMLS_CUI:C0001529 is_a: DOID:3153 ! lipomatosis property_value: exactMatch "MESH:D000274" xsd:string [Term] id: DOID:3930 name: otitis interna def: "An inner ear disease which involves inflammation of the inner ear." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otitis%20interna] synonym: "inner ear infection" EXACT [] xref: UMLS_CUI:C1168225 is_a: DOID:2952 ! inner ear disease [Term] id: DOID:3933 name: anterior compartment syndrome xref: ICD10CM:M76.81 xref: MESH:D000868 xref: UMLS_CUI:C0003152 is_a: DOID:682 ! compartment syndrome [Term] id: DOID:3939 name: obsolete lipomatous cancer comment: NCI retired concept, merged with liposarcoma[LS] synonym: "malignant lipomatous tumor" EXACT [] synonym: "malignant tumor of Adipose tissue" EXACT [] xref: NCI:C4501 xref: SNOMEDCT_US_2020_03_01:254828009 xref: UMLS_CUI:C0346117 is_obsolete: true [Term] id: DOID:3944 name: Arenaviridae infectious disease def: "A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses." [url:http\://en.wikipedia.org/wiki/Arenaviridae] subset: DO_infectious_disease_slim is_a: DOID:934 ! viral infectious disease [Term] id: DOID:3946 name: pituitary-dependent Cushing's disease subset: NCIthesaurus synonym: "Overproduction of ACTH" EXACT [] synonym: "pituitary-dependent Cushing disease" EXACT [] xref: ICD10CM:E24.0 xref: MESH:D047748 xref: NCI:C113210 xref: SNOMEDCT_US_2023_03_01:190502001 xref: UMLS_CUI:C0221406 is_a: DOID:2444 ! hyperpituitarism [Term] id: DOID:3947 name: adrenal gland hyperfunction subset: NCIthesaurus synonym: "Adrenocortical hyperfunction" EXACT [] synonym: "hyperadrenalism" EXACT [] synonym: "hypercortisolism" EXACT [] xref: MESH:D000308 xref: NCI:C113208 xref: SNOMEDCT_US_2023_03_01:47270006 xref: UMLS_CUI:C0001622 is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:3948 name: adrenocortical carcinoma def: "An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://cancergenome.nih.gov/cancersselected/AdrenocorticalCarcinoma, url:http\://www.cancer.gov/cancertopics/types/adrenocortical] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Adrenal cortical carcinoma" EXACT [] synonym: "carcinoma of the Adrenal cortex" EXACT [] xref: GARD:558 xref: MESH:D018268 xref: MIM:202300 xref: NCI:C9325 xref: SNOMEDCT_US_2023_03_01:255035007 xref: UMLS_CUI:C0206686 is_a: DOID:305 ! carcinoma is_a: DOID:660 ! adrenal cortex cancer property_value: exactMatch "MESH:D018268" xsd:string [Term] id: DOID:3950 name: adrenal carcinoma def: "An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Adrenocortical_carcinoma] subset: DO_cancer_slim synonym: "carcinoma of the Adrenal gland" EXACT [] is_a: DOID:305 ! carcinoma is_a: DOID:3953 ! adrenal gland cancer [Term] id: DOID:3951 name: acute myocarditis subset: NCIthesaurus xref: ICD10CM:I40 xref: ICD9CM:422 xref: NCI:C35206 xref: SNOMEDCT_US_2023_03_01:155336004 xref: UMLS_CUI:C0155686 is_a: DOID:820 ! myocarditis [Term] id: DOID:3952 name: adrenal cortex disease def: "An adrenal gland disease that is located_in the adrenal cortex." [url:https\://accessmedicine.mhmedical.com/content.aspx?bookid=961§ionid=53555702] xref: MESH:D000303 xref: SNOMEDCT_US_2023_03_01:129636003 xref: UMLS_CUI:C0001614 is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:3953 name: adrenal gland cancer alt_id: DOID:11007 def: "An endocrine gland cancer located_in the adrenal glands which are located above the kidneys." [url:http\://en.wikipedia.org/wiki/Adrenal_gland] subset: DO_CFDE_slim subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "adrenal cancer" EXACT [] synonym: "adrenal neoplasm" EXACT [] synonym: "malignant Adrenal tumor" EXACT [] synonym: "malignant neoplasm of adrenal gland" EXACT [] synonym: "neoplasm of adrenal gland" EXACT [] synonym: "tumor of the Adrenal gland" EXACT [] xref: GARD:5751 xref: ICD10CM:C74 xref: ICD9CM:194.0 xref: MESH:D000310 xref: NCI:C2859 xref: NCI:C9338 xref: SNOMEDCT_US_2023_03_01:127021009 xref: SNOMEDCT_US_2023_03_01:93665005 xref: UMLS_CUI:C0001624 xref: UMLS_CUI:C0750887 is_a: DOID:170 ! endocrine gland cancer is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:3959 name: adrenal cortical adenocarcinoma def: "An adrenocortical carcinoma that originates in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adrenocortical_carcinoma] synonym: "Adrenal cortex adenocarcinoma" EXACT [] is_a: DOID:299 ! adenocarcinoma is_a: DOID:3948 ! adrenocortical carcinoma [Term] id: DOID:396 name: Loeffler endocarditis def: "A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils." [url:http\://en.wikipedia.org/wiki/L%C3%B6ffler%27s_endocarditis] subset: NCIthesaurus synonym: "Eosinophilic Endomyocardial disease" EXACT [] xref: ICD10CM:I42.3 xref: NCI:C27044 xref: SNOMEDCT_US_2023_03_01:33258008 xref: UMLS_CUI:C0264834 is_a: DOID:397 ! restrictive cardiomyopathy [Term] id: DOID:3962 name: follicular thyroid carcinoma def: "A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells." [url:http\://en.wikipedia.org/wiki/Follicular_thyroid_cancer] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: NCIthesaurus synonym: "Follicular adenocarcinoma" EXACT [] synonym: "Follicular adenocarcinoma, well differentiated" EXACT [] synonym: "Follicular carcinoma" EXACT [] synonym: "Thyroid adenocarcinoma" EXACT [] synonym: "thyroid gland follicular carcinoma" EXACT [] xref: ICD11:2D10.0 xref: ICDO:8330/3 xref: MESH:D018263 xref: MIM:188470 xref: NCI:C8054 xref: SNOMEDCT_US_2023_03_01:255028004 xref: UMLS_CUI:C0206682 is_a: DOID:0080525 ! differentiated high-grade thyroid carcinoma [Term] id: DOID:3963 name: thyroid gland carcinoma def: "A thyroid gland cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "head and neck cancer, Thyroid" EXACT [] synonym: "Thyroid carcinoma" EXACT [] xref: EFO:0002892 xref: MESH:D013964 xref: NCI:C4815 xref: UMLS_CUI:C0549473 is_a: DOID:1781 ! thyroid cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:3964 name: trabecular follicular adenocarcinoma subset: NCIthesaurus synonym: "Follicular adenocarcinoma, trabecular" EXACT [] synonym: "Trabecular Follicular carcinoma" EXACT [] xref: NCI:C46095 xref: SNOMEDCT_US_2023_03_01:72174007 xref: UMLS_CUI:C0334327 is_a: DOID:3962 ! follicular thyroid carcinoma [Term] id: DOID:3965 name: Merkel cell carcinoma subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Trabecular adenocarcinoma" EXACT [] synonym: "trabecular carcinoma" EXACT [] xref: GARD:9266 xref: ICDO:8247/3 xref: NCI:C4068 xref: SNOMEDCT_US_2023_03_01:29792007 xref: UMLS_CUI:C0302182 is_a: DOID:3451 ! skin carcinoma [Term] id: DOID:3968 name: obsolete papillary follicular thyroid adenocarcinoma comment: Obsolete concept in NCI, reviewed June 2024 [LS] xref: MESH:D018265 xref: NCI:C7380 xref: SNOMEDCT_US_2023_03_01:189643000 xref: UMLS_CUI:C0206683 is_obsolete: true [Term] id: DOID:3969 name: papillary thyroid carcinoma def: "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland." [url:http\://cancergenome.nih.gov/cancersselected/thyroid, url:http\://en.wikipedia.org/wiki/Papillary_thyroid_cancer, url:https\://www.ncbi.nlm.nih.gov/pubmed/21455196] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Papillary carcinoma of the Thyroid gland" EXACT [] synonym: "Papillary carcinoma of thyroid" EXACT [] synonym: "thyroid gland papillary carcinoma" EXACT [] xref: GARD:12027 xref: ICD11:2D10.1 xref: ICDO:8260/3 xref: MESH:D000077273 xref: MIM:188550 xref: NCI:C4035 xref: SNOMEDCT_US_2023_03_01:255029007 xref: UMLS_CUI:C0238463 is_a: DOID:0080525 ! differentiated high-grade thyroid carcinoma is_a: DOID:3112 ! papillary adenocarcinoma [Term] id: DOID:397 name: restrictive cardiomyopathy def: "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8995091] comment: Xref MGI.\nOMIM mappings 115210, 612422 added from NeuroDevNet [WAK]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Cardiomyopathy, constrictive" EXACT [] synonym: "Familial restrictive cardiomyopathy" RELATED [MIM:115210] synonym: "primary restrictive cardiomyopathy" EXACT [] xref: ICD10CM:I42.5 xref: MESH:D002313 xref: MIM:115210 xref: MIM:PS115210 xref: NCI:C62798 xref: ORDO:75249 xref: SNOMEDCT_US_2023_03_01:389996009 xref: UMLS_CUI:C0007196 is_a: DOID:0060036 ! intrinsic cardiomyopathy [Term] id: DOID:3973 name: medullary thyroid carcinoma def: "A thyroid gland carcinoma that has_material_basis_in parafollicular cells." [url:http\://en.wikipedia.org/wiki/Medullary_thyroid_cancer, url:https\://www.ncbi.nlm.nih.gov/books/NBK459354/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Medullary carcinoma of the Thyroid gland" EXACT [] synonym: "Parafollicular cell carcinoma" EXACT [] synonym: "thyroid gland medullary carcinoma" EXACT [] synonym: "Ultimobranchial thyroid tumor" EXACT [] synonym: "Ultimobranchial thyroid tumour" EXACT [] xref: ICDO:8345/3 xref: MESH:C536914 xref: NCI:C3879 xref: SNOMEDCT_US_2023_03_01:255032005 xref: UMLS_CUI:C0238462 is_a: DOID:3963 ! thyroid gland carcinoma [Term] id: DOID:3974 name: obsolete medullary carcinoma synonym: "Medullary carcinoma" EXACT [] synonym: "Medullary carcinoma (morphologic abnormality)" EXACT [] synonym: "Medullary carcinoma NOS (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:3978 name: extrinsic cardiomyopathy def: "A cardiomyopathy that is characterized by the pathology occurring outside of the myocardium." [url:http\://en.wikipedia.org/wiki/Cardiomyopathy] xref: ICD9CM:425.8 xref: SNOMEDCT_US_2023_03_01:195580005 xref: UMLS_CUI:C0155699 is_a: DOID:0050700 ! cardiomyopathy [Term] id: DOID:398 name: obsolete cutaneous tuberculosis alt_id: DOID:1031 subset: gram-positive_bacterial_infectious_disease synonym: "Tuberculosis cutis" EXACT [] synonym: "Tuberculosis of skin (disorder)" EXACT [] synonym: "tuberculosis of skin and subcutaneous cellular tissue" EXACT [] synonym: "Tuberculosis of skin and subcutaneous cellular tissue, unspecified examination" EXACT [] is_obsolete: true [Term] id: DOID:3981 name: pantothenate kinase-associated neurodegeneration def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13." [url:http\://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "brain Iron Accumulation type I syndrome" EXACT [] synonym: "Hallervorden-Spatz disease" EXACT [] synonym: "Hallervorden-Spatz syndrome" EXACT [] synonym: "NBIA1" EXACT OMO:0003012 [] synonym: "neurodegeneration with brain iron accumulation 1" EXACT [] synonym: "Pigmentary pallidal degeneration" EXACT [] xref: GARD:6564 xref: ICD10CM:G23.0 xref: MESH:D006211 xref: MIM:234200 xref: NCI:C8967 xref: ORDO:157850 xref: SNOMEDCT_US_2023_03_01:2992000 xref: UMLS_CUI:C0018523 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:3982 name: Meige syndrome def: "A cranio-facial dystonia that is accompanied by blepharospasm." [url:https\://www.ncbi.nlm.nih.gov/books/NBK513358/] subset: DO_rare_slim xref: GARD:7008 xref: MESH:D008538 xref: SNOMEDCT_US_2023_03_01:230325003 xref: UMLS_CUI:C0025183 is_a: DOID:0050845 ! cranio-facial dystonia [Term] id: DOID:3983 name: oesophagostomiasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Oesophagostomiasis.htm] subset: DO_infectious_disease_slim synonym: "Infection by Oesophagostomum" EXACT [] xref: MESH:D009814 xref: SNOMEDCT_US_2023_03_01:22500005 xref: UMLS_CUI:C0028887 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:3984 name: obsolete Strongylus equinus infectious disease def: "A parasitic helminthiasis infectious disease that involves infection of the intestine in horses by the nematode Strongylus equinus." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1236195/pdf/compmed00004-0024.pdf] synonym: "equine strongyle infectious disease" EXACT [] synonym: "Infection by Strongylus equinus (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:3985 name: ostertagiasis def: "A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia." [url:http\://jvdi.org/cgi/reprint/1/2/195.pdf] subset: DO_infectious_disease_slim xref: MESH:D010029 xref: UMLS_CUI:C0029471 is_a: DOID:1255 ! trichostrongyloidiasis [Term] id: DOID:399 name: tuberculosis alt_id: DOID:10096 alt_id: DOID:12688 alt_id: DOID:12691 alt_id: DOID:415 alt_id: DOID:9901 alt_id: DOID:9902 def: "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes." [url:https\://www.merckmanuals.com/home/infections/tuberculosis-and-related-infections/tuberculosis-tb] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-positive_bacterial_infectious_disease xref: GARD:7827 xref: MESH:D014375 xref: SNOMEDCT_US_2023_03_01:15202009 xref: UMLS_CUI:C0041295 is_a: DOID:0050338 ! primary bacterial infectious disease property_value: exactMatch "MESH:D014376" xsd:string [Term] id: DOID:3996 name: urinary system cancer def: "An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra." [url:http\://en.wikipedia.org/wiki/Urinary_system] xref: ICD10CM:C68.9 xref: ICD9CM:189.9 xref: SNOMEDCT_US_2023_03_01:448233000 xref: UMLS_CUI:C0348371 is_a: DOID:0050686 ! organ system cancer is_a: DOID:18 ! urinary system disease [Term] id: DOID:3997 name: obsolete urinary tract infiltrating transitional cell carcinoma is_obsolete: true [Term] id: DOID:3998 name: Bartholin's gland transitional cell carcinoma def: "A Bartholin's gland carcinoma that derives_from transitional epithelial cells." [url:https\://www.ncbi.nlm.nih.gov/articles/PMC4081365/] subset: NCIthesaurus synonym: "Bartholin gland transitional cell carcinoma" EXACT [] xref: NCI:C40297 xref: UMLS_CUI:C1511053 is_a: DOID:3999 ! Bartholin's gland carcinoma [Term] id: DOID:3999 name: Bartholin's gland carcinoma def: "A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland." [url:http\://en.wikipedia.org/wiki/Bartholin%27s_gland, url:http\://en.wikipedia.org/wiki/Carcinoma] subset: NCIthesaurus synonym: "Bartholin gland carcinoma" EXACT [] synonym: "carcinoma of Bartholin's gland" EXACT [] xref: NCI:C9055 xref: SNOMEDCT_US_2023_03_01:399533005 xref: UMLS_CUI:C0349561 is_a: DOID:1294 ! vulva carcinoma is_a: DOID:60003 ! Bartholin's gland cancer [Term] id: DOID:4 name: disease def: "A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3041577/] subset: DO_RAD_slim subset: NCIthesaurus xref: MESH:D004194 xref: NCI:C2991 xref: SNOMEDCT_US_2023_03_01:64572001 xref: UMLS_CUI:C0012634 [Term] id: DOID:4000 name: ovary transitional cell carcinoma alt_id: DOID:2637 alt_id: DOID:4002 def: "An ovarian epithelial cancer that derives_from epithelial transitional cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362466/] subset: NCIthesaurus synonym: "malignant ovarian transitional cell neoplasm" EXACT [] synonym: "ovarian transitional cell cancer" EXACT [] synonym: "ovarian transitional cell neoplasm" RELATED [] synonym: "transitional cell carcinoma of Ovary" EXACT [] xref: NCI:C5240 xref: UMLS_CUI:C1335184 is_a: DOID:2152 ! ovary epithelial cancer is_a: DOID:2671 ! transitional cell carcinoma [Term] id: DOID:4001 name: ovarian carcinoma def: "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary." [url:https\://www.cancer.gov/types/ovarian] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim xref: EFO:0001075 xref: UMLS_CUI:C0677886 is_a: DOID:2151 ! malignant ovarian surface epithelial-stromal neoplasm [Term] id: DOID:4003 name: Schneiderian carcinoma subset: NCIthesaurus synonym: "Cylindrical cell carcinoma" EXACT [] xref: ICDO:8121/3 xref: NCI:C54287 xref: SNOMEDCT_US_2023_03_01:5600009 xref: UMLS_CUI:C0334270 is_a: DOID:1357 ! maxillary sinus cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:4005 name: endometrial transitional cell carcinoma def: "An endometrial carcinoma that derives_from transitional epithelial cells." [url:http\://en.wikipedia.org/wiki/Transitional_cell_carcinoma] subset: NCIthesaurus xref: NCI:C40154 xref: UMLS_CUI:C1516864 is_a: DOID:2671 ! transitional cell carcinoma is_a: DOID:2871 ! endometrial carcinoma [Term] id: DOID:4006 name: bladder urothelial carcinoma def: "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder." [url:http\://cancergenome.nih.gov/cancersselected/UrothelialBladderCarcinoma, url:http\://www.cancer.gov/dictionary?cdrid=46629] subset: DO_cancer_slim subset: NCIthesaurus synonym: "bladder transitional cell carcinoma" EXACT [] synonym: "transitional cell carcinoma of bladder" EXACT [] synonym: "urinary bladder urothelial carcinoma" EXACT [] synonym: "urothelial bladder carcinoma" EXACT [] xref: NCI:C39851 xref: SNOMEDCT_US_2023_03_01:393562002 xref: UMLS_CUI:C0279680 is_a: DOID:2671 ! transitional cell carcinoma is_a: DOID:4007 ! bladder carcinoma [Term] id: DOID:4007 name: bladder carcinoma def: "A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:https\://www.mayoclinic.org/diseases-conditions/bladder-cancer/symptoms-causes/syc-20356104] subset: DO_cancer_slim subset: NCIthesaurus synonym: "carcinoma of urinary bladder" EXACT [] xref: NCI:C4912 xref: SNOMEDCT_US_2023_03_01:269607003 xref: UMLS_CUI:C0699885 is_a: DOID:11054 ! urinary bladder cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:4008 name: fallopian tube transitional cell carcinoma def: "A fallopian tube carcinoma that derives_from epithelial transitional cells." [url:https\://pubmed.ncbi.nlm.nih.gov/26894303/] subset: NCIthesaurus xref: NCI:C40104 xref: UMLS_CUI:C1517128 is_a: DOID:1963 ! fallopian tube carcinoma is_a: DOID:2671 ! transitional cell carcinoma [Term] id: DOID:4009 name: obsolete renal pelvis and ureter transitional cell cancer synonym: "Urothelial carcinoma of the renal Pelvis and Ureter" EXACT [] is_obsolete: true [Term] id: DOID:401 name: multidrug-resistant tuberculosis def: "A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs." [url:http\://en.wikipedia.org/wiki/Multidrug-resistant_tuberculosis] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus xref: MESH:D018088 xref: NCI:C128415 xref: SNOMEDCT_US_2023_03_01:423092005 xref: UMLS_CUI:C0206526 is_a: DOID:399 ! tuberculosis [Term] id: DOID:4010 name: obsolete renal pelvis and ureter cancer is_obsolete: true [Term] id: DOID:4011 name: prostate transitional cell carcinoma def: "A prostate carcinoma that derives_from transitional epithelial cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6506393] synonym: "transitional cell carcinoma of prostate" EXACT [] is_a: DOID:10286 ! prostate carcinoma is_a: DOID:2671 ! transitional cell carcinoma [Term] id: DOID:4012 name: papillary transitional carcinoma def: "A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium." [url:https\://www.healthline.com/health/papillary-urothelial-carcinoma] subset: NCIthesaurus synonym: "Papillary transitional cell carcinoma" EXACT [] xref: NCI:C4122 xref: SNOMEDCT_US_2023_03_01:12400006 xref: UMLS_CUI:C0334274 is_a: DOID:2671 ! transitional cell carcinoma [Term] id: DOID:4013 name: urethra transitional cell carcinoma def: "An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter." [url:https\://pubmed.ncbi.nlm.nih.gov/31950597/, url:https\://pubmed.ncbi.nlm.nih.gov/9730148/] subset: NCIthesaurus synonym: "urethral transitional cell carcinoma" EXACT [] xref: NCI:C6166 xref: UMLS_CUI:C0863015 is_a: DOID:2671 ! transitional cell carcinoma is_a: DOID:734 ! urethra cancer [Term] id: DOID:4014 name: sarcomatoid transitional cell carcinoma def: "A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium." [url:http\://www.sciencedirect.com/science/article/pii/S0090429505013439, url:https\://pubmed.ncbi.nlm.nih.gov/16504263/] subset: NCIthesaurus synonym: "transitional cell carcinoma, sarcomatoid" EXACT [] synonym: "transitional spindle cell carcinoma" EXACT [] xref: NCI:C4120 xref: SNOMEDCT_US_2023_03_01:112676006 xref: UMLS_CUI:C0334271 is_a: DOID:2671 ! transitional cell carcinoma [Term] id: DOID:4015 name: sarcomatoid carcinoma def: "A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27004] subset: DO_cancer_slim subset: NCIthesaurus synonym: "spindle cell carcinoma" EXACT [] xref: MESH:D002277 xref: NCI:C27004 xref: SNOMEDCT_US_2023_03_01:65692009 xref: UMLS_CUI:C0205697 is_a: DOID:305 ! carcinoma [Term] id: DOID:402 name: oral tuberculosis def: "A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located in tongue, located in palate, located in maxilla or located in mandible." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16900894] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease xref: MESH:D014393 xref: SNOMEDCT_US_2023_03_01:235067001 xref: UMLS_CUI:C0041323 is_a: DOID:403 ! mouth disease is_a: DOID:404 ! gastrointestinal tuberculosis [Term] id: DOID:4020 name: obsolete psychomotor disease synonym: "psychomotor disorder" EXACT [] is_obsolete: true [Term] id: DOID:4022 name: ureterocele def: "A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23969704] comment: OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus xref: MESH:D014518 xref: MIM:191650 xref: NCI:C123159 xref: SNOMEDCT_US_2023_03_01:12818004 xref: UMLS_CUI:C0041960 is_a: DOID:1426 ! ureteral disease [Term] id: DOID:4023 name: linitis plastica subset: NCIthesaurus synonym: "Leather-bottle stomach" EXACT [] xref: ICDO:8142/3 xref: MESH:D008039 xref: NCI:C3190 xref: SNOMEDCT_US_2023_03_01:307594007 xref: UMLS_CUI:C0023743 is_a: DOID:6217 ! gastric diffuse adenocarcinoma [Term] id: DOID:4024 name: scirrhous adenocarcinoma def: "An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma." [url:https\://pubmed.ncbi.nlm.nih.gov/34084475/] subset: NCIthesaurus synonym: "adenocarcinoma with Productive Fibrosis" EXACT [] xref: ICDO:8141/3 xref: MESH:D002293 xref: NCI:C2928 xref: SNOMEDCT_US_2023_03_01:4584002 xref: UMLS_CUI:C0007135 is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:4025 name: obsolete steatitis comment: non-human, term inherited from mesh, obsoleting:LS xref: MESH:D013231 xref: UMLS_CUI:C0038235 is_obsolete: true [Term] id: DOID:4026 name: obsolete vitamin E deficiency is_obsolete: true [Term] id: DOID:4027 name: obsolete fetal distress synonym: "FETAL DISTRESS" EXACT [] synonym: "Fetal distress" EXACT [] synonym: "Fetal distress (finding)" EXACT [] synonym: "Fetal distress NOS" EXACT [] synonym: "Fetal distress NOS (finding)" EXACT [] synonym: "Fetal distress unspecified (finding)" EXACT [] is_obsolete: true [Term] id: DOID:4028 name: angioma serpiginosum def: "A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin." [url:http\://www.dermnetnz.org/vascular/angioma-serpiginosa.html] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "Angioma serpiginosum of skin" EXACT [] xref: ICD10CM:L81.7 xref: MIM:106050 xref: MIM:300652 xref: NCI:C3926 xref: ORDO:95429 xref: SNOMEDCT_US_2023_03_01:49465005 xref: UMLS_CUI:C0263637 is_a: DOID:471 ! skin hemangioma [Term] id: DOID:4029 name: gastritis alt_id: DOID:4032 alt_id: DOID:8697 alt_id: DOID:8845 alt_id: DOID:9190 def: "A stomach disease that is an inflammation of the lining of the stomach." [url:http\://en.wikipedia.org/wiki/Gastritis] subset: NCIthesaurus synonym: "acute gastric mucosal erosion" EXACT [] synonym: "Erosive Gastritis" EXACT [] synonym: "Erosive gastropathy" EXACT [] xref: ICD10CM:K29.7 xref: MESH:D005756 xref: NCI:C26780 xref: SNOMEDCT_US_2023_03_01:155711008 xref: UMLS_CUI:C0017152 is_a: DOID:76 ! stomach disease [Term] id: DOID:403 name: mouth disease def: "A gastrointestinal system disease that is located_in the mouth." [url:http\://en.wikipedia.org/wiki/Oral_and_maxillofacial_pathology] subset: DO_RAD_slim subset: NCIthesaurus xref: MESH:D009059 xref: NCI:C27641 xref: SNOMEDCT_US_2023_03_01:118938008 xref: UMLS_CUI:C0026636 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:4030 name: eosinophilic gastritis subset: NCIthesaurus xref: ICD9CM:535.7 xref: NCI:C27052 xref: SNOMEDCT_US_2023_03_01:196738004 xref: UMLS_CUI:C0267154 is_a: DOID:4029 ! gastritis [Term] id: DOID:4031 name: eosinophilic gastroenteritis subset: NCIthesaurus xref: ICD9CM:558.41 xref: NCI:C35330 xref: SNOMEDCT_US_2023_03_01:359804008 xref: UMLS_CUI:C1262481 is_a: DOID:2326 ! gastroenteritis [Term] id: DOID:4033 name: bacterial gastritis def: "A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting." [url:http\://www.merck.com/mmhe/sec09/ch121/ch121b.html, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/gastritis-gastropathy/definition-facts] subset: DO_infectious_disease_slim subset: NCIthesaurus xref: NCI:C27340 xref: SNOMEDCT_US_2023_03_01:723096000 xref: UMLS_CUI:C0948039 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:4029 ! gastritis [Term] id: DOID:4034 name: fungal gastritis def: "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients." [url:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html] subset: DO_infectious_disease_slim subset: NCIthesaurus xref: NCI:C27342 xref: SNOMEDCT_US_2023_03_01:723097009 xref: UMLS_CUI:C0948638 is_a: DOID:1564 ! fungal infectious disease is_a: DOID:4029 ! gastritis [Term] id: DOID:4035 name: lymphocytic gastritis subset: NCIthesaurus xref: NCI:C27051 xref: SNOMEDCT_US_2023_03_01:235658000 xref: UMLS_CUI:C1283271 is_a: DOID:4029 ! gastritis [Term] id: DOID:4036 name: obsolete Helicobacter pylori gastritis def: "A commensal Helicobacter infectious disease that involves inflammation of the stomach lining caused by Helicobacter pylori, which contributes to ulcer formation by increasing acid production, interfering with the normal defenses against stomach acid, and producing toxins. The symptoms include indigestion and pain or discomfort in the upper abdomen." [url:http\://jcp.bmjjournals.com/content/54/10/774.full, url:http\://www.merck.com/mmhe/sec09/ch121/ch121b.html] subset: gram-negative_bacterial_infectious_disease synonym: "Helicobacter gastritis" EXACT [] synonym: "Helicobacter-associated gastritis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4037 name: necrotizing gastritis subset: NCIthesaurus xref: NCI:C27329 xref: UMLS_CUI:C0877152 is_a: DOID:4029 ! gastritis [Term] id: DOID:4038 name: granulomatous gastritis subset: NCIthesaurus xref: ICD10CM:K29.6 xref: NCI:C27348 xref: UMLS_CUI:C1112577 is_a: DOID:4029 ! gastritis [Term] id: DOID:4039 name: obsolete Crohn's associated gastritis is_obsolete: true [Term] id: DOID:404 name: gastrointestinal tuberculosis alt_id: DOID:9802 def: "An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom constipation, has_symptom nausea, and has_symptom vomiting." [url:http\://smj.sma.org.sg/5006/5006pe1.pdf, url:https\://www.ncbi.nlm.nih.gov/pubmed/12864956] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease synonym: "Tuberculosis of gastrointestinal tract" EXACT [] synonym: "tuberculosis of intestines, peritoneum and mesenteric glands" EXACT [] synonym: "Tuberculosis of intestines, peritoneum, and mesenteric glands" EXACT [] xref: MESH:D014385 xref: SNOMEDCT_US_2023_03_01:154286002 xref: UMLS_CUI:C0041312 is_a: DOID:0050599 ! abdominal tuberculosis [Term] id: DOID:4043 name: skeletal muscle cancer subset: NCIthesaurus synonym: "malignant tumor of Skeletal Muscle" EXACT [] xref: NCI:C6516 xref: UMLS_CUI:C1334619 is_a: DOID:4045 ! muscle cancer [Term] id: DOID:4044 name: skeletal muscle neoplasm subset: NCIthesaurus synonym: "tumor of Skeletal Muscle" EXACT [] xref: NCI:C6514 xref: SNOMEDCT_US_2023_03_01:699955004 xref: UMLS_CUI:C1335971 is_a: DOID:461 ! muscle benign neoplasm [Term] id: DOID:4045 name: muscle cancer alt_id: DOID:4046 def: "A musculoskeletal system cancer that is located_in muscle." [url:http\://en.wikipedia.org/wiki/Muscle] subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "malignant neoplasm of muscle" EXACT [] synonym: "malignant tumor of muscle" EXACT [] synonym: "malignant tumor of the Muscle" EXACT [] synonym: "myosarcoma" EXACT [] xref: ICD10CM:C49 xref: MESH:D009217 xref: MESH:D019042 xref: NCI:C4883 xref: SNOMEDCT_US_2023_03_01:20667008 xref: SNOMEDCT_US_2023_03_01:93913006 xref: UMLS_CUI:C0027095 xref: UMLS_CUI:C0684743 is_a: DOID:0060100 ! musculoskeletal system cancer is_a: DOID:0080000 ! muscular disease [Term] id: DOID:4047 name: liver rhabdomyosarcoma def: "A rhabdomyosarcoma and sarcoma of liver that are located_in the liver." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/HealthProfessional/page6] subset: NCIthesaurus synonym: "Rhabdomyosarcoma of Liver" EXACT [] xref: NCI:C5834 xref: UMLS_CUI:C1333975 is_a: DOID:270 ! liver sarcoma [Term] id: DOID:4048 name: central nervous system rhabdomyosarcoma subset: NCIthesaurus synonym: "Rhabdomyosarcoma of the CNS" EXACT [] xref: NCI:C5464 xref: UMLS_CUI:C1332891 is_a: DOID:3247 ! rhabdomyosarcoma is_a: DOID:3620 ! central nervous system cancer [Term] id: DOID:4049 name: mediastinum rhabdomyosarcoma def: "A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents." [url:https\://pubmed.ncbi.nlm.nih.gov/28024111/] subset: NCIthesaurus synonym: "Rhabdomyosarcoma of mediastinum" EXACT [] xref: NCI:C6617 xref: UMLS_CUI:C1334677 is_a: DOID:3247 ! rhabdomyosarcoma [Term] id: DOID:4050 name: mediastinum sarcoma def: "A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum." [url:https\://www.sciencedirect.com/science/article/pii/S1556086415305220] subset: NCIthesaurus synonym: "sarcoma of mediastinum" EXACT [] xref: NCI:C6606 xref: UMLS_CUI:C1334678 is_a: DOID:1115 ! sarcoma is_a: DOID:5559 ! mediastinal cancer [Term] id: DOID:4051 name: alveolar rhabdomyosarcoma alt_id: DOID:4382 comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "alveolar childhood rhabdomyosarcoma" EXACT [] xref: GARD:4701 xref: ICDO:8920/3 xref: MESH:D018232 xref: MIM:268220 xref: NCI:C3749 xref: NCI:C7958 xref: SNOMEDCT_US_2023_03_01:404053004 xref: UMLS_CUI:C0206655 xref: UMLS_CUI:C0279613 is_a: DOID:3247 ! rhabdomyosarcoma [Term] id: DOID:4052 name: obsolete rhabdomyosarcoma recurrent synonym: "relapsed Rhabdomyosarcoma" EXACT [] is_obsolete: true [Term] id: DOID:4053 name: rectum rhabdomyosarcoma def: "A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors." [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma] subset: NCIthesaurus synonym: "Rhabdomyosarcoma of rectum" EXACT [] xref: NCI:C5627 xref: UMLS_CUI:C1335687 is_a: DOID:1995 ! rectum sarcoma [Term] id: DOID:4054 name: prostate sarcoma def: "A prostate cancer that is located_in the prostate." [url:https\://radiopaedia.org/articles/prostate-sarcoma] subset: NCIthesaurus synonym: "sarcoma of the prostate" EXACT [] xref: NCI:C7731 xref: UMLS_CUI:C0238393 is_a: DOID:10283 ! prostate cancer is_a: DOID:1115 ! sarcoma [Term] id: DOID:4055 name: ectomesenchymoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Rhabdomyosarcoma with ganglionic differentiation" EXACT [] xref: ICDO:8921/3 xref: NCI:C4716 xref: SNOMEDCT_US_2023_03_01:128750008 xref: UMLS_CUI:C0431111 is_a: DOID:502 ! central nervous system mesenchymal non-meningothelial tumor [Term] id: DOID:4056 name: obsolete adult rhabdomyosarcoma is_obsolete: true [Term] id: DOID:4057 name: gallbladder rhabdomyosarcoma def: "A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles." [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma, url:https\://gut.bmj.com/content/35/6/854] subset: NCIthesaurus synonym: "Rhabdomyosarcoma of the gallbladder" EXACT [] xref: NCI:C5839 xref: UMLS_CUI:C1333756 is_a: DOID:3121 ! gallbladder cancer is_a: DOID:3247 ! rhabdomyosarcoma [Term] id: DOID:4058 name: gallbladder sarcoma def: "A sarcoma that is located_in the gallbladder." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19194282] subset: NCIthesaurus synonym: "malignant mesenchymal tumor of gallbladder" EXACT [] xref: NCI:C5736 xref: UMLS_CUI:C1333757 is_a: DOID:1115 ! sarcoma is_a: DOID:3121 ! gallbladder cancer [Term] id: DOID:4059 name: ovary rhabdomyosarcoma def: "An ovary sarcoma that arises from skeletal muscle progenitors." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9553806] subset: NCIthesaurus synonym: "Rhabdomyosarcoma of Ovary" EXACT [] xref: NCI:C5236 xref: UMLS_CUI:C1335176 is_a: DOID:3247 ! rhabdomyosarcoma [Term] id: DOID:4060 name: breast rhabdomyosarcoma def: "A breast sarcoma that arises from skeletal muscle cells." [url:https\://en.wikipedia.org/wiki/Rhabdomyosarcoma] subset: NCIthesaurus synonym: "Rhabdomyosarcoma of the breast" EXACT [] xref: NCI:C5190 xref: UMLS_CUI:C1332637 is_a: DOID:3017 ! breast sarcoma [Term] id: DOID:4061 name: testis rhabdomyosarcoma def: "A testis sarcoma that arises from mesenchymal cells and is located_in the testis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21470524] subset: NCIthesaurus synonym: "Rhabdomyosarcoma of testis" EXACT [] xref: NCI:C6378 xref: UMLS_CUI:C1336726 is_a: DOID:4062 ! testis sarcoma [Term] id: DOID:4062 name: testis sarcoma def: "A sarcoma and malignant neoplasm of testis that is located_in the testis." [url:https\://jamanetwork.com/journals/jama/fullarticle/462919] subset: NCIthesaurus synonym: "sarcoma of testis" EXACT [] xref: NCI:C6359 xref: UMLS_CUI:C1336727 is_a: DOID:1115 ! sarcoma is_a: DOID:2998 ! testicular cancer [Term] id: DOID:4064 name: bile duct sarcoma def: "A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct." [url:http\://en.wikipedia.org/wiki/Sarcoma_botryoides] subset: NCIthesaurus synonym: "sarcoma of the bile duct" EXACT [] xref: NCI:C5029 xref: UMLS_CUI:C2205442 is_a: DOID:1115 ! sarcoma is_a: DOID:4606 ! bile duct cancer [Term] id: DOID:4065 name: mixed type rhabdomyosarcoma subset: DO_cancer_slim synonym: "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" EXACT [] xref: ICDO:8902/3 xref: SNOMEDCT_US_2023_03_01:62383007 xref: UMLS_CUI:C0334481 is_a: DOID:3247 ! rhabdomyosarcoma [Term] id: DOID:4066 name: anus rhabdomyosarcoma def: "A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422314/] subset: NCIthesaurus synonym: "rhabdomyosarcoma of anus" EXACT [] xref: NCI:C5610 xref: UMLS_CUI:C1332276 is_a: DOID:14110 ! anus cancer is_a: DOID:3247 ! rhabdomyosarcoma [Term] id: DOID:4067 name: anus sarcoma def: "A sarcoma and malignant neoplasm of anus that is located_in the anus." [url:http\://en.wikipedia.org/wiki/Sarcoma] subset: NCIthesaurus synonym: "sarcoma of anus" EXACT [] xref: NCI:C5611 xref: UMLS_CUI:C1332277 is_a: DOID:1115 ! sarcoma is_a: DOID:14110 ! anus cancer [Term] id: DOID:407 name: hepatic tuberculosis def: "A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425874/] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease synonym: "Tuberculosis of liver" EXACT [] xref: MESH:D014386 xref: SNOMEDCT_US_2023_03_01:186273003 xref: UMLS_CUI:C0041313 is_a: DOID:404 ! gastrointestinal tuberculosis is_a: DOID:409 ! liver disease [Term] id: DOID:4071 name: duodenogastric reflux xref: MESH:D004383 xref: SNOMEDCT_US_2023_03_01:9733003 xref: UMLS_CUI:C0013299 is_a: DOID:4072 ! duodenum disease [Term] id: DOID:4072 name: duodenum disease def: "An intestinal disease that is located_in the duodenum." [url:https\://medlineplus.gov/ency/article/002347.htm] synonym: "duodenal disease" EXACT [] synonym: "duodenum disorder" EXACT [] xref: MESH:D004378 xref: SNOMEDCT_US_2023_03_01:196598004 xref: UMLS_CUI:C0013289 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:4073 name: pancreatic cystadenocarcinoma subset: NCIthesaurus synonym: "cystadenocarcinoma of pancreas" EXACT [] xref: NCI:C3874 xref: SNOMEDCT_US_2023_03_01:235966007 xref: UMLS_CUI:C0238337 is_a: DOID:4074 ! pancreatic adenocarcinoma [Term] id: DOID:4074 name: pancreatic adenocarcinoma def: "A pancreatic carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "adenocarcinoma of the pancreas" RELATED [] synonym: "pancreas adenocarcinoma" EXACT [] xref: NCI:C8294 xref: SNOMEDCT_US_2023_03_01:700423003 xref: UMLS_CUI:C0281361 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4905 ! pancreatic carcinoma [Term] id: DOID:4075 name: bile duct cystadenocarcinoma subset: NCIthesaurus synonym: "biliary cystadenocarcinoma" EXACT [] xref: ICDO:8161/3 xref: NCI:C4130 xref: SNOMEDCT_US_2023_03_01:50422007 xref: UMLS_CUI:C0334286 is_a: DOID:4896 ! bile duct adenocarcinoma [Term] id: DOID:4076 name: obsolete pleomorphic adenoma of the breast is_obsolete: true [Term] id: DOID:4077 name: obsolete metastasizing mixed tumor of salivary gland is_obsolete: true [Term] id: DOID:4078 name: tricuspid valve stenosis def: "A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve." [url:http\://en.wikipedia.org/wiki/Tricuspid_valve_stenosis] subset: NCIthesaurus synonym: "Tricuspid stenosis" EXACT [] xref: MESH:D014264 xref: NCI:C50783 xref: SNOMEDCT_US_2023_03_01:49915006 xref: UMLS_CUI:C0040963 is_a: DOID:0050826 ! tricuspid valve disease [Term] id: DOID:4079 name: heart valve disease alt_id: DOID:989 def: "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right)." [url:http\://en.wikipedia.org/wiki/Heart_valve_disease] subset: DO_RAD_slim subset: NCIthesaurus synonym: "Valvular heart disease" EXACT [] xref: MESH:D006349 xref: MESH:D016127 xref: NCI:C45525 xref: SNOMEDCT_US_2023_03_01:368009 xref: SNOMEDCT_US_2023_03_01:398995000 xref: UMLS_CUI:C0018824 xref: UMLS_CUI:C0079485 is_a: DOID:114 ! heart disease [Term] id: DOID:4080 name: tricuspid valve insufficiency def: "A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal." [url:http\://en.wikipedia.org/wiki/Tricuspid_insufficiency] subset: NCIthesaurus synonym: "Tricuspid incompetence" EXACT [] synonym: "Tricuspid regurgitation" EXACT [] synonym: "Tricuspid valve regurgitation" EXACT [] xref: MESH:D014262 xref: NCI:C50842 xref: SNOMEDCT_US_2023_03_01:111287006 xref: UMLS_CUI:C0040961 is_a: DOID:0050826 ! tricuspid valve disease [Term] id: DOID:4084 name: testicular trophoblastic tumor subset: NCIthesaurus xref: NCI:C39934 xref: UMLS_CUI:C1515301 is_a: DOID:2998 ! testicular cancer is_a: DOID:4085 ! trophoblastic neoplasm [Term] id: DOID:4085 name: trophoblastic neoplasm def: "A germ cell and embryonal cancer that derives_from trophoblastic tissue." [url:http\://en.wikipedia.org/wiki/Trophoblastic_neoplasm] subset: NCIthesaurus synonym: "Trophoblastic tumor" EXACT [] xref: MESH:D014328 xref: NCI:C3422 xref: SNOMEDCT_US_2023_03_01:115234004 xref: UMLS_CUI:C0041182 is_a: DOID:3095 ! germ cell and embryonal cancer [Term] id: DOID:4086 name: testicular germ cell tumor non-seminomatous def: "A testicular germ cell cancer characterized by the absence of a seminomatous component." [url:https\://pubmed.ncbi.nlm.nih.gov/24819978/] subset: NCIthesaurus synonym: "Testicular Non-Seminomatous Germ Cell Tumor" EXACT [] xref: ICDO:9065/3 xref: NCI:C9313 xref: SNOMEDCT_US_2023_03_01:107691000119101 xref: UMLS_CUI:C2057625 is_a: DOID:5557 ! testicular germ cell cancer [Term] id: DOID:4087 name: testicular pure germ cell tumor subset: NCIthesaurus xref: NCI:C39915 xref: UMLS_CUI:C1514608 is_a: DOID:5557 ! testicular germ cell cancer [Term] id: DOID:4088 name: obsolete Torovirus infectious disease def: "A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces." [url:http\://www.expasy.org/viralzone/all_by_species/127.html] is_obsolete: true [Term] id: DOID:409 name: liver disease alt_id: DOID:2164 alt_id: DOID:2165 alt_id: DOID:46 subset: DO_RAD_slim subset: NCIthesaurus synonym: "disorder of liver" EXACT [] synonym: "hepatic disorder" EXACT [] xref: ICD10CM:K76.9 xref: ICD9CM:573.9 xref: MESH:D008107 xref: NCI:C3196 xref: SNOMEDCT_US_2023_03_01:62857009 xref: UMLS_CUI:C0023895 is_a: DOID:3118 ! hepatobiliary disease [Term] id: DOID:4090 name: agnosia alt_id: DOID:4019 def: "A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss." [url:http\://en.wikipedia.org/wiki/Agnosia] subset: DO_rare_slim subset: NCIthesaurus synonym: "Dyspraxia" EXACT [] synonym: "Dyspraxia syndrome" EXACT [] xref: GARD:8 xref: ICD10CM:R48.1 xref: MESH:D000377 xref: NCI:C84542 xref: SNOMEDCT_US_2023_03_01:42341009 xref: UMLS_CUI:C0001816 is_a: DOID:2033 ! communication disorder property_value: exactMatch "MESH:D000377" xsd:string [Term] id: DOID:4091 name: obsolete Caliciviridae infectious disease def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses." [url:http\://en.wikipedia.org/wiki/Caliciviridae] is_obsolete: true [Term] id: DOID:4092 name: obsolete vesicular exanthema of swine def: "A viral infectious disease that results_in_formation_of vesicles located_in epithelium of the snout, lips, nostrils, tongue, feet and mammary glands of swine, has_material_basis_in Vesicular exanthema of swine virus, which is transmitted_by direct contact." [url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/54600.htm] synonym: "VES" EXACT [] is_obsolete: true [Term] id: DOID:4099 name: obsolete metastatic squamous cell carcinoma synonym: "metastatic squamous cell carcinoma" EXACT [] synonym: "metastatic squamous cell carcinoma (disorder)" EXACT [] synonym: "squamous cell carcinoma, metastatic (morphologic abnormality)" EXACT [] synonym: "squamous cell carcinoma, metastatic NOS (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:410 name: obsolete tuberculous ascites subset: gram-positive_bacterial_infectious_disease synonym: "Tuberculous Ascites" EXACT [] synonym: "Tuberculous ascites (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4102 name: obsolete secondary carcinoma synonym: "secondary carcinoma" EXACT [] synonym: "secondary carcinoma NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4104 name: obsolete rinderpest def: "A viral infectious disease that results_in infection in cattle, has_material_basis_in Rinderpest virus, which is transmitted_by direct contact with an infected animal, or transmitted_by ingestion of contaminated water. The infection has_symptom fever, has_symptom nasal and eye discharge, and results_in_formation_of erosions in the mouth, the lining of the nose and the genital tract." [url:http\://en.wikipedia.org/wiki/Rinderpest] synonym: "cattle plague" EXACT [] synonym: "steppe murrain" EXACT [] is_obsolete: true [Term] id: DOID:4105 name: obsolete canine distemper def: "A viral infectious disease that results_in infection located_in respiratory system, located_in gastrointestinal system, and located_in nervous system of dogs, foxes, wolves, coyotes, raccoons, skunks, and ferrets, has_material_basis_in Canine distemper virus, which is transmitted_by droplet spread of respiratory secretions from an infected animal. The infection has_symptom fever, has_symptom nasal discharge, has_symptom coughing, has_symptom vomiting, has_symptom diarrhea, has_symptom seizures, and has_symptom twitching." [url:http\://www.avma.org/animal_health/brochures/canine_distemper/distemper_brochure.asp] is_obsolete: true [Term] id: DOID:4106 name: obsolete commensal Bacteroidaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:4107 name: obsolete primary Flavobacteriaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:4109 name: tick infestation def: "A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice." [url:http\://en.wikipedia.org/wiki/Tick, url:http\://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm] subset: DO_infectious_disease_slim xref: MESH:D013984 xref: UMLS_CUI:C0040196 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease [Term] id: DOID:411 name: obsolete bovine tuberculosis subset: gram-positive_bacterial_infectious_disease subset: zoonotic_infectious_disease synonym: "Bovine tuberculosis (disorder)" EXACT [] synonym: "Infection due to Mycobacterium bovis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4110 name: parasitic ectoparasitic infectious disease def: "A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host." [url:http\://en.wikipedia.org/wiki/Ectoparasitic_infestation] subset: DO_infectious_disease_slim synonym: "ectoparasitism" EXACT [] xref: MESH:D004478 xref: UMLS_CUI:C0013578 is_a: DOID:1398 ! parasitic infectious disease [Term] id: DOID:4111 name: cervical adenosarcoma def: "A cervical carcinosarcoma that is located_in the cervix." [url:https\://pubmed.ncbi.nlm.nih.gov/17292949/] subset: NCIthesaurus synonym: "cervical Muellerian adenosarcoma" EXACT [] synonym: "cervical Mullerian adenosarcoma" EXACT [] xref: NCI:C40229 xref: SNOMEDCT_US_2023_03_01:764847000 xref: UMLS_CUI:C1516426 is_a: DOID:4112 ! cervical carcinosarcoma [Term] id: DOID:4112 name: cervical carcinosarcoma alt_id: DOID:4431 alt_id: DOID:6173 def: "A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18357808] subset: NCIthesaurus synonym: "cervical malignant mixed mesodermal mullerian tumor" EXACT [] synonym: "cervical malignant mixed Mullerian tumor" EXACT [] synonym: "cervical mixed epithelial and mesenchymal neoplasm" EXACT [] xref: NCI:C36097 xref: NCI:C40226 xref: NCI:C40228 xref: SNOMEDCT_US_2023_03_01:764951002 xref: UMLS_CUI:C1332917 xref: UMLS_CUI:C1516420 xref: UMLS_CUI:C1518168 is_a: DOID:4362 ! cervical cancer [Term] id: DOID:4113 name: uterine corpus adenosarcoma def: "An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus." [url:http\://www.wrongdiagnosis.com/a/adenosarcoma_of_the_uterus/intro.htm] subset: NCIthesaurus synonym: "adenosarcoma of uterine corpus" RELATED [] synonym: "uterine Corpus mullerian adenosarcoma" EXACT [] xref: NCI:C6336 xref: UMLS_CUI:C1336917 is_a: DOID:4114 ! uterine body mixed cancer [Term] id: DOID:4114 name: uterine body mixed cancer def: "A uterine corpus cancer that has_material_basis_in more than one type of cell." [url:http\://en.wikipedia.org/wiki/Uterine_cancer] subset: NCIthesaurus synonym: "malignant mixed tumor of Corpus Uteri" EXACT [] xref: NCI:C6311 xref: UMLS_CUI:C1334628 is_a: DOID:9460 ! uterine corpus cancer [Term] id: DOID:4115 name: ovarian mesodermal adenosarcoma def: "An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12360039] subset: NCIthesaurus synonym: "Ovarian mullerian Adenosarcoma" EXACT [] xref: NCI:C7317 xref: UMLS_CUI:C1335169 is_a: DOID:6170 ! ovarian carcinosarcoma [Term] id: DOID:4117 name: vaginal adenosarcoma def: "A vaginal carcinosarcoma derives_from the glands that line the uterus." [url:http\://www.wrongdiagnosis.com/medical/mullerian_adenosarcoma_of_the_uterus.htm] subset: NCIthesaurus xref: NCI:C40277 xref: UMLS_CUI:C1519914 is_a: DOID:136 ! vaginal carcinosarcoma [Term] id: DOID:4118 name: colon neuroendocrine neoplasm subset: NCIthesaurus synonym: "Colonic neuroendocrine tumor" EXACT [] xref: NCI:C5697 xref: SNOMEDCT_US_2023_03_01:1162856006 xref: UMLS_CUI:C1333097 is_a: DOID:235 ! colonic benign neoplasm [Term] id: DOID:4119 name: intestinal neuroendocrine benign tumor subset: NCIthesaurus synonym: "intestinal neuroendocrine benign tumour" EXACT [] synonym: "neuroendocrine tumor of Intestine" EXACT [] synonym: "neuroendocrine tumour of Intestine" EXACT [] xref: NCI:C5695 xref: UMLS_CUI:C1334231 is_a: DOID:4610 ! intestinal benign neoplasm [Term] id: DOID:412 name: obsolete atypical Mycobacterium infectious disease subset: gram-positive_bacterial_infectious_disease synonym: "Atypical mycobacterium infection NOS" EXACT [] synonym: "Infection due to mycobacterium, non-TB" EXACT [] synonym: "Mycobacterial infection (excluding tuberculosis AND leprosy) (disorder)" EXACT [] synonym: "Mycobacterial infection, NOS (excluding tuberculosis and leprosy)" EXACT [] is_obsolete: true [Term] id: DOID:4121 name: obsolete West Nile virus infectious disease def: "A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back." [url:http\://en.wikipedia.org/wiki/West_Nile_virus, url:http\://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:4123 name: nail disease def: "An integumentary system disease that is located_in nail." [url:http\://en.wikipedia.org/wiki/Nail_disease] xref: ICD10CM:L60 xref: ICD9CM:703 xref: MESH:D009260 xref: SNOMEDCT_US_2023_03_01:17790008 xref: UMLS_CUI:C0027339 is_a: DOID:16 ! integumentary system disease [Term] id: DOID:413 name: obsolete avian tuberculosis def: "A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense." [url:http\://www.oie.int/fr/normes/mmanual/2008/pdf/2.03.06_AVIAN_TB.pdf] subset: gram-positive_bacterial_infectious_disease synonym: "Avian tuberculosis (disorder)" EXACT [] synonym: "Infection due to Mycobacterium avium (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4131 name: erythrasma def: "A pyoderma that is characterized by brown, scaly skin patches that are generalized or iterdigital (between the toes or fingers) and is caused by infection with corynebacterium minutissimum." [url:https\://en.wikipedia.org/wiki/Erythrasma, url:https\://www.ncbi.nlm.nih.gov/pubmed/30020724] synonym: "Infection due to Corynebacterium minutissimum" EXACT [] xref: ICD10CM:L08.1 xref: MESH:D004894 xref: SNOMEDCT_US_2023_03_01:266185008 xref: UMLS_CUI:C0014752 is_a: DOID:4223 ! pyoderma [Term] id: DOID:4136 name: myxosarcoma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8840/3 xref: MESH:D009236 xref: NCI:C3255 xref: SNOMEDCT_US_2023_03_01:28351005 xref: UMLS_CUI:C0027155 is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:4137 name: common bile duct disease def: "A bile duct disease that is located_in the common bile duct." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/common-bile-duct] xref: MESH:D003137 xref: UMLS_CUI:C0009440 is_a: DOID:4138 ! bile duct disease [Term] id: DOID:4138 name: bile duct disease def: "A biliary tract disease located_in one or more bile ducts." [url:https\://medlineplus.gov/bileductdiseases.html, url:https\://www.health.harvard.edu/a_to_z/bile-duct-diseases-a-to-z, url:https\://www.nyp.org/cadc/liver-diseases-and-transplantation/bile-duct-disorders] subset: NCIthesaurus synonym: "bile duct disorder" EXACT [] synonym: "disorder of bile duct" EXACT [] xref: MESH:D001649 xref: NCI:C96716 xref: SNOMEDCT_US_2023_03_01:118926004 xref: UMLS_CUI:C0005395 is_a: DOID:9741 ! biliary tract disease [Term] id: DOID:414 name: obsolete cardiovascular tuberculosis subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:4140 name: biliary dyskinesia alt_id: DOID:4139 def: "A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree." [url:http\://en.wikipedia.org/wiki/Biliary_dyskinesia] synonym: "sphincter of oddi dysfunction" EXACT [] xref: MESH:D001657 xref: SNOMEDCT_US_2023_03_01:43469007 xref: UMLS_CUI:C0005416 is_a: DOID:0060262 ! gallbladder disease [Term] id: DOID:4141 name: intraorbital meningioma def: "A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance." [url:http\://www.mayfieldclinic.com/pe-meni.htm] subset: NCIthesaurus xref: MESH:D008579 xref: NCI:C6778 xref: UMLS_CUI:C1334261 is_a: DOID:3565 ! meningioma is_a: DOID:4143 ! orbital cancer [Term] id: DOID:4142 name: obsolete meningioma by site is_obsolete: true [Term] id: DOID:4143 name: orbital cancer alt_id: DOID:9984 def: "A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis." [url:https\://www.ncbi.nlm.nih.gov/books/NBK13668/] subset: NCIthesaurus synonym: "malignant neoplasm of orbit" EXACT [] synonym: "neoplasm of orbit proper" EXACT [] synonym: "orbit cancer" EXACT [] synonym: "orbital tumor" EXACT [] xref: ICD10CM:C69.6 xref: ICD9CM:190.1 xref: MESH:D009918 xref: NCI:C3290 xref: NCI:C3562 xref: SNOMEDCT_US_2023_03_01:127003006 xref: SNOMEDCT_US_2023_03_01:363462005 xref: UMLS_CUI:C0029185 xref: UMLS_CUI:C0153626 is_a: DOID:184 ! bone cancer is_a: DOID:930 ! orbital disease [Term] id: DOID:4144 name: obsolete herpes zoster dermatitis synonym: "Herpes zoster dermatitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4147 name: gastrointestinal adenoma subset: NCIthesaurus synonym: "GI adenoma" EXACT [] xref: NCI:C36207 xref: UMLS_CUI:C0948101 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:4148 name: gastrointestinal neuroendocrine benign tumor subset: NCIthesaurus xref: NCI:C27721 xref: UMLS_CUI:C1333799 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm [Term] id: DOID:4151 name: skull base chordoma def: "A chordoma that is located_in the skull base." [url:https\://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=134&ContentID=85] subset: NCIthesaurus synonym: "Chordoma of the Skull Base" EXACT [] xref: NCI:C5453 xref: UMLS_CUI:C1335975 is_a: DOID:3302 ! chordoma [Term] id: DOID:4152 name: chondroid chordoma def: "A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma." [url:http\://www.ajnr.org/ajnr-case-collections-diagnosis/chondroid-chordoma, url:https\://my.clevelandclinic.org/health/diseases/17916-chordoma, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/] subset: DO_rare_slim subset: NCIthesaurus xref: ICDO:9371/3 xref: NCI:C6902 xref: SNOMEDCT_US_2023_03_01:128784007 xref: UMLS_CUI:C1266173 is_a: DOID:3302 ! chordoma [Term] id: DOID:4153 name: spinal chordoma def: "A chordoma that derives_from the spine." [url:http\://www.hopkinsmedicine.org/neurology_neurosurgery/conditions_main/chordoma.html] subset: NCIthesaurus synonym: "Chordoma of Spine" EXACT [] xref: NCI:C5156 is_a: DOID:0060564 ! spinal disease is_a: DOID:3302 ! chordoma [Term] id: DOID:4154 name: dentinogenesis imperfecta def: "A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22." [url:https\://pubmed.ncbi.nlm.nih.gov/19021896/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6258 xref: ICD10CM:K00.5 xref: MESH:D003811 xref: MIM:125490 xref: MIM:125500 xref: NCI:C84667 xref: ORDO:49042 xref: SNOMEDCT_US_2023_03_01:367461002 xref: UMLS_CUI:C0011436 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1091 ! tooth disease [Term] id: DOID:4156 name: primary syphilis def: "A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=primary+syphilis] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "early symptomatic syphilis" EXACT [] synonym: "early syphilis, symptomatic" EXACT [] synonym: "Symptomatic early syphilis" EXACT [] xref: ICD9CM:091 xref: SNOMEDCT_US_2023_03_01:186846005 xref: UMLS_CUI:C0153139 is_a: DOID:4166 ! syphilis [Term] id: DOID:4157 name: secondary syphilis alt_id: DOID:12122 def: "A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=secondary+syphilis] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: sexually_transmitted_infectious_disease synonym: "secondary syphilis of viscera or bone" EXACT [] xref: ICD9CM:091.9 xref: MESH:C536773 xref: NCI:C128413 xref: SNOMEDCT_US_2023_03_01:154382002 xref: UMLS_CUI:C0149985 is_a: DOID:4166 ! syphilis [Term] id: DOID:4159 name: skin cancer def: "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." [url:https\://medlineplus.gov/skincancer.html, url:https\://www.genome.gov/Genetic-Disorders/Skin-Cancer] subset: DO_CFDE_slim subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "CA - skin cancer" EXACT [] synonym: "cancer of skin" RELATED [] synonym: "malignant neoplasm of skin" EXACT [] synonym: "melanoma and Non-melanoma skin cancer" EXACT [] xref: GARD:10421 xref: MESH:D012878 xref: NCI:C2920 xref: SNOMEDCT_US_2023_03_01:94047004 xref: UMLS_CUI:C0007114 is_a: DOID:0060122 ! integumentary system cancer is_a: DOID:37 ! skin disease [Term] id: DOID:4160 name: differentiating neuroblastoma subset: NCIthesaurus xref: NCI:C42048 xref: UMLS_CUI:C1511934 is_a: DOID:769 ! neuroblastoma [Term] id: DOID:4161 name: obsolete relapsed neuroblastoma is_obsolete: true [Term] id: DOID:4163 name: ganglioneuroblastoma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9490/3 xref: MESH:D018305 xref: NCI:C3790 xref: SNOMEDCT_US_2023_03_01:116381000119105 xref: UMLS_CUI:C0206718 is_a: DOID:769 ! neuroblastoma [Term] id: DOID:4164 name: cerebral neuroblastoma def: "A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells." [url:https\://en.wikipedia.org/wiki/Neuroblastoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/6886755] subset: NCIthesaurus synonym: "neuroblastoma of brain" EXACT [] synonym: "neuroblastoma of Cerebrum" EXACT [] synonym: "neuroblastoma of the cerebral hemisphere" EXACT [] xref: NCI:C4826 xref: SNOMEDCT_US_2023_03_01:281560004 xref: UMLS_CUI:C0559458 is_a: DOID:368 ! cerebrum cancer [Term] id: DOID:4165 name: obsolete regional neuroblastoma is_obsolete: true [Term] id: DOID:4166 name: syphilis alt_id: DOID:11095 def: "A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." [url:http\://en.wikipedia.org/wiki/Syphilis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syphilis] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "syphilitic chancre" EXACT [] xref: ICD10CM:A51.0 xref: MESH:D002601 xref: SNOMEDCT_US_2023_03_01:736686006 xref: UMLS_CUI:C0007939 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:417 name: autoimmune disease def: "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues." [url:http\://en.wikipedia.org/wiki/Autoimmune_disease] {comment="ls:IEDB"} comment: Xref MGI. synonym: "autoimmune hypersensitivity disease" EXACT [] synonym: "hypersensitivity reaction type II disease" EXACT [] xref: ICD9CM:720 xref: MIM:109100 xref: UMLS_CUI:C0003089 is_a: DOID:612 ! primary immunodeficiency disease property_value: OBI:9991118 "autoimmune disease" xsd:string [Term] id: DOID:4170 name: obsolete localized resectable neuroblastoma is_obsolete: true [Term] id: DOID:4172 name: obsolete localized unresectable neuroblastoma is_obsolete: true [Term] id: DOID:4173 name: obsolete disseminated neuroblastoma synonym: "metastatic neuroblastoma" EXACT [] is_obsolete: true [Term] id: DOID:4175 name: Rh isoimmunization subset: NCIthesaurus synonym: "Rh incompatibility affecting management of mother" EXACT [] xref: MESH:D012203 xref: NCI:C113150 xref: SNOMEDCT_US_2023_03_01:199580004 xref: UMLS_CUI:C0035404 is_a: DOID:4176 ! blood group incompatibility [Term] id: DOID:4176 name: blood group incompatibility xref: MESH:D001787 xref: UMLS_CUI:C0005806 is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:418 name: systemic scleroderma def: "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." [url:https\://ghr.nlm.nih.gov/condition/systemic-scleroderma] {comment="sn:IEDB"} subset: DO_rare_slim subset: NCIthesaurus synonym: "progressive systemic sclerosis" EXACT [] synonym: "Scleroderma" EXACT [] synonym: "Scleroderma syndrome" EXACT [] synonym: "systemic sclerosis" EXACT [] xref: EFO:0000717 xref: GARD:9748 xref: ICD10CM:M34.0 xref: ICD9CM:710.1 xref: MESH:D012595 xref: MIM:181750 xref: NCI:C72070 xref: SNOMEDCT_US_2023_03_01:89155008 xref: UMLS_CUI:C0036421 is_a: DOID:419 ! scleroderma [Term] id: DOID:4183 name: pseudopseudohypoparathyroidism comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Normocalcemic pseudohypoparathyroidism" EXACT [] xref: GARD:7860 xref: MESH:D011556 xref: MIM:612463 xref: NCI:C129722 xref: SNOMEDCT_US_2023_03_01:190867002 xref: UMLS_CUI:C0033835 is_a: DOID:4184 ! pseudohypoparathyroidism [Term] id: DOID:4184 name: pseudohypoparathyroidism comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10758 xref: ICD10CM:E20.1 xref: MESH:D011547 xref: MIM:612462 xref: NCI:C99027 xref: SNOMEDCT_US_2023_03_01:190867002 xref: UMLS_CUI:C0033806 is_a: DOID:896 ! metal metabolism disorder property_value: exactMatch "MESH:D011547" xsd:string [Term] id: DOID:4186 name: articulation disorder def: "A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand." [url:https\://www.stanfordchildrens.org/en/topic/default?id=speech-sound-disorders-in-children-160-236] synonym: "Articulation impairment" EXACT [] synonym: "Phonological disorder" EXACT [] xref: MESH:D001184 xref: SNOMEDCT_US_2023_03_01:8187005 xref: UMLS_CUI:C0003910 is_a: DOID:92 ! speech disorder [Term] id: DOID:4188 name: echolalia def: "A speech disorder that involves the automatic repetition of vocalizations made by another person." [url:http\://en.wikipedia.org/wiki/Echolalia] subset: NCIthesaurus xref: MESH:D004454 xref: NCI:C97166 xref: SNOMEDCT_US_2023_03_01:64712007 xref: UMLS_CUI:C0013528 is_a: DOID:92 ! speech disorder [Term] id: DOID:4189 name: mutism def: "A speech disorder that involves a complete inability to speak." [url:http\://en.wikipedia.org/wiki/Mutism, url:http\://en.wikipedia.org/wiki/Speech_disorder] xref: MESH:D009155 xref: SNOMEDCT_US_2023_03_01:267771000 xref: UMLS_CUI:C0026884 is_a: DOID:92 ! speech disorder [Term] id: DOID:419 name: scleroderma def: "A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs." [url:http\://www.niams.nih.gov/Health_Info/Scleroderma/default.asp, url:https\://scleroderma.org/] subset: NCIthesaurus synonym: "dermatosclerosis" EXACT [] xref: MESH:D012594 xref: NCI:C26746 xref: SNOMEDCT_US_2023_03_01:201440007 xref: UMLS_CUI:C0011644 is_a: DOID:1575 ! rheumatic disease [Term] id: DOID:4193 name: intracranial thrombosis alt_id: DOID:12751 synonym: "cerebral thrombosis" EXACT [] xref: ICD9CM:434.0 xref: MESH:D020767 xref: SNOMEDCT_US_2023_03_01:155401002 xref: UMLS_CUI:C0079102 xref: UMLS_CUI:C0752143 is_a: DOID:0060903 ! thrombosis is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:4194 name: glucose metabolism disease def: "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range." [url:https\://empendium.com/mcmtextbook/chapter/B31.II.24.11., url:https\://pubmed.ncbi.nlm.nih.gov/39067965/] subset: NCIthesaurus synonym: "disorder of glucose metabolism" EXACT [] xref: MESH:D044882 xref: NCI:C53655 xref: SNOMEDCT_US_2023_03_01:126877002 xref: UMLS_CUI:C1257958 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:4195 name: hyperglycemia subset: NCIthesaurus xref: ICD10CM:R73.9 xref: MESH:D006943 xref: NCI:C26797 xref: SNOMEDCT_US_2023_03_01:144187006 xref: UMLS_CUI:C0020456 is_a: DOID:4194 ! glucose metabolism disease [Term] id: DOID:4196 name: femoral neuropathy def: "A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve." [url:https\://medlineplus.gov/ency/article/000687.htm] subset: NCIthesaurus synonym: "femoral nerve dysfunction" EXACT [] synonym: "Femoral nerve lesions" EXACT [] xref: ICD10CM:G57.2 xref: MESH:D020428 xref: NCI:C27595 xref: SNOMEDCT_US_2023_03_01:25690000 xref: UMLS_CUI:C0751931 is_a: DOID:1188 ! mononeuropathy [Term] id: DOID:420 name: hypertrichosis def: "A hair disease characterized by hair growth that is abnormal in quantity or location." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18328202] subset: DO_rare_slim subset: NCIthesaurus xref: ICD10CM:L68 xref: MESH:D006983 xref: NCI:C79597 xref: ORDO:79365 xref: SNOMEDCT_US_2023_03_01:201164001 xref: UMLS_CUI:C0020555 is_a: DOID:421 ! hair disease [Term] id: DOID:4200 name: obsolete commensal Bifidobacteriales infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:4201 name: peroneal neuropathy subset: NCIthesaurus xref: MESH:D020427 xref: NCI:C27596 xref: UMLS_CUI:C0747533 is_a: DOID:1188 ! mononeuropathy [Term] id: DOID:4202 name: brain stem glioma def: "A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells." [url:https\://en.wikipedia.org/wiki/Brainstem_glioma] subset: NCIthesaurus synonym: "Brainstem Neuroglial tumor" EXACT [] xref: NCI:C8501 xref: SNOMEDCT_US_2023_03_01:444545003 xref: UMLS_CUI:C0677865 is_a: DOID:3070 ! high grade glioma is_a: DOID:4203 ! brain stem cancer [Term] id: DOID:4203 name: brain stem cancer alt_id: DOID:13974 alt_id: DOID:4204 alt_id: DOID:4208 subset: DO_rare_slim subset: NCIthesaurus synonym: "malignant neoplasm of brain stem" EXACT [] synonym: "malignant neoplasm of brainstem" EXACT [] synonym: "neoplasm of adult brain stem" EXACT [] synonym: "neoplasm of brain stem" EXACT [] synonym: "primary brain stem neoplasm" EXACT [] synonym: "primary brain Stem tumor" EXACT [] xref: GARD:8244 xref: ICD10CM:C71.7 xref: ICD9CM:191.7 xref: MESH:D020295 xref: NCI:C3570 xref: NCI:C4869 xref: NCI:C4975 xref: NCI:C5967 xref: SNOMEDCT_US_2023_03_01:126961004 xref: SNOMEDCT_US_2023_03_01:93726004 xref: UMLS_CUI:C0153641 xref: UMLS_CUI:C0677866 xref: UMLS_CUI:C0751886 xref: UMLS_CUI:C1332192 is_a: DOID:4706 ! infratentorial cancer [Term] id: DOID:4205 name: cerebellum cancer alt_id: DOID:12786 subset: NCIthesaurus synonym: "cerebellar cancer" EXACT [] synonym: "malignant tumor of Cerebellum" EXACT [] xref: ICD10CM:C71.6 xref: ICD9CM:191.6 xref: MESH:D002528 xref: NCI:C2935 xref: NCI:C3569 xref: SNOMEDCT_US_2023_03_01:126960003 xref: SNOMEDCT_US_2023_03_01:449420002 xref: UMLS_CUI:C0007762 xref: UMLS_CUI:C0153640 is_a: DOID:2786 ! cerebellar disease is_a: DOID:4706 ! infratentorial cancer [Term] id: DOID:4206 name: childhood brain stem neoplasm def: "A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5969] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric tumor of Brainstem" EXACT [] xref: NCI:C5969 xref: UMLS_CUI:C1332951 is_a: DOID:4203 ! brain stem cancer [Term] id: DOID:4207 name: childhood infratentorial neoplasm def: "A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5802] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric Infratentorial tumor" EXACT [] xref: NCI:C5802 xref: UMLS_CUI:C1332973 is_a: DOID:4203 ! brain stem cancer [Term] id: DOID:4209 name: brainstem intraparenchymal clear cell meningioma subset: NCIthesaurus synonym: "Intraparenchymal Clear cell meningioma of the Brainstem" EXACT [] xref: NCI:C5295 xref: UMLS_CUI:C1332612 is_a: DOID:4210 ! clear cell meningioma [Term] id: DOID:421 name: hair disease def: "An integumentary system disease that is located_in hair." [url:http\://en.wikipedia.org/wiki/Hair_disease] subset: NCIthesaurus xref: MESH:D006201 xref: NCI:C34656 xref: SNOMEDCT_US_2023_03_01:267862002 xref: UMLS_CUI:C0018500 is_a: DOID:16 ! integumentary system disease [Term] id: DOID:4210 name: clear cell meningioma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9538/1 xref: MESH:D008579 xref: NCI:C4722 xref: SNOMEDCT_US_2023_03_01:134213009 xref: UMLS_CUI:C0431121 is_a: DOID:3565 ! meningioma [Term] id: DOID:4211 name: posterior fossa meningioma def: "A meningioma that affects the posterior cranial fossa." [url:https\://pubmed.ncbi.nlm.nih.gov/33814376/] subset: NCIthesaurus synonym: "meningioma of the Posterior Cranial Fossa" EXACT [] synonym: "posterior cranial fossa meningioma" EXACT [] xref: MESH:D008579 xref: NCI:C6775 xref: UMLS_CUI:C1565950 is_a: DOID:3565 ! meningioma [Term] id: DOID:4217 name: malignant ovarian Brenner tumor def: "A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40026] subset: NCIthesaurus xref: MESH:D001948 xref: NCI:C4270 xref: SNOMEDCT_US_2023_03_01:42194009 xref: UMLS_CUI:C0334495 is_a: DOID:2151 ! malignant ovarian surface epithelial-stromal neoplasm [Term] id: DOID:422 name: congenital structural myopathy def: "A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills." [url:https\://pubmed.ncbi.nlm.nih.gov/23897157/] subset: DO_FlyBase_slim subset: NCIthesaurus xref: MESH:D020914 xref: NCI:C84648 xref: UMLS_CUI:C0752282 is_a: DOID:0080015 ! physical disorder is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:4223 name: pyoderma def: "A dermatitis that is characterized by a pyogenic infection causing the formation of pus." [url:http\://en.wikipedia.org/wiki/Pyoderma, url:http\://en.wikipedia.org/wiki/Pyogenic] xref: ICD10CM:L08.0 xref: ICD9CM:686.0 xref: MESH:D011711 xref: SNOMEDCT_US_2023_03_01:267838007 xref: UMLS_CUI:C0034212 is_a: DOID:2723 ! dermatitis [Term] id: DOID:4224 name: obsolete adult soft tissue sarcoma def: "A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body." [url:http\://www.cancer.gov/cancertopics/types/soft-tissue-sarcoma] synonym: "adult sarcoma of the soft tissue" EXACT [] is_obsolete: true [Term] id: DOID:4226 name: endometrial stromal sarcoma def: "An endometrial stromal tumor that has_material_basis_in connective tissue." [url:https\://en.wikipedia.org/wiki/Endometrial_stromal_sarcoma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "endometrial stromal sarcoma, high grade" EXACT [] synonym: "ESS" EXACT OMO:0003012 [] synonym: "Undifferentiated endometrial sarcoma" EXACT [] xref: GARD:6339 xref: ICDO:8930/3 xref: MESH:D018203 xref: NCI:C8973 xref: SNOMEDCT_US_2023_03_01:1178986006 xref: UMLS_CUI:C0206630 is_a: DOID:5166 ! endometrial stromal tumor [Term] id: DOID:4227 name: uterine corpus endometrial stromal sarcoma alt_id: DOID:1374 def: "A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining." [url:https\://www.cancer.org/cancer/uterine-sarcoma/about/what-is-uterine-sarcoma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/21652246] subset: DO_cancer_slim subset: NCIthesaurus synonym: "uterine corpus endometrial stromal tumor" EXACT [] xref: NCI:C40219 xref: UMLS_CUI:C1519849 is_a: DOID:5165 ! uterine corpus sarcoma [Term] id: DOID:4228 name: obsolete stromal sarcoma synonym: "Stromal sarcoma" EXACT [] synonym: "Stromal sarcoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:423 name: myopathy def: "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." [url:http\://en.wikipedia.org/wiki/Myopathy] subset: DO_FlyBase_slim subset: NCIthesaurus xref: ICD10CM:G72.9 xref: ICD9CM:359.9 xref: MESH:D009135 xref: NCI:C101216 xref: SNOMEDCT_US_2023_03_01:155094005 xref: UMLS_CUI:C0026848 is_a: DOID:66 ! muscle tissue disease [Term] id: DOID:4230 name: smooth muscle cancer subset: NCIthesaurus synonym: "malignant tumor of Smooth Muscle" EXACT [] xref: NCI:C6511 xref: UMLS_CUI:C1334620 is_a: DOID:4045 ! muscle cancer [Term] id: DOID:4231 name: histiocytoma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8831/0 xref: MESH:D051642 xref: NCI:C35765 xref: SNOMEDCT_US_2023_03_01:154614002 xref: UMLS_CUI:C1509147 is_a: DOID:0060123 ! connective tissue benign neoplasm [Term] id: DOID:4232 name: extraosseous Ewing sarcoma def: "A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27293] subset: DO_rare_slim subset: NCIthesaurus synonym: "extraosseous Ewing's sarcoma" EXACT [] synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [] synonym: "extraskeletal Ewing sarcom" EXACT [] xref: NCI:C27293 xref: ORDO:370334 xref: UMLS_CUI:C1333514 is_a: DOID:3369 ! Ewing sarcoma [Term] id: DOID:4233 name: clear cell sarcoma alt_id: DOID:4881 def: "A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated." [url:http\://en.wikipedia.org/wiki/Clear-cell_sarcoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "adult soft part clear cell sarcoma" EXACT [] synonym: "Clear cell sarcoma of soft Parts" EXACT [] synonym: "malignant melanoma of soft parts" RELATED [] synonym: "malignant melanoma of soft tissues" EXACT [] synonym: "melanoma, malignant, of soft parts" EXACT [] xref: ICDO:9044/3 xref: MESH:D018227 xref: NCI:C27370 xref: NCI:C3745 xref: SNOMEDCT_US_2023_03_01:12622007 xref: UMLS_CUI:C0206651 xref: UMLS_CUI:C1332198 is_a: DOID:1115 ! sarcoma [Term] id: DOID:4235 name: spindle cell sarcoma def: "A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy." [url:http\://medical-dictionary.thefreedictionary.com/spindle+cell+sarcoma] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8801/3 xref: MESH:D012509 xref: NCI:C27005 xref: SNOMEDCT_US_2023_03_01:9801004 xref: UMLS_CUI:C0205945 is_a: DOID:1115 ! sarcoma [Term] id: DOID:4236 name: carcinosarcoma alt_id: DOID:1971 alt_id: DOID:2610 alt_id: DOID:4234 def: "A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components." [url:http\://en.wikipedia.org/wiki/Mixed_M%C3%BCllerian_tumor, url:http\://www.cancer.gov/Common/PopUps/popDefinition.aspx?id=44003&version=Patient&language=English, url:http\://www.cancer.gov/dictionary/?CdrID=44003] subset: DO_cancer_slim subset: NCIthesaurus synonym: "malignant mixed mesodermal (mullerian) tumor" EXACT [] synonym: "malignant mixed Mullerian tumor" EXACT [] synonym: "mesodermal mixed tumor" EXACT [] synonym: "mixed Mesodermal (mullerian) tumor" EXACT [] synonym: "MMMT" EXACT OMO:0003012 [] synonym: "mullerian mixed tumor" EXACT [] xref: ICDO:8980/3 xref: MESH:D002296 xref: MESH:D018199 xref: MESH:D018200 xref: NCI:C34448 xref: NCI:C3730 xref: NCI:C8975 xref: SNOMEDCT_US_2023_03_01:112684005 xref: SNOMEDCT_US_2023_03_01:63264007 xref: SNOMEDCT_US_2023_03_01:84427001 xref: UMLS_CUI:C0007140 xref: UMLS_CUI:C0206627 xref: UMLS_CUI:C1334603 is_a: DOID:154 ! mixed cell type cancer [Term] id: DOID:4238 name: obsolete malignant soft tissue neoplasm of central nervous system synonym: "malignant soft tissue tumor of CNS" EXACT [] is_obsolete: true [Term] id: DOID:4239 name: alveolar soft part sarcoma alt_id: DOID:5315 alt_id: DOID:5318 def: "A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." [url:http\://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5654 xref: ICDO:9581/3 xref: MESH:D018234 xref: MIM:606243 xref: NCI:C3750 xref: NCI:C7943 xref: NCI:C8092 xref: ORDO:163699 xref: SNOMEDCT_US_2023_03_01:88195001 xref: UMLS_CUI:C0206657 xref: UMLS_CUI:C0279544 xref: UMLS_CUI:C0279985 is_a: DOID:4043 ! skeletal muscle cancer [Term] id: DOID:424 name: pulmonary immaturity def: "A lung disease that is characterized by pulmonary collapse, accompanied by hypoventilation which can affect a lobe, segment, or all of the lung, resulting in a decrease in the ventilation/perfusion ratio." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846321/] synonym: "primary atelectasis of newborn" EXACT [] synonym: "primary atelectasis, in perinatal period" EXACT [] xref: ICD10CM:P28.0 xref: ICD9CM:770.4 xref: SNOMEDCT_US_2023_03_01:42908004 xref: UMLS_CUI:C0270163 is_a: DOID:850 ! lung disease [Term] id: DOID:4240 name: obsolete malignant miscellaneous mesenchymal tumor is_obsolete: true [Term] id: DOID:4242 name: kidney sarcoma def: "A kidney cancer that is located in the kidney's connective tissue." [url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_kidney_cancer_22.asp] subset: NCIthesaurus synonym: "renal sarcoma" EXACT [] synonym: "sarcoma of kidney" EXACT [] xref: NCI:C4525 xref: SNOMEDCT_US_2023_03_01:254918001 xref: UMLS_CUI:C0346251 is_a: DOID:263 ! kidney cancer [Term] id: DOID:4245 name: obsolete extraskeletal cartilaginous and osseous tumor is_obsolete: true [Term] id: DOID:4246 name: obsolete malignant mediastinal mesenchymal tumor synonym: "malignant soft tissue tumor of mediastinum" EXACT [] is_obsolete: true [Term] id: DOID:4247 name: coronary restenosis xref: MESH:D023903 xref: UMLS_CUI:C0948480 is_a: DOID:4248 ! coronary stenosis [Term] id: DOID:4248 name: coronary stenosis subset: NCIthesaurus synonym: "Coronary artery stenosis" EXACT [] xref: MESH:D023921 xref: NCI:C80427 xref: SNOMEDCT_US_2023_03_01:233970002 xref: UMLS_CUI:C0242231 is_a: DOID:3393 ! coronary artery disease [Term] id: DOID:4249 name: Gerstmann-Straussler-Scheinker syndrome def: "A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." [url:http\://en.wikipedia.org/wiki/Gerstmann-Str%C3%A4ussler-Scheinker_syndrome, url:http\://en.wikipedia.org/wiki/Gerstmann-straussler-scheinker_disease, url:http\://www.cdc.gov/ncidod/dvrd/prions/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Gerstmann-Straussler-Scheinker disease" EXACT [] synonym: "PRION DEMENTIA" EXACT [] xref: GARD:7690 xref: ICD10CM:A81.82 xref: ICD9CM:046.71 xref: MESH:D016098 xref: MIM:137440 xref: NCI:C84727 xref: SNOMEDCT_US_2023_03_01:67155006 xref: UMLS_CUI:C0017495 is_a: DOID:649 ! prion disease [Term] id: DOID:425 name: obsolete certain conditions originating in the perinatal period is_obsolete: true [Term] id: DOID:4250 name: conjunctivochalasis xref: ICD10CM:H11.82 xref: ICD9CM:372.81 xref: SNOMEDCT_US_2023_03_01:408663001 xref: UMLS_CUI:C0878693 is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:4251 name: conjunctival disease def: "An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27605] subset: NCIthesaurus xref: ICD10CM:H11.9 xref: ICD9CM:372.9 xref: MESH:D003229 xref: NCI:C27605 xref: SNOMEDCT_US_2023_03_01:194583004 xref: UMLS_CUI:C0009759 is_a: DOID:5614 ! eye disease [Term] id: DOID:4252 name: Alexander disease def: "A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes." [url:http\://en.wikipedia.org/wiki/Alexander_disease, url:http\://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm, url:http\://www.omim.org/entry/203450, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Alexander's disease" EXACT [] xref: GARD:5774 xref: MESH:D038261 xref: MIM:203450 xref: NCI:C84545 xref: SNOMEDCT_US_2023_03_01:81854007 xref: UMLS_CUI:C0270726 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10579 ! leukodystrophy property_value: exactMatch "MESH:D038261" xsd:string [Term] id: DOID:4253 name: melorheostosis def: "An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex." [url:http\://en.wikipedia.org/wiki/Melorheostosis, url:http\://www.melorheostosis.com/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:9474 xref: MESH:D008557 xref: MIM:155950 xref: NCI:C84887 xref: SNOMEDCT_US_2023_03_01:240173003 xref: UMLS_CUI:C0025239 is_a: DOID:4254 ! osteosclerosis property_value: exactMatch "MESH:D008557" xsd:string [Term] id: DOID:4254 name: osteosclerosis def: "A bone remodeling disease that results_in abnormal elevated bone density or mass." [url:http\://en.wikipedia.org/wiki/Osteosclerosis] subset: NCIthesaurus xref: ICD10CM:Q78.2 xref: MESH:D010026 xref: NCI:C41236 xref: SNOMEDCT_US_2023_03_01:49347007 xref: UMLS_CUI:C0029464 is_a: DOID:0080005 ! bone remodeling disease [Term] id: DOID:4256 name: obsolete rheumatism is_obsolete: true [Term] id: DOID:4257 name: Caffey disease def: "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability." [url:http\://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "cortical congenital hyperostosis" EXACT [] synonym: "infantile cortical hyperostosis" EXACT [] xref: GARD:1051 xref: ICD10CM:M89.8 xref: MESH:D006958 xref: MIM:114000 xref: NCI:C84645 xref: SNOMEDCT_US_2023_03_01:24752008 xref: UMLS_CUI:C0020497 is_a: DOID:3342 ! bone inflammation disease [Term] id: DOID:4258 name: Weissenbacher-Zweymuller syndrome def: "An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities." [url:http\://en.wikipedia.org/wiki/Weissenbacher-Zweym%C3%BCller_syndrome, url:http\://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=4351, url:http\://www.healthline.com/galecontent/weissenbacher-zweymuller-syndrome-1] subset: NCIthesaurus synonym: "Piere-Robin syndrome" EXACT [] synonym: "Pierre Robin Malformation" EXACT [] xref: ICD10CM:Q87.0 xref: MESH:D010855 xref: MIM:261800 xref: NCI:C85010 xref: SNOMEDCT_US_2023_03_01:156908005 xref: UMLS_CUI:C0031900 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:4260 name: gait apraxia xref: MESH:D020235 xref: SNOMEDCT_US_2023_03_01:30767006 xref: UMLS_CUI:C1510417 is_a: DOID:0060135 ! apraxia property_value: exactMatch "MESH:D020235" xsd:string [Term] id: DOID:4263 name: obsolete drug-induced akathisia synonym: "Drug-induced akathisia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4265 name: angiomyoma def: "A leiomyoma that is located_in the blood vessels." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202094/] subset: NCIthesaurus synonym: "vascular leiomyoma" EXACT [] xref: MESH:D018229 xref: NCI:C3747 xref: SNOMEDCT_US_2023_03_01:86959002 xref: UMLS_CUI:C0206653 is_a: DOID:178 ! vascular disease property_value: exactMatch "MESH:D018229" xsd:string [Term] id: DOID:4266 name: intravascular angioleiomyoma subset: NCIthesaurus xref: NCI:C5355 xref: UMLS_CUI:C1334267 is_a: DOID:4265 ! angiomyoma [Term] id: DOID:4267 name: akinetic mutism def: "A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness." [url:http\://en.wikipedia.org/wiki/Akinetic_mutism, url:https\://www.ncbi.nlm.nih.gov/pubmed/14642361] synonym: "Coma vigilans" EXACT [] xref: MESH:D000405 xref: SNOMEDCT_US_2023_03_01:53333005 xref: UMLS_CUI:C0001889 is_a: DOID:936 ! brain disease property_value: exactMatch "MESH:D000405" xsd:string [Term] id: DOID:4270 name: encephalitozoonosis def: "A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem." [url:https\://pubmed.ncbi.nlm.nih.gov/35202528/] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease synonym: "Infection by Encephalitozoon" EXACT [] xref: MESH:D016890 xref: SNOMEDCT_US_2023_03_01:12825006 xref: UMLS_CUI:C0085412 is_a: DOID:4271 ! microsporidiosis [Term] id: DOID:4271 name: microsporidiosis def: "An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Microsporidiosis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Infection by Microspora" EXACT [] synonym: "Infection by Microsporea" EXACT [] synonym: "Infection by Microsporida" EXACT [] xref: GARD:3655 xref: ICD10CM:B60.8 xref: MESH:D016881 xref: NCI:C84891 xref: SNOMEDCT_US_2023_03_01:61842000 xref: UMLS_CUI:C0085407 is_a: DOID:2473 ! opportunistic mycosis [Term] id: DOID:4273 name: obsolete bovine hemorrhagic syndrome def: "A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine viral diarrhea virus 2, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom low grade fever, has_symptom bloody diarrhea, and has_symptom bleeding in the eyes." [url:http\://www.vetmed.ucdavis.edu/vetext/INF-DA/INF-DA_BVDV.HTML] is_obsolete: true [Term] id: DOID:4274 name: obsolete Pestivirus infectious disease def: "A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder." [url:http\://en.wikipedia.org/wiki/Pestivirus] is_obsolete: true [Term] id: DOID:4277 name: penis basal cell carcinoma def: "A basal cell carcinoma that is located_in the penis." [url:https\://www.cancer.org/cancer/penile-cancer/about/what-is-penile-cancer.html] subset: NCIthesaurus synonym: "basal cell carcinoma of the penis" RELATED [] xref: NCI:C39961 xref: UMLS_CUI:C1518949 is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:3449 ! penis carcinoma [Term] id: DOID:4278 name: scrotum basal cell carcinoma subset: NCIthesaurus synonym: "Basal cell carcinoma of scrotum" EXACT [] synonym: "basal cell carcinoma of the scrotum" RELATED [] xref: NCI:C6386 xref: UMLS_CUI:C1335934 is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:3445 ! scrotal carcinoma [Term] id: DOID:4279 name: infundibulocystic basal cell carcinoma def: "A variant of basal cell carcinoma characterized by follicular differentiation." [url:https\://www.dermnetnz.org/topics/basal-cell-carcinoma-pathology/, url:https\://www.ncbi.nlm.nih.gov/pubmed/2235986] comment: Xref MGI. synonym: "skin infundibulocystic basal cell carcinoma" EXACT [] xref: MIM:604451 is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4280 name: nodular basal cell carcinoma alt_id: DOID:4296 def: "A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573444/] subset: NCIthesaurus synonym: "Basal cell carcinoma, nodular" EXACT [] synonym: "Circumscribed solid basal cell carcinoma" EXACT [] synonym: "skin nodulo-ulcerative basal cell carcinoma" EXACT [] synonym: "skin solid (nodular) Basal cell carcinoma" EXACT [] xref: NCI:C62282 xref: SNOMEDCT_US_2023_03_01:716274007 xref: UMLS_CUI:C1304300 is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4281 name: metatypical basal cell carcinoma def: "A basal cell carcinoma characterized by intermediate typology between basal cell carcinoma and squamous cell carcinoma." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2585560/] synonym: "Basosquamous carcinoma of skin" EXACT [] synonym: "skin metatypical basal cell carcinoma" EXACT [] synonym: "skin Metatypical carcinoma" EXACT [] is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4282 name: pigmented basal cell carcinoma def: "A basal cell carcinoma characterized by brown or black pigmentation." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919288/] synonym: "skin pigmented basal cell carcinoma" EXACT [] is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4283 name: anal margin basal cell carcinoma def: "A basal cell carcinoma that is located_in the anal margin." [url:https\://www.cancer.org/cancer/anal-cancer/about/what-is-anal-cancer.html] subset: NCIthesaurus synonym: "basal cell carcinoma of anal margin" RELATED [] synonym: "Basal cell carcinoma of Perianal skin" EXACT [] xref: ICD10CM:C44.510 xref: NCI:C7473 xref: UMLS_CUI:C1332269 is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4284 name: anal margin carcinoma def: "An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus)." [url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp] subset: NCIthesaurus synonym: "carcinoma of anal margin" RELATED [] synonym: "Perianal skin carcinoma" EXACT [] xref: NCI:C7472 xref: SNOMEDCT_US_2023_03_01:255084004 xref: UMLS_CUI:C0349534 is_a: DOID:4159 ! skin cancer is_a: DOID:4908 ! anal carcinoma [Term] id: DOID:4285 name: obsolete complications of pregnancy, childbirth and the puerperium is_obsolete: true [Term] id: DOID:4286 name: skin nasal cell carcinoma with sebaceous differentiation def: "A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin." [url:https\://journals.lww.com/prsgo/fulltext/2020/12000/basal_cell_carcinoma_with_sebaceous.50.aspx] subset: NCIthesaurus synonym: "sebaceous basal cell carcinoma" EXACT [] synonym: "skin basosebaceous basal cell carcinoma" EXACT [] xref: NCI:C4346 is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:4840 ! sebaceous carcinoma [Term] id: DOID:4287 name: external ear basal cell carcinoma subset: NCIthesaurus synonym: "basal cell carcinoma of external ear" RELATED [] synonym: "Basal cell carcinoma of the External ear" EXACT [] xref: NCI:C6082 xref: UMLS_CUI:C1333491 is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:4288 ! external ear carcinoma [Term] id: DOID:4288 name: external ear carcinoma def: "An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: NCIthesaurus synonym: "carcinoma of external ear" RELATED [] synonym: "carcinoma of the External ear" EXACT [] xref: NCI:C6081 xref: UMLS_CUI:C1333492 is_a: DOID:305 ! carcinoma is_a: DOID:5665 ! external ear cancer [Term] id: DOID:4289 name: micronodular basal cell carcinoma def: "A basal cell carcinoma characterized by solid tumor nodules." [url:https\://www.dermnetnz.org/topics/basal-cell-carcinoma-pathology/] synonym: "skin micronodular basal cell carcinoma" EXACT [] is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:429 name: gynatresia def: "A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina." [url:https\://fertilitypedia.org/edu/diagnoses/gynatresia, url:https\://www.ncbi.nlm.nih.gov/pubmed/22717415] subset: NCIthesaurus xref: MESH:D006175 xref: NCI:C84743 xref: UMLS_CUI:C0018414 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:4290 name: adamantinoid basal cell epithelioma subset: NCIthesaurus synonym: "Basal cell carcinoma - adamantinoid" EXACT [] synonym: "Melanotic adamantinoma of skin" EXACT [] synonym: "skin adamantinoid basal cell epithelioma" EXACT [] xref: NCI:C7585 xref: SNOMEDCT_US_2023_03_01:402524007 xref: UMLS_CUI:C1304295 is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4291 name: fibroepithelial basal cell carcinoma subset: NCIthesaurus synonym: "Fibroepithelioma of Pinkus" EXACT [] synonym: "Fibroepithelioma of Pinkus type" EXACT [] synonym: "Pinkus tumor" EXACT [] xref: NCI:C4109 xref: SNOMEDCT_US_2023_03_01:254703005 xref: UMLS_CUI:C0346013 is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4292 name: morpheaform basal cell carcinoma subset: NCIthesaurus synonym: "Basal cell carcinoma, morphea" EXACT [] synonym: "Cicatricial basal-cell carcinoma" EXACT [] synonym: "Morphea-type (Sclerosing) Basal cell carcinoma" EXACT [] xref: NCI:C27182 xref: SNOMEDCT_US_2023_03_01:403913006 xref: UMLS_CUI:C0555191 is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4293 name: clear cell basal cell carcinoma subset: NCIthesaurus synonym: "skin clear cell basal cell carcinoma" EXACT [] xref: NCI:C27536 xref: UMLS_CUI:C1516599 is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4294 name: adenoid basal cell carcinoma def: "A basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern." [url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC4840735/] subset: NCIthesaurus synonym: "skin adenoid basal cell carcinoma" EXACT [] xref: NCI:C27535 is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:8858 ! tonsil cancer [Term] id: DOID:4295 name: follicular basal cell carcinoma def: "A basal cell carcinoma that is characterized by follicular differentiation." [url:https\://link.springer.com/chapter/10.1007/978-3-319-45704-8_57] subset: NCIthesaurus synonym: "follicular (pilar) basal cell carcinoma" EXACT [] synonym: "Skin Follicular Basal Cell Carcinoma" EXACT [] xref: NCI:C27538 is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4297 name: scimitar syndrome def: "A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung." [url:https\://en.wikipedia.org/wiki/Scimitar_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/31536209] subset: DO_rare_slim subset: NCIthesaurus synonym: "congenital venolobar syndrome" EXACT [] synonym: "Halasz syndrome" EXACT [] synonym: "hypogenetic lung syndrome" EXACT [] synonym: "mirror-image lung syndrome" EXACT [] synonym: "pulmonary venolobar syndrome" EXACT [] synonym: "total anomalous pulmonary venous return" EXACT [] synonym: "vena cava bronchovascular syndrome" EXACT [] xref: ICD10CM:Q26.8 xref: MESH:D012587 xref: MIM:106700 xref: NCI:C85056 xref: ORDO:185 xref: SNOMEDCT_US_2023_03_01:39905002 xref: UMLS_CUI:C0036400 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:4298 name: obsolete respiratory system abnormality is_obsolete: true [Term] id: DOID:4299 name: infiltrative basal cell carcinoma def: "A basal cell carcinoma that is characterized by the formation of thin, small clusters in an infiltrative growth pattern." [url:https\://pubmed.ncbi.nlm.nih.gov/30710602/] synonym: "skin infiltrating basal cell carcinoma" EXACT [] is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4300 name: superficial basal cell carcinoma subset: NCIthesaurus synonym: "multicentric basal cell carcinoma" EXACT [] synonym: "Multifocal superficial basal cell carcinoma" EXACT [] synonym: "Superficial multicentric basal-cell carcinoma" EXACT [] xref: ICDO:8091/3 xref: NCI:C4108 xref: SNOMEDCT_US_2023_03_01:61098004 xref: UMLS_CUI:C0334256 is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4301 name: vulva basal cell carcinoma def: "A vulva carcinoma that has_material_basis_in basal cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22935972] subset: NCIthesaurus synonym: "basal cell carcinoma of the vulva" RELATED [] synonym: "Basal cell carcinoma of Vulva" EXACT [] xref: NCI:C6381 xref: SNOMEDCT_US_2023_03_01:717731002 xref: UMLS_CUI:C1336977 is_a: DOID:1294 ! vulva carcinoma is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4302 name: cystic basal cell carcinoma def: "A nodular basal cell carcinoma that is characterized by a homogenous blue/black area." [url:https\://www.hindawi.com/journals/jsc/2011/450472/] synonym: "skin cystic basal cell carcinoma" EXACT [] is_a: DOID:4280 ! nodular basal cell carcinoma [Term] id: DOID:4303 name: sarcomatoid basal cell carcinoma subset: NCIthesaurus synonym: "skin sarcomatoid basal cell carcinoma" EXACT [] xref: NCI:C38111 xref: UMLS_CUI:C1519182 is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4304 name: signet ring basal cell carcinoma subset: NCIthesaurus synonym: "skin signet ring cell basal cell carcinoma" EXACT [] xref: NCI:C38110 xref: UMLS_CUI:C1519320 is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4305 name: bone giant cell tumor def: "A benign giant cell tumor that results_in the presence of multinucleated giant cells." [url:http\://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone] subset: DO_cancer_slim subset: NCIthesaurus synonym: "bone giant cell tumour" EXACT [] synonym: "giant cell myeloma" RELATED [] synonym: "Giant cell neoplasm of bone" EXACT [] synonym: "Giant cell tumor of bone" EXACT [] synonym: "Giant cell tumour of bone" EXACT [] synonym: "osteoclastoma" RELATED [] xref: MESH:D018212 xref: NCI:C121932 xref: SNOMEDCT_US_2023_03_01:697970009 xref: UMLS_CUI:C0206638 is_a: DOID:200 ! benign giant cell tumor [Term] id: DOID:4306 name: radiculopathy def: "A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling." [url:https\://en.wikipedia.org/wiki/Radiculopathy, url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/radiculopathy] synonym: "pinched nerve" EXACT [] xref: ICD10CM:M54.1 xref: MESH:D011843 xref: SNOMEDCT_US_2023_03_01:394640000 xref: UMLS_CUI:C0700594 is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:4307 name: polyradiculopathy def: "A radiculopathy that is present in more than one nerve." [url:https\://en.wikipedia.org/wiki/Radiculopathy] subset: NCIthesaurus xref: MESH:D011128 xref: NCI:C34934 xref: SNOMEDCT_US_2023_03_01:75572007 xref: UMLS_CUI:C0032586 is_a: DOID:4306 ! radiculopathy [Term] id: DOID:4308 name: polyradiculoneuropathy def: "A peripheral nervous system disease that is characterized by the co-occurance of polyneuropahty and polyradicuopathy and is located in both the spinal nerve roots and the peripheral nerves." [url:https\://en.wikipedia.org/wiki/Polyradiculoneuropathy] xref: MESH:D011129 xref: SNOMEDCT_US_2023_03_01:128078004 xref: UMLS_CUI:C0032587 is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:431 name: myofascial pain syndrome xref: MESH:D009209 xref: UMLS_CUI:C0027073 is_a: DOID:423 ! myopathy [Term] id: DOID:4310 name: smooth muscle tumor subset: NCIthesaurus xref: MESH:D018235 xref: NCI:C3751 xref: SNOMEDCT_US_2023_03_01:75109009 xref: UMLS_CUI:C0206658 is_a: DOID:461 ! muscle benign neoplasm [Term] id: DOID:4313 name: epidermolysis bullosa acquisita def: "An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen." [url:https\://www.nejm.org/doi/full/10.1056/NEJMicm1204895] subset: NCIthesaurus synonym: "acquired epidermolysis bullosa" EXACT [] xref: ICD10CM:L12.3 xref: MESH:D016107 xref: NCI:C84690 xref: SNOMEDCT_US_2023_03_01:2772003 xref: UMLS_CUI:C0079293 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:2730 ! epidermolysis bullosa [Term] id: DOID:4318 name: obsolete visna def: "A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/maedi_visna.pdf] synonym: "Ovine encephalomyelitis" EXACT [] is_obsolete: true [Term] id: DOID:4320 name: non-gestational choriocarcinoma def: "A choriocarcicoma that develops in the absence of a preceding gestational event." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467297/] xref: MESH:D031954 xref: UMLS_CUI:C1135873 is_a: DOID:3594 ! choriocarcinoma [Term] id: DOID:4321 name: large cell acanthoma subset: NCIthesaurus xref: ICDO:8072/0 xref: NCI:C27518 xref: SNOMEDCT_US_2023_03_01:733894009 xref: UMLS_CUI:C1334362 is_a: DOID:174 ! acanthoma [Term] id: DOID:4322 name: pilar sheath acanthoma subset: NCIthesaurus xref: ICDO:8104/0 xref: MESH:D049309 xref: NCI:C4468 xref: SNOMEDCT_US_2023_03_01:254693008 xref: UMLS_CUI:C0346005 is_a: DOID:174 ! acanthoma [Term] id: DOID:4323 name: epidermolytic acanthoma subset: NCIthesaurus xref: NCI:C27516 xref: SNOMEDCT_US_2023_03_01:733892008 xref: UMLS_CUI:C1333414 is_a: DOID:174 ! acanthoma [Term] id: DOID:4324 name: acantholytic acanthoma subset: NCIthesaurus xref: NCI:C27517 xref: SNOMEDCT_US_2023_03_01:397188008 xref: UMLS_CUI:C1301270 is_a: DOID:174 ! acanthoma [Term] id: DOID:4325 name: Ebola hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/ebola/qa.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Ebola virus disease" EXACT [] xref: GARD:2035 xref: ICD10CM:A98.4 xref: MESH:D019142 xref: NCI:C36171 xref: SNOMEDCT_US_2023_03_01:123323003 xref: UMLS_CUI:C0282687 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:4326 name: obsolete Filoviridae infectious disease def: "A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses." [url:http\://en.wikipedia.org/wiki/Filoviridae] is_obsolete: true [Term] id: DOID:4327 name: Marburg hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthomarburgvirus marburgense, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/marburg/qa.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Marburg disease" EXACT [] synonym: "Marburg virus disease" EXACT [] xref: GARD:9444 xref: ICD10CM:A98.3 xref: MESH:D008379 xref: NCI:C84883 xref: SNOMEDCT_US_2023_03_01:123322008 xref: UMLS_CUI:C0024788 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:4329 name: Erdheim-Chester disease def: "A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs." [url:https\://medlineplus.gov/genetics/condition/erdheim-chester-disease/, url:https\://rarediseases.org/rare-diseases/erdheim-chester-disease/] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6369 xref: ICDO:9749/3 xref: MESH:D031249 xref: NCI:C53972 xref: SNOMEDCT_US_2023_03_01:703711007 xref: UMLS_CUI:C0878675 is_a: DOID:4330 ! non-Langerhans-cell histiocytosis [Term] id: DOID:433 name: obsolete Intraventricular hemorrhage from any perinatal cause is_obsolete: true [Term] id: DOID:4330 name: non-Langerhans-cell histiocytosis def: "A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells." [url:https\://pubmed.ncbi.nlm.nih.gov/15547923/] subset: DO_rare_slim xref: GARD:8231 xref: MESH:D015616 xref: SNOMEDCT_US_2023_03_01:127069007 xref: UMLS_CUI:C0019624 is_a: DOID:3405 ! histiocytosis [Term] id: DOID:4331 name: burning mouth syndrome def: "A mouth disease that is characterized by long-lasting burning sensations of the mouth." [url:https\://pubmed.ncbi.nlm.nih.gov/30189984/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Orodynia" EXACT [] synonym: "Stomatopyrosis" EXACT [] xref: GARD:5974 xref: MESH:D002054 xref: NCI:C62545 xref: SNOMEDCT_US_2023_03_01:111349000 xref: UMLS_CUI:C0006430 is_a: DOID:403 ! mouth disease [Term] id: DOID:4332 name: obsolete familial hypophosphatemia synonym: "familial hypophosphataemia" EXACT [] synonym: "Hypophosphatemia, familial" EXACT [] is_obsolete: true [Term] id: DOID:4333 name: parovarian cyst def: "A female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary." [url:https\://en.wikipedia.org/wiki/Paraovarian_cyst] synonym: "Cyst, fimbrial" EXACT [] synonym: "Embryonic fimbrial cyst" EXACT [] xref: ICD10CM:Q50.5 xref: MESH:D010310 xref: SNOMEDCT_US_2023_03_01:204831002 xref: UMLS_CUI:C0030584 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:4334 name: splenic manifestation of prolymphocytic leukemia subset: NCIthesaurus xref: NCI:C7297 xref: UMLS_CUI:C1336066 is_a: DOID:710 ! splenic manifestation of leukemia [Term] id: DOID:4336 name: tinea favosa alt_id: DOID:0050109 def: "A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885931/] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "favus" EXACT [] xref: ICD10CM:B35 xref: MESH:D014007 xref: NCI:C35072 xref: SNOMEDCT_US_2023_03_01:85375000 xref: UMLS_CUI:C0040254 is_a: DOID:4337 ! tinea capitis [Term] id: DOID:4337 name: tinea capitis alt_id: DOID:0050114 alt_id: DOID:12319 def: "A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000878.htm, url:https\://drfungus.org/knowledge-base/tinea-capitis/] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Dermatophytosis of scalp" RELATED [] synonym: "dermatophytosis of scalp or beard" EXACT [] synonym: "Scalp ringworm" EXACT [] synonym: "tinea capitis due to Trichophyton rubrum" EXACT [] synonym: "Trichophyton rubrum tinea capitis" EXACT [] xref: ICD9CM:110.0 xref: NCI:C34536 xref: SNOMEDCT_US_2023_03_01:186985002 xref: UMLS_CUI:C0011640 is_a: DOID:8913 ! dermatophytosis [Term] id: DOID:434 name: obsolete anterior mediastinum cancer is_obsolete: true [Term] id: DOID:4346 name: variegate porphyria subset: DO_rare_slim subset: NCIthesaurus synonym: "Protocoproporphyria" EXACT [] synonym: "Protoporphyrinogen oxidase deficiency" EXACT [] xref: GARD:7848 xref: MESH:D046350 xref: MIM:176200 xref: NCI:C85219 xref: SNOMEDCT_US_2023_03_01:58275005 xref: UMLS_CUI:C0162532 is_a: DOID:3133 ! acute porphyria [Term] id: DOID:4347 name: lymphocele subset: NCIthesaurus synonym: "Lymph cyst" EXACT [] xref: MESH:D008210 xref: NCI:C78442 xref: SNOMEDCT_US_2023_03_01:234109007 xref: UMLS_CUI:C0024248 is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:4349 name: obsolete complications occurring mainly in the course of labor and delivery alt_id: DOID:11084 alt_id: DOID:11085 synonym: "Rupture of uterus before onset of labor, antepartum" EXACT [] synonym: "Rupture of uterus before onset of labor, with delivery" EXACT [] is_obsolete: true [Term] id: DOID:435 name: obsolete malignant neoplasm of thymus, heart and mediastinum is_obsolete: true [Term] id: DOID:4350 name: obsolete bovine anaplasmosis subset: gram-negative_bacterial_infectious_disease subset: tick-borne_infectious_disease synonym: "Anaplasmosis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4351 name: obsolete primary Anaplasmataceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:4352 name: ciliary body cancer alt_id: DOID:6352 subset: NCIthesaurus synonym: "malignant neoplasm of ciliary body" EXACT [] synonym: "malignant tumor of ciliary body" EXACT [] synonym: "malignant tumor of the Ciliary body" EXACT [] synonym: "neoplasm of ciliary body" EXACT [] synonym: "tumor of the Ciliary body" EXACT [] xref: ICD10CM:C69.4 xref: NCI:C4364 xref: NCI:C4766 xref: SNOMEDCT_US_2023_03_01:126998003 xref: SNOMEDCT_US_2023_03_01:93756008 xref: UMLS_CUI:C0339349 xref: UMLS_CUI:C0496833 is_a: DOID:3478 ! iris cancer is_a: DOID:4353 ! ciliary body disease [Term] id: DOID:4353 name: ciliary body disease def: "An iris disease that is located_in the ciliary body." [url:https\://pubmed.ncbi.nlm.nih.gov/35695216/] subset: NCIthesaurus xref: NCI:C35775 xref: SNOMEDCT_US_2023_03_01:68575007 xref: UMLS_CUI:C0271100 is_a: DOID:240 ! iris disease [Term] id: DOID:4356 name: obsolete regressing malignant melanoma synonym: "malignant melanoma, regressing (morphologic abnormality)" EXACT [] synonym: "regressing malignant melanoma" EXACT [] synonym: "regressing melanoma" EXACT [] is_obsolete: true [Term] id: DOID:4357 name: obsolete experimental melanoma synonym: "Experimental malignant melanoma" EXACT [] is_obsolete: true [Term] id: DOID:4358 name: obsolete metastatic melanoma is_obsolete: true [Term] id: DOID:4359 name: amelanotic melanoma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8730/3 xref: MESH:D018328 xref: NCI:C3802 xref: SNOMEDCT_US_2023_03_01:70594002 xref: UMLS_CUI:C0206735 is_a: DOID:1909 ! melanoma [Term] id: DOID:436 name: posterior mediastinum cancer xref: ICD10CM:C38.2 xref: ICD9CM:164.3 xref: SNOMEDCT_US_2023_03_01:448670003 xref: UMLS_CUI:C0153502 is_a: DOID:5559 ! mediastinal cancer [Term] id: DOID:4360 name: epithelioid cell melanoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "epithelioid melanoma" EXACT [] xref: ICDO:8771/3 xref: NCI:C4236 xref: SNOMEDCT_US_2023_03_01:37138001 xref: UMLS_CUI:C0334443 is_a: DOID:1909 ! melanoma [Term] id: DOID:4362 name: cervical cancer alt_id: DOID:4361 def: "A female reproductive organ cancer that is located_in the cervix." [url:http\://cancergenome.nih.gov/cancersselected/cervicalcancer, url:http\://en.wikipedia.org/wiki/Cervical_cancer, url:http\://www.cancer.gov/dictionary?CdrID=444973] subset: DO_cancer_slim subset: DO_CFDE_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "cervical neoplasm" EXACT [] synonym: "cervix cancer" EXACT [] synonym: "cervix uteri cancer" EXACT [] synonym: "neoplasm of uterine cervix" EXACT [] synonym: "tumor of the Cervix Uteri" EXACT [] synonym: "uterine cervical neoplasm" EXACT [] xref: ICD10CM:C53 xref: ICD9CM:180 xref: MESH:D002583 xref: MIM:603956 xref: NCI:C2940 xref: NCI:C9311 xref: SNOMEDCT_US_2023_03_01:123841004 xref: SNOMEDCT_US_2023_03_01:254885005 xref: UMLS_CUI:C0007847 xref: UMLS_CUI:C0007873 is_a: DOID:2253 ! cervix disease is_a: DOID:363 ! uterine cancer [Term] id: DOID:4364 name: malignant breast melanoma def: "A breast cancer that arises_from melanocytes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15845569] subset: NCIthesaurus synonym: "breast melanoma" EXACT [] synonym: "malignant melanoma of breast" EXACT [] xref: NCI:C8410 xref: SNOMEDCT_US_2023_03_01:188050009 xref: UMLS_CUI:C0346787 is_a: DOID:1612 ! breast cancer [Term] id: DOID:4367 name: apparent mineralocorticoid excess syndrome alt_id: DOID:0090121 def: "A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16." [url:https\://www.omim.org/entry/218030] subset: DO_rare_slim subset: NCIthesaurus synonym: "11-beta-hydroxysteroid dehydrogenase deficiency type 2" EXACT [] synonym: "cortisol 11-beta-ketoreductase deficiency" EXACT [] synonym: "syndrome of apparent mineralocorticoid excess" EXACT [] synonym: "Ulick syndrome" EXACT [] xref: GARD:433 xref: MESH:D043204 xref: MIM:218030 xref: NCI:C123231 xref: ORDO:320 xref: SNOMEDCT_US_2023_03_01:237770005 xref: UMLS_CUI:C0342488 is_a: DOID:1701 ! steroid inherited metabolic disorder [Term] id: DOID:4369 name: obsolete brain hypoxia-Ischemia is_obsolete: true [Term] id: DOID:437 name: myasthenia gravis alt_id: DOID:443 alt_id: DOID:444 def: "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath." [url:https\://www.ninds.nih.gov/health-information/disorders/myasthenia-gravis] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7122 xref: ICD10CM:G70.0 xref: ICD10CM:G70.00 xref: ICD9CM:358.0 xref: ICD9CM:358.00 xref: MESH:D009157 xref: MIM:254200 xref: NCI:C60989 xref: SNOMEDCT_US_2023_03_01:155092009 xref: UMLS_CUI:C0026896 xref: UMLS_CUI:C1260409 is_a: DOID:438 ! autoimmune disease of the nervous system [Term] id: DOID:4370 name: stomach diverticulosis xref: MESH:D045724 xref: UMLS_CUI:C1148546 is_a: DOID:76 ! stomach disease [Term] id: DOID:4371 name: Schnitzler syndrome def: "A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy." [url:https\://rarediseases.org/rare-diseases/schnitzler-syndrome/, url:https\://www.nomidalliance.org/schnitzler.php] subset: DO_rare_slim xref: GARD:12390 xref: MESH:D019873 xref: SNOMEDCT_US_2023_03_01:402415001 xref: UMLS_CUI:C0524988 is_a: DOID:2916 ! hypersensitivity reaction type IV disease [Term] id: DOID:4372 name: intracranial embolism alt_id: DOID:1957 alt_id: DOID:1958 synonym: "cerebral embolism" EXACT [] synonym: "Cerebral embolism with cerebral infarction" EXACT [] xref: ICD10CM:I66 xref: ICD9CM:434.1 xref: MESH:D020766 xref: SNOMEDCT_US_2023_03_01:75543006 xref: UMLS_CUI:C0007780 xref: UMLS_CUI:C0752140 is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:4374 name: Silo filler's disease def: "A lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans." [url:https\://pubmed.ncbi.nlm.nih.gov/30879430/, url:https\://wiki.idph.iowa.gov/epimanual/Home/CategoryID/149] synonym: "silo filler disease" EXACT [] synonym: "Silo-fillers' disease" EXACT [] xref: MESH:D012832 xref: SNOMEDCT_US_2023_03_01:61233003 xref: UMLS_CUI:C0037120 is_a: DOID:850 ! lung disease [Term] id: DOID:4375 name: obsolete agricultural workers' disease is_obsolete: true [Term] id: DOID:4376 name: milk allergy def: "A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual." [url:http\://en.wikipedia.org/wiki/Milk_hypersensitivity] subset: DO_IEDB_slim synonym: "milk allergic reaction" EXACT [] xref: MESH:D016269 xref: UMLS_CUI:C0079840 is_a: DOID:3044 ! food allergy [Term] id: DOID:4377 name: egg allergy def: "A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms." [url:http\://en.wikipedia.org/wiki/Allergy#Foods] {comment="ls:IEDB"} subset: DO_IEDB_slim subset: NCIthesaurus synonym: "Allergy to eggs" EXACT [] xref: MESH:D021181 xref: NCI:C172313 xref: SNOMEDCT_US_2023_03_01:91930004 xref: UMLS_CUI:C0559469 is_a: DOID:3044 ! food allergy [Term] id: DOID:4378 name: peanut allergy def: "A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms." [url:http\://en.wikipedia.org/wiki/Allergy#Foods] {comment="ls:IEDB"} subset: DO_IEDB_slim synonym: "allergy to peanuts" EXACT [] synonym: "peanut allergic reaction" EXACT [] xref: MESH:D021183 xref: SNOMEDCT_US_2023_03_01:91935009 xref: UMLS_CUI:C0559470 is_a: DOID:0060904 ! legume allergy [Term] id: DOID:4379 name: nut allergy def: "A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis." [url:https\://en.wikipedia.org/wiki/Tree_nut_allergy] subset: DO_IEDB_slim subset: NCIthesaurus synonym: "allergy to nuts" EXACT [] synonym: "nut allergic reaction" EXACT [] xref: MESH:D021184 xref: NCI:C175521 xref: SNOMEDCT_US_2023_03_01:395654004 xref: UMLS_CUI:C0577620 is_a: DOID:3044 ! food allergy [Term] id: DOID:438 name: autoimmune disease of the nervous system def: "An autoimmune disease affecting the nervous system." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1003353/, url:https\://www.ncbi.nlm.nih.gov/pubmed/21619947] subset: NCIthesaurus synonym: "autoimmune nervous system disorder" RELATED [] xref: MESH:D020274 xref: NCI:C99383 xref: UMLS_CUI:C0751871 is_a: DOID:417 ! autoimmune disease is_a: DOID:863 ! nervous system disease [Term] id: DOID:4381 name: obsolete conventional alveolar rhabdomyosarcoma is_obsolete: true [Term] id: DOID:4383 name: obsolete solid alveolar rhabdomyosarcoma comment: OMIM mapping confirmed by DO. [SN]. is_obsolete: true [Term] id: DOID:4384 name: orbit alveolar rhabdomyosarcoma def: "An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form." [url:https\://pubmed.ncbi.nlm.nih.gov/31146616/] subset: NCIthesaurus synonym: "Alveolar Rhabdomyosarcoma of the orbit" EXACT [] xref: NCI:C6247 xref: UMLS_CUI:C1335126 is_a: DOID:3259 ! orbit rhabdomyosarcoma [Term] id: DOID:4385 name: papillary squamous carcinoma def: "A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation." [url:http\://www.sciencedirect.com/science/article/pii/S0090825803003299] subset: NCIthesaurus synonym: "papillary epidermoid carcinoma" EXACT [] xref: NCI:C4102 xref: SNOMEDCT_US_2023_03_01:39056008 xref: UMLS_CUI:C0334244 is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:4386 name: myofibroma subset: DO_cancer_slim synonym: "Lipoleiomyoma" EXACT [] xref: ICDO:8824/0 xref: MESH:D047708 xref: SNOMEDCT_US_2023_03_01:128917003 xref: UMLS_CUI:C1266121 is_a: DOID:0060123 ! connective tissue benign neoplasm [Term] id: DOID:4387 name: obsolete recurrent peripheral primitive neuroectodermal tumor is_obsolete: true [Term] id: DOID:4388 name: bone peripheral neuroepithelioma subset: NCIthesaurus synonym: "osseous peripheral Neuroepithelioma" EXACT [] xref: NCI:C8776 xref: UMLS_CUI:C0855009 is_a: DOID:3368 ! Ewing sarcoma of bone [Term] id: DOID:4389 name: soft tissue peripheral neuroepithelioma subset: NCIthesaurus synonym: "peripheral Neuroectodermal tumor of soft tissues" EXACT [] xref: NCI:C27471 xref: UMLS_CUI:C1112437 is_a: DOID:4232 ! extraosseous Ewing sarcoma [Term] id: DOID:439 name: neuromuscular junction disease def: "A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction." [url:http\://en.wikipedia.org/wiki/Neuromuscular_junction_disease] xref: MESH:D020511 xref: SNOMEDCT_US_2023_03_01:128213006 xref: UMLS_CUI:C0751950 is_a: DOID:440 ! neuromuscular disease [Term] id: DOID:4393 name: obsolete Henipavirus infectious disease def: "A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal." [url:http\://en.wikipedia.org/wiki/Henipavirus, url:http\://www.expasy.org/viralzone/all_by_species/85.html] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:4394 name: reticulohistiocytic granuloma subset: DO_rare_slim subset: NCIthesaurus synonym: "Reticulohistiocytoma" EXACT [] synonym: "solitary reticulohistiocytoma" EXACT [] xref: GARD:12967 xref: MESH:D015616 xref: NCI:C3356 xref: SNOMEDCT_US_2023_03_01:15960008 xref: UMLS_CUI:C0035290 is_a: DOID:3405 ! histiocytosis [Term] id: DOID:4397 name: granulomatous dermatitis subset: NCIthesaurus xref: NCI:C3505 xref: UMLS_CUI:C0743086 is_a: DOID:2723 ! dermatitis [Term] id: DOID:4398 name: pustulosis of palm and sole subset: NCIthesaurus synonym: "Acropustulosis" EXACT [] synonym: "Palmoplantar Pustulosis" EXACT [] synonym: "Pustular psoriasis of the palms and/or soles" EXACT [] xref: ICD10CM:L40.3 xref: MESH:D011565 xref: NCI:C34888 xref: SNOMEDCT_US_2023_03_01:238610005 xref: UMLS_CUI:C0030246 is_a: DOID:2723 ! dermatitis [Term] id: DOID:4399 name: acneiform dermatitis subset: NCIthesaurus xref: NCI:C35277 xref: UMLS_CUI:C0234894 is_a: DOID:2723 ! dermatitis [Term] id: DOID:440 name: neuromuscular disease def: "A neuropathy that affect the nerves that control the voluntary muscles." [url:http\://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html] subset: NCIthesaurus xref: ICD10CM:G70.9 xref: ICD9CM:358 xref: MESH:D009468 xref: NCI:C189005 xref: SNOMEDCT_US_2023_03_01:1664005 xref: UMLS_CUI:C0027868 is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:870 ! neuropathy [Term] id: DOID:4400 name: dermatosis papulosa nigra comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus xref: ICD10CM:L82 xref: MESH:C562379 xref: MIM:125600 xref: NCI:C2984 xref: SNOMEDCT_US_2023_03_01:254669003 xref: UMLS_CUI:C0011645 is_a: DOID:2723 ! dermatitis [Term] id: DOID:4403 name: obsolete cervical glandular tumor is_obsolete: true [Term] id: DOID:4404 name: occupational dermatitis subset: NCIthesaurus synonym: "Occupational allergic contact dermatitis" EXACT [] synonym: "Occupational eczema" EXACT [] xref: MESH:D009783 xref: NCI:C34859 xref: SNOMEDCT_US_2023_03_01:200780008 xref: UMLS_CUI:C0028796 is_a: DOID:2773 ! contact dermatitis [Term] id: DOID:4406 name: spongiotic dermatitis subset: NCIthesaurus xref: NCI:C27037 xref: SNOMEDCT_US_2023_03_01:23615008 xref: UMLS_CUI:C0262984 is_a: DOID:2723 ! dermatitis [Term] id: DOID:4407 name: phototoxic dermatitis def: "An irritant dermatitis that is caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight." [url:https\://dermnetnz.org/cme/dermatitis/photosensitivity-dermatitis] subset: NCIthesaurus synonym: "Photosensitisation reaction" EXACT [] synonym: "Photosensitive Dermatitis" EXACT [] synonym: "Photosensitiveness" EXACT [] xref: MESH:D017484 xref: NCI:C4816 xref: SNOMEDCT_US_2023_03_01:53597009 xref: UMLS_CUI:C0162830 is_a: DOID:2772 ! irritant dermatitis [Term] id: DOID:4409 name: folliculitis subset: NCIthesaurus xref: MESH:D005499 xref: NCI:C94408 xref: SNOMEDCT_US_2023_03_01:156411003 xref: UMLS_CUI:C0016436 is_a: DOID:2723 ! dermatitis is_a: DOID:421 ! hair disease [Term] id: DOID:4410 name: obsolete contact dermatitis due to arnica synonym: "Allergic Dermatitis due to Arnica" EXACT [] synonym: "Contact dermatitis due to arnica (disorder)" EXACT [] synonym: "Dermatitis due to arnica" EXACT [] is_obsolete: true [Term] id: DOID:4411 name: hepatitis E alt_id: DOID:12431 def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice." [url:http\://www.cdc.gov/hepatitis/HEV/HEVfaq.htm#section1] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: zoonotic_infectious_disease xref: GARD:9541 xref: MESH:D016751 xref: SNOMEDCT_US_2023_03_01:7111000119109 xref: UMLS_CUI:C0085293 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:4412 name: obsolete Astroviridae infectious disease def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses." [url:http\://en.wikipedia.org/wiki/Astroviridae] is_obsolete: true [Term] id: DOID:4413 name: cervix melanoma def: "A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25046205] subset: NCIthesaurus xref: NCI:C40239 xref: UMLS_CUI:C0877611 is_a: DOID:4362 ! cervical cancer [Term] id: DOID:4415 name: fibrous histiocytoma subset: NCIthesaurus synonym: "benign fibrous histiocytoma" EXACT [] synonym: "Fibroxanthoma" EXACT [] xref: MESH:D018219 xref: NCI:C3739 xref: SNOMEDCT_US_2023_03_01:25889007 xref: UMLS_CUI:C0206644 is_a: DOID:4231 ! histiocytoma [Term] id: DOID:4418 name: cutaneous fibrous histiocytoma alt_id: DOID:4417 subset: DO_rare_slim subset: NCIthesaurus synonym: "benign Cutaneous fibrous Histiocytoma" EXACT [] synonym: "dermatofibroma" EXACT [] synonym: "fibrohistiocytic tumor" EXACT [] synonym: "fibrous histiocytoma of skin" EXACT [] synonym: "fibrous xanthoma of skin" EXACT [] synonym: "Pleomorphic fibroma" EXACT [] synonym: "Sclerosing angioma" EXACT [] synonym: "Sclerosing angioma of skin" EXACT [] xref: GARD:9807 xref: MESH:D018219 xref: NCI:C6801 xref: NCI:C7749 xref: SNOMEDCT_US_2023_03_01:254749001 xref: SNOMEDCT_US_2023_03_01:403999006 xref: UMLS_CUI:C0002991 xref: UMLS_CUI:C0346049 is_a: DOID:3165 ! skin benign neoplasm is_a: DOID:4415 ! fibrous histiocytoma [Term] id: DOID:4419 name: benign deep fibrous histiocytoma subset: NCIthesaurus xref: NCI:C6492 xref: SNOMEDCT_US_2023_03_01:128741006 xref: UMLS_CUI:C1266125 is_a: DOID:0060092 ! immune system organ benign neoplasm [Term] id: DOID:4422 name: malignant adenofibroma subset: NCIthesaurus xref: NCI:C40035 xref: UMLS_CUI:C1510778 is_a: DOID:4236 ! carcinosarcoma [Term] id: DOID:4423 name: sea-blue histiocytosis def: "A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids." [url:https\://en.wikipedia.org/wiki/Sea-blue_histiocytosis, url:https\://rarediseases.info.nih.gov/diseases/8241/sea-blue-histiocytosis] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Sea-blue histiocyte syndrome" EXACT [] xref: MESH:D012618 xref: MIM:269600 xref: NCI:C85062 xref: SNOMEDCT_US_2023_03_01:37821003 xref: UMLS_CUI:C0036489 is_a: DOID:1927 ! sphingolipidosis [Term] id: DOID:4424 name: juvenile xanthogranuloma def: "A non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color. These bumps usually appear on the head, neck and trunk." [url:https\://www.nationwidechildrens.org/conditions/juvenile-xanthogranuloma, url:https\://www.ncbi.nlm.nih.gov/books/NBK526103/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Multiple eruptive juvenile xanthogranuloma" EXACT [] synonym: "Naevoxanthoendothelioma" EXACT [] synonym: "Xanthoma neviforme" EXACT [] xref: ICDO:9749/1 xref: MESH:D014972 xref: NCI:C3451 xref: SNOMEDCT_US_2023_03_01:71709009 xref: UMLS_CUI:C0043324 is_a: DOID:4330 ! non-Langerhans-cell histiocytosis [Term] id: DOID:4425 name: obsolete lipogranuloma synonym: "Lipogranuloma (disorder)" EXACT [] synonym: "Lipogranuloma (morphologic abnormality)" EXACT [] synonym: "lipogranulomatosis" EXACT [] synonym: "Oil granuloma (disorder)" EXACT [] synonym: "Xanthogranuloma" EXACT [] synonym: "Xanthogranuloma (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4428 name: dyslexia def: "A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability." [url:http\://en.wikipedia.org/wiki/Dyslexia] comment: Xref MGI. subset: NCIthesaurus xref: ICD10CM:F81.0 xref: MESH:D004410 xref: MIM:300509 xref: MIM:600202 xref: MIM:604254 xref: MIM:606616 xref: MIM:606896 xref: MIM:608995 xref: NCI:C96410 xref: SNOMEDCT_US_2023_03_01:154954003 xref: UMLS_CUI:C0476254 is_a: DOID:13365 ! reading disorder [Term] id: DOID:4430 name: somatostatinoma subset: DO_rare_slim subset: NCIthesaurus synonym: "Somatostatin cell neoplasm" EXACT [] synonym: "Somatostatin cell tumour" EXACT [] xref: GARD:4900 xref: ICDO:8156/3 xref: MESH:D013005 xref: NCI:C3379 xref: SNOMEDCT_US_2023_03_01:128642005 xref: UMLS_CUI:C0037661 is_a: DOID:169 ! neuroendocrine tumor [Term] id: DOID:4432 name: pancreatic somatostatinoma subset: NCIthesaurus synonym: "pancreatic delta cell somatostatin producing neoplasm" EXACT [] synonym: "pancreatic Somatostatin cell tumor" EXACT [] xref: NCI:C95595 xref: UMLS_CUI:C1368041 is_a: DOID:1799 ! islet cell tumor [Term] id: DOID:4433 name: pancreatic delta cell neoplasm subset: NCIthesaurus synonym: "pancreatic Delta cell tumor" EXACT [] xref: NCI:C28396 xref: UMLS_CUI:C1335301 is_a: DOID:1799 ! islet cell tumor [Term] id: DOID:4434 name: small intestine neuroendocrine neoplasm subset: NCIthesaurus synonym: "small Intestine neuroendocrine tumor" EXACT [] xref: NCI:C5803 xref: SNOMEDCT_US_2023_03_01:1186805005 xref: UMLS_CUI:C1336005 is_a: DOID:7505 ! small intestine benign neoplasm [Term] id: DOID:4435 name: cavernous sinus meningioma subset: NCIthesaurus synonym: "meningioma of the Cavernous sinus" EXACT [] xref: NCI:C5268 xref: UMLS_CUI:C1332865 is_a: DOID:3565 ! meningioma is_a: DOID:3842 ! skull base cancer [Term] id: DOID:4436 name: anterior cranial fossa meningioma subset: NCIthesaurus synonym: "meningioma of the Anterior Fossa" EXACT [] xref: NCI:C5286 xref: UMLS_CUI:C1332301 is_a: DOID:3565 ! meningioma [Term] id: DOID:4437 name: skull base meningioma subset: NCIthesaurus synonym: "meningioma of the Skull Base" EXACT [] xref: NCI:C5272 xref: UMLS_CUI:C1335976 is_a: DOID:3842 ! skull base cancer [Term] id: DOID:4438 name: central nervous system germinoma subset: DO_rare_slim subset: NCIthesaurus synonym: "germinoma of CNS" EXACT [] xref: GARD:2005 xref: NCI:C7009 xref: SNOMEDCT_US_2023_03_01:1156833003 xref: UMLS_CUI:C1333813 is_a: DOID:4439 ! central nervous system germ cell tumor [Term] id: DOID:4439 name: central nervous system germ cell tumor def: "A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25233069] subset: NCIthesaurus synonym: "central nervous system germ cell tumour" EXACT [] synonym: "germ cell tumor of the CNS" EXACT [] synonym: "germ cell tumour of the CNS" EXACT [] xref: NCI:C5461 xref: UMLS_CUI:C1332880 is_a: DOID:2994 ! germ cell cancer is_a: DOID:3620 ! central nervous system cancer [Term] id: DOID:4440 name: seminoma def: "A germinoma that has_material_basis_in cells that make sperm and eggs." [url:http\://www.cancer.gov/dictionary?CdrID=46577] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_cancer_slim subset: NCIthesaurus synonym: "Seminoma, Pure" EXACT [] xref: ICDO:9061/3 xref: MESH:D018239 xref: NCI:C9309 xref: SNOMEDCT_US_2023_03_01:443675005 xref: UMLS_CUI:C0036631 is_a: DOID:2994 ! germ cell cancer [Term] id: DOID:4441 name: dysgerminoma def: "A germ cell cancer that derives_from cells that give rise to egg cells." [url:http\://en.wikipedia.org/wiki/Dysgerminoma, url:http\://www.cancer.gov/dictionary?CdrID=672835] subset: DO_cancer_slim xref: ICDO:9060/3 xref: MESH:D004407 xref: SNOMEDCT_US_2023_03_01:60718004 xref: UMLS_CUI:C0013377 is_a: DOID:2394 ! ovarian cancer is_a: DOID:2994 ! germ cell cancer [Term] id: DOID:4442 name: cervical alveolar soft part sarcoma def: "An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2479947] subset: NCIthesaurus xref: NCI:C40225 xref: UMLS_CUI:C1516408 is_a: DOID:4362 ! cervical cancer [Term] id: DOID:4443 name: obsolete cervical soft tissue tumor is_obsolete: true [Term] id: DOID:4445 name: obsolete arachnoid cyst synonym: "Arachnoid cyst" EXACT [] synonym: "Arachnoid cyst (disorder)" EXACT [] synonym: "Leptomeningeal Cyst" EXACT [] is_obsolete: true [Term] id: DOID:4446 name: obsolete central nervous system cyst synonym: "Cyst of central nervous system (disorder)" EXACT [] synonym: "Cyst of the CNS" EXACT [] is_obsolete: true [Term] id: DOID:4447 name: cystoid macular edema comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus xref: MESH:D008269 xref: MIM:153880 xref: NCI:C34794 xref: SNOMEDCT_US_2023_03_01:193387007 xref: UMLS_CUI:C0024440 is_a: DOID:4449 ! macular retinal edema [Term] id: DOID:4448 name: macular degeneration def: "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss." [url:http\://ghr.nlm.nih.gov/condition/age-related-macular-degeneration, url:http\://rarediseases.info.nih.gov/gard/10260/macular-degeneration/resources/1] comment: Xref MGI. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Macular degeneration of retina" EXACT [] xref: MESH:D008268 xref: NCI:C123330 xref: ORDO:279 xref: SNOMEDCT_US_2023_03_01:302891003 xref: UMLS_CUI:C0024437 is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:4449 name: macular retinal edema subset: NCIthesaurus synonym: "macular edema" EXACT [] synonym: "macular oedema" EXACT [] synonym: "macular retinal oedema" EXACT [] xref: MESH:D008269 xref: NCI:C35468 xref: SNOMEDCT_US_2023_03_01:37231002 xref: UMLS_CUI:C0271051 is_a: DOID:6929 ! retinal edema [Term] id: DOID:445 name: Bartter disease subset: DO_rare_slim subset: NCIthesaurus synonym: "Aldosteronism with hyperplasia of the adrenal cortex" EXACT [] synonym: "Bartter's syndrome" EXACT [] xref: GARD:5893 xref: ICD10CM:E26.81 xref: ICD9CM:255.13 xref: MESH:D001477 xref: MIM:PS601678 xref: NCI:C34412 xref: SNOMEDCT_US_2023_03_01:707742001 xref: UMLS_CUI:C0004775 is_a: DOID:0050177 ! monogenic disease is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:4450 name: renal cell carcinoma def: "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney." [url:http\://en.wikipedia.org/wiki/Renal_cell_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=661352] comment: Xref MGI. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "adenocarcinoma of kidney" EXACT [] synonym: "hypernephroma" EXACT [] synonym: "RCC" EXACT OMO:0003012 [] xref: EFO:0000681 xref: GARD:13215 xref: ICDO:8312/3 xref: MESH:D002292 xref: MIM:300854 xref: NCI:C9385 xref: ORDO:217071 xref: SNOMEDCT_US_2023_03_01:254915003 xref: UMLS_CUI:C0007134 is_a: DOID:4451 ! renal carcinoma [Term] id: DOID:4451 name: renal carcinoma def: "A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products)." [url:http\://en.wikipedia.org/wiki/Renal_cell_carcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "carcinoma of kidney" EXACT [] synonym: "kidney carcinoma" EXACT [] xref: NCI:C9384 xref: SNOMEDCT_US_2023_03_01:254915003 xref: UMLS_CUI:C1378703 is_a: DOID:263 ! kidney cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:4452 name: obsolete recurrent renal cell carcinoma synonym: "Relapsed Renal cell carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:4454 name: childhood kidney cell carcinoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric renal cell carcinoma" EXACT [] xref: NCI:C6568 xref: UMLS_CUI:C1333001 is_a: DOID:4450 ! renal cell carcinoma [Term] id: DOID:4455 name: hereditary renal cell carcinoma subset: DO_cancer_slim subset: DO_rare_slim xref: GARD:9571 is_a: DOID:4450 ! renal cell carcinoma [Term] id: DOID:446 name: primary hyperaldosteronism alt_id: DOID:12252 def: "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands." [url:https\://en.wikipedia.org/wiki/Primary_aldosteronism, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34510] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "Cushing syndrome" EXACT [] synonym: "Cushing's syndrome" EXACT [] synonym: "hyperaldosteronism" EXACT [] xref: ICD10CM:E24 xref: ICD10CM:E26 xref: ICD9CM:255.0 xref: ICD9CM:255.1 xref: MESH:D003480 xref: MESH:D006929 xref: MIM:605635 xref: MIM:613677 xref: NCI:C113213 xref: NCI:C2969 xref: ORDO:235936 xref: SNOMEDCT_US_2023_03_01:154705004 xref: SNOMEDCT_US_2023_03_01:88213004 xref: UMLS_CUI:C0010481 xref: UMLS_CUI:C0020428 is_a: DOID:3947 ! adrenal gland hyperfunction [Term] id: DOID:4463 name: multilocular clear cell renal cell carcinoma subset: NCIthesaurus synonym: "cystadenocarcinoma of kidney" EXACT [] synonym: "renal cystadenocarcinoma" EXACT [] xref: NCI:C4524 xref: SNOMEDCT_US_2023_03_01:254916002 xref: UMLS_CUI:C0346249 is_a: DOID:4450 ! renal cell carcinoma [Term] id: DOID:4464 name: collecting duct carcinoma def: "A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material." [url:https\://en.wikipedia.org/wiki/Collecting_duct_carcinoma, url:https\://rarediseases.info.nih.gov/diseases/9573/collecting-duct-carcinoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/26684811] subset: DO_rare_slim subset: NCIthesaurus synonym: "carcinoma of renal Collecting duct" EXACT [] synonym: "renal carcinoma, collecting duct type" EXACT [] synonym: "renal Medullary carcinoma" EXACT [] xref: GARD:9573 xref: ICDO:8319/3 xref: MESH:D002292 xref: NCI:C6194 xref: SNOMEDCT_US_2023_03_01:733470002 xref: UMLS_CUI:C1266044 is_a: DOID:4450 ! renal cell carcinoma [Term] id: DOID:4465 name: papillary renal cell carcinoma alt_id: DOID:8063 def: "A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors." [url:http\://cancergenome.nih.gov/cancersselected/kidneypapillary, url:http\://www.omim.org/entry/605074] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Chromophil carcinoma of kidney" EXACT [] synonym: "papillary kidney carcinoma" EXACT [] synonym: "sporadic papillary renal cell carcinoma" EXACT [] xref: GARD:9572 xref: MESH:C538614 xref: MESH:D002292 xref: MIM:605074 xref: NCI:C27890 xref: NCI:C6975 xref: SNOMEDCT_US_2023_03_01:4797003 xref: UMLS_CUI:C1306837 xref: UMLS_CUI:C1336078 is_a: DOID:4450 ! renal cell carcinoma [Term] id: DOID:4467 name: clear cell renal cell carcinoma def: "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope." [url:http\://www.cancer.gov/dictionary?CdrID=45063, url:https\://cancergenome.nih.gov/cancersselected/kidneyclearcell] comment: MESH:C538445 added from NeuroDevNet [WAK]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Clear cell carcinoma of kidney" EXACT [] synonym: "clear cell kidney carcinoma" EXACT [] synonym: "Clear-cell metastatic renal cell carcinoma" RELATED [MESH:C538445] synonym: "conventional (Clear cell) renal cell carcinoma" EXACT [] synonym: "conventional renal cell carcinoma" EXACT [] synonym: "renal clear cell carcinoma" EXACT [] xref: GARD:9574 xref: MESH:D002292 xref: NCI:C4033 xref: SNOMEDCT_US_2023_03_01:254915003 xref: UMLS_CUI:C0279702 is_a: DOID:4450 ! renal cell carcinoma [Term] id: DOID:4468 name: clear cell adenocarcinoma alt_id: DOID:2617 alt_id: DOID:4940 def: "An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/clear-cell-adenocarcinoma] subset: NCIthesaurus synonym: "malignant Mesonephroma" EXACT [] synonym: "Mesonephroid Clear cell carcinoma" EXACT [] synonym: "mesonephroma" EXACT [] synonym: "Mesonephroma, malignant" EXACT [] synonym: "Water-clear cell adenocarcinoma" EXACT [] synonym: "Water-clear cell carcinoma" EXACT [] synonym: "Wolffian duct neoplasm" EXACT [] xref: ICDO:8310/3 xref: MESH:D008649 xref: MESH:D018262 xref: NCI:C36815 xref: NCI:C4072 xref: NCI:C4156 xref: SNOMEDCT_US_2023_03_01:2221008 xref: SNOMEDCT_US_2023_03_01:30546008 xref: SNOMEDCT_US_2023_03_01:80727009 xref: UMLS_CUI:C0025490 xref: UMLS_CUI:C0206681 xref: UMLS_CUI:C0334322 is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:447 name: renal tubular transport disease synonym: "inborn renal tubular transport disorder" EXACT [] xref: MESH:D015499 xref: UMLS_CUI:C0035091 is_a: DOID:557 ! kidney disease [Term] id: DOID:4471 name: chromophobe renal cell carcinoma def: "A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells." [url:http\://www.cancer.org/acs/groups/cid/documents/webcontent/003107-pdf.pdf, url:https\://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "chromophobe adenocarcinoma" EXACT [] synonym: "Chromophobe carcinoma of kidney" EXACT [] synonym: "kidney chromophobe" EXACT [] synonym: "renal cell carcinoma, chromophobe cell" EXACT [] xref: GARD:6064 xref: MESH:D002292 xref: NCI:C4146 xref: SNOMEDCT_US_2023_03_01:128667008 xref: UMLS_CUI:C1266042 is_a: DOID:4450 ! renal cell carcinoma [Term] id: DOID:4472 name: mucinous tubular and spindle renal cell carcinoma subset: NCIthesaurus xref: NCI:C39807 xref: UMLS_CUI:C1513719 is_a: DOID:4450 ! renal cell carcinoma [Term] id: DOID:4473 name: sarcomatoid renal cell carcinoma subset: NCIthesaurus synonym: "renal cell carcinoma, spindle cell" EXACT [] xref: MESH:D002292 xref: NCI:C27893 xref: SNOMEDCT_US_2023_03_01:128668003 xref: UMLS_CUI:C1266043 is_a: DOID:4450 ! renal cell carcinoma [Term] id: DOID:4478 name: obsolete drug-Induced dyskinesia synonym: "Drug-induced dyskinesia" EXACT [] synonym: "Drug-induced dyskinesia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4479 name: pseudohypoaldosteronism subset: DO_FlyBase_slim subset: NCIthesaurus xref: MESH:D011546 xref: NCI:C85034 xref: SNOMEDCT_US_2023_03_01:77098009 xref: UMLS_CUI:C0033805 is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:448 name: obsolete facial neoplasm synonym: "face neoplasm" EXACT [] synonym: "neoplasm of face (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4480 name: achondroplasia def: "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." [url:http\://en.wikipedia.org/wiki/Achondroplasia, url:http\://ghr.nlm.nih.gov/condition/achondroplasia, url:http\://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION%3Dsymptoms, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001577.htm, url:https\://www.genome.gov/Genetic-Disorders/Achondroplasia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Achondroplastic physique" EXACT [] synonym: "Chondrodystrophia" EXACT [] synonym: "osteosclerosis congenita" EXACT [] xref: GARD:8173 xref: ICD10CM:Q77.4 xref: MESH:D000130 xref: MIM:100800 xref: NCI:C34345 xref: SNOMEDCT_US_2023_03_01:268273004 xref: UMLS_CUI:C0001080 is_a: DOID:2256 ! osteochondrodysplasia property_value: exactMatch "MESH:D000130" xsd:string [Term] id: DOID:4481 name: allergic rhinitis alt_id: DOID:12089 alt_id: DOID:14030 alt_id: DOID:8241 alt_id: DOID:8242 def: "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites." [url:http\://en.wikipedia.org/wiki/Allergic_rhinitis, url:http\://en.wikipedia.org/wiki/Rhinitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=allergic%20rhinitis] {comment="ls:IEDB"} subset: NCIthesaurus synonym: "atopic rhinitis" EXACT [] synonym: "hay fever" EXACT [] synonym: "Non-seasonal allergic rhinitis" EXACT [] synonym: "Perenial allergic rhinitis" EXACT [] synonym: "pollenosis" EXACT [] synonym: "seasonal allergic rhinitis" EXACT [] xref: EFO:0003956 xref: MIM:607154 xref: NCI:C34987 xref: SNOMEDCT_US_2023_03_01:38103000 xref: UMLS_CUI:C0002103 is_a: DOID:0060496 ! respiratory allergy is_a: DOID:4483 ! rhinitis property_value: exactMatch "MESH:D065631" xsd:string [Term] id: DOID:4483 name: rhinitis def: "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip." [url:http\://en.wikipedia.org/wiki/Rhinitis] subset: NCIthesaurus xref: MESH:D012220 xref: NCI:C34986 xref: SNOMEDCT_US_2023_03_01:70076002 xref: UMLS_CUI:C0035455 is_a: DOID:2163 ! nasal cavity disease [Term] id: DOID:4486 name: malignant biphasic mesothelioma subset: NCIthesaurus synonym: "Mesothelioma, biphasic, malignant" EXACT [] synonym: "mixed Mesothelioma" EXACT [] xref: NCI:C4282 xref: SNOMEDCT_US_2023_03_01:30383009 xref: UMLS_CUI:C0334515 is_a: DOID:1790 ! malignant mesothelioma [Term] id: DOID:4488 name: sarcomatoid mesothelioma subset: NCIthesaurus synonym: "malignant fibrous mesothelioma" EXACT [] synonym: "spindled mesothelioma" EXACT [] xref: NCI:C45655 xref: SNOMEDCT_US_2023_03_01:54443001 xref: UMLS_CUI:C0334513 is_a: DOID:1790 ! malignant mesothelioma [Term] id: DOID:4489 name: malignant epithelial mesothelioma subset: NCIthesaurus xref: NCI:C7985 xref: SNOMEDCT_US_2023_03_01:65278006 xref: UMLS_CUI:C0862312 is_a: DOID:1790 ! malignant mesothelioma [Term] id: DOID:449 name: obsolete head neoplasm synonym: "head neoplasm" EXACT [] synonym: "neoplasm of head (disorder)" EXACT [] synonym: "neoplasm of the head" EXACT [] is_obsolete: true [Term] id: DOID:4490 name: malignant peritoneal solitary fibrous tumor def: "A peritoneum cancer that is characterized by the presence of prominent hemangiopericytoma-like vessels and that arises from the peritoneum." [url:https\://medscimonit.com/abstract/index/idArt/459077/act/3] synonym: "malignant peritoneal solitary fibrous tumour" EXACT [] synonym: "Pleural and peritoneal Solitary fibrous tumor" EXACT [] synonym: "Pleural and peritoneal Solitary fibrous tumour" EXACT [] is_a: DOID:1725 ! peritoneum cancer [Term] id: DOID:4491 name: persian gulf syndrome def: "A syndrome affecting returning military veterans and civilian workers of the Gulf War." [url:http\://en.wikipedia.org/wiki/Gulf_War_syndrome] synonym: "Gulf war syndrome" EXACT [] xref: MESH:D018923 xref: SNOMEDCT_US_2023_03_01:95877004 xref: UMLS_CUI:C0282550 is_a: DOID:225 ! syndrome [Term] id: DOID:4492 name: avian influenza def: "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." [url:http\://www.cdc.gov/flu/avian/gen-info/avian-flu-humans.htm, url:http\://www.who.int/mediacentre/factsheets/avian_influenza/en/index.html, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=avian%20influenza] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease synonym: "avian flu" EXACT [] synonym: "bird flu" EXACT [] xref: ICD10CM:J09.X xref: MESH:D005585 xref: SNOMEDCT_US_2023_03_01:55604004 xref: UMLS_CUI:C0016627 is_a: DOID:8469 ! influenza [Term] id: DOID:4493 name: obsolete Orthomyxoviridae infectious disease def: "A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Orthomyxoviridae] synonym: "disease due to Orthomyxoviridae (disorder)" EXACT [] synonym: "Orthomyxoviridae disease" EXACT [] is_obsolete: true [Term] id: DOID:4496 name: obsolete metastatic malignant neoplasm to the cervix synonym: "metastasis to the Cervix Uteri" EXACT [] synonym: "secondary malignant neoplasm of cervix uteri (disorder)" EXACT [] synonym: "secondary malignant neoplasm of uterine cervix (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4499 name: obsolete child nutrition disorder is_obsolete: true [Term] id: DOID:450 name: myotonic disease def: "A muscular dystrophy that is characterized by progressive muscle wasting and weakness." [url:http\://en.wikipedia.org/wiki/Myotonic_dystrophy, url:http\://ghr.nlm.nih.gov/condition/myotonic-dystrophy, url:http\://www.genome.gov/25521207] subset: DO_FlyBase_slim subset: NCIthesaurus xref: ICD10CM:G71.1 xref: ICD9CM:359.2 xref: MESH:D020967 xref: NCI:C84913 xref: SNOMEDCT_US_2023_03_01:155096007 xref: UMLS_CUI:C0553604 is_a: DOID:9884 ! muscular dystrophy property_value: exactMatch "MESH:D009223" xsd:string [Term] id: DOID:4500 name: hypokalemia subset: NCIthesaurus synonym: "hypopotassemia" EXACT [] synonym: "potassium deficiency disorder" EXACT [] xref: NCI:C34939 xref: UMLS_CUI:C1514284 is_a: DOID:0050032 ! mineral metabolism disease [Term] id: DOID:4501 name: orofaciodigital syndrome def: "A syndrome that is characterized by malformations of the face, oral cavity, and digits." [url:http\://en.wikipedia.org/wiki/Orofaciodigital_syndrome, url:https\://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. synonym: "oral-facial-digital syndrome" EXACT [] xref: ICD10CM:Q87.0 xref: MESH:D009958 xref: SNOMEDCT_US_2023_03_01:52868006 xref: UMLS_CUI:C0029294 is_a: DOID:225 ! syndrome [Term] id: DOID:4502 name: obsolete relapsed angiosarcoma synonym: "relapsed hemangiosarcoma" EXACT [] is_obsolete: true [Term] id: DOID:4504 name: central nervous system angiosarcoma def: "A central nervous system sarcoma that is located_in the inner lining of blood vessels." [url:http\://thejns.org/doi/abs/10.3171/jns.1991.75.1.0073] subset: NCIthesaurus synonym: "hemangiosarcoma of the CNS" EXACT [] xref: NCI:C5450 xref: UMLS_CUI:C1332875 is_a: DOID:2133 ! central nervous system sarcoma [Term] id: DOID:4505 name: childhood angiosarcoma def: "An angiosarcoma that affects children." [url:http\://findarticles.com/p/articles/mi_qa3725/is_201003/ai_n53080216/] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "paediatric angiosarcoma" EXACT [] synonym: "paediatric hemangiosarcoma" EXACT [] synonym: "pediatric angiosarcoma" EXACT [] synonym: "pediatric hemangiosarcoma" EXACT [] xref: NCI:C9174 xref: UMLS_CUI:C0279988 is_a: DOID:0001816 ! angiosarcoma [Term] id: DOID:4509 name: obsolete angiosarcoma associated with lymphedema is_obsolete: true [Term] id: DOID:4510 name: aorta angiosarcoma def: "An angiosarcoma that is located_in the aorta." [url:https\://academic.oup.com/icvts/article/6/6/832/649705, url:https\://pubmed.ncbi.nlm.nih.gov/34238080/] subset: NCIthesaurus synonym: "Aortic hemangiosarcoma" EXACT [] xref: NCI:C5376 xref: UMLS_CUI:C1332312 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:520 ! aortic disease [Term] id: DOID:4511 name: breast angiosarcoma def: "An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area." [url:http\://breastcancer.about.com/od/types/p/angiosarcoma.htm] subset: DO_cancer_slim subset: NCIthesaurus synonym: "hemangiosarcoma of the breast" EXACT [] xref: MESH:C536368 xref: NCI:C5184 xref: UMLS_CUI:C1332614 is_a: DOID:3017 ! breast sarcoma [Term] id: DOID:4512 name: conventional angiosarcoma subset: NCIthesaurus xref: NCI:C9426 xref: UMLS_CUI:C1333155 is_a: DOID:0001816 ! angiosarcoma [Term] id: DOID:4513 name: gallbladder angiosarcoma def: "An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15861270] subset: NCIthesaurus synonym: "hemangiosarcoma of gallbladder" EXACT [] xref: NCI:C5840 xref: UMLS_CUI:C1333742 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:3121 ! gallbladder cancer [Term] id: DOID:4514 name: thyroid angiosarcoma def: "A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter." [url:http\://www.pathologyoutlines.com/thyroid.html] subset: NCIthesaurus synonym: "hemangiosarcoma of the Thyroid" EXACT [] xref: NCI:C6043 xref: UMLS_CUI:C1336748 is_a: DOID:4515 ! thyroid sarcoma [Term] id: DOID:4515 name: thyroid sarcoma def: "A thyroid gland cancer that is located_in the supporting cells of the thyroid." [url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_thyroid_cancer_43.asp] subset: NCIthesaurus synonym: "sarcoma of the Thyroid gland" EXACT [] xref: NCI:C6041 xref: UMLS_CUI:C1336756 is_a: DOID:1115 ! sarcoma is_a: DOID:1781 ! thyroid cancer [Term] id: DOID:4517 name: skin angiosarcoma def: "An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration." [url:http\://ezinearticles.com/?Symptoms-of-Angiosarcoma&id=2101634] subset: NCIthesaurus synonym: "angiosarcoma of skin" EXACT [] synonym: "hemangiosarcoma of the skin" EXACT [] xref: NCI:C4489 xref: SNOMEDCT_US_2023_03_01:254794007 xref: UMLS_CUI:C0346081 is_a: DOID:2687 ! skin sarcoma [Term] id: DOID:452 name: pleomorphic adenoma def: "A gastrointestinal system benign neoplasm that is a located_in the salivary glands." [url:http\://en.wikipedia.org/wiki/Pleomorphic_adenoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "mixed tumor of the Salivary gland" EXACT [] xref: ICDO:8940/0 xref: MESH:D008949 xref: MIM:181030 xref: NCI:C35691 xref: SNOMEDCT_US_2023_03_01:8360001 xref: UMLS_CUI:C0026277 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm [Term] id: DOID:4520 name: cervical endometrial stromal sarcoma def: "A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22986788] subset: DO_cancer_slim subset: NCIthesaurus synonym: "endometrial stromal sarcoma of the cervix" EXACT [] xref: NCI:C40220 xref: UMLS_CUI:C3642326 is_a: DOID:4521 ! cervix endometrial stromal tumor [Term] id: DOID:4521 name: cervix endometrial stromal tumor def: "A cervical cancer that derives_from the fibrous connective tissue of the endometrium." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17619891] subset: NCIthesaurus xref: NCI:C40218 xref: UMLS_CUI:C4289586 is_a: DOID:4362 ! cervical cancer [Term] id: DOID:4522 name: superior vena cava angiosarcoma subset: NCIthesaurus synonym: "angiosarcoma of the Superior Vena Cava" EXACT [] xref: NCI:C5378 xref: UMLS_CUI:C1336530 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:866 ! vein disease [Term] id: DOID:4524 name: prostate angiosarcoma def: "An angiosarcoma and sarcoma of prostate that is located_in the prostate." [url:http\://informahealthcare.com/doi/abs/10.3109/00313029009063790?journalCode=pat] subset: NCIthesaurus synonym: "Prostatic hemangiosarcoma" EXACT [] xref: NCI:C5528 xref: UMLS_CUI:C1335504 is_a: DOID:4054 ! prostate sarcoma [Term] id: DOID:4525 name: mediastinum angiosarcoma def: "An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925857/] subset: NCIthesaurus synonym: "hemangiosarcoma of mediastinum" EXACT [] xref: NCI:C6613 xref: UMLS_CUI:C1334649 is_a: DOID:0001816 ! angiosarcoma [Term] id: DOID:4527 name: ovarian angiosarcoma def: "An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24520828] subset: NCIthesaurus synonym: "hemangiosarcoma of Ovary" EXACT [] xref: NCI:C5232 xref: UMLS_CUI:C1335152 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:1115 ! sarcoma is_a: DOID:2394 ! ovarian cancer [Term] id: DOID:4531 name: mucoepidermoid carcinoma def: "A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation." [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma] subset: DO_rare_slim subset: NCIthesaurus synonym: "MEC" EXACT OMO:0003012 [] xref: GARD:10671 xref: ICDO:8430/3 xref: MESH:D018277 xref: NCI:C3772 xref: SNOMEDCT_US_2023_03_01:4079000 xref: UMLS_CUI:C0206694 is_a: DOID:305 ! carcinoma [Term] id: DOID:4534 name: Hallermann-Streiff syndrome def: "A syndrome that affects growth, cranial development, hair growth and dental development." [url:http\://en.wikipedia.org/wiki/Hallermann-Streiff_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Francois dyscephalic syndrome" EXACT [] synonym: "Hallerman - Streiff syndrome" EXACT [] synonym: "Hallermann's syndrome" EXACT [] xref: GARD:288 xref: MESH:D006210 xref: MIM:234100 xref: NCI:C84746 xref: ORDO:2108 xref: SNOMEDCT_US_2023_03_01:7903009 xref: UMLS_CUI:C0018522 is_a: DOID:225 ! syndrome [Term] id: DOID:4535 name: hypotrichosis def: "A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles." [url:http\://en.wikipedia.org/wiki/Hypotrichosis, url:http\://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis] comment: Xref MGI. subset: DO_rare_slim xref: MESH:D007039 xref: MIM:PS605389 xref: ORDO:55654 xref: SNOMEDCT_US_2023_03_01:53602002 xref: UMLS_CUI:C0020678 is_a: DOID:421 ! hair disease [Term] id: DOID:4539 name: obsolete labyrinthine disease comment: merged labyrinthine disease into inner ear disease [LS] is_obsolete: true [Term] id: DOID:4540 name: dysgraphia def: "A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper." [url:http\://en.wikipedia.org/wiki/Dysgraphia, url:http\://www.ninds.nih.gov/disorders/dysgraphia/dysgraphia.htm] xref: ICD10CM:R48.8 xref: MESH:D000381 xref: SNOMEDCT_US_2023_03_01:27206009 xref: UMLS_CUI:C0001825 is_a: DOID:0060047 ! writing disorder [Term] id: DOID:4541 name: nominal aphasia def: "An agnosia that involves a severe problem with recalling words or names." [url:http\://en.wikipedia.org/wiki/Nominal_aphasia] subset: NCIthesaurus synonym: "anomia" EXACT [] synonym: "Anomic aphasia" EXACT [] xref: MESH:D000849 xref: NCI:C34386 xref: SNOMEDCT_US_2023_03_01:10325006 xref: UMLS_CUI:C0003113 is_a: DOID:0060046 ! aphasia [Term] id: DOID:4542 name: basophil adenoma subset: NCIthesaurus synonym: "Pituitary gland Basophilic adenoma" EXACT [] xref: ICDO:8300/0 xref: MESH:D000237 xref: NCI:C2856 xref: SNOMEDCT_US_2023_03_01:9436005 xref: UMLS_CUI:C0001431 is_a: DOID:3829 ! pituitary adenoma is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:4543 name: retrograde amnesia def: "An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection." [url:http\://en.wikipedia.org/wiki/Amnesia] subset: NCIthesaurus xref: ICD10CM:R41.2 xref: MESH:D000648 xref: NCI:C34372 xref: SNOMEDCT_US_2023_03_01:51921000 xref: UMLS_CUI:C0002624 is_a: DOID:10914 ! amnestic disorder [Term] id: DOID:4545 name: mesenchymal chondrosarcoma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9240/3 xref: MESH:D018211 xref: NCI:C3737 xref: SNOMEDCT_US_2023_03_01:56565002 xref: UMLS_CUI:C0206637 is_a: DOID:3371 ! chondrosarcoma [Term] id: DOID:4546 name: childhood mesenchymal chondrosarcoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric mesenchymal chondrosarcoma" EXACT [] xref: NCI:C27374 xref: UMLS_CUI:C1332982 is_a: DOID:4545 ! mesenchymal chondrosarcoma [Term] id: DOID:4547 name: adult mesenchymal chondrosarcoma def: "An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage." [url:http\://sarcomahelp.org/learning_center/mesenchymal_chondrosarcoma.html] subset: NCIthesaurus xref: NCI:C27375 xref: UMLS_CUI:C1332207 is_a: DOID:4545 ! mesenchymal chondrosarcoma [Term] id: DOID:4548 name: extraskeletal mesenchymal chondrosarcoma subset: NCIthesaurus synonym: "mesenchymal extraosseous chondrosarcoma" EXACT [] xref: NCI:C27481 xref: SNOMEDCT_US_2023_03_01:404080006 xref: UMLS_CUI:C1275279 is_a: DOID:4549 ! extraskeletal myxoid chondrosarcoma [Term] id: DOID:4549 name: extraskeletal myxoid chondrosarcoma alt_id: DOID:6496 def: "A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern." [url:https\://en.wikipedia.org/wiki/Myxoid_chondrosarcoma, url:https\://pubmed.ncbi.nlm.nih.gov/10564384/, url:https\://www.ncbi.nlm.nih.gov/pubmed/16084955] comment: nomenclature update. subset: DO_cancer_slim subset: NCIthesaurus synonym: "extraosseous chondrosarcoma" EXACT [] synonym: "Myxoid extraosseous chondrosarcoma" EXACT [] xref: ICDO:9231/3 xref: MESH:C563195 xref: MIM:612237 xref: NCI:C27502 xref: SNOMEDCT_US_2023_03_01:404079008 xref: UMLS_CUI:C1275278 is_a: DOID:3371 ! chondrosarcoma [Term] id: DOID:4550 name: anal gland neoplasm xref: MESH:D000694 xref: UMLS_CUI:C0002757 is_a: DOID:4551 ! anus benign neoplasm [Term] id: DOID:4551 name: anus benign neoplasm subset: NCIthesaurus synonym: "anal neoplasm" EXACT [] synonym: "anal tumors" EXACT [] synonym: "neoplasm of anus" EXACT [] xref: MESH:D001005 xref: NCI:C2877 xref: SNOMEDCT_US_2023_03_01:126849006 xref: UMLS_CUI:C0003463 is_a: DOID:3128 ! anus disease is_a: DOID:4610 ! intestinal benign neoplasm [Term] id: DOID:4552 name: large cell carcinoma def: "A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: NCIthesaurus xref: ICDO:8012/3 xref: MESH:D018287 xref: NCI:C3780 xref: SNOMEDCT_US_2023_03_01:22687000 xref: UMLS_CUI:C0206704 is_a: DOID:305 ! carcinoma [Term] id: DOID:4553 name: thymus large cell carcinoma subset: NCIthesaurus synonym: "large cell carcinoma of the Thymus" EXACT [] xref: NCI:C6461 xref: UMLS_CUI:C1334364 is_a: DOID:3284 ! thymic carcinoma [Term] id: DOID:4554 name: type C thymoma subset: NCIthesaurus synonym: "Thymoma, type C" EXACT [] xref: NCI:C7612 xref: SNOMEDCT_US_2023_03_01:15949004 xref: UMLS_CUI:C1322286 is_a: DOID:3275 ! thymoma [Term] id: DOID:4555 name: ovarian large-cell neuroendocrine carcinoma def: "An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and has_material_basis_in neuroendocrine cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014794/] subset: NCIthesaurus synonym: "Non-small-cell type neuroendocrine carcinoma of Ovary" EXACT [] xref: NCI:C5238 xref: UMLS_CUI:C1335174 is_a: DOID:4001 ! ovarian carcinoma [Term] id: DOID:4556 name: lung large cell carcinoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "large cell carcinoma of lung" EXACT [] synonym: "large cell lung carcinoma" EXACT [] xref: NCI:C4450 xref: SNOMEDCT_US_2023_03_01:254629004 xref: UMLS_CUI:C0345958 is_a: DOID:3908 ! lung non-small cell carcinoma [Term] id: DOID:4557 name: oral leukoedema def: "A mouth disease that is characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer." [url:https\://en.wikipedia.org/wiki/Leukoedema] comment: Dorland, 27th ed [LS] synonym: "Leukedema of mouth" EXACT [] xref: MESH:D007967 xref: SNOMEDCT_US_2023_03_01:67795000 xref: UMLS_CUI:C0023523 is_a: DOID:403 ! mouth disease [Term] id: DOID:4558 name: Ludwig's angina synonym: "cellulitis of floor of mouth" EXACT [] synonym: "Ludwig angina" EXACT [] xref: MESH:D008158 xref: SNOMEDCT_US_2023_03_01:54572003 xref: UMLS_CUI:C0024081 is_a: DOID:3488 ! cellulitis [Term] id: DOID:456 name: ascariasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation." [url:http\://en.wikipedia.org/wiki/Ascariasis, url:http\://www.dpd.cdc.gov/DPDx/HTML/Ascariasis.htm, url:http\://www.merck.com/mmpe/sec14/ch182/ch182d.html?qt=ascariasis&alt=sh] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Ascariasis - roundworm" EXACT [] synonym: "Ascaris lumbricoides infection" RELATED [] xref: ICD10CM:B77 xref: ICD9CM:127.0 xref: MESH:D001196 xref: NCI:C128392 xref: SNOMEDCT_US_2023_03_01:2435008 xref: UMLS_CUI:C0003950 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:4560 name: non specific chronic endometritis def: "An endometritis that is present for weeks or more and does not have an identifiable causative organism." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9653909] subset: NCIthesaurus xref: NCI:C27625 xref: UMLS_CUI:C1335061 is_a: DOID:1002 ! endometritis [Term] id: DOID:4561 name: granulomatous endometritis def: "An endometritis that is characterized by the presence of granulomas in the uterus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1326899] subset: NCIthesaurus xref: NCI:C27626 xref: UMLS_CUI:C1333876 is_a: DOID:1002 ! endometritis [Term] id: DOID:4562 name: subacute bacterial endocarditis subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "Endocarditis lenta" EXACT [] synonym: "SBE - Subacute bacterial endocarditis" EXACT [] synonym: "Subacute endocarditis, lenta" EXACT [] xref: MESH:D004698 xref: NCI:C34583 xref: SNOMEDCT_US_2023_03_01:155334001 xref: UMLS_CUI:C0014122 is_a: DOID:0060000 ! infective endocarditis [Term] id: DOID:457 name: obsolete Ascaridida infectious disease def: "A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end." [url:http\://en.wikipedia.org/wiki/Ascaridida] is_obsolete: true [Term] id: DOID:4582 name: obsolete metastatic meningioma is_obsolete: true [Term] id: DOID:4583 name: obsolete deletion of short arm of chromosome 1 (1p) associated meningioma is_obsolete: true [Term] id: DOID:4584 name: choroid plexus meningioma subset: NCIthesaurus synonym: "Choroid meningioma" EXACT [] synonym: "meningioma of the Choroid Plexus" EXACT [] xref: NCI:C4719 xref: SNOMEDCT_US_2023_03_01:253082002 xref: UMLS_CUI:C0431118 is_a: DOID:3540 ! choroid plexus cancer is_a: DOID:6112 ! cerebral meningioma [Term] id: DOID:4585 name: obsolete relapsed meningioma is_obsolete: true [Term] id: DOID:4586 name: familial meningioma comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus xref: MESH:C537443 xref: NCI:C5301 xref: UMLS_CUI:C1333989 is_a: DOID:3565 ! meningioma [Term] id: DOID:4587 name: benign meningioma subset: NCIthesaurus synonym: "meningioma, benign" EXACT [] xref: MESH:D008579 xref: NCI:C4055 xref: SNOMEDCT_US_2023_03_01:1157019008 xref: UMLS_CUI:C0281784 is_a: DOID:0060090 ! central nervous system benign neoplasm [Term] id: DOID:4588 name: secretory meningioma subset: NCIthesaurus xref: MESH:D008579 xref: NCI:C4718 xref: SNOMEDCT_US_2023_03_01:253081009 xref: UMLS_CUI:C1384406 is_a: DOID:3565 ! meningioma [Term] id: DOID:4589 name: obsolete deletion of chromosome 22 associated meningioma is_obsolete: true [Term] id: DOID:4590 name: obsolete multiple meningiomas synonym: "meningiomatosis" EXACT [] synonym: "meningiomatosis (morphologic abnormality)" EXACT [] synonym: "meningiomatosis NOS (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:4591 name: lymphoplasmacyte-rich meningioma subset: NCIthesaurus synonym: "Lymphoplasmocyte-rich meningioma" EXACT [] xref: NCI:C4720 xref: SNOMEDCT_US_2023_03_01:19453003 xref: UMLS_CUI:C0431119 is_a: DOID:3565 ! meningioma [Term] id: DOID:4593 name: childhood meningioma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric meningioma" EXACT [] xref: NCI:C8264 xref: UMLS_CUI:C0280656 is_a: DOID:3565 ! meningioma [Term] id: DOID:4594 name: microcystic meningioma subset: NCIthesaurus xref: MESH:D008579 xref: NCI:C4721 xref: SNOMEDCT_US_2023_03_01:253084001 xref: UMLS_CUI:C1384408 is_a: DOID:3565 ! meningioma [Term] id: DOID:4595 name: obsolete adult meningioma is_obsolete: true [Term] id: DOID:4596 name: obsolete central nervous system adult tumor synonym: "neoplasm of adult CNS" EXACT [] is_obsolete: true [Term] id: DOID:4598 name: obsolete deletion of chromosome 3p associated meningioma is_obsolete: true [Term] id: DOID:4603 name: epidermolytic hyperkeratosis def: "An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth." [url:https\://dermnetnz.org/topics/epidermolytic-ichthyosis, url:https\://medlineplus.gov/genetics/condition/epidermolytic-hyperkeratosis/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Bullous ichthyosiform erythroderma" EXACT [] synonym: "epidermolytic ichthyosis" EXACT [] synonym: "Epidermolytic palmoplantar hyperkeratosis" EXACT [] xref: ICD10CM:Q80.3 xref: MESH:D017488 xref: MIM:PS113800 xref: NCI:C62569 xref: SNOMEDCT_US_2023_03_01:20512000 xref: UMLS_CUI:C0079153 is_a: DOID:1697 ! ichthyosis [Term] id: DOID:4606 name: bile duct cancer alt_id: DOID:10019 def: "A biliary tract cancer that is located_in the bile duct." [url:http\://www.cancer.gov/dictionary/?CdrID=527370] subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "bile duct tumor" EXACT [] synonym: "Ca extrahepatic bile ducts" EXACT [] synonym: "malignant neoplasm of the extrahepatic bile duct" EXACT [] xref: ICD10CM:C24.0 xref: ICD9CM:156.1 xref: MESH:D001650 xref: NCI:C2898 xref: NCI:C7483 xref: SNOMEDCT_US_2023_03_01:93790004 xref: UMLS_CUI:C0005396 xref: UMLS_CUI:C0153453 is_a: DOID:4138 ! bile duct disease is_a: DOID:4607 ! biliary tract cancer [Term] id: DOID:4607 name: biliary tract cancer alt_id: DOID:8092 def: "A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct." [url:http\://en.wikipedia.org/wiki/Biliary_tract_cancer] subset: DO_cancer_slim subset: DO_rare_slim synonym: "malignant tumour of biliary tract" EXACT [] xref: GARD:5924 xref: GARD:9304 xref: ICD10CM:C24.9 xref: ICD9CM:156.9 xref: MESH:D001661 xref: SNOMEDCT_US_2023_03_01:126853008 xref: SNOMEDCT_US_2023_03_01:93688006 xref: UMLS_CUI:C0005426 xref: UMLS_CUI:C0750952 is_a: DOID:0080355 ! hepatobiliary system cancer [Term] id: DOID:4608 name: common bile duct neoplasm synonym: "neoplasm of common bile duct" EXACT [] xref: MESH:D003138 xref: SNOMEDCT_US_2023_03_01:126857009 xref: UMLS_CUI:C0009442 is_a: DOID:0050625 ! biliary tract benign neoplasm [Term] id: DOID:461 name: muscle benign neoplasm alt_id: DOID:2692 subset: NCIthesaurus synonym: "muscle neoplasm" EXACT [] synonym: "muscle tissue neoplasm" EXACT [] synonym: "Myomatous neoplasm" EXACT [] synonym: "Myomatous tumor" EXACT [] synonym: "neoplasm of muscle" EXACT [] xref: MESH:D009379 xref: MESH:D019042 xref: NCI:C4063 xref: SNOMEDCT_US_2023_03_01:115228006 xref: UMLS_CUI:C0027664 xref: UMLS_CUI:C0282606 is_a: DOID:0060099 ! musculoskeletal system benign neoplasm is_a: DOID:0080000 ! muscular disease [Term] id: DOID:4610 name: intestinal benign neoplasm def: "A gastrointestinal system benign neoplasm that is located_in the intestine." [url:http\://en.wikipedia.org/wiki/Benign_tumor] subset: NCIthesaurus synonym: "intestinal tumors" EXACT [] synonym: "intestine growth" EXACT [] synonym: "neoplasm of intestinal tract" EXACT [] xref: MESH:D007414 xref: NCI:C3141 xref: SNOMEDCT_US_2023_03_01:126769007 xref: UMLS_CUI:C0021841 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:5295 ! intestinal disease [Term] id: DOID:4613 name: ulnar neuropathy xref: MESH:D020424 xref: SNOMEDCT_US_2023_03_01:55802003 xref: UMLS_CUI:C0154743 is_a: DOID:1188 ! mononeuropathy [Term] id: DOID:4615 name: obsolete carcinoma of unknown primary synonym: "carcinoma of unknown primary" EXACT [] is_obsolete: true [Term] id: DOID:4616 name: obsolete bovine atypical interstitial pneumonia def: "A bovine respiratory disease complex defined as an acute, noncontagious respiratory distress caused 5-10days after change to a better, often lush, pasture. Metabolites of the naturally occurring amino acid L-tryptophan probably are responsible for the disease. Severely affected cattle show extensive respiratory distress with mouth breathing, extension of the tongue, and drooling. There is extensive edema and emphysema, often with the formation of large air-filled bullae in interlobular and subpleural regions of the lung." [url:http\://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121221.htm&hide=1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1789549/pdf/canvetj00318-0047.pdf] synonym: "acute bovine pulmonary emphysema AND edema (disorder)" EXACT [] synonym: "Atypical interstitial pneumonia of cattle (disorder)" EXACT [] synonym: "Fog fever" EXACT [] is_obsolete: true [Term] id: DOID:4617 name: periapical granuloma synonym: "Apical granuloma" EXACT [] xref: MESH:D010484 xref: SNOMEDCT_US_2023_03_01:196344002 xref: UMLS_CUI:C0031029 is_a: DOID:823 ! periapical periodontitis [Term] id: DOID:4618 name: maxillary cancer def: "A jaw cancer that effects the maxilla or upper jaw." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2654824/] synonym: "maxillary neoplasm" RELATED [] synonym: "upper jaw bone cancer" RELATED [] xref: MESH:D008441 xref: SNOMEDCT_US_2023_03_01:126550004 xref: UMLS_CUI:C0024954 is_a: DOID:1862 ! jaw cancer [Term] id: DOID:462 name: obsolete cancer by anatomical entity alt_id: DOID:8996 def: "A cancer that affects an anatomical entity." [DO:lh] synonym: "malignant neoplasm of aortic body and other paraganglia" EXACT [] synonym: "malignant neoplasm of aortic body and other paraganglia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4621 name: holoprosencephaly def: "A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies." [url:http\://en.wikipedia.org/wiki/Holoprosencephaly, url:http\://www.ncbi.nlm.nih.gov/books/NBK1530/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Holoprosencephaly sequence" EXACT [] xref: GARD:6665 xref: ICD10CM:Q04.2 xref: MESH:D016142 xref: MIM:PS236100 xref: NCI:C74988 xref: ORDO:2162 xref: SNOMEDCT_US_2023_03_01:30915001 xref: UMLS_CUI:C0079541 is_a: DOID:225 ! syndrome is_a: DOID:2490 ! congenital nervous system abnormality [Term] id: DOID:4624 name: Ollier disease def: "A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet." [url:http\://en.wikipedia.org/wiki/Ollier_disease, url:http\://rarediseases.info.nih.gov/GARD/Condition/7251/Ollier_disease.aspx] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "dyschondroplasia" EXACT [] synonym: "Enchondromatosis with haemangiomata" EXACT [] synonym: "ENCHONDROMATOSIS, MULTIPLE" EXACT [] synonym: "Kast's syndrome" EXACT [] synonym: "osteochondromatosis" EXACT [] xref: GARD:7251 xref: ICD10CM:Q78.4 xref: MESH:D004687 xref: MIM:166000 xref: NCI:C3213 xref: ORDO:296 xref: SNOMEDCT_US_2023_03_01:46041001 xref: UMLS_CUI:C0024454 is_a: DOID:225 ! syndrome [Term] id: DOID:4625 name: obsolete enchondromatosis synonym: "Enchondromatosis (disorder)" EXACT [] synonym: "Ollier disease" EXACT [] synonym: "Ollier's disease" EXACT [] is_obsolete: true [Term] id: DOID:4626 name: hydranencephaly subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6681 xref: ICD10CM:Q04.3 xref: MESH:D006832 xref: NCI:C98949 xref: SNOMEDCT_US_2023_03_01:30023002 xref: UMLS_CUI:C0020225 is_a: DOID:0060668 ! anencephaly [Term] id: DOID:4627 name: ideomotor apraxia subset: DO_FlyBase_slim synonym: "Classic apraxia" EXACT [] synonym: "Ideomotor dyspraxia" EXACT [] synonym: "Limb-kinetic apraxia" EXACT [] synonym: "Transcortical apraxia" EXACT [] xref: MESH:D020240 xref: SNOMEDCT_US_2023_03_01:39746003 xref: UMLS_CUI:C0234523 is_a: DOID:0060135 ! apraxia [Term] id: DOID:4629 name: obsolete porcine reproductive and respiratory syndrome def: "A viral infectious disease that results_in infection causing reproductive failure of sows and respiratory problems of piglets and growing pigs, has_material_basis_in Porcine reproductive and respiratory syndrome virus, which is transmitted_by contact with feces, urine and semen of infected pigs, and transmitted_by fomites. The infection has_symptom stillborn piglets, has_symptom mummified fetuses, has_symptom premature farrowings, has_symptom weak-born pigs, and has_symptom pneumonia." [url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/54100.htm, url:http\://www.oie.int/eng/normes/mmanual/2008/pdf/2.08.07_PRRS.pdf] is_obsolete: true [Term] id: DOID:4630 name: inverted transitional papilloma synonym: "transitional papilloma, inverted" EXACT [] xref: SNOMEDCT_US_2023_03_01:46580000 xref: UMLS_CUI:C0334269 is_a: DOID:2670 ! transitional papilloma [Term] id: DOID:4631 name: obsolete inverted papilloma of paranasal sinus synonym: "Inverting papilloma of Accessory sinus" EXACT [] is_obsolete: true [Term] id: DOID:4633 name: nasal cavity inverting papilloma subset: NCIthesaurus synonym: "Inverting papilloma of the nasal cavity" EXACT [] xref: NCI:C8194 xref: UMLS_CUI:C0280336 is_a: DOID:9310 ! nasal cavity benign neoplasm [Term] id: DOID:4636 name: submandibular adenitis subset: NCIthesaurus synonym: "submandibular lymphadenitis" EXACT [] xref: NCI:C27016 xref: SNOMEDCT_US_2023_03_01:15170009 xref: UMLS_CUI:C0235591 is_a: DOID:4637 ! cervical adenitis [Term] id: DOID:4637 name: cervical adenitis subset: NCIthesaurus synonym: "cervical lymphadenitis" EXACT [] xref: NCI:C26937 xref: SNOMEDCT_US_2023_03_01:3502005 xref: UMLS_CUI:C0149642 is_a: DOID:1602 ! lymphadenitis [Term] id: DOID:4638 name: postauricular lymphadenitis subset: NCIthesaurus xref: NCI:C27332 xref: UMLS_CUI:C0919638 is_a: DOID:1602 ! lymphadenitis [Term] id: DOID:4639 name: suppurative lymphadenitis subset: NCIthesaurus synonym: "Suppurative lymphadenopathy" EXACT [] xref: NCI:C27135 xref: SNOMEDCT_US_2023_03_01:48573006 xref: UMLS_CUI:C0392051 is_a: DOID:1602 ! lymphadenitis [Term] id: DOID:4640 name: axillary adenitis subset: NCIthesaurus xref: NCI:C27333 xref: UMLS_CUI:C0919797 is_a: DOID:1602 ! lymphadenitis [Term] id: DOID:4641 name: obsolete Bacteroides infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:4644 name: epidermolysis bullosa simplex def: "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin." [url:https\://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#genes] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10752 xref: ICD10CM:Q81.0 xref: MESH:D016110 xref: MIM:601001 xref: MIM:615425 xref: NCI:C84692 xref: ORDO:304 xref: SNOMEDCT_US_2023_03_01:205585003 xref: UMLS_CUI:C0079298 is_a: DOID:2730 ! epidermolysis bullosa [Term] id: DOID:4645 name: retinal cancer alt_id: DOID:770 subset: NCIthesaurus synonym: "malignant neoplasm of retina" EXACT [] synonym: "malignant Retinal neoplasm" EXACT [] synonym: "malignant tumor of retina" EXACT [] synonym: "neoplasm of retina" EXACT [] synonym: "Retinal tumor" EXACT [] xref: ICD10CM:C69.2 xref: ICD9CM:190.5 xref: MESH:D019572 xref: NCI:C3216 xref: NCI:C4800 xref: SNOMEDCT_US_2023_03_01:127002001 xref: SNOMEDCT_US_2023_03_01:93987004 xref: UMLS_CUI:C0024622 xref: UMLS_CUI:C0524801 is_a: DOID:2174 ! ocular cancer is_a: DOID:5679 ! retinal disease [Term] id: DOID:4647 name: trilateral retinoblastoma def: "A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10391573] comment: OMIM mapping confirmed by DO. [LS]. is_a: DOID:768 ! retinoblastoma [Term] id: DOID:4648 name: familial retinoblastoma subset: NCIthesaurus synonym: "Hereditary Retinoblastoma" EXACT [] xref: MESH:D012175 xref: NCI:C8495 xref: UMLS_CUI:C0751483 is_a: DOID:768 ! retinoblastoma [Term] id: DOID:4650 name: bilateral retinoblastoma def: "A retinoblastoma that develops in both eyes." [url:http\://en.wikipedia.org/wiki/Retinoblastoma] subset: NCIthesaurus xref: NCI:C8713 xref: UMLS_CUI:C0854914 is_a: DOID:768 ! retinoblastoma [Term] id: DOID:4651 name: unilateral retinoblastoma def: "A retinoblastoma that effects only one eye." [url:http\://en.wikipedia.org/wiki/Retinoblastoma] subset: NCIthesaurus xref: NCI:C8714 xref: UMLS_CUI:C0854915 is_a: DOID:768 ! retinoblastoma [Term] id: DOID:4653 name: intraocular retinoblastoma def: "A retinoblastoma that is located_in the eye and has not spread to other parts of the body." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28620731] subset: NCIthesaurus xref: NCI:C7846 xref: UMLS_CUI:C0278717 is_a: DOID:768 ! retinoblastoma [Term] id: DOID:4655 name: obsolete relapsed retinoblastoma is_obsolete: true [Term] id: DOID:4656 name: extraocular retinoblastoma def: "A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7] subset: NCIthesaurus xref: NCI:C7848 xref: UMLS_CUI:C0278719 is_a: DOID:768 ! retinoblastoma [Term] id: DOID:4658 name: benign mastocytoma subset: NCIthesaurus xref: ICD10CM:D47.09 xref: NCI:C9303 xref: SNOMEDCT_US_2023_03_01:134333006 xref: UMLS_CUI:C0024897 is_a: DOID:0060084 ! cell type benign neoplasm [Term] id: DOID:4659 name: extracutaneous mastocytoma subset: NCIthesaurus xref: ICD10CM:D47.09 xref: MESH:D034801 xref: NCI:C7136 xref: SNOMEDCT_US_2023_03_01:63175003 xref: UMLS_CUI:C0272202 is_a: DOID:349 ! systemic mastocytosis is_a: DOID:3664 ! mast cell neoplasm [Term] id: DOID:4660 name: indolent systemic mastocytosis subset: DO_cancer_slim subset: NCIthesaurus synonym: "ISM" EXACT OMO:0003012 [] xref: ICD10CM:D47.02 xref: ICDO:9741/1 xref: MESH:D034721 xref: NCI:C9286 xref: SNOMEDCT_US_2023_03_01:70910003 xref: UMLS_CUI:C0272203 is_a: DOID:349 ! systemic mastocytosis [Term] id: DOID:4661 name: multiple chemical sensitivity def: "A syndrome that is an adverse physical reaction to low levels of many common chemicals." [url:http\://en.wikipedia.org/wiki/Multiple_chemical_sensitivity, url:http\://www.osha.gov/SLTC/multiplechemicalsensitivities/index.html] synonym: "20th century disease" EXACT [] synonym: "chemical AIDS" EXACT [] synonym: "environmental illness" EXACT [] synonym: "idiopathic environmental illness" EXACT [] synonym: "total allergy syndrome" EXACT [] xref: MESH:D018777 xref: SNOMEDCT_US_2023_03_01:702772003 xref: UMLS_CUI:C0242992 is_a: DOID:225 ! syndrome [Term] id: DOID:4662 name: thalamic disease def: "A brain disease that is characterized by Dejerine-Roussy syndrome that develops from thalamic injury." [url:https\://en.wikipedia.org/wiki/Thalamus] subset: NCIthesaurus xref: MESH:D013786 xref: NCI:C85186 xref: UMLS_CUI:C0039726 is_a: DOID:936 ! brain disease [Term] id: DOID:4664 name: filamentary keratitis xref: ICD10CM:H16.12 xref: ICD9CM:370.23 xref: SNOMEDCT_US_2023_03_01:51286002 xref: UMLS_CUI:C0155077 is_a: DOID:4677 ! keratitis [Term] id: DOID:4665 name: obsolete superficial keratitis without conjunctivitis is_obsolete: true [Term] id: DOID:4667 name: kyphosis def: "A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column." [url:http\://en.wikipedia.org/wiki/Kyphosis, url:http\://www.mayoclinic.com/health/kyphosis/DS00681, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001240.htm, url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/kyphosis#\:~\:text=Postural%20kyphosis%3A%20the%20most%20common\,used%20to%20help%20correct%20posture, url:https\://www.ncbi.nlm.nih.gov/books/NBK558945/] synonym: "Kyphosis deformity of spine" EXACT [] is_a: DOID:0060564 ! spinal disease is_a: DOID:0080010 ! bone structure disease [Term] id: DOID:4668 name: congenital kyphosis def: "A kyphosis that results_in abnormal formation located_in body of vertebra." [url:http\://en.wikipedia.org/wiki/Kyphosis, url:http\://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html, url:http\://www.posna.org/education/StudyGuide/congenitalKyphosis.asp, url:http\://www.wheelessonline.com/ortho/congenital_kyphosis] is_a: DOID:4667 ! kyphosis [Term] id: DOID:467 name: venous hemangioma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9122/0 xref: NCI:C4296 xref: SNOMEDCT_US_2023_03_01:56468002 xref: UMLS_CUI:C0334532 is_a: DOID:255 ! hemangioma [Term] id: DOID:4671 name: freemartinism xref: MESH:D005611 xref: UMLS_CUI:C0016697 is_a: DOID:1923 ! disorder of sexual development [Term] id: DOID:4674 name: androgen insensitivity syndrome alt_id: DOID:4672 def: "A disorder of sexual development that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup." [url:http\://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome, url:https\://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1429/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Androgen resistance syndrome" EXACT [] synonym: "Androgen-Insensitivity Syndrome" EXACT [] synonym: "Feminisation - testicular" EXACT [] synonym: "Goldberg - Maxwell syndrome" EXACT [] synonym: "Goldberg-Maxwell syndrome" EXACT [] synonym: "testicular feminization" EXACT [] synonym: "testicular Feminization syndrome" EXACT [] xref: GARD:5803 xref: ICD10CM:E34.5 xref: ICD9CM:259.51 xref: MESH:D013734 xref: MIM:300068 xref: NCI:C27226 xref: ORDO:754 xref: SNOMEDCT_US_2023_03_01:12313004 xref: UMLS_CUI:C0039585 is_a: DOID:1923 ! disorder of sexual development property_value: narrowMatch "MESH:D013734" xsd:string [Term] id: DOID:4675 name: uremic neuropathy subset: NCIthesaurus xref: NCI:C27055 xref: SNOMEDCT_US_2023_03_01:11659006 xref: UMLS_CUI:C0268708 is_a: DOID:4676 ! uremia [Term] id: DOID:4676 name: uremia synonym: "UREMIA OF renal ORIGIN" EXACT [] xref: ICD10CM:N19 xref: MESH:D014511 xref: SNOMEDCT_US_2023_03_01:44730006 xref: UMLS_CUI:C0041948 is_a: DOID:1074 ! kidney failure [Term] id: DOID:4677 name: keratitis def: "A corneal disease that is characterized by inflammation of the cornea." [url:http\://www.mayoclinic.org/diseases-conditions/keratitis/basics/definition/con-20035288] subset: NCIthesaurus xref: ICD10CM:H16 xref: ICD9CM:370 xref: MESH:D007634 xref: NCI:C26805 xref: SNOMEDCT_US_2023_03_01:193757003 xref: UMLS_CUI:C0022568 is_a: DOID:10124 ! corneal disease [Term] id: DOID:4678 name: thymus mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in the thymus." [url:https\://www.pathologyoutlines.com/topic/salivaryglandsMEC.html] subset: NCIthesaurus synonym: "Mucoepidermoid carcinoma of the Thymus" EXACT [] xref: NCI:C6457 xref: UMLS_CUI:C1334814 is_a: DOID:3277 ! thymus cancer is_a: DOID:4531 ! mucoepidermoid carcinoma [Term] id: DOID:4679 name: breast mucoepidermoid carcinoma def: "A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758243/] subset: NCIthesaurus synonym: "mucoepidermoid carcinoma of breast" RELATED [] synonym: "Mucoepidermoid carcinoma of the breast" EXACT [] xref: NCI:C5166 xref: UMLS_CUI:C1334813 is_a: DOID:4680 ! breast metaplastic carcinoma [Term] id: DOID:468 name: intramuscular hemangioma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Intramuscular Angioma" EXACT [] xref: ICDO:9132/0 xref: MESH:D006391 xref: NCI:C3699 xref: SNOMEDCT_US_2023_03_01:54249004 xref: UMLS_CUI:C0205789 is_a: DOID:255 ! hemangioma is_a: DOID:461 ! muscle benign neoplasm [Term] id: DOID:4680 name: breast metaplastic carcinoma def: "A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types." [url:http\://www.archivesofpathology.org/doi/pdf/10.5858/arpa.2013-0358-RS?code=coap-site, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388429/] subset: DO_rare_slim subset: NCIthesaurus synonym: "metaplastic carcinoma of breast" RELATED [] synonym: "Metaplastic carcinoma of the breast" EXACT [] xref: GARD:10804 xref: ICDO:8575/3 xref: NCI:C5164 xref: SNOMEDCT_US_2023_03_01:763479005 xref: UMLS_CUI:C1334708 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:4681 name: bile duct mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in a bile duct." [url:https\://pubmed.ncbi.nlm.nih.gov/35140960/, url:https\://pubmed.ncbi.nlm.nih.gov/35697621/] subset: NCIthesaurus synonym: "Mucoepidermoid carcinoma of the bile duct" EXACT [] xref: NCI:C5862 xref: UMLS_CUI:C1332552 is_a: DOID:4531 ! mucoepidermoid carcinoma is_a: DOID:4606 ! bile duct cancer [Term] id: DOID:4682 name: extrahepatic bile duct carcinoma def: "A cholangiocarcinoma that arises from the extrahepatic bile ducts." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer] subset: NCIthesaurus synonym: "carcinoma of extrahepatic bile duct" EXACT [] synonym: "extrahepatic bile duct cancer" EXACT [] xref: NCI:C3860 xref: SNOMEDCT_US_2023_03_01:372101000 xref: UMLS_CUI:C0238019 is_a: DOID:4947 ! cholangiocarcinoma [Term] id: DOID:4683 name: cutaneous mucoepidermoid carcinoma subset: NCIthesaurus synonym: "Mucoepidermoid carcinoma of skin" EXACT [] synonym: "Mucoepidermoid skin carcinoma" EXACT [] xref: NCI:C4472 xref: SNOMEDCT_US_2023_03_01:254713002 xref: UMLS_CUI:C0346019 is_a: DOID:3451 ! skin carcinoma [Term] id: DOID:4684 name: obsolete skin appendage carcinoma synonym: "carcinoma of adnexa" EXACT [] synonym: "skin appendage carcinoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:4685 name: lacrimal gland mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in the lacrimal gland." [url:https\://www.pathologyoutlines.com/topic/salivaryglandsMEC.html] subset: NCIthesaurus synonym: "Mucoepidermoid carcinoma of the lacrimal gland" EXACT [] xref: NCI:C6091 xref: UMLS_CUI:C1334359 is_a: DOID:294 ! lacrimal gland cancer is_a: DOID:4531 ! mucoepidermoid carcinoma [Term] id: DOID:4686 name: mucoepidermoid esophageal carcinoma subset: NCIthesaurus synonym: "Mucoepidermoid carcinoma of the esophagus" EXACT [] xref: NCI:C5343 xref: UMLS_CUI:C1333461 is_a: DOID:1107 ! esophageal carcinoma [Term] id: DOID:4687 name: thyroid gland mucoepidermoid carcinoma def: "A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C38762] subset: NCIthesaurus synonym: "mucoepidermoid thyroid carcinoma" EXACT [] xref: NCI:C38762 xref: UMLS_CUI:C1513721 is_a: DOID:3963 ! thyroid gland carcinoma [Term] id: DOID:4688 name: laryngeal mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in the larynx." [url:https\://www.pathologyoutlines.com/topic/salivaryglandsMEC.html] subset: NCIthesaurus synonym: "Mucoepidermoid carcinoma of Larynx" EXACT [] xref: NCI:C9463 xref: UMLS_CUI:C1334373 is_a: DOID:2596 ! larynx cancer is_a: DOID:4531 ! mucoepidermoid carcinoma [Term] id: DOID:469 name: deep angioma subset: NCIthesaurus xref: NCI:C6555 xref: UMLS_CUI:C1333265 is_a: DOID:255 ! hemangioma [Term] id: DOID:4690 name: childhood mediastinal neurogenic tumor subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood mediastinal neurogenic tumour" EXACT [] synonym: "paediatric neurogenic tumour of mediastinum" EXACT [] synonym: "pediatric neurogenic tumor of mediastinum" EXACT [] xref: NCI:C5429 xref: UMLS_CUI:C1332981 is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm [Term] id: DOID:4691 name: malignant mediastinal neurogenic neoplasm def: "A mediastinal cancer that has_material_basis_in neural cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11154721] subset: NCIthesaurus synonym: "neurogenic tumor of mediastinum" EXACT [] xref: NCI:C6624 xref: UMLS_CUI:C1334672 is_a: DOID:5559 ! mediastinal cancer [Term] id: DOID:4692 name: endophthalmitis def: "A globe disease that is characterized by inflammation of the inside of the eye." [url:http\://en.wikipedia.org/wiki/Endophthalmitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=endophthalmitis, url:https\://www.merckmanuals.com/home/eye-disorders/uveitis-and-related-disorders/endophthalmitis] subset: NCIthesaurus xref: MESH:D009877 xref: NCI:C34586 xref: SNOMEDCT_US_2023_03_01:1847009 xref: UMLS_CUI:C0014236 is_a: DOID:1242 ! globe disease [Term] id: DOID:4693 name: nerve plexus neoplasm subset: NCIthesaurus synonym: "neural Plexus tumors" EXACT [] xref: NCI:C5822 xref: UMLS_CUI:C1334945 is_a: DOID:1192 ! peripheral nervous system neoplasm [Term] id: DOID:4694 name: obsolete malignant peripheral nerve neoplasm synonym: "malignant tumor of peripheral nerve (disorder)" EXACT [] synonym: "malignant tumor of PNS" EXACT [] is_obsolete: true [Term] id: DOID:4696 name: intraneural perineurioma subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10921 xref: NCI:C6911 xref: SNOMEDCT_US_2023_03_01:768934004 xref: UMLS_CUI:C1370658 is_a: DOID:4697 ! perineurioma [Term] id: DOID:4697 name: perineurioma alt_id: DOID:8371 subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "soft tissue Perineurioma" EXACT [] xref: GARD:12698 xref: ICDO:9571/0 xref: MESH:D018317 xref: NCI:C4973 xref: NCI:C6912 xref: SNOMEDCT_US_2023_03_01:128795001 xref: SNOMEDCT_US_2023_03_01:404036006 xref: UMLS_CUI:C0751691 xref: UMLS_CUI:C1370657 is_a: DOID:3193 ! peripheral nerve sheath neoplasm [Term] id: DOID:4698 name: nerve root neoplasm subset: NCIthesaurus synonym: "tumor of nerve Root" EXACT [] xref: NCI:C5119 xref: UMLS_CUI:C1334946 is_a: DOID:1192 ! peripheral nervous system neoplasm [Term] id: DOID:4699 name: epicardium cancer alt_id: DOID:14537 subset: NCIthesaurus synonym: "Epicardial tumor" EXACT [] synonym: "malignant Epicardial tumor" EXACT [] synonym: "malignant neoplasm of epicardium" EXACT [] xref: NCI:C5347 xref: SNOMEDCT_US_2023_03_01:126733004 xref: SNOMEDCT_US_2023_03_01:93782004 xref: UMLS_CUI:C0346610 xref: UMLS_CUI:C1290403 is_a: DOID:116 ! pericardium cancer [Term] id: DOID:47 name: prostate disease subset: NCIthesaurus xref: ICD10CM:N42.9 xref: ICD9CM:602.9 xref: MESH:D011469 xref: NCI:C26865 xref: SNOMEDCT_US_2023_03_01:30281009 xref: UMLS_CUI:C0033575 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:470 name: verrucous keratotic hemangioma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9142/0 xref: NCI:C4299 xref: SNOMEDCT_US_2023_03_01:20985003 xref: UMLS_CUI:C0334540 is_a: DOID:471 ! skin hemangioma [Term] id: DOID:4700 name: obsolete bathing trunk nevus synonym: "Congenital giant pigmented nevus of skin (disorder)" EXACT [] synonym: "Giant Pigmented nevus of the skin" EXACT [] synonym: "Intermediate and giant congenital naevus" EXACT [] is_obsolete: true [Term] id: DOID:4702 name: mongolian spot subset: NCIthesaurus synonym: "Mongolian Macula" EXACT [] xref: MESH:D049328 xref: NCI:C3945 xref: SNOMEDCT_US_2023_03_01:40467008 xref: UMLS_CUI:C0265985 is_a: DOID:37 ! skin disease [Term] id: DOID:4705 name: obsolete childhood brain tumor synonym: "pediatric neoplasm of brain" EXACT [] is_obsolete: true [Term] id: DOID:4706 name: infratentorial cancer alt_id: DOID:4789 def: "A brain cancer that is located_in the infratentorial region." [url:http\://en.wikipedia.org/wiki/Tentorium_cerebelli, url:http\://www.ncbi.nlm.nih.gov/mesh/68015192] subset: NCIthesaurus synonym: "brain neoplasm, Infratentorial" EXACT [] synonym: "malignant Infratentorial tumors" EXACT [] xref: ICD10CM:C71.7 xref: MESH:D015192 xref: NCI:C3139 xref: NCI:C4966 xref: UMLS_CUI:C0021432 xref: UMLS_CUI:C0751593 is_a: DOID:1319 ! brain cancer [Term] id: DOID:4707 name: cervicomedullary junction neoplasm subset: NCIthesaurus synonym: "tumor of the Cervicomedullary Junction" EXACT [] xref: NCI:C5423 xref: UMLS_CUI:C1332923 is_a: DOID:4706 ! infratentorial cancer [Term] id: DOID:4708 name: foramen magnum meningioma subset: NCIthesaurus synonym: "meningioma of the Foramen Magnum" EXACT [] xref: NCI:C5280 xref: UMLS_CUI:C1333630 is_a: DOID:3565 ! meningioma is_a: DOID:4437 ! skull base meningioma [Term] id: DOID:471 name: skin hemangioma subset: NCIthesaurus synonym: "Angioma of the skin" EXACT [] synonym: "Angiomatous naevus of skin" EXACT [] xref: NCI:C4905 xref: SNOMEDCT_US_2023_03_01:254773009 xref: UMLS_CUI:C0687140 is_a: DOID:255 ! hemangioma is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:4711 name: obsolete krebs 2 carcinoma is_obsolete: true [Term] id: DOID:4712 name: obsolete gastric mesenchymal neoplasm synonym: "mesenchymal tumor of stomach" EXACT [] is_obsolete: true [Term] id: DOID:4714 name: obsolete obstetrical pelvic hematoma alt_id: DOID:12829 synonym: "postpartum pelvic hematoma" EXACT [] is_obsolete: true [Term] id: DOID:4715 name: gastric neuroendocrine neoplasm subset: NCIthesaurus synonym: "neuroendocrine tumor of the stomach" EXACT [] xref: NCI:C5696 xref: SNOMEDCT_US_2023_03_01:721194008 xref: UMLS_CUI:C1333783 is_a: DOID:4148 ! gastrointestinal neuroendocrine benign tumor [Term] id: DOID:4716 name: malignant gastric germ cell tumor alt_id: DOID:6949 subset: NCIthesaurus synonym: "germ cell tumor of the stomach" EXACT [] synonym: "germ cell tumour of the stomach" EXACT [] synonym: "malignant gastric germ cell tumour" EXACT [] xref: NCI:C6448 xref: UMLS_CUI:C1333769 is_a: DOID:10534 ! stomach cancer [Term] id: DOID:4717 name: extragonadal germ cell cancer alt_id: DOID:5839 def: "A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary." [url:http\://tcrc.acor.org/egc.html, url:http\://www.cancer.gov/cancertopics/types/extragonadal-germ-cell] subset: NCIthesaurus synonym: "extragonadal germ cell malignant tumor" EXACT [] synonym: "neoplasm of Extragonadal germ cell" EXACT [] synonym: "tumor of extragonadal germ cell" RELATED [] xref: NCI:C3918 xref: NCI:C8881 xref: UMLS_CUI:C0262963 xref: UMLS_CUI:C1334581 is_a: DOID:2994 ! germ cell cancer [Term] id: DOID:4719 name: bone giant cell sarcoma def: "A malignant giant cell tumor that is composed_of multinucleated giant cells." [url:http\://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone] subset: NCIthesaurus synonym: "Giant cell sarcoma of the bone" EXACT [] synonym: "Giant cell tumor of bone, malignant" EXACT [] xref: NCI:C4304 xref: SNOMEDCT_US_2023_03_01:10069009 xref: UMLS_CUI:C0334552 is_a: DOID:2705 ! malignant giant cell tumor [Term] id: DOID:472 name: subglottic angioma subset: NCIthesaurus synonym: "hemangioma of the Subglottis" EXACT [] xref: NCI:C6026 xref: UMLS_CUI:C1336518 is_a: DOID:10069 ! subglottis benign neoplasm is_a: DOID:255 ! hemangioma [Term] id: DOID:4723 name: intracranial hypotension def: "A brain disease that is characterized by low pressure inside the skull, and thus in the brain tissue and cerebrospinal fluid; may occur as a result of an occult or iatrogenically caused leak of CSF into another body cavity; may result in the downward displacement of the cerebellar tonsils through the foramen magnum or Chiari malformation; has_symptom orthostatic headache; other symptoms are related to compression of cranial nerves due to brain sagging." [url:https\://en.wikipedia.org/wiki/Cerebrospinal_fluid_leak, url:https\://en.wikipedia.org/wiki/Intracranial_pressure, url:https\://en.wikipedia.org/wiki/Spontaneous_cerebrospinal_fluid_leak] xref: ICD10CM:G96.81 xref: MESH:D019585 xref: SNOMEDCT_US_2023_03_01:433691000124104 xref: UMLS_CUI:C0524812 is_a: DOID:936 ! brain disease [Term] id: DOID:4724 name: brain edema def: "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma." [url:https\://en.wikipedia.org/wiki/Cerebral_edema] synonym: "intracranial swelling" EXACT [] synonym: "wet brain" EXACT [] xref: MESH:D001929 xref: SNOMEDCT_US_2023_03_01:85974009 xref: UMLS_CUI:C1527311 is_a: DOID:936 ! brain disease [Term] id: DOID:4725 name: obsolete neck neoplasm synonym: "neck neoplasm" EXACT [] synonym: "neck neoplasm (Including All Pharyngeal Related neoplasm)" EXACT [] synonym: "neoplasm of neck (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4726 name: obsolete Anterior synechiae synonym: "Anterior synechiae (disorder)" EXACT [] synonym: "Anterior synechiae of iris" EXACT [] is_obsolete: true [Term] id: DOID:4727 name: obsolete adhesions of iris synonym: "adhesions of iris (disorder)" EXACT [] synonym: "adhesions of iris, unspecified" EXACT [] synonym: "Synechia (iris)" EXACT [] synonym: "Synechiae NOS" EXACT [] synonym: "Unspecified adhesions of iris (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4730 name: vasomotor rhinitis def: "A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food." [url:http\://en.wikipedia.org/wiki/Rhinitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vasomotor%20rhinitis] subset: NCIthesaurus xref: ICD10CM:J30.0 xref: MESH:D012223 xref: NCI:C34988 xref: SNOMEDCT_US_2023_03_01:155537009 xref: UMLS_CUI:C0035460 is_a: DOID:4483 ! rhinitis [Term] id: DOID:4731 name: atrophic rhinitis def: "A rhinitis which involves inflammation of the nose characterized by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues." [url:http\://en.wikipedia.org/wiki/atrophic_rhinitis, url:http\://www.springerlink.com/content/d2712j215h42656g/fulltext.pdf] synonym: "dry rhinitis" EXACT [] synonym: "Ozaena" EXACT [] synonym: "ozena" EXACT [] synonym: "rhinitis sicca" RELATED [] synonym: "Rhinitis, atrophic" EXACT [] xref: MESH:D012222 xref: SNOMEDCT_US_2023_03_01:28111002 xref: UMLS_CUI:C0035459 is_a: DOID:4483 ! rhinitis [Term] id: DOID:4734 name: calciphylaxis subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5980 xref: MESH:D002115 xref: NCI:C84607 xref: SNOMEDCT_US_2023_03_01:237900002 xref: UMLS_CUI:C0006666 is_a: DOID:182 ! calcinosis [Term] id: DOID:4737 name: somatoform disorder alt_id: DOID:10133 alt_id: DOID:144 def: "A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate." [url:http\://en.wikipedia.org/wiki/Somatoform_disorder] subset: DO_RAD_slim subset: NCIthesaurus synonym: "physiological malfunction arising from mental factor" EXACT [] synonym: "psychophysiologic disorder" EXACT [] synonym: "psychosomatic disorder" EXACT [] xref: ICD10CM:F45 xref: ICD10CM:F45.0 xref: ICD9CM:300.8 xref: ICD9CM:300.81 xref: MESH:D013001 xref: NCI:C34956 xref: SNOMEDCT_US_2023_03_01:192430009 xref: SNOMEDCT_US_2023_03_01:60368009 xref: UMLS_CUI:C0037650 xref: UMLS_CUI:C0520482 is_a: DOID:150 ! disease of mental health [Term] id: DOID:4738 name: obsolete Iris or ciliary body disorder is_obsolete: true [Term] id: DOID:4739 name: testicular Brenner tumor def: "A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C39953, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5245059/] subset: NCIthesaurus xref: NCI:C39953 xref: UMLS_CUI:C1515281 is_a: DOID:2998 ! testicular cancer [Term] id: DOID:474 name: histiocytoid hemangioma subset: NCIthesaurus synonym: "Angiolymphoid hyperplasia with eosinophilia" EXACT [] synonym: "epithelioid haemangioma" EXACT [] synonym: "epithelioid hemangioma" EXACT [] xref: MESH:D006391 xref: NCI:C4298 xref: SNOMEDCT_US_2023_03_01:253054009 xref: UMLS_CUI:C0205788 is_a: DOID:255 ! hemangioma [Term] id: DOID:4742 name: obsolete mixed embryonal carcinoma and teratoma of the testis synonym: "mixed Embryonal carcinoma and teratoma of testis" EXACT [] is_obsolete: true [Term] id: DOID:4743 name: mixed testicular germ cell tumor def: "A mixed germ cell cancer that is located_in the testis." [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor] subset: DO_cancer_slim subset: NCIthesaurus synonym: "mixed germ cell tumor of testis" EXACT [] synonym: "mixed germ cell tumour of testis" EXACT [] synonym: "mixed testicular germ cell tumour" EXACT [] xref: NCI:C6347 xref: UMLS_CUI:C1336720 is_a: DOID:5556 ! testicular malignant germ cell cancer [Term] id: DOID:4744 name: placenta accreta def: "A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium." [url:http\://en.wikipedia.org/wiki/Placenta_accreta] subset: NCIthesaurus xref: ICD10CM:O43.21 xref: MESH:D010921 xref: NCI:C26856 xref: SNOMEDCT_US_2023_03_01:70129008 xref: UMLS_CUI:C0032044 is_a: DOID:780 ! placenta disease [Term] id: DOID:4746 name: obsolete olfaction disorder synonym: "disorder of smell (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4748 name: obsolete childhood supratentorial neoplasm synonym: "pediatric Supratentorial tumor" EXACT [] is_obsolete: true [Term] id: DOID:4749 name: middle cranial fossa meningioma subset: NCIthesaurus synonym: "meningioma of the middle Cranial Fossa" EXACT [] xref: NCI:C5586 xref: UMLS_CUI:C1334757 is_a: DOID:3565 ! meningioma [Term] id: DOID:4751 name: striatonigral degeneration comment: OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus xref: ICD10CM:G23.2 xref: MESH:D020955 xref: MIM:271930 xref: MIM:500003 xref: MIM:609161 xref: NCI:C125695 xref: SNOMEDCT_US_2023_03_01:29618004 xref: UMLS_CUI:C0270733 is_a: DOID:4752 ! multiple system atrophy [Term] id: DOID:4752 name: multiple system atrophy alt_id: DOID:11510 comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Shy-Drager syndrome" EXACT [] xref: GARD:7079 xref: MESH:D012791 xref: MESH:D019578 xref: NCI:C84909 xref: SNOMEDCT_US_2023_03_01:16576004 xref: SNOMEDCT_US_2023_03_01:230297002 xref: UMLS_CUI:C0037019 xref: UMLS_CUI:C0393571 is_a: DOID:0050890 ! synucleinopathy [Term] id: DOID:4754 name: obsolete Dictyocaulus infectious disease def: "A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus." [url:http\://en.wikipedia.org/wiki/Dictyocaulus] synonym: "Infection by Dictyocaulus (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4756 name: testicular Leydig cell tumor alt_id: DOID:6021 subset: NCIthesaurus synonym: "testicular Leydig cell neoplasm" EXACT [] xref: NCI:C39942 xref: NCI:C6356 xref: SNOMEDCT_US_2023_03_01:67871000119105 xref: UMLS_CUI:C0863027 xref: UMLS_CUI:C1515288 is_a: DOID:4757 ! testicular sex cord-stromal neoplasm [Term] id: DOID:4757 name: testicular sex cord-stromal neoplasm def: "A sex cord-gonadal stromal tumor that is located_in the testis." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C39948] subset: NCIthesaurus synonym: "Sex Cord-Stromal tumor of testis" EXACT [] xref: NCI:C39948 xref: UMLS_CUI:C1515289 is_a: DOID:192 ! sex cord-gonadal stromal tumor [Term] id: DOID:4758 name: obsolete peripheral anterior synechiae synonym: "Goniosynechiae" EXACT [] synonym: "Goniosynechiae (disorder)" EXACT [] synonym: "peripheral anterior synechiae (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:476 name: breast hemangioma def: "A breast benign neoplasm that is characterized by a collection of excess blood vessels." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22434703] subset: NCIthesaurus synonym: "Angioma of the breast" EXACT [] synonym: "hemangioma of breast" EXACT [] xref: NCI:C5353 xref: UMLS_CUI:C0853715 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:4760 name: obsolete malignant catarrh def: "A viral infectious disease that results_in infection in cattle and other ruminants, has_material_basis_in Macavirus and has_symptom fever, has_symptom bilateral corneal opacity, and has_symptom oculonasal discharge." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/malignant_catarrhal_fever.pdf] synonym: "Gangrenous Coryza" EXACT [] synonym: "malignant catarrhal fever" EXACT [] synonym: "Snotsiekte" EXACT [] is_obsolete: true [Term] id: DOID:4762 name: vasculogenic impotence def: "An impotence that is characterized by an inability to achieve and maintain an erection due to defects in the arterial blood flow to the penis or a defect in venous occlusive function allowing blood drainage from the erectile tissue." [url:https\://pubmed.ncbi.nlm.nih.gov/33227246/] xref: MESH:D018783 xref: UMLS_CUI:C0243000 is_a: DOID:1875 ! impotence [Term] id: DOID:4765 name: pulmonary blastoma def: "A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children." [url:http\://www.cancer.gov/dictionary/?CdrID=446557] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Blastoma of lung" EXACT [] xref: ICDO:8972/3 xref: MESH:D018202 xref: NCI:C3732 xref: SNOMEDCT_US_2023_03_01:189815007 xref: UMLS_CUI:C0206629 is_a: DOID:0070003 ! blastoma is_a: DOID:1324 ! lung cancer is_a: DOID:1532 ! pleural disease [Term] id: DOID:4766 name: embryoma def: "A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells." [url:http\://en.wikipedia.org/wiki/Embryoma] subset: NCIthesaurus synonym: "Blastoma" EXACT [] xref: NCI:C8997 xref: SNOMEDCT_US_2023_03_01:86049000 xref: UMLS_CUI:C0936282 is_a: DOID:688 ! embryonal cancer [Term] id: DOID:4767 name: classic pulmonary blastoma subset: NCIthesaurus xref: NCI:C36054 xref: UMLS_CUI:C1332556 is_a: DOID:4765 ! pulmonary blastoma [Term] id: DOID:4768 name: epithelial predominant pulmonary blastoma subset: NCIthesaurus xref: NCI:C36053 xref: UMLS_CUI:C1333420 is_a: DOID:4765 ! pulmonary blastoma [Term] id: DOID:4769 name: pleuropulmonary blastoma def: "A pulmonary blastoma that derives_from the lung or pleural cavity." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30480950] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:8757 xref: ICDO:8973/3 xref: MESH:C537516 xref: NCI:C5669 xref: ORDO:64742 xref: SNOMEDCT_US_2023_03_01:707670009 xref: UMLS_CUI:C1266144 is_a: DOID:4765 ! pulmonary blastoma [Term] id: DOID:4772 name: obsolete mesoblastic nephroma def: "A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life." [url:http\://en.wikipedia.org/wiki/Mesoblastic_nephroma] is_obsolete: true [Term] id: DOID:4773 name: congenital mesoblastic nephroma alt_id: DOID:4772 def: "A kidney cancer that is characterized by the presence of fibroblastic cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588847/] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:1493 xref: MESH:D018201 xref: NCI:C6569 xref: UMLS_CUI:C1332965 is_a: DOID:0080015 ! physical disorder is_a: DOID:263 ! kidney cancer [Term] id: DOID:4775 name: obsolete feline acquired immunodeficiency syndrome def: "A viral infectious disease that results_in infection in domesticated housecats, has_material_basis_in Feline immunodeficiency virus, which is transmitted_by contact with the infected cat's saliva during deep bite wounds, and transmitted_by congenital method. The virus attacks the immune system infecting CD4+ and CD8+ T lymphocytes, B lymphocytes, and macrophages. Some of the symptoms are loss of weight, malaise, pyrexia, anemia, gastroenteritis, gingivitis, stomatitis, diarrhea, infections of the skin, eyes, urinary tract, respiratory tract, and diseases of the nervous system." [url:http\://en.wikipedia.org/wiki/Feline_acquired_immunodeficiency_syndrome#Transmission, url:http\://www.scumdoctor.com/vaccination/immune-deficiency/Symptoms-Of-Feline-Acquired-Immunodeficiency-Syndrome.html] is_obsolete: true [Term] id: DOID:4776 name: rapidly progressive glomerulonephritis subset: NCIthesaurus xref: ICD10CM:N01 xref: NCI:C35264 xref: SNOMEDCT_US_2023_03_01:45406000 xref: UMLS_CUI:C0221239 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:4777 name: exudative glomerulonephritis subset: NCIthesaurus xref: NCI:C35706 xref: SNOMEDCT_US_2023_03_01:1162266005 xref: UMLS_CUI:C0546345 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:4778 name: proliferative glomerulonephritis subset: NCIthesaurus xref: NCI:C35281 xref: SNOMEDCT_US_2023_03_01:441815006 xref: UMLS_CUI:C0235618 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:4779 name: focal embolic glomerulonephritis subset: NCIthesaurus xref: NCI:C35707 xref: UMLS_CUI:C0238143 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:478 name: obsolete breast vascular neoplasm synonym: "vascular tumor of breast" EXACT [] is_obsolete: true [Term] id: DOID:4780 name: anti-basement membrane glomerulonephritis def: "A Goodpasture syndrome that is characterized by damage to only kidney capillaries." [url:https\://unckidneycenter.org/kidneyhealthlibrary/glomerular-disease/anti-gbm-disease/] subset: NCIthesaurus synonym: "anti-GBM glomerulonephritis" EXACT [] xref: NCI:C35798 xref: UMLS_CUI:C1332309 is_a: DOID:9808 ! Goodpasture syndrome [Term] id: DOID:4781 name: diffuse glomerulonephritis subset: NCIthesaurus xref: NCI:C35799 xref: UMLS_CUI:C0859036 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:4782 name: subacute glomerulonephritis subset: NCIthesaurus xref: NCI:C35801 xref: SNOMEDCT_US_2023_03_01:123609007 xref: UMLS_CUI:C1263744 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:4783 name: mesangial proliferative glomerulonephritis subset: DO_rare_slim subset: NCIthesaurus xref: GARD:9580 xref: NCI:C35445 xref: SNOMEDCT_US_2023_03_01:35546006 xref: UMLS_CUI:C0221238 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:4784 name: immune-complex glomerulonephritis subset: NCIthesaurus synonym: "Immune Complex Glomerulonephritis" EXACT [] xref: NCI:C35800 xref: SNOMEDCT_US_2023_03_01:123752003 xref: UMLS_CUI:C0744421 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:4786 name: obsolete primitive neuroectodermal tumor with Leptomeningeal Spread is_obsolete: true [Term] id: DOID:4787 name: cerebellopontine angle primitive neuroectodermal tumor subset: NCIthesaurus synonym: "Cerebellopontine Angle PNET" EXACT [] xref: NCI:C5436 xref: UMLS_CUI:C1332904 is_a: DOID:3200 ! cerebellopontine angle tumor [Term] id: DOID:4788 name: intracranial primitive neuroectodermal tumor subset: NCIthesaurus synonym: "intracranial PNET" EXACT [] xref: NCI:C5817 xref: UMLS_CUI:C1334246 is_a: DOID:0060103 ! central nervous system embryonal tumor [Term] id: DOID:479 name: angiokeratoma alt_id: DOID:665 subset: DO_cancer_slim subset: NCIthesaurus synonym: "Angiokeratoma of skin" EXACT [] synonym: "Cutaneous Angiokeratoma" EXACT [] synonym: "skin angiokeratoma" EXACT [] xref: ICDO:9141/0 xref: MESH:D000794 xref: NCI:C2874 xref: NCI:C4488 xref: SNOMEDCT_US_2023_03_01:254788004 xref: SNOMEDCT_US_2023_03_01:26810009 xref: UMLS_CUI:C0002985 xref: UMLS_CUI:C0346075 is_a: DOID:471 ! skin hemangioma [Term] id: DOID:4790 name: medulloepithelioma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Diktyoma, malignant" EXACT [] synonym: "Medulloepithelioma, central nervous system" EXACT [] xref: ICDO:9501/3 xref: MESH:D018242 xref: NCI:C66808 xref: SNOMEDCT_US_2023_03_01:715903004 xref: UMLS_CUI:C0334596 is_a: DOID:0060103 ! central nervous system embryonal tumor [Term] id: DOID:4791 name: supratentorial primitive neuroectodermal tumor subset: DO_rare_slim subset: NCIthesaurus synonym: "Supratentorial PNET" EXACT [] xref: GARD:7366 xref: NCI:C6968 xref: SNOMEDCT_US_2023_03_01:699318007 xref: UMLS_CUI:C1336538 is_a: DOID:1659 ! supratentorial cancer [Term] id: DOID:4794 name: obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered is_obsolete: true [Term] id: DOID:4795 name: GM2 gangliosidosis, AB variant def: "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex." [url:https\://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Tay-Sachs disease AB variant" EXACT [] synonym: "Tay-Sachs disease, variant AB" EXACT [] xref: MESH:D049290 xref: MIM:272750 xref: NCI:C133084 xref: SNOMEDCT_US_2023_03_01:71253000 xref: UMLS_CUI:C0268275 is_a: DOID:3321 ! GM2 gangliosidosis [Term] id: DOID:4796 name: space motion sickness xref: MESH:D018489 xref: SNOMEDCT_US_2023_03_01:21162009 xref: UMLS_CUI:C0242700 is_a: DOID:2951 ! motion sickness [Term] id: DOID:4797 name: SM-AHNMD subset: NCIthesaurus synonym: "systemic mastocytosis with associated clonal haematological non-mast cell lineage disease" EXACT [] synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease" EXACT [] xref: NCI:C9284 xref: SNOMEDCT_US_2023_03_01:397357000 xref: UMLS_CUI:C1301365 is_a: DOID:349 ! systemic mastocytosis [Term] id: DOID:4798 name: aggressive systemic mastocytosis subset: NCIthesaurus synonym: "ASM" EXACT OMO:0003012 [] synonym: "Lymphadenopathic mastocytosis with eosinophilia" EXACT [] xref: ICD10CM:C96.21 xref: MESH:D034721 xref: NCI:C9285 xref: SNOMEDCT_US_2023_03_01:716655008 xref: UMLS_CUI:C1112486 is_a: DOID:349 ! systemic mastocytosis [Term] id: DOID:4799 name: obsolete AIDS-related idiopathic thrombocytopenic purpura is_obsolete: true [Term] id: DOID:48 name: male reproductive system disease def: "A reproductive system disease that affects male reproductive organs." [url:https\://www.dmu.edu/medterms/male-reproductive-system/male-reproductive-system-diseases/] xref: ICD10CM:N50.9 xref: ICD9CM:608.9 xref: MESH:D005832 xref: SNOMEDCT_US_2023_03_01:64557000 xref: UMLS_CUI:C0017412 is_a: DOID:15 ! reproductive system disease [Term] id: DOID:480 name: movement disease def: "A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity." [url:https\://en.wikipedia.org/wiki/Movement_disorders] subset: NCIthesaurus xref: MESH:D009069 xref: NCI:C116757 xref: SNOMEDCT_US_2023_03_01:60342002 xref: UMLS_CUI:C0026650 is_a: DOID:936 ! brain disease [Term] id: DOID:4800 name: obsolete iris vascular disorder is_obsolete: true [Term] id: DOID:4804 name: obsolete border disease def: "A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation." [url:http\://www.oie.int/eng/Normes/mmanual/2008/pdf/2.07.01_BORDER_DIS.pdf] synonym: "hairy shaker disease" EXACT [] is_obsolete: true [Term] id: DOID:4807 name: obsolete swine vesicular disease def: "An Enterovirus infectious disease that results_in infection, has_material_basis_in Swine vesicular disease virus, which is transmitted_by ingestion of contaminated food, or transmitted_by contact with an infected animal. The infection results_in_formation_of vesicles in the mouth, snout and feet, and has_symptom lameness." [url:http\://en.wikipedia.org/wiki/Swine_vesicular_disease] is_obsolete: true [Term] id: DOID:4808 name: obsolete Enterovirus infectious disease def: "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food." [url:http\://www.idph.state.il.us/public/hb/hbentero.htm] is_obsolete: true [Term] id: DOID:4809 name: obsolete enzootic porcine encephalomyelitis def: "A viral infectious disease that results_in inflammation located_in brain and located_in spinal cord of pigs, has_material_basis_in Porcine teschovirus, which is transmitted_by ingestion of contaminated food, and transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom anorexia, has_symptom depression, has_symptom incoordination, has_symptom paralysis, has_symptom muscle tremors, has_symptom stiffness, has_symptom nystagmus, has_symptom seizures, and has_symptom loss of the voice." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/enterovirus_encephalomyelitis.pdf] synonym: "Poliomyelitis Suum" EXACT [] synonym: "Porcine polioencephalomyelitis" EXACT [] synonym: "Talfan disease" EXACT [] synonym: "Teschen disease" EXACT [] is_obsolete: true [Term] id: DOID:481 name: obsolete central nervous system hereditary degenerative disease xref: UMLS_CUI:C0014887 is_obsolete: true [Term] id: DOID:4810 name: cerebrotendinous xanthomatosis def: "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma." [url:http\://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1409/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Cholestanol storage disease" EXACT [] xref: GARD:5622 xref: MESH:D019294 xref: MIM:213700 xref: NCI:C84628 xref: ORDO:909 xref: SNOMEDCT_US_2023_03_01:63246000 xref: UMLS_CUI:C0238052 is_a: DOID:3345 ! xanthomatosis [Term] id: DOID:4812 name: adult brainstem gliosarcoma subset: NCIthesaurus synonym: "adult brain stem Gliosarcoma" EXACT [] xref: NCI:C9370 xref: UMLS_CUI:C1377914 is_a: DOID:4813 ! adult brain stem glioma [Term] id: DOID:4813 name: adult brain stem glioma def: "A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells." [url:https\://en.wikipedia.org/wiki/Brainstem_glioma] subset: NCIthesaurus synonym: "adult Brainstem Neuroglial tumor" EXACT [] xref: NCI:C9091 xref: UMLS_CUI:C0278873 is_a: DOID:4202 ! brain stem glioma [Term] id: DOID:4814 name: obsolete ganglioneuroma of the retroperitoneum synonym: "Ganglioneuroma of Retroperitoneum" EXACT [] is_obsolete: true [Term] id: DOID:4816 name: obsolete maturing ganglioneuroma is_obsolete: true [Term] id: DOID:4817 name: ganglioneuroma def: "An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum." [url:https\://medlineplus.gov/ency/article/001437.htm] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9490/0 xref: MESH:D005729 xref: NCI:C3049 xref: NCI:C42065 xref: SNOMEDCT_US_2023_03_01:189929007 xref: UMLS_CUI:C0017075 xref: UMLS_CUI:C1513025 is_a: DOID:0080321 ! autonomic nervous system benign neoplasm [Term] id: DOID:4818 name: obsolete lung occult non-small cell carcinoma synonym: "occult non-small cell carcinoma of lung" RELATED [] synonym: "Occult Non-small cell carcinoma of the lung" EXACT [] is_obsolete: true [Term] id: DOID:4819 name: obsolete lung occult carcinoma synonym: "occult carcinoma of lung" RELATED [] synonym: "Occult carcinoma of the lung" EXACT [] is_obsolete: true [Term] id: DOID:482 name: hemangioma of peripheral nerve subset: NCIthesaurus xref: NCI:C27507 xref: UMLS_CUI:C1333956 is_a: DOID:0080320 ! peripheral nervous system benign neoplasm is_a: DOID:255 ! hemangioma is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:4828 name: obsolete metastatic lung carcinoma synonym: "Unspecified stage IV carcinoma of lung" EXACT [] is_obsolete: true [Term] id: DOID:4829 name: adenosquamous lung carcinoma def: "An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells." [url:https\://en.wikipedia.org/wiki/Adenosquamous_lung_carcinoma] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C9133 xref: SNOMEDCT_US_2023_03_01:1260042002 xref: UMLS_CUI:C0279557 is_a: DOID:1324 ! lung cancer is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:483 name: cavernous hemangioma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Cavernoma" EXACT [] synonym: "Cavernous haemangioma" EXACT [] xref: ICD10CM:D18.0 xref: ICDO:9121/0 xref: MESH:D006392 xref: NCI:C3086 xref: SNOMEDCT_US_2023_03_01:67668002 xref: UMLS_CUI:C0018920 is_a: DOID:484 ! vascular hemostatic disease [Term] id: DOID:4830 name: adenosquamous carcinoma def: "A squamous cell carcinoma that contains squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC476239/] subset: NCIthesaurus synonym: "Adenosquamous cell carcinoma" EXACT [] synonym: "mixed adenocarcinoma and squamous carcinoma" EXACT [] xref: ICDO:8560/3 xref: MESH:D018196 xref: NCI:C3727 xref: SNOMEDCT_US_2023_03_01:403902008 xref: UMLS_CUI:C0206623 is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:4831 name: obsolete spleen mast cell malignancy synonym: "malignant mast cell tumors involving spleen" EXACT [] synonym: "Mast cell malignancy of spleen (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4832 name: obsolete non small cell lung cancer recurrent synonym: "recurrent NSCLC" EXACT [] is_obsolete: true [Term] id: DOID:4833 name: obsolete recurrent lung carcinoma synonym: "relapsed Unspecified carcinoma of the lung" EXACT [] is_obsolete: true [Term] id: DOID:4837 name: Gorham's disease def: "A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones." [url:http\://en.wikipedia.org/wiki/Gorham%27s_disease, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Gorham%27s%20Disease] subset: DO_rare_slim synonym: "Disappearing bone disease" EXACT [] synonym: "essential osteolysis" EXACT [] synonym: "Gorham disease" EXACT [] synonym: "Gorham-Stout Syndrome" RELATED [] synonym: "massive osteolysis" EXACT [] synonym: "phantom bone disease" EXACT [] xref: GARD:6542 xref: MESH:D010015 xref: SNOMEDCT_US_2023_03_01:240161003 xref: UMLS_CUI:C0029436 is_a: DOID:225 ! syndrome [Term] id: DOID:4838 name: myoepithelial carcinoma def: "A carcinoma that derives_from myoepithelial cells." [url:http\://www.diagnosticpathology.org/content/3/1/7] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10558 xref: ICDO:8982/3 xref: NCI:C7596 xref: SNOMEDCT_US_2023_03_01:24292006 xref: UMLS_CUI:C0334699 is_a: DOID:305 ! carcinoma [Term] id: DOID:4839 name: sebaceous adenocarcinoma subset: NCIthesaurus synonym: "adenocarcinoma of the Sebaceous gland" EXACT [] synonym: "Sebaceous carcinoma" EXACT [] xref: MESH:D018266 xref: NCI:C40310 xref: SNOMEDCT_US_2023_03_01:54734006 xref: UMLS_CUI:C0206684 is_a: DOID:4840 ! sebaceous carcinoma [Term] id: DOID:484 name: vascular hemostatic disease xref: MESH:D020141 xref: SNOMEDCT_US_2023_03_01:21112004 xref: UMLS_CUI:C0600502 is_a: DOID:2213 ! hemorrhagic disease [Term] id: DOID:4840 name: sebaceous carcinoma def: "A skin cancer that arises from the sebaceous glands." [url:https\://www.mayoclinic.org/diseases-conditions/sebaceous-carcinoma/cdc-20352957] subset: NCIthesaurus synonym: "malignant neoplasm of sebaceous gland" EXACT [] synonym: "Malignant Sebaceous Neoplasm" EXACT [] synonym: "malignant Sebaceous tumor" EXACT [] xref: ICD10CM:C44 xref: ICDO:8410/3 xref: NCI:C8409 xref: SNOMEDCT_US_2023_03_01:188083002 xref: UMLS_CUI:C1382026 is_a: DOID:305 ! carcinoma is_a: DOID:4159 ! skin cancer is_a: DOID:9098 ! sebaceous gland disease [Term] id: DOID:4841 name: obsolete malignant tumor of epidermal appendage synonym: "malignant skin Appendage neoplasm" EXACT [] synonym: "malignant tumor of epidermal appendage (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4843 name: subependymal glioma subset: DO_cancer_slim subset: NCIthesaurus synonym: "mixed subependymoma-ependymoma" EXACT [] synonym: "Subependymal astrocytoma" EXACT [] synonym: "WHO grade I Ependymal tumor" EXACT [] xref: ICDO:9383/1 xref: MESH:D018315 xref: NCI:C3795 xref: SNOMEDCT_US_2023_03_01:4553004 xref: UMLS_CUI:C0206725 is_a: DOID:4844 ! benign ependymoma [Term] id: DOID:4844 name: benign ependymoma subset: NCIthesaurus synonym: "epithelial ependymoma" EXACT [] synonym: "WHO grade II Ependymal tumor" EXACT [] xref: MESH:D004806 xref: NCI:C3017 xref: SNOMEDCT_US_2023_03_01:443643007 xref: UMLS_CUI:C0014474 is_a: DOID:0080829 ! low grade glioma [Term] id: DOID:4845 name: pilomyxoid astrocytoma def: "A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies." [url:https\://pubmed.ncbi.nlm.nih.gov/30945015/, url:https\://radiopaedia.org/articles/pilomyxoid-astrocytoma?lang=us] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: ICDO:9425/3 xref: NCI:C40315 xref: SNOMEDCT_US_2023_03_01:388600004 xref: UMLS_CUI:C1519086 is_a: DOID:4851 ! pilocytic astrocytoma [Term] id: DOID:4846 name: cauda equina intradural extramedullary astrocytoma subset: NCIthesaurus synonym: "Intradural Extramedullary Astrocytic tumor of the Cauda Equina" EXACT [] xref: NCI:C5408 xref: UMLS_CUI:C1334254 is_a: DOID:4847 ! cauda equina neoplasm [Term] id: DOID:4847 name: cauda equina neoplasm subset: NCIthesaurus synonym: "tumor of the Cauda Equina" EXACT [] xref: NCI:C5479 xref: SNOMEDCT_US_2023_03_01:126963001 xref: UMLS_CUI:C1263892 is_a: DOID:5612 ! spinal cancer [Term] id: DOID:4848 name: cerebellar astrocytoma subset: NCIthesaurus synonym: "astrocytoma of Cerebellum" EXACT [] xref: NCI:C9475 xref: UMLS_CUI:C0740480 is_a: DOID:3070 ! high grade glioma is_a: DOID:4205 ! cerebellum cancer [Term] id: DOID:4850 name: obsolete glioma of visual pathway synonym: "glioma of the optic tract" EXACT [] is_obsolete: true [Term] id: DOID:4851 name: pilocytic astrocytoma def: "A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain." [url:http\://en.wikipedia.org/wiki/Pilocytic_astrocytoma, url:http\://www.cancer.gov/dictionary?CdrID=44341] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "grade I Astrocytic tumor" EXACT [] synonym: "Piloid astrocytoma" EXACT [] xref: GARD:9808 xref: ICDO:9421/1 xref: MESH:D001254 xref: NCI:C4047 xref: SNOMEDCT_US_2023_03_01:67859002 xref: UMLS_CUI:C0334583 is_a: DOID:0080830 ! childhood low-grade glioma [Term] id: DOID:4852 name: pleomorphic xanthoastrocytoma def: "A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies." [url:https\://www.cancer.gov/rare-brain-spine-tumor/tumors/pleomorphic-xanthroastrocytoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Pleomorphic Xantho-astrocytoma" EXACT [] xref: ICDO:9424/3 xref: NCI:C4323 xref: SNOMEDCT_US_2023_03_01:189924002 xref: UMLS_CUI:C0334586 is_a: DOID:0080829 ! low grade glioma [Term] id: DOID:4853 name: pilocytic astrocytoma of cerebellum subset: NCIthesaurus synonym: "Cerebellar Pilocytic astrocytoma" EXACT [] xref: NCI:C6809 xref: SNOMEDCT_US_2023_03_01:277507004 xref: UMLS_CUI:C0349620 is_a: DOID:4848 ! cerebellar astrocytoma [Term] id: DOID:4855 name: diencephalic astrocytoma subset: NCIthesaurus synonym: "astrocytoma of Diencephalon" EXACT [] xref: NCI:C5128 xref: UMLS_CUI:C1333284 is_a: DOID:3070 ! high grade glioma is_a: DOID:3843 ! diencephalic neoplasm [Term] id: DOID:4856 name: gliofibroma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9442/1 xref: NCI:C5419 xref: SNOMEDCT_US_2023_03_01:128909006 xref: UMLS_CUI:C1266178 is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:4857 name: diffuse astrocytoma def: "A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures." [url:https\://braintumorcenter.ucsf.edu/condition/diffuse-astrocytoma-grade-ii] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Diffuse astrocytoma, low grade" EXACT [] synonym: "WHO grade II astrocytoma" EXACT [] xref: NCI:C7173 is_a: DOID:0080829 ! low grade glioma [Term] id: DOID:4858 name: pineal gland astrocytoma subset: NCIthesaurus synonym: "Pineal Astrocytic tumor" EXACT [] xref: NCI:C8274 xref: UMLS_CUI:C0280795 is_a: DOID:3070 ! high grade glioma is_a: DOID:5032 ! pineal gland cancer [Term] id: DOID:486 name: glomeruloid hemangioma subset: NCIthesaurus xref: NCI:C27505 xref: SNOMEDCT_US_2023_03_01:403976007 xref: UMLS_CUI:C1304511 is_a: DOID:255 ! hemangioma [Term] id: DOID:4860 name: brain stem astrocytic neoplasm def: "A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes." [url:https\://en.wikipedia.org/wiki/Astrocytoma] subset: NCIthesaurus synonym: "Brainstem astrocytoma" EXACT [] xref: NCI:C7445 xref: SNOMEDCT_US_2023_03_01:107581000119103 xref: UMLS_CUI:C1332608 is_a: DOID:4202 ! brain stem glioma [Term] id: DOID:4863 name: spinal cord astrocytoma subset: NCIthesaurus synonym: "astrocytoma of spinal cord" EXACT [] synonym: "Spinal astrocytoma" EXACT [] xref: NCI:C4641 xref: SNOMEDCT_US_2023_03_01:254948003 xref: UMLS_CUI:C0349540 is_a: DOID:3185 ! spinal cord glioma [Term] id: DOID:4864 name: obsolete Rubella virus infectious disease def: "A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method." [url:http\://www.ictvdb.org/ICTVdB/00.073.0.02.htm] synonym: "Rubivirus infectious disease" EXACT [] is_obsolete: true [Term] id: DOID:4865 name: obsolete Togaviridae infectious disease def: "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses." [url:http\://en.wikipedia.org/wiki/Togaviridae] is_obsolete: true [Term] id: DOID:4866 name: salivary gland adenoid cystic carcinoma def: "A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes." [url:https\://oralcancerfoundation.org/facts/rare/adenoid-cystic-carcinoma/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Cylindroma" EXACT [] xref: MESH:D003528 xref: NCI:C2970 xref: SNOMEDCT_US_2023_03_01:11671000 xref: UMLS_CUI:C0010606 is_a: DOID:0050904 ! salivary gland carcinoma [Term] id: DOID:4867 name: cervical adenoid cystic carcinoma def: "A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26090035, url:https\://www.ncbi.nlm.nih.gov/pubmed/28348909] subset: NCIthesaurus synonym: "adenoid cystic carcinoma of the Cervix Uteri" EXACT [] xref: NCI:C6346 xref: SNOMEDCT_US_2023_03_01:763064007 xref: UMLS_CUI:C1332911 is_a: DOID:2893 ! cervix carcinoma [Term] id: DOID:4868 name: prostate adenoid cystic carcinoma subset: NCIthesaurus synonym: "adenoid cystic carcinoma of prostate" RELATED [] synonym: "adenoid cystic carcinoma of the prostate" EXACT [] xref: NCI:C5539 xref: UMLS_CUI:C1335502 is_a: DOID:10286 ! prostate carcinoma [Term] id: DOID:4869 name: laryngeal adenoid cystic carcinoma subset: NCIthesaurus synonym: "adenoid cystic carcinoma of Larynx" EXACT [] xref: NCI:C9462 xref: UMLS_CUI:C1334368 is_a: DOID:2600 ! laryngeal carcinoma [Term] id: DOID:4870 name: lacrimal gland adenoid cystic carcinoma subset: NCIthesaurus synonym: "adenoid cystic carcinoma of lacrimal gland" RELATED [] xref: NCI:C4540 xref: SNOMEDCT_US_2023_03_01:254987003 xref: UMLS_CUI:C0346340 is_a: DOID:298 ! lacrimal gland adenocarcinoma [Term] id: DOID:4871 name: cutaneous adenocystic carcinoma synonym: "adenoid cystic carcinoma of the skin" EXACT [] synonym: "adenoid cystic eccrine carcinoma" EXACT [] synonym: "adenoid cystic eccrine carcinoma of skin" EXACT [] xref: SNOMEDCT_US_2023_03_01:399968001 xref: UMLS_CUI:C0346017 is_a: DOID:3451 ! skin carcinoma [Term] id: DOID:4872 name: lung adenoid cystic carcinoma subset: NCIthesaurus synonym: "adenoid cystic carcinoma of lung" RELATED [] synonym: "pulmonary adenoid cystic carcinoma" EXACT [] xref: NCI:C5666 xref: SNOMEDCT_US_2023_03_01:1260019009 xref: UMLS_CUI:C1334439 is_a: DOID:3905 ! lung carcinoma [Term] id: DOID:4873 name: anterior horn cell disease def: "A motor neuron disease that is characterized by lower motor neuron signs of wasting, weakness, and loss of reflexes and that is located in the anterior horn of the spinal cord that contains the motor neurons responsible for body muscles." [url:https\://academic.oup.com/book/25268/chapter-abstract/189870421?redirectedFrom=fulltext, url:https\://aimdrjournal.com/wp-content/uploads/2021/08/PE6_CR_PM.pdf, url:https\://www.neurores.org/index.php/neurores/article/view/407/409] xref: ICD9CM:335 xref: SNOMEDCT_US_2024_03_01:85672005 xref: UMLS_CUI:C0154681 is_a: DOID:231 ! motor neuron disease [Term] id: DOID:4875 name: trachea adenoid cystic carcinoma subset: NCIthesaurus synonym: "Tracheal adenoid cystic carcinoma" EXACT [] xref: NCI:C6051 xref: SNOMEDCT_US_2023_03_01:254619006 xref: UMLS_CUI:C0345945 is_a: DOID:4876 ! trachea carcinoma [Term] id: DOID:4876 name: trachea carcinoma def: "A tracheal cancer that effects the airway that leads from the larynx to the bronchi." [url:http\://nci.nih.gov/dictionary/?CdrID=46623] synonym: "carcinoma of the trachea" RELATED [] synonym: "Pancoast's tumor" EXACT [] xref: SNOMEDCT_US_2023_03_01:154486000 xref: UMLS_CUI:C0848879 is_a: DOID:11920 ! tracheal cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:4877 name: breast adenoid cystic carcinoma def: "A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266822/] subset: NCIthesaurus synonym: "adenoid cystic carcinoma of breast" RELATED [] synonym: "Mammary Adenocystic carcinoma" EXACT [] xref: NCI:C5130 xref: UMLS_CUI:C1332167 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:4878 name: esophageal adenoid cystic carcinoma def: "An esophageal carcinoma that derives_from epithelial cells of the salivary gland." [url:http\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma] subset: NCIthesaurus synonym: "adenoid cystic carcinoma, esophagus" EXACT [] xref: NCI:C5342 xref: UMLS_CUI:C1333441 is_a: DOID:1107 ! esophageal carcinoma [Term] id: DOID:4879 name: Bartholin's gland adenoid cystic carcinoma def: "A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17488169] subset: NCIthesaurus synonym: "Bartholin gland adenoid cystic carcinoma" EXACT [] xref: NCI:C40295 xref: UMLS_CUI:C1511047 is_a: DOID:3999 ! Bartholin's gland carcinoma [Term] id: DOID:488 name: obsolete malignant bone vascular tumor synonym: "bone vascular neoplasm" EXACT [] synonym: "osseous vascular tumor" EXACT [] is_obsolete: true [Term] id: DOID:4880 name: kidney clear cell sarcoma alt_id: DOID:7745 def: "A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope." [url:http\://en.wikipedia.org/wiki/Clear-cell_sarcoma_of_the_kidney, url:http\://www.cancer.gov/dictionary?CdrID=44997] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "childhood kidney clear cell sarcoma" EXACT [] synonym: "Clear cell sarcoma of kidney" EXACT [] synonym: "renal Clear cell sarcoma" EXACT [] xref: NCI:C4264 xref: ORDO:457246 xref: SNOMEDCT_US_2023_03_01:24007003 xref: UMLS_CUI:C0334488 is_a: DOID:4242 ! kidney sarcoma [Term] id: DOID:4882 name: obsolete pediatric soft part clear cell sarcoma is_obsolete: true [Term] id: DOID:4884 name: obsolete peritoneal neoplasm synonym: "neoplasm of peritoneum (disorder)" EXACT [] synonym: "peritoneal neoplasm" EXACT [] synonym: "peritoneum neoplasm" EXACT [] is_obsolete: true [Term] id: DOID:4885 name: Colorado tick fever def: "A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue." [url:https\://www.cdc.gov/coloradotickfever/index.html] subset: DO_infectious_disease_slim subset: tick-borne_infectious_disease synonym: "Tick fever, American mountain" EXACT [] xref: ICD10CM:A93.2 xref: MESH:D003121 xref: SNOMEDCT_US_2023_03_01:186607005 xref: UMLS_CUI:C0009400 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:4887 name: obsolete Rotavirus infectious disease def: "A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain." [url:http\://www.cdc.gov/rotavirus/about/symptoms.html] is_obsolete: true [Term] id: DOID:4889 name: lymph node tuberculosis alt_id: DOID:4888 def: "An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." [url:https\://pubmed.ncbi.nlm.nih.gov/25131362/, url:https\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "king's evil" EXACT [] synonym: "scrofula" EXACT [] synonym: "Tuberculous adenitis" EXACT [] synonym: "Tuberculous lymphadenopathy" EXACT [] xref: ICD10CM:A18.2 xref: MESH:D014388 xref: MESH:D018601 xref: NCI:C26896 xref: SNOMEDCT_US_2023_03_01:10893003 xref: UMLS_CUI:C0041316 xref: UMLS_CUI:C0242830 is_a: DOID:0050598 ! extrapulmonary tuberculosis is_a: DOID:9942 ! lymph node disease [Term] id: DOID:4890 name: juvenile myoclonic epilepsy alt_id: DOID:0050326 def: "A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years." [url:http\://en.wikipedia.org/wiki/Juvenile_myoclonic_epilepsy, url:http\://www.epilepsy.com/epilepsy/epilepsy_juvenilemyoclonic, url:http\://www.ilae-epilepsy.org/Visitors/Documents/EngelClassificationRepo] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Janz syndrome" NARROW [] xref: GARD:6808 xref: MESH:D020190 xref: MIM:254770 xref: NCI:C84796 xref: ORDO:307 xref: ORDO:862 xref: SNOMEDCT_US_2023_03_01:6204001 xref: UMLS_CUI:C0270853 is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome [Term] id: DOID:4892 name: middle ear adenocarcinoma def: "A middle ear carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of middle ear" RELATED [] synonym: "adenocarcinoma of the middle ear" EXACT [] xref: NCI:C6848 xref: UMLS_CUI:C1334758 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4893 ! middle ear carcinoma [Term] id: DOID:4893 name: middle ear carcinoma def: "A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: NCIthesaurus synonym: "carcinoma of middle ear" RELATED [] synonym: "carcinoma of the middle ear" EXACT [] xref: NCI:C6089 xref: UMLS_CUI:C1334760 is_a: DOID:305 ! carcinoma is_a: DOID:5099 ! middle ear cancer [Term] id: DOID:4894 name: rete ovarii adenocarcinoma def: "An ovary adenocarcinoma that arises from the rete ovarii." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21139896] subset: NCIthesaurus xref: NCI:C40017 xref: SNOMEDCT_US_2023_03_01:703655009 xref: UMLS_CUI:C3840223 is_a: DOID:3713 ! ovary adenocarcinoma [Term] id: DOID:4895 name: rete ovarii benign neoplasm def: "A female reporoductive organ benign neoplasm that is located_in the rete ovarii." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2852648] subset: NCIthesaurus xref: NCI:C40016 xref: UMLS_CUI:C1514909 is_a: DOID:0060086 ! female reproductive organ benign neoplasm [Term] id: DOID:4896 name: bile duct adenocarcinoma def: "A bile duct carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C27813 xref: SNOMEDCT_US_2023_03_01:70179006 xref: UMLS_CUI:C1370800 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4897 ! bile duct carcinoma [Term] id: DOID:4897 name: bile duct carcinoma def: "A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_bile_duct_cancer_69.asp] subset: NCIthesaurus xref: MESH:D001650 xref: NCI:C27814 xref: SNOMEDCT_US_2023_03_01:70179006 xref: UMLS_CUI:C0740277 is_a: DOID:305 ! carcinoma is_a: DOID:4606 ! bile duct cancer [Term] id: DOID:4898 name: obsolete adenocarcinoma in a polyp synonym: "adenocarcinoma in adenomatous polyp" EXACT [] synonym: "adenocarcinoma in adenomatous polyp (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:490 name: hemangioma of lung synonym: "pulmonary hemangioma" EXACT [] is_a: DOID:255 ! hemangioma is_a: DOID:3683 ! lung benign neoplasm [Term] id: DOID:4900 name: obsolete mixed cell adenocarcinoma synonym: "mixed cell adenocarcinoma" EXACT [] synonym: "mixed cell adenocarcinoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:4901 name: peritoneal serous adenocarcinoma subset: NCIthesaurus synonym: "primary peritoneal serous adenocarcinoma" EXACT [] xref: NCI:C40023 xref: UMLS_CUI:C1514429 is_a: DOID:1791 ! peritoneal carcinoma [Term] id: DOID:4902 name: appendix carcinoma def: "An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: NCIthesaurus synonym: "Ca appendix" EXACT [] synonym: "carcinoma of appendix" EXACT [] xref: NCI:C9330 xref: SNOMEDCT_US_2023_03_01:269541000 xref: UMLS_CUI:C0728951 is_a: DOID:11239 ! appendix cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:4903 name: granular cell carcinoma def: "A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm." [url:http\://en.wikipedia.org/wiki/Granular_cell_tumor] subset: NCIthesaurus synonym: "granular cell adenocarcinoma" EXACT [] xref: ICDO:8320/3 xref: MESH:D000230 xref: NCI:C3681 xref: SNOMEDCT_US_2023_03_01:69028005 xref: UMLS_CUI:C0205644 is_a: DOID:305 ! carcinoma [Term] id: DOID:4904 name: obsolete intestinal type carcinoma synonym: "adenocarcinoma, intestinal type (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:4905 name: pancreatic carcinoma def: "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas." [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://www.cancer.gov/cancertopics/types/pancreatic] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: NCIthesaurus synonym: "carcinoma of pancreas" EXACT [] synonym: "exocrine cancer" RELATED [] synonym: "Exocrine pancreas carcinoma" EXACT [] synonym: "Pancreatic carcinoma, familial" RELATED [MESH:C535837] xref: EFO:0002618 xref: MESH:C562463 xref: MIM:260350 xref: NCI:C3850 xref: SNOMEDCT_US_2023_03_01:154475002 xref: UMLS_CUI:C0235974 is_a: DOID:1795 ! malignant exocrine pancreas neoplasm is_a: DOID:305 ! carcinoma [Term] id: DOID:4906 name: small intestine adenocarcinoma def: "A small intestine carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: DO_rare_slim subset: NCIthesaurus synonym: "adenocarcinoma of small Intestine" RELATED [] synonym: "small intestinal adenocarcinoma" EXACT [] xref: GARD:13090 xref: NCI:C7888 xref: SNOMEDCT_US_2023_03_01:424440001 xref: UMLS_CUI:C0278803 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4907 ! small intestine carcinoma [Term] id: DOID:4907 name: small intestine carcinoma def: "A small intestine cancer that develops from epithelial cells and is located_in the small intestine." [url:http\://en.wikipedia.org/wiki/Small_intestine_cancer] subset: NCIthesaurus synonym: "cancer of the small bowel" RELATED [] synonym: "small bowel cancer" RELATED [] synonym: "small intestinal carcinoma" EXACT [] xref: NCI:C7724 xref: UMLS_CUI:C0238196 is_a: DOID:10154 ! small intestine cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:4908 name: anal carcinoma def: "A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus." [url:http\://en.wikipedia.org/wiki/Anal_cancer] subset: NCIthesaurus synonym: "Ca anus" EXACT [] synonym: "carcinoma of anus" EXACT [] xref: MESH:D001005 xref: NCI:C9291 xref: SNOMEDCT_US_2023_03_01:187762000 xref: UMLS_CUI:C0279637 is_a: DOID:14110 ! anus cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:4910 name: urethra adenocarcinoma def: "An urethra cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of the urethra" EXACT [] xref: NCI:C6167 xref: UMLS_CUI:C1336885 is_a: DOID:299 ! adenocarcinoma is_a: DOID:734 ! urethra cancer [Term] id: DOID:4911 name: obsolete superficial spreading adenocarcinoma synonym: "Superficial Spreading adenocarcinoma" EXACT [] synonym: "Superficial spreading adenocarcinoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:4912 name: obsolete disseminated adenocarcinoma synonym: "Disseminated adenocarcinoma" EXACT [] synonym: "Disseminated adenocarcinoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:4914 name: esophagus adenocarcinoma def: "An esophageal carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Oesophageal adenocarcinoma" EXACT [] xref: MESH:C562730 xref: NCI:C4025 xref: SNOMEDCT_US_2023_03_01:276803003 xref: UMLS_CUI:C0279628 is_a: DOID:1107 ! esophageal carcinoma is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:4915 name: basophilic adenocarcinoma subset: NCIthesaurus synonym: "Basophil adenocarcinoma" EXACT [] synonym: "Basophil carcinoma" EXACT [] synonym: "basophilic carcinoma" EXACT [] xref: NCI:C4150 xref: SNOMEDCT_US_2023_03_01:47107000 xref: UMLS_CUI:C0334314 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4916 ! pituitary carcinoma [Term] id: DOID:4916 name: pituitary carcinoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "carcinoma of the Pituitary gland" EXACT [] xref: ICDO:8272/3 xref: MESH:D010911 xref: NCI:C4536 xref: SNOMEDCT_US_2023_03_01:128665000 xref: UMLS_CUI:C0346300 is_a: DOID:1785 ! pituitary cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:4917 name: villous adenocarcinoma def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15489649] subset: NCIthesaurus xref: ICDO:8262/3 xref: NCI:C4142 xref: SNOMEDCT_US_2023_03_01:28558000 xref: UMLS_CUI:C0334306 is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:4918 name: renal pelvis adenocarcinoma def: "A renal pelvis carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of renal pelvis" RELATED [] synonym: "adenocarcinoma of the kidney Pelvis" EXACT [] xref: NCI:C6143 xref: UMLS_CUI:C1335748 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4919 ! renal pelvis carcinoma [Term] id: DOID:4919 name: renal pelvis carcinoma alt_id: DOID:12343 subset: NCIthesaurus synonym: "carcinoma of kidney Pelvis" EXACT [] synonym: "malignant neoplasm of renal pelvis" EXACT [] synonym: "malignant renal Pelvis neoplasm" EXACT [] synonym: "malignant tumor of renal pelvis" EXACT [] synonym: "renal pelvis cancer" EXACT [] xref: ICD10CM:C65 xref: ICD9CM:189.1 xref: NCI:C6142 xref: NCI:C7525 xref: SNOMEDCT_US_2023_03_01:363457009 xref: UMLS_CUI:C0153618 xref: UMLS_CUI:C1335749 is_a: DOID:263 ! kidney cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:492 name: acquired hemangioma subset: NCIthesaurus xref: NCI:C27018 xref: UMLS_CUI:C0856897 is_a: DOID:255 ! hemangioma [Term] id: DOID:4920 name: eccrine adenocarcinoma def: "An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] xref: ICDO:8413/3 xref: SNOMEDCT_US_2023_03_01:128686000 xref: UMLS_CUI:C1266066 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4921 ! eccrine sweat gland cancer [Term] id: DOID:4921 name: eccrine sweat gland cancer subset: NCIthesaurus synonym: "malignant eccrine skin neoplasm" EXACT [] synonym: "malignant Eccrine tumor" EXACT [] xref: NCI:C5559 xref: UMLS_CUI:C1334577 is_a: DOID:2095 ! sweat gland cancer [Term] id: DOID:4922 name: breast secretory carcinoma alt_id: DOID:6586 def: "A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm." [url:http\://surgpathcriteria.stanford.edu/breast/secretcabr/printable.html] subset: DO_cancer_slim subset: NCIthesaurus synonym: "juvenile breast carcinoma" EXACT [] synonym: "juvenile carcinoma of the breast" EXACT [] synonym: "Juvenile Secretory carcinoma of breast" EXACT [] xref: MESH:C537535 xref: NCI:C4189 xref: SNOMEDCT_US_2023_03_01:41919003 xref: UMLS_CUI:C0334371 is_a: DOID:3458 ! breast adenocarcinoma [Term] id: DOID:4923 name: thymus adenocarcinoma def: "A thymic carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of the Thymus" EXACT [] xref: NCI:C6459 xref: UMLS_CUI:C1336743 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3284 ! thymic carcinoma [Term] id: DOID:4924 name: obsolete human papillomavirus related adenocarcinoma def: "A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers." [url:http\://www.springerlink.com/content/7652866m7198p524/fulltext.pdf] synonym: "HPV-Related adenocarcinoma" EXACT [] is_obsolete: true [Term] id: DOID:4925 name: obsolete human papillomavirus related carcinoma def: "A papillomavirus infectious disease that results_in infection, has_material_basis_in human papillomavirus (types 16, 18, 31, 32 or 33), which cause intraepithelial lesions that may progress to carcinomas." [url:http\://emedicine.medscape.com/article/219110-overview] synonym: "HPV-Related carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:4926 name: bronchiolo-alveolar adenocarcinoma def: "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension." [url:https\://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C2923, url:https\://www.ncbi.nlm.nih.gov/pubmed/15562552, url:https\://www.ncbi.nlm.nih.gov/pubmed/9498957] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Bronchioalveolar lung carcinoma" EXACT [] synonym: "Bronchioloalveolar carcinoma" EXACT [] synonym: "Minimally Invasive Lung Adenocarcinoma" EXACT [] xref: MESH:D002282 xref: NCI:C2923 xref: SNOMEDCT_US_2023_03_01:307595008 xref: UMLS_CUI:C0007120 is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:4927 name: Klatskin's tumor alt_id: DOID:5246 def: "An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts." [url:https\://meshb.nlm.nih.gov/record/ui?ui=D018285] subset: DO_rare_slim subset: NCIthesaurus synonym: "hilar cholangiocarcinoma" EXACT [] synonym: "hilar cholangiocellular carcinoma" EXACT [] synonym: "Klatskin tumor" EXACT [] synonym: "Klatskin tumour" EXACT [] synonym: "Klatskin's tumour" EXACT [] synonym: "Perihilar extrahepatic bile duct carcinoma" EXACT [] xref: GARD:10175 xref: MESH:D018285 xref: NCI:C36077 xref: SNOMEDCT_US_2023_03_01:253017000 xref: UMLS_CUI:C0206702 is_a: DOID:4928 ! intrahepatic cholangiocarcinoma [Term] id: DOID:4928 name: intrahepatic cholangiocarcinoma def: "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree." [url:https\://www.dana-farber.org/intrahepatic-cholangiocarcinoma/] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Intrahepatic bile duct carcinoma" EXACT [] synonym: "peripheral Cholangiocarcinoma" EXACT [] xref: GARD:6042 xref: ICD10CM:C22.1 xref: MESH:D018281 xref: NCI:C35417 xref: SNOMEDCT_US_2023_03_01:1260050006 xref: UMLS_CUI:C0345905 is_a: DOID:4947 ! cholangiocarcinoma [Term] id: DOID:4929 name: tubular adenocarcinoma def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma." [url:https\://www.ncbi.nlm.nih.gov/books/NBK553180/] subset: NCIthesaurus synonym: "tubular carcinoma" EXACT [] xref: ICDO:8211/3 xref: MESH:D000230 xref: NCI:C65192 xref: SNOMEDCT_US_2023_03_01:4631006 xref: UMLS_CUI:C0205645 is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:4930 name: nasal cavity adenocarcinoma def: "A nasal cavity carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of nasal cavity" RELATED [] synonym: "adenocarcinoma of the nasal cavity" EXACT [] xref: NCI:C6015 xref: UMLS_CUI:C1334920 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4931 ! nasal cavity carcinoma [Term] id: DOID:4931 name: nasal cavity carcinoma def: "A nasal cavity cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: NCIthesaurus synonym: "cancer of nasal cavity" EXACT [] synonym: "carcinoma of nasal cavity" RELATED [] xref: NCI:C9336 xref: UMLS_CUI:C1377785 is_a: DOID:10811 ! nasal cavity cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:4932 name: ampulla of Vater carcinoma def: "An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "ampulla of vater cancer" EXACT [] synonym: "ampullary carcinoma" EXACT [] synonym: "carcinoma of ampulla of vater" EXACT [] xref: NCI:C3908 xref: SNOMEDCT_US_2023_03_01:254609000 xref: UMLS_CUI:C0262401 is_a: DOID:10020 ! ampulla of Vater cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:4933 name: apocrine carcinoma alt_id: DOID:5571 def: "An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: DO_rare_slim subset: NCIthesaurus synonym: "apocrine adenocarcinoma" EXACT [] synonym: "apocrine gland carcinoma" EXACT [] synonym: "carcinoma of the Apocrine gland" EXACT [] xref: GARD:12138 xref: ICDO:8401/3 xref: NCI:C4169 xref: SNOMEDCT_US_2023_03_01:57141000 xref: UMLS_CUI:C0334346 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4934 ! apocrine sweat gland cancer [Term] id: DOID:4934 name: apocrine sweat gland cancer subset: NCIthesaurus synonym: "malignant Apocrine tumor" EXACT [] xref: NCI:C6800 xref: UMLS_CUI:C1334561 is_a: DOID:2095 ! sweat gland cancer [Term] id: DOID:4935 name: obsolete acidophil carcinoma synonym: "Acidophil carcinoma (morphologic abnormality)" EXACT [] synonym: "Eosinophil carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:4936 name: obsolete mixed eosinophil-basophil carcinoma synonym: "mixed acidophil-basophil carcinoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:4937 name: obsolete oxyphilic adenocarcinoma synonym: "Follicular carcinoma, oxyphilic cell" EXACT [] synonym: "Hurthle cell adenocarcinoma" EXACT [] is_obsolete: true [Term] id: DOID:4938 name: ureter adenocarcinoma def: "An ureter carcinoma that derives_from epithelial cells of glandular origin." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of ureter" RELATED [] synonym: "ureteral adenocarcinoma" EXACT [] xref: NCI:C6155 xref: UMLS_CUI:C1336873 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4939 ! ureter carcinoma [Term] id: DOID:4939 name: ureter carcinoma def: "An ureter cancer that is located_in the ureter." [url:http\://www.mayoclinic.org/ureter-cancer/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "ureteral carcinoma" EXACT [] xref: NCI:C8993 xref: UMLS_CUI:C0600079 is_a: DOID:11819 ! ureter cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:4942 name: obsolete combined hepatocellular carcinoma and cholangiocarcinoma synonym: "carcinoma of Liver and Intrahepatic biliary tract" EXACT [] synonym: "Combined hepatocellular carcinoma and cholangiocarcinoma (disorder)" EXACT [] synonym: "Combined hepatocellular carcinoma and cholangiocarcinoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:4943 name: adenocarcinoma in situ def: "An in situ carcinoma that derives_from epithelial cells of glandular origin." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/adenocarcinoma-in-situ] subset: NCIthesaurus xref: ICDO:8140/2 xref: MESH:D065311 xref: NCI:C4123 xref: SNOMEDCT_US_2023_03_01:51642000 xref: UMLS_CUI:C0334276 is_a: DOID:8719 ! in situ carcinoma property_value: exactMatch "MESH:D065311" xsd:string [Term] id: DOID:4944 name: gastroesophageal junction adenocarcinoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "adenocarcinoma of Cardioesophageal junction" EXACT [] synonym: "adenocarcinoma of gastroesophageal junction" RELATED [] xref: NCI:C9296 xref: UMLS_CUI:C1332166 is_a: DOID:0080375 ! gastroesophageal adenocarcinoma [Term] id: DOID:4947 name: cholangiocarcinoma alt_id: DOID:5249 def: "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells." [url:http\://cancergenome.nih.gov/cancersselected/Cholangiocarcinoma, url:http\://en.wikipedia.org/wiki/Cholangiocarcinoma, url:http\://www.cancer.gov/dictionary?CdrID=335064] subset: DO_cancer_slim subset: NCIthesaurus synonym: "adult primary Cholangiocarcinoma" EXACT [] synonym: "adult primary cholangiocellular carcinoma" EXACT [] synonym: "cholangiosarcoma" EXACT [] xref: ICD10CM:C22.1 xref: ICDO:8160/3 xref: MESH:D018281 xref: NCI:C4436 xref: NCI:C8265 xref: SNOMEDCT_US_2023_03_01:70179006 xref: UMLS_CUI:C0206698 xref: UMLS_CUI:C0280725 is_a: DOID:4896 ! bile duct adenocarcinoma [Term] id: DOID:4948 name: gallbladder carcinoma def: "A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:https\://www.mayoclinic.org/diseases-conditions/gallbladder-cancer/symptoms-causes/syc-20353370] subset: NCIthesaurus synonym: "cancer of the gallbladder" EXACT [] synonym: "carcinoma gallbladder" EXACT [] synonym: "carcinoma of gallbladder" EXACT [] xref: NCI:C3844 xref: SNOMEDCT_US_2023_03_01:93810008 xref: UMLS_CUI:C0235782 is_a: DOID:305 ! carcinoma is_a: DOID:3121 ! gallbladder cancer [Term] id: DOID:495 name: sclerosing hemangioma synonym: "Sclerosing haemangioma" EXACT [] xref: SNOMEDCT_US_2023_03_01:134302009 xref: UMLS_CUI:C1509148 is_a: DOID:255 ! hemangioma [Term] id: DOID:4952 name: postpoliomyelitis syndrome def: "A poliomyelitis that results in atrophy located in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has symptom muscle weakness, has symptom muscle pain, has symptom sleep apnea, and has symptom breathing problems." [url:http\://en.wikipedia.org/wiki/Postpolio_syndrome, url:http\://www.mayoclinic.com/health/post-polio-syndrome/DS00494/DSECTION=symptoms] subset: DO_infectious_disease_slim subset: DO_rare_slim synonym: "Postpolio syndrome" EXACT [] xref: GARD:4454 xref: ICD10CM:G14 xref: MESH:D016262 xref: SNOMEDCT_US_2023_03_01:31097004 xref: UMLS_CUI:C0080040 is_a: DOID:4953 ! poliomyelitis [Term] id: DOID:4953 name: poliomyelitis def: "A viral infectious disease that results in destruction located in motor neurons, 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 fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis." [url:http\://en.wikipedia.org/wiki/Poliomyelitis, url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf, url:http\://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7413 xref: ICD10CM:A80 xref: ICD9CM:045 xref: MESH:D011051 xref: NCI:C35550 xref: SNOMEDCT_US_2023_03_01:54839009 xref: UMLS_CUI:C0032371 is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:4955 name: central nervous system melanocytic neoplasm alt_id: DOID:4954 def: "A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209706/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10403296] subset: NCIthesaurus synonym: "central nervous system primary melanocytic lesion" RELATED [] synonym: "melanocytic tumor of the CNS" EXACT [] synonym: "primary melanocytic lesion of meninges" RELATED [] synonym: "primary melanocytic Lesions of the CNS" RELATED [] xref: NCI:C5504 xref: SNOMEDCT_US_2023_03_01:277523004 xref: UMLS_CUI:C0349623 xref: UMLS_CUI:C1332887 is_a: DOID:3620 ! central nervous system cancer [Term] id: DOID:4956 name: obsolete leptomeningeal neoplasm synonym: "tumor of leptomeninges" EXACT [] is_obsolete: true [Term] id: DOID:4957 name: meninges hemangiopericytoma subset: NCIthesaurus synonym: "hemangiopericytoma of meninges" EXACT [] synonym: "Meningeal hemangiopericytoma" EXACT [] xref: NCI:C4660 xref: SNOMEDCT_US_2023_03_01:277522009 xref: UMLS_CUI:C0349622 is_a: DOID:264 ! hemangiopericytoma is_a: DOID:3565 ! meningioma [Term] id: DOID:4958 name: obsolete central nervous system hemangiopericytoma def: "A hemangiopericytoma which is manifested in the central nervous system." [url:http\://en.wikipedia.org/wiki/Hemangiopericytoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/1985083] is_obsolete: true [Term] id: DOID:4959 name: epidermolysis bullosa dystrophica def: "An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen." [url:https\://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes] subset: DO_rare_slim subset: NCIthesaurus synonym: "Dystrophic epidermolysis bullosa" EXACT [] xref: GARD:2150 xref: ICD10CM:Q81.2 xref: MESH:D016108 xref: NCI:C84691 xref: SNOMEDCT_US_2023_03_01:254185007 xref: UMLS_CUI:C0079294 is_a: DOID:2730 ! epidermolysis bullosa [Term] id: DOID:496 name: spindle cell hemangioma subset: NCIthesaurus synonym: "SCH" EXACT OMO:0003012 [] xref: NCI:C4754 xref: SNOMEDCT_US_2023_03_01:128769003 xref: UMLS_CUI:C1304508 is_a: DOID:255 ! hemangioma [Term] id: DOID:4960 name: bone marrow cancer alt_id: DOID:2356 alt_id: DOID:2761 def: "A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow." [url:http\://nci.nih.gov/dictionary/?CdrID=430857] subset: DO_cancer_slim synonym: "bone marrow neoplasm" EXACT [] synonym: "bone Marrow tumor" EXACT [] synonym: "malignant bone Marrow tumor" EXACT [] synonym: "malignant neoplasm of bone marrow" EXACT [] xref: EFO:0004251 xref: ICD10CM:D47.1 xref: MESH:D009196 xref: SNOMEDCT_US_2023_03_01:128925001 xref: UMLS_CUI:C0027022 is_a: DOID:2531 ! hematologic cancer is_a: DOID:4961 ! bone marrow disease [Term] id: DOID:4961 name: bone marrow disease def: "A hematopoietic system disease that is located_in the bone marrow." [url:https\://medlineplus.gov/bonemarrowdiseases.html] subset: DO_RAD_slim subset: NCIthesaurus synonym: "bone marrow disorder" EXACT [] xref: MESH:D001855 xref: NCI:C34433 xref: SNOMEDCT_US_2023_03_01:127035006 xref: UMLS_CUI:C0005956 is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:4962 name: pericardial tuberculosis def: "An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction." [url:https\://pubmed.ncbi.nlm.nih.gov/23843490/, url:https\://pubmed.ncbi.nlm.nih.gov/26699941/, url:https\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease synonym: "tuberculous pericarditis" EXACT [] xref: ICD10CM:A18.84 xref: MESH:D010495 xref: SNOMEDCT_US_2023_03_01:67256000 xref: UMLS_CUI:C0031049 is_a: DOID:0050598 ! extrapulmonary tuberculosis is_a: DOID:0050829 ! pericardium disease [Term] id: DOID:4964 name: neurotic disorder alt_id: DOID:6342 alt_id: DOID:9687 def: "An anxiety disorder that involves discress but neither delusions nor hallucinations." [url:http\://en.wikipedia.org/wiki/Neurosis] subset: NCIthesaurus synonym: "depressive neurosis" EXACT [] synonym: "neurosis" EXACT [] synonym: "neurotic depression" EXACT [] synonym: "Neurotic depression reactive type" EXACT [] synonym: "Neurotic depressive state" EXACT [] synonym: "Psychoneurosis" EXACT [] synonym: "reactive depression" EXACT [] xref: ICD10CM:F34.1 xref: ICD10CM:F48.9 xref: MESH:D000275 xref: MESH:D003866 xref: MESH:D009497 xref: NCI:C34533 xref: NCI:C34848 xref: NCI:C35369 xref: SNOMEDCT_US_2023_03_01:154881002 xref: SNOMEDCT_US_2023_03_01:78667006 xref: SNOMEDCT_US_2023_03_01:87414006 xref: UMLS_CUI:C0011579 xref: UMLS_CUI:C0027932 xref: UMLS_CUI:C0282126 is_a: DOID:2030 ! anxiety disorder [Term] id: DOID:4966 name: obsolete adrenocortical hyperplasia synonym: "Adrenal Cortical hyperplasia" EXACT [] synonym: "Adrenocortical hyperplasia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4967 name: obsolete adrenal hyperplasia synonym: "Adrenal gland hyperplasia" EXACT [] synonym: "Adrenal hypertrophy or hyperplasia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4968 name: Nelson syndrome subset: DO_rare_slim subset: NCIthesaurus synonym: "Nelson's syndrome" EXACT [] xref: GARD:7170 xref: ICD10CM:E24.1 xref: MESH:D009347 xref: NCI:C84917 xref: SNOMEDCT_US_2023_03_01:43019009 xref: UMLS_CUI:C0027577 is_a: DOID:3952 ! adrenal cortex disease [Term] id: DOID:4969 name: Gerstmann syndrome def: "A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia." [url:http\://en.wikipedia.org/wiki/Gerstmann_syndrome, url:http\://www.ninds.nih.gov/disorders/gerstmanns/gerstmanns.htm] subset: DO_rare_slim synonym: "Aphasia-angular gyrus syndrome" EXACT [] xref: GARD:8660 xref: MEDDRA:10048608 xref: MESH:D005862 xref: ORDO:221117 xref: SNOMEDCT_US_2023_03_01:36785009 xref: UMLS_CUI:C0017494 is_a: DOID:863 ! nervous system disease [Term] id: DOID:4970 name: prosopagnosia def: "An agnosia that results in the loss of the ability to consciously recognize familiar faces." [url:http\://en.wikipedia.org/wiki/Agnosia] subset: NCIthesaurus xref: ICD10CM:R48.3 xref: MESH:D020238 xref: NCI:C85031 xref: SNOMEDCT_US_2023_03_01:18358003 xref: UMLS_CUI:C0234512 is_a: DOID:4090 ! agnosia [Term] id: DOID:4971 name: myelofibrosis alt_id: DOID:5737 def: "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue." [url:http\://en.wikipedia.org/wiki/Myelofibrosis] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Agnogenic myeloid metaplasia" EXACT [] synonym: "Aleukemic myelosis" EXACT [] synonym: "bone Marrow Fibrosis" EXACT [] synonym: "Megakaryocytic myelosclerosis" EXACT [] synonym: "myelosclerosis" EXACT [] synonym: "primary myelofibrosis" EXACT [] xref: GARD:8618 xref: ICD10CM:D47.4 xref: ICD10CM:D75.81 xref: ICD9CM:238.76 xref: ICD9CM:289.83 xref: MESH:D055728 xref: MIM:254450 xref: NCI:C2862 xref: NCI:C3248 xref: SNOMEDCT_US_2023_03_01:128843003 xref: SNOMEDCT_US_2023_03_01:267572005 xref: UMLS_CUI:C0001815 xref: UMLS_CUI:C0026987 is_a: DOID:0070004 ! myeloid neoplasm [Term] id: DOID:4972 name: myelodysplastic/myeloproliferative neoplasm alt_id: DOID:6470 def: "A myeloid neoplasm that results_in the overproduction of white blood cells." [url:http\://www.bloodjournal.org/content/114/5/937.long, url:http\://www.bloodjournal.org/content/127/20/2391, url:http\://www.bloodjournal.org/content/128/3/462, url:https\://www.cancer.gov/types/myeloproliferative/patient/mds-mpd-treatment-pdq] subset: NCIthesaurus synonym: "myelodysplastic myeloproliferative cancer" EXACT [] synonym: "myelodysplastic myeloproliferative disease" RELATED [] synonym: "Myeloproliferative/Myelodysplastic syndromes" EXACT [] xref: MESH:D054437 xref: NCI:C27262 xref: SNOMEDCT_US_2023_03_01:445738007 xref: UMLS_CUI:C1301355 is_a: DOID:0070004 ! myeloid neoplasm [Term] id: DOID:4974 name: actinobacillosis def: "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media." [url:http\://www.sciencedirect.com/science/article/pii/073646799500066J, url:https\://www.merckvetmanual.com/generalized-conditions/actinobacillosis/actinobacillosis] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease xref: MESH:D000187 xref: SNOMEDCT_US_2023_03_01:16140007 xref: UMLS_CUI:C0001247 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:1579 ! respiratory system disease property_value: exactMatch "MESH:D000187" xsd:string [Term] id: DOID:4975 name: obsolete Actinobacillus infectious disease subset: gram-negative_bacterial_infectious_disease synonym: "Actinobacillus infection (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:4976 name: elephantiasis subset: NCIthesaurus xref: MESH:D004604 xref: NCI:C34569 xref: SNOMEDCT_US_2023_03_01:155485008 xref: UMLS_CUI:C0013882 is_a: DOID:4977 ! lymphedema [Term] id: DOID:4977 name: lymphedema subset: NCIthesaurus synonym: "Lymphatic edema" EXACT [] synonym: "Lymphoedema" EXACT [] xref: MESH:D008209 xref: NCI:C3207 xref: SNOMEDCT_US_2023_03_01:266334008 xref: UMLS_CUI:C0024236 is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:4978 name: obsolete Ewing's family recurrent tumor synonym: "recurrent Askin's tumor" EXACT [] synonym: "recurrent Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [] is_obsolete: true [Term] id: DOID:4979 name: obsolete recurrent primitive neuroectodermal tumor is_obsolete: true [Term] id: DOID:4982 name: obsolete metastatic Ewing's sarcoma synonym: "Ewing's sarcoma, metastatic" EXACT [] is_obsolete: true [Term] id: DOID:4983 name: obsolete metastatic Ewing's sarcoma/peripheral primitive neuroectodermal tumor is_obsolete: true [Term] id: DOID:4985 name: extraosseous Ewings sarcoma-primitive neuroepithelial tumor subset: NCIthesaurus synonym: "extraosseous Ewing's tumor" EXACT [] synonym: "extraosseous Ewing's tumour" EXACT [] synonym: "extraosseous Ewings sarcoma-primitive neuroepithelial tumour" EXACT [] xref: NCI:C7135 xref: UMLS_CUI:C0279980 is_a: DOID:4232 ! extraosseous Ewing sarcoma [Term] id: DOID:4986 name: nonparalytic poliomyelitis def: "A poliomyelitis that results in destruction located in motor neurons, 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 fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, and has symptom muscle spasms." [url:https\://www.mayoclinic.org/diseases-conditions/polio/symptoms-causes/syc-20376512] subset: DO_infectious_disease_slim synonym: "acute nonparalytic poliomyelitis" EXACT [] synonym: "non-paralytic aseptic meningitis" EXACT [] xref: ICD10CM:A80.4 xref: ICD9CM:045.2 xref: SNOMEDCT_US_2023_03_01:14535005 xref: UMLS_CUI:C0152998 is_a: DOID:231 ! motor neuron disease is_a: DOID:4953 ! poliomyelitis [Term] id: DOID:4987 name: obsolete recurrent Ewing's sarcoma synonym: "relapsed Ewing's sarcoma" EXACT [] is_obsolete: true [Term] id: DOID:4988 name: alcoholic pancreatitis xref: MESH:D019512 xref: SNOMEDCT_US_2023_03_01:445507008 xref: UMLS_CUI:C0376670 is_a: DOID:4989 ! pancreatitis [Term] id: DOID:4989 name: pancreatitis def: "A pancreas disease that is characterized by inflammation of the pancreas." [url:https\://medlineplus.gov/pancreatitis.html] subset: NCIthesaurus xref: EFO:0000278 xref: ICD10CM:K85.9 xref: MESH:D010195 xref: MIM:167800 xref: NCI:C3306 xref: SNOMEDCT_US_2023_03_01:393591004 xref: UMLS_CUI:C0030305 is_a: DOID:26 ! pancreas disease [Term] id: DOID:4990 name: essential tremor def: "A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms." [url:http\://en.wikipedia.org/wiki/Essential_tremor, url:http\://ghr.nlm.nih.gov/condition/essential-tremor] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "benign essential tremor" EXACT [] synonym: "essential hereditary tremor" EXACT [] synonym: "shaky hand syndrome" EXACT [] xref: GARD:5910 xref: ICD10CM:G25.0 xref: MESH:D020329 xref: MIM:PS190300 xref: NCI:C182453 xref: ORDO:862 xref: SNOMEDCT_US_2023_03_01:192839001 xref: UMLS_CUI:C0270736 is_a: DOID:480 ! movement disease [Term] id: DOID:4991 name: optic nerve astrocytoma alt_id: DOID:4849 subset: NCIthesaurus synonym: "Astrocytic tumor of optic nerve" EXACT [] synonym: "optic tract astrocytoma" EXACT [] xref: NCI:C6769 xref: NCI:C7533 xref: UMLS_CUI:C1335114 xref: UMLS_CUI:C1336971 is_a: DOID:3070 ! high grade glioma is_a: DOID:4992 ! optic nerve glioma [Term] id: DOID:4992 name: optic nerve glioma subset: DO_rare_slim subset: NCIthesaurus synonym: "glioma of the optic nerve" EXACT [] xref: GARD:4107 xref: MESH:D020339 xref: NCI:C4537 xref: SNOMEDCT_US_2023_03_01:254976006 xref: UMLS_CUI:C0346326 is_a: DOID:0060108 ! brain glioma is_a: DOID:3419 ! optic nerve neoplasm [Term] id: DOID:4993 name: atypical polypoid adenomyoma def: "An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm." [url:http\://www.pathologyoutlines.com/topic/uterusapa.html] subset: NCIthesaurus xref: NCI:C6895 xref: SNOMEDCT_US_2023_03_01:40293003 xref: UMLS_CUI:C1300347 is_a: DOID:2609 ! adenomyoma [Term] id: DOID:4994 name: adenomyoma of uterine corpus def: "A uterine benign neoplasm that has_material_basis_in gland and muscle components." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16990713] subset: NCIthesaurus synonym: "adenomyoma of Corpus Uteri" EXACT [] synonym: "uterine corpus adenomyoma" EXACT [] xref: NCI:C6338 xref: UMLS_CUI:C1336903 is_a: DOID:0060095 ! uterine benign neoplasm [Term] id: DOID:4995 name: cervical adenomyoma def: "A cervical benign neoplasm that has_material_basis_in gland and muscle components." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24582628] subset: NCIthesaurus xref: NCI:C40231 xref: UMLS_CUI:C1516404 is_a: DOID:0060110 ! cervical benign neoplasm [Term] id: DOID:4997 name: Camurati-Engelmann disease def: "An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone." [url:http\://en.wikipedia.org/wiki/Camurati-Engelmann_disease, url:http\://ghr.nlm.nih.gov/condition/camurati-engelmann-disease, url:http\://www.ncbi.nlm.nih.gov/books/NBK1156/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1328, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Camurati-Engelmann%20Disease] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Diaphyseal dysplasia" EXACT [] synonym: "Engelman's disease" EXACT [] synonym: "progressive diaphyseal dysplasia" EXACT [] xref: GARD:1072 xref: ICD10CM:Q78.3 xref: MESH:D003966 xref: MIM:131300 xref: MIM:606631 xref: NCI:C84610 xref: SNOMEDCT_US_2023_03_01:34643004 xref: UMLS_CUI:C0011989 is_a: DOID:0050177 ! monogenic disease is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:4998 name: trichorhinophalangeal syndrome type II def: "A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose." [url:http\://en.wikipedia.org/wiki/Langer-Giedion_syndrome, url:http\://ghr.nlm.nih.gov/condition/langer-giedion-syndrome, url:http\://www.healthline.com/galecontent/langer-giedion-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=502, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1074/viewAbstract] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Langer-Giedion syndrome" EXACT [] synonym: "Trichorhinophalangeal dysplasia type II" EXACT [] synonym: "trichorhinophalangeal syndrome type 2" EXACT [] xref: GARD:7801 xref: MESH:D015826 xref: MIM:150230 xref: NCI:C75118 xref: ORDO:502 xref: SNOMEDCT_US_2023_03_01:41069008 xref: UMLS_CUI:C0023003 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:4999 name: obsolete syphilitic alopecia subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilitic alopecia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:50 name: thyroid gland disease def: "An endocrine system disease that is located_in the thyroid." [url:http\://en.wikipedia.org/wiki/Thyroid] subset: NCIthesaurus xref: ICD10CM:E07.9 xref: ICD9CM:246.9 xref: MESH:D013959 xref: NCI:C26893 xref: SNOMEDCT_US_2023_03_01:14304000 xref: UMLS_CUI:C0040128 is_a: DOID:28 ! endocrine system disease [Term] id: DOID:5000 name: obsolete cutaneous syphilis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilitic skin disorder" EXACT [] is_obsolete: true [Term] id: DOID:5002 name: obsolete equine infectious anemia def: "A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat." [url:http\://en.wikipedia.org/wiki/Equine_infectious_anemia] synonym: "Fever, swamp" EXACT [] is_obsolete: true [Term] id: DOID:5003 name: eunuchism def: "A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones." [url:https\://www.merriam-webster.com/dictionary/eunuch, url:https\://www.ncbi.nlm.nih.gov/mesh/?term=D005058] xref: MESH:D005058 xref: SNOMEDCT_US_2023_03_01:190559001 xref: UMLS_CUI:C0238117 is_a: DOID:1924 ! hypogonadism [Term] id: DOID:5006 name: obsolete adult primary liver cancer synonym: "adult primary cancer of the Liver" EXACT [] is_obsolete: true [Term] id: DOID:5007 name: obsolete resectable hepatocellular carcinoma synonym: "Resectable Hepatoma" EXACT [] is_obsolete: true [Term] id: DOID:501 name: central nervous system hemangioma subset: NCIthesaurus synonym: "hemangioma of CNS" EXACT [] xref: NCI:C7004 xref: UMLS_CUI:C1333957 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:255 ! hemangioma [Term] id: DOID:5015 name: fibrolamellar carcinoma def: "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers." [url:http\://www.nejm.org/doi/full/10.1056/NEJMra1001683, url:https\://en.wikipedia.org/wiki/Fibrolamellar_hepatocellular_carcinoma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Fibrolamellar hepatocellular carcinoma" EXACT [] synonym: "Hepatocellular carcinoma, fibrolamellar" EXACT [] synonym: "Oncocytic Hepatocellular tumor" EXACT [] xref: MESH:C537258 xref: NCI:C4131 xref: ORDO:401920 xref: SNOMEDCT_US_2023_03_01:15619004 xref: UMLS_CUI:C0334287 is_a: DOID:684 ! hepatocellular carcinoma [Term] id: DOID:5016 name: hepatocellular clear cell carcinoma subset: NCIthesaurus synonym: "Clear cell carcinoma of the Liver cells" EXACT [] synonym: "Hepatocellular carcinoma, clear cell type" EXACT [] xref: ICDO:8174/3 xref: NCI:C5754 xref: SNOMEDCT_US_2023_03_01:128649001 xref: UMLS_CUI:C1266020 is_a: DOID:684 ! hepatocellular carcinoma [Term] id: DOID:5017 name: obsolete hepatitis virus related hepatocellular carcinoma is_obsolete: true [Term] id: DOID:5019 name: obsolete non-resectable hepatocellular carcinoma is_obsolete: true [Term] id: DOID:502 name: central nervous system mesenchymal non-meningothelial tumor def: "A central nervous system cancer that is characterized by mesenchymal tumors within the CNS that develops from meninges, has_material_basis_in abnormally proliferating cells derives_from mesoderm." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1669699, url:https\://www.sciencedirect.com/science/article/pii/B978032344941000014X] synonym: "central nervous system mesenchymal non-meningothelial tumour" EXACT [] synonym: "Non-meningothelial mesenchymal tumor" EXACT [] synonym: "Non-meningothelial mesenchymal tumour" EXACT [] is_a: DOID:3620 ! central nervous system cancer [Term] id: DOID:5022 name: aflatoxins-related hepatocellular carcinoma subset: NCIthesaurus xref: NCI:C27922 xref: UMLS_CUI:C1332222 is_a: DOID:684 ! hepatocellular carcinoma [Term] id: DOID:5026 name: sclerosing hepatic carcinoma subset: NCIthesaurus synonym: "Sclerosing Hepatocellular carcinoma" EXACT [] xref: NCI:C27388 xref: SNOMEDCT_US_2023_03_01:128646008 xref: UMLS_CUI:C1266018 is_a: DOID:684 ! hepatocellular carcinoma [Term] id: DOID:5027 name: obsolete recurrent hepatocellular carcinoma synonym: "relapsed Hepatoma" EXACT [] is_obsolete: true [Term] id: DOID:5028 name: obsolete recurrent cancer of Liver synonym: "relapsed cancer of the Liver" EXACT [] is_obsolete: true [Term] id: DOID:5029 name: obsolete Alphavirus infectious disease def: "A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite." [url:http\://en.wikipedia.org/wiki/Alphavirus] is_obsolete: true [Term] id: DOID:5030 name: pineal parenchymal tumor of intermediate differentiation subset: DO_cancer_slim subset: NCIthesaurus synonym: "pineal parenchymal tumour of intermediate differentiation" EXACT [] xref: ICDO:9362/3 xref: NCI:C6967 xref: SNOMEDCT_US_2023_03_01:715904005 xref: UMLS_CUI:C1367859 is_a: DOID:1664 ! pineoblastoma [Term] id: DOID:5031 name: adult pineal parenchymal tumor subset: NCIthesaurus synonym: "adult Pineal Parenchymal neoplasm" EXACT [] xref: NCI:C8273 xref: UMLS_CUI:C0280794 is_a: DOID:5032 ! pineal gland cancer [Term] id: DOID:5032 name: pineal gland cancer alt_id: DOID:1662 alt_id: DOID:4859 def: "An endocrine gland located_in the pineal gland located in the brain." [url:http\://en.wikipedia.org/wiki/Pineal_gland] subset: NCIthesaurus synonym: "malignant Pineal Region tumor" EXACT [] synonym: "malignant tumor of pineal gland" EXACT [] synonym: "neoplasm of pineal gland" EXACT [] synonym: "neoplasm of the Pineal Region" EXACT [] synonym: "pineal body neoplasm" EXACT [] synonym: "Pineocytic tumor" EXACT [] synonym: "tumor of the pineal region" EXACT [] xref: ICD10CM:C75.3 xref: ICD9CM:194.4 xref: MESH:D010871 xref: NCI:C3328 xref: NCI:C3573 xref: NCI:C6965 xref: SNOMEDCT_US_2023_03_01:127026004 xref: SNOMEDCT_US_2023_03_01:93962006 xref: UMLS_CUI:C0031941 xref: UMLS_CUI:C0153655 xref: UMLS_CUI:C1412004 is_a: DOID:170 ! endocrine gland cancer [Term] id: DOID:5039 name: myoblastoma subset: NCIthesaurus synonym: "benign granular cell tumor" EXACT [] xref: MESH:D009379 xref: NCI:C3252 xref: UMLS_CUI:C0027043 is_a: DOID:461 ! muscle benign neoplasm [Term] id: DOID:5040 name: malignant granular cell esophageal tumor subset: NCIthesaurus synonym: "granular cell tumor of esophagus" EXACT [] synonym: "granular cell tumour of oesophagus" EXACT [] synonym: "malignant granular cell esophageal tumour" EXACT [] xref: NCI:C5700 xref: SNOMEDCT_US_2023_03_01:1196862008 xref: UMLS_CUI:C1333448 is_a: DOID:5041 ! esophageal cancer [Term] id: DOID:5041 name: esophageal cancer alt_id: DOID:10291 alt_id: DOID:10292 alt_id: DOID:10448 alt_id: DOID:1102 alt_id: DOID:1104 def: "A gastrointestinal system cancer that is located_in the esophagus." [url:http\://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer, url:http\://en.wikipedia.org/wiki/Esophagus] subset: DO_cancer_slim subset: DO_CFDE_slim subset: DO_RAD_slim subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "Ca lower third oesophagus" EXACT [] synonym: "Ca middle third oesophagus" EXACT [] synonym: "esophagus cancer" EXACT [] synonym: "malignant neoplasm of distal third of esophagus" EXACT [] synonym: "malignant neoplasm of lower third of oesophagus" EXACT [] synonym: "malignant neoplasm of middle third of oesophagus" EXACT [] synonym: "malignant neoplasm of proximal third of esophagus" EXACT [] synonym: "malignant neoplasm of upper third esophagus" EXACT [] synonym: "malignant tumor of abdominal esophagus" EXACT [] synonym: "malignant tumor of Distal Third of esophagus" EXACT [] synonym: "malignant tumor of Proximal Third of esophagus" EXACT [] synonym: "malignant tumor of the middle Third of the esophagus" EXACT [] xref: GARD:6383 xref: ICD10CM:C15.3 xref: ICD10CM:C15.4 xref: ICD10CM:C15.5 xref: ICD9CM:150.2 xref: ICD9CM:150.3 xref: ICD9CM:150.4 xref: ICD9CM:150.5 xref: ICD9CM:150.8 xref: MESH:D004938 xref: MIM:133239 xref: NCI:C3028 xref: NCI:C3533 xref: NCI:C3534 xref: NCI:C3535 xref: NCI:C4764 xref: SNOMEDCT_US_2023_03_01:126817006 xref: SNOMEDCT_US_2023_03_01:187729008 xref: SNOMEDCT_US_2023_03_01:93656003 xref: SNOMEDCT_US_2023_03_01:93877002 xref: SNOMEDCT_US_2023_03_01:93895004 xref: SNOMEDCT_US_2023_03_01:94119000 xref: UMLS_CUI:C0014859 xref: UMLS_CUI:C0153413 xref: UMLS_CUI:C0153414 xref: UMLS_CUI:C0153415 xref: UMLS_CUI:C0153416 xref: UMLS_CUI:C0496775 is_a: DOID:3119 ! gastrointestinal system cancer is_a: DOID:6050 ! esophageal disease [Term] id: DOID:5042 name: malignant granular cell myoblastoma subset: NCIthesaurus synonym: "granular cell tumor, malignant" EXACT [] synonym: "malignant granular cell neoplasm" EXACT [] synonym: "malignant granular cell tumor" EXACT [] xref: NCI:C4336 xref: SNOMEDCT_US_2023_03_01:404041003 xref: UMLS_CUI:C0334618 is_a: DOID:4159 ! skin cancer [Term] id: DOID:5043 name: vulvar granular cell tumor def: "A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei." [url:https\://en.wikipedia.org/wiki/Granular_cell_tumor, url:https\://www.ncbi.nlm.nih.gov/pubmed/24303488, url:https\://www.ncbi.nlm.nih.gov/pubmed/27510686] subset: NCIthesaurus xref: NCI:C40328 xref: UMLS_CUI:C1520083 is_a: DOID:0060109 ! vulvar benign neoplasm [Term] id: DOID:5044 name: cardiac granular cell neoplasm subset: NCIthesaurus synonym: "granular cell tumor of Heart" EXACT [] xref: NCI:C5360 xref: UMLS_CUI:C1332845 is_a: DOID:0060091 ! cardiovascular organ benign neoplasm [Term] id: DOID:5046 name: mediastinal granular cell myoblastoma subset: NCIthesaurus synonym: "granular cell tumor of mediastinum" EXACT [] xref: NCI:C6601 xref: UMLS_CUI:C1334656 is_a: DOID:6175 ! mediastinal neurilemmoma [Term] id: DOID:5047 name: granular cell tumor of the sellar region def: "A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes." [url:https\://pubmed.ncbi.nlm.nih.gov/32926559/] subset: NCIthesaurus synonym: "neurohypophysis granular cell tumor" EXACT [] xref: NCI:C7017 xref: SNOMEDCT_US_2023_03_01:699331002 xref: UMLS_CUI:C1333873 is_a: DOID:5048 ! posterior pituitary gland neoplasm [Term] id: DOID:5048 name: posterior pituitary gland neoplasm def: "A pituitary gland benign neoplasm that arises from the neurohypophysis." [url:https\://pubmed.ncbi.nlm.nih.gov/33709954/] subset: NCIthesaurus synonym: "Posterior Pituitary tumor" EXACT [] xref: NCI:C7157 xref: UMLS_CUI:C1334957 is_a: DOID:60009 ! pituitary gland benign neoplasm [Term] id: DOID:505 name: hobnail hemangioma is_a: DOID:255 ! hemangioma [Term] id: DOID:5050 name: Ehrlich tumor carcinoma synonym: "Ehrlich tumour carcinoma" EXACT [] synonym: "Ehrlich's tumor" EXACT [] synonym: "Ehrlich's tumour" EXACT [] xref: MESH:D002286 xref: UMLS_CUI:C0007125 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:5052 name: melioidosis alt_id: DOID:0050062 alt_id: DOID:0050064 def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain." [url:http\://www.cdc.gov/melioidosis/symptoms/index.html] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "acute and fulminating melioidosis" EXACT [] synonym: "Nightcliff gardener's disease" EXACT [] synonym: "Pseudoglanders" EXACT [] synonym: "subacute and chronic melioidosis" EXACT [] synonym: "Whitmore's disease" EXACT [] xref: GARD:9546 xref: ICD10CM:A24.9 xref: ICD9CM:025 xref: MESH:D008554 xref: NCI:C128336 xref: SNOMEDCT_US_2023_03_01:428111003 xref: UMLS_CUI:C0025229 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:5053 name: obsolete primary Burkholderia infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:5055 name: obsolete neuronal and mixed neuronal-glial tumor of cerebellum is_obsolete: true [Term] id: DOID:5056 name: adult cerebellar neoplasm subset: NCIthesaurus synonym: "tumor of adult Cerebellum" EXACT [] xref: NCI:C5968 xref: UMLS_CUI:C1332197 is_a: DOID:4205 ! cerebellum cancer [Term] id: DOID:5057 name: papillary meningioma of the cerebellum subset: NCIthesaurus synonym: "Papillary meningioma of Cerebellum" EXACT [] xref: NCI:C5270 xref: UMLS_CUI:C1332902 is_a: DOID:0060106 ! brain meningioma is_a: DOID:4205 ! cerebellum cancer is_a: DOID:5058 ! rhabdoid meningioma [Term] id: DOID:5058 name: rhabdoid meningioma subset: NCIthesaurus synonym: "meningioma, rhabdoid" EXACT [] synonym: "Papillary meningioma" EXACT [] xref: NCI:C6909 xref: SNOMEDCT_US_2023_03_01:399469000 xref: UMLS_CUI:C0259786 is_a: DOID:3565 ! meningioma [Term] id: DOID:5059 name: childhood cerebellar neoplasm subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric tumor of Cerebellum" EXACT [] xref: NCI:C5970 xref: UMLS_CUI:C1332959 is_a: DOID:4205 ! cerebellum cancer [Term] id: DOID:5062 name: phencyclidine abuse def: "A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences." [url:http\://en.wikipedia.org/wiki/Phencyclidine] synonym: "PCP abuse" EXACT [] xref: MESH:D010623 xref: SNOMEDCT_US_2023_03_01:7071007 xref: UMLS_CUI:C0031391 is_a: DOID:302 ! substance abuse [Term] id: DOID:5063 name: basosquamous carcinoma subset: NCIthesaurus synonym: "Basisquamous cell carcinoma" EXACT [] synonym: "basosquamous cell carcinoma" EXACT [] synonym: "Metatypical carcinoma" EXACT [] xref: ICDO:8094/3 xref: MESH:D002281 xref: NCI:C2922 xref: SNOMEDCT_US_2023_03_01:37304002 xref: UMLS_CUI:C0007118 is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:5069 name: obsolete uterine corpus soft tissue neoplasm is_obsolete: true [Term] id: DOID:507 name: adjustment disorder def: "A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred." [url:http\://en.wikipedia.org/wiki/Adjustment_disorder, url:http\://www.mayoclinic.org/diseases-conditions/adjustment-disorders/basics/definition/con-20031704, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000932.htm] synonym: "adjustment disease" EXACT [] synonym: "adjustment reaction" EXACT [] xref: ICD9CM:309 xref: SNOMEDCT_US_2023_03_01:17226007 xref: UMLS_CUI:C0040701 is_a: DOID:150 ! disease of mental health [Term] id: DOID:5070 name: obsolete neoplasm of body of uterus synonym: "neoplasm of body of uterus (disorder)" EXACT [] synonym: "tumor of Corpus Uteri" EXACT [] is_obsolete: true [Term] id: DOID:5071 name: obsolete central nervous system soft tissue neoplasm synonym: "soft tissue tumor of the CNS" EXACT [] is_obsolete: true [Term] id: DOID:5072 name: obsolete meninges gliomatosis synonym: "Gliomatosis of the meninges" EXACT [] is_obsolete: true [Term] id: DOID:5073 name: obsolete malignant neoplasm of meninges synonym: "malignant meningeal neoplasm (morphologic abnormality)" EXACT [] synonym: "malignant Meningeal tumor" EXACT [] synonym: "malignant neoplasm of meninges NOS" EXACT [] synonym: "malignant neoplasm of meninges, unspecified" EXACT [] synonym: "malignant neoplasm of meninges, unspecified (disorder)" EXACT [] synonym: "malignant tumor of meninges (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:5074 name: high grade ependymoma alt_id: DOID:0060107 def: "A high grade glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain." [url:http\://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Ependymal neoplasm" EXACT [] synonym: "ependymal tumors" EXACT [] synonym: "malignant ependymoma" EXACT [] xref: ICDO:9391/3 xref: NCI:C6770 xref: UMLS_CUI:C1333407 is_a: DOID:3070 ! high grade glioma is_a: DOID:3541 ! cerebral ventricle cancer [Term] id: DOID:5075 name: myxopapillary ependymoma subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10633 xref: ICDO:9394/1 xref: MESH:D004806 xref: NCI:C3697 xref: SNOMEDCT_US_2023_03_01:1623000 xref: UMLS_CUI:C0205769 is_a: DOID:4844 ! benign ependymoma [Term] id: DOID:5076 name: mixed glioma subset: NCIthesaurus synonym: "mixed gliomas" EXACT [] synonym: "mixed Neuroglial tumor" EXACT [] xref: MESH:D005910 xref: NCI:C3903 xref: SNOMEDCT_US_2023_03_01:443937008 xref: UMLS_CUI:C0259783 is_a: DOID:3070 ! high grade glioma [Term] id: DOID:5077 name: subependymal giant cell astrocytoma subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "SEGA" EXACT OMO:0003012 [] xref: GARD:10632 xref: ICDO:9384/1 xref: MESH:D001254 xref: NCI:C3696 xref: SNOMEDCT_US_2023_03_01:449799008 xref: UMLS_CUI:C0205768 is_a: DOID:4843 ! subependymal glioma [Term] id: DOID:5078 name: ganglioglioma alt_id: DOID:5606 alt_id: DOID:5607 def: "A cell type benign neoplasm that has_material_basis_in glial-type cells." [url:http\://en.wikipedia.org/wiki/Ganglioglioma, url:http\://www.stjude.org/stjude/v/index.jsp?vgnextoid=7e0d061585f70110VgnVCM1000001e0215acRCRD] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "adult ganglioglioma" EXACT [] synonym: "childhood ganglioglioma" EXACT [] synonym: "CNS ganglioglioma" EXACT [] xref: GARD:2430 xref: ICDO:9505/1 xref: MESH:D018303 xref: NCI:C27362 xref: NCI:C27363 xref: NCI:C3788 xref: SNOMEDCT_US_2023_03_01:87191000119100 xref: UMLS_CUI:C0206716 xref: UMLS_CUI:C1332202 xref: UMLS_CUI:C1332969 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:0060090 ! central nervous system benign neoplasm [Term] id: DOID:5082 name: liver cirrhosis subset: NCIthesaurus synonym: "Cirrhosis" EXACT [] synonym: "cirrhosis of liver" EXACT [] xref: EFO:0001422 xref: ICD10CM:K74.60 xref: MESH:D008103 xref: NCI:C2951 xref: SNOMEDCT_US_2023_03_01:19943007 xref: UMLS_CUI:C0023890 is_a: DOID:409 ! liver disease [Term] id: DOID:5083 name: iodine hypothyroidism xref: ICD9CM:244.2 xref: SNOMEDCT_US_2023_03_01:190279008 xref: UMLS_CUI:C0154159 is_a: DOID:1459 ! hypothyroidism [Term] id: DOID:5085 name: obsolete transmissible gastroenteritis of swine def: "A viral infectious disease that results_in inflammation located_in stomach and located_in intestine in pigs, has_material_basis_in Transmissible gastroenteritis virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom vomiting, has_symptom watery yellow diarrhea, has_symptom weight loss, and has_symptom dehydration." [url:http\://www.addl.purdue.edu/newsletters/2008/Fall/TGE.htm] is_obsolete: true [Term] id: DOID:5086 name: obsolete transmissible enteritis of turkeys def: "A viral infectious disease that results_in inflammation located_in intestine of turkeys, has_material_basis_in Turkey coronavirus, which is transmitted_by ingestion of food contaminated with feces, or transmitted_by fomites contaminated with feces. The infection has_symptom diarrhea, has_symptom anorexia, has_symptom decreased weight, and has_symptom depression." [url:http\://books.google.com/books?id=oBloqeMWktMC&pg=PA300&lpg] synonym: "Bluecomb disease (disorder)" EXACT [] synonym: "mud fever" EXACT [] is_obsolete: true [Term] id: DOID:5087 name: obsolete feline infectious peritonitis def: "A viral infectious disease that results_in infection in cats, located_in peritoneum, has_material_basis_in Feline infectious peritonitis virus, which is transmitted_by contact with the infected cat, and transmitted_by congenital method. The infection has_symptom sneezing, has_symptom watery eyes, has_symptom nasal discharge, and has_symptom accumulation of fluid in the abdomen." [url:http\://www.vet.cornell.edu/fhc/brochures/fip.html] is_obsolete: true [Term] id: DOID:5088 name: mixed epithelial stromal tumour subset: NCIthesaurus xref: NCI:C37265 xref: UMLS_CUI:C1334602 is_a: DOID:154 ! mixed cell type cancer [Term] id: DOID:5090 name: sternum cancer alt_id: DOID:6763 def: "A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum." [url:http\://www.cancer.gov/dictionary/?CdrID=482347] subset: NCIthesaurus xref: NCI:C6730 xref: NCI:C8408 xref: SNOMEDCT_US_2023_03_01:126559003 xref: UMLS_CUI:C1290244 xref: UMLS_CUI:C1382025 is_a: DOID:184 ! bone cancer [Term] id: DOID:5093 name: thoracic cancer alt_id: DOID:3937 def: "An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall." [url:https\://radonc.ucsf.edu/thoracic-cancers] subset: NCIthesaurus synonym: "Thoracic tumor" EXACT [] synonym: "thorax cancer" EXACT [] synonym: "thorax neoplasm" EXACT [] synonym: "tumor of thorax" EXACT [] xref: ICD10CM:C76.1 xref: ICD9CM:195.1 xref: MESH:D013899 xref: NCI:C3406 xref: NCI:C3576 xref: SNOMEDCT_US_2023_03_01:188361007 xref: SNOMEDCT_US_2023_03_01:255058005 xref: UMLS_CUI:C0039981 xref: UMLS_CUI:C0153661 is_a: DOID:0050686 ! organ system cancer is_a: DOID:0060118 ! thoracic disease [Term] id: DOID:5097 name: obsolete axillary cancer synonym: "Axillary neoplasm" EXACT [] synonym: "neoplasm of axilla (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:5099 name: middle ear cancer def: "An ear cancer that is located_in the middle ear." [url:http\://my.clevelandclinic.org/services/head-neck/diseases-conditions/tumors] subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "neoplasm of middle ear" EXACT [] synonym: "tumor of the middle ear" EXACT [] xref: NCI:C4412 xref: SNOMEDCT_US_2023_03_01:127006003 xref: UMLS_CUI:C0345617 is_a: DOID:5100 ! middle ear disease is_a: DOID:5101 ! ear cancer [Term] id: DOID:5100 name: middle ear disease subset: NCIthesaurus xref: NCI:C27065 xref: SNOMEDCT_US_2023_03_01:155260002 xref: UMLS_CUI:C0271428 is_a: DOID:2742 ! auditory system disease [Term] id: DOID:5101 name: ear cancer synonym: "auricular cancer" EXACT [] synonym: "malignant ear neoplasm" EXACT [] synonym: "malignant tumor of ear" EXACT [] xref: MESH:D004428 xref: UMLS_CUI:C0751094 is_a: DOID:833 ! auditory system cancer [Term] id: DOID:5102 name: inner ear cancer def: "An ear cancer located_in the inner ear." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C39784&key=1800983797&b=1&n=null] subset: NCIthesaurus xref: NCI:C39784 xref: UMLS_CUI:C1512779 is_a: DOID:2952 ! inner ear disease is_a: DOID:5101 ! ear cancer [Term] id: DOID:5104 name: testicular infarct subset: NCIthesaurus synonym: "infarction of testis" EXACT [] synonym: "testicular infarction" EXACT [] xref: NCI:C27617 xref: SNOMEDCT_US_2023_03_01:33793000 xref: UMLS_CUI:C0392041 is_a: DOID:2519 ! testicular disease [Term] id: DOID:5107 name: obsolete achromic nevus synonym: "Achromic nevus (disorder)" EXACT [] synonym: "Nonpigmented nevus" EXACT [] synonym: "Nonpigmented nevus (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:5112 name: copper deficiency myelopathy def: "A nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, has_symptom imbalance and jerking movements, and has_material_basis_in copper deficiency possibly due to malabsorption or excess zinc ingestion." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4612215/, url:https\://www.ncbi.nlm.nih.gov/pubmed/17036563] synonym: "human swayback" EXACT [] xref: MESH:D013540 xref: SNOMEDCT_US_2023_03_01:78714004 xref: UMLS_CUI:C0038981 is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:5113 name: nutritional deficiency disease alt_id: DOID:13121 def: "A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content." [url:https\://medlineplus.gov/malnutrition.html] xref: MESH:D003677 xref: UMLS_CUI:C0011156 is_a: DOID:374 ! nutrition disease [Term] id: DOID:5115 name: obsolete bovine virus diarrhea-mucosal disease def: "A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea." [url:http\://www.inta.gov.ar/balcarce/info/documentos/ganaderia/bovinos/sanidad/enf_repro/OdeonBVDV.pdf] is_obsolete: true [Term] id: DOID:5116 name: obsolete central nervous system dermoid cyst synonym: "Dermoid Cyst of the CNS" EXACT [] is_obsolete: true [Term] id: DOID:5117 name: dermoid cyst of ovary def: "A dermoid cyst that is located_in the ovary." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24056662] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Dermoid cyst" EXACT [] synonym: "Ovarian Dermoid Cyst" EXACT [] xref: MESH:C562731 xref: MIM:166950 xref: NCI:C3856 xref: SNOMEDCT_US_2023_03_01:189116006 xref: UMLS_CUI:C0237020 is_a: DOID:0060112 ! ovarian benign neoplasm is_a: DOID:2658 ! dermoid cyst [Term] id: DOID:5118 name: ovarian cystic teratoma def: "A cystic teratoma that is located_in the ovary." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22902841] subset: NCIthesaurus xref: NCI:C7283 xref: UMLS_CUI:C1335155 is_a: DOID:6231 ! mature teratoma of the ovary [Term] id: DOID:5119 name: ovarian cyst def: "An ovarian disease that is characterized by the presence of a fluid-filled sac and is located_in the ovary." [url:https\://en.wikipedia.org/wiki/Ovarian_cyst] xref: ICD10CM:N83.2 xref: ICD9CM:620.2 xref: SNOMEDCT_US_2023_03_01:198586000 xref: UMLS_CUI:C0029513 is_a: DOID:1100 ! ovarian disease [Term] id: DOID:512 name: epididymal neoplasm subset: NCIthesaurus synonym: "neoplasm of epididymis" EXACT [] xref: NCI:C39958 xref: SNOMEDCT_US_2023_03_01:126902008 xref: UMLS_CUI:C0346239 is_a: DOID:2998 ! testicular cancer [Term] id: DOID:5120 name: obsolete Roseolovirus infectious disease def: "A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7." [url:http\://en.wikipedia.org/wiki/Roseolovirus] is_obsolete: true [Term] id: DOID:5123 name: mediastinum leiomyoma def: "A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740108/] subset: NCIthesaurus synonym: "leiomyoma of mediastinum" EXACT [] xref: NCI:C6598 xref: UMLS_CUI:C1334659 is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:127 ! leiomyoma [Term] id: DOID:5124 name: fallopian tube leiomyoma def: "A fallopian tube benign neoplasm that has_material_basis_in smooth muscle cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5137476/] subset: NCIthesaurus xref: NCI:C40127 xref: UMLS_CUI:C1517115 is_a: DOID:0060111 ! fallopian tube benign neoplasm is_a: DOID:127 ! leiomyoma [Term] id: DOID:5125 name: extrahepatic bile duct leiomyoma def: "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11896229] subset: NCIthesaurus synonym: "leiomyoma of the extrahepatic bile duct" EXACT [] xref: NCI:C5855 xref: UMLS_CUI:C1333507 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:127 ! leiomyoma is_a: DOID:4138 ! bile duct disease [Term] id: DOID:5126 name: central nervous system leiomyoma def: "A central nervous system benign neoplasm that derives_from smooth muscle cells." [url:https\://pubmed.ncbi.nlm.nih.gov/30725665/] subset: NCIthesaurus synonym: "leiomyoma of CNS" EXACT [] xref: NCI:C6998 xref: UMLS_CUI:C1334382 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:127 ! leiomyoma [Term] id: DOID:5127 name: bizarre leiomyoma def: "A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures." [url:http\://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Atypical leiomyoma" EXACT [] synonym: "Pleomorphic leiomyoma" EXACT [] synonym: "Symplastic leiomyoma" EXACT [] xref: ICDO:8893/0 xref: NCI:C4257 xref: SNOMEDCT_US_2023_03_01:48897006 xref: UMLS_CUI:C0334478 is_a: DOID:127 ! leiomyoma [Term] id: DOID:5128 name: deep leiomyoma def: "A leiomyoma that is located_in deep soft tissue." [url:http\://surgpathcriteria.stanford.edu/softsmoothmuscle/soft_tissue_leiomyoma/differentialdiagnosis.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/27186256] subset: NCIthesaurus xref: NCI:C6512 xref: UMLS_CUI:C1333266 is_a: DOID:127 ! leiomyoma [Term] id: DOID:5129 name: simple partial epilepsy xref: ICD9CM:345.51 xref: UMLS_CUI:C0154712 is_a: DOID:2234 ! focal epilepsy [Term] id: DOID:5132 name: leiomyoma cutis subset: NCIthesaurus synonym: "Cutaneous leiomyoma" EXACT [] synonym: "leiomyoma of the skin" EXACT [] xref: NCI:C4482 xref: SNOMEDCT_US_2023_03_01:254767008 xref: UMLS_CUI:C0346064 is_a: DOID:2438 ! dermis tumor [Term] id: DOID:5133 name: obsolete skin tumor of smooth muscle origin synonym: "skin tumor of smooth muscle origin (disorder)" EXACT [] synonym: "Smooth Muscle skin neoplasm" EXACT [] is_obsolete: true [Term] id: DOID:5134 name: anus leiomyoma def: "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9187805] subset: NCIthesaurus synonym: "leiomyoma of anus" EXACT [] xref: NCI:C5608 xref: UMLS_CUI:C1332266 is_a: DOID:127 ! leiomyoma is_a: DOID:4551 ! anus benign neoplasm [Term] id: DOID:5136 name: lung leiomyoma def: "A lung benign neoplasm that derives_from some smooth muscle cell." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26941368] subset: NCIthesaurus synonym: "pulmonary leiomyoma" EXACT [] xref: NCI:C5660 xref: SNOMEDCT_US_2023_03_01:707374005 xref: UMLS_CUI:C1334447 is_a: DOID:127 ! leiomyoma is_a: DOID:3683 ! lung benign neoplasm [Term] id: DOID:5137 name: pericardium leiomyoma def: "A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium." [url:https\://www.ncbi.nlm.nih.gov/pubmed/4453980] subset: NCIthesaurus synonym: "leiomyoma of Pericardium" EXACT [] xref: NCI:C6743 xref: UMLS_CUI:C1335380 is_a: DOID:0050829 ! pericardium disease is_a: DOID:0060091 ! cardiovascular organ benign neoplasm is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:127 ! leiomyoma [Term] id: DOID:5138 name: leiomyomatosis def: "A leiomyoma that is multiple and diffuse." [url:https\://ghr.nlm.nih.gov/condition/hereditary-leiomyomatosis-and-renal-cell-cancer] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8890/1 xref: MESH:D018231 xref: NCI:C3748 xref: SNOMEDCT_US_2023_03_01:1157154004 xref: UMLS_CUI:C0206654 is_a: DOID:127 ! leiomyoma [Term] id: DOID:5139 name: cellular leiomyoma def: "A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures." [url:http\://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8892/0 xref: NCI:C4256 xref: SNOMEDCT_US_2023_03_01:90955001 xref: UMLS_CUI:C0334477 is_a: DOID:127 ! leiomyoma [Term] id: DOID:5140 name: gallbladder leiomyoma def: "A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17059154] subset: NCIthesaurus synonym: "leiomyoma of the gallbladder" EXACT [] xref: NCI:C5747 xref: UMLS_CUI:C1333745 is_a: DOID:0080640 ! gallbladder benign neoplasm is_a: DOID:127 ! leiomyoma [Term] id: DOID:5142 name: vulvar leiomyoma def: "A vulvar benign neoplasm that is located_in smooth muscle cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5080524/] subset: NCIthesaurus xref: NCI:C40326 xref: UMLS_CUI:C1520087 is_a: DOID:0060109 ! vulvar benign neoplasm [Term] id: DOID:5143 name: large bowel leiomyoma def: "An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17201349] subset: NCIthesaurus synonym: "leiomyoma of large Intestine" EXACT [] xref: NCI:C5677 xref: SNOMEDCT_US_2023_03_01:1196826007 xref: UMLS_CUI:C1333113 is_a: DOID:127 ! leiomyoma is_a: DOID:4610 ! intestinal benign neoplasm [Term] id: DOID:5146 name: appendix leiomyoma def: "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7414395] subset: NCIthesaurus synonym: "Appendiceal leiomyoma" EXACT [] xref: NCI:C5514 xref: SNOMEDCT_US_2023_03_01:1196825006 xref: UMLS_CUI:C1332327 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:127 ! leiomyoma is_a: DOID:60000 ! appendix disease [Term] id: DOID:5147 name: dartoic leiomyoma def: "A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4483, url:https\://www.ncbi.nlm.nih.gov/pubmed/27529047] subset: NCIthesaurus synonym: "Dartoic myoma" EXACT [] xref: NCI:C4483 xref: SNOMEDCT_US_2023_03_01:254770007 xref: UMLS_CUI:C0346066 is_a: DOID:0050622 ! reproductive organ benign neoplasm [Term] id: DOID:5149 name: epithelioid neurofibroma subset: NCIthesaurus xref: NCI:C6558 xref: SNOMEDCT_US_2023_03_01:404032008 xref: UMLS_CUI:C1275264 is_a: DOID:962 ! neurofibroma [Term] id: DOID:5150 name: neurofibroma of gallbladder subset: NCIthesaurus synonym: "Neurofibroma of the gallbladder" EXACT [] xref: NCI:C5746 xref: UMLS_CUI:C1333751 is_a: DOID:3121 ! gallbladder cancer is_a: DOID:962 ! neurofibroma [Term] id: DOID:5151 name: plexiform neurofibroma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9550/0 xref: MESH:D018318 xref: NCI:C3797 xref: SNOMEDCT_US_2023_03_01:41252002 xref: UMLS_CUI:C0206728 is_a: DOID:962 ! neurofibroma [Term] id: DOID:5152 name: cellular neurofibroma subset: NCIthesaurus xref: NCI:C41427 xref: UMLS_CUI:C1516371 is_a: DOID:962 ! neurofibroma [Term] id: DOID:5153 name: atypical neurofibroma xref: SNOMEDCT_US_2023_03_01:734083001 xref: UMLS_CUI:C1510961 is_a: DOID:962 ! neurofibroma [Term] id: DOID:5154 name: borna disease def: "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment." [url:http\://www.biomedcentral.com/1471-244X/10/70] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease synonym: "Enzootic encephalomyelitis" EXACT [] xref: MESH:D001890 xref: SNOMEDCT_US_2023_03_01:76851008 xref: UMLS_CUI:C0006023 is_a: DOID:331 ! central nervous system disease is_a: DOID:934 ! viral infectious disease property_value: exactMatch "MESH:D001890" xsd:string [Term] id: DOID:5155 name: multiple mucosal neuroma subset: NCIthesaurus xref: NCI:C6559 xref: UMLS_CUI:C1334828 is_a: DOID:2001 ! neuroma [Term] id: DOID:5157 name: benign pleural mesothelioma subset: NCIthesaurus synonym: "Mesothelioma of Pleura" EXACT [] xref: NCI:C9351 xref: UMLS_CUI:C1377913 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:1532 ! pleural disease [Term] id: DOID:5158 name: pleural cancer alt_id: DOID:9917 def: "A connective tissue cancer that located_in the pleura." [url:http\://en.wikipedia.org/wiki/Pleural_cavity] subset: NCIthesaurus synonym: "neoplasm of pleura" EXACT [] synonym: "Pleural tumor" EXACT [] xref: ICD10CM:C38.4 xref: ICD9CM:163 xref: MESH:D010997 xref: NCI:C3332 xref: NCI:C3547 xref: SNOMEDCT_US_2023_03_01:126719004 xref: SNOMEDCT_US_2023_03_01:363433009 xref: UMLS_CUI:C0032229 xref: UMLS_CUI:C0153494 is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:5160 name: arteriosclerosis obliterans xref: MESH:D001162 xref: SNOMEDCT_US_2023_03_01:60625000 xref: UMLS_CUI:C0003851 is_a: DOID:2349 ! arteriosclerosis [Term] id: DOID:5161 name: Monckeberg arteriosclerosis is_a: DOID:2349 ! arteriosclerosis [Term] id: DOID:5162 name: arteriolosclerosis def: "An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia." [url:https\://en.wikipedia.org/wiki/Arteriolosclerosis] subset: NCIthesaurus xref: ICD10CM:I70 xref: MESH:D050379 xref: NCI:C35543 xref: SNOMEDCT_US_2023_03_01:17941002 xref: UMLS_CUI:C0878486 is_a: DOID:2349 ! arteriosclerosis property_value: exactMatch "MESH:D050379" xsd:string [Term] id: DOID:5165 name: uterine corpus sarcoma def: "An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient] subset: DO_rare_slim subset: NCIthesaurus synonym: "sarcoma of Corpus Uteri" EXACT [] synonym: "sarcoma of uterus" EXACT [] xref: GARD:9383 xref: NCI:C6339 xref: SNOMEDCT_US_2023_03_01:254877001 xref: UMLS_CUI:C0338113 is_a: DOID:1115 ! sarcoma is_a: DOID:9460 ! uterine corpus cancer [Term] id: DOID:5166 name: endometrial stromal tumor synonym: "endometrial Stromal neoplasm" EXACT [] xref: MESH:D036821 xref: SNOMEDCT_US_2023_03_01:68738004 xref: UMLS_CUI:C0334695 is_a: DOID:1380 ! endometrial cancer [Term] id: DOID:5169 name: ovarian endometrioid stromal sarcoma def: "An ovary sarcoma that arises from endometrial stromal tissue." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609926/] subset: NCIthesaurus xref: NCI:C40065 xref: UMLS_CUI:C4288544 is_a: DOID:2146 ! ovary sarcoma [Term] id: DOID:5170 name: vaginal endometrial stromal sarcoma def: "A vagina sarcoma that has_material_basis_in endometrial stroma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24294390] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C40270 xref: UMLS_CUI:C3642329 is_a: DOID:1901 ! vagina sarcoma [Term] id: DOID:5171 name: vaginal endometrial stromal tumor def: "A vaginal cancer that has_material_basis_in endometrial stroma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24294390] subset: NCIthesaurus xref: NCI:C40269 xref: UMLS_CUI:C4289585 is_a: DOID:119 ! vaginal cancer [Term] id: DOID:5172 name: endometrium carcinoma in situ def: "An in situ carcinoma that is located_in the endometrium." [url:https\://www.sciencedirect.com/science/article/pii/0002937866903917] synonym: "carcinoma in situ of endometrium" EXACT [] synonym: "endometrial carcinoma in situ" EXACT [] xref: ICD10CM:D07.0 xref: SNOMEDCT_US_2023_03_01:189343006 xref: UMLS_CUI:C0346191 is_a: DOID:289 ! endometriosis is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:5176 name: renal Wilms' tumor subset: DO_cancer_slim subset: NCIthesaurus synonym: "Nonanaplastic renal Wilm's tumor" EXACT [] synonym: "Nonanaplastic renal Wilm's tumour" EXACT [] synonym: "nonanaplastic renal wilms tumor" RELATED [] synonym: "renal Wilms' tumour" EXACT [] xref: NCI:C6951 xref: UMLS_CUI:C1335062 is_a: DOID:2154 ! nephroblastoma [Term] id: DOID:5178 name: metachronous kidney Wilms' tumor subset: NCIthesaurus synonym: "metachronous Wilms tumor of the kidney" RELATED [] xref: NCI:C38158 xref: UMLS_CUI:C1334705 is_a: DOID:2154 ! nephroblastoma [Term] id: DOID:5179 name: mixed cell type kidney Wilms' tumor subset: NCIthesaurus synonym: "mixed cell type kidney Wilms' tumour" EXACT [] synonym: "mixed cell type renal Wilms tumor" EXACT [] synonym: "mixed cell type renal Wilms tumour" EXACT [] xref: NCI:C9149 xref: UMLS_CUI:C0279611 is_a: DOID:2154 ! nephroblastoma [Term] id: DOID:518 name: scrotum neoplasm alt_id: DOID:13158 subset: NCIthesaurus synonym: "malignant Scrotal neoplasm" EXACT [] synonym: "malignant tumor of scrotum" EXACT [] synonym: "malignant tumour of scrotum" EXACT [] synonym: "neoplasm of scrotum" EXACT [] synonym: "Scrotal Ca" EXACT [] synonym: "Scrotal tumor" EXACT [] synonym: "scrotum cancer" EXACT [] xref: ICD10CM:C63.2 xref: ICD9CM:187.7 xref: NCI:C3560 xref: NCI:C4380 xref: SNOMEDCT_US_2023_03_01:126905005 xref: SNOMEDCT_US_2023_03_01:93999006 xref: UMLS_CUI:C0153604 xref: UMLS_CUI:C0341790 is_a: DOID:3856 ! male reproductive organ cancer [Term] id: DOID:5182 name: blastema predominant kidney Wilms' tumor subset: NCIthesaurus synonym: "blastema predominant kidney adenosarcoma" EXACT [] synonym: "blastema predominant kidney Wilms' tumour" EXACT [] synonym: "Blastema Predominant renal Wilms tumor" EXACT [] synonym: "Blastema Predominant renal Wilms tumour" EXACT [] xref: NCI:C9147 xref: UMLS_CUI:C0279609 is_a: DOID:2154 ! nephroblastoma [Term] id: DOID:5183 name: hereditary Wilms' tumor def: "A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour." [url:http\://www.cancerindex.org/geneweb/X210202.htm] subset: NCIthesaurus synonym: "Hereditary Wilms tumor" EXACT [] synonym: "Hereditary Wilms tumour" EXACT [] synonym: "hereditary Wilms' tumour" EXACT [] synonym: "WT1" EXACT OMO:0003012 [] xref: NCI:C8496 xref: UMLS_CUI:C0677779 is_a: DOID:2154 ! nephroblastoma [Term] id: DOID:5184 name: obsolete recurrent nephroblastoma def: "A nephroblastoma that recurs over time." [url:https\://health.google.com/health/ref/Wilms+tumor] synonym: "relapsed renal Wilms' tumor" EXACT [] is_obsolete: true [Term] id: DOID:5185 name: obsolete anaplastic renal Wilms' tumor def: "A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted." [url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1x_What_is_wilms_tumor_46.asp] synonym: "anaplastic renal Wilm's tumor" EXACT [] synonym: "anaplastic renal Wilms tumor" RELATED [] is_obsolete: true [Term] id: DOID:5189 name: epithelial predominant Wilms' tumor subset: NCIthesaurus synonym: "epithelial predominant kidney adenosarcoma" EXACT [] synonym: "epithelial Predominant renal Wilms tumor" EXACT [] synonym: "epithelial Predominant renal Wilms tumour" EXACT [] synonym: "epithelial predominant Wilms' tumour" EXACT [] xref: NCI:C9146 xref: UMLS_CUI:C0279608 is_a: DOID:2154 ! nephroblastoma [Term] id: DOID:519 name: aortitis subset: NCIthesaurus xref: ICD10CM:I77.6 xref: MESH:D001025 xref: NCI:C97085 xref: SNOMEDCT_US_2023_03_01:195368003 xref: UMLS_CUI:C0003509 is_a: DOID:520 ! aortic disease [Term] id: DOID:5190 name: cervical Wilms' tumor def: "A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10620450] subset: NCIthesaurus synonym: "cervical Wilms tumor" RELATED [] xref: NCI:C40236 xref: UMLS_CUI:C1516437 is_a: DOID:4112 ! cervical carcinosarcoma [Term] id: DOID:5191 name: stromal predominant kidney Wilms' tumor subset: NCIthesaurus synonym: "stromal predominant kidney Wilms' tumour" EXACT [] synonym: "Stromal Predominant renal Wilms tumor" EXACT [] synonym: "Stromal Predominant renal Wilms tumour" EXACT [] xref: NCI:C9148 xref: UMLS_CUI:C0279610 is_a: DOID:2154 ! nephroblastoma [Term] id: DOID:5193 name: nodular ganglioneuroblastoma subset: NCIthesaurus xref: NCI:C42058 xref: SNOMEDCT_US_2023_03_01:822950002 xref: UMLS_CUI:C1517445 is_a: DOID:4163 ! ganglioneuroblastoma [Term] id: DOID:5194 name: intermixed schwannian stroma-rich ganglioneuroblastoma subset: NCIthesaurus xref: NCI:C42057 xref: SNOMEDCT_US_2023_03_01:822951003 xref: UMLS_CUI:C1517444 is_a: DOID:4163 ! ganglioneuroblastoma [Term] id: DOID:5195 name: peripheral nervous system ganglioneuroblastoma subset: NCIthesaurus synonym: "PNS Ganglioneuroblastoma" EXACT [] xref: NCI:C6594 xref: UMLS_CUI:C1335387 is_a: DOID:4163 ! ganglioneuroblastoma [Term] id: DOID:5196 name: fallopian tube adenomatoid tumor def: "A fallopian tube benign neoplasm that derives_from mesothelium." [url:https\://www.ncbi.nlm.nih.gov/pubmed/13222203] subset: NCIthesaurus xref: NCI:C40129 xref: UMLS_CUI:C1517110 is_a: DOID:0060111 ! fallopian tube benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:5199 name: ureteral obstruction xref: ICD9CM:593.4 xref: SNOMEDCT_US_2023_03_01:197807001 xref: UMLS_CUI:C0029866 is_a: DOID:1426 ! ureteral disease is_a: DOID:5200 ! urinary tract obstruction [Term] id: DOID:520 name: aortic disease def: "An artery disease that is characterized by degeneration of the cells composing the aortic wall." [url:http\://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/aorta.html] subset: NCIthesaurus synonym: "aortic disorder" EXACT [] synonym: "disorder of the aorta" EXACT [] xref: MESH:D001018 xref: NCI:C101253 xref: SNOMEDCT_US_2023_03_01:47040006 xref: UMLS_CUI:C0003493 is_a: DOID:0050828 ! artery disease [Term] id: DOID:5200 name: urinary tract obstruction subset: NCIthesaurus synonym: "Obstructive Uropathy" EXACT [] synonym: "urinary obstruction" EXACT [] xref: ICD10CM:N13.9 xref: ICD9CM:599.6 xref: NCI:C79805 xref: SNOMEDCT_US_2023_03_01:7163005 xref: UMLS_CUI:C0178879 is_a: DOID:18 ! urinary system disease [Term] id: DOID:5204 name: fructose-1,6-bisphosphatase deficiency def: "A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis." [url:http\://en.wikipedia.org/wiki/Fructose-1\,6-bisphosphatase_deficiency, url:http\://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "fructose 1 phosphate aldolase deficiency" EXACT [] synonym: "fructose-1,6-diphosphatase deficiency" EXACT [] xref: GARD:2400 xref: ICD10CM:E74.19 xref: MESH:D015319 xref: MIM:229700 xref: NCI:C128119 xref: SNOMEDCT_US_2023_03_01:28183005 xref: UMLS_CUI:C0016756 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:5205 name: obsolete inborn errors fructose metabolism is_obsolete: true [Term] id: DOID:5207 name: monodermal teratoma def: "An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm)." [url:https\://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475] subset: NCIthesaurus synonym: "Ovarian Monodermal teratoma" EXACT [] xref: NCI:C7286 xref: SNOMEDCT_US_2023_03_01:399632009 xref: UMLS_CUI:C1302569 is_a: DOID:5567 ! ovarian germ cell teratoma [Term] id: DOID:5208 name: malignant struma ovarii def: "A struma ovarii that is cancerous." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25640097] subset: NCIthesaurus synonym: "Struma ovarii, malignant" EXACT [] xref: NCI:C4291 xref: SNOMEDCT_US_2023_03_01:18854008 xref: UMLS_CUI:C0334525 is_a: DOID:2641 ! ovarian germ cell monodermal and highly specialized teratoma [Term] id: DOID:5209 name: obsolete benign struma ovarii def: "An ovarian benign neoplasm struma ovarii that is not cancerous and that is composed either exclusively or predominantly of thyroid tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25640097] comment: Obsoleted in conjunction with obsoletion of corresponding cross-references (version): NCI:C40012 (29.08d), UMLS_CUI:C1511104 (2023AA). 'struma ovarii' is considered benign making this term redundant. is_obsolete: true replaced_by: DOID:2640 [Term] id: DOID:5212 name: congenital disorder of glycosylation def: "A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids." [url:http\://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "carbohydrate-deficient glycoprotein syndrome" EXACT [] xref: GARD:10307 xref: MESH:D018981 xref: NCI:C84615 xref: ORDO:137 xref: SNOMEDCT_US_2023_03_01:238049009 xref: UMLS_CUI:C0282577 is_a: DOID:0080015 ! physical disorder is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:5213 name: chronic inflammatory demyelinating polyradiculoneuropathy def: "An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers." [url:https\://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6102 xref: ICD10CM:G61.81 xref: ICD9CM:357.81 xref: MESH:D020277 xref: NCI:C84636 xref: SNOMEDCT_US_2023_03_01:128209004 xref: UMLS_CUI:C0393819 is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system [Term] id: DOID:5214 name: demyelinating polyneuropathy subset: NCIthesaurus synonym: "peripheral demyelinating neuropathy" EXACT [] xref: NCI:C27062 xref: SNOMEDCT_US_2023_03_01:23414001 xref: UMLS_CUI:C0270922 is_a: DOID:1389 ! polyneuropathy [Term] id: DOID:5215 name: obsolete ephemeral fever def: "A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation." [url:http\://en.wikipedia.org/wiki/Bovine_ephemeral_fever, url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/bovine_ephemeral_fever.pdf] synonym: "Bovine ephemeral fever" EXACT [] synonym: "Ephemeral fever of cattle" EXACT [] synonym: "Three-Day Sickness" EXACT [] synonym: "Three-Day Stiffsickness" EXACT [] is_obsolete: true [Term] id: DOID:5221 name: chronic polyneuropathy subset: NCIthesaurus xref: NCI:C36071 xref: UMLS_CUI:C1167650 is_a: DOID:1389 ! polyneuropathy [Term] id: DOID:5222 name: acute necrotizing encephalitis subset: NCIthesaurus xref: MESH:D004684 xref: NCI:C35383 xref: SNOMEDCT_US_2023_03_01:111897007 xref: UMLS_CUI:C0338418 is_a: DOID:9588 ! encephalitis [Term] id: DOID:5223 name: infertility subset: NCIthesaurus xref: MESH:D007246 xref: NCI:C3836 xref: SNOMEDCT_US_2023_03_01:8619003 xref: UMLS_CUI:C0021359 is_a: DOID:15 ! reproductive system disease [Term] id: DOID:5224 name: acute hemorrhagic encephalitis subset: NCIthesaurus xref: NCI:C35796 xref: UMLS_CUI:C1332149 is_a: DOID:9588 ! encephalitis [Term] id: DOID:5225 name: von Economo's disease subset: NCIthesaurus synonym: "Encephalitis lethargica" EXACT [] synonym: "von Economo disease" EXACT [] xref: ICD10CM:A85.8 xref: NCI:C26761 xref: SNOMEDCT_US_2023_03_01:20411005 xref: UMLS_CUI:C0014040 is_a: DOID:9588 ! encephalitis [Term] id: DOID:5226 name: obsolete vaginal blue nevus is_obsolete: true [Term] id: DOID:5227 name: obsolete cellular blue nevus synonym: "cellular blue nevus (morphologic abnormality)" EXACT [] synonym: "cellular blue nevus of skin (disorder)" EXACT [] synonym: "cellular Blue nevus of the skin" EXACT [] is_obsolete: true [Term] id: DOID:5228 name: obsolete common blue nevus synonym: "Blue nevus of Jadassohn-Tieche" RELATED [] synonym: "Common Blue nevus" EXACT [] synonym: "Common blue nevus of skin (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:5230 name: hepatoerythropoietic porphyria subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6169 xref: MESH:D017121 xref: NCI:C84754 xref: ORDO:95159 xref: SNOMEDCT_US_2023_03_01:111386004 xref: UMLS_CUI:C0162569 is_a: DOID:3133 ! acute porphyria [Term] id: DOID:5231 name: obsolete peritoneal and retroperitoneal tumors is_obsolete: true [Term] id: DOID:5232 name: aortic valve prolapse xref: MESH:D001023 xref: UMLS_CUI:C0003505 is_a: DOID:62 ! aortic valve disease [Term] id: DOID:5233 name: glomangiosarcoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "malignant Glomus neoplasm" EXACT [] xref: ICDO:8710/3 xref: NCI:C4221 xref: SNOMEDCT_US_2023_03_01:128908003 xref: UMLS_CUI:C1266111 is_a: DOID:2431 ! glomus tumor [Term] id: DOID:5236 name: subungual glomus tumor subset: NCIthesaurus synonym: "subungual glomus tumour" EXACT [] xref: NCI:C36079 xref: SNOMEDCT_US_2023_03_01:403973004 xref: UMLS_CUI:C1304510 is_a: DOID:2431 ! glomus tumor [Term] id: DOID:5238 name: benign perivascular tumor subset: NCIthesaurus xref: NCI:C6529 xref: UMLS_CUI:C1332532 is_a: DOID:0060091 ! cardiovascular organ benign neoplasm [Term] id: DOID:5239 name: obsolete glomus tumor of uncertain malignant potential is_obsolete: true [Term] id: DOID:524 name: obsolete central nervous system AIDS arteritis def: "A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2." [url:http\://jnnp.bmj.com/content/80/8/831.long] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:5240 name: retinal hemangioblastoma subset: NCIthesaurus synonym: "Capillary hemangioma of retina" EXACT [] xref: NCI:C39783 xref: SNOMEDCT_US_2023_03_01:312935003 xref: UMLS_CUI:C0730303 is_a: DOID:0050687 ! cell type cancer is_a: DOID:4645 ! retinal cancer [Term] id: DOID:5241 name: hemangioblastoma subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Capillary Hemangioblastoma" EXACT [] xref: GARD:8232 xref: GARD:8522 xref: ICDO:9161/1 xref: MESH:D018325 xref: NCI:C3801 xref: SNOMEDCT_US_2023_03_01:81201000 xref: UMLS_CUI:C0206734 is_a: DOID:255 ! hemangioma [Term] id: DOID:5242 name: obsolete resectable cholangiocellular carcinoma is_obsolete: true [Term] id: DOID:5244 name: obsolete visual alteration is_obsolete: true [Term] id: DOID:5245 name: obsolete recurrent cholangiocellular carcinoma is_obsolete: true [Term] id: DOID:5246 name: obsolete hilar cholangiocellular carcinoma is_obsolete: true [Term] id: DOID:5247 name: obsolete liver fluke-related cholangiocarcinoma synonym: "Opisthorchis Viverrini-Related Cholangiocellular carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:5248 name: obsolete parasite-related carcinoma is_obsolete: true [Term] id: DOID:525 name: central nervous system vasculitis def: "A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine." [url:https\://my.clevelandclinic.org/health/diseases/13205-central-nervous-system-vasculitis] subset: NCIthesaurus xref: MESH:D020293 xref: NCI:C84622 xref: UMLS_CUI:C0751878 is_a: DOID:331 ! central nervous system disease is_a: DOID:865 ! vasculitis [Term] id: DOID:5250 name: obsolete non-resectable cholangiocellular carcinoma is_obsolete: true [Term] id: DOID:5251 name: inflammatory leiomyosarcoma def: "A leiomyosarcoma that is characterized by a prominent intristic inflammatory component." [url:https\://www.nature.com/articles/modpathol2017113] subset: NCIthesaurus xref: NCI:C27495 xref: UMLS_CUI:C1334179 is_a: DOID:1967 ! leiomyosarcoma [Term] id: DOID:5252 name: obsolete leiomyosarcoma recurrent synonym: "relapsed leiomyosarcoma" EXACT [] is_obsolete: true [Term] id: DOID:5253 name: conventional leiomyosarcoma def: "A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma." [url:https\://www.mayoclinic.org/diseases-conditions/leiomyosarcoma/cdc-20387733] subset: NCIthesaurus xref: NCI:C9428 xref: UMLS_CUI:C1333157 is_a: DOID:1967 ! leiomyosarcoma [Term] id: DOID:5254 name: central nervous system leiomyosarcoma def: "A leiomyosarcoma that is located_in the central nervous system." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10761660] subset: NCIthesaurus synonym: "leiomyosarcoma of the CNS" EXACT [] xref: NCI:C6999 xref: UMLS_CUI:C1334385 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:502 ! central nervous system mesenchymal non-meningothelial tumor [Term] id: DOID:5255 name: obsolete leiomyosarcoma nonmetastatic synonym: "Non-metastatic leiomyosarcoma" EXACT [] is_obsolete: true [Term] id: DOID:5258 name: granular cell leiomyosarcoma def: "A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3232754] subset: NCIthesaurus xref: NCI:C27494 xref: UMLS_CUI:C1333871 is_a: DOID:1967 ! leiomyosarcoma [Term] id: DOID:5259 name: colon leiomyosarcoma def: "A leiomyosarcoma and sarcoma of colon that is located_in the colon." [url:http\://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm] subset: NCIthesaurus synonym: "Colonic leiomyosarcoma" EXACT [] xref: NCI:C5494 xref: SNOMEDCT_US_2023_03_01:1156788007 xref: UMLS_CUI:C1333093 is_a: DOID:1967 ! leiomyosarcoma [Term] id: DOID:526 name: human immunodeficiency virus infectious disease def: "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands." [url:http\://en.wikipedia.org/wiki/HIV, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000602.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "HIV infection" EXACT [] xref: ICD10CM:B20 xref: ICD9CM:042-042.99 xref: MESH:D015658 xref: NCI:C3108 xref: SNOMEDCT_US_2023_03_01:86406008 xref: UMLS_CUI:C0019693 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:5260 name: colon sarcoma def: "A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon." [url:https\://pubmed.ncbi.nlm.nih.gov/31243197/] subset: NCIthesaurus synonym: "Colonic sarcoma" EXACT [] xref: NCI:C5495 xref: UMLS_CUI:C1333098 is_a: DOID:1115 ! sarcoma is_a: DOID:219 ! colon cancer [Term] id: DOID:5261 name: heart leiomyosarcoma subset: NCIthesaurus synonym: "leiomyosarcoma of Heart" EXACT [] xref: NCI:C5364 xref: UMLS_CUI:C1332848 is_a: DOID:5262 ! heart sarcoma [Term] id: DOID:5262 name: heart sarcoma def: "A sarcoma and malignant neoplasm of heart that is located_in the heart." [url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/sarcoma/cardiac-sarcoma] subset: NCIthesaurus synonym: "cardiac sarcoma" EXACT [] synonym: "sarcoma of Heart" EXACT [] xref: NCI:C7723 xref: UMLS_CUI:C0238152 is_a: DOID:117 ! heart cancer [Term] id: DOID:5263 name: ovary leiomyosarcoma def: "An ovary sarcoma that arises from smooth muscle progenitors." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22873115] subset: NCIthesaurus synonym: "leiomyosarcoma of Ovary" EXACT [] xref: NCI:C5234 xref: UMLS_CUI:C1335163 is_a: DOID:1967 ! leiomyosarcoma [Term] id: DOID:5264 name: epithelioid leiomyosarcoma def: "A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28288693] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8891/3 xref: MESH:D007890 xref: NCI:C3700 xref: SNOMEDCT_US_2023_03_01:42392001 xref: UMLS_CUI:C0205815 is_a: DOID:1967 ! leiomyosarcoma [Term] id: DOID:5265 name: lung leiomyosarcoma def: "A leiomyosarcoma and sarcoma of lung that is located_in the lung." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774417/] subset: NCIthesaurus synonym: "pulmonary leiomyosarcoma" EXACT [] xref: NCI:C5667 xref: UMLS_CUI:C1334448 is_a: DOID:1967 ! leiomyosarcoma [Term] id: DOID:5266 name: obsolete leiomyosarcoma metastatic is_obsolete: true [Term] id: DOID:5267 name: anus leiomyosarcoma def: "A leiomyosarcoma and sarcoma of the anus that is located_in the anus." [url:http\://www.springerlink.com/content/t57853114066u8n8/] subset: NCIthesaurus synonym: "leiomyosarcoma of anus" EXACT [] xref: NCI:C5599 xref: UMLS_CUI:C1332267 is_a: DOID:1967 ! leiomyosarcoma [Term] id: DOID:5268 name: myxoid leiomyosarcoma def: "A leiomyosarcoma that is characterized by abundant myxoid stroma." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/leiomyosarcoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/26866354] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8896/3 xref: MESH:D007890 xref: NCI:C3701 xref: SNOMEDCT_US_2023_03_01:189792003 xref: UMLS_CUI:C0205816 is_a: DOID:1967 ! leiomyosarcoma [Term] id: DOID:5271 name: small intestine leiomyosarcoma def: "A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines." [url:http\://en.wikipedia.org/wiki/Leiomyosarcoma] subset: NCIthesaurus synonym: "leiomyosarcoma of the small Bowel" EXACT [] synonym: "smooth muscle connective tissue tumor" RELATED [] xref: NCI:C7085 xref: SNOMEDCT_US_2023_03_01:716651004 xref: UMLS_CUI:C0920305 is_a: DOID:10154 ! small intestine cancer is_a: DOID:1967 ! leiomyosarcoma [Term] id: DOID:5272 name: small intestinal sarcoma def: "A sarcoma and malignant tumor of small intestine that is located_in the small intestine." [url:http\://www.cancer.gov/cancertopics/types/smallintestine] subset: NCIthesaurus synonym: "sarcoma of the Small Intestine" EXACT [] xref: NCI:C5335 xref: UMLS_CUI:C1336007 is_a: DOID:10154 ! small intestine cancer [Term] id: DOID:5273 name: cutaneous leiomyosarcoma subset: NCIthesaurus synonym: "leiomyosarcoma of the skin" EXACT [] xref: NCI:C4484 xref: SNOMEDCT_US_2023_03_01:254771006 xref: UMLS_CUI:C0346067 is_a: DOID:2687 ! skin sarcoma [Term] id: DOID:5274 name: malignant dermis tumor subset: NCIthesaurus synonym: "malignant dermis tumour" EXACT [] synonym: "malignant neoplasm of Dermis" EXACT [] synonym: "malignant tumor of dermis" EXACT [] synonym: "malignant tumour of dermis" EXACT [] xref: NCI:C4574 xref: SNOMEDCT_US_2023_03_01:255096006 xref: UMLS_CUI:C0346811 is_a: DOID:4159 ! skin cancer [Term] id: DOID:5275 name: gallbladder leiomyosarcoma def: "A gallbladder sarcoma that is located_in the soft tissues of the gallbladder." [url:http\://en.wikipedia.org/wiki/Leiomyosarcoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/2278917] subset: NCIthesaurus synonym: "leiomyosarcoma of the gallbladder" EXACT [] xref: NCI:C5841 xref: UMLS_CUI:C1333746 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:3121 ! gallbladder cancer [Term] id: DOID:5276 name: esophagus leiomyosarcoma subset: NCIthesaurus synonym: "leiomyosarcoma of esophagus" EXACT [] synonym: "leiomyosarcoma of oesophagus" EXACT [] synonym: "oesophagus leiomyosarcoma" EXACT [] xref: NCI:C5334 xref: SNOMEDCT_US_2023_03_01:1156786006 xref: UMLS_CUI:C1333454 is_a: DOID:1114 ! esophagus sarcoma [Term] id: DOID:5278 name: obsolete pediatric leiomyosarcoma is_obsolete: true [Term] id: DOID:528 name: hydrarthrosis xref: ICD9CM:719.08 xref: SNOMEDCT_US_2023_03_01:156579009 xref: UMLS_CUI:C0158157 is_a: DOID:381 ! arthropathy [Term] id: DOID:5280 name: gastric leiomyosarcoma subset: NCIthesaurus xref: NCI:C27200 xref: SNOMEDCT_US_2023_03_01:447785000 xref: UMLS_CUI:C0744295 is_a: DOID:10534 ! stomach cancer [Term] id: DOID:5281 name: obsolete malignant mesenchymal neoplasm of the stomach synonym: "malignant mesenchymal neoplasm of stomach" EXACT [] is_obsolete: true [Term] id: DOID:5282 name: prostate leiomyosarcoma def: "A prostate sarcoma that is located_in the prostate." [url:https\://academic.oup.com/jscr/article/2024/3/rjae138/7629840] subset: NCIthesaurus synonym: "leiomyosarcoma of the prostate" EXACT [] xref: NCI:C5526 xref: UMLS_CUI:C1335511 is_a: DOID:4054 ! prostate sarcoma [Term] id: DOID:5283 name: vagina leiomyosarcoma def: "A vagina sarcoma that has_material_basis_in smooth muscle." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25909129] subset: NCIthesaurus synonym: "leiomyosarcoma of the vagina" EXACT [] xref: NCI:C6326 xref: UMLS_CUI:C1336940 is_a: DOID:1901 ! vagina sarcoma [Term] id: DOID:5284 name: retroperitoneal leiomyosarcoma subset: NCIthesaurus xref: NCI:C27904 is_a: DOID:12341 ! retroperitoneal sarcoma [Term] id: DOID:5285 name: breast leiomyosarcoma def: "A breast sarcoma that arises from smooth muscle cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/] subset: NCIthesaurus synonym: "leiomyosarcoma of the breast" EXACT [] xref: NCI:C5186 xref: UMLS_CUI:C1332631 is_a: DOID:3017 ! breast sarcoma [Term] id: DOID:5286 name: vulvar leiomyosarcoma def: "A vulvar sarcoma that has_material_basis_in smooth muscle cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26010680] subset: NCIthesaurus xref: NCI:C40318 is_a: DOID:2096 ! vulvar sarcoma [Term] id: DOID:5287 name: kidney leiomyosarcoma def: "A leiomyosarcoma and sarcoma of kidney that is located_in the kidney." [url:http\://www.sage-hindawi.com/journals/pri/2010/652398.html] subset: NCIthesaurus synonym: "leiomyosarcoma of kidney" EXACT [] xref: NCI:C6183 xref: UMLS_CUI:C1335743 is_a: DOID:4242 ! kidney sarcoma [Term] id: DOID:5288 name: larynx leiomyosarcoma def: "A leiomyosarcoma located_in the larynx." [url:http\://findarticles.com/p/articles/mi_m0BUM/is_7_84/ai_n14920168/] subset: NCIthesaurus synonym: "leiomyosarcoma of Larynx" EXACT [] xref: NCI:C6022 xref: UMLS_CUI:C1334371 is_a: DOID:1967 ! leiomyosarcoma [Term] id: DOID:5289 name: uterus leiomyosarcoma def: "A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus." [url:http\://en.wikipedia.org/wiki/Leiomyosarcoma] subset: NCIthesaurus synonym: "leiomyosarcoma of Corpus Uteri" EXACT [] xref: NCI:C6340 xref: SNOMEDCT_US_2023_03_01:447389009 xref: UMLS_CUI:C0280631 is_a: DOID:5165 ! uterine corpus sarcoma [Term] id: DOID:529 name: blepharospasm def: "A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks." [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5909 xref: ICD10CM:G24.5 xref: ICD9CM:333.81 xref: MESH:D001764 xref: NCI:C118723 xref: SNOMEDCT_US_2023_03_01:155009007 xref: UMLS_CUI:C0005747 is_a: DOID:0050836 ! focal dystonia property_value: exactMatch "MESH:D001764" xsd:string [Term] id: DOID:5290 name: obsolete uterine corpus smooth muscle neoplasm is_obsolete: true [Term] id: DOID:5291 name: obsolete adult leiomyosarcoma is_obsolete: true [Term] id: DOID:5292 name: mediastinum leiomyosarcoma def: "A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels." [url:https\://pubmed.ncbi.nlm.nih.gov/33776690/, url:https\://pubmed.ncbi.nlm.nih.gov/34446630/] subset: NCIthesaurus synonym: "leiomyosarcoma of mediastinum" EXACT [] xref: NCI:C6619 xref: UMLS_CUI:C1334660 is_a: DOID:1967 ! leiomyosarcoma [Term] id: DOID:5293 name: extrahepatic bile duct leiomyosarcoma def: "A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver." [url:http\://www.cancer.gov/dictionary/?CdrID=44498, url:http\://www.cancer.gov/dictionary/?CdrID=46027] subset: NCIthesaurus synonym: "leiomyosarcoma of the bile duct" EXACT [] xref: NCI:C5848 xref: UMLS_CUI:C1333508 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:4682 ! extrahepatic bile duct carcinoma [Term] id: DOID:5294 name: obsolete vessel leiomyosarcoma synonym: "leiomyosarcoma of Vessels" EXACT [] is_obsolete: true [Term] id: DOID:5295 name: intestinal disease alt_id: DOID:10759 alt_id: DOID:11222 alt_id: DOID:11789 alt_id: DOID:8531 alt_id: DOID:8558 alt_id: DOID:8591 def: "A gastrointestinal system disease that is located_in the intestine." [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract] subset: NCIthesaurus xref: ICD10CM:K63.9 xref: ICD9CM:569.9 xref: MESH:D007410 xref: NCI:C26801 xref: SNOMEDCT_US_2023_03_01:266483008 xref: UMLS_CUI:C0021831 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:5296 name: liver leiomyosarcoma def: "A leiomyosarcoma and sarcoma of liver that is located_in the liver." [url:http\://www.cancer.gov/dictionary/?CdrID=46027] subset: NCIthesaurus synonym: "leiomyosarcoma of the Liver" EXACT [] xref: NCI:C5756 xref: UMLS_CUI:C1333969 is_a: DOID:270 ! liver sarcoma [Term] id: DOID:5297 name: rectum leiomyosarcoma def: "A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum." [url:http\://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm] subset: NCIthesaurus synonym: "leiomyosarcoma of rectum" EXACT [] xref: NCI:C5549 xref: SNOMEDCT_US_2023_03_01:1156783003 xref: UMLS_CUI:C1335683 is_a: DOID:1995 ! rectum sarcoma [Term] id: DOID:5299 name: endometrial clear cell adenocarcinoma def: "An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24817975] subset: NCIthesaurus synonym: "Clear cell carcinoma of Endometrium" EXACT [] xref: NCI:C8028 xref: UMLS_CUI:C0279765 is_a: DOID:2870 ! endometrial adenocarcinoma [Term] id: DOID:53 name: pituitary gland disease alt_id: DOID:2445 alt_id: DOID:8713 alt_id: DOID:8714 def: "An endocrine system disease that is located_in the pituitary gland." [url:http\://en.wikipedia.org/wiki/Pituitary_disease] synonym: "pituitary disease" EXACT [] xref: ICD9CM:253.1 xref: UMLS_CUI:C0029493 is_a: DOID:28 ! endocrine system disease [Term] id: DOID:530 name: eyelid disease def: "An adnexa disease that is located_in the eyelid." [url:http\://en.wikipedia.org/wiki/Eye_disease#H00-H06_Disorders_of_eyelid.2C_lacrimal_system_and_orbit] subset: NCIthesaurus xref: ICD10CM:H02.9 xref: ICD9CM:374.9 xref: MESH:D005141 xref: NCI:C26768 xref: SNOMEDCT_US_2023_03_01:60113004 xref: UMLS_CUI:C0015423 is_a: DOID:37 ! skin disease [Term] id: DOID:5301 name: fallopian tube clear cell adenocarcinoma def: "A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm." [url:https\://www.hindawi.com/journals/criog/2015/183243/] subset: NCIthesaurus synonym: "Clear cell carcinoma of the fallopian tube" EXACT [] xref: NCI:C6280 xref: UMLS_CUI:C1333591 is_a: DOID:3706 ! fallopian tube adenocarcinoma [Term] id: DOID:5302 name: uterine ligament clear cell adenocarcinoma def: "A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26699941] subset: NCIthesaurus xref: NCI:C40139 xref: UMLS_CUI:C5557431 is_a: DOID:3700 ! uterine ligament adenocarcinoma [Term] id: DOID:5303 name: cervical clear cell adenocarcinoma def: "A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23849091] subset: NCIthesaurus synonym: "Clear cell carcinoma of the Cervix Uteri" EXACT [] xref: NCI:C6344 xref: UMLS_CUI:C1332912 is_a: DOID:3702 ! cervical adenocarcinoma [Term] id: DOID:5304 name: ovarian clear cell adenocarcinoma def: "A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25398420] subset: NCIthesaurus xref: NCI:C40078 xref: SNOMEDCT_US_2023_03_01:763131005 xref: UMLS_CUI:C1518693 is_a: DOID:3713 ! ovary adenocarcinoma [Term] id: DOID:5305 name: obsolete malignant ovarian clear cell neoplasm is_obsolete: true [Term] id: DOID:5306 name: bladder clear cell adenocarcinoma def: "A clear cell adenocarcinoma that is located_in the bladder." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183708/] subset: NCIthesaurus synonym: "bladder Mesonephric adenocarcinoma" EXACT [] synonym: "clear cell adenocarcinoma of bladder" RELATED [] xref: NCI:C6179 xref: UMLS_CUI:C1332557 is_a: DOID:3711 ! bladder adenocarcinoma [Term] id: DOID:5307 name: urethra clear cell adenocarcinoma def: "A clear cell adenocarcinoma that is located_in the urethra." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25685552] subset: NCIthesaurus synonym: "Clear cell adenocarcinoma of the urethra" EXACT [] xref: NCI:C6172 xref: UMLS_CUI:C1336886 is_a: DOID:4910 ! urethra adenocarcinoma [Term] id: DOID:5308 name: ampulla of Vater clear cell adenocarcinoma subset: NCIthesaurus xref: NCI:C27414 xref: UMLS_CUI:C1332246 is_a: DOID:3502 ! ampulla of Vater adenocarcinoma [Term] id: DOID:5309 name: epithelial-myoepithelial carcinoma subset: NCIthesaurus xref: ICDO:8562/3 xref: NCI:C4199 xref: SNOMEDCT_US_2023_03_01:189722008 xref: UMLS_CUI:C0334392 is_a: DOID:8850 ! salivary gland cancer [Term] id: DOID:5310 name: glycogen-rich clear cell breast carcinoma alt_id: DOID:5311 def: "A glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen." [url:http\://surgpathcriteria.stanford.edu/breast/glycogencabr/, url:https\://www.ncbi.nlm.nih.gov/pubmed/24400866] subset: NCIthesaurus synonym: "glycogen-rich carcinoma of breast" EXACT [] xref: NCI:C40368 xref: UMLS_CUI:C2012261 is_a: DOID:0081028 ! glycogen-rich carcinoma [Term] id: DOID:5312 name: obsolete miscellaneous mesenchymal neoplasm is_obsolete: true [Term] id: DOID:5313 name: vulvar alveolar soft part sarcoma def: "An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7060986] subset: NCIthesaurus xref: NCI:C40320 xref: UMLS_CUI:C1520069 is_a: DOID:2096 ! vulvar sarcoma [Term] id: DOID:5314 name: obsolete alveolar soft part sarcoma recurrent def: "An alveolar soft part sarcoma that recurs over time." [url:http\://www.childrenshospital.org/az/Site564/mainpageS564P0.html] synonym: "relapsed Alveolar soft Part sarcoma" EXACT [] is_obsolete: true [Term] id: DOID:5316 name: obsolete alveolar soft part sarcoma nonmetastatic def: "An alveolar soft part sarcoma that has not spread to other parts of the body." [url:http\://www.childrenshospital.org/az/Site564/mainpageS564P0.html] synonym: "Non-metastatic Alveolar soft Part sarcoma" EXACT [] is_obsolete: true [Term] id: DOID:5317 name: obsolete alveolar soft part sarcoma metastatic def: "An alveolar soft part sarcoma that has spread to other parts of the body." [url:http\://www.childrenshospital.org/az/Site564/mainpageS564P0.html] is_obsolete: true [Term] id: DOID:5323 name: obsolete fallopian tube serous tumor is_obsolete: true [Term] id: DOID:5324 name: fallopian tube germ cell cancer def: "A fallopian tube cancer that derives_from germ cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10202679] subset: NCIthesaurus synonym: "fallopian tube germ cell neoplasm" RELATED [] xref: NCI:C40130 xref: UMLS_CUI:C1517114 is_a: DOID:1964 ! fallopian tube cancer is_a: DOID:2994 ! germ cell cancer [Term] id: DOID:5325 name: Roberts syndrome alt_id: DOID:0050536 def: "A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1." [url:https\://ghr.nlm.nih.gov/condition/roberts-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/20101700] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE" EXACT [] synonym: "RBS" EXACT OMO:0003012 [] synonym: "Roberts-Sc Phocomelia Syndrome" EXACT [] synonym: "SC phocomelia syndrome" EXACT [] xref: GARD:7387 xref: MESH:C535687 xref: MIM:268300 xref: NCI:C4681 xref: ORDO:3103 xref: SNOMEDCT_US_2023_03_01:48718006 xref: UMLS_CUI:C0392475 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:5326 name: obsolete Partial recent retinal detachment with single defect synonym: "Partial recent retinal detachment with single defect (disorder)" EXACT [] synonym: "Recent retinal detachment, partial, with single defect" EXACT [] is_obsolete: true [Term] id: DOID:5327 name: retinal detachment subset: NCIthesaurus xref: ICD10CM:H33.2 xref: ICD9CM:361.9 xref: MESH:D012163 xref: NCI:C26874 xref: SNOMEDCT_US_2023_03_01:155103005 xref: UMLS_CUI:C0035305 is_a: DOID:5679 ! retinal disease [Term] id: DOID:5328 name: obsolete retinal detachment and defect synonym: "Retinal detachment with defect NOS (disorder)" EXACT [] synonym: "Retinal detachment with retinal defect" EXACT [] synonym: "Retinal detachment with retinal defect (disorder)" EXACT [] synonym: "Retinal detachment with retinal defect, unspecified" EXACT [] synonym: "Unspecified retinal detachment with retinal defect (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:533 name: thymus gland disease alt_id: DOID:11024 subset: NCIthesaurus synonym: "disease of thymus gland" EXACT [] xref: ICD10CM:E32 xref: ICD9CM:254 xref: NCI:C26962 xref: SNOMEDCT_US_2023_03_01:20673009 xref: UMLS_CUI:C0154199 is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:5330 name: dental pulp disease def: "A tooth disease located_in dental pulp." [url:https\://en.wikipedia.org/wiki/Pulp_%28tooth%29, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C34530] subset: NCIthesaurus synonym: "Dental pulp disorder" EXACT [] synonym: "disorder of pulp of tooth" EXACT [] synonym: "pulp disorder" EXACT [] xref: MESH:D003788 xref: NCI:C34530 xref: SNOMEDCT_US_2023_03_01:57203004 xref: UMLS_CUI:C0011405 is_a: DOID:1091 ! tooth disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:5331 name: testicular granulosa cell tumor subset: NCIthesaurus synonym: "Granulosa cell tumor of testis" EXACT [] synonym: "Granulosa cell tumour of testis" EXACT [] synonym: "testicular granulosa cell tumour" EXACT [] xref: NCI:C6357 xref: UMLS_CUI:C1336709 is_a: DOID:2999 ! granulosa cell tumor [Term] id: DOID:5334 name: paraphimosis subset: NCIthesaurus xref: ICD10CM:N47.2 xref: MESH:D010263 xref: NCI:C34893 xref: SNOMEDCT_US_2023_03_01:155922002 xref: UMLS_CUI:C0030483 is_a: DOID:2712 ! phimosis [Term] id: DOID:5335 name: obsolete renal neoplasm with t(6;11)(p21;q12) is_obsolete: true [Term] id: DOID:5337 name: epulis subset: NCIthesaurus synonym: "epulides" EXACT [] synonym: "Gingival polyp" EXACT [] synonym: "polyp of Gum" EXACT [] xref: MESH:D005882 xref: NCI:C3948 xref: SNOMEDCT_US_2023_03_01:71708001 xref: UMLS_CUI:C0266919 is_a: DOID:3086 ! gingival overgrowth [Term] id: DOID:5338 name: gingival hypertrophy synonym: "hypertrophy of gingivae" EXACT [] xref: MESH:D005886 xref: SNOMEDCT_US_2023_03_01:54711002 xref: UMLS_CUI:C0017567 is_a: DOID:3086 ! gingival overgrowth [Term] id: DOID:5339 name: cyclic hematopoiesis comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "cyclic agranulocytosis" EXACT [] synonym: "Cyclic neutropenia" EXACT [] synonym: "Cyclical neutropenia" EXACT [] synonym: "Neutropenia, periodic" EXACT [] xref: ICD10CM:D70.4 xref: ICD9CM:288.02 xref: MESH:C536227 xref: MIM:162800 xref: NCI:C3820 xref: SNOMEDCT_US_2023_03_01:69295006 xref: UMLS_CUI:C0221023 is_a: DOID:1227 ! neutropenia [Term] id: DOID:534 name: obsolete persistent disorder of initiating or maintaining wakefulness is_obsolete: true [Term] id: DOID:5340 name: anterograde amnesia def: "An amnestic disorder that involves the impaired or lost ability to memorize new things." [url:http\://en.wikipedia.org/wiki/Amnesia] xref: ICD10CM:R41.1 xref: MESH:D020324 xref: SNOMEDCT_US_2023_03_01:88822006 xref: UMLS_CUI:C0233795 is_a: DOID:10914 ! amnestic disorder [Term] id: DOID:5341 name: pineal region yolk sac tumor subset: NCIthesaurus synonym: "Pineal Region Yolk Sac neoplasm" EXACT [] xref: NCI:C6752 xref: UMLS_CUI:C1335420 is_a: DOID:1660 ! malignant pineal area germ cell neoplasm [Term] id: DOID:5342 name: childhood endodermal sinus tumor def: "An endodermal sinus tumor that occurs in children." [url:http\://en.wikipedia.org/wiki/Endodermal_sinus_tumor] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood endodermal sinus neoplasm" EXACT [] synonym: "childhood endodermal sinus tumour" EXACT [] synonym: "paediatric Yolk Sac tumour" EXACT [] synonym: "pediatric Yolk Sac tumor" EXACT [] xref: NCI:C27364 xref: UMLS_CUI:C1333016 is_a: DOID:1911 ! endodermal sinus tumor [Term] id: DOID:5343 name: central nervous system endodermal sinus tumor alt_id: DOID:6051 subset: NCIthesaurus synonym: "central nervous system endodermal sinus tumour" EXACT [] synonym: "childhood central nervous system endodermal sinus neoplasm" EXACT [] synonym: "paediatric central nervous system Yolk Sac tumour" EXACT [] synonym: "pediatric central nervous system Yolk Sac tumor" EXACT [] synonym: "Yolk Sac tumor of the CNS" EXACT [] synonym: "Yolk Sac tumour of the CNS" EXACT [] xref: NCI:C6209 xref: NCI:C7011 xref: SNOMEDCT_US_2023_03_01:1197280002 xref: UMLS_CUI:C1337040 xref: UMLS_CUI:C1377613 is_a: DOID:4439 ! central nervous system germ cell tumor [Term] id: DOID:5344 name: testicular yolk sac tumor subset: DO_rare_slim subset: NCIthesaurus synonym: "testicular Yolk Sac neoplasm" EXACT [] xref: GARD:348 xref: NCI:C8000 xref: UMLS_CUI:C0279708 is_a: DOID:5345 ! testicular non-seminomatous germ cell cancer [Term] id: DOID:5345 name: testicular non-seminomatous germ cell cancer subset: NCIthesaurus synonym: "malignant Non-Seminomatous germ cell tumor of testis" EXACT [] xref: NCI:C5027 xref: UMLS_CUI:C1334625 is_a: DOID:5556 ! testicular malignant germ cell cancer [Term] id: DOID:5346 name: obsolete mediastinal endodermal sinus tumor synonym: "mediastinal endodermal sinus neoplasm" EXACT [] synonym: "Yolk Sac tumor of mediastinum" EXACT [] is_obsolete: true [Term] id: DOID:5347 name: obsolete mediastinal non-seminomatous germ cell cancer synonym: "Non-Seminomatous malignant germ cell tumor of mediastinum" EXACT [] is_obsolete: true [Term] id: DOID:5348 name: adult endodermal sinus tumor def: "An endodermal sinus tumor that occurs in adults." [url:http\://en.wikipedia.org/wiki/Endodermal_sinus_tumor] subset: NCIthesaurus synonym: "adult endodermal sinus neoplasm" EXACT [] synonym: "adult Yolk Sac neoplasm" EXACT [] xref: NCI:C27241 xref: UMLS_CUI:C1332221 is_a: DOID:1911 ! endodermal sinus tumor [Term] id: DOID:5349 name: central nervous system adult germ cell tumor subset: NCIthesaurus synonym: "central nervous system adult germ cell tumour" EXACT [] synonym: "germ cell tumor of the adult CNS" EXACT [] synonym: "germ cell tumour of the adult CNS" EXACT [] xref: NCI:C6285 xref: UMLS_CUI:C0280796 is_a: DOID:4439 ! central nervous system germ cell tumor [Term] id: DOID:535 name: sleep disorder alt_id: DOID:9028 def: "A disease of mental health that involves disruption of sleep patterns." [url:http\://en.wikipedia.org/wiki/Sleep_disorder] subset: DO_FlyBase_slim subset: DO_RAD_slim synonym: "Non-organic sleep disorder" EXACT [] xref: ICD9CM:307.4 xref: UMLS_CUI:C0154564 is_a: DOID:150 ! disease of mental health [Term] id: DOID:5350 name: ovarian endodermal sinus tumor def: "An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo." [url:https\://en.wikipedia.org/wiki/Endodermal_sinus_tumor] subset: NCIthesaurus synonym: "Endodermal sinus tumor of ovary" EXACT [] synonym: "Endodermal sinus tumour of ovary" EXACT [] synonym: "ovarian endodermal sinus tumour" EXACT [] synonym: "Ovarian Yolk Sac tumor" EXACT [] synonym: "Ovarian Yolk Sac tumour" EXACT [] xref: NCI:C8107 xref: SNOMEDCT_US_2023_03_01:254876005 xref: UMLS_CUI:C0346188 is_a: DOID:5351 ! ovarian primitive germ cell tumor [Term] id: DOID:5351 name: ovarian primitive germ cell tumor def: "A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24576031] subset: NCIthesaurus xref: NCI:C39986 xref: UMLS_CUI:C1518727 is_a: DOID:2155 ! malignant ovarian germ cell neoplasm [Term] id: DOID:5353 name: colonic disease alt_id: DOID:10758 def: "A intestinal disease located in the colon." [url:https\://www.nature.com/subjects/colonic-diseases] subset: DO_RAD_slim synonym: "colon disorder" EXACT [] xref: MESH:D003108 xref: SNOMEDCT_US_2023_03_01:128524007 xref: UMLS_CUI:C0009373 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:5354 name: obsolete lung PAP-AD is_obsolete: true [Term] id: DOID:5355 name: obsolete mucinous bronchioloalveolar lung carcinoma synonym: "mucinous Bronchoalveolar lung carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:5358 name: obsolete non-mucinous bronchioloalveolar lung carcinoma synonym: "Non-mucinous Bronchoalveolar lung carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:5359 name: obsolete pure BAC is_obsolete: true [Term] id: DOID:536 name: obsolete persistent disorder of initiating or maintaining sleep is_obsolete: true [Term] id: DOID:5360 name: obsolete AD-BAC is_obsolete: true [Term] id: DOID:5361 name: obsolete mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma synonym: "mixed mucinous and Non-mucinous Bronchoalveolar lung carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:5362 name: focal epithelial hyperplasia def: "A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity." [url:https\://en.wikipedia.org/wiki/Heck%27s_disease] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Heck disease" EXACT [] synonym: "Heck's disease" EXACT [] synonym: "Multifocal epithelial hyperplasia" EXACT [] xref: MESH:D017573 xref: MIM:229045 xref: NCI:C97083 xref: SNOMEDCT_US_2023_03_01:36949004 xref: UMLS_CUI:C0206067 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:5363 name: myxoid liposarcoma def: "A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8913727] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim synonym: "Myxoid/round cell liposarcoma" EXACT [] xref: GARD:7157 xref: ICDO:8852/3 xref: MESH:D018208 xref: MIM:613488 xref: ORDO:99967 xref: SNOMEDCT_US_2023_03_01:404069006 xref: UMLS_CUI:C0206634 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:5364 name: pulmonary coin lesion synonym: "Coin lesion lung" EXACT [] synonym: "Coin lesion of lung" EXACT [] xref: ICD10CM:R91.1 xref: MESH:D003074 xref: SNOMEDCT_US_2023_03_01:308689002 xref: UMLS_CUI:C0009250 is_a: DOID:3683 ! lung benign neoplasm [Term] id: DOID:5368 name: Wolffian duct adenocarcinoma def: "A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts." [url:https\://rarediseases.info.nih.gov/diseases/8680/wolffian-tumor, url:https\://www.ncbi.nlm.nih.gov/articles/PMC4230074/] subset: NCIthesaurus synonym: "cervical mesonephric adenocarcinoma" EXACT [] xref: NCI:C40254 xref: UMLS_CUI:C1516419 is_a: DOID:3702 ! cervical adenocarcinoma [Term] id: DOID:5369 name: obsolete ovine progressive interstitial pneumonia def: "A viral infectious disease that results_in inflammation located_in lungs, has_material_basis_in Ovine progressive pneumonia virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated milk or colostrum. The infection has_symptom coughing, has_symptom bronchial exudate, has_symptom depression, and has_symptom fever." [url:http\://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121505.htm] synonym: "progressive interstitial pneumonia of sheep" EXACT [] synonym: "progressive pneumonia of sheep (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:5370 name: breast hemangiopericytoma def: "A hemangiopericytoma that is manifested in the breast." [url:https\://pubmed.ncbi.nlm.nih.gov/25688313/] subset: NCIthesaurus synonym: "hemangiopericytoma of the breast" EXACT [] xref: NCI:C40396 xref: UMLS_CUI:C1511313 is_a: DOID:3017 ! breast sarcoma [Term] id: DOID:5373 name: retroperitoneal hemangiopericytoma subset: NCIthesaurus xref: NCI:C5386 xref: UMLS_CUI:C1335777 is_a: DOID:264 ! hemangiopericytoma [Term] id: DOID:5374 name: pilomatrixoma alt_id: DOID:5377 comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "benign pilomatricoma" EXACT [] synonym: "Pilomatricoma" EXACT [] xref: GARD:9452 xref: MESH:D018296 xref: MIM:132600 xref: NCI:C7368 xref: SNOMEDCT_US_2023_03_01:274901004 xref: UMLS_CUI:C0206711 is_a: DOID:5375 ! hair follicle neoplasm property_value: exactMatch "MESH:D018296" xsd:string [Term] id: DOID:5375 name: hair follicle neoplasm subset: NCIthesaurus synonym: "Hair Matrix neoplasm" EXACT [] synonym: "Hair matrix tumour" EXACT [] xref: NCI:C7367 xref: SNOMEDCT_US_2023_03_01:44155009 xref: UMLS_CUI:C0859920 is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:5376 name: skin pilomatrix carcinoma subset: NCIthesaurus synonym: "malignant Pilomatricoma" EXACT [] synonym: "Pilomatricoma, malignant" EXACT [] synonym: "pilomatrix carcinoma of skin" RELATED [] xref: NCI:C4114 xref: SNOMEDCT_US_2023_03_01:307610008 xref: UMLS_CUI:C0585475 is_a: DOID:3451 ! skin carcinoma [Term] id: DOID:5378 name: hemoglobin D disease subset: NCIthesaurus synonym: "Hb-D disease" EXACT [] xref: ICD10CM:D58.2 xref: NCI:C35344 xref: SNOMEDCT_US_2023_03_01:66729008 xref: UMLS_CUI:C0272080 is_a: DOID:2860 ! hemoglobinopathy [Term] id: DOID:5379 name: hemoglobin E disease subset: DO_rare_slim subset: NCIthesaurus synonym: "Hb-E disease" EXACT [] xref: GARD:2641 xref: ICD10CM:D58.2 xref: NCI:C35287 xref: SNOMEDCT_US_2023_03_01:25065001 xref: UMLS_CUI:C0238159 is_a: DOID:2860 ! hemoglobinopathy [Term] id: DOID:538 name: internuclear ophthalmoplegia xref: ICD10CM:H51.2 xref: ICD9CM:378.86 xref: MESH:D015835 xref: SNOMEDCT_US_2023_03_01:49823009 xref: UMLS_CUI:C0152134 is_a: DOID:539 ! ophthalmoplegia is_a: DOID:540 ! strabismus [Term] id: DOID:5380 name: obsolete lupus vulgaris subset: gram-positive_bacterial_infectious_disease synonym: "Lupus - tuberculous" EXACT [] synonym: "Lupus exedens" EXACT [] synonym: "lupus tuberculosis" EXACT [] synonym: "Lupus vulgaris" EXACT [] synonym: "Lupus vulgaris (disorder)" EXACT [] synonym: "Tuberculosis - lupus NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:5381 name: bile duct adenoma def: "A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma." [url:https\://www.sciencedirect.com/topics/medicine-and-dentistry/bile-duct-adenoma] subset: NCIthesaurus synonym: "Cholangioadenoma" EXACT [] xref: ICDO:8160/0 xref: MESH:D002759 xref: NCI:C2942 xref: SNOMEDCT_US_2023_03_01:39471001 xref: UMLS_CUI:C0008309 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:4138 ! bile duct disease is_a: DOID:657 ! adenoma [Term] id: DOID:5382 name: Bartholin's gland adenoma def: "A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue." [url:https\://en.wikipedia.org/wiki/Adenoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/18152506] subset: NCIthesaurus synonym: "Bartholin gland adenoma" EXACT [] xref: NCI:C40299 xref: UMLS_CUI:C1511048 is_a: DOID:2068 ! Bartholin's gland benign neoplasm is_a: DOID:60002 ! Bartholin's gland disease is_a: DOID:657 ! adenoma [Term] id: DOID:5384 name: bile duct cystadenoma def: "A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106371/] subset: NCIthesaurus synonym: "Cystadenoma of the bile duct" EXACT [] xref: ICDO:8161/0 xref: NCI:C4129 xref: SNOMEDCT_US_2023_03_01:83025009 xref: UMLS_CUI:C0334285 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:4138 ! bile duct disease [Term] id: DOID:5385 name: mixed cell adenoma def: "An adenoma that has_material_basis_in more than one cell type." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25002356] subset: NCIthesaurus xref: ICDO:8323/0 xref: NCI:C4157 xref: SNOMEDCT_US_2023_03_01:89773001 xref: UMLS_CUI:C0334323 is_a: DOID:657 ! adenoma [Term] id: DOID:5386 name: lung adenoma def: "A lung benign neoplasm that derives_from glandular epithelial cells." [url:https\://www.lungcancer.org/find_information/publications/163-lung_cancer_101/268-types_and_staging] subset: NCIthesaurus synonym: "adenoma of lung" EXACT [] synonym: "pulmonary adenoma" EXACT [] xref: NCI:C4455 xref: SNOMEDCT_US_2023_03_01:254642004 xref: UMLS_CUI:C0345964 is_a: DOID:3683 ! lung benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:5387 name: middle ear adenoma def: "A sensory organ benign neoplasm that is located_in the middle ear." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25741045] subset: NCIthesaurus synonym: "adenoma of middle ear" RELATED [] synonym: "adenoma of the middle ear" EXACT [] xref: NCI:C6834 xref: SNOMEDCT_US_2023_03_01:734078009 xref: UMLS_CUI:C1334759 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:0080619 ! auditory system benign neoplasm is_a: DOID:5100 ! middle ear disease [Term] id: DOID:5389 name: oxyphilic adenoma subset: NCIthesaurus synonym: "Follicular adenoma, oxyphilic cell" EXACT [] synonym: "Oncocytoma" EXACT [] xref: ICDO:8290/0 xref: MESH:D018249 xref: NCI:C3759 xref: SNOMEDCT_US_2023_03_01:89439007 xref: UMLS_CUI:C1510502 is_a: DOID:0060089 ! endocrine organ benign neoplasm [Term] id: DOID:539 name: ophthalmoplegia alt_id: DOID:10868 subset: NCIthesaurus synonym: "extraocular muscle paralysis" EXACT [] synonym: "eye movement paralysis" EXACT [] synonym: "oculomotor paralysis" EXACT [] synonym: "Total ophthalmoplegia" EXACT [] xref: ICD9CM:378.56 xref: MESH:D009886 xref: NCI:C79697 xref: SNOMEDCT_US_2023_03_01:16110005 xref: SNOMEDCT_US_2023_03_01:78097002 xref: UMLS_CUI:C0029089 xref: UMLS_CUI:C0155338 is_a: DOID:1279 ! ocular motility disease [Term] id: DOID:5390 name: clear cell adenoma def: "An adenoma that is composed_of cells with a clear cytoplasm located_in ovary." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4151] subset: NCIthesaurus xref: ICDO:8310/0 xref: NCI:C4151 xref: SNOMEDCT_US_2023_03_01:1752006 xref: UMLS_CUI:C0334315 is_a: DOID:657 ! adenoma [Term] id: DOID:5391 name: bronchus adenoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "adenoma of the bronchus" RELATED [] synonym: "Bronchial adenoma" EXACT [] xref: NCI:C3494 xref: SNOMEDCT_US_2023_03_01:24482001 xref: UMLS_CUI:C0149845 is_a: DOID:3906 ! bronchial benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:5392 name: acidophil adenoma subset: NCIthesaurus synonym: "Eosinophil adenoma" EXACT [] xref: ICDO:8280/0 xref: MESH:D000239 xref: NCI:C6780 xref: SNOMEDCT_US_2023_03_01:21109002 xref: UMLS_CUI:C0001433 is_a: DOID:3829 ! pituitary adenoma is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:5393 name: brain angioma subset: NCIthesaurus xref: NCI:C7739 xref: UMLS_CUI:C0238814 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:255 ! hemangioma is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:5394 name: prolactinoma comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "familial prolactinoma" EXACT [] synonym: "PITUITARY ADENOMA, PROLACTIN-SECRETING" EXACT [] synonym: "Prolactinoma of Pituitary gland" EXACT [] xref: GARD:4508 xref: MESH:D015175 xref: NCI:C3342 xref: SNOMEDCT_US_2023_03_01:367098005 xref: UMLS_CUI:C0033375 is_a: DOID:5395 ! functioning pituitary adenoma [Term] id: DOID:5395 name: functioning pituitary adenoma subset: NCIthesaurus synonym: "Secretory adenoma of the Pituitary gland" EXACT [] xref: NCI:C8388 xref: UMLS_CUI:C0854486 is_a: DOID:3829 ! pituitary adenoma [Term] id: DOID:5396 name: prolactin producing pituitary tumor alt_id: DOID:6272 def: "A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C7910] subset: NCIthesaurus synonym: "malignant prolactin producing neoplasm of pituitary gland" EXACT [] synonym: "malignant Prolactinoma" EXACT [] synonym: "prolactin producing pituitary tumour" EXACT [] synonym: "Prolactin Secreting tumor of Pituitary" EXACT [] synonym: "Prolactin Secreting tumour of Pituitary" EXACT [] synonym: "Prolactin-Producing Pituitary Gland Carcinoma" EXACT [] xref: NCI:C5962 xref: UMLS_CUI:C1334614 is_a: DOID:4916 ! pituitary carcinoma [Term] id: DOID:5397 name: obsolete ductal adenoma is_obsolete: true [Term] id: DOID:5398 name: lipoadenoma def: "An adenoma that is composed_of epithelial cells admixed with adipose tissue cells." [url:http\://en.wiktionary.org/wiki/lipoadenoma, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4159] subset: NCIthesaurus xref: ICDO:8324/0 xref: NCI:C4159 xref: SNOMEDCT_US_2023_03_01:22024005 xref: UMLS_CUI:C0334325 is_a: DOID:0060123 ! connective tissue benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:5399 name: obsolete ovine pulmonary adenomatosis alt_id: DOID:3802 def: "A viral infectious disease that results_in bronchioloalveolar carcinoma in ovine, located_in lung, has_material_basis_in Jaagsiekte sheep retrovirus, characterized by proliferation of the pulmonary alveolar epithelium and occlusion of the alveoli and terminal bronchioles, presenting as a collection of benign growths of grandular origin." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/ovine_pulmonary_adenomatosis.pdf] synonym: "Jaagziekte (disorder)" EXACT [] synonym: "ovine pulmonary adenomatosis" EXACT [] synonym: "pulmonary adenomatosis" EXACT [] synonym: "pulmonary adenomatosis (morphologic abnormality)" EXACT [] synonym: "Tumor Virus Infections" RELATED [] is_obsolete: true [Term] id: DOID:540 name: strabismus def: "A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object." [url:https\://en.wikipedia.org/wiki/Strabismus] xref: ICD10CM:H50.8 xref: ICD9CM:378.7 xref: SNOMEDCT_US_2023_03_01:194125000 xref: UMLS_CUI:C0029831 is_a: DOID:1279 ! ocular motility disease is_a: DOID:9834 ! hyperopia property_value: exactMatch "MESH:D013285" xsd:string [Term] id: DOID:5400 name: obsolete trabecular adenoma synonym: "Trabecular adenoma" EXACT [] synonym: "Trabecular adenoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:5401 name: water-clear cell adenoma def: "An adenoma that derives_from epithelial cells which have clear cytoplasm." [url:https\://www.pathologyoutlines.com/topic/parathyroidwaterclearadenoma.html] subset: NCIthesaurus xref: ICDO:8322/0 xref: NCI:C4155 xref: SNOMEDCT_US_2023_03_01:26638004 xref: UMLS_CUI:C0334321 is_a: DOID:657 ! adenoma [Term] id: DOID:5402 name: vaginal adenoma def: "A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin." [url:https\://en.wikipedia.org/wiki/Adenoma] subset: NCIthesaurus xref: NCI:C40256 xref: UMLS_CUI:C1519913 is_a: DOID:0060114 ! vaginal benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:5403 name: microcystic adenoma def: "A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells." [url:http\://surgpathcriteria.stanford.edu/pancreas/serous_microcystic_adenoma/, url:https\://www.ncbi.nlm.nih.gov/pubmed/15559952] subset: NCIthesaurus xref: ICDO:8202/0 xref: MESH:D000236 xref: NCI:C3685 xref: SNOMEDCT_US_2023_03_01:189580001 xref: UMLS_CUI:C0205648 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:3918 ! pancreatic cystadenoma [Term] id: DOID:5404 name: obsolete atypical adenoma synonym: "Atypical adenoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:5408 name: Paget's disease of bone def: "A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs." [url:http\://en.wikipedia.org/wiki/Paget%27s_disease_of_bone, url:http\://orthoinfo.aaos.org/topic.cfm?topic=A00076, url:http\://www.mayoclinic.com/health/pagets-disease-of-bone/DS00485, url:http\://www.nlm.nih.gov/medlineplus/pagetsdiseaseofbone.html, url:https\://pubmed.ncbi.nlm.nih.gov/37180975/] comment: Xref MGI.\nMESH:C538098 added from NeuroDevNet [WAK]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Familial Paget's disease of bone" RELATED [] synonym: "osseous Paget's disease" EXACT [] synonym: "osteitis deformans" EXACT [] synonym: "Paget disease of bone" EXACT [] synonym: "Paget's bone disease" EXACT [] xref: EFO:0004261 xref: GARD:8615 xref: ICD10CM:M88 xref: MESH:D010001 xref: MIM:PS167250 xref: NCI:C3292 xref: ORDO:280110 xref: SNOMEDCT_US_2023_03_01:2089002 xref: UMLS_CUI:C0029401 is_a: DOID:205 ! hyperostosis [Term] id: DOID:5409 name: lung small cell carcinoma alt_id: DOID:0050875 def: "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung." [url:http\://en.wikipedia.org/wiki/Small-cell_carcinoma] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: NCIthesaurus xref: KEGG:05222 xref: MESH:D055752 xref: MIM:182280 xref: NCI:C4917 xref: SNOMEDCT_US_2023_03_01:254632001 xref: UMLS_CUI:C0149925 is_a: DOID:3905 ! lung carcinoma [Term] id: DOID:541 name: obsolete convergence insufficiency or palsy is_obsolete: true [Term] id: DOID:5410 name: pulmonary neuroendocrine tumor subset: NCIthesaurus xref: NCI:C5670 xref: SNOMEDCT_US_2023_03_01:707594002 xref: UMLS_CUI:C1334452 is_a: DOID:1324 ! lung cancer [Term] id: DOID:5411 name: lung oat cell carcinoma subset: NCIthesaurus synonym: "oat cell carcinoma" EXACT [] xref: MESH:D018288 xref: NCI:C3915 xref: SNOMEDCT_US_2023_03_01:11010461000119101 xref: UMLS_CUI:C0262584 is_a: DOID:5409 ! lung small cell carcinoma [Term] id: DOID:5414 name: lung occult small cell carcinoma subset: NCIthesaurus synonym: "occult small cell carcinoma of lung" RELATED [] synonym: "Occult small cell carcinoma of the lung" EXACT [] xref: NCI:C6683 xref: UMLS_CUI:C1335099 is_a: DOID:5409 ! lung small cell carcinoma [Term] id: DOID:5416 name: obsolete recurrent small cell lung cancer synonym: "relapsed small cell carcinoma of the lung" EXACT [] is_obsolete: true [Term] id: DOID:5418 name: schizoaffective disorder def: "A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality." [url:http\://en.wikipedia.org/wiki/Schizoaffective_disorder, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000930.htm] subset: NCIthesaurus xref: ICD10CM:F25 xref: ICD9CM:295.7 xref: MESH:D011618 xref: NCI:C94378 xref: SNOMEDCT_US_2023_03_01:231490005 xref: UMLS_CUI:C0036337 is_a: DOID:2468 ! psychotic disorder [Term] id: DOID:5419 name: schizophrenia alt_id: DOID:14734 def: "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness." [url:http\://en.wikipedia.org/wiki/Schizophrenia] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "schizophrenia-1" EXACT [] xref: ICD10CM:F20 xref: ICD9CM:295 xref: MESH:D012559 xref: MIM:181500 xref: NCI:C3362 xref: SNOMEDCT_US_2023_03_01:58214004 xref: UMLS_CUI:C0036341 is_a: DOID:2468 ! psychotic disorder [Term] id: DOID:5421 name: lung combined type small cell carcinoma def: "A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells." [url:http\://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma] subset: NCIthesaurus synonym: "Combined small cell carcinoma of the lung" EXACT [] synonym: "combined type small cell carcinoma of lung" RELATED [] xref: NCI:C9137 xref: UMLS_CUI:C1333125 is_a: DOID:5409 ! lung small cell carcinoma [Term] id: DOID:5422 name: obsolete combined carcinoma of lung synonym: "Combined carcinoma of the lung" EXACT [] is_obsolete: true [Term] id: DOID:5423 name: obsolete central nervous system hemangioblastoma synonym: "Hemangioblastoma of the CNS" EXACT [] is_obsolete: true [Term] id: DOID:5425 name: ovarian hyperstimulation syndrome def: "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3205536/] comment: OMIM mapping confirmed by DO. [SN]. synonym: "secondary Meig's syndrome" EXACT [] xref: MESH:D016471 xref: MIM:608115 xref: SNOMEDCT_US_2023_03_01:129635004 xref: UMLS_CUI:C0085083 is_a: DOID:1100 ! ovarian disease [Term] id: DOID:5426 name: primary ovarian insufficiency def: "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40." [url:http\://en.wikipedia.org/wiki/Premature_ovarian_failure, url:https\://pubmed.ncbi.nlm.nih.gov/27861765/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477642/] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "hypergonadotropic hypogonadism" EXACT [] synonym: "premature ovarian failure" EXACT [] synonym: "premature ovarian insufficiency" EXACT [] xref: ICD10CM:E28.3 xref: MESH:D016649 xref: MIM:PS311360 xref: NCI:C113352 xref: ORDO:619 xref: SNOMEDCT_US_2023_03_01:237788002 xref: UMLS_CUI:C0085215 is_a: DOID:1100 ! ovarian disease [Term] id: DOID:5427 name: urinary bladder villous adenoma subset: NCIthesaurus synonym: "villous adenoma of urinary bladder" EXACT [] xref: NCI:C7414 xref: UMLS_CUI:C1336893 is_a: DOID:0050623 ! bladder benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:5429 name: bladder flat intraepithelial lesion subset: NCIthesaurus synonym: "Flat Intraepithelial Lesion of the urinary bladder" EXACT [] xref: NCI:C37266 xref: UMLS_CUI:C1332559 is_a: DOID:0050623 ! bladder benign neoplasm [Term] id: DOID:543 name: dystonia alt_id: DOID:544 def: "A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements." [url:https\://rarediseases.org/rare-diseases/dystonia/, url:https\://www.mayoclinic.org/diseases-conditions/dystonia/symptoms-causes/syc-20350480] subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "dystonic disease" EXACT [] xref: ICD10CM:G24 xref: MESH:D004421 xref: MESH:D020821 xref: MIM:PS128100 xref: NCI:C34563 xref: SNOMEDCT_US_2023_03_01:15802004 xref: SNOMEDCT_US_2023_03_01:250068003 xref: UMLS_CUI:C0013421 xref: UMLS_CUI:C0393593 is_a: DOID:480 ! movement disease property_value: exactMatch "MESH:D004421" xsd:string [Term] id: DOID:5430 name: obsolete intraurothelial neoplasia is_obsolete: true [Term] id: DOID:5432 name: bladder papillary transitional cell neoplasm subset: NCIthesaurus synonym: "urinary bladder Papillary Urothelial neoplasm" EXACT [] xref: NCI:C39857 xref: UMLS_CUI:C1511197 is_a: DOID:5433 ! urinary tract papillary transitional cell benign neoplasm [Term] id: DOID:5433 name: urinary tract papillary transitional cell benign neoplasm alt_id: DOID:6120 subset: NCIthesaurus synonym: "Inverted papilloma of urinary tract" EXACT [] synonym: "Papillary transitional cell neoplasm of the urinary tract" EXACT [] synonym: "urinary tract inverted papilloma" EXACT [] xref: NCI:C27883 xref: NCI:C6192 xref: SNOMEDCT_US_2023_03_01:733845009 xref: UMLS_CUI:C1334282 xref: UMLS_CUI:C1335329 is_a: DOID:2615 ! papilloma is_a: DOID:731 ! urinary system benign neoplasm [Term] id: DOID:5434 name: scrapie subset: DO_infectious_disease_slim xref: MESH:D012608 xref: SNOMEDCT_US_2023_03_01:35103004 xref: UMLS_CUI:C0036457 is_a: DOID:649 ! prion disease [Term] id: DOID:5435 name: variant Creutzfeldt-Jakob disease subset: DO_infectious_disease_slim synonym: "bovine spongiform encephalopathy" EXACT [] xref: MESH:D016643 xref: SNOMEDCT_US_2023_03_01:52869003 xref: UMLS_CUI:C0085209 is_a: DOID:649 ! prion disease [Term] id: DOID:5437 name: intrahepatic bile duct adenoma def: "A bile duct adenoma located_in an intrahepatic bile duct." [url:https\://pubmed.ncbi.nlm.nih.gov/26191317/, url:https\://pubmed.ncbi.nlm.nih.gov/31149539/, url:https\://pubmed.ncbi.nlm.nih.gov/31798791/] subset: NCIthesaurus synonym: "adenoma of intrahepatic bile duct" RELATED [] synonym: "adenoma of the Intrahepatic bile duct" EXACT [] xref: NCI:C7126 xref: UMLS_CUI:C1331535 is_a: DOID:5381 ! bile duct adenoma [Term] id: DOID:5438 name: extrahepatic bile duct adenoma def: "A bile duct adenoma that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium." [url:http\://www.joplink.net/prev/200803/08.html] subset: NCIthesaurus synonym: "adenoma of extrahepatic bile duct" RELATED [] synonym: "adenoma of the extrahepatic bile duct" EXACT [] xref: NCI:C5857 xref: SNOMEDCT_US_2023_03_01:1196880004 xref: UMLS_CUI:C1331534 is_a: DOID:5381 ! bile duct adenoma [Term] id: DOID:5439 name: papillary hidradenoma subset: NCIthesaurus xref: ICDO:8405/0 xref: MESH:D000074009 xref: NCI:C4171 xref: SNOMEDCT_US_2023_03_01:89791006 xref: UMLS_CUI:C0334348 is_a: DOID:3896 ! hidradenoma [Term] id: DOID:5442 name: eccrine acrospiroma subset: NCIthesaurus synonym: "Eccrine hidradenoma" EXACT [] synonym: "Eccrine hidradenoma of skin" EXACT [] synonym: "Poroma" EXACT [] xref: MESH:D018250 xref: NCI:C7568 xref: SNOMEDCT_US_2023_03_01:254719003 xref: UMLS_CUI:C0206671 is_a: DOID:173 ! eccrine sweat gland neoplasm [Term] id: DOID:5443 name: clear cell hidradenoma subset: NCIthesaurus synonym: "Clear cell myoepithelioma" EXACT [] xref: NCI:C7567 xref: SNOMEDCT_US_2023_03_01:254719003 xref: UMLS_CUI:C1370701 is_a: DOID:3896 ! hidradenoma [Term] id: DOID:5444 name: spiradenoma alt_id: DOID:1617 subset: NCIthesaurus synonym: "benign eccrine spiradenoma" EXACT [] synonym: "Eccrine spiradenoma" EXACT [] synonym: "Eccrine spiradenoma of skin" EXACT [] xref: ICDO:8403/0 xref: NCI:C4170 xref: SNOMEDCT_US_2023_03_01:403938001 xref: UMLS_CUI:C0334347 is_a: DOID:5876 ! apocrine sweat gland neoplasm [Term] id: DOID:5445 name: syringocystadenoma papilliferum subset: DO_rare_slim subset: NCIthesaurus synonym: "papillary syringadenoma" EXACT [] xref: GARD:5100 xref: ICDO:8406/0 xref: MESH:D000074009 xref: NCI:C4172 xref: SNOMEDCT_US_2023_03_01:8934006 xref: UMLS_CUI:C0406803 is_a: DOID:5876 ! apocrine sweat gland neoplasm [Term] id: DOID:5446 name: eccrine papillary adenoma def: "A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time." [url:http\://pubs.sciepub.com/ajmcr/4/9/3/, url:https\://www.ncbi.nlm.nih.gov/pubmed/29582790] subset: DO_rare_slim subset: NCIthesaurus synonym: "Eccrine papillary adenoma of skin" EXACT [] synonym: "papillary eccrine adenoma" EXACT [] xref: GARD:10463 xref: ICDO:8408/0 xref: NCI:C4173 xref: SNOMEDCT_US_2023_03_01:253021007 xref: UMLS_CUI:C0334350 is_a: DOID:173 ! eccrine sweat gland neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:5453 name: pulmonary venoocclusive disease def: "A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension." [url:https\://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease/, url:https\://pubmed.ncbi.nlm.nih.gov/27009171/, url:https\://pubmed.ncbi.nlm.nih.gov/28118962/, url:https\://pubmed.ncbi.nlm.nih.gov/32252933/] comment: OMIM has split this term into two subtypes. subset: DO_rare_slim subset: NCIthesaurus synonym: "pulmonary veno-occlusive disease" EXACT [] xref: GARD:10153 xref: MESH:D011668 xref: MIM:PS265450 xref: NCI:C85039 xref: ORDO:31837 xref: SNOMEDCT_US_2023_03_01:89420002 xref: UMLS_CUI:C0034091 is_a: DOID:6432 ! pulmonary hypertension [Term] id: DOID:5455 name: obsolete pulmonary vascular disorder is_obsolete: true [Term] id: DOID:5456 name: obsolete spinal vascular disorder is_obsolete: true [Term] id: DOID:5457 name: laryngeal neuroendocrine tumor subset: NCIthesaurus synonym: "laryngeal neuroendocrine tumour" EXACT [] synonym: "neuroendocrine tumor of Larynx" EXACT [] synonym: "neuroendocrine tumour of Larynx" EXACT [] xref: NCI:C6023 xref: SNOMEDCT_US_2023_03_01:707625001 xref: UMLS_CUI:C1334374 is_a: DOID:2598 ! laryngeal benign neoplasm [Term] id: DOID:5460 name: obsolete contagious pleuropneumonia def: "A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides)." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleuropneumonia] subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:5461 name: obsolete primary Mycoplasma infectious disease subset: gram-negative_bacterial_infectious_disease synonym: "disease caused by Mycoplasma [Ambiguous]" EXACT [] synonym: "disease caused by Mycoplasma, NOS" EXACT [] synonym: "Eaton's agent infection (disorder)" EXACT [] synonym: "Mycoplasma infection (disorder)" EXACT [] synonym: "Mycoplasma infection with Eaton's agent" EXACT [] synonym: "Mycoplasma infection, unspecified (disorder)" EXACT [] synonym: "Mycoplasmosis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:5462 name: obsolete African swine fever def: "A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia." [url:http\://en.wikipedia.org/wiki/African_swine_fever, url:http\://www.oie.int/eng/maladies/fiches/a_A120.htm] subset: tick-borne_infectious_disease synonym: "African swine fever" EXACT [] synonym: "African swine fever (disorder)" EXACT [] synonym: "swine hemorrhagic fever" RELATED [] is_obsolete: true [Term] id: DOID:5463 name: cochlear disease xref: MESH:D015834 xref: UMLS_CUI:C0009197 is_a: DOID:2952 ! inner ear disease [Term] id: DOID:5465 name: conjunctival intraepithelial neoplasm def: "A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772848/, url:https\://www.ncbi.nlm.nih.gov/pubmed/27584160] subset: NCIthesaurus synonym: "Intraepithelial Neoplasia of Conjunctiva" EXACT [] xref: NCI:C6120 xref: SNOMEDCT_US_2023_03_01:418134006 xref: UMLS_CUI:C1333148 is_a: DOID:0060071 ! pre-malignant neoplasm is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:5467 name: conjunctival cancer alt_id: DOID:1750 subset: NCIthesaurus synonym: "Conjunctival tumor" EXACT [] synonym: "malignant Conjunctival tumor" EXACT [] synonym: "malignant neoplasm of conjunctiva" EXACT [] synonym: "malignant tumor of conjunctiva" EXACT [] synonym: "neoplasm of conjunctiva" EXACT [] xref: ICD10CM:C69.0 xref: ICD9CM:190.3 xref: MESH:D003230 xref: NCI:C2961 xref: NCI:C3564 xref: SNOMEDCT_US_2023_03_01:126996004 xref: SNOMEDCT_US_2023_03_01:93764002 xref: UMLS_CUI:C0009761 xref: UMLS_CUI:C0153628 is_a: DOID:2174 ! ocular cancer is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:5468 name: biliary papillomatosis def: "A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21988050] subset: NCIthesaurus synonym: "bile duct papillomatosis" EXACT [] xref: NCI:C65198 xref: SNOMEDCT_US_2023_03_01:128663007 xref: UMLS_CUI:C1266038 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:2615 ! papilloma [Term] id: DOID:5469 name: biliary tract intraductal papillary mucinous neoplasm subset: NCIthesaurus xref: NCI:C37215 is_a: DOID:0050625 ! biliary tract benign neoplasm [Term] id: DOID:5472 name: obsolete tumor of the thecoma fibroma group is_obsolete: true [Term] id: DOID:5474 name: ovarian serous adenofibroma def: "An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26881611] subset: NCIthesaurus xref: NCI:C40031 xref: UMLS_CUI:C1518729 is_a: DOID:0060112 ! ovarian benign neoplasm [Term] id: DOID:5475 name: uterine corpus adenofibroma def: "An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands." [url:https\://jcp.bmj.com/content/63/4/377.1.short] subset: NCIthesaurus synonym: "adenofibroma of Corpus Uteri" EXACT [] synonym: "adenofibroma of uterine corpus" RELATED [] xref: NCI:C6337 xref: UMLS_CUI:C1336901 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:2683 ! adenofibroma [Term] id: DOID:5476 name: cervical adenofibroma def: "A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12410376] subset: NCIthesaurus xref: NCI:C40230 xref: UMLS_CUI:C1516402 is_a: DOID:0060110 ! cervical benign neoplasm [Term] id: DOID:5477 name: clear cell adenofibroma def: "An adenofibroma that is characterized by the presence of cells with clear cytoplasm." [url:http\://www.jcancer.org/v02p0094.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/24721826] subset: NCIthesaurus xref: ICDO:8313/0 xref: MESH:D062625 xref: NCI:C8985 xref: SNOMEDCT_US_2023_03_01:2962009 xref: UMLS_CUI:C0334317 is_a: DOID:2683 ! adenofibroma [Term] id: DOID:5478 name: fallopian tube adenofibroma def: "A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4246679/] subset: NCIthesaurus xref: NCI:C40113 xref: UMLS_CUI:C1517109 is_a: DOID:0060111 ! fallopian tube benign neoplasm is_a: DOID:2683 ! adenofibroma [Term] id: DOID:5479 name: papillary adenofibroma def: "An adenofibroma that is characterized by finger-like projections on histology." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1595599] subset: NCIthesaurus xref: NCI:C8986 xref: SNOMEDCT_US_2023_03_01:2962009 xref: UMLS_CUI:C1377850 is_a: DOID:2683 ! adenofibroma [Term] id: DOID:548 name: obsolete malignant hypertensive heart disease synonym: "malignant hypertensive heart disease (disorder)" EXACT [] synonym: "malignant hypertensive heart disease NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:5480 name: ovarian endometrioid adenofibroma def: "An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9631607] subset: NCIthesaurus xref: NCI:C27287 is_a: DOID:0060112 ! ovarian benign neoplasm [Term] id: DOID:5482 name: cystadenofibroma def: "An ovarian benign neoplasm that is composed_of epithelial ovarian tissue." [url:http\://www.ajronline.org/cgi/content/full/182/5/1259] subset: NCIthesaurus xref: MESH:D062625 xref: NCI:C8985 xref: SNOMEDCT_US_2023_03_01:2962009 xref: UMLS_CUI:C0334317 is_a: DOID:0060112 ! ovarian benign neoplasm is_a: DOID:2683 ! adenofibroma [Term] id: DOID:5484 name: fibrous synovial sarcoma subset: NCIthesaurus synonym: "fibrous sarcoma of Synovium" EXACT [] xref: NCI:C6533 xref: UMLS_CUI:C1333616 is_a: DOID:5485 ! synovial sarcoma [Term] id: DOID:5485 name: synovial sarcoma def: "A synovium cancer which develops in the synovial membrane of the joints." [url:http\://en.wikipedia.org/wiki/Synovial_sarcoma, url:http\://www.cancer.gov/dictionary?cdrid=44626] comment: Xref MGI. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7721 xref: ICDO:9040/3 xref: MESH:D013584 xref: MIM:300813 xref: NCI:C3400 xref: SNOMEDCT_US_2023_03_01:63211008 xref: UMLS_CUI:C0039101 is_a: DOID:2706 ! synovium cancer [Term] id: DOID:5486 name: obsolete metastatic synovial sarcoma is_obsolete: true [Term] id: DOID:5487 name: spindle cell synovial sarcoma subset: NCIthesaurus synonym: "Synovial sarcoma with spindle cell Components" EXACT [] synonym: "Synovial sarcoma, monophasic fibrous" EXACT [] xref: NCI:C4277 xref: SNOMEDCT_US_2023_03_01:37206003 xref: UMLS_CUI:C0334505 is_a: DOID:5485 ! synovial sarcoma [Term] id: DOID:5488 name: mediastinum synovial sarcoma def: "A synovial sarcoma that is located_in the mediastinum." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2001131/] subset: NCIthesaurus synonym: "Synovial sarcoma of mediastinum" EXACT [] xref: NCI:C6618 xref: UMLS_CUI:C1334681 is_a: DOID:5485 ! synovial sarcoma [Term] id: DOID:5489 name: obsolete adult synovial sarcoma def: "An adult sarcoma of soft tissue and synovial sarcoma that affects non-epithelial, extraskeletal tissue of the body, including the muscle, fat, fibrous tissue, vessels and peripheral nervous system." [url:http\://sarcomahelp.org/learning_center/synovial_sarcoma.html] is_obsolete: true [Term] id: DOID:5491 name: obsolete pediatric synovial sarcoma is_obsolete: true [Term] id: DOID:5492 name: biphasic synovial sarcoma subset: NCIthesaurus synonym: "Biphasic sarcoma of Synovium" EXACT [] synonym: "Synovial sarcoma, biphasic" EXACT [] xref: NCI:C4279 xref: SNOMEDCT_US_2023_03_01:18588008 xref: UMLS_CUI:C0334507 is_a: DOID:5485 ! synovial sarcoma [Term] id: DOID:5493 name: obsolete recurrent synovial sarcoma synonym: "relapsed Synovial sarcoma" EXACT [] is_obsolete: true [Term] id: DOID:5494 name: epithelioid cell synovial sarcoma subset: NCIthesaurus synonym: "epithelioid Synovial sarcoma" EXACT [] synonym: "Synovial sarcoma, epithelioid cell" EXACT [] xref: NCI:C4278 xref: SNOMEDCT_US_2023_03_01:56422000 xref: UMLS_CUI:C0334506 is_a: DOID:5485 ! synovial sarcoma [Term] id: DOID:5495 name: monophasic synovial sarcoma subset: NCIthesaurus synonym: "Monophasic sarcoma of Synovium" EXACT [] xref: NCI:C6534 xref: UMLS_CUI:C1334801 is_a: DOID:5485 ! synovial sarcoma [Term] id: DOID:5496 name: obsolete nonmetastatic synovial sarcoma synonym: "Non-metastatic Synovial sarcoma" EXACT [] is_obsolete: true [Term] id: DOID:5497 name: obsolete Hepadnaviridae infectious disease def: "A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses." [url:http\://en.wikipedia.org/wiki/Hepadnaviridae] is_obsolete: true [Term] id: DOID:5500 name: cellular ependymoma subset: NCIthesaurus xref: MESH:D004806 xref: NCI:C4713 xref: SNOMEDCT_US_2023_03_01:57706008 xref: UMLS_CUI:C1384403 is_a: DOID:4844 ! benign ependymoma [Term] id: DOID:5501 name: Pediculus humanus capitis infestation def: "A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability." [url:http\://en.wikipedia.org/wiki/Head-louse_infestation, url:http\://www.dpd.cdc.gov/dpdx/HTML/HeadLice.htm] subset: DO_infectious_disease_slim synonym: "head louse infestation" EXACT [] synonym: "Pediculosis capitis" EXACT [] synonym: "Pediculus capitis" EXACT [] synonym: "Pediculus capitis infestation" EXACT [] xref: ICD10CM:B85.0 xref: ICD9CM:132.0 xref: SNOMEDCT_US_2023_03_01:81000006 xref: UMLS_CUI:C0030757 is_a: DOID:5502 ! lice infestation [Term] id: DOID:5502 name: lice infestation alt_id: DOID:5490 alt_id: DOID:5523 def: "A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera." [url:http\://en.wikipedia.org/wiki/Pediculosis] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Infestation by Pediculus" EXACT [] synonym: "Louse infestation" EXACT [] synonym: "mixed pediculosis" EXACT [] synonym: "mixed pediculosis infestation" EXACT [] synonym: "pediculosis" EXACT [] synonym: "Pediculosis + lice" EXACT [] synonym: "pediculosis and phthirus infection" EXACT [] synonym: "Pediculosis and phthirus infections" EXACT [] synonym: "Pediculosis and phthirus infestation" EXACT [] xref: ICD10CM:B85.2 xref: ICD9CM:132.9 xref: MESH:D010373 xref: NCI:C128401 xref: SNOMEDCT_US_2023_03_01:74949007 xref: UMLS_CUI:C0030756 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease [Term] id: DOID:5503 name: spinal cord ependymoma def: "A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal." [url:http\://www.cancer.gov/dictionary?CdrID=46432] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Ependymal neoplasm of the Spinal Cord" EXACT [] synonym: "Spinal ependymoma" EXACT [] xref: ICDO:9391/3 xref: NCI:C3875 xref: SNOMEDCT_US_2023_03_01:254949006 xref: UMLS_CUI:C0238432 is_a: DOID:3185 ! spinal cord glioma is_a: DOID:5074 ! high grade ependymoma [Term] id: DOID:5504 name: tanycytic ependymoma subset: NCIthesaurus xref: NCI:C6903 xref: SNOMEDCT_US_2023_03_01:57706008 xref: UMLS_CUI:C1370500 is_a: DOID:4844 ! benign ependymoma [Term] id: DOID:5505 name: papillary ependymoma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9393/3 xref: MESH:D004806 xref: NCI:C4319 xref: SNOMEDCT_US_2023_03_01:112686007 xref: UMLS_CUI:C0334578 is_a: DOID:4844 ! benign ependymoma [Term] id: DOID:5507 name: clear cell ependymoma is_a: DOID:4844 ! benign ependymoma [Term] id: DOID:5508 name: brain stem ependymoma def: "A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells." [url:https\://en.wikipedia.org/wiki/Ependyma, url:https\://en.wikipedia.org/wiki/Ependymoma] subset: NCIthesaurus synonym: "Ependymoma of the Brainstem" EXACT [] xref: NCI:C5098 xref: SNOMEDCT_US_2023_03_01:107561000119107 xref: UMLS_CUI:C1332609 is_a: DOID:3185 ! spinal cord glioma is_a: DOID:5074 ! high grade ependymoma [Term] id: DOID:5509 name: childhood ependymoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: NCI:C8578 is_a: DOID:5074 ! high grade ependymoma [Term] id: DOID:551 name: toxic pneumonitis alt_id: DOID:549 alt_id: DOID:550 alt_id: DOID:553 alt_id: DOID:554 def: "A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects." [url:https\://hazmap.nlm.nih.gov/category-details?id=306&table=tbldiseases] synonym: "acute chemical fume pulmonary edema" EXACT [] synonym: "acute chemical pulmonary edema" EXACT [] xref: ICD9CM:506.9 xref: UMLS_CUI:C0041881 is_a: DOID:552 ! pneumonia [Term] id: DOID:5510 name: pineal dysgerminoma subset: NCIthesaurus xref: NCI:C7169 xref: UMLS_CUI:C1335415 is_a: DOID:1660 ! malignant pineal area germ cell neoplasm [Term] id: DOID:5511 name: dysgerminoma of ovary def: "A dysgerminoma that is located_in the ovary." [url:http\://en.wikipedia.org/wiki/Dysgerminoma, url:http\://www.cancer.gov/dictionary?CdrID=672835] subset: NCIthesaurus synonym: "Ovarian Dysgerminoma" EXACT [] xref: NCI:C8106 xref: SNOMEDCT_US_2023_03_01:254874008 xref: UMLS_CUI:C0346185 is_a: DOID:4441 ! dysgerminoma [Term] id: DOID:5513 name: Pediculus humanus corporis infestation def: "A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000838.htm] subset: DO_infectious_disease_slim synonym: "body louse infestation" EXACT [] synonym: "Pediculus corporis" EXACT [] synonym: "Pediculus humanus infestation" EXACT [] xref: ICD10CM:B85.1 xref: ICD9CM:132.1 xref: SNOMEDCT_US_2023_03_01:25188002 xref: UMLS_CUI:C0030758 is_a: DOID:5502 ! lice infestation [Term] id: DOID:5514 name: breast squamous cell carcinoma alt_id: DOID:7300 def: "A breast metaplastic carcinoma that arises from squamous epithelial cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931217/] subset: NCIthesaurus synonym: "breast primary squamous cell carcinoma" EXACT [] synonym: "primary squamous cell carcinoma of breast" RELATED [] synonym: "primary squamous cell carcinoma of the breast" EXACT [] synonym: "SCC of breast" EXACT [] synonym: "squamous cell carcinoma of breast" RELATED [] xref: NCI:C5177 xref: UMLS_CUI:C1336079 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4680 ! breast metaplastic carcinoma [Term] id: DOID:5515 name: nasal cavity squamous cell carcinoma def: "A nasal cavity carcinoma that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "squamous cell carcinoma of nasal cavity" RELATED [] synonym: "squamous cell carcinoma of the nasal cavity" EXACT [] xref: MESH:D000077195 xref: NCI:C8192 xref: UMLS_CUI:C0280333 is_a: DOID:10811 ! nasal cavity cancer is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:5516 name: gastric squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the stomach." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21113875] subset: NCIthesaurus synonym: "squamous cell carcinoma of stomach" EXACT [] xref: NCI:C5475 xref: SNOMEDCT_US_2023_03_01:766980008 xref: UMLS_CUI:C1333789 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:5517 ! stomach carcinoma [Term] id: DOID:5517 name: stomach carcinoma def: "A stomach cancer that is located_in the stomach." [url:http\://en.wikipedia.org/wiki/Stomach_cancer] subset: DO_cancer_slim subset: NCIthesaurus synonym: "cancer of the stomach" EXACT [] synonym: "carcinoma of stomach" EXACT [] synonym: "gastric carcinoma" EXACT [] xref: EFO:0000178 xref: NCI:C4911 xref: SNOMEDCT_US_2023_03_01:154446008 xref: UMLS_CUI:C0699791 is_a: DOID:10534 ! stomach cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:5518 name: penis squamous cell carcinoma alt_id: DOID:8008 def: "A penis carcinoma that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Epidermoid cell carcinoma of penis" EXACT [] synonym: "squamous cell carcinoma of penis" RELATED [] xref: NCI:C6979 xref: NCI:C7729 xref: SNOMEDCT_US_2023_03_01:403468003 xref: UMLS_CUI:C0238348 xref: UMLS_CUI:C1336081 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:3449 ! penis carcinoma [Term] id: DOID:5519 name: colon squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the colon." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10211528] subset: NCIthesaurus synonym: "Colonic Epidermoid carcinoma" EXACT [] synonym: "squamous cell carcinoma of colon" RELATED [] xref: NCI:C5490 xref: SNOMEDCT_US_2023_03_01:766981007 xref: UMLS_CUI:C1333100 is_a: DOID:1520 ! colon carcinoma is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:552 name: pneumonia alt_id: DOID:10509 alt_id: DOID:11742 alt_id: DOID:5871 def: "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." [url:http\://en.wikipedia.org/wiki/Pneumonia] subset: NCIthesaurus synonym: "acute pneumonia" EXACT [] xref: MESH:D011014 xref: NCI:C3333 xref: SNOMEDCT_US_2023_03_01:266391003 xref: UMLS_CUI:C0032285 is_a: DOID:850 ! lung disease [Term] id: DOID:5520 name: head and neck squamous cell carcinoma def: "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck." [url:http\://en.wikipedia.org/wiki/Head_and_neck_cancer#Squamous_cell_carcinoma, url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck, url:http\://www.cancer.gov/dictionary?CdrID=597171] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "carcinoma of the head and neck" EXACT [] synonym: "squamous cell carcinoma of the head and neck" EXACT [] synonym: "squamous cell carcinomas of head and neck" EXACT [] xref: GARD:8503 xref: MESH:D000077195 xref: MIM:275355 xref: NCI:C34447 xref: SNOMEDCT_US_2023_03_01:716659002 xref: UMLS_CUI:C1168401 is_a: DOID:1542 ! head and neck carcinoma is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:5521 name: keratinizing squamous cell carcinoma def: "A squamous cell carcinoma that presents as single, isolated cells with bizarre cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris." [url:http\://books.google.com/books?id=TQju7e__pRIC&pg=PA1132&lpg=PA1132&dq#v=onepage&q&f=false] subset: NCIthesaurus synonym: "keratinizing epidermoid carcinoma" EXACT [] synonym: "squamous cell carcinoma, keratinizing" EXACT [] xref: NCI:C4105 xref: SNOMEDCT_US_2023_03_01:18048008 xref: UMLS_CUI:C0334247 is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:5522 name: basaloid squamous cell carcinoma def: "A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19738459] subset: NCIthesaurus synonym: "Basaloid carcinoma" EXACT [] xref: ICDO:8083/3 xref: NCI:C54244 xref: SNOMEDCT_US_2023_03_01:128634009 xref: UMLS_CUI:C1266005 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:5524 name: adenoid squamous cell carcinoma alt_id: DOID:6593 def: "A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis." [url:http\://en.wikipedia.org/wiki/Adenoid_squamous-cell_carcinoma] subset: NCIthesaurus synonym: "Acantholytic squamous cell carcinoma" EXACT [] synonym: "adenoacanthoma" EXACT [] synonym: "adenocarcinoma with squamous metaplasia" EXACT [] synonym: "Pseudoglandular squamous carcinoma" EXACT [] xref: NCI:C4200 xref: SNOMEDCT_US_2023_03_01:15176003 xref: SNOMEDCT_US_2023_03_01:85956000 xref: UMLS_CUI:C0334250 xref: UMLS_CUI:C0334393 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:8858 ! tonsil cancer [Term] id: DOID:5525 name: anal squamous cell carcinoma def: "An anal carcinoma that arises near the squamocolumnar junction." [url:http\://en.wikipedia.org/wiki/Anal_cancer] subset: NCIthesaurus synonym: "Epidermoid anal carcinoma" EXACT [] xref: NCI:C9161 xref: SNOMEDCT_US_2023_03_01:255084004 xref: UMLS_CUI:C1412036 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4908 ! anal carcinoma [Term] id: DOID:5526 name: middle ear squamous cell carcinoma def: "A middle ear carcinoma that has_material_basis_in squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Epidermoid carcinoma of the middle ear" EXACT [] synonym: "squamous cell carcinoma of middle ear" RELATED [] xref: NCI:C6086 xref: UMLS_CUI:C1334762 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4893 ! middle ear carcinoma [Term] id: DOID:5527 name: ampulla of Vater squamous cell carcinoma def: "An ampulla of Vater carcinoma that derives_from epithelial squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] subset: NCIthesaurus xref: NCI:C27417 xref: UMLS_CUI:C1332251 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4932 ! ampulla of Vater carcinoma [Term] id: DOID:5528 name: rectum squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the rectum." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25956212] subset: NCIthesaurus synonym: "squamous carcinoma of rectum" EXACT [] synonym: "squamous cell carcinoma of the rectum" RELATED [] xref: NCI:C5554 xref: SNOMEDCT_US_2023_03_01:766979005 xref: UMLS_CUI:C1335690 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:1993 ! rectum cancer [Term] id: DOID:5529 name: lacrimal gland squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the lacrimal gland." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12724709] subset: NCIthesaurus synonym: "Epidermoid carcinoma of the lacrimal gland" EXACT [] synonym: "squamous cell carcinoma of lacrimal gland" RELATED [] xref: NCI:C6092 xref: UMLS_CUI:C5447980 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:293 ! lacrimal gland carcinoma [Term] id: DOID:5530 name: thymus squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the thymus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23235139] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Epidermoid Thymic carcinoma" EXACT [] xref: NCI:C6455 xref: UMLS_CUI:C1336082 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:3284 ! thymic carcinoma [Term] id: DOID:5531 name: ovarian squamous cell carcinoma alt_id: DOID:5532 def: "An ovarian carcinoma that derives_from squamous epithelial cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25511544] subset: NCIthesaurus synonym: "ovarian squamous cell neoplasm" EXACT [] synonym: "squamous cell carcinoma of ovary" EXACT [] xref: NCI:C40093 xref: UMLS_CUI:C2019443 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:2394 ! ovarian cancer [Term] id: DOID:5532 name: obsolete ovarian squamous cell neoplasm def: "An ovary epithelial cancer that has_material_basis_in squamous cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25511544] comment: Retired NCI concept. subset: NCIthesaurus is_obsolete: true [Term] id: DOID:5533 name: endometrial squamous cell carcinoma def: "An endometrial carcinoma that has_material_basis_in squamous cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24615329] subset: NCIthesaurus synonym: "squamous cell carcinoma of Endometrium" EXACT [] xref: NCI:C8719 xref: SNOMEDCT_US_2023_03_01:733359005 xref: UMLS_CUI:C1333396 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:2871 ! endometrial carcinoma [Term] id: DOID:5534 name: renal pelvis squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the renal pelvis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24493112] subset: NCIthesaurus synonym: "Epidermoid carcinoma of the kidney Pelvis" EXACT [] synonym: "squamous cell carcinoma of renal pelvis" RELATED [] xref: NCI:C7732 xref: UMLS_CUI:C0238409 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4919 ! renal pelvis carcinoma [Term] id: DOID:5535 name: gallbladder squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the gallbladder." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26236536] subset: NCIthesaurus synonym: "Epidermoid gallbladder carcinoma" EXACT [] synonym: "squamous cell carcinoma of the gallbladder" RELATED [] xref: NCI:C9170 xref: UMLS_CUI:C0279658 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4948 ! gallbladder carcinoma [Term] id: DOID:5536 name: sarcomatoid squamous cell skin carcinoma subset: NCIthesaurus synonym: "spindle cell (sarcomatoid) squamous cell carcinoma" EXACT [] synonym: "spindle cell (sarcomatoid) squamous cell skin carcinoma" EXACT [] synonym: "spindle cell squamous carcinoma of skin" EXACT [] synonym: "spindle cell squamous cell carcinoma" EXACT [] synonym: "squamous cell carcinoma, sarcomatoid" EXACT [] xref: NCI:C27084 xref: SNOMEDCT_US_2023_03_01:10288008 xref: UMLS_CUI:C0349656 is_a: DOID:3151 ! skin squamous cell carcinoma [Term] id: DOID:5537 name: squamous cell bile duct carcinoma def: "A squamous cell carcinoma that is located_in the bile duct." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15767732] subset: NCIthesaurus synonym: "bile duct squamous cell carcinoma" EXACT [] xref: NCI:C5777 xref: UMLS_CUI:C0861861 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4897 ! bile duct carcinoma [Term] id: DOID:5538 name: external ear squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the external ear." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2459330/] subset: NCIthesaurus synonym: "Epidermoid carcinoma of the External ear" EXACT [] synonym: "squamous cell carcinoma of external ear" RELATED [] xref: NCI:C6083 xref: UMLS_CUI:C1333494 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4288 ! external ear carcinoma [Term] id: DOID:5539 name: ureter squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the ureter." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17574059] subset: NCIthesaurus synonym: "ureteral Epidermoid carcinoma" EXACT [] xref: NCI:C6154 xref: UMLS_CUI:C1336879 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4939 ! ureter carcinoma [Term] id: DOID:5540 name: fallopian tube squamous cell carcinoma def: "A fallopian tube carcinoma that derives_from squamous epithelial cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22707217] subset: NCIthesaurus synonym: "squamous cell carcinoma of the fallopian tube" EXACT [] xref: NCI:C6282 xref: UMLS_CUI:C1333596 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:1963 ! fallopian tube carcinoma [Term] id: DOID:5545 name: anal neuroendocrine tumor subset: NCIthesaurus synonym: "anal neuroendocrine tumour" EXACT [] synonym: "neuroendocrine tumor of anus" EXACT [] synonym: "neuroendocrine tumour of anus" EXACT [] xref: NCI:C5603 xref: UMLS_CUI:C1332273 is_a: DOID:4551 ! anus benign neoplasm [Term] id: DOID:5546 name: femoral cancer def: "A bone cancer that is located_in the femur." [url:https\://pubmed.ncbi.nlm.nih.gov/35402113/] synonym: "cancer of the femur" EXACT [] synonym: "femoral neoplasm" RELATED [] synonym: "neoplasm of femur" EXACT [] xref: MESH:D005266 xref: SNOMEDCT_US_2023_03_01:126583006 xref: UMLS_CUI:C0015807 is_a: DOID:184 ! bone cancer [Term] id: DOID:5547 name: pulmonary artery choriocarcinoma def: "A choriocarcinoma that is located_in the pulmonary artery." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11834687] subset: NCIthesaurus synonym: "Syncytioma of pulmonary artery" EXACT [] xref: NCI:C5381 xref: UMLS_CUI:C1335571 is_a: DOID:1324 ! lung cancer is_a: DOID:175 ! vascular cancer is_a: DOID:3594 ! choriocarcinoma is_a: DOID:60001 ! pulmonary artery disease [Term] id: DOID:5549 name: obsolete CNS choriocarcinoma synonym: "Choriocarcinoma of CNS" EXACT [] is_obsolete: true [Term] id: DOID:5550 name: choriocarcinoma of ovary def: "A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129104/] subset: NCIthesaurus synonym: "Ovarian Choriocarcinoma" EXACT [] xref: NCI:C4515 xref: SNOMEDCT_US_2023_03_01:254870004 xref: UMLS_CUI:C0346181 is_a: DOID:2155 ! malignant ovarian germ cell neoplasm is_a: DOID:3594 ! choriocarcinoma [Term] id: DOID:5551 name: choriocarcinoma of the testis def: "A choriocarcinoma that is located_in the testis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24949806] subset: NCIthesaurus synonym: "testicular Choriocarcinoma" EXACT [] xref: NCI:C7733 xref: SNOMEDCT_US_2023_03_01:147371000119101 xref: UMLS_CUI:C0238449 is_a: DOID:3594 ! choriocarcinoma [Term] id: DOID:5552 name: obsolete mediastinum choriocarcinoma synonym: "Choriocarcinoma of mediastinum" EXACT [] is_obsolete: true [Term] id: DOID:5553 name: pineal region choriocarcinoma subset: NCIthesaurus synonym: "Pineal Choriocarcinoma" EXACT [] xref: NCI:C6759 xref: UMLS_CUI:C1335414 is_a: DOID:1660 ! malignant pineal area germ cell neoplasm [Term] id: DOID:5556 name: testicular malignant germ cell cancer subset: NCIthesaurus synonym: "malignant germ cell tumor of testis" EXACT [] xref: NCI:C9063 xref: SNOMEDCT_US_2023_03_01:713646001 xref: UMLS_CUI:C0855197 is_a: DOID:5557 ! testicular germ cell cancer [Term] id: DOID:5557 name: testicular germ cell cancer def: "A testicular cancer that has_material_basis_in germ cells." [url:http\://cancergenome.nih.gov/cancersselected/TesticularGermCellCancer, url:http\://www.cancer.gov/dictionary?CdrID=445090, url:http\://www.cancer.gov/dictionary?CdrID=695185] comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "germ cell tumor of testis" EXACT [] synonym: "testicular germ cell neoplasm" RELATED [] xref: MESH:C563236 xref: MIM:273300 xref: MIM:300228 xref: NCI:C8591 xref: ORDO:3636504 xref: SNOMEDCT_US_2023_03_01:713577007 xref: UMLS_CUI:C1336708 is_a: DOID:2998 ! testicular cancer [Term] id: DOID:5559 name: mediastinal cancer alt_id: DOID:9914 def: "A thoracic cancer that is located_in the mediastinum." [url:http\://en.wikipedia.org/wiki/Mediastinal] subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "mediastinal tumor" EXACT [] synonym: "mediastinum cancer" EXACT [] synonym: "neoplasm of mediastinum" EXACT [] synonym: "Tumour of mediastinum" EXACT [] xref: ICD10CM:C38.3 xref: ICD9CM:164.9 xref: MESH:D008479 xref: NCI:C3221 xref: NCI:C3549 xref: SNOMEDCT_US_2023_03_01:363494000 xref: SNOMEDCT_US_2023_03_01:94147001 xref: UMLS_CUI:C0025063 xref: UMLS_CUI:C0153504 is_a: DOID:5093 ! thoracic cancer [Term] id: DOID:5560 name: mediastinal mesenchymal tumor subset: NCIthesaurus synonym: "mediastinal mesenchymal tumour" EXACT [] synonym: "soft tissue tumor of mediastinum" EXACT [] synonym: "soft tissue tumour of mediastinum" EXACT [] xref: NCI:C6637 xref: UMLS_CUI:C1334669 is_a: DOID:5559 ! mediastinal cancer [Term] id: DOID:5561 name: gastric teratoma def: "A teratoma that is located_in the stomach or other gastric tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26850909] subset: NCIthesaurus synonym: "teratoma of stomach" EXACT [] xref: NCI:C5259 xref: UMLS_CUI:C1333790 is_a: DOID:10534 ! stomach cancer [Term] id: DOID:5562 name: obsolete dermoid cyst with malignant transformation synonym: "Dermoid cyst with malignant transformation (morphologic abnormality)" EXACT [] synonym: "teratoma with malignant Transformation" EXACT [] synonym: "teratoma with malignant transformation (morphologic abnormality)" EXACT [] synonym: "teratoma with malignant transformation [dup] (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:5563 name: malignant teratoma alt_id: DOID:6106 def: "A teratoma that is cancerous." [url:https\://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Immature teratoma" EXACT [] synonym: "malignant Extragonadal teratoma" EXACT [] synonym: "primary malignant extragonadal teratoma" EXACT [] synonym: "Teratoma, malignant, NOS" EXACT [] xref: ICDO:9080/3 xref: MESH:D013724 xref: NCI:C4286 xref: NCI:C8884 xref: SNOMEDCT_US_2023_03_01:1157239001 xref: UMLS_CUI:C0334520 xref: UMLS_CUI:C0855163 is_a: DOID:3307 ! teratoma [Term] id: DOID:5564 name: fallopian tube teratoma def: "A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14127249] subset: NCIthesaurus xref: NCI:C40131 xref: UMLS_CUI:C1517127 is_a: DOID:1964 ! fallopian tube cancer [Term] id: DOID:5565 name: adult teratoma def: "A benign teratoma that is present in an adult." [url:https\://www.sciencedirect.com/science/article/pii/B9780702031311000353] subset: NCIthesaurus xref: NCI:C9013 xref: SNOMEDCT_US_2023_03_01:42717009 xref: UMLS_CUI:C1368898 is_a: DOID:0080602 ! benign teratoma [Term] id: DOID:5566 name: mature teratoma def: "A teratoma that is composed exclusively of mature tissues derived from two or three germ layers." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/mature-teratoma] subset: NCIthesaurus xref: ICDO:9080/0 xref: NCI:C9015 xref: SNOMEDCT_US_2023_03_01:55818009 xref: UMLS_CUI:C1368910 is_a: DOID:3307 ! teratoma [Term] id: DOID:5567 name: ovarian germ cell teratoma subset: NCIthesaurus synonym: "germ cell teratoma of Ovary" EXACT [] xref: NCI:C8110 xref: SNOMEDCT_US_2023_03_01:716077006 xref: UMLS_CUI:C0280131 is_a: DOID:2156 ! ovarian germ cell cancer [Term] id: DOID:5568 name: mediastinum teratoma def: "A teratoma that is located_in the mediastinum." [url:https\://radiopaedia.org/articles/mediastinal-teratoma\,, url:https\://www.sciencedirect.com/science/article/pii/S1755001709000323] subset: NCIthesaurus synonym: "teratoma of mediastinum" EXACT [] xref: NCI:C6438 xref: UMLS_CUI:C1334682 is_a: DOID:5559 ! mediastinal cancer [Term] id: DOID:5569 name: malignant syringoma synonym: "Microcystic Adnexal carcinoma" EXACT [] synonym: "Microcystic adnexal carcinoma of skin" EXACT [] synonym: "Syringomatous carcinoma" EXACT [] is_a: DOID:4921 ! eccrine sweat gland cancer [Term] id: DOID:557 name: kidney disease alt_id: DOID:11705 def: "A urinary system disease that is located_in the kidney." [url:http\://www.nlm.nih.gov/medlineplus/kidneydiseases.html] subset: DO_FlyBase_slim subset: DO_RAD_slim subset: NCIthesaurus synonym: "impaired renal function disease" EXACT [] synonym: "nephropathy" EXACT [] xref: EFO:0003086 xref: ICD10CM:N08 xref: MESH:D007674 xref: NCI:C3149 xref: SNOMEDCT_US_2023_03_01:266612003 xref: UMLS_CUI:C0022658 is_a: DOID:18 ! urinary system disease [Term] id: DOID:5570 name: malignant acrospiroma subset: NCIthesaurus synonym: "anaplastic syringoma" EXACT [] synonym: "Eccrine ductal carcinoma" EXACT [] synonym: "Eccrine ductal carcinoma of skin" EXACT [] xref: NCI:C43345 xref: SNOMEDCT_US_2023_03_01:403939009 xref: UMLS_CUI:C1260964 is_a: DOID:2095 ! sweat gland cancer [Term] id: DOID:5572 name: Beckwith-Wiedemann syndrome def: "A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations." [url:http\://en.wikipedia.org/wiki/Beckwith%E2%80%93Wiedemann_syndrome, url:http\://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/52/viewAbstract] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:3343 xref: ICD10CM:Q87.3 xref: MESH:D001506 xref: MIM:130650 xref: NCI:C34415 xref: ORDO:116 xref: SNOMEDCT_US_2023_03_01:81780002 xref: UMLS_CUI:C0004903 is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:D001506" xsd:string [Term] id: DOID:5573 name: obsolete classical swine fever def: "A viral infectious disease that results_in infection in swine, has_material_basis_in Classical swine fever virus, which is transmitted_by direct contact with oronasal secretions of the infected pig, transmitted_by ingestion of contaminated food, and transmitted_by fomites. The infection has_symptom high fever, has_symptom huddling, has_symptom weakness, has_symptom drowsiness, has_symptom anorexia, has_symptom conjunctivitis, has_symptom diarrhea, and has_symptom hemorrhages in the skin." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/classical_swine_fever.pdf] synonym: "Hog cholera (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:5574 name: VIPoma subset: DO_rare_slim subset: NCIthesaurus synonym: "malignant vasoactive intestinal peptide-secreting tumor" EXACT [] synonym: "Vasoactive intestinal peptide-secreting tumor" EXACT [] synonym: "VIP- Secreting tumor" EXACT [] synonym: "Vipoma, malignant" EXACT [] xref: GARD:5493 xref: ICDO:8155/3 xref: MESH:D003969 xref: NCI:C26749 xref: SNOMEDCT_US_2023_03_01:447643008 xref: UMLS_CUI:C0011993 is_a: DOID:169 ! neuroendocrine tumor [Term] id: DOID:5575 name: obsolete delayed puberty synonym: "Delay in sexual development and/or puberty" EXACT [] synonym: "Delayed puberty" EXACT [] synonym: "delayed puberty" EXACT [] synonym: "Delayed puberty (& [NOS])" EXACT [] synonym: "Delayed puberty (disorder)" EXACT [] synonym: "Delayed puberty NOS" EXACT [] is_obsolete: true [Term] id: DOID:5576 name: inhibited male orgasm subset: NCIthesaurus synonym: "male Orgasmic disorder" EXACT [] xref: ICD10CM:F52.32 xref: NCI:C34959 xref: SNOMEDCT_US_2023_03_01:81903006 xref: UMLS_CUI:C0033949 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:5577 name: gastrinoma def: "A neuroendocrine tumor that results_in an overproduction of gastric acid." [url:http\://www.cancer.gov/dictionary?CdrID=44239] subset: NCIthesaurus synonym: "Gastrin cell tumour" EXACT [] synonym: "Gastrin Secreting tumor" EXACT [] synonym: "malignant gastrinoma" EXACT [] xref: ICDO:8153/3 xref: MESH:D015408 xref: NCI:C3050 xref: SNOMEDCT_US_2023_03_01:16189002 xref: UMLS_CUI:C0017150 is_a: DOID:169 ! neuroendocrine tumor [Term] id: DOID:5578 name: obsolete small intestinal gastrinoma synonym: "small intestinal G-cell gastrin producing tumor" EXACT [] is_obsolete: true [Term] id: DOID:5579 name: gastric gastrinoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "gastric G-cell gastrin producing tumor" EXACT [] xref: NCI:C27444 xref: UMLS_CUI:C1333767 is_a: DOID:10534 ! stomach cancer [Term] id: DOID:558 name: obsolete acute pyelonephritis without lesion of renal medullary necrosis is_obsolete: true [Term] id: DOID:5580 name: pancreatic gastrinoma subset: NCIthesaurus synonym: "pancreatic G-cell tumor" EXACT [] xref: NCI:C9069 xref: UMLS_CUI:C1368066 is_a: DOID:1799 ! islet cell tumor [Term] id: DOID:5583 name: lung giant cell carcinoma alt_id: DOID:5584 def: "A lung carcinoma that is located_in large undifferentiated cells." [url:http\://medical-dictionary.thefreedictionary.com/giant+cell+carcinoma] subset: NCIthesaurus synonym: "Giant cell carcinoma" EXACT [] synonym: "Giant cell lung carcinoma" EXACT [] xref: MESH:D018286 xref: NCI:C3779 xref: NCI:C4452 xref: SNOMEDCT_US_2023_03_01:254631008 xref: SNOMEDCT_US_2023_03_01:42596004 xref: UMLS_CUI:C0206703 xref: UMLS_CUI:C0345960 is_a: DOID:4556 ! lung large cell carcinoma [Term] id: DOID:5585 name: Ferguson-Smith tumor subset: NCIthesaurus synonym: "Multiple self-healing epithelioma of Ferguson-Smith" EXACT [] xref: NCI:C4461 xref: SNOMEDCT_US_2023_03_01:254659009 xref: UMLS_CUI:C0345982 is_a: DOID:3149 ! keratoacanthoma [Term] id: DOID:5587 name: Volkmann contracture def: "A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26815829] subset: NCIthesaurus synonym: "Volkmann's ischemic contracture" EXACT [] xref: ICD10CM:T79.6 xref: ICD9CM:958.6 xref: MESH:D054061 xref: NCI:C35130 xref: SNOMEDCT_US_2023_03_01:157667008 xref: UMLS_CUI:C0042951 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:5588 name: lung papillary adenocarcinoma def: "A papillary adenocarcinoma that is located_in the lung." [url:https\://radiopaedia.org/articles/mediastinal-teratoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/26766978] subset: NCIthesaurus synonym: "Papillary adenocarcinoma of the lung" EXACT [] xref: NCI:C5650 xref: SNOMEDCT_US_2023_03_01:1260068009 xref: UMLS_CUI:C1335325 is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:559 name: acute pyelonephritis subset: NCIthesaurus xref: ICD10CM:N10 xref: ICD9CM:590.1 xref: NCI:C123215 xref: SNOMEDCT_US_2023_03_01:155862004 xref: UMLS_CUI:C0520575 is_a: DOID:11400 ! pyelonephritis [Term] id: DOID:5590 name: aggressive digital papillary adenocarcinoma def: "A sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386778/, url:https\://www.ncbi.nlm.nih.gov/pubmed/28477887, url:https\://www.ncbi.nlm.nih.gov/pubmed/28495496, url:https\://www.ncbi.nlm.nih.gov/pubmed/28832985] is_a: DOID:299 ! adenocarcinoma is_a: DOID:5667 ! sweat gland carcinoma [Term] id: DOID:5591 name: eccrine papillary adenocarcinoma synonym: "Digital papillary adenocarcinoma" EXACT [] xref: SNOMEDCT_US_2023_03_01:128898008 xref: UMLS_CUI:C1367774 is_a: DOID:4920 ! eccrine adenocarcinoma [Term] id: DOID:5592 name: breast papillary carcinoma alt_id: DOID:6800 def: "A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244819/] subset: NCIthesaurus synonym: "breast solid papillary carcinoma" EXACT [] synonym: "papillary carcinoma of breast" RELATED [] synonym: "Papillary carcinoma of the breast" EXACT [] synonym: "solid papillary carcinoma of the breast" RELATED [] xref: NCI:C6870 xref: UMLS_CUI:C1336027 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:5593 name: gastric papillary adenocarcinoma def: "A papillary adenocarcinoma that is located_in the stomach." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11984707] subset: NCIthesaurus synonym: "Papillary adenocarcinoma of stomach" EXACT [] xref: NCI:C5472 xref: UMLS_CUI:C1333785 is_a: DOID:3717 ! gastric adenocarcinoma [Term] id: DOID:5594 name: obsolete intraductal papillary adenocarcinoma with invasion synonym: "Intraductal Papillary adenocarcinoma with Invasion" EXACT [] synonym: "Intraductal papillary adenocarcinoma with invasion (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:5595 name: papillary thymic adenocarcinoma subset: NCIthesaurus synonym: "Papillary carcinoma of the Thymus" EXACT [] xref: NCI:C27937 xref: UMLS_CUI:C1335327 is_a: DOID:4923 ! thymus adenocarcinoma [Term] id: DOID:5597 name: fallopian tube papillary adenocarcinoma def: "A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3425272/] subset: NCIthesaurus synonym: "Papillary adenocarcinoma of the fallopian tube" EXACT [] xref: NCI:C6267 xref: UMLS_CUI:C1333595 is_a: DOID:3706 ! fallopian tube adenocarcinoma [Term] id: DOID:5598 name: fallopian tube serous adenocarcinoma def: "A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25163242] subset: NCIthesaurus xref: NCI:C40099 xref: UMLS_CUI:C1517124 is_a: DOID:3706 ! fallopian tube adenocarcinoma [Term] id: DOID:5599 name: obsolete precursor T-lymphoblastic lymphoma/leukemia is_obsolete: true [Term] id: DOID:560 name: jaw-winking syndrome def: "A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw." [url:https\://pubmed.ncbi.nlm.nih.gov/16411218/] comment: OMIM mapping confirmed by DO. [SN]. synonym: "abnormal innervation syndrome of eyelid" EXACT [] synonym: "Jaw-blinking" EXACT [] synonym: "Marcus-Gunn syndrome" EXACT [] synonym: "Pterygoid-levator synkinesis" EXACT [] xref: ICD10CM:Q07.8 xref: ICD9CM:374.43 xref: MESH:C535908 xref: MIM:154600 xref: SNOMEDCT_US_2023_03_01:5127009 xref: UMLS_CUI:C0266521 is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:5600 name: obsolete precursor lymphoblastic lymphoma/leukemia is_obsolete: true [Term] id: DOID:5601 name: obsolete T-cell neoplasm is_obsolete: true [Term] id: DOID:5602 name: T-cell adult acute lymphocytic leukemia def: "An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9142] subset: NCIthesaurus synonym: "Acute Adult T-cell Leukemia-Lymphoma" EXACT [] synonym: "adult Precursor T Lymphoblastic Leukemia" EXACT [] synonym: "ATLL" EXACT OMO:0003012 [] xref: NCI:C9142 xref: UMLS_CUI:C0279592 is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia is_a: DOID:5604 ! adult acute lymphocytic leukemia [Term] id: DOID:5603 name: T-cell acute lymphoblastic leukemia alt_id: DOID:5599 alt_id: DOID:715 def: "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/expand/T] subset: DO_cancer_slim synonym: "acute T cell leukemia" EXACT [] synonym: "Precursor T Lymphoblastic Leukemia" EXACT [] synonym: "precursor T-lymphoblastic lymphoma/leukemia" EXACT [] synonym: "T Acute Lymphoblastic Leukemia" EXACT [] synonym: "T-cell acute lymphocytic leukaemia" EXACT [] synonym: "T-cell leukemia" EXACT [] synonym: "T-cell lymphoblastic leukemia/lymphoma" EXACT [] xref: ICDO:9729/3 xref: ICDO:9837/3 xref: MESH:D015458 xref: UMLS_CUI:C0023492 is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma is_a: DOID:9952 ! acute lymphoblastic leukemia [Term] id: DOID:5604 name: adult acute lymphocytic leukemia def: "An acute lymphocytic leukemia occurring during adulthood." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4967] subset: DO_cancer_slim subset: NCIthesaurus synonym: "adult acute lymphoid Leukemia" EXACT [] synonym: "adult ALL" EXACT [] xref: NCI:C4967 xref: UMLS_CUI:C0751606 is_a: DOID:9952 ! acute lymphoblastic leukemia [Term] id: DOID:5605 name: breast medullary carcinoma def: "A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology." [url:http\://surgpathcriteria.stanford.edu/breast/medcabr/printable.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/24065502] subset: NCIthesaurus synonym: "Medullary breast carcinoma with lymphoid Stroma" EXACT [] synonym: "medullary carcinoma of breast" RELATED [] xref: NCI:C9119 xref: UMLS_CUI:C0860580 is_a: DOID:3458 ! breast adenocarcinoma [Term] id: DOID:5608 name: dental pulp calcification synonym: "pulp calcification" EXACT [] synonym: "pulp calcifications" EXACT [] synonym: "pulpal calcifications" EXACT [] xref: ICD10CM:K04.2 xref: MESH:D003784 xref: SNOMEDCT_US_2023_03_01:57602001 xref: UMLS_CUI:C0011401 is_a: DOID:5330 ! dental pulp disease [Term] id: DOID:5609 name: obsolete congenital adrenal gland disorder is_obsolete: true [Term] id: DOID:561 name: trigeminal nerve disease xref: ICD9CM:350.8 xref: UMLS_CUI:C0029834 is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:5611 name: obsolete anaplastic intraspinal meningioma synonym: "malignant Intraspinal meningioma" EXACT [] is_obsolete: true [Term] id: DOID:5612 name: spinal cancer alt_id: DOID:3638 alt_id: DOID:7225 def: "A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer)." [url:http\://en.wikipedia.org/wiki/Spinal_tumor] subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "Intraspinal tumor" EXACT [] synonym: "malignant tumor of the Spinal Cord" EXACT [] synonym: "spinal cord cancer" EXACT [] synonym: "spinal cord neoplasm" EXACT [] synonym: "spinal neoplasm" RELATED [] synonym: "tumor of the Spinal Cord" EXACT [] xref: ICD10CM:C72.0 xref: ICD9CM:192.2 xref: MESH:D013120 xref: MESH:D013125 xref: NCI:C168693 xref: NCI:C3381 xref: NCI:C3572 xref: SNOMEDCT_US_2023_03_01:126962006 xref: SNOMEDCT_US_2023_03_01:709289008 xref: SNOMEDCT_US_2023_03_01:94068003 xref: UMLS_CUI:C0037930 xref: UMLS_CUI:C0037939 xref: UMLS_CUI:C0153646 is_a: DOID:319 ! spinal cord disease is_a: DOID:3620 ! central nervous system cancer [Term] id: DOID:5613 name: obsolete anaplastic meningioma synonym: "anaplastic (malignant) meningioma" EXACT [] synonym: "malignant meningioma (morphologic abnormality)" EXACT [] synonym: "meningioma, malignant (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:5614 name: eye disease alt_id: DOID:2933 def: "An eye and adnexa disease that is located_in the eye." [url:http\://en.wikipedia.org/wiki/Eye_disease] subset: DO_FlyBase_slim subset: DO_RAD_slim subset: NCIthesaurus xref: ICD10CM:H44 xref: ICD9CM:379.90 xref: MESH:D005128 xref: NCI:C26767 xref: SNOMEDCT_US_2023_03_01:371409005 xref: UMLS_CUI:C0015397 is_a: DOID:0050155 ! sensory system disease [Term] id: DOID:5615 name: spinal canal intradural extramedullary neoplasm subset: NCIthesaurus synonym: "Intradural Extramedullary Spinal tumors" EXACT [] xref: NCI:C5135 xref: UMLS_CUI:C1334255 is_a: DOID:5612 ! spinal cancer [Term] id: DOID:5616 name: obsolete intraepithelial neoplasm synonym: "epithelial Dysplasia" EXACT [] synonym: "epithelial dysplasia (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:562 name: third cranial nerve disease subset: NCIthesaurus synonym: "disorder of oculomotor nerve" EXACT [] synonym: "Oculomotor nerve disorder" EXACT [] xref: NCI:C27598 xref: SNOMEDCT_US_2023_03_01:60750009 xref: UMLS_CUI:C0271353 is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:5621 name: histiocytic and dendritic cell cancer def: "A sarcoma and hematologic cancer that derives_from follicular lymphoma." [url:http\://www.springerlink.com/content/h9wrn7p72x26q035/] subset: DO_cancer_slim subset: DO_RAD_slim subset: NCIthesaurus synonym: "histiocytic and dendritic cell" EXACT [] xref: NCI:C9294 xref: UMLS_CUI:C1334030 is_a: DOID:2531 ! hematologic cancer [Term] id: DOID:5622 name: obsolete Major puerperal infectious disease is_obsolete: true [Term] id: DOID:5623 name: adenosquamous breast carcinoma def: "A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma." [url:https\://www.nature.com/articles/modpathol201082] subset: NCIthesaurus xref: NCI:C40361 xref: UMLS_CUI:C1510796 is_a: DOID:1612 ! breast cancer is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:5624 name: adenosquamous bile duct carcinoma def: "A bile duct carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] subset: NCIthesaurus synonym: "bile duct Adenosquamous carcinoma" EXACT [] xref: NCI:C5778 xref: UMLS_CUI:C0861854 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4606 ! bile duct cancer [Term] id: DOID:5625 name: esophageal adenosquamous carcinoma def: "An esophageal carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] subset: NCIthesaurus xref: NCI:C27421 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:5041 ! esophageal cancer [Term] id: DOID:5626 name: thymus adenosquamous carcinoma def: "A thymic carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] subset: NCIthesaurus synonym: "Adenosquamous carcinoma of the Thymus" EXACT [] xref: NCI:C6458 xref: UMLS_CUI:C1332171 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:3277 ! thymus cancer [Term] id: DOID:5627 name: adenosquamous gallbladder carcinoma def: "A gallbladder carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] subset: NCIthesaurus synonym: "adenosquamous carcinoma of gallbladder" RELATED [] synonym: "Adenosquamous carcinoma of the gallbladder" EXACT [] xref: NCI:C7356 xref: UMLS_CUI:C1333741 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4948 ! gallbladder carcinoma [Term] id: DOID:5628 name: ampulla of Vater adenosquamous carcinoma def: "An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] subset: NCIthesaurus xref: NCI:C27418 xref: UMLS_CUI:C1332245 is_a: DOID:10020 ! ampulla of Vater cancer is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:5629 name: adenosquamous colon carcinoma def: "A colon carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] subset: NCIthesaurus synonym: "adenosquamous carcinoma of colon" RELATED [] synonym: "Colonic Adenosquamous carcinoma" EXACT [] xref: NCI:C5491 xref: UMLS_CUI:C1333082 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:219 ! colon cancer [Term] id: DOID:563 name: obsolete primary Fusobacteriaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:5630 name: Bartholin's gland adenosquamous carcinoma def: "A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] subset: NCIthesaurus synonym: "Bartholin gland adenosquamous carcinoma" EXACT [] xref: NCI:C40296 xref: UMLS_CUI:C1511050 is_a: DOID:3999 ! Bartholin's gland carcinoma [Term] id: DOID:5631 name: endometrial adenosquamous carcinoma def: "An endometrial carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] synonym: "Adenosquamous carcinoma of Endometrium" EXACT [] is_a: DOID:1380 ! endometrial cancer is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:5632 name: optic nerve sheath meningioma subset: NCIthesaurus synonym: "meningioma of optic nerve sheath" EXACT [] xref: NCI:C4538 xref: SNOMEDCT_US_2023_03_01:254978007 xref: UMLS_CUI:C0346328 is_a: DOID:3419 ! optic nerve neoplasm [Term] id: DOID:5633 name: obsolete visual pathway meningioma synonym: "meningioma of the optic tract" EXACT [] is_obsolete: true [Term] id: DOID:5634 name: adenosquamous prostate carcinoma def: "A prostate carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] subset: NCIthesaurus synonym: "adenosquamous carcinoma of prostate" RELATED [] synonym: "Adenosquamous carcinoma of the prostate" EXACT [] xref: NCI:C5538 xref: UMLS_CUI:C1335503 is_a: DOID:10283 ! prostate cancer is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:5635 name: gastric adenosquamous carcinoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Adenosquamous carcinoma of stomach" EXACT [] xref: NCI:C5474 xref: UMLS_CUI:C1333761 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:5517 ! stomach carcinoma [Term] id: DOID:5636 name: cervical adenosquamous carcinoma def: "A cervical carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma] subset: NCIthesaurus synonym: "Adenosquamous carcinoma of cervix" EXACT [] synonym: "Adenosquamous cell carcinoma of the Cervix Uteri" EXACT [] xref: NCI:C4519 xref: SNOMEDCT_US_2023_03_01:254888007 xref: UMLS_CUI:C0346202 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4362 ! cervical cancer [Term] id: DOID:5637 name: pancreatic adenosquamous carcinoma def: "A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells." [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5721, url:https\://www.ncbi.nlm.nih.gov/pubmed/24859531] subset: NCIthesaurus synonym: "Adenosquamous carcinoma of pancreas" EXACT [] synonym: "adenosquamous carcinoma of the pancreas" RELATED [] xref: NCI:C5721 xref: UMLS_CUI:C1335299 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:1793 ! pancreatic cancer [Term] id: DOID:5638 name: malignant giant cell tumor of soft parts subset: DO_cancer_slim subset: NCIthesaurus synonym: "malignant Giant cell neoplasm of soft Parts" EXACT [] xref: ICDO:9251/3 xref: NCI:C8380 xref: SNOMEDCT_US_2023_03_01:48460009 xref: UMLS_CUI:C0334554 is_a: DOID:2705 ! malignant giant cell tumor [Term] id: DOID:5639 name: rete testis neoplasm subset: NCIthesaurus xref: NCI:C39955 xref: UMLS_CUI:C1514912 is_a: DOID:3856 ! male reproductive organ cancer [Term] id: DOID:5641 name: diffuse pulmonary fibrosis def: "A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation." [url:https\://www.sciencedirect.com/science/article/pii/S0954611106004331] subset: NCIthesaurus xref: NCI:C27216 xref: UMLS_CUI:C0865849 is_a: DOID:3770 ! pulmonary fibrosis [Term] id: DOID:5642 name: localized pulmonary fibrosis def: "A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation." [url:https\://www.sciencedirect.com/science/article/pii/S0954611106004331] subset: NCIthesaurus xref: NCI:C27103 xref: SNOMEDCT_US_2023_03_01:233726000 xref: UMLS_CUI:C0340127 is_a: DOID:3770 ! pulmonary fibrosis [Term] id: DOID:5643 name: urethral villous adenoma subset: NCIthesaurus xref: NCI:C39872 xref: UMLS_CUI:C1519828 is_a: DOID:657 ! adenoma is_a: DOID:730 ! urethral benign neoplasm [Term] id: DOID:5644 name: tricuspid valve prolapse xref: MESH:D014263 xref: SNOMEDCT_US_2023_03_01:253383003 xref: UMLS_CUI:C0040962 is_a: DOID:0050826 ! tricuspid valve disease [Term] id: DOID:5648 name: choroid plexus carcinoma alt_id: DOID:5647 def: "A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus." [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://en.wikipedia.org/wiki/Choroid_plexus_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=45963] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:8238 xref: ICDO:9390/3 xref: MESH:C562943 xref: NCI:C4533 xref: NCI:C4715 xref: SNOMEDCT_US_2023_03_01:1156471001 xref: SNOMEDCT_US_2023_03_01:188292007 xref: UMLS_CUI:C0346289 xref: UMLS_CUI:C0431109 is_a: DOID:305 ! carcinoma is_a: DOID:3540 ! choroid plexus cancer [Term] id: DOID:5649 name: obsolete solid carcinoma synonym: "solid carcinoma NOS (morphologic abnormality)" EXACT [] synonym: "solid carcinoma with mucin formation" EXACT [] is_obsolete: true [Term] id: DOID:565 name: bilateral hypoactive labyrinth synonym: "Hypoactive bilateral labyrinthine dysfunction" EXACT [] synonym: "Hypoactive labyrinth, bilateral" EXACT [] xref: ICD9CM:386.54 xref: SNOMEDCT_US_2023_03_01:194375009 xref: UMLS_CUI:C0155518 is_a: DOID:566 ! labyrinthine dysfunction [Term] id: DOID:5651 name: obsolete anaplastic carcinoma def: "A carcinoma that results from uncontrolled proliferation of transformed cells of epithelial origin, which has no epithelial structural differentiation." [url:http\://en.wikipedia.org/wiki/Anaplastic_carcinoma, url:http\://www.mondofacto.com/facts/dictionary?anaplastic+carcinoma] synonym: "anaplastic carcinoma" EXACT [] synonym: "carcinoma, anaplastic (morphologic abnormality)" EXACT [] synonym: "carcinoma, anaplastic type, NOS (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:5652 name: obsolete metaplastic carcinoma synonym: "Metaplastic carcinoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:5655 name: chiasmal syndrome def: "An optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve." [url:https\://en.wikipedia.org/wiki/Chiasmal_syndrome] synonym: "chiasma syndrome" EXACT [] synonym: "disorder of optic chiasm" EXACT [] xref: ICD10CM:H47.4 xref: ICD9CM:377.5 xref: SNOMEDCT_US_2023_03_01:70476006 xref: UMLS_CUI:C0155307 is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:5656 name: cranial nerve disease def: "A neuropathy that is located_in one of the twelve cranial nerves." [url:http\://en.wikipedia.org/wiki/Cranial_nerve_disease, url:http\://www.ncbi.nlm.nih.gov/mesh/68003389] subset: NCIthesaurus synonym: "Cranial nerve disorder" EXACT [] synonym: "disorder of cranial nerve" EXACT [] xref: ICD10CM:G52.9 xref: ICD9CM:352.9 xref: MESH:D003389 xref: NCI:C26733 xref: SNOMEDCT_US_2023_03_01:73013002 xref: UMLS_CUI:C0010266 is_a: DOID:870 ! neuropathy [Term] id: DOID:5658 name: lipid-rich carcinoma def: "A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids." [url:http\://www.pathologyoutlines.com/topic/breastmalignantlipidrich.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/25789031\,] subset: NCIthesaurus xref: ICDO:8314/3 xref: NCI:C4152 xref: SNOMEDCT_US_2023_03_01:189655006 xref: UMLS_CUI:C0334318 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:5659 name: obsolete invasive carcinoma def: "A carcinoma that results_in a lesion that breaks through the boundary located_in the duct or located_in the lobule." [url:http\://www.partnershipforbreastcare.org/pbc/problems/pathology/invasive.aspx] is_obsolete: true [Term] id: DOID:566 name: labyrinthine dysfunction xref: ICD10CM:H83.2 xref: ICD9CM:386.5 xref: SNOMEDCT_US_2023_03_01:5239005 xref: UMLS_CUI:C0155514 is_a: DOID:2952 ! inner ear disease [Term] id: DOID:5660 name: lymphoepithelioma-like carcinoma def: "A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588446/] subset: NCIthesaurus synonym: "lymphoepithelial carcinoma" EXACT [] synonym: "Nasopharyngeal type Undifferentiated carcinoma" EXACT [] xref: NCI:C4107 xref: SNOMEDCT_US_2023_03_01:764938007 xref: UMLS_CUI:C0334254 is_a: DOID:305 ! carcinoma [Term] id: DOID:5662 name: pleomorphic carcinoma def: "A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma." [url:https\://pubmed.ncbi.nlm.nih.gov/35361152/] subset: NCIthesaurus xref: ICDO:8022/3 xref: NCI:C4094 xref: SNOMEDCT_US_2023_03_01:16741004 xref: UMLS_CUI:C0334233 is_a: DOID:4015 ! sarcomatoid carcinoma [Term] id: DOID:5663 name: obsolete helicobacter pylori-related carcinoma is_obsolete: true [Term] id: DOID:5665 name: external ear cancer def: "An ear cancer that is located_in the external ear." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C4652&key=943007722&b=1&n=null] subset: NCIthesaurus synonym: "malignant neoplasm of the External ear" EXACT [] synonym: "malignant tumor of external ear" EXACT [] xref: NCI:C4653 xref: SNOMEDCT_US_2023_03_01:277156006 xref: UMLS_CUI:C0349576 is_a: DOID:379 ! external ear disease is_a: DOID:5101 ! ear cancer [Term] id: DOID:5667 name: sweat gland carcinoma subset: NCIthesaurus synonym: "carcinoma of the Sweat gland" EXACT [] xref: NCI:C6938 xref: SNOMEDCT_US_2023_03_01:254708001 xref: UMLS_CUI:C1412016 is_a: DOID:2095 ! sweat gland cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:5670 name: comedo carcinoma def: "A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells." [url:http\://www.cancer.gov/dictionary/?CdrID=44330, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4188] subset: NCIthesaurus synonym: "Comedocarcinoma" EXACT [] xref: NCI:C4188 xref: SNOMEDCT_US_2023_03_01:36425007 xref: UMLS_CUI:C0334370 is_a: DOID:0060074 ! ductal carcinoma in situ [Term] id: DOID:5672 name: large intestine cancer alt_id: DOID:1994 alt_id: DOID:1997 def: "An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other." [url:http\://en.wikipedia.org/wiki/Large_intestine] subset: NCIthesaurus subset: TopNodes_DOcancerslim xref: ICD10CM:C18.9 xref: NCI:C4978 xref: SNOMEDCT_US_2023_03_01:93854002 xref: UMLS_CUI:C0346629 is_a: DOID:10155 ! intestinal cancer [Term] id: DOID:5675 name: cribriform carcinoma def: "A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells." [url:http\://surgpathcriteria.stanford.edu/breast/cribcabr/printable.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/24938660\,] subset: NCIthesaurus synonym: "ductal carcinoma, cribriform type" EXACT [] xref: ICDO:8201/3 xref: MESH:D000230 xref: NCI:C3680 xref: SNOMEDCT_US_2023_03_01:30156004 xref: UMLS_CUI:C0205643 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:5677 name: malignant extragonadal nonseminomatous germ cell tumor def: "An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen." [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Nongerminomatous, url:http\://rarediseases.info.nih.gov/gard/10165/nonseminomatous-germ-cell-tumor/resources/1] subset: DO_rare_slim subset: NCIthesaurus synonym: "primary malignant Extragonadal Nonseminoma" EXACT [] xref: NCI:C8885 xref: UMLS_CUI:C1334582 is_a: DOID:1319 ! brain cancer is_a: DOID:2994 ! germ cell cancer is_a: DOID:5559 ! mediastinal cancer [Term] id: DOID:5678 name: nerve fibre bundle defect synonym: "Retinal nerve fiber bundle defects" EXACT [] synonym: "Retinal nerve fiber bundle deficiency" EXACT [] xref: ICD9CM:362.85 xref: SNOMEDCT_US_2023_03_01:87194000 xref: UMLS_CUI:C0474334 is_a: DOID:1393 ! visual pathway disease is_a: DOID:5679 ! retinal disease [Term] id: DOID:5679 name: retinal disease def: "An eye disease that is located_in the retina." [url:http\://en.wikipedia.org/wiki/Retina#Diseases_and_disorders] subset: NCIthesaurus xref: ICD10CM:H35.9 xref: ICD9CM:362.9 xref: MESH:D012164 xref: NCI:C26875 xref: SNOMEDCT_US_2023_03_01:29555009 xref: UMLS_CUI:C0035309 is_a: DOID:5614 ! eye disease [Term] id: DOID:5680 name: embryonal testis carcinoma def: "An embryonal carcinoma that is located_in the testis." [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma] subset: NCIthesaurus synonym: "Embryonal carcinoma of testis" EXACT [] synonym: "embryonal carcinoma of the testis" RELATED [] synonym: "testicular embryonal carcinoma" EXACT [] xref: NCI:C6341 xref: UMLS_CUI:C0238448 is_a: DOID:2998 ! testicular cancer is_a: DOID:3308 ! embryonal carcinoma [Term] id: DOID:5681 name: ovarian embryonal carcinoma def: "An embryonal carcinoma that is located_in the ovary." [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma] subset: NCIthesaurus synonym: "Embryonal carcinoma of ovary" EXACT [] synonym: "Embryonal carcinoma of the Ovary" EXACT [] xref: NCI:C8108 xref: SNOMEDCT_US_2023_03_01:254872007 xref: UMLS_CUI:C0346183 is_a: DOID:2394 ! ovarian cancer is_a: DOID:3308 ! embryonal carcinoma [Term] id: DOID:5683 name: hereditary breast ovarian cancer syndrome def: "A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families." [url:http\://en.wikipedia.org/wiki/Hereditary_breast%E2%80%93ovarian_cancer_syndrome, url:http\://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1, url:https\://www.jax.org/education-and-learning/clinical-and-continuing-education/cancer-resources/hereditary-breast-and-ovarian-cancer-syndrome-factsheet, url:https\://www.ncbi.nlm.nih.gov/books/NBK1247/] comment: Xref MGI. subset: NCIthesaurus synonym: "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer" EXACT [] synonym: "Breast and Ovarian Cancer syndrome" EXACT [] synonym: "HBOC syndrome" EXACT [] synonym: "Hereditary breast and ovarian cancer" EXACT [] synonym: "Hereditary Breast and Ovarian Cancer syndrome" EXACT [] xref: MESH:D061325 xref: NCI:C8493 xref: SNOMEDCT_US_2023_03_01:718220008 xref: UMLS_CUI:C0677776 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:5684 name: spondyloepimetaphyseal dysplasia, Sponastrime type def: "A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance." [url:http\://omim.org/entry/271510, url:https\://www.ncbi.nlm.nih.gov/pubmed/10797420] subset: NCIthesaurus synonym: "sponastrime dysplasia" EXACT [] synonym: "Spondylar and nasal Alterations-Striated Metaphyses syndrome" EXACT [] xref: MIM:271510 xref: NCI:C92206 xref: UMLS_CUI:C0920349 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:5687 name: obsolete flat adenoma syndrome is_obsolete: true [Term] id: DOID:5688 name: Werner syndrome def: "A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8." [url:https\://en.wikipedia.org/wiki/Werner_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15946710, url:https\://www.ncbi.nlm.nih.gov/pubmed/9288107] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "adult premature ageing syndrome" EXACT [] synonym: "adult progeria" EXACT [] synonym: "Werner's syndrome" EXACT [] synonym: "WS" EXACT OMO:0003012 [] xref: GARD:7885 xref: MESH:D014898 xref: MIM:277700 xref: NCI:C3447 xref: ORDO:902 xref: SNOMEDCT_US_2023_03_01:51626007 xref: UMLS_CUI:C0043119 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081332 ! progeroid syndrome [Term] id: DOID:5690 name: well-differentiated liposarcoma def: "A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26645460] subset: DO_rare_slim subset: NCIthesaurus synonym: "atypical lipomatous tumor" EXACT [] xref: MESH:D008080 xref: NCI:C176979 xref: ORDO:99971 xref: SNOMEDCT_US_2023_03_01:28655007 xref: UMLS_CUI:C1370889 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:5691 name: visual cortex disease subset: NCIthesaurus synonym: "visual cortex dysfunction" EXACT [] xref: ICD10CM:H47.6 xref: ICD9CM:377.7 xref: NCI:C35275 xref: SNOMEDCT_US_2023_03_01:128329001 xref: UMLS_CUI:C0234398 is_a: DOID:1393 ! visual pathway disease [Term] id: DOID:5692 name: cellular myxoid liposarcoma subset: NCIthesaurus synonym: "Round cell liposarcoma" EXACT [] xref: NCI:C4252 xref: SNOMEDCT_US_2023_03_01:404070007 xref: UMLS_CUI:C0334471 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:5693 name: adult liposarcoma subset: NCIthesaurus xref: NCI:C7811 xref: UMLS_CUI:C0278608 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:5694 name: esophagus liposarcoma subset: NCIthesaurus synonym: "Liposarcoma of esophagus" EXACT [] synonym: "Liposarcoma of oesophagus" EXACT [] synonym: "oesophagus liposarcoma" EXACT [] xref: NCI:C5705 xref: UMLS_CUI:C1333456 is_a: DOID:3382 ! liposarcoma is_a: DOID:5041 ! esophageal cancer [Term] id: DOID:5695 name: childhood liposarcoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric liposarcoma" EXACT [] xref: NCI:C8091 xref: UMLS_CUI:C0279984 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:5696 name: larynx liposarcoma def: "A liposarcoma that is located_in the larynx." [url:http\://www.springerlink.com/content/k571r5t8637pg5p5/] subset: NCIthesaurus synonym: "Liposarcoma of Larynx" EXACT [] xref: NCI:C6021 xref: UMLS_CUI:C1334372 is_a: DOID:2596 ! larynx cancer is_a: DOID:3382 ! liposarcoma [Term] id: DOID:5697 name: liposarcoma of the ovary def: "An ovary sarcoma that arises from fatty tissue." [url:https\://pubmed.ncbi.nlm.nih.gov/32656967/] subset: NCIthesaurus synonym: "Liposarcoma of Ovary" EXACT [] xref: NCI:C6419 xref: UMLS_CUI:C1335165 is_a: DOID:1115 ! sarcoma is_a: DOID:2394 ! ovarian cancer is_a: DOID:3382 ! liposarcoma [Term] id: DOID:5698 name: fibroblastic liposarcoma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8857/3 xref: NCI:C6509 xref: SNOMEDCT_US_2023_03_01:128883006 xref: UMLS_CUI:C1266130 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:5699 name: kidney liposarcoma def: "A liposarcoma that is located_in the kidney." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15689251, url:https\://www.ncbi.nlm.nih.gov/pubmed/30050631] subset: NCIthesaurus synonym: "Liposarcoma of kidney" EXACT [] xref: NCI:C6185 xref: UMLS_CUI:C1335745 is_a: DOID:263 ! kidney cancer is_a: DOID:3382 ! liposarcoma [Term] id: DOID:57 name: aortic valve insufficiency alt_id: DOID:54 alt_id: DOID:55 def: "An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle." [url:http\://en.wikipedia.org/wiki/Aortic_insufficiency] subset: NCIthesaurus synonym: "aortic incompetence" EXACT [] synonym: "aortic insufficiency" EXACT [] synonym: "aortic regurgitation" EXACT [] synonym: "Corrigan's disease" RELATED [] synonym: "Rheumatic aortic insufficiency" EXACT [] synonym: "Rheumatic aortic regurgitation" EXACT [] synonym: "rheumatic aortic valve insufficiency" EXACT [] synonym: "Rheumatic aortic valve regurgitation" EXACT [] xref: ICD10CM:I06.1 xref: ICD9CM:395.1 xref: ICD9CM:396.3 xref: MESH:D001022 xref: NCI:C51223 xref: SNOMEDCT_US_2023_03_01:155283004 xref: SNOMEDCT_US_2023_03_01:194736003 xref: SNOMEDCT_US_2023_03_01:60234000 xref: UMLS_CUI:C0003504 xref: UMLS_CUI:C0155568 xref: UMLS_CUI:C0264774 is_a: DOID:62 ! aortic valve disease [Term] id: DOID:5700 name: gastric liposarcoma subset: NCIthesaurus synonym: "Liposarcoma of the stomach" EXACT [] xref: NCI:C5488 xref: UMLS_CUI:C1333778 is_a: DOID:10534 ! stomach cancer [Term] id: DOID:5701 name: breast liposarcoma def: "A breast sarcoma that arises from fat cells." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/liposarcoma] subset: NCIthesaurus synonym: "Liposarcoma of the breast" EXACT [] xref: NCI:C5187 xref: UMLS_CUI:C1332632 is_a: DOID:3017 ! breast sarcoma [Term] id: DOID:5702 name: pleomorphic liposarcoma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8854/3 xref: MESH:D008080 xref: NCI:C3705 xref: SNOMEDCT_US_2023_03_01:404071006 xref: UMLS_CUI:C0205825 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:5703 name: mixed liposarcoma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8855/3 xref: NCI:C4253 xref: SNOMEDCT_US_2023_03_01:11073003 xref: UMLS_CUI:C0334472 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:5704 name: sclerosing liposarcoma subset: NCIthesaurus xref: NCI:C6507 xref: SNOMEDCT_US_2023_03_01:28655007 xref: UMLS_CUI:C0334469 is_a: DOID:5690 ! well-differentiated liposarcoma [Term] id: DOID:5705 name: spindle cell liposarcoma subset: NCIthesaurus xref: NCI:C27489 xref: SNOMEDCT_US_2023_03_01:404073009 xref: UMLS_CUI:C1275275 is_a: DOID:5690 ! well-differentiated liposarcoma [Term] id: DOID:5707 name: obsolete liposarcoma nonmetastatic synonym: "Non-metastatic Liposarcoma" EXACT [] is_obsolete: true [Term] id: DOID:5708 name: obsolete liposarcoma metastatic is_obsolete: true [Term] id: DOID:5709 name: mixed-type liposarcoma subset: NCIthesaurus xref: NCI:C27781 xref: UMLS_CUI:C0545074 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:571 name: median neuropathy xref: ICD10CM:G56.10 xref: ICD9CM:354.1 xref: SNOMEDCT_US_2023_03_01:193127001 xref: UMLS_CUI:C0154742 is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex [Term] id: DOID:5710 name: obsolete liposarcoma recurrent synonym: "relapsed Liposarcoma" EXACT [] is_obsolete: true [Term] id: DOID:5711 name: vulvar liposarcoma def: "A vulvar sarcoma that has_material_basis_in adipocytes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25469348] subset: NCIthesaurus xref: NCI:C40321 is_a: DOID:1115 ! sarcoma is_a: DOID:1245 ! vulva cancer is_a: DOID:3382 ! liposarcoma [Term] id: DOID:5712 name: cutaneous liposarcoma subset: NCIthesaurus synonym: "Liposarcoma of the skin" EXACT [] xref: NCI:C5615 xref: UMLS_CUI:C1333175 is_a: DOID:2687 ! skin sarcoma [Term] id: DOID:5713 name: mediastinum liposarcoma def: "A liposarcoma that is located_in the mediastinum." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222671/] subset: NCIthesaurus synonym: "Liposarcoma of mediastinum" EXACT [] xref: NCI:C6614 xref: UMLS_CUI:C1334663 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:5714 name: intracranial liposarcoma subset: NCIthesaurus xref: NCI:C6973 xref: UMLS_CUI:C1334242 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:5715 name: functionless pituitary adenoma subset: NCIthesaurus synonym: "Non-Functioning neoplasm of the Pituitary" EXACT [] synonym: "Non-Secretory adenoma of the Pituitary gland" EXACT [] xref: NCI:C4348 xref: SNOMEDCT_US_2023_03_01:254962005 xref: UMLS_CUI:C0338078 is_a: DOID:3829 ! pituitary adenoma [Term] id: DOID:5716 name: hormone producing pituitary cancer alt_id: DOID:6254 synonym: "growth hormone producing pituitary tumor" EXACT [] synonym: "Pituitary tumors, Hormone Producing" EXACT [] synonym: "Somatotropinoma" EXACT [] xref: UMLS_CUI:C0278864 is_a: DOID:1785 ! pituitary cancer [Term] id: DOID:5717 name: obsolete recurrent pituitary tumor synonym: "relapsed tumor of Pituitary" EXACT [] is_obsolete: true [Term] id: DOID:5718 name: adrenal neuroblastoma def: "An adrenal gland cancer that derives_from immature neuroblastic cells." [url:http\://en.wikipedia.org/wiki/Adrenal_tumor#Neuroblastoma, url:http\://www.cancer.gov/cancertopics/types/neuroblastoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "neuroblastoma of Adrenal gland" EXACT [] xref: NCI:C4827 xref: SNOMEDCT_US_2023_03_01:281562007 xref: UMLS_CUI:C0559460 is_a: DOID:3953 ! adrenal gland cancer [Term] id: DOID:5719 name: adrenal medulla cancer alt_id: DOID:662 def: "An adrenal gland cancer that is located_in the adrenal medulla." [url:http\://en.wikipedia.org/wiki/Adrenal_tumor#Tumors_of_the_Adrenal_Medulla] subset: DO_rare_slim subset: NCIthesaurus synonym: "adrenal medulla neoplasm" EXACT [] synonym: "adrenal medulla tumor" EXACT [] synonym: "malignant neoplasm of adrenal medulla" EXACT [] synonym: "malignant tumor of the Adrenal Medulla" EXACT [] xref: GARD:5755 xref: ICD10CM:C74.1 xref: NCI:C4396 xref: NCI:C4856 xref: SNOMEDCT_US_2023_03_01:127023007 xref: SNOMEDCT_US_2023_03_01:93666006 xref: UMLS_CUI:C0344456 xref: UMLS_CUI:C0596046 is_a: DOID:3953 ! adrenal gland cancer [Term] id: DOID:572 name: mononeuritis of upper limb and mononeuritis multiplex xref: ICD9CM:354 xref: SNOMEDCT_US_2023_03_01:193125009 xref: UMLS_CUI:C0154741 is_a: DOID:1802 ! mononeuritis [Term] id: DOID:5720 name: obsolete neuroblastomas of the adrenal gland and sympathetic nervous system synonym: "Neuroblastomas of Adrenal gland and Sympathetic nervous system" EXACT [] is_obsolete: true [Term] id: DOID:5723 name: optic atrophy def: "An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve." [url:https\://eyewiki.aao.org/Optic_Atrophy] comment: Xref MGI. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "atrophy of optic disc" EXACT [] xref: ICD10CM:H47.2 xref: ICD9CM:377.1 xref: MESH:D009896 xref: MIM:PS165500 xref: NCI:C34863 xref: ORDO:98673 xref: SNOMEDCT_US_2023_03_01:155188004 xref: UMLS_CUI:C0029124 is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:5724 name: seminal vesicle cystadenoma def: "A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4996551/] subset: NCIthesaurus xref: NCI:C39907 xref: UMLS_CUI:C1519234 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:3855 ! seminal vesicle tumor [Term] id: DOID:5725 name: rete ovarii cystadenoma def: "A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2852648] subset: NCIthesaurus xref: NCI:C40019 xref: UMLS_CUI:C1514907 is_a: DOID:6837 ! rete ovarii adenoma [Term] id: DOID:5726 name: uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease def: "A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22296276] subset: NCIthesaurus xref: NCI:C40142 xref: UMLS_CUI:C3642324 is_a: DOID:0060095 ! uterine benign neoplasm [Term] id: DOID:5727 name: uterine ligament cancer def: "A uterine cancer that is located_in the ligaments that support the uterus." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931904/] subset: NCIthesaurus synonym: "tumor of the uterine Ligament" EXACT [] xref: NCI:C40133 xref: UMLS_CUI:C1519870 is_a: DOID:363 ! uterine cancer [Term] id: DOID:5728 name: diffuse peritoneal leiomyomatosis def: "A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23815223] subset: DO_rare_slim subset: NCIthesaurus synonym: "leiomyomatosis peritonealis disseminata" EXACT [] xref: GARD:12843 xref: NCI:C3958 xref: SNOMEDCT_US_2023_03_01:62557001 xref: UMLS_CUI:C0267785 is_a: DOID:0060117 ! peritoneal benign neoplasm is_a: DOID:127 ! leiomyoma [Term] id: DOID:5729 name: intravenous leiomyomatosis def: "A leiomyomatosis that is located within the blood vessels." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762011/] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10802 xref: NCI:C4518 xref: SNOMEDCT_US_2023_03_01:254883003 xref: UMLS_CUI:C0346200 is_a: DOID:178 ! vascular disease [Term] id: DOID:573 name: nerve compression syndrome alt_id: DOID:7318 subset: NCIthesaurus synonym: "Compression neuropathy" EXACT [] synonym: "entrapment neuropathy" EXACT [] synonym: "peripheral nerve entrapment syndrome" EXACT [] xref: MESH:D009408 xref: NCI:C27221 xref: SNOMEDCT_US_2023_03_01:45781009 xref: UMLS_CUI:C0027743 xref: UMLS_CUI:C1510429 is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:5730 name: salpingitis isthmica nodosa def: "A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation." [url:https\://en.wikipedia.org/wiki/Salpingitis_isthmica_nodosa] subset: NCIthesaurus xref: NCI:C40119 xref: SNOMEDCT_US_2023_03_01:36742000 xref: UMLS_CUI:C0269043 is_a: DOID:5731 ! chronic salpingitis [Term] id: DOID:5731 name: chronic salpingitis subset: NCIthesaurus xref: ICD10CM:N70.11 xref: NCI:C40118 xref: SNOMEDCT_US_2023_03_01:55551005 xref: UMLS_CUI:C0269041 is_a: DOID:5733 ! salpingitis [Term] id: DOID:5732 name: pyosalpinx subset: NCIthesaurus synonym: "Pyosalpingitis" EXACT [] xref: ICD10CM:N70 xref: NCI:C34968 xref: SNOMEDCT_US_2023_03_01:155974004 xref: UMLS_CUI:C0034220 is_a: DOID:5733 ! salpingitis [Term] id: DOID:5733 name: salpingitis def: "A fallopian tube disease that is characterized by inflammation of the fallopian tube." [url:https\://en.wikipedia.org/wiki/Salpingitis] subset: NCIthesaurus xref: ICD10CM:N70.91 xref: MESH:D012488 xref: NCI:C26880 xref: SNOMEDCT_US_2023_03_01:155968004 xref: UMLS_CUI:C0036130 is_a: DOID:1962 ! fallopian tube disease [Term] id: DOID:5738 name: obsolete secondary myelofibrosis is_obsolete: true [Term] id: DOID:574 name: peripheral nervous system disease alt_id: DOID:13069 def: "A nervous system disease that affects the peripheral nervous system." [url:http\://en.wikipedia.org/w/index.php?title=Peripheral_neuropathy&redirect=no] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: NCIthesaurus synonym: "peripheral nerve disease" RELATED [] synonym: "peripheral neuropathy" RELATED [] xref: NCI:C119734 xref: NCI:C27587 xref: UMLS_CUI:C0031117 xref: UMLS_CUI:C1335029 is_a: DOID:863 ! nervous system disease [Term] id: DOID:5740 name: small intestinal vasoactive intestinal peptide producing tumor subset: NCIthesaurus synonym: "small intestinal vasoactive intestinal peptide producing tumour" EXACT [] synonym: "small intestinal VIP Producing tumor" EXACT [] synonym: "small intestinal VIP Producing tumour" EXACT [] xref: NCI:C27455 xref: UMLS_CUI:C1336009 is_a: DOID:10154 ! small intestine cancer [Term] id: DOID:5741 name: pancreatic vasoactive intestinal peptide producing tumor subset: NCIthesaurus synonym: "pancreatic vasoactive intestinal peptide producing tumour" EXACT [] synonym: "pancreatic VIP Producing tumor" EXACT [] synonym: "pancreatic VIP Producing tumour" EXACT [] xref: NCI:C95599 xref: UMLS_CUI:C2033037 is_a: DOID:1799 ! islet cell tumor [Term] id: DOID:5742 name: pancreatic acinar cell adenocarcinoma def: "A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase." [url:http\://en.wikipedia.org/wiki/Acinar_cell_carcinoma_of_the_pancreas, url:http\://www.pathologyoutlines.com/topic/pancreasacinar.html] subset: DO_cancer_slim subset: NCIthesaurus synonym: "pancreatic acinar cell carcinoma" EXACT [] xref: NCI:C7977 xref: SNOMEDCT_US_2023_03_01:783771003 xref: UMLS_CUI:C0279661 is_a: DOID:4074 ! pancreatic adenocarcinoma [Term] id: DOID:5743 name: acinic cell breast carcinoma def: "A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148534/] subset: NCIthesaurus xref: NCI:C40367 xref: UMLS_CUI:C1515868 is_a: DOID:3458 ! breast adenocarcinoma [Term] id: DOID:5744 name: ovary serous adenocarcinoma alt_id: DOID:5745 def: "An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity)." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma, url:http\://en.wikipedia.org/wiki/Serous_carcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "malignant ovarian serous tumor" EXACT [] synonym: "serous carcinoma of Ovary" EXACT [] xref: NCI:C40025 xref: NCI:C7550 xref: UMLS_CUI:C1335177 xref: UMLS_CUI:C1518234 is_a: DOID:3713 ! ovary adenocarcinoma [Term] id: DOID:5746 name: ovarian serous cystadenocarcinoma def: "An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed." [url:http\://cancergenome.nih.gov/cancersselected/ovarian, url:http\://en.wikipedia.org/wiki/Serous_cystadenocarcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "serous cystadenoma" EXACT [] xref: NCI:C7978 xref: UMLS_CUI:C0279663 is_a: DOID:3605 ! ovarian cystadenocarcinoma [Term] id: DOID:5747 name: uterine ligament serous adenocarcinoma def: "A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions." [url:https\://journals.sagepub.com/doi/pdf/10.1177/1066896915622690] subset: NCIthesaurus xref: NCI:C40136 xref: UMLS_CUI:C1519872 is_a: DOID:3700 ! uterine ligament adenocarcinoma [Term] id: DOID:5748 name: rheumatic pulmonary valve disease synonym: "Rheumatic disease of pulmonary valve" EXACT [] synonym: "Rheumatic pulmonary incompetence" EXACT [] xref: ICD10CM:I09.89 xref: ICD9CM:397.1 xref: SNOMEDCT_US_2023_03_01:18687009 xref: UMLS_CUI:C0155579 is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:5749 ! pulmonary valve disease [Term] id: DOID:5749 name: pulmonary valve disease subset: NCIthesaurus synonym: "pulmonary valve disorder" EXACT [] xref: ICD9CM:424.3 xref: NCI:C78579 xref: SNOMEDCT_US_2023_03_01:76267008 xref: UMLS_CUI:C0034087 is_a: DOID:4079 ! heart valve disease [Term] id: DOID:5750 name: endometrial serous adenocarcinoma def: "A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia." [url:http\://en.wikipedia.org/wiki/Uterine_serous_carcinoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "uterine corpus serous adenocarcinoma" EXACT [] synonym: "uterine papillary serous carcinoma" EXACT [] synonym: "uterine serous carcinoma" EXACT [] xref: NCI:C27838 xref: UMLS_CUI:C0854924 is_a: DOID:9460 ! uterine corpus cancer [Term] id: DOID:5751 name: pancreatic serous cystadenocarcinoma def: "A serous cystadenocarcinoma that is located_in the pancreas." [url:https\://en.wikipedia.org/wiki/Pancreatic_serous_cystadenoma] subset: NCIthesaurus synonym: "serous cystadenocarcinoma of pancreas" EXACT [] xref: NCI:C5724 xref: SNOMEDCT_US_2023_03_01:690801000119108 xref: UMLS_CUI:C1335315 is_a: DOID:4073 ! pancreatic cystadenocarcinoma [Term] id: DOID:5752 name: cervical serous adenocarcinoma def: "A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25370301] subset: NCIthesaurus xref: NCI:C40201 xref: UMLS_CUI:C1516431 is_a: DOID:3702 ! cervical adenocarcinoma [Term] id: DOID:5757 name: endocervicitis def: "A cervicitis that is located_in the endocervix." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23134447, url:https\://www.ncbi.nlm.nih.gov/pubmed/29370498] subset: NCIthesaurus xref: NCI:C26762 xref: SNOMEDCT_US_2023_03_01:155980007 xref: UMLS_CUI:C0014127 is_a: DOID:2568 ! cervicitis [Term] id: DOID:5758 name: malignant mesenchymoma subset: DO_rare_slim subset: NCIthesaurus synonym: "Mesenchymoma, malignant" EXACT [] xref: GARD:3369 xref: MESH:C535700 xref: NCI:C4268 xref: SNOMEDCT_US_2023_03_01:89623007 xref: UMLS_CUI:C0334492 is_a: DOID:2668 ! mesenchymoma [Term] id: DOID:5759 name: sebaceous gland neoplasm subset: NCIthesaurus synonym: "Sebaceous neoplasm" EXACT [] xref: MESH:D012626 xref: NCI:C3363 xref: SNOMEDCT_US_2023_03_01:126491004 xref: UMLS_CUI:C0036503 is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:576 name: proteinuria def: "A kidney disease that is characterized by the presence of excess proteins in the urine." [url:https\://en.wikipedia.org/wiki/Proteinuria] subset: NCIthesaurus xref: ICD10CM:R80 xref: ICD9CM:791.0 xref: MESH:D011507 xref: NCI:C38012 xref: SNOMEDCT_US_2023_03_01:144515004 xref: UMLS_CUI:C0033687 is_a: DOID:557 ! kidney disease [Term] id: DOID:5760 name: sebaceous breast carcinoma def: "A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5323417/] subset: NCIthesaurus xref: NCI:C40369 xref: UMLS_CUI:C1519207 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:5761 name: vulvar sebaceous carcinoma def: "A vulva carcinoma that is characterized by the presence of sebaceous secretions." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10535578] subset: NCIthesaurus xref: NCI:C40309 xref: UMLS_CUI:C1520094 is_a: DOID:1294 ! vulva carcinoma [Term] id: DOID:5763 name: lung clear cell-sugar-tumor subset: NCIthesaurus xref: NCI:C38152 xref: UMLS_CUI:C1333065 is_a: DOID:3683 ! lung benign neoplasm [Term] id: DOID:5764 name: lung meningioma alt_id: DOID:6205 subset: NCIthesaurus synonym: "lung primary meningioma" EXACT [] synonym: "primary pulmonary meningioma" EXACT [] synonym: "pulmonary meningioma" EXACT [] xref: NCI:C5276 xref: NCI:C5668 xref: UMLS_CUI:C1334450 xref: UMLS_CUI:C1335488 is_a: DOID:1324 ! lung cancer is_a: DOID:3565 ! meningioma [Term] id: DOID:5765 name: obsolete primary ectopic meningioma is_obsolete: true [Term] id: DOID:5766 name: pulmonary sclerosing hemangioma subset: NCIthesaurus synonym: "Pneumocytoma" EXACT [] xref: MESH:D047868 xref: NCI:C5656 xref: SNOMEDCT_US_2023_03_01:707365008 xref: UMLS_CUI:C1334455 is_a: DOID:255 ! hemangioma is_a: DOID:3683 ! lung benign neoplasm [Term] id: DOID:5767 name: hilar lung neoplasm subset: NCIthesaurus synonym: "lung Hilum tumor" EXACT [] synonym: "neoplasm of hilus of lung" EXACT [] xref: NCI:C5671 xref: SNOMEDCT_US_2023_03_01:126707007 xref: UMLS_CUI:C1290358 is_a: DOID:3683 ! lung benign neoplasm [Term] id: DOID:5768 name: Nager acrofacial dysostosis def: "An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children." [url:http\://en.wikipedia.org/wiki/Nager_acrofacial_dysostosis, url:http\://ghr.nlm.nih.gov/condition/nager-syndrome, url:https\://www.faces-cranio.org/nager] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "acrofacial dysostosis 1, Nager type" EXACT [] synonym: "AFD" EXACT OMO:0003012 [] synonym: "Nager syndrome" EXACT [] synonym: "preaxial acrofacial dysostosis" EXACT [] synonym: "preaxial manibulofacial dysostosis" EXACT [] xref: GARD:498 xref: MIM:154400 xref: NCI:C35795 xref: UMLS_CUI:C1332140 is_a: DOID:0060379 ! acrofacial dysostosis [Term] id: DOID:5769 name: verruciform xanthoma of skin subset: NCIthesaurus synonym: "Cutaneous Verruciform Xanthoma" EXACT [] synonym: "Verruciform xanthoma" EXACT [] xref: NCI:C4478 xref: SNOMEDCT_US_2023_03_01:254756007 xref: UMLS_CUI:C0346054 is_a: DOID:3345 ! xanthomatosis is_a: DOID:37 ! skin disease [Term] id: DOID:5770 name: obsolete Mycobacterium avium-intracellulare lymphadenitis subset: gram-positive_bacterial_infectious_disease synonym: "MAI lymphadenitis" EXACT [] is_obsolete: true [Term] id: DOID:5771 name: obsolete Mycobacterium avium complex lymphadenitis subset: gram-positive_bacterial_infectious_disease synonym: "MAC lymphadenitis" EXACT [] is_obsolete: true [Term] id: DOID:5772 name: central nervous system hematologic cancer def: "A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system." [url:https\://www.merckmanuals.com/professional/ear\,-nose\,-and-throat-disorders/tumors-of-the-head-and-neck/jaw-tumors] subset: NCIthesaurus synonym: "CNS hematopoietic tumor" EXACT [] synonym: "hematopoietic neoplasm of central nervous system" RELATED [] xref: NCI:C5503 xref: UMLS_CUI:C1332882 is_a: DOID:2531 ! hematologic cancer is_a: DOID:3620 ! central nervous system cancer [Term] id: DOID:5773 name: oral submucous fibrosis alt_id: DOID:9679 def: "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues." [url:https\://en.wikipedia.org/wiki/Oral_submucous_fibrosis, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627879/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Oral cavity Submucous Fibrosis" EXACT [] synonym: "Oral submucosal fibrosis" EXACT [] synonym: "Oral submucosal fibrosis, including of tongue" EXACT [] xref: GARD:7264 xref: ICD10CM:K13.5 xref: ICD9CM:528.8 xref: MESH:D009914 xref: NCI:C34866 xref: SNOMEDCT_US_2023_03_01:32883009 xref: UMLS_CUI:C0029171 xref: UMLS_CUI:C0029172 is_a: DOID:403 ! mouth disease [Term] id: DOID:5774 name: giant hemangioma subset: NCIthesaurus xref: NCI:C27777 xref: UMLS_CUI:C1333817 is_a: DOID:483 ! cavernous hemangioma [Term] id: DOID:5775 name: cavernous hemangioma of colon subset: NCIthesaurus synonym: "Colonic Cavernous hemangioma" EXACT [] xref: NCI:C5395 xref: UMLS_CUI:C1333086 is_a: DOID:483 ! cavernous hemangioma is_a: DOID:5353 ! colonic disease [Term] id: DOID:5776 name: cavernous hemangioma of face subset: NCIthesaurus xref: NCI:C7053 xref: UMLS_CUI:C1332863 is_a: DOID:483 ! cavernous hemangioma [Term] id: DOID:5777 name: rectum neuroendocrine neoplasm subset: NCIthesaurus synonym: "neuroendocrine tumor of rectum" EXACT [] xref: NCI:C5698 xref: SNOMEDCT_US_2023_03_01:1186811008 xref: UMLS_CUI:C1335686 is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:1993 ! rectum cancer [Term] id: DOID:578 name: obsolete urination disorder synonym: "urination disorder" EXACT [] is_obsolete: true [Term] id: DOID:5781 name: atrophic flaccid tympanic membrane xref: ICD10CM:H73.81 xref: ICD9CM:384.81 xref: SNOMEDCT_US_2023_03_01:38645004 xref: UMLS_CUI:C0155470 is_a: DOID:5782 ! tympanic membrane disease [Term] id: DOID:5782 name: tympanic membrane disease xref: ICD10CM:H73.9 xref: ICD9CM:384.9 xref: SNOMEDCT_US_2023_03_01:21426000 xref: UMLS_CUI:C0041825 is_a: DOID:5100 ! middle ear disease [Term] id: DOID:5784 name: esophageal neuroendocrine tumor subset: NCIthesaurus synonym: "esophageal neuroendocrine tumour" EXACT [] synonym: "neuroendocrine tumor of esophagus" EXACT [] synonym: "neuroendocrine tumour of oesophagus" EXACT [] xref: NCI:C5821 xref: UMLS_CUI:C1333462 is_a: DOID:5041 ! esophageal cancer [Term] id: DOID:5785 name: obsolete recurrent hepatoblastoma synonym: "relapsed Hepatoblastoma" EXACT [] is_obsolete: true [Term] id: DOID:5786 name: obsolete recurrent childhood cancer of liver synonym: "relapsed pediatric cancer of the Liver" EXACT [] is_obsolete: true [Term] id: DOID:5789 name: mixed hepatoblastoma subset: NCIthesaurus synonym: "mixed epithelial and mesenchymal hepatoblastoma" EXACT [] xref: NCI:C7097 xref: SNOMEDCT_US_2023_03_01:734033006 xref: UMLS_CUI:C1334784 is_a: DOID:687 ! hepatoblastoma [Term] id: DOID:5790 name: obsolete resectable hepatoblastoma is_obsolete: true [Term] id: DOID:5792 name: obsolete hepatoblastoma with pure fetal epithelial differentiation is_obsolete: true [Term] id: DOID:5796 name: obsolete nonresectable hepatoblastoma synonym: "Non-Resectable Hepatoblastoma" EXACT [] is_obsolete: true [Term] id: DOID:5797 name: obsolete mixed hepatoblastoma with teratoid features is_obsolete: true [Term] id: DOID:5798 name: macrotrabecular hepatoblastoma subset: NCIthesaurus xref: NCI:C7095 xref: UMLS_CUI:C1334543 is_a: DOID:687 ! hepatoblastoma [Term] id: DOID:580 name: uric acid nephrolithiasis def: "A nephrolithiasis that is characterized by stones composed predominantly uric acid." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1831527/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4100778/] subset: NCIthesaurus synonym: "acute urate nephropathy" EXACT [] xref: ICD9CM:274.11 xref: MIM:605990 xref: NCI:C123245 xref: SNOMEDCT_US_2023_03_01:267441009 xref: UMLS_CUI:C0403719 is_a: DOID:585 ! nephrolithiasis [Term] id: DOID:5802 name: obsolete hepatoblastoma with combined fetal epithelial differentiation is_obsolete: true [Term] id: DOID:5804 name: discrete subaortic stenosis xref: MESH:D021922 xref: UMLS_CUI:C0012628 is_a: DOID:5805 ! subvalvular aortic stenosis [Term] id: DOID:5805 name: subvalvular aortic stenosis def: "An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26731888, url:https\://www.ncbi.nlm.nih.gov/pubmed/29377232] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5052 xref: MESH:D001020 xref: NCI:C85172 xref: SNOMEDCT_US_2023_03_01:250915007 xref: UMLS_CUI:C0340375 is_a: DOID:1712 ! aortic valve stenosis [Term] id: DOID:5806 name: stork bite synonym: "Salmon patch nevus" EXACT [] synonym: "Unna's nevus" EXACT [] xref: MIM:163100 is_a: DOID:2725 ! capillary hemangioma [Term] id: DOID:5809 name: childhood parosteal osteogenic sarcoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: NCI:C6589 xref: UMLS_CUI:C1332994 is_a: DOID:3373 ! parosteal osteosarcoma [Term] id: DOID:581 name: obsolete gouty nephropathy is_obsolete: true [Term] id: DOID:5810 name: adenosine deaminase deficiency def: "A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP." [url:http\://en.wikipedia.org/wiki/Severe_combined_immunodeficiency, url:https\://pubmed.ncbi.nlm.nih.gov/2166947/, url:https\://pubmed.ncbi.nlm.nih.gov/2783588/] subset: DO_rare_slim subset: NCIthesaurus synonym: "ADA" EXACT OMO:0003012 [] xref: GARD:5748 xref: ICD10CM:D81.30 xref: MIM:102700 xref: NCI:C3962 xref: SNOMEDCT_US_2023_03_01:190999009 xref: UMLS_CUI:C0268124 is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:5812 name: MHC class II deficiency def: "A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes." [url:https\://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii, url:https\://www.omim.org/entry/209920] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "bare lymphocyte syndrome type II" EXACT [] synonym: "BLSII" EXACT OMO:0003012 [] synonym: "SCID due to absent class II HLA antigens" EXACT [] xref: ICD10CM:D81.6 xref: MESH:D016511 xref: MIM:209920 xref: NCI:C3895 xref: SNOMEDCT_US_2023_03_01:71904008 xref: UMLS_CUI:C0242583 is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:5813 name: purine nucleoside phosphorylase deficiency def: "A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function." [url:http\://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency, url:https\://pubmed.ncbi.nlm.nih.gov/1384322/, url:https\://pubmed.ncbi.nlm.nih.gov/3029074/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "deficiency of inosine phosphorylase" EXACT [] synonym: "PNP deficiency" EXACT [] synonym: "Purine-Nucleoside Phosphorylase deficiency" EXACT [] xref: GARD:4606 xref: ICD10CM:D81.5 xref: MESH:C562587 xref: MIM:613179 xref: NCI:C176817 xref: ORDO:760 xref: SNOMEDCT_US_2023_03_01:60743005 xref: UMLS_CUI:C0268125 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:5815 name: cerebral lymphoma alt_id: DOID:5814 def: "A cerebrum cancer that affects the lymph cells and derives_from the brain." [url:http\://en.wikipedia.org/wiki/Primary_central_nervous_system_lymphoma, url:http\://www.cancer.gov/cancertopics/pdq/treatment/primary-CNS-lymphoma/Patient/page1, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000734.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/10563426] subset: NCIthesaurus synonym: "brain primary lymphoma" EXACT [] synonym: "primary cerebral lymphoma" EXACT [] synonym: "primary Lymphoma of Cerebrum" EXACT [] xref: NCI:C7611 xref: SNOMEDCT_US_2023_03_01:276836002 xref: UMLS_CUI:C0240803 is_a: DOID:0060058 ! lymphoma is_a: DOID:368 ! cerebrum cancer is_a: DOID:5772 ! central nervous system hematologic cancer [Term] id: DOID:5818 name: obsolete ALPS-associated lymphoma is_obsolete: true [Term] id: DOID:5819 name: obsolete localized lymphoma is_obsolete: true [Term] id: DOID:582 name: hemoglobinuria subset: NCIthesaurus xref: ICD10CM:R82.3 xref: ICD9CM:791.2 xref: MESH:D006456 xref: NCI:C34677 xref: SNOMEDCT_US_2023_03_01:68600005 xref: UMLS_CUI:C0019048 is_a: DOID:576 ! proteinuria [Term] id: DOID:5820 name: composite lymphoma def: "A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time." [url:http\://www.cancer.gov/dictionary/?CdrID=633086] subset: NCIthesaurus xref: MESH:D058617 xref: NCI:C38661 xref: SNOMEDCT_US_2023_03_01:1156403002 xref: UMLS_CUI:C0545080 is_a: DOID:707 ! B-cell lymphoma [Term] id: DOID:5821 name: methotrexate-associated lymphoproliferation xref: SNOMEDCT_US_2023_03_01:771073006 xref: UMLS_CUI:C1334749 is_a: DOID:0060058 ! lymphoma [Term] id: DOID:5822 name: gray zone lymphoma def: "A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas." [url:http\://en.wikipedia.org/wiki/Gray_zone_lymphoma] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10897 xref: NCI:C37869 xref: SNOMEDCT_US_2023_03_01:722954005 xref: UMLS_CUI:C1333878 is_a: DOID:0060058 ! lymphoma [Term] id: DOID:5823 name: childhood lymphoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric lymphoma" EXACT [] xref: NCI:C5165 xref: UMLS_CUI:C1332979 is_a: DOID:0060058 ! lymphoma [Term] id: DOID:5825 name: adult lymphoma subset: NCIthesaurus xref: NCI:C7587 xref: UMLS_CUI:C1332206 is_a: DOID:0060058 ! lymphoma [Term] id: DOID:5826 name: breast lymphoma def: "A breast cancer that arises_from lymphocytes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26380896] synonym: "lymphoma of breast" EXACT [] synonym: "Lymphoma of the breast" EXACT [] synonym: "malignant lymphoma of breast" EXACT [] xref: SNOMEDCT_US_2023_03_01:278052009 xref: UMLS_CUI:C0349669 is_a: DOID:0060058 ! lymphoma is_a: DOID:1612 ! breast cancer [Term] id: DOID:5828 name: endometrioid ovary carcinoma def: "An ovary adenocarcinoma that has_material_basis_in endometrial tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25120828] subset: DO_cancer_slim subset: NCIthesaurus synonym: "endometrioid carcinoma of ovary" RELATED [] synonym: "endometrioid carcinoma ovary" EXACT [] synonym: "Ovarian endometrioid carcinoma" EXACT [] xref: NCI:C7979 xref: SNOMEDCT_US_2023_03_01:254852002 xref: UMLS_CUI:C0346163 is_a: DOID:3713 ! ovary adenocarcinoma [Term] id: DOID:5829 name: uterine ligament endometrioid adenocarcinoma def: "A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin." [url:https\://journals.sagepub.com/doi/pdf/10.1177/1066896915622690] subset: NCIthesaurus xref: NCI:C40138 xref: UMLS_CUI:C5557430 is_a: DOID:3700 ! uterine ligament adenocarcinoma [Term] id: DOID:583 name: hemolytic anemia def: "A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made." [url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/hemolytic-anemia] comment: OMIM mapping confirmed by DO. [SN].\nOMIM mapping by NeuroDevNet. [LS]. subset: NCIthesaurus synonym: "ANEMIA HEMOLYTIC" EXACT [] xref: ICD10CM:D55-D59 xref: MESH:D000743 xref: MIM:266120 xref: MIM:612631 xref: NCI:C34376 xref: SNOMEDCT_US_2023_03_01:61261009 xref: UMLS_CUI:C0002878 is_a: DOID:720 ! normocytic anemia [Term] id: DOID:5830 name: cervical endometrioid adenocarcinoma def: "A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23722512] subset: NCIthesaurus synonym: "endometrioid carcinoma of the Cervix Uteri" EXACT [] xref: NCI:C6343 xref: UMLS_CUI:C1332913 is_a: DOID:3702 ! cervical adenocarcinoma [Term] id: DOID:5831 name: fallopian tube endometrioid adenocarcinoma alt_id: DOID:1972 def: "A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8946874] subset: NCIthesaurus synonym: "endometrioid carcinoma of the fallopian tube" EXACT [] synonym: "fallopian tube endometrioid cancer" EXACT [] synonym: "fallopian tube endometrioid neoplasm" RELATED [] xref: NCI:C40111 xref: NCI:C6279 xref: UMLS_CUI:C1333592 xref: UMLS_CUI:C1517113 is_a: DOID:3706 ! fallopian tube adenocarcinoma [Term] id: DOID:5832 name: obsolete metastatic endometrioid carcinoma is_obsolete: true [Term] id: DOID:5834 name: spermatocytoma subset: NCIthesaurus synonym: "spermatocytic seminoma" EXACT [] xref: NCI:C39921 xref: SNOMEDCT_US_2023_03_01:9294008 xref: UMLS_CUI:C0334517 is_a: DOID:2994 ! germ cell cancer is_a: DOID:2998 ! testicular cancer [Term] id: DOID:5838 name: extragonadal seminoma alt_id: DOID:6136 subset: NCIthesaurus synonym: "primary extragonadal seminoma" EXACT [] xref: NCI:C7327 xref: UMLS_CUI:C1333502 is_a: DOID:4440 ! seminoma [Term] id: DOID:5842 name: testis seminoma subset: NCIthesaurus synonym: "Seminoma of testis" EXACT [] synonym: "Seminoma testis" EXACT [] synonym: "testicular Seminoma Pure" EXACT [] xref: MESH:D018239 xref: NCI:C9309 xref: SNOMEDCT_US_2023_03_01:443675005 xref: UMLS_CUI:C0036631 is_a: DOID:2994 ! germ cell cancer is_a: DOID:2998 ! testicular cancer [Term] id: DOID:5843 name: posteroinferior myocardial infarction subset: NCIthesaurus xref: NCI:C36068 xref: UMLS_CUI:C3642318 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:5844 name: myocardial infarction def: "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia." [url:https\://en.wikipedia.org/wiki/Myocardial_infarction, url:https\://www.ncbi.nlm.nih.gov/pubmed/17951287] comment: Xref MGI. subset: NCIthesaurus synonym: "heart attack" EXACT [] synonym: "Myocardial infarct" EXACT [] xref: EFO:0000612 xref: ICD10CM:I21 xref: MESH:D009203 xref: MIM:608557 xref: NCI:C27996 xref: SNOMEDCT_US_2023_03_01:66514008 xref: UMLS_CUI:C0027051 is_a: DOID:3393 ! coronary artery disease [Term] id: DOID:5845 name: anterolateral myocardial infarction xref: MESH:D056988 xref: UMLS_CUI:C0262564 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:5846 name: septal myocardial infarction xref: UMLS_CUI:C0746727 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:5847 name: posterior myocardial infarction xref: SNOMEDCT_US_2023_03_01:194800006 xref: UMLS_CUI:C0340319 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:5848 name: apical myocardial infarction subset: NCIthesaurus xref: NCI:C36073 xref: UMLS_CUI:C3642319 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:5849 name: subendocardial myocardial infarction subset: NCIthesaurus xref: NCI:C35305 xref: UMLS_CUI:C3642476 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:585 name: nephrolithiasis def: "A kidney disease characterized by the formation of stoney concentrations in the kidneys." [url:https\://ghr.nlm.nih.gov/condition/kidney-stones, url:https\://medlineplus.gov/kidneystones.html, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518455/] comment: OMIM mapping confirmed by DO. [SN]. synonym: "kidney stones" EXACT [] synonym: "Stone - kidney/ureter" EXACT [] xref: EFO:0004253 xref: ICD10CM:N20 xref: ICD9CM:592 xref: SNOMEDCT_US_2023_03_01:155867005 xref: UMLS_CUI:C0156257 is_a: DOID:557 ! kidney disease property_value: exactMatch "MESH:D053040" xsd:string [Term] id: DOID:5850 name: inferior myocardial infarction xref: MESH:D056989 xref: SNOMEDCT_US_2023_03_01:194804002 xref: UMLS_CUI:C0340305 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:5851 name: posterolateral myocardial infarction subset: NCIthesaurus xref: NCI:C35672 xref: UMLS_CUI:C3642463 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:5852 name: inferolateral myocardial infarct subset: NCIthesaurus xref: NCI:C35673 xref: UMLS_CUI:C3537017 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:5853 name: lateral myocardial infarction xref: SNOMEDCT_US_2023_03_01:194801005 xref: UMLS_CUI:C0340312 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:5854 name: silent myocardial infarction subset: NCIthesaurus xref: NCI:C35400 xref: SNOMEDCT_US_2023_03_01:194796000 xref: UMLS_CUI:C0340324 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:5855 name: anteroseptal myocardial infarction xref: MESH:D056988 xref: UMLS_CUI:C0262565 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:5857 name: obsolete secondary chondrosarcoma is_obsolete: true [Term] id: DOID:5859 name: periosteal chondrosarcoma subset: DO_cancer_slim xref: ICDO:9221/3 is_a: DOID:3371 ! chondrosarcoma [Term] id: DOID:5861 name: myxoid chondrosarcoma subset: DO_cancer_slim xref: ICDO:9231/3 xref: SNOMEDCT_US_2023_03_01:75622000 xref: UMLS_CUI:C0334551 is_a: DOID:3371 ! chondrosarcoma [Term] id: DOID:5862 name: localized chondrosarcoma subset: NCIthesaurus xref: NCI:C8778 xref: UMLS_CUI:C0855011 is_a: DOID:3371 ! chondrosarcoma [Term] id: DOID:5863 name: obsolete recurrent chondrosarcoma synonym: "relapsed chondrosarcoma" EXACT [] is_obsolete: true [Term] id: DOID:5865 name: obsolete metastatic chondrosarcoma is_obsolete: true [Term] id: DOID:5866 name: juxtacortical chondrosarcoma subset: NCIthesaurus xref: NCI:C7357 xref: SNOMEDCT_US_2023_03_01:26211003 xref: UMLS_CUI:C0334549 is_a: DOID:3371 ! chondrosarcoma [Term] id: DOID:5867 name: clear cell chondrosarcoma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9242/3 xref: MESH:D000077207 xref: NCI:C6475 xref: SNOMEDCT_US_2023_03_01:128775007 xref: UMLS_CUI:C1266167 is_a: DOID:3371 ! chondrosarcoma [Term] id: DOID:587 name: obsolete tuberculous lung cavity def: "A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum." [url:http\://www.bmj.com/cgi/reprint/1/4177/115.pdf] subset: gram-positive_bacterial_infectious_disease synonym: "cavitary tuberculosis" EXACT [] synonym: "tuberculous cavity of lung" EXACT [] is_obsolete: true [Term] id: DOID:5870 name: eosinophilic pneumonia def: "A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night." [url:http\://en.wikipedia.org/wiki/Eosinophilic_pneumonia] subset: DO_rare_slim subset: NCIthesaurus synonym: "Pneumonia, eosinophilic" EXACT [] xref: GARD:107 xref: ICD10CM:J82.81 xref: MESH:D011657 xref: NCI:C35150 xref: SNOMEDCT_US_2023_03_01:196145005 xref: UMLS_CUI:C1527407 is_a: DOID:552 ! pneumonia [Term] id: DOID:5872 name: obsolete placental necrosis is_obsolete: true [Term] id: DOID:5874 name: retroperitoneal germ cell neoplasm subset: NCIthesaurus synonym: "germ cell tumor of Retroperitoneum" EXACT [] xref: NCI:C6447 xref: UMLS_CUI:C1335776 is_a: DOID:5875 ! retroperitoneal cancer [Term] id: DOID:5875 name: retroperitoneal cancer alt_id: DOID:12340 alt_id: DOID:9860 def: "A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum." [url:http\://en.wikipedia.org/wiki/Retroperitoneal_space] subset: DO_MGI_slim subset: NCIthesaurus synonym: "malignant neoplasm of retroperitoneum" RELATED [] synonym: "malignant neoplasm of retroperitoneum and peritoneum" EXACT [] synonym: "malignant retroperitoneal cancer" RELATED [] synonym: "malignant tumor of peritoneum and retroperitoneum" EXACT [] synonym: "neoplasm of retroperitoneum" EXACT [] synonym: "neoplasm of the retroperitoneum" EXACT [] synonym: "retroperitoneal neoplasm" EXACT [] synonym: "tumor of retroperitoneum" EXACT [] xref: ICD10CM:C48 xref: ICD10CM:C48.0 xref: ICD9CM:158 xref: ICD9CM:158.0 xref: MESH:D012186 xref: NCI:C3357 xref: NCI:C3537 xref: SNOMEDCT_US_2023_03_01:187801002 xref: SNOMEDCT_US_2023_03_01:254617008 xref: SNOMEDCT_US_2023_03_01:363420003 xref: UMLS_CUI:C0035358 xref: UMLS_CUI:C0153464 xref: UMLS_CUI:C0153465 is_a: DOID:5093 ! thoracic cancer [Term] id: DOID:5876 name: apocrine sweat gland neoplasm subset: NCIthesaurus synonym: "Apocrine tumor" EXACT [] xref: NCI:C6798 xref: UMLS_CUI:C1332318 is_a: DOID:2664 ! sweat gland benign neoplasm [Term] id: DOID:5877 name: endocardium cancer alt_id: DOID:14538 subset: NCIthesaurus synonym: "malignant Endocardial tumor" EXACT [] synonym: "malignant neoplasm of endocardium" EXACT [] synonym: "malignant tumor of endocardium" EXACT [] xref: NCI:C4570 xref: NCI:C5346 xref: SNOMEDCT_US_2023_03_01:126731002 xref: SNOMEDCT_US_2023_03_01:363436001 xref: UMLS_CUI:C0346612 xref: UMLS_CUI:C1290401 is_a: DOID:0050825 ! endocardium disease is_a: DOID:117 ! heart cancer [Term] id: DOID:5884 name: benign intermediate mesothelioma subset: NCIthesaurus synonym: "Well-differentiated Papillary tumor of Mesothelium" EXACT [] xref: NCI:C7635 xref: SNOMEDCT_US_2023_03_01:734100004 xref: UMLS_CUI:C1337012 is_a: DOID:2645 ! benign mesothelioma [Term] id: DOID:5886 name: obsolete mixed embryonal carcinoma and teratoma with seminoma of the testis synonym: "mixed Embryonal carcinoma and teratoma with Seminoma of testis" EXACT [] is_obsolete: true [Term] id: DOID:5888 name: obsolete congenital cystic kidney disease is_obsolete: true [Term] id: DOID:5889 name: anaplastic ependymoma subset: DO_cancer_slim synonym: "Ependymoma, anaplastic" EXACT [] synonym: "Undifferentiated Ependymoma" EXACT [] xref: ICDO:9392/3 is_a: DOID:5074 ! high grade ependymoma [Term] id: DOID:589 name: congenital hemolytic anemia subset: DO_rare_slim subset: NCIthesaurus synonym: "congenital hemolytic anaemia" EXACT [] synonym: "hereditary hemolytic anaemia" EXACT [] synonym: "hereditary hemolytic anemia" EXACT [] xref: GARD:6167 xref: ICD10CM:D58.9 xref: ICD9CM:282 xref: MESH:D000745 xref: NCI:C34379 xref: SNOMEDCT_US_2023_03_01:42601008 xref: UMLS_CUI:C0002881 is_a: DOID:0080015 ! physical disorder is_a: DOID:583 ! hemolytic anemia [Term] id: DOID:5890 name: malignant adult ependymoma subset: NCIthesaurus xref: NCI:C8269 xref: UMLS_CUI:C0280787 is_a: DOID:5074 ! high grade ependymoma [Term] id: DOID:5893 name: childhood malignant mesenchymoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: NCI:C8097 xref: UMLS_CUI:C0279991 is_a: DOID:5758 ! malignant mesenchymoma [Term] id: DOID:5894 name: adult malignant mesenchymoma subset: NCIthesaurus xref: NCI:C7947 xref: UMLS_CUI:C0279548 is_a: DOID:5758 ! malignant mesenchymoma [Term] id: DOID:5895 name: clear cell cystadenofibroma def: "A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm." [url:https\://www.ncbi.nlm.nih.gov/pubmed/514560] subset: NCIthesaurus xref: NCI:C8988 xref: SNOMEDCT_US_2023_03_01:58161009 xref: UMLS_CUI:C1377853 is_a: DOID:5482 ! cystadenofibroma [Term] id: DOID:5896 name: ovarian clear cell cystadenofibroma def: "An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6692303] subset: NCIthesaurus xref: NCI:C40086 xref: UMLS_CUI:C1518695 is_a: DOID:5897 ! ovarian clear cell adenofibroma [Term] id: DOID:5897 name: ovarian clear cell adenofibroma def: "An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28861185] subset: NCIthesaurus xref: NCI:C40085 xref: UMLS_CUI:C1518694 is_a: DOID:0060112 ! ovarian benign neoplasm [Term] id: DOID:5900 name: meningeal melanocytoma def: "A central nervous system benign neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges." [url:https\://radiopaedia.org/articles/meningeal-melanocytosis?lang=us] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Leptomeningeal melanocytoma" EXACT [] synonym: "melanocytoma of meninges" EXACT [] xref: ICDO:8728/1 xref: NCI:C4662 xref: ORDO:252046 xref: SNOMEDCT_US_2023_03_01:128730009 xref: UMLS_CUI:C1266113 is_a: DOID:0060090 ! central nervous system benign neoplasm [Term] id: DOID:5907 name: penis non-invasive verrucous carcinoma subset: NCIthesaurus synonym: "Non-Invasive Penile verrucous carcinoma" EXACT [] xref: NCI:C27791 xref: UMLS_CUI:C1334984 is_a: DOID:5908 ! penis verrucous carcinoma [Term] id: DOID:5908 name: penis verrucous carcinoma subset: NCIthesaurus synonym: "verrucous squamous carcinoma of penis" EXACT [] xref: NCI:C6982 xref: UMLS_CUI:C1336955 is_a: DOID:5518 ! penis squamous cell carcinoma [Term] id: DOID:591 name: phobic disorder def: "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation." [url:http\://en.wikipedia.org/wiki/Anxiety_disorder] subset: NCIthesaurus xref: ICD10CM:F40 xref: ICD9CM:300.20 xref: MESH:D010698 xref: NCI:C35420 xref: SNOMEDCT_US_2023_03_01:52039009 xref: UMLS_CUI:C0349231 is_a: DOID:2030 ! anxiety disorder [Term] id: DOID:5913 name: brachial plexus neoplasm subset: NCIthesaurus synonym: "tumor of the Brachial Plexus" EXACT [] xref: NCI:C5823 xref: UMLS_CUI:C1332602 is_a: DOID:4693 ! nerve plexus neoplasm [Term] id: DOID:5914 name: diffuse sclerosing papillary thyroid carcinoma def: "A papillary thyroid carcinoma that is characterized by diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration." [url:https\://pubmed.ncbi.nlm.nih.gov/36546348/, url:https\://pubmed.ncbi.nlm.nih.gov/36995892/] subset: NCIthesaurus synonym: "Diffuse sclerosing papillary thyroid cancer (DSPTC)" EXACT [] synonym: "diffuse sclerosing PTC" EXACT [] synonym: "Diffuse Sclerosing Variant Thyroid Gland Papillary Carcinoma" EXACT [] synonym: "nonencapsulated sclerosing carcinoma" EXACT [] synonym: "Nonencapsulated Sclerosing neoplasm" EXACT [] synonym: "Papillary carcinoma, diffuse sclerosing" EXACT [] xref: ICDO:8350/3 xref: NCI:C7427 xref: SNOMEDCT_US_2023_03_01:62681000 xref: UMLS_CUI:C0334330 is_a: DOID:3969 ! papillary thyroid carcinoma [Term] id: DOID:5915 name: uterus intravascular leiomyomatosis def: "An uterine corpus leiomyomatosis that is located_in the blood vessels." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8950762] synonym: "Intravascular leiomyomatosis of Uterus" EXACT [] is_a: DOID:5916 ! uterine corpus leiomyomatosis [Term] id: DOID:5916 name: uterine corpus leiomyomatosis def: "An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23383444, url:https\://www.uptodate.com/contents/variants-of-uterine-leiomyomas-fibroids] subset: NCIthesaurus xref: NCI:C40170 xref: UMLS_CUI:C1519855 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:127 ! leiomyoma [Term] id: DOID:5917 name: uterine corpus diffuse leiomyomatosis def: "An uterine corpus leiomyomatosis that is located throughout the uterine corpus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18754301] is_a: DOID:5916 ! uterine corpus leiomyomatosis [Term] id: DOID:5918 name: obsolete localized unresectable adult primary liver cancer synonym: "localized Unresectable adult Liver carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:5919 name: obsolete localized unresectable adult primary hepatoma is_obsolete: true [Term] id: DOID:5920 name: obsolete malignant fibrous histiocytoma metastatic is_obsolete: true [Term] id: DOID:5921 name: adult brainstem mixed glioma subset: NCIthesaurus synonym: "adult brain stem mixed glioma" EXACT [] xref: NCI:C9371 xref: UMLS_CUI:C1377915 is_a: DOID:4813 ! adult brain stem glioma [Term] id: DOID:5922 name: adult brainstem astrocytoma subset: NCIthesaurus xref: NCI:C6954 xref: UMLS_CUI:C1332191 is_a: DOID:4813 ! adult brain stem glioma [Term] id: DOID:5923 name: distal biliary tract carcinoma subset: NCIthesaurus synonym: "carcinoma of the Distal biliary tract" EXACT [] xref: NCI:C7109 xref: UMLS_CUI:C1333308 is_a: DOID:4897 ! bile duct carcinoma [Term] id: DOID:5924 name: obsolete recurrent extrahepatic bile duct cancer synonym: "recurrent extrahepatic bile duct carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:5926 name: extrahepatic bile duct small cell adenocarcinoma subset: NCIthesaurus synonym: "Oat cell extrahepatic bile duct carcinoma" EXACT [] xref: NCI:C5845 xref: UMLS_CUI:C1335979 is_a: DOID:3495 ! extrahepatic bile duct adenocarcinoma [Term] id: DOID:5928 name: obsolete autosomal recessive polycystic kidney synonym: "Autosomal Recessive Polycystic kidney disease" EXACT [] synonym: "Polycystic kidney disease, infantile type (disorder)" EXACT [] synonym: "Polycystic kidney, autosomal recessive" EXACT [] is_obsolete: true [Term] id: DOID:593 name: agoraphobia def: "A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable." [url:http\://en.wikipedia.org/wiki/Anxiety_disorder] subset: NCIthesaurus synonym: "Fear of open spaces" EXACT [] xref: ICD10CM:F40.0 xref: MESH:D000379 xref: NCI:C34362 xref: SNOMEDCT_US_2023_03_01:154885006 xref: UMLS_CUI:C0001818 is_a: DOID:591 ! phobic disorder [Term] id: DOID:5931 name: obsolete unresectable extrahepatic bile duct cancer synonym: "Unresectable extrahepatic bile duct carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:5933 name: obsolete resectable bile duct cancer synonym: "Resectable bile duct cancer" EXACT [] is_obsolete: true [Term] id: DOID:5934 name: obsolete localized extrahepatic bile duct cancer synonym: "localized extrahepatic bile duct carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:5936 name: ovarian mixed germ cell neoplasm def: "An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25366470] subset: NCIthesaurus synonym: "mixed germ cell tumor of Ovary" EXACT [] xref: NCI:C8114 xref: UMLS_CUI:C0280135 is_a: DOID:5351 ! ovarian primitive germ cell tumor [Term] id: DOID:5937 name: obsolete autosomal dominant polycystic kidney synonym: "Polycystic kidney disease, adult type (disorder)" EXACT [] synonym: "Polycystic kidney, autosomal dominant" EXACT [] is_obsolete: true [Term] id: DOID:594 name: panic disorder def: "An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress." [url:http\://www.nimh.nih.gov/health/topics/panic-disorder/index.shtml] comment: Xref MGI. subset: NCIthesaurus synonym: "panic anxiety syndrome" EXACT [] xref: EFO:0004262 xref: ICD10CM:F41.0 xref: MESH:D016584 xref: MIM:167870 xref: MIM:607853 xref: MIM:609985 xref: NCI:C34890 xref: SNOMEDCT_US_2023_03_01:191705007 xref: UMLS_CUI:C0030319 is_a: DOID:2030 ! anxiety disorder [Term] id: DOID:5940 name: malignant peripheral nerve sheath tumor subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "malignant neoplasm of the peripheral nerve Sheath" EXACT [] xref: GARD:10872 xref: ICDO:9540/3 xref: MESH:D018319 xref: NCI:C3798 xref: SNOMEDCT_US_2023_03_01:134324009 xref: UMLS_CUI:C0751690 is_a: DOID:3193 ! peripheral nerve sheath neoplasm [Term] id: DOID:5941 name: obsolete lung carcinoma metastatic to the brain is_obsolete: true [Term] id: DOID:5948 name: angiokeratoma of mibelli subset: NCIthesaurus xref: NCI:C3927 xref: SNOMEDCT_US_2023_03_01:62727008 xref: UMLS_CUI:C0263640 is_a: DOID:479 ! angiokeratoma [Term] id: DOID:5949 name: angiokeratoma circumscriptum subset: NCIthesaurus xref: NCI:C7751 xref: SNOMEDCT_US_2023_03_01:21848000 xref: UMLS_CUI:C0263638 is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:5957 name: bladder urachal squamous cell carcinoma subset: NCIthesaurus xref: NCI:C39845 xref: UMLS_CUI:C1511206 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:5958 ! bladder urachal carcinoma [Term] id: DOID:5958 name: bladder urachal carcinoma subset: NCIthesaurus synonym: "urachal cancer" EXACT [] xref: MESH:C536475 xref: NCI:C39842 xref: UMLS_CUI:C2931202 is_a: DOID:11817 ! urachus cancer is_a: DOID:4007 ! bladder carcinoma [Term] id: DOID:5963 name: obsolete schistosoma hematobium-related bladder squamous cell carcinoma is_obsolete: true [Term] id: DOID:5973 name: kidney pelvis papillary carcinoma def: "A papillary carcinoma that is located_in the kidney pelvis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/13056223] subset: NCIthesaurus synonym: "Papillary carcinoma of renal Pelvis" EXACT [] xref: NCI:C6148 xref: UMLS_CUI:C1377909 is_a: DOID:5974 ! renal pelvis transitional cell carcinoma [Term] id: DOID:5974 name: renal pelvis transitional cell carcinoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Urothelial cell carcinoma of renal Pelvis" EXACT [] xref: NCI:C7355 is_a: DOID:2671 ! transitional cell carcinoma is_a: DOID:4919 ! renal pelvis carcinoma [Term] id: DOID:5975 name: renal pelvis papillary tumor subset: NCIthesaurus synonym: "Papillary neoplasm of renal Pelvis" EXACT [] xref: NCI:C8603 xref: UMLS_CUI:C0853688 is_a: DOID:5977 ! renal pelvis benign neoplasm [Term] id: DOID:5976 name: occlusion precerebral artery alt_id: DOID:10961 alt_id: DOID:1547 synonym: "Occlusion and stenosis of multiple and bilateral precerebral arteries" RELATED [] synonym: "occlusion and stenosis of precerebral artery" RELATED [] xref: ICD10CM:I65.9 xref: ICD9CM:433.9 xref: UMLS_CUI:C0155727 is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:5977 name: renal pelvis benign neoplasm subset: NCIthesaurus synonym: "neoplasm of renal pelvis" EXACT [] synonym: "tumor of kidney Pelvis" EXACT [] synonym: "tumor of renal pelvis" EXACT [] xref: NCI:C8404 xref: SNOMEDCT_US_2023_03_01:126881002 xref: UMLS_CUI:C0346260 is_a: DOID:3116 ! kidney benign neoplasm [Term] id: DOID:5979 name: obsolete human papilloma virus related vulvar squamous cell carcinoma alt_id: DOID:5978 def: "A human papillomavirus related squamous cell carcinoma that results_in infection located_in vulva, has_material_basis_in human papillomavirus (type16 and 18), which cause malignant tumors in squamous epithelium of the vulva." [url:http\://cebp.aacrjournals.org/content/18/7/2061.abstract, url:http\://emedicine.medscape.com/article/219110-overview] synonym: "HPV-Related Vulvar squamous cell carcinoma" EXACT [] synonym: "vulvar condylomatous carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:5980 name: obsolete hemispheric anaplastic astrocytoma synonym: "Undifferentiated Hemispheric astrocytoma" EXACT [] is_obsolete: true [Term] id: DOID:5981 name: obsolete hamartoma of hypothalamus synonym: "hamartoma of hypothalamus (disorder)" EXACT [] synonym: "Hypothalamic hamartoma" EXACT [] is_obsolete: true [Term] id: DOID:5982 name: kidney fibrosarcoma subset: NCIthesaurus synonym: "Fibrosarcoma of the kidney" EXACT [] xref: NCI:C7726 xref: UMLS_CUI:C0238208 is_a: DOID:4242 ! kidney sarcoma [Term] id: DOID:5983 name: kidney osteogenic sarcoma def: "A kidney sarcoma that starts in the bones and that is located in the kidney." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1768219] subset: NCIthesaurus synonym: "renal Osteogenic sarcoma" EXACT [] xref: NCI:C6181 xref: UMLS_CUI:C1335747 is_a: DOID:4242 ! kidney sarcoma [Term] id: DOID:5989 name: obsolete clear cell myomelanocytic tumor of the Falciform Ligament/Ligamentum Teres is_obsolete: true [Term] id: DOID:599 name: specific phobia def: "A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations." [url:http\://en.wikipedia.org/wiki/Specific_phobia] subset: NCIthesaurus synonym: "simple phobia" EXACT [] xref: ICD10CM:F40.2 xref: MESH:C562465 xref: MIM:608251 xref: NCI:C35284 xref: SNOMEDCT_US_2023_03_01:54587008 xref: UMLS_CUI:C0236801 is_a: DOID:591 ! phobic disorder [Term] id: DOID:5990 name: internal auditory canal meningioma subset: NCIthesaurus synonym: "meningioma of the Internal Auditory canal" EXACT [] xref: NCI:C5307 xref: UMLS_CUI:C1334227 is_a: DOID:5102 ! inner ear cancer [Term] id: DOID:5991 name: obsolete early onset breast ovarian cancer syndrome is_obsolete: true [Term] id: DOID:5996 name: obsolete blunt duct adenosis of breast is_obsolete: true [Term] id: DOID:5997 name: non-proliferative fibrocystic change of the breast def: "A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27483712] subset: NCIthesaurus synonym: "Non-Proliferative Fibrocystic Change" EXACT [] xref: NCI:C6943 xref: UMLS_CUI:C1332628 is_a: DOID:10354 ! breast fibrocystic disease [Term] id: DOID:5998 name: microglandular adenosis def: "A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148517/] subset: NCIthesaurus synonym: "Adenosis - breast" EXACT [] synonym: "Adenosis of the breast" EXACT [] xref: MESH:D005348 xref: NCI:C3484 xref: SNOMEDCT_US_2023_03_01:270893004 xref: UMLS_CUI:C0085750 is_a: DOID:3463 ! breast disease [Term] id: DOID:5999 name: apocrine adenosis of breast def: "A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20123450] subset: NCIthesaurus synonym: "Apocrine Adenosis of the breast" EXACT [] xref: NCI:C5198 xref: UMLS_CUI:C1332314 is_a: DOID:5997 ! non-proliferative fibrocystic change of the breast [Term] id: DOID:600 name: animal phobia def: "A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all." [url:http\://hubpages.com/hub/list-of-animal-phobias] subset: NCIthesaurus synonym: "Fear of animals" EXACT [] synonym: "Zoophobia" EXACT [] xref: MESH:C000719220 xref: NCI:C35273 xref: SNOMEDCT_US_2023_03_01:54307006 xref: UMLS_CUI:C0233711 is_a: DOID:599 ! specific phobia [Term] id: DOID:6000 name: congestive heart failure alt_id: DOID:395 def: "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body." [url:http\://en.wikipedia.org/wiki/Heart_disease] subset: NCIthesaurus synonym: "Cardiac Failure Congestive" EXACT [] synonym: "CHF" EXACT OMO:0003012 [] synonym: "Congestive heart disease" EXACT [] synonym: "Weak heart" EXACT [] xref: ICD10CM:I50 xref: ICD10CM:I50.9 xref: ICD9CM:428 xref: ICD9CM:428.0 xref: MESH:D006333 xref: NCI:C3080 xref: NCI:C50577 xref: SNOMEDCT_US_2023_03_01:155374007 xref: SNOMEDCT_US_2023_03_01:195108009 xref: UMLS_CUI:C0018801 xref: UMLS_CUI:C0018802 is_a: DOID:114 ! heart disease [Term] id: DOID:60000 name: appendix disease def: "A gastrointestinal system disease that is located_in the appendix." [url:https\://en.wikipedia.org/wiki/Appendix, url:https\://www.ncbi.nlm.nih.gov/pubmed/15807474] is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:60001 name: pulmonary artery disease def: "An artery disease that is located in the lungs." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23737196] is_a: DOID:0050828 ! artery disease is_a: DOID:850 ! lung disease [Term] id: DOID:60002 name: Bartholin's gland disease def: "A female reproductive system disease that is located in Bartholin's gland." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26195958] is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:60003 name: Bartholin's gland cancer def: "A vulva cancer that is located in Bartholin's gland." [url:https\://en.wikipedia.org/wiki/Bartholin_gland_carcinoma] is_a: DOID:1245 ! vulva cancer is_a: DOID:60002 ! Bartholin's gland disease [Term] id: DOID:60004 name: malignant cystadenoma is_a: DOID:0080364 ! malignant adenoma [Term] id: DOID:60006 name: benign vascular tumor is_a: DOID:0060091 ! cardiovascular organ benign neoplasm [Term] id: DOID:60007 name: cerebrovascular benign neoplasm def: "A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system." [url:https\://en.wikipedia.org/wiki/Cerebral_circulation, url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/benign-vascular-tumor] is_a: DOID:0060091 ! cardiovascular organ benign neoplasm [Term] id: DOID:60008 name: parathyroid gland benign neoplasm def: "An endocrine organ benign neoplasm that is located_in some parathyroid gland." [url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/parathyroid-tumor] is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:11201 ! parathyroid gland disease [Term] id: DOID:60009 name: pituitary gland benign neoplasm def: "A benign neoplasm located in the pituitary gland." [url:https\://www.mayoclinic.org/diseases-conditions/pituitary-tumors/symptoms-causes/syc-20350548] is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:53 ! pituitary gland disease [Term] id: DOID:6001 name: breast fibrosarcoma def: "A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern." [url:https\://en.wikipedia.org/wiki/Fibrosarcoma] subset: NCIthesaurus synonym: "Fibrosarcoma of the breast" EXACT [] xref: NCI:C5185 xref: UMLS_CUI:C1332630 is_a: DOID:3017 ! breast sarcoma [Term] id: DOID:6003 name: aleukemic leukemia cutis def: "An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4983] subset: NCIthesaurus xref: NCI:C4983 xref: UMLS_CUI:C0887846 is_a: DOID:6004 ! aleukemic leukemia [Term] id: DOID:6004 name: aleukemic leukemia def: "A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood." [url:http\://www.merriam-webster.com/medical/aleukemic%20leukemia, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4982] subset: NCIthesaurus synonym: "aleukemic myelosis" RELATED [] xref: NCI:C4982 xref: SNOMEDCT_US_2023_03_01:154602005 xref: UMLS_CUI:C0877858 is_a: DOID:1240 ! leukemia [Term] id: DOID:6013 name: obsolete mediastinum embryonal carcinoma synonym: "Embryonal carcinoma of mediastinum" EXACT [] synonym: "embryonal carcinoma of the mediastinum" RELATED [] is_obsolete: true [Term] id: DOID:6014 name: obsolete mediastinal germ cell cancer alt_id: DOID:5558 synonym: "germ cell tumor of mediastinum" EXACT [] synonym: "malignant germ cell tumor of mediastinum" EXACT [] synonym: "mediastinal germ cell neoplasm" EXACT [] is_obsolete: true [Term] id: DOID:6015 name: adult central nervous system teratoma subset: NCIthesaurus synonym: "teratoma of the adult central nervous system" EXACT [] xref: NCI:C5794 xref: UMLS_CUI:C1370506 is_a: DOID:3640 ! central nervous system teratoma [Term] id: DOID:6016 name: adult central nervous system mature teratoma subset: NCIthesaurus xref: NCI:C27400 xref: UMLS_CUI:C1332194 is_a: DOID:6015 ! adult central nervous system teratoma is_a: DOID:6017 ! central nervous system mature teratoma [Term] id: DOID:6017 name: central nervous system mature teratoma def: "A mature teratoma that is located_in the central nervous system." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21150046] subset: NCIthesaurus synonym: "Mature teratoma of the CNS" EXACT [] xref: NCI:C7013 xref: UMLS_CUI:C1332886 is_a: DOID:3640 ! central nervous system teratoma [Term] id: DOID:6018 name: adult central nervous system immature teratoma subset: NCIthesaurus xref: NCI:C27401 xref: UMLS_CUI:C1332193 is_a: DOID:6015 ! adult central nervous system teratoma is_a: DOID:6019 ! central nervous system immature teratoma [Term] id: DOID:6019 name: central nervous system immature teratoma def: "A malignant teratoma that is located_in the central nervous system." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21150046] subset: NCIthesaurus synonym: "Immature teratoma of the CNS" EXACT [] xref: NCI:C7014 xref: UMLS_CUI:C1332883 is_a: DOID:3640 ! central nervous system teratoma [Term] id: DOID:602 name: cancerophobia subset: NCIthesaurus synonym: "cancer phobia" EXACT [] synonym: "Fear of getting cancer" EXACT [] xref: NCI:C35492 xref: SNOMEDCT_US_2023_03_01:34563004 xref: UMLS_CUI:C0233705 is_a: DOID:0060048 ! nosophobia [Term] id: DOID:6020 name: obsolete metastatic MPNST is_obsolete: true [Term] id: DOID:6021 name: obsolete malignant testicular Leydig cell tumor is_obsolete: true [Term] id: DOID:6022 name: obsolete central nervous system melanoma synonym: "melanoma of the CNS" EXACT [] is_obsolete: true [Term] id: DOID:6023 name: obsolete metastasis to the parathyroid gland synonym: "metastatic tumor to the Parathyroid" EXACT [] is_obsolete: true [Term] id: DOID:6024 name: selective IgE deficiency disease def: "A dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24717782, url:https\://www.ncbi.nlm.nih.gov/pubmed/28778662] subset: NCIthesaurus synonym: "Selective IgE Immunodeficiency" EXACT [] synonym: "Selective immunoglobulin E deficiency" EXACT [] xref: NCI:C27143 xref: SNOMEDCT_US_2023_03_01:234540007 xref: UMLS_CUI:C0398694 is_a: DOID:11702 ! dysgammaglobulinemia [Term] id: DOID:6025 name: selective immunoglobulin deficiency disease def: "A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27870, url:https\://www.ncbi.nlm.nih.gov/books/NBK507905/] subset: NCIthesaurus xref: NCI:C27870 xref: UMLS_CUI:C1335942 is_a: DOID:2115 ! B cell deficiency [Term] id: DOID:603 name: AIDS phobia subset: NCIthesaurus xref: NCI:C35614 xref: UMLS_CUI:C0853870 is_a: DOID:0060048 ! nosophobia [Term] id: DOID:6031 name: obsolete disseminated squamous cell carcinoma synonym: "Disseminated squamous cell carcinoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:6032 name: juvenile type testicular granulosa cell tumor alt_id: DOID:5332 subset: NCIthesaurus synonym: "Juvenile granulosa cell tumor" EXACT [] synonym: "Juvenile granulosa cell tumour" EXACT [] synonym: "juvenile type granulosa cell neoplasm" EXACT [] synonym: "Juvenile type Granulosa cell tumor" EXACT [] synonym: "Juvenile type Granulosa cell tumour" EXACT [] synonym: "juvenile type testicular granulosa cell tumour" EXACT [] xref: NCI:C39947 xref: NCI:C4207 xref: SNOMEDCT_US_2023_03_01:189735004 xref: UMLS_CUI:C0334403 xref: UMLS_CUI:C1515285 is_a: DOID:5331 ! testicular granulosa cell tumor [Term] id: DOID:6033 name: heart fibrosarcoma subset: NCIthesaurus synonym: "cardiac fibrosarcoma" EXACT [] synonym: "Fibrosarcoma of the Heart" EXACT [] xref: NCI:C5361 xref: UMLS_CUI:C1332844 is_a: DOID:5262 ! heart sarcoma [Term] id: DOID:6034 name: heart malignant hemangiopericytoma def: "A heart sarcoma that is a soft tissue sarcoma located in the heart." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16434949] subset: NCIthesaurus synonym: "malignant hemangiopericytoma of Heart" EXACT [] xref: NCI:C5365 xref: UMLS_CUI:C1334567 is_a: DOID:5262 ! heart sarcoma [Term] id: DOID:6037 name: spindle cell intraocular melanoma def: "An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page3] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Uveal spindle cell melanoma" EXACT [] xref: NCI:C7986 xref: UMLS_CUI:C0279687 is_a: DOID:1752 ! ocular melanoma [Term] id: DOID:6039 name: uveal melanoma def: "A uveal cancer that has_material_basis_in uvea pigment cells." [url:http\://cancergenome.nih.gov/cancersselected/UvealMelanoma, url:http\://en.wikipedia.org/wiki/Uveal_melanoma] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "melanoma of Uvea" EXACT [] xref: MESH:C536494 xref: MIM:155720 xref: MIM:606660 xref: MIM:606661 xref: NCI:C7712 xref: ORDO:39044 xref: UMLS_CUI:C0220633 is_a: DOID:1909 ! melanoma is_a: DOID:3479 ! uveal cancer [Term] id: DOID:6041 name: choroid spindle cell melanoma def: "A malignant choroid melanoma that is located_in the choroid." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/allpages/print] subset: NCIthesaurus synonym: "spindle cell melanoma of the Choroid" EXACT [] xref: NCI:C6099 xref: UMLS_CUI:C1333027 is_a: DOID:1909 ! melanoma is_a: DOID:6438 ! malignant choroid melanoma [Term] id: DOID:6043 name: ciliary body spindle cell melanoma def: "A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968473/, url:https\://www.ncbi.nlm.nih.gov/pubmed/17545559/] subset: NCIthesaurus synonym: "spindle cell melanoma of the Ciliary body" EXACT [] xref: NCI:C6117 xref: UMLS_CUI:C1333052 is_a: DOID:1909 ! melanoma is_a: DOID:4352 ! ciliary body cancer [Term] id: DOID:6045 name: obsolete AIDS retinopathy def: "A Human immunodeficiency virus infectious disease that results_in microvascular changes located_in retina, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cotton-wool spots, has_symptom retinal hemorrhages, and has_symptom microaneurysms." [url:http\://books.google.com/books?id=GP0MEhqMvusC&pg=PA146&lpg=PA146&dq, url:http\://www.ophthobook.com/chapters/infections] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:6048 name: telangiectatic glomangioma subset: NCIthesaurus xref: NCI:C5345 xref: UMLS_CUI:C1336699 is_a: DOID:2435 ! skin glomangioma [Term] id: DOID:605 name: flying phobia def: "A specific phobia that is characterized by a fear of flying." [url:http\://en.wikipedia.org/wiki/Fear_of_flying] subset: NCIthesaurus xref: ICD10CM:F40.243 xref: MESH:C000719189 xref: NCI:C35413 xref: SNOMEDCT_US_2023_03_01:247854002 xref: UMLS_CUI:C0344318 is_a: DOID:599 ! specific phobia [Term] id: DOID:6050 name: esophageal disease alt_id: DOID:10117 alt_id: DOID:10118 alt_id: DOID:11798 def: "A gastrointestinal system disease that is located_in the esophagus." [url:http\://en.wikipedia.org/wiki/Esophageal_disease] subset: NCIthesaurus synonym: "esophageal Ulcer" EXACT [] xref: ICD10CM:K22.9 xref: ICD9CM:530.9 xref: MESH:D004935 xref: NCI:C3027 xref: SNOMEDCT_US_2023_03_01:266497000 xref: UMLS_CUI:C0014852 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:6052 name: central nervous system childhood germ cell tumor subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "central nervous system childhood germ cell tumour" EXACT [] synonym: "paediatric germ cell neoplasm of CNS" EXACT [] synonym: "pediatric germ cell neoplasm of CNS" EXACT [] xref: NCI:C6205 xref: UMLS_CUI:C0278754 is_a: DOID:4439 ! central nervous system germ cell tumor [Term] id: DOID:6053 name: childhood germ cell cancer def: "A germ cell cancer that presents in childhood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23559398] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "paediatric germ cell cancer" EXACT [] synonym: "paediatric germ cell neoplasm" EXACT [] synonym: "pediatric germ cell cancer" EXACT [] synonym: "pediatric germ cell neoplasm" EXACT [] synonym: "pediatric germ cell tumor" RELATED [] xref: NCI:C7928 xref: UMLS_CUI:C0279014 is_a: DOID:2994 ! germ cell cancer [Term] id: DOID:6054 name: frontal sinus Schneiderian papilloma subset: NCIthesaurus synonym: "Schneiderian papilloma of the Frontal sinus" EXACT [] xref: NCI:C6837 xref: UMLS_CUI:C1333645 is_a: DOID:1361 ! frontal sinus benign neoplasm [Term] id: DOID:6055 name: obsolete paranasal sinus Schneiderian papilloma synonym: "Schneiderian papilloma of Accessory sinus" EXACT [] is_obsolete: true [Term] id: DOID:6059 name: nasal vestibule papilloma subset: NCIthesaurus synonym: "papilloma of nasal vestibule" EXACT [] synonym: "squamous papilloma of the nasal Vestibule" EXACT [] xref: NCI:C4369 xref: SNOMEDCT_US_2023_03_01:232364006 xref: UMLS_CUI:C0339826 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:2615 ! papilloma [Term] id: DOID:606 name: Brown-Sequard syndrome subset: DO_rare_slim subset: NCIthesaurus synonym: "Brown-Squard syndrome" EXACT [] xref: GARD:5964 xref: ICD10CM:G83.81 xref: MESH:D018437 xref: NCI:C84601 xref: SNOMEDCT_US_2023_03_01:27982003 xref: UMLS_CUI:C0242644 is_a: DOID:607 ! paraplegia [Term] id: DOID:6065 name: urinary tract non-invasive transitional cell neoplasm subset: NCIthesaurus xref: NCI:C39854 xref: UMLS_CUI:C1518361 is_a: DOID:5433 ! urinary tract papillary transitional cell benign neoplasm [Term] id: DOID:6067 name: ovarian mucinous neoplasm alt_id: DOID:3712 def: "An ovary epithelial cancer that is characterized by the presence of mucin." [url:https\://en.wikipedia.org/wiki/Ovarian_mucinous_tumor] subset: NCIthesaurus synonym: "malignant ovarian mucinous neoplasm" EXACT [] synonym: "mucinous tumor of Ovary" EXACT [] synonym: "Ovarian mucinous tumor" EXACT [] xref: NCI:C40033 xref: NCI:C5242 xref: SNOMEDCT_US_2023_03_01:189683008 xref: UMLS_CUI:C1335168 xref: UMLS_CUI:C1518233 is_a: DOID:2152 ! ovary epithelial cancer [Term] id: DOID:607 name: paraplegia subset: DO_rare_slim subset: NCIthesaurus synonym: "Paraplegia, lower" EXACT [] xref: GARD:7327 xref: ICD10CM:G82.2 xref: ICD9CM:344.1 xref: MESH:D010264 xref: NCI:C50687 xref: SNOMEDCT_US_2023_03_01:155031004 xref: UMLS_CUI:C0030486 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:6071 name: obsolete resectable duodenal carcinoma is_obsolete: true [Term] id: DOID:6077 name: obsolete localized malignant mesothelioma is_obsolete: true [Term] id: DOID:6078 name: obsolete secondary malignant neoplasm to the nervous system is_obsolete: true [Term] id: DOID:6079 name: obsolete drop secondary malignant neoplasm to the spinal cord synonym: "Drop metastatic tumor to the Spinal Cord" EXACT [] is_obsolete: true [Term] id: DOID:6080 name: obsolete spinal cord secondary cancer synonym: "metastatic tumor to the Spinal Cord" EXACT [] synonym: "secondary malignant neoplasm of spinal cord (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:6081 name: obsolete childhood testicular endodermal sinus neoplasm synonym: "pediatric testicular Yolk Sac tumor" EXACT [] is_obsolete: true [Term] id: DOID:6082 name: childhood testicular germ cell tumor subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "paediatric testicular germ cell neoplasm" EXACT [] synonym: "paediatric testicular germ cell tumour" EXACT [] synonym: "pediatric testicular germ cell neoplasm" EXACT [] synonym: "pediatric testicular germ cell tumor" EXACT [] xref: NCI:C6552 xref: UMLS_CUI:C0796663 is_a: DOID:5557 ! testicular germ cell cancer [Term] id: DOID:6083 name: childhood ovarian endodermal sinus tumor def: "An ovarian endodermal sinus tumor that presents in childhood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8649322, url:https\://www.ncbi.nlm.nih.gov/pubmed/9949591] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood ovarian endodermal sinus neoplasm" EXACT [] synonym: "childhood ovarian endodermal sinus tumour" EXACT [] synonym: "childhood ovarian yolk sac tumor" EXACT [] synonym: "childhood ovarian yolk sac tumour" EXACT [] synonym: "paediatric Ovarian Yolk Sac tumour" EXACT [] synonym: "pediatric Ovarian Yolk Sac tumor" EXACT [] xref: NCI:C6551 xref: UMLS_CUI:C1332993 is_a: DOID:5350 ! ovarian endodermal sinus tumor [Term] id: DOID:6084 name: childhood ovarian germ cell tumor def: "An ovarian germ cell cancer that presents in childhood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24395845] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "paediatric Ovarian germ cell neoplasm" EXACT [] synonym: "paediatric ovarian germ cell tumour" EXACT [] synonym: "pediatric Ovarian germ cell neoplasm" EXACT [] synonym: "pediatric ovarian germ cell tumor" EXACT [] xref: NCI:C8588 xref: UMLS_CUI:C0796664 is_a: DOID:2156 ! ovarian germ cell cancer [Term] id: DOID:6085 name: meningeal melanoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "melanoma of the leptomeninges" EXACT [] xref: ICDO:8720/3 xref: NCI:C5317 xref: SNOMEDCT_US_2023_03_01:726420002 xref: UMLS_CUI:C1334386 is_a: DOID:6086 ! malignant leptomeningeal neoplasm [Term] id: DOID:6086 name: malignant leptomeningeal neoplasm subset: DO_cancer_slim subset: NCIthesaurus synonym: "leptomeningeal cancer" EXACT [] synonym: "malignant leptomeningeal tumor" EXACT [] synonym: "malignant leptomeningeal tumour" EXACT [] synonym: "malignant tumor of Leptomeninges" EXACT [] synonym: "malignant tumour of Leptomeninges" EXACT [] xref: NCI:C8506 xref: UMLS_CUI:C1334596 is_a: DOID:3565 ! meningioma [Term] id: DOID:6087 name: obsolete predominant disturbance of emotions is_obsolete: true [Term] id: DOID:6088 name: acute stress disorder def: "An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD." [url:http\://ptsd.about.com/od/causesanddevelopment/a/acutestress.htm] synonym: "traumatic stress disorder" EXACT [] xref: ICD9CM:308.3 xref: SNOMEDCT_US_2023_03_01:192043003 xref: UMLS_CUI:C0029488 is_a: DOID:2030 ! anxiety disorder [Term] id: DOID:6089 name: childhood leptomeningeal melanoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric leptomeningeal melanoma" EXACT [] xref: NCI:C5318 xref: UMLS_CUI:C1332976 is_a: DOID:6085 ! meningeal melanoma [Term] id: DOID:609 name: obsolete skin abnormality is_obsolete: true [Term] id: DOID:6090 name: adult leptomeningeal melanoma subset: NCIthesaurus synonym: "melanoma of adult Leptomeninges" EXACT [] xref: NCI:C5319 xref: UMLS_CUI:C1332204 is_a: DOID:6085 ! meningeal melanoma [Term] id: DOID:6091 name: obsolete ampulla of vater intestinal type adenocarcinoma is_obsolete: true [Term] id: DOID:6098 name: thalamic neoplasm alt_id: DOID:6096 subset: NCIthesaurus synonym: "malignant neoplasm of thalamus" EXACT [] synonym: "malignant tumor of Thalamus" EXACT [] synonym: "tumor of Thalamus" EXACT [] xref: NCI:C4576 xref: NCI:C6221 xref: SNOMEDCT_US_2023_03_01:188287005 xref: UMLS_CUI:C0346902 xref: UMLS_CUI:C1336733 is_a: DOID:3843 ! diencephalic neoplasm [Term] id: DOID:61 name: mitral valve disease alt_id: DOID:11505 alt_id: DOID:58 alt_id: DOID:59 subset: NCIthesaurus synonym: "chronic rheumatic mitral valve" EXACT [] synonym: "disease of mitral valve" EXACT [] synonym: "Mitral RH valve dis." EXACT [] synonym: "rheumatic disease of mitral valve" EXACT [] synonym: "Rheumatic mitral insufficiency" EXACT [] synonym: "Rheumatic mitral valve changes" EXACT [] synonym: "rheumatic mitral valve incompetence" EXACT [] synonym: "Rheumatic mitral valve regurgitation" EXACT [] xref: ICD10CM:I05 xref: ICD10CM:I05.1 xref: ICD9CM:394 xref: ICD9CM:394.1 xref: ICD9CM:424.0 xref: NCI:C78446 xref: SNOMEDCT_US_2023_03_01:11851006 xref: SNOMEDCT_US_2023_03_01:155278007 xref: SNOMEDCT_US_2023_03_01:83898004 xref: UMLS_CUI:C0026265 xref: UMLS_CUI:C0155563 xref: UMLS_CUI:C0264765 is_a: DOID:4079 ! heart valve disease [Term] id: DOID:6101 name: signet ring cell variant cervical mucinous adenocarcinoma def: "A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802128/] subset: NCIthesaurus xref: NCI:C40205 xref: UMLS_CUI:C1516424 is_a: DOID:3701 ! cervical mucinous adenocarcinoma [Term] id: DOID:6102 name: herpetic gastritis def: "A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1063088] subset: DO_infectious_disease_slim subset: NCIthesaurus xref: NCI:C27341 xref: UMLS_CUI:C1333996 is_a: DOID:2327 ! viral gastritis [Term] id: DOID:6103 name: thoracic spinal canal and spinal cord meningioma subset: NCIthesaurus synonym: "meningioma of the Thoracic Spinal canal and Spinal Cord" EXACT [] xref: NCI:C5297 xref: UMLS_CUI:C1336738 is_a: DOID:1140 ! spinal canal and spinal cord meningioma [Term] id: DOID:6104 name: obsolete mixed embryonal carcinoma and teratoma of the mediastinum synonym: "Teratocarcinoma of mediastinum" EXACT [] is_obsolete: true [Term] id: DOID:6105 name: obsolete mediastinum malignant teratoma synonym: "malignant mediastinal teratoma" EXACT [] synonym: "malignant teratoma of mediastinum (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:6107 name: obsolete mediastinal mixed non-seminomatous germ cell tumor synonym: "mixed Non-Seminomatous germ cell tumor of mediastinum" EXACT [] is_obsolete: true [Term] id: DOID:6108 name: obsolete mesenchymal hamartoma of the liver synonym: "mesenchymal hamartoma of Liver" EXACT [] is_obsolete: true [Term] id: DOID:6109 name: obsolete hepatic and intrahepatic bile duct non-epithelial neoplasm is_obsolete: true [Term] id: DOID:611 name: obsolete leukocyte-adhesion deficiency syndrome is_obsolete: true [Term] id: DOID:6110 name: jugular foramen meningioma subset: NCIthesaurus synonym: "meningioma of the Jugular Foramen" EXACT [] xref: NCI:C5293 xref: UMLS_CUI:C1334298 is_a: DOID:3565 ! meningioma [Term] id: DOID:6111 name: obsolete jugular foramen neoplasm synonym: "tumor of Jugular Foramen" EXACT [] is_obsolete: true [Term] id: DOID:6112 name: cerebral meningioma subset: NCIthesaurus synonym: "meningioma of Cerebrum" EXACT [] xref: NCI:C4807 xref: SNOMEDCT_US_2023_03_01:189164002 xref: UMLS_CUI:C0542564 is_a: DOID:0060106 ! brain meningioma is_a: DOID:368 ! cerebrum cancer [Term] id: DOID:6113 name: intracerebral cystic meningioma subset: NCIthesaurus xref: NCI:C5269 xref: UMLS_CUI:C1334236 is_a: DOID:6112 ! cerebral meningioma [Term] id: DOID:6114 name: cerebral convexity meningioma subset: NCIthesaurus synonym: "Cerebral Hemispheric Convexity meningioma" EXACT [] xref: MESH:D008579 xref: NCI:C4959 xref: UMLS_CUI:C0751303 is_a: DOID:6112 ! cerebral meningioma [Term] id: DOID:6115 name: lateral ventricle meningioma subset: NCIthesaurus synonym: "meningioma of the Lateral Ventricle" EXACT [] xref: NCI:C5302 xref: UMLS_CUI:C1334380 is_a: DOID:3541 ! cerebral ventricle cancer is_a: DOID:3772 ! intraventricular meningioma is_a: DOID:6112 ! cerebral meningioma [Term] id: DOID:6118 name: renal pelvis inverted papilloma subset: NCIthesaurus synonym: "Inverted papilloma of the kidney Pelvis" EXACT [] xref: NCI:C6187 xref: UMLS_CUI:C1335751 is_a: DOID:2615 ! papilloma is_a: DOID:6119 ! renal pelvis urothelial papilloma [Term] id: DOID:6119 name: renal pelvis urothelial papilloma subset: NCIthesaurus xref: NCI:C4528 xref: UMLS_CUI:C1514844 is_a: DOID:5975 ! renal pelvis papillary tumor [Term] id: DOID:612 name: primary immunodeficiency disease def: "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation." [url:http\://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases] comment: Xref MGI. subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "hypoimmunity" EXACT [] synonym: "immune deficiency disorder" EXACT [] synonym: "immunodeficiency syndrome" EXACT [] xref: ICD10CM:D84.9 xref: ICD9CM:279.3 xref: KEGG:05340 xref: MESH:D007153 xref: MIM:242850 xref: MIM:PS300755 xref: NCI:C39725 xref: SNOMEDCT_US_2023_03_01:191005003 xref: UMLS_CUI:C0021051 is_a: DOID:2914 ! immune system disease [Term] id: DOID:6122 name: obsolete AIDS-related anal cancer def: "An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS." [url:http\://cancer.about.com/od/cancerlistaz/a/AIDS_related.htm] is_obsolete: true [Term] id: DOID:6126 name: anal canal carcinoma def: "An anal canal cancer that derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "anal canal and Perianal gland carcinoma" EXACT [] xref: MESH:C563020 xref: MIM:105580 xref: NCI:C7489 xref: SNOMEDCT_US_2023_03_01:285310000 xref: UMLS_CUI:C0563211 is_a: DOID:0050688 ! anal canal cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:6128 name: gliomatosis cerebri def: "A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells." [url:https\://en.wikipedia.org/wiki/Gliomatosis_cerebri, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5545748/] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Astrocytosis cerebri" EXACT [] xref: GARD:6514 xref: ICDO:9381/3 xref: MESH:D018302 xref: NCI:C4318 xref: SNOMEDCT_US_2023_03_01:26138003 xref: UMLS_CUI:C0334576 is_a: DOID:1319 ! brain cancer [Term] id: DOID:613 name: obsolete T lymphocyte deficiency is_obsolete: true [Term] id: DOID:6132 name: bronchitis alt_id: DOID:13503 alt_id: DOID:13504 alt_id: DOID:13707 alt_id: DOID:13728 alt_id: DOID:13729 alt_id: DOID:5049 alt_id: DOID:6130 alt_id: DOID:6131 alt_id: DOID:9982 alt_id: DOID:9983 def: "A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness." [url:http\://www.nhlbi.nih.gov/health/dci/Diseases/brnchi/brnchi_whatis.html, url:http\://www.nlm.nih.gov/medlineplus/bronchitis.html, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchitis] subset: NCIthesaurus synonym: "acute Bronchitis" EXACT [] synonym: "acute bronchitis and bronchiolitis" RELATED [] synonym: "chest cold" EXACT [] synonym: "Chest infection" EXACT [] synonym: "chronic bronchitis" EXACT [] synonym: "CI - Chest infection" EXACT [] synonym: "recurrent wheezy bronchitis" EXACT [] xref: ICD10CM:J20 xref: ICD10CM:J40 xref: ICD10CM:J42 xref: ICD9CM:466.0 xref: ICD9CM:490 xref: ICD9CM:491 xref: MESH:D001991 xref: MESH:D029481 xref: NCI:C26722 xref: NCI:C26932 xref: NCI:C2911 xref: SNOMEDCT_US_2023_03_01:155512004 xref: SNOMEDCT_US_2023_03_01:155566007 xref: SNOMEDCT_US_2023_03_01:32398004 xref: UMLS_CUI:C0006277 xref: UMLS_CUI:C0008677 xref: UMLS_CUI:C0149514 is_a: DOID:1176 ! bronchial disease [Term] id: DOID:6139 name: uterine corpus epithelioid leiomyosarcoma def: "A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339182/] subset: NCIthesaurus xref: NCI:C40174 xref: UMLS_CUI:C1519851 is_a: DOID:5289 ! uterus leiomyosarcoma [Term] id: DOID:614 name: lymphopenia def: "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood." [url:http\://en.wikipedia.org/wiki/Lymphopenia] synonym: "Lymphocytopenia" EXACT [] xref: ICD10CM:D72.810 xref: ICD9CM:288.51 xref: MESH:D008231 xref: SNOMEDCT_US_2023_03_01:48813009 xref: UMLS_CUI:C0024312 is_a: DOID:615 ! leukopenia [Term] id: DOID:6148 name: nasal cavity carcinoma in situ def: "An in situ carcinoma that is located_in the nasal cavity." [url:http\://www.cancerresearchuk.org/about-cancer/nasal-sinus-cancer/stages-grades/nasal-cavity-number-stages] synonym: "carcinoma in situ of nasal cavities" EXACT [] synonym: "carcinoma in situ of nasal cavity" EXACT [] synonym: "stage 0 carcinoma of the nasal cavity" EXACT [] xref: ICD10CM:D02.3 xref: SNOMEDCT_US_2023_03_01:92663007 xref: UMLS_CUI:C0347095 is_a: DOID:2163 ! nasal cavity disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:615 name: leukopenia def: "A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection." [url:http\://en.wikipedia.org/wiki/Leukopenia] synonym: "Leucopenia" EXACT [] xref: ICD10CM:D72.819 xref: ICD9CM:288.50 xref: MESH:D007970 xref: SNOMEDCT_US_2023_03_01:142917003 xref: UMLS_CUI:C0023530 is_a: DOID:9500 ! leukocyte disease property_value: exactMatch "MESH:D007970" xsd:string [Term] id: DOID:616 name: obsolete Deltaretrovirus infectious disease def: "A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Deltaretrovirus, which is transmitted_by congenital method, and transmitted_by sexual contact." [url:http\://www.expasy.org/viralzone/all_by_species/91.html] is_obsolete: true [Term] id: DOID:6160 name: childhood choriocarcinoma of the testis def: "A choriocarcinoma of the testis that is present during childhood." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204242/] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric testicular Choriocarcinoma" EXACT [] xref: NCI:C6544 xref: UMLS_CUI:C1333006 is_a: DOID:5551 ! choriocarcinoma of the testis [Term] id: DOID:6161 name: childhood testicular mixed germ cell tumor subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood testicular mixed germ cell tumour" EXACT [] synonym: "paediatric testicular mixed germ cell tumour" EXACT [] synonym: "pediatric testicular mixed germ cell tumor" EXACT [] xref: NCI:C6542 xref: UMLS_CUI:C1333009 is_a: DOID:4743 ! mixed testicular germ cell tumor [Term] id: DOID:6162 name: childhood embryonal testis carcinoma def: "An embryonal testis carcinoma that occurs in children." [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood embryonal carcinoma of the testis" RELATED [] synonym: "pediatric testicular Embryonal carcinoma" EXACT [] xref: NCI:C6545 xref: UMLS_CUI:C1333007 is_a: DOID:5680 ! embryonal testis carcinoma [Term] id: DOID:6163 name: familial renal papillary carcinoma subset: NCIthesaurus synonym: "Hereditary Papillary renal carcinoma" EXACT [] xref: NCI:C9222 xref: SNOMEDCT_US_2023_03_01:715561008 xref: UMLS_CUI:C0879257 is_a: DOID:4455 ! hereditary renal cell carcinoma [Term] id: DOID:6166 name: prostatic urethra urothelial carcinoma subset: NCIthesaurus xref: NCI:C39900 xref: UMLS_CUI:C1514522 is_a: DOID:6167 ! prostatic urethral cancer [Term] id: DOID:6167 name: prostatic urethral cancer subset: NCIthesaurus xref: NCI:C39870 xref: UMLS_CUI:C1514523 is_a: DOID:736 ! male urethral cancer [Term] id: DOID:617 name: obsolete Retroviridae infectious disease def: "A ssRNA-RT virus infectious disease that results_in infection in animals and humans, has_material_basis_in Retroviridae viruses." [url:http\://en.wikipedia.org/wiki/Retroviridae] synonym: "disease due to Retroviridae (disorder)" EXACT [] synonym: "Retroviridae disease" EXACT [] is_obsolete: true [Term] id: DOID:6170 name: ovarian carcinosarcoma def: "A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938474/] subset: DO_rare_slim subset: NCIthesaurus synonym: "ovarian malignant mesodermal (mullerian) mixed tumor" EXACT [] synonym: "ovarian malignant mixed Mullerian tumor" EXACT [] synonym: "Ovarian MMMT" EXACT [] xref: GARD:7296 xref: NCI:C9192 xref: SNOMEDCT_US_2023_03_01:702368000 xref: UMLS_CUI:C0392998 is_a: DOID:2151 ! malignant ovarian surface epithelial-stromal neoplasm [Term] id: DOID:6171 name: uterine carcinosarcoma def: "A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." [url:http\://cancergenome.nih.gov/cancersselected/UterineCarcinosarcoma, url:http\://en.wikipedia.org/wiki/Carcinosarcoma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "mixed mullerian sarcoma of uterus" EXACT [] xref: GARD:12335 xref: NCI:C42700 xref: SNOMEDCT_US_2023_03_01:702369008 xref: UMLS_CUI:C0280630 is_a: DOID:4114 ! uterine body mixed cancer [Term] id: DOID:6174 name: obsolete sporadic conventional renal cell carcinoma is_obsolete: true [Term] id: DOID:6175 name: mediastinal neurilemmoma alt_id: DOID:7922 def: "A neurilemmoma located_in the mediastinum." [url:https\://pubmed.ncbi.nlm.nih.gov/25992358] subset: NCIthesaurus synonym: "Schwannoma of mediastinum" EXACT [] xref: NCI:C6643 xref: UMLS_CUI:C1334679 is_a: DOID:956 ! peripheral nerve schwannoma [Term] id: DOID:6178 name: obsolete metastatic ovarian small cell carcinoma with hypercalcemia is_obsolete: true [Term] id: DOID:6179 name: ovarian small cell carcinoma def: "An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3858994/] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10411 xref: NCI:C27390 is_a: DOID:4001 ! ovarian carcinoma [Term] id: DOID:6180 name: obsolete Cytomegalovirus gastritis def: "A Cytomegalovirus infectious disease that results_in inflammation located_in stomach lining, has_material_basis_in Human herpesvirus 5, has_symptom dyspepsia, and has_symptom nausea and vomiting." [url:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html?qt=gastritis&alt=sh] synonym: "CMV Gastritis" EXACT [] synonym: "CMV-Related Gastritis" EXACT [] is_obsolete: true [Term] id: DOID:6184 name: obsolete squamous cell carcinoma of unknown primary is_obsolete: true [Term] id: DOID:619 name: obsolete lymphoproliferative disease synonym: "Duncan's syndrome" EXACT [] is_obsolete: true [Term] id: DOID:6190 name: rectum Kaposi's sarcoma def: "A sarcoma of the rectum that results_in lesions that are located_in the rectum." [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp] subset: NCIthesaurus synonym: "Kaposi's sarcoma of rectum" EXACT [] synonym: "rectum Kaposi sarcoma" EXACT [] xref: NCI:C5550 xref: SNOMEDCT_US_2023_03_01:1156797006 xref: UMLS_CUI:C1335681 is_a: DOID:1995 ! rectum sarcoma [Term] id: DOID:6192 name: malignant inflammatory fibrous histiocytoma subset: NCIthesaurus synonym: "inflammatory MFH" EXACT [] synonym: "Xanthosarcoma" EXACT [] xref: NCI:C6497 xref: UMLS_CUI:C1334180 is_a: DOID:1907 ! malignant fibrous histiocytoma [Term] id: DOID:6193 name: epithelioid sarcoma def: "A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue." [url:https\://en.wikipedia.org/wiki/Epithelioid_sarcoma, url:https\://www.mayoclinic.org/diseases-conditions/epithelioid-sarcoma/cdc-20392420] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "epithelioid cell sarcoma" EXACT [] xref: GARD:10181 xref: ICDO:8804/3 xref: MESH:D012509 xref: NCI:C3714 xref: SNOMEDCT_US_2023_03_01:782827000 xref: UMLS_CUI:C0205944 is_a: DOID:1115 ! sarcoma is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:6195 name: conjunctivitis def: "A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids." [url:http\://en.wikipedia.org/wiki/Conjunctivitis] subset: NCIthesaurus synonym: "Madras eye" RELATED [] xref: ICD10CM:H10 xref: ICD9CM:372.30 xref: MESH:D003231 xref: NCI:C34504 xref: SNOMEDCT_US_2023_03_01:193857008 xref: UMLS_CUI:C0009763 is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:6196 name: reactive arthritis alt_id: DOID:10148 alt_id: DOID:11891 alt_id: DOID:13318 alt_id: DOID:13519 alt_id: DOID:13782 alt_id: DOID:13783 alt_id: DOID:13784 alt_id: DOID:13785 alt_id: DOID:6194 alt_id: DOID:9760 def: "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." [url:http\://en.wikipedia.org/wiki/Reactive_arthritis, url:http\://www.about-reactive-arthritis.com/, url:http\://www.mayoclinic.com/health/reactive-arthritis/DS00486/DSECTION=causes, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000440.htm] subset: DO_rare_slim subset: NCIthesaurus synonym: "Fiessinger Leroy Reiter syndrome" EXACT [] synonym: "Post-bacterial arthropathy" EXACT [] synonym: "postdysenteric arthropathy" EXACT [] synonym: "Reiter disease" EXACT [] synonym: "Reiter's disease" EXACT [] xref: GARD:5693 xref: ICD10CM:M02.10 xref: ICD10CM:M02.3 xref: ICD9CM:099.3 xref: ICD9CM:711.30 xref: MESH:D016918 xref: NCI:C34975 xref: SNOMEDCT_US_2023_03_01:266212009 xref: SNOMEDCT_US_2023_03_01:56528004 xref: UMLS_CUI:C0035012 xref: UMLS_CUI:C0152085 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:848 ! arthritis [Term] id: DOID:6197 name: conventional malignant hemangiopericytoma subset: NCIthesaurus xref: NCI:C9425 xref: UMLS_CUI:C1333158 is_a: DOID:264 ! hemangiopericytoma [Term] id: DOID:6198 name: corneal intraepithelial neoplasm subset: NCIthesaurus xref: NCI:C6093 xref: SNOMEDCT_US_2023_03_01:420835009 xref: UMLS_CUI:C1333159 is_a: DOID:10124 ! corneal disease is_a: DOID:5465 ! conjunctival intraepithelial neoplasm [Term] id: DOID:6199 name: cornea cancer alt_id: DOID:12757 subset: DO_RAD_slim subset: NCIthesaurus synonym: "Corneal tumor" EXACT [] synonym: "malignant Corneal tumor" EXACT [] synonym: "malignant neoplasm of cornea" EXACT [] synonym: "malignant tumor of cornea" EXACT [] synonym: "neoplasm of cornea" EXACT [] xref: ICD10CM:C69.1 xref: ICD9CM:190.4 xref: NCI:C3565 xref: NCI:C4361 xref: SNOMEDCT_US_2023_03_01:126997008 xref: SNOMEDCT_US_2023_03_01:93766000 xref: UMLS_CUI:C0153629 xref: UMLS_CUI:C0339304 is_a: DOID:10124 ! corneal disease is_a: DOID:2174 ! ocular cancer [Term] id: DOID:62 name: aortic valve disease alt_id: DOID:56 def: "A heart valve disease that is located_in the aortic valve." [url:https\://www.mayoclinic.org/diseases-conditions/aortic-valve-disease/symptoms-causes/syc-20355117] comment: Updating out dated UMLS CUI. subset: NCIthesaurus xref: ICD9CM:424.1 xref: MESH:D000082862 xref: NCI:C78650 xref: SNOMEDCT_US_2023_03_01:8722008 xref: UMLS_CUI:C1260873 is_a: DOID:4079 ! heart valve disease is_a: DOID:520 ! aortic disease [Term] id: DOID:620 name: blood protein disease synonym: "blood protein disorder" EXACT [] xref: MESH:D001796 xref: UMLS_CUI:C0005830 is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:6200 name: obsolete recurrent malignant pericardial mesothelioma is_obsolete: true [Term] id: DOID:6201 name: pericardial mesothelioma alt_id: DOID:5883 alt_id: DOID:7433 subset: NCIthesaurus synonym: "malignant mesothelioma of pericardium" EXACT [] synonym: "malignant Pericardial Mesothelioma" EXACT [] xref: ICD10CM:C45.2 xref: NCI:C7631 xref: NCI:C7632 xref: NCI:C8703 xref: SNOMEDCT_US_2023_03_01:187885008 xref: UMLS_CUI:C0346110 xref: UMLS_CUI:C0854883 xref: UMLS_CUI:C1335381 is_a: DOID:116 ! pericardium cancer [Term] id: DOID:6202 name: obsolete mesothelioma malignant recurrent synonym: "relapsed malignant Mesothelioma" EXACT [] is_obsolete: true [Term] id: DOID:6203 name: thyroid hyalinizing trabecular adenoma subset: NCIthesaurus synonym: "PLAT" EXACT OMO:0003012 [] xref: NCI:C6846 xref: SNOMEDCT_US_2023_03_01:722214003 xref: UMLS_CUI:C1336751 is_a: DOID:6204 ! follicular adenoma [Term] id: DOID:6204 name: follicular adenoma synonym: "Follicular adenoma of the Thyroid gland" EXACT [] synonym: "Thyroid follicular adenoma" EXACT [] xref: ICDO:8330/0 xref: MESH:D000236 xref: SNOMEDCT_US_2023_03_01:55021007 xref: UMLS_CUI:C0205647 is_a: DOID:2891 ! thyroid adenoma [Term] id: DOID:6208 name: mediastinal osteogenic sarcoma subset: NCIthesaurus synonym: "Osteosarcoma of mediastinum" EXACT [] xref: NCI:C6615 xref: UMLS_CUI:C1334675 is_a: DOID:4050 ! mediastinum sarcoma [Term] id: DOID:6209 name: malignant mediastinum hemangiopericytoma def: "A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum." [url:https\://pubmed.ncbi.nlm.nih.gov/7967247/] subset: NCIthesaurus synonym: "malignant hemangiopericytoma of mediastinum" EXACT [] xref: NCI:C6608 xref: UMLS_CUI:C1334598 is_a: DOID:264 ! hemangiopericytoma [Term] id: DOID:621 name: obsolete simian acquired immunodeficiency syndrome def: "A viral infectious disease that results_in infection in primates and monkeys, has_material_basis_in Simian immunodeficiency virus, which is transmitted_by sexual contact, and transmitted_by ingestion of virus-infected milk. The infection The virus attacks the immune system leading to severe depletion of CD4+ T cells." [url:http\://vir.sgmjournals.org/cgi/reprint/80/7/1557.pdf] synonym: "SAIDS" EXACT [] synonym: "simian lymphoproliferative syndrome" EXACT [] is_obsolete: true [Term] id: DOID:6210 name: bladder diffuse clear cell adenocarcinoma subset: NCIthesaurus xref: NCI:C39849 xref: UMLS_CUI:C1511187 is_a: DOID:5306 ! bladder clear cell adenocarcinoma [Term] id: DOID:6211 name: mixed epithelial tumor of ovary def: "An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957347/] subset: NCIthesaurus synonym: "mixed epithelial tumour of ovary" EXACT [] synonym: "Ovarian mixed epithelial tumor" EXACT [] synonym: "Ovarian mixed epithelial tumour" EXACT [] xref: NCI:C4508 xref: SNOMEDCT_US_2023_03_01:254855000 xref: UMLS_CUI:C0346166 is_a: DOID:0060112 ! ovarian benign neoplasm [Term] id: DOID:6212 name: ovarian endometrial cancer alt_id: DOID:4116 def: "An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary." [url:http\://en.wikipedia.org/wiki/Endometrial_cancer] subset: DO_cancer_slim subset: NCIthesaurus synonym: "endometrioid neoplasm of Ovary" EXACT [] synonym: "malignant ovarian endometrioid tumor" EXACT [] synonym: "ovarian endometrioid neoplasm" EXACT [] xref: NCI:C40051 xref: NCI:C6257 xref: UMLS_CUI:C1335159 xref: UMLS_CUI:C1518231 is_a: DOID:2152 ! ovary epithelial cancer is_a: DOID:3001 ! female reproductive endometrioid cancer [Term] id: DOID:6213 name: obsolete ovarian serous tumor synonym: "Ovarian serous tumor (morphologic abnormality)" EXACT [] synonym: "Ovarian serous tumour" EXACT [] synonym: "serous tumor of Ovary" EXACT [] is_obsolete: true [Term] id: DOID:6214 name: ovarian papillary neoplasm def: "An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology." [url:https\://acsjournals.onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171] subset: NCIthesaurus synonym: "Ovarian papillary tumor" EXACT [] synonym: "Ovarian papillary tumour" EXACT [] synonym: "Papillary tumor of Ovary" EXACT [] xref: NCI:C8430 xref: SNOMEDCT_US_2023_03_01:189683008 xref: UMLS_CUI:C0476121 is_a: DOID:2152 ! ovary epithelial cancer [Term] id: DOID:6217 name: gastric diffuse adenocarcinoma alt_id: DOID:4946 def: "A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9159] subset: NCIthesaurus xref: NCI:C4127 xref: NCI:C9159 xref: SNOMEDCT_US_2023_03_01:24505004 xref: UMLS_CUI:C0279635 xref: UMLS_CUI:C0334280 is_a: DOID:3717 ! gastric adenocarcinoma [Term] id: DOID:622 name: obsolete Lentivirus infectious disease def: "A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Lentivirus, which is transmitted_by sexual contact, transmitted_by breast feeding, and transmitted_by contact of infected blood with any open wound." [url:http\://www.expasy.ch/viralzone/all_by_species/264.html] synonym: "Lentivirus disease" EXACT [] is_obsolete: true [Term] id: DOID:6225 name: Cronkhite-Canada syndrome def: "A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea." [url:https\://pubmed.ncbi.nlm.nih.gov/21881972/] subset: NCIthesaurus synonym: "gastric Cronkhite Canada polyposis" EXACT [] synonym: "polyposis, skin pigmentation, alopecia, and fingernail changes" EXACT [] xref: MIM:175500 xref: NCI:C7035 xref: UMLS_CUI:C1333764 is_a: DOID:76 ! stomach disease [Term] id: DOID:6227 name: articular cartilage disease alt_id: DOID:6226 alt_id: DOID:9366 alt_id: DOID:9871 alt_id: DOID:9872 alt_id: DOID:9873 alt_id: DOID:9874 alt_id: DOID:9875 def: "A cartilage disease that is characterized by damage to the cartilage that covers the ends of the bones." [url:https\://medlineplus.gov/cartilagedisorders.html] xref: ICD9CM:718.0 xref: SNOMEDCT_US_2023_03_01:268062001 xref: UMLS_CUI:C0158073 is_a: DOID:1222 ! cartilage disease [Term] id: DOID:6228 name: peritoneal serous papillary adenocarcinoma subset: NCIthesaurus synonym: "primary serous papillary carcinoma of peritoneum" EXACT [] xref: NCI:C7695 xref: SNOMEDCT_US_2023_03_01:15674004 xref: UMLS_CUI:C1368918 is_a: DOID:4901 ! peritoneal serous adenocarcinoma [Term] id: DOID:6229 name: childhood mature teratoma of the ovary def: "A mature teratoma of the ovary that presents in childhood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30165903] subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric Mature teratoma of Ovary" EXACT [] xref: NCI:C6548 xref: UMLS_CUI:C1332991 is_a: DOID:6231 ! mature teratoma of the ovary [Term] id: DOID:6230 name: childhood teratoma of the ovary def: "An ovarian germ cell teratoma that presents in childhood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/682093] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric teratoma of Ovary" EXACT [] xref: NCI:C6554 xref: UMLS_CUI:C1332992 is_a: DOID:5567 ! ovarian germ cell teratoma [Term] id: DOID:6231 name: mature teratoma of the ovary def: "An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20212374] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C8112 xref: UMLS_CUI:C1334637 is_a: DOID:6232 ! ovarian biphasic or triphasic teratoma [Term] id: DOID:6232 name: ovarian biphasic or triphasic teratoma def: "An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm." [url:https\://www.tandfonline.com/doi/abs/10.1586/eog.10.80] subset: NCIthesaurus xref: NCI:C39992 xref: UMLS_CUI:C1518691 is_a: DOID:5567 ! ovarian germ cell teratoma [Term] id: DOID:6239 name: non-invasive bladder papillary urothelial neoplasm alt_id: DOID:6238 subset: NCIthesaurus synonym: "bladder papillary neoplasm of low malignant potential" EXACT [] synonym: "bladder PUNLMP" EXACT [] synonym: "Papillary urothelial neoplasm of low malignant potential" EXACT [] xref: NCI:C27884 xref: NCI:C39831 xref: SNOMEDCT_US_2023_03_01:128625004 xref: UMLS_CUI:C1266010 xref: UMLS_CUI:C1518358 is_a: DOID:5432 ! bladder papillary transitional cell neoplasm [Term] id: DOID:624 name: transient hypogammaglobulinemia of infancy subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: ICD10CM:D80.7 xref: NCI:C27071 xref: SNOMEDCT_US_2023_03_01:88714009 xref: UMLS_CUI:C0272238 is_a: DOID:625 ! transient hypogammaglobulinemia [Term] id: DOID:6240 name: obsolete transitional cell intraepithelial neoplasm is_obsolete: true [Term] id: DOID:6244 name: familial renal oncocytoma subset: NCIthesaurus xref: NCI:C8960 xref: UMLS_CUI:C0879606 is_a: DOID:6245 ! renal oncocytoma [Term] id: DOID:6245 name: renal oncocytoma comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Oncocytoma of kidney" EXACT [] synonym: "renal epithelial Oncocytic tumor" EXACT [] xref: GARD:8477 xref: MESH:C537750 xref: MIM:553000 xref: NCI:C4526 xref: SNOMEDCT_US_2023_03_01:254922006 xref: UMLS_CUI:C0346255 is_a: DOID:3116 ! kidney benign neoplasm [Term] id: DOID:6246 name: obsolete oncocytic neoplasm comment: OMIM mapping confirmed by DO. [LS]. synonym: "Oncocytic tumor" EXACT [] is_obsolete: true [Term] id: DOID:6249 name: mediastinum seminoma subset: NCIthesaurus synonym: "Seminoma of mediastinum" EXACT [] xref: NCI:C6812 xref: UMLS_CUI:C1334680 is_a: DOID:2994 ! germ cell cancer is_a: DOID:5559 ! mediastinal cancer [Term] id: DOID:625 name: transient hypogammaglobulinemia subset: NCIthesaurus xref: NCI:C27319 xref: UMLS_CUI:C0859960 is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:6250 name: obsolete Epstein-Barr virus related carcinoma def: "An Epstein-Barr virus infectious disease and is_a carcinoma that derives_from epithelial cells, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the epithelial cells that it infects." [url:http\://www.diagnosticpathology.org/content/2/1/25] synonym: "EBV Related carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:6255 name: growth hormone secreting pituitary adenoma comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Growth Hormone Producing adenoma of the Pituitary" EXACT [] synonym: "growth hormone secreting adenoma of pituitary" EXACT [] synonym: "Somatotroph adenoma" EXACT [] xref: MESH:D049912 xref: NCI:C7461 xref: SNOMEDCT_US_2023_03_01:254957009 xref: UMLS_CUI:C0346302 is_a: DOID:5395 ! functioning pituitary adenoma [Term] id: DOID:6256 name: malignant growth hormone secreting neoplasm of pituitary subset: NCIthesaurus synonym: "malignant Somatotropinoma" EXACT [] xref: NCI:C5963 xref: UMLS_CUI:C1334587 is_a: DOID:5716 ! hormone producing pituitary cancer [Term] id: DOID:6257 name: chromophil adenoma of the kidney subset: NCIthesaurus synonym: "Papillary adenoma of the kidney" EXACT [] xref: NCI:C3687 xref: UMLS_CUI:C1518879 is_a: DOID:2697 ! renal adenoma [Term] id: DOID:6258 name: type 1 papillary adenoma of the kidney subset: NCIthesaurus xref: NCI:C39809 xref: UMLS_CUI:C1519706 is_a: DOID:6257 ! chromophil adenoma of the kidney [Term] id: DOID:6259 name: type 2 papillary adenoma of the kidney subset: NCIthesaurus xref: NCI:C39810 xref: UMLS_CUI:C1519710 is_a: DOID:6257 ! chromophil adenoma of the kidney [Term] id: DOID:626 name: complement deficiency def: "A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation." [url:http\://en.wikipedia.org/wiki/Complement_deficiency] subset: NCIthesaurus synonym: "Complement deficiency disease" EXACT [] xref: ICD10CM:D84.1 xref: MESH:D000081208 xref: NCI:C4691 xref: SNOMEDCT_US_2023_03_01:191014008 xref: UMLS_CUI:C0272242 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:6262 name: follicular dendritic cell sarcoma def: "A dendritic cell sarcoma cancer that effects the follicular dendritic cells." [url:http\://en.wikipedia.org/wiki/Follicular_dendritic_cell_sarcoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Follicular Dendritic cell sarcoma" EXACT [] synonym: "Follicular dendritic cell tumour" EXACT [] xref: ICD10CM:C96.4 xref: ICDO:9758/3 xref: MESH:D054740 xref: NCI:C9281 xref: SNOMEDCT_US_2023_03_01:128816008 xref: UMLS_CUI:C1260325 is_a: DOID:7849 ! dendritic cell sarcoma [Term] id: DOID:6263 name: inflammatory breast carcinoma def: "A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852616/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Inflammatory carcinoma of breast" EXACT [] synonym: "Mastitis carcinomatosa" EXACT [] xref: MESH:D058922 xref: NCI:C4001 xref: SNOMEDCT_US_2023_03_01:254840009 xref: UMLS_CUI:C0278601 is_a: DOID:3458 ! breast adenocarcinoma [Term] id: DOID:6268 name: obsolete recurrent extraskeletal chondrosarcoma synonym: "relapsed extraskeletal chondrosarcoma" EXACT [] is_obsolete: true [Term] id: DOID:627 name: severe combined immunodeficiency def: "A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems." [url:http\://www.merriam-webster.com/medlineplus/severe%20combined%20immunodeficiency, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency, url:http\://www.scid.net/, url:https\://www.genome.gov/Genetic-Disorders/Severe-Combined-Immunodeficiency] subset: DO_rare_slim subset: NCIthesaurus synonym: "combined T and B cell inborn immunodeficiency" EXACT [] synonym: "SCID" EXACT OMO:0003012 [] xref: GARD:7628 xref: MESH:D016511 xref: NCI:C3472 xref: SNOMEDCT_US_2023_03_01:190994004 xref: UMLS_CUI:C0085110 is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:6270 name: gastric cardia carcinoma subset: NCIthesaurus synonym: "carcinoma of Cardia of stomach" EXACT [] xref: NCI:C6794 xref: UMLS_CUI:C1333763 is_a: DOID:10548 ! cardia cancer is_a: DOID:5517 ! stomach carcinoma [Term] id: DOID:6271 name: gastric cardia adenocarcinoma subset: NCIthesaurus synonym: "adenocarcinoma of Cardia of stomach" EXACT [] synonym: "adenocarcinoma of gastric cardia" RELATED [] xref: NCI:C5247 xref: UMLS_CUI:C1333762 is_a: DOID:10548 ! cardia cancer is_a: DOID:3717 ! gastric adenocarcinoma [Term] id: DOID:6273 name: obsolete metastasis to pituitary gland is_obsolete: true [Term] id: DOID:6274 name: malignant thyroid stimulating hormone producing neoplasm of pituitary gland subset: NCIthesaurus synonym: "malignant Thyrotropinoma" EXACT [] xref: NCI:C5965 xref: UMLS_CUI:C1334627 is_a: DOID:5716 ! hormone producing pituitary cancer [Term] id: DOID:6275 name: TSH producing pituitary tumor subset: NCIthesaurus synonym: "Thyrotroph adenoma" EXACT [] synonym: "TSH producing pituitary tumour" EXACT [] synonym: "TSH Secreting adenoma of the Pituitary" EXACT [] synonym: "TSH Secreting tumor of Pituitary" EXACT [] synonym: "TSH Secreting tumour of Pituitary" EXACT [] xref: NCI:C7915 xref: SNOMEDCT_US_2023_03_01:254959007 xref: UMLS_CUI:C0346303 is_a: DOID:5395 ! functioning pituitary adenoma [Term] id: DOID:6276 name: malignant ACTH producing neoplasm of pituitary gland subset: NCIthesaurus synonym: "malignant Corticotropinoma of the Pituitary" EXACT [] xref: NCI:C5964 xref: UMLS_CUI:C1334556 is_a: DOID:5716 ! hormone producing pituitary cancer [Term] id: DOID:6277 name: obsolete ACTH-producing pituitary tumor synonym: "Pituitary Corticotropin Secreting tumor" EXACT [] is_obsolete: true [Term] id: DOID:6278 name: ovarian mucinous malignant adenofibroma def: "An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23297622] subset: NCIthesaurus synonym: "ovarian mucinous adenocarcinofibroma" EXACT [] xref: NCI:C40034 is_a: DOID:6067 ! ovarian mucinous neoplasm [Term] id: DOID:628 name: combined T cell and B cell immunodeficiency def: "A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity." [url:http\://en.wikipedia.org/wiki/Combined_immunodeficiencies, url:http\://rarediseases.info.nih.gov/gard/7628/severe-combined-immunodeficiency/resources/1, url:https\://link.springer.com/chapter/10.1007/978-3-662-52909-6_2] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "Congenital Combined Immunodeficiency" EXACT [] xref: ICD10CM:D81 xref: ICD9CM:279.2 xref: NCI:C27871 xref: ORDO:101972 xref: SNOMEDCT_US_2023_03_01:442459007 xref: UMLS_CUI:C2711630 is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:6284 name: epicardium lipoma def: "A heart lipoma that is located_in the epicardium and derives_from fat cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23438624] subset: NCIthesaurus synonym: "Lipoma of Epicardium" EXACT [] xref: NCI:C6742 xref: UMLS_CUI:C1333411 is_a: DOID:6285 ! heart lipoma [Term] id: DOID:6285 name: heart lipoma subset: NCIthesaurus synonym: "Lipoma of Heart" EXACT [] xref: NCI:C6741 xref: UMLS_CUI:C1332849 is_a: DOID:0060091 ! cardiovascular organ benign neoplasm is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:114 ! heart disease is_a: DOID:3315 ! lipoma [Term] id: DOID:6286 name: childhood cerebellar astrocytic neoplasm subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric astrocytoma of Cerebellum" EXACT [] xref: NCI:C6286 xref: UMLS_CUI:C0278594 is_a: DOID:4848 ! cerebellar astrocytoma [Term] id: DOID:6287 name: obsolete recurrent pediatric cerebellar astrocytoma synonym: "relapsed pediatric astrocytoma of Cerebellum" EXACT [] is_obsolete: true [Term] id: DOID:6288 name: obsolete recurrent childhood brain tumor synonym: "relapsed tumor of pediatric brain" EXACT [] is_obsolete: true [Term] id: DOID:629 name: obsolete congenital disorder of natural immunity is_obsolete: true [Term] id: DOID:6291 name: cerebral hemisphere lipoma subset: NCIthesaurus synonym: "Lipoma of the Cerebral Hemisphere" EXACT [] xref: NCI:C6220 xref: UMLS_CUI:C1332907 is_a: DOID:6293 ! central nervous system lipoma [Term] id: DOID:6292 name: obsolete intracranial lipoma is_obsolete: true [Term] id: DOID:6293 name: central nervous system lipoma def: "A central nervous system benign neoplasm that derives_from fat cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12597248] subset: NCIthesaurus synonym: "Lipoma of the CNS" EXACT [] xref: NCI:C5451 xref: UMLS_CUI:C1332885 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:3315 ! lipoma [Term] id: DOID:6294 name: corpus callosum lipoma subset: NCIthesaurus synonym: "Lipoma of the Corpus Callosum" EXACT [] xref: NCI:C5438 xref: UMLS_CUI:C1333160 is_a: DOID:6291 ! cerebral hemisphere lipoma [Term] id: DOID:6296 name: obsolete Herpes simplex virus esophagitis def: "A Simplexvirus infectious disease that results_in inflammation located_in esophagus, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom difficulty swallowing, has_symptom fever, has_symptom herpetic lesions and has_symptom painful swallowing." [url:http\://en.wikipedia.org/wiki/Herpes_simplex, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000646.htm] synonym: "herpes simplex esophagitis" EXACT [] is_obsolete: true [Term] id: DOID:6297 name: viral esophagitis subset: DO_infectious_disease_slim subset: NCIthesaurus xref: NCI:C27108 xref: SNOMEDCT_US_2023_03_01:235603003 xref: UMLS_CUI:C0341110 is_a: DOID:11963 ! esophagitis is_a: DOID:934 ! viral infectious disease [Term] id: DOID:630 name: genetic disease def: "A disease that has_material_basis_in genetic variations in the human genome." [url:http\://ghr.nlm.nih.gov/] subset: DO_CFDE_slim subset: DO_RAD_slim subset: NCIthesaurus xref: MESH:D030342 xref: NCI:C3101 xref: SNOMEDCT_US_2023_03_01:32895009 xref: UMLS_CUI:C0019247 is_a: DOID:4 ! disease [Term] id: DOID:6301 name: obsolete prostate basal cell carcinoma synonym: "basal cell carcinoma of the prostate" RELATED [] is_obsolete: true [Term] id: DOID:6307 name: ectopic thymus subset: NCIthesaurus xref: NCI:C27804 xref: UMLS_CUI:C1333375 is_a: DOID:533 ! thymus gland disease [Term] id: DOID:6308 name: obsolete metastatic transitional cell cancer of the renal pelvis and ureter synonym: "metastatic Urothelial carcinoma of the renal Pelvis and Ureter" EXACT [] is_obsolete: true [Term] id: DOID:631 name: fibromyalgia def: "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression." [url:https\://pubmed.ncbi.nlm.nih.gov/30486733/, url:https\://pubmed.ncbi.nlm.nih.gov/32120395/, url:https\://pubmed.ncbi.nlm.nih.gov/33024295/, url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7660651/] subset: NCIthesaurus xref: ICD10CM:M79.7 xref: MESH:D005356 xref: NCI:C87497 xref: SNOMEDCT_US_2023_03_01:1304004 xref: UMLS_CUI:C0016053 is_a: DOID:225 ! syndrome [Term] id: DOID:6312 name: clivus chordoma def: "A chordoma of skull base that is located in the clivus." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1656331/] subset: NCIthesaurus synonym: "Chordoma of Clivus" EXACT [] xref: NCI:C5412 xref: SNOMEDCT_US_2023_03_01:446939001 xref: UMLS_CUI:C1333071 is_a: DOID:4151 ! skull base chordoma [Term] id: DOID:6313 name: clivus chondroid chordoma def: "A chondroid chordoma and chordoma of the clivus that is located_in the clivus." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/] subset: NCIthesaurus synonym: "Chondroid Chordoma of the Clivus" EXACT [] xref: NCI:C5426 xref: UMLS_CUI:C1333072 is_a: DOID:6312 ! clivus chordoma [Term] id: DOID:6314 name: ovarian fetiform teratoma def: "A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28446797] subset: NCIthesaurus xref: NCI:C39996 xref: UMLS_CUI:C1518715 is_a: DOID:6231 ! mature teratoma of the ovary [Term] id: DOID:6315 name: ovarian solid teratoma def: "A mature teratoma of the ovary that is predominantly solid with interspersed cysts." [url:https\://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475, url:https\://www.ncbi.nlm.nih.gov/pubmed/27636886] subset: NCIthesaurus xref: NCI:C7285 xref: UMLS_CUI:C1335181 is_a: DOID:6231 ! mature teratoma of the ovary [Term] id: DOID:6316 name: Bartholin's gland adenocarcinoma def: "A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue." [url:https\://en.wikipedia.org/wiki/Adenocarcinoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/7272963] subset: NCIthesaurus synonym: "adenocarcinoma of bartholin's gland" RELATED [] synonym: "adenocarcinoma of the Bartholin's gland" EXACT [] synonym: "Bartholin gland adenocarcinoma" EXACT [] xref: NCI:C7719 xref: UMLS_CUI:C0238016 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3999 ! Bartholin's gland carcinoma [Term] id: DOID:6322 name: tibial adamantinoma def: "An adamantinoma of long bone that is located_in the tibia." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30210255] subset: NCIthesaurus synonym: "Tibial adamantinoma morphology" EXACT [] xref: NCI:C8461 xref: SNOMEDCT_US_2023_03_01:210233007 xref: UMLS_CUI:C1273017 is_a: DOID:2775 ! long bone adamantinoma [Term] id: DOID:6327 name: obsolete ovarian dermoid cyst with adenocarcinoma is_obsolete: true [Term] id: DOID:6328 name: obsolete ovarian dermoid cyst with secondary carcinoma is_obsolete: true [Term] id: DOID:6329 name: obsolete ovarian dermoid cyst with secondary tumor is_obsolete: true [Term] id: DOID:633 name: myositis def: "A myopathy characterized by muscle inflammation." [url:http\://www.nlm.nih.gov/medlineplus/myositis.html, url:https\://en.wikipedia.org/wiki/Myositis] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Inflammatory disorder of muscle" EXACT [] xref: ICD10CM:M60 xref: MESH:D009220 xref: MIM:160750 xref: NCI:C27578 xref: SNOMEDCT_US_2023_03_01:26889001 xref: UMLS_CUI:C0027121 is_a: DOID:423 ! myopathy [Term] id: DOID:6331 name: immature teratoma of ovary def: "A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26142911] subset: NCIthesaurus synonym: "malignant teratoma of Ovary" EXACT [] xref: NCI:C8111 xref: SNOMEDCT_US_2023_03_01:254871000 xref: UMLS_CUI:C0346182 is_a: DOID:2155 ! malignant ovarian germ cell neoplasm [Term] id: DOID:6332 name: adult malignant hemangiopericytoma subset: NCIthesaurus xref: NCI:C7946 xref: UMLS_CUI:C0279547 is_a: DOID:264 ! hemangiopericytoma [Term] id: DOID:6333 name: adult intracranial malignant hemangiopericytoma subset: NCIthesaurus synonym: "adult malignant intracranial hemangiopericytoma" EXACT [] xref: NCI:C9183 xref: UMLS_CUI:C1334558 is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:6334 name: anterior optic tract meningioma subset: NCIthesaurus xref: NCI:C7538 xref: UMLS_CUI:C1332308 is_a: DOID:3419 ! optic nerve neoplasm is_a: DOID:3565 ! meningioma [Term] id: DOID:6335 name: bilateral meningioma of optic nerve subset: NCIthesaurus synonym: "Bilateral meningioma of the optic nerve" EXACT [] xref: MESH:C000608854 xref: NCI:C5304 xref: UMLS_CUI:C1332551 is_a: DOID:3419 ! optic nerve neoplasm is_a: DOID:3565 ! meningioma [Term] id: DOID:6337 name: cerebellopontine angle meningioma subset: NCIthesaurus synonym: "meningioma of the Cerebellar Pontine Angle" EXACT [] xref: NCI:C5300 xref: SNOMEDCT_US_2023_03_01:126948004 xref: UMLS_CUI:C1263882 is_a: DOID:0060106 ! brain meningioma is_a: DOID:3200 ! cerebellopontine angle tumor [Term] id: DOID:6338 name: obsolete testicular tumor of the thecoma fibroma group is_obsolete: true [Term] id: DOID:6339 name: vulvar eccrine adenocarcinoma def: "A vulva adenocarcinoma that has_material_basis_in eccrine glands." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27832810] subset: NCIthesaurus xref: NCI:C40305 is_a: DOID:2098 ! vulva adenocarcinoma [Term] id: DOID:6344 name: melanotic psammomatous malignant peripheral nerve sheath tumor subset: NCIthesaurus synonym: "melanocytic psammomatous MPNST" EXACT [] xref: NCI:C6910 xref: SNOMEDCT_US_2023_03_01:19897006 xref: UMLS_CUI:C1321709 is_a: DOID:6345 ! malignant melanocytic neoplasm of the peripheral nerve sheath [Term] id: DOID:6345 name: malignant melanocytic neoplasm of the peripheral nerve sheath subset: NCIthesaurus synonym: "melanocytic MPNST" EXACT [] synonym: "Melanotic malignant nerve sheath tumor" EXACT [] synonym: "Melanotic malignant peripheral nerve sheath tumor" EXACT [] synonym: "Melanotic malignant peripheral nerve sheath tumour" EXACT [] xref: NCI:C4748 xref: SNOMEDCT_US_2023_03_01:404039004 xref: UMLS_CUI:C0474847 is_a: DOID:5940 ! malignant peripheral nerve sheath tumor [Term] id: DOID:635 name: acquired immunodeficiency syndrome def: "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS." [url:http\://en.wikipedia.org/wiki/AIDS, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aids] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "acquired Immune deficiency" EXACT [] synonym: "acquired immune deficiency syndrome" RELATED [] synonym: "AIDS" EXACT OMO:0003012 [] xref: EFO:0000765 xref: ICD10CM:B20 xref: MESH:D000163 xref: NCI:C2851 xref: SNOMEDCT_US_2023_03_01:62479008 xref: UMLS_CUI:C0001175 is_a: DOID:526 ! human immunodeficiency virus infectious disease property_value: exactMatch "MESH:D000163" xsd:string [Term] id: DOID:6354 name: chronic lymphocytic leukemia/small lymphocytic lymphoma def: "A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes." [url:http\://www.cancer.gov/dictionary?CdrID=641291, url:https\://lymphoma.org/aboutlymphoma/cll/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "B-cell lymphocytic leukemia/small lymphocytic lymphoma" EXACT [] synonym: "CLL/SLL" EXACT OMO:0003012 [] xref: ICDO:9823/3 xref: NCI:C27911 xref: SNOMEDCT_US_2023_03_01:399607007 xref: UMLS_CUI:C1302547 is_a: DOID:1040 ! chronic lymphocytic leukemia [Term] id: DOID:636 name: central pontine myelinolysis def: "A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria." [url:https\://en.wikipedia.org/wiki/Central_pontine_myelinolysis, url:https\://pubmed.ncbi.nlm.nih.gov/25220878/] subset: DO_rare_slim subset: NCIthesaurus synonym: "osmotic demyelination syndrome" EXACT [] xref: GARD:8749 xref: ICD10CM:G37.2 xref: MESH:D017590 xref: NCI:C84623 xref: SNOMEDCT_US_2023_03_01:6807001 xref: UMLS_CUI:C0206083 is_a: DOID:3213 ! demyelinating disease [Term] id: DOID:6361 name: obsolete renal cell carcinoma with constitutional chromosome 3 translocations is_obsolete: true [Term] id: DOID:6364 name: migraine alt_id: DOID:12437 def: "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing." [url:http\://en.wikipedia.org/wiki/Migraine, url:http\://www.mayoclinic.com/health/migraine-headache/DS00120] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "migraine disorder" EXACT [] synonym: "migraine variant" EXACT [] synonym: "migraine with or without aura" EXACT [] xref: ICD10CM:G43 xref: ICD9CM:346 xref: MESH:D008881 xref: MIM:157300 xref: NCI:C89715 xref: SNOMEDCT_US_2023_03_01:155046006 xref: SNOMEDCT_US_2023_03_01:193036004 xref: UMLS_CUI:C0042331 xref: UMLS_CUI:C0149931 is_a: DOID:936 ! brain disease [Term] id: DOID:6367 name: acral lentiginous melanoma def: "A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes." [url:http\://en.wikipedia.org/wiki/Acral_lentiginous_melanoma, url:http\://en.wikipedia.org/wiki/Lentigo, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1352575/] subset: DO_cancer_slim subset: DO_rare_slim synonym: "acral lentiginous melanoma, malignant" EXACT [] synonym: "malignant acral lentiginous melanoma" EXACT [] xref: GARD:9570 is_a: DOID:8923 ! skin melanoma [Term] id: DOID:637 name: obsolete metabolic brain disease synonym: "Metabolic encephalopathy" EXACT [] synonym: "Metabolic encephalopathy (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:6370 name: hepatic osteogenic sarcoma subset: NCIthesaurus synonym: "Osteosarcoma of Liver" EXACT [] xref: NCI:C5833 xref: UMLS_CUI:C1333974 is_a: DOID:3571 ! liver cancer [Term] id: DOID:6376 name: hypersplenism subset: NCIthesaurus synonym: "hypersplenia" EXACT [] xref: ICD10CM:D73.1 xref: ICD9CM:289.4 xref: MESH:D006971 xref: NCI:C34714 xref: SNOMEDCT_US_2023_03_01:154839008 xref: UMLS_CUI:C0020532 is_a: DOID:2529 ! splenic disease [Term] id: DOID:6379 name: diffuse meningeal melanocytosis def: "A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges." [url:https\://radiopaedia.org/articles/meningeal-melanocytosis?lang=us] subset: DO_rare_slim subset: NCIthesaurus synonym: "Diffuse melanocytosis" EXACT [] synonym: "Diffuse Melanosis" EXACT [] synonym: "Meningeal melanocytosis" EXACT [] xref: ICDO:8728/0 xref: NCI:C6890 xref: ORDO:252031 xref: SNOMEDCT_US_2023_03_01:128729004 xref: UMLS_CUI:C1266112 is_a: DOID:4955 ! central nervous system melanocytic neoplasm [Term] id: DOID:638 name: obsolete demyelinating disease of central nervous system is_obsolete: true [Term] id: DOID:6381 name: anterior foramen magnum meningioma subset: NCIthesaurus synonym: "meningioma of the Anterior Foramen Magnum" EXACT [] xref: NCI:C5281 xref: UMLS_CUI:C1332302 is_a: DOID:4708 ! foramen magnum meningioma [Term] id: DOID:6382 name: obsolete recurrent childhood glioma of brain stem synonym: "relapsed pediatric glioma of Brainstem" EXACT [] is_obsolete: true [Term] id: DOID:6383 name: childhood brain stem glioma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "pediatric glioma of the Brainstem" EXACT [] xref: GARD:9306 xref: NCI:C9042 xref: UMLS_CUI:C0278600 is_a: DOID:4206 ! childhood brain stem neoplasm [Term] id: DOID:6384 name: obsolete recurrent childhood central nervous system tumor is_obsolete: true [Term] id: DOID:6385 name: obsolete recurrent childhood brainstem astrocytoma is_obsolete: true [Term] id: DOID:6386 name: childhood brainstem astrocytoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: NCI:C6216 xref: UMLS_CUI:C1332950 is_a: DOID:6383 ! childhood brain stem glioma [Term] id: DOID:639 name: acute disseminated encephalomyelitis def: "An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection." [url:http\://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis, url:http\://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm] subset: DO_rare_slim subset: NCIthesaurus synonym: "acute disseminated encephalitis" EXACT [] synonym: "ADEM" EXACT OMO:0003012 [] xref: GARD:8639 xref: MESH:D004673 xref: NCI:C34578 xref: SNOMEDCT_US_2023_03_01:83942000 xref: UMLS_CUI:C0014059 is_a: DOID:640 ! encephalomyelitis [Term] id: DOID:64 name: obsolete epithelial tissue disease is_obsolete: true [Term] id: DOID:640 name: encephalomyelitis subset: NCIthesaurus synonym: "Encephalitis &/or myelitis" EXACT [] xref: MESH:D004679 xref: NCI:C34580 xref: SNOMEDCT_US_2023_03_01:154991009 xref: UMLS_CUI:C0014070 is_a: DOID:331 ! central nervous system disease property_value: exactMatch "MESH:D004679" xsd:string [Term] id: DOID:6404 name: metanephric adenoma subset: NCIthesaurus xref: ICDO:8325/0 xref: NCI:C27253 xref: SNOMEDCT_US_2023_03_01:128670007 xref: UMLS_CUI:C1266045 is_a: DOID:2697 ! renal adenoma [Term] id: DOID:6405 name: ovarian papillary cystadenoma def: "An ovarian cystadenoma that is characterized by the presence of finger-like projections." [url:https\://www.sciencedirect.com/science/article/pii/S0002961041905159] subset: NCIthesaurus xref: NCI:C7278 xref: UMLS_CUI:C1335175 is_a: DOID:6214 ! ovarian papillary neoplasm [Term] id: DOID:6406 name: double outlet right ventricle comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Dextrotransposition of aorta" EXACT [] synonym: "Double outlet right ventricle with subpulmonary ventricular septal defect" EXACT [] synonym: "Taussig-Bing syndrome or defect" EXACT [] xref: GARD:1908 xref: ICD10CM:Q20.1 xref: ICD9CM:745.11 xref: MESH:D004310 xref: MIM:217095 xref: NCI:C98916 xref: ORDO:3426 xref: SNOMEDCT_US_2023_03_01:7484005 xref: UMLS_CUI:C0013069 is_a: DOID:1657 ! ventricular septal defect [Term] id: DOID:6407 name: ovarian surface papilloma def: "An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary." [url:https\://www.ncbi.nlm.nih.gov/pubmed/439088] subset: NCIthesaurus xref: NCI:C7279 xref: UMLS_CUI:C1335183 is_a: DOID:6214 ! ovarian papillary neoplasm [Term] id: DOID:6408 name: ovary papillary carcinoma def: "An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells." [url:https\://acsjournals.onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171, url:https\://www.ncbi.nlm.nih.gov/pubmed/7185762] subset: NCIthesaurus synonym: "serous Surface Papillary carcinoma of Ovary" EXACT [] xref: NCI:C6256 xref: UMLS_CUI:C1335178 is_a: DOID:4001 ! ovarian carcinoma [Term] id: DOID:641 name: obsolete CNS demyelinating autoimmune disease is_obsolete: true [Term] id: DOID:6419 name: tetralogy of Fallot comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle" EXACT [] xref: GARD:2245 xref: ICD10CM:Q21.3 xref: ICD9CM:745.2 xref: MESH:D013771 xref: MIM:187500 xref: NCI:C84505 xref: SNOMEDCT_US_2023_03_01:156913009 xref: UMLS_CUI:C0039685 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:642 name: obsolete demyelinating encephalopathy is_obsolete: true [Term] id: DOID:6420 name: pulmonary valve stenosis subset: DO_rare_slim xref: GARD:4596 xref: MESH:D011666 xref: MIM:265500 xref: SNOMEDCT_US_2023_03_01:56786000 xref: UMLS_CUI:C0034089 is_a: DOID:5749 ! pulmonary valve disease [Term] id: DOID:6423 name: childhood central nervous system mature teratoma subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: NCI:C27404 xref: UMLS_CUI:C1332955 is_a: DOID:6017 ! central nervous system mature teratoma [Term] id: DOID:6424 name: obsolete pediatric CNS teratoma synonym: "pediatric teratoma of central nervous system" EXACT [] is_obsolete: true [Term] id: DOID:6425 name: eyelid carcinoma subset: NCIthesaurus synonym: "carcinoma of the eyelid" EXACT [] xref: NCI:C6078 xref: UMLS_CUI:C0920196 is_a: DOID:3451 ! skin carcinoma is_a: DOID:530 ! eyelid disease [Term] id: DOID:6428 name: cervical adenoid basal carcinoma def: "A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small,\nwell differentiated, rounded nests of basaloid cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10872669, url:https\://www.ncbi.nlm.nih.gov/pubmed/25207054] subset: NCIthesaurus xref: NCI:C40213 xref: SNOMEDCT_US_2023_03_01:763063001 xref: UMLS_CUI:C1516403 is_a: DOID:2893 ! cervix carcinoma [Term] id: DOID:643 name: progressive multifocal leukoencephalopathy def: "A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma." [url:http\://www.merck.com/mmpe/sec16/ch217/ch217f.html, url:http\://www.merriam-webster.com/medical/progressive%20multifocal%20leukoencephalopathy, url:http\://www.ninds.nih.gov/disorders/pml/pml.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "PML" RELATED OMO:0003012 [] xref: GARD:7468 xref: ICD10CM:A81.2 xref: ICD9CM:046.3 xref: MESH:D007968 xref: NCI:C26815 xref: SNOMEDCT_US_2023_03_01:22255007 xref: UMLS_CUI:C0023524 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:6432 name: pulmonary hypertension def: "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries." [url:https\://en.wikipedia.org/wiki/Pulmonary_hypertension, url:https\://www.ncbi.nlm.nih.gov/pubmed/19555858] subset: NCIthesaurus xref: ICD10CM:I27.20 xref: MESH:D006976 xref: NCI:C3120 xref: SNOMEDCT_US_2023_03_01:155328008 xref: UMLS_CUI:C0020542 is_a: DOID:10763 ! hypertension [Term] id: DOID:6438 name: malignant choroid melanoma subset: NCIthesaurus synonym: "malignant melanoma of choroid" EXACT [] synonym: "melanoma of the Choroid" EXACT [] xref: NCI:C4561 xref: SNOMEDCT_US_2023_03_01:255021005 xref: UMLS_CUI:C0346388 is_a: DOID:12759 ! choroid cancer [Term] id: DOID:644 name: obsolete leukoencephalopathy synonym: "Leukoencephalopathy (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:6445 name: ovarian endometrioid malignant adenofibroma subset: NCIthesaurus xref: NCI:C40060 xref: UMLS_CUI:C1518711 is_a: DOID:6170 ! ovarian carcinosarcoma [Term] id: DOID:6446 name: ceruminous adenocarcinoma subset: NCIthesaurus xref: ICDO:8420/3 xref: NCI:C4176 xref: SNOMEDCT_US_2023_03_01:58069009 xref: UMLS_CUI:C0334353 is_a: DOID:4933 ! apocrine carcinoma [Term] id: DOID:6447 name: obsolete ceruminous tumor is_obsolete: true [Term] id: DOID:6448 name: vulvar apocrine adenocarcinoma def: "A vulva adenocarcinoma that has_material_basis_in apocrine glands." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24179652] subset: NCIthesaurus xref: NCI:C40308 is_a: DOID:2098 ! vulva adenocarcinoma [Term] id: DOID:6451 name: central nervous system fibrosarcoma subset: NCIthesaurus synonym: "Fibrosarcoma of the CNS" EXACT [] xref: NCI:C5465 xref: UMLS_CUI:C1332879 is_a: DOID:2133 ! central nervous system sarcoma is_a: DOID:3355 ! fibrosarcoma [Term] id: DOID:6457 name: Cowden syndrome alt_id: DOID:3471 def: "A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium." [url:http\://en.wikipedia.org/wiki/Cowden_syndrome, url:http\://ghr.nlm.nih.gov/condition/cowden-syndrome, url:http\://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/1] comment: Xref MGI. OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Cowden disease" EXACT [] synonym: "dysplastic Gangliocytoma of Cerebellum" EXACT [] synonym: "Lhermitte-Duclos disease" EXACT [] synonym: "multiple hamartoma syndrome" RELATED [] xref: GARD:6202 xref: ICDO:9493/0 xref: MESH:D006223 xref: MIM:PS158350 xref: NCI:C3076 xref: NCI:C8419 xref: ORDO:201 xref: SNOMEDCT_US_2023_03_01:58037000 xref: SNOMEDCT_US_2023_03_01:67944007 xref: UMLS_CUI:C0018553 xref: UMLS_CUI:C0391826 is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome [Term] id: DOID:6458 name: cerebellar liponeurocytoma def: "A cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation." [url:https\://pubmed.ncbi.nlm.nih.gov/33964714/] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Lipomatous Medulloblastoma" EXACT [] xref: GARD:10642 xref: ICDO:9506/1 xref: NCI:C6905 xref: SNOMEDCT_US_2023_03_01:734134003 xref: UMLS_CUI:C1370507 is_a: DOID:4205 ! cerebellum cancer [Term] id: DOID:6459 name: rectal lipoma def: "A rectal benign neoplasm that has_material_basis_in fat tissue." [url:https\://pubmed.ncbi.nlm.nih.gov/22084744/] subset: NCIthesaurus synonym: "lipoma of the rectum" EXACT [] xref: NCI:C5551 xref: UMLS_CUI:C1335684 is_a: DOID:1984 ! rectal benign neoplasm is_a: DOID:3315 ! lipoma [Term] id: DOID:646 name: viral encephalitis alt_id: DOID:10248 alt_id: DOID:10249 alt_id: DOID:10839 def: "An encephalitis that involves inflammation of the brain caused by viral infection." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/14978145] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "epidemic encephalitis" EXACT [] xref: MESH:D004671 xref: NCI:C34576 xref: SNOMEDCT_US_2023_03_01:68197003 xref: UMLS_CUI:C0014055 is_a: DOID:934 ! viral infectious disease is_a: DOID:9588 ! encephalitis [Term] id: DOID:6460 name: large intestine lipoma def: "An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24950559] subset: NCIthesaurus synonym: "Lipoma of large Intestine" EXACT [] xref: NCI:C5678 xref: SNOMEDCT_US_2023_03_01:1196824005 xref: UMLS_CUI:C1333114 is_a: DOID:3315 ! lipoma is_a: DOID:4610 ! intestinal benign neoplasm [Term] id: DOID:6467 name: obsolete bone recurrent Ewing's sarcoma is_obsolete: true [Term] id: DOID:6468 name: mucinous cystadenofibroma def: "A cystadenofibroma that is characterized by the presence of mucin." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23297622] subset: NCIthesaurus xref: NCI:C8979 xref: SNOMEDCT_US_2023_03_01:10705005 xref: UMLS_CUI:C1377844 is_a: DOID:5482 ! cystadenofibroma [Term] id: DOID:6469 name: ovarian mucinous adenofibroma def: "An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1996729] subset: NCIthesaurus xref: NCI:C40040 xref: UMLS_CUI:C1518723 is_a: DOID:0060112 ! ovarian benign neoplasm [Term] id: DOID:647 name: obsolete Polyomavirus infectious disease def: "A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer." [url:http\://en.wikipedia.org/wiki/Polyomavirus] is_obsolete: true [Term] id: DOID:6474 name: childhood teratocarcinoma of the testis subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric testicular Teratocarcinoma" EXACT [] xref: NCI:C6539 xref: UMLS_CUI:C1333008 is_a: DOID:6161 ! childhood testicular mixed germ cell tumor [Term] id: DOID:6476 name: clear cell variant infiltrating bladder urothelial carcinoma subset: NCIthesaurus xref: NCI:C39827 xref: UMLS_CUI:C1512737 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma [Term] id: DOID:6477 name: invasive bladder transitional cell carcinoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Invasive bladder Urothelial carcinoma" EXACT [] xref: NCI:C27885 xref: UMLS_CUI:C1334281 is_a: DOID:4006 ! bladder urothelial carcinoma [Term] id: DOID:648 name: kuru subset: DO_infectious_disease_slim subset: DO_rare_slim synonym: "kuru encephalopathy" EXACT [] xref: GARD:7617 xref: ICD10CM:A81.81 xref: ICD9CM:046.0 xref: MESH:D007729 xref: SNOMEDCT_US_2023_03_01:192684001 xref: UMLS_CUI:C0022802 is_a: DOID:649 ! prion disease [Term] id: DOID:6481 name: bladder signet ring cell adenocarcinoma subset: NCIthesaurus synonym: "signet ring cell adenocarcinoma of bladder" RELATED [] synonym: "urinary bladder Signet Ring adenocarcinoma" EXACT [] xref: NCI:C6163 xref: UMLS_CUI:C1332563 is_a: DOID:3711 ! bladder adenocarcinoma [Term] id: DOID:6482 name: lung acinar adenocarcinoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "acinar adenocarcinoma of the lung" EXACT [] xref: NCI:C5649 xref: UMLS_CUI:C1332137 is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:6483 name: rete testis adenoma def: "A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10320920] subset: NCIthesaurus xref: NCI:C39956 xref: UMLS_CUI:C1514910 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:6484 name: mediastinal melanocytic neurilemmoma subset: NCIthesaurus synonym: "melanocytic Schwannoma of mediastinum" EXACT [] xref: NCI:C6635 xref: UMLS_CUI:C1334668 is_a: DOID:3205 ! melanotic neurilemmoma [Term] id: DOID:6488 name: obsolete metastatic tumor to the iris is_obsolete: true [Term] id: DOID:6489 name: periosteal osteogenic sarcoma subset: NCIthesaurus synonym: "periosteal osteosarcoma" EXACT [] xref: NCI:C8970 xref: SNOMEDCT_US_2023_03_01:91242000 xref: UMLS_CUI:C1377843 is_a: DOID:3374 ! peripheral osteosarcoma [Term] id: DOID:649 name: prion disease def: "A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins." [url:http\://en.wikipedia.org/wiki/Prion, url:http\://www.cdc.gov/ncidod/dvrd/prions/] subset: DO_FlyBase_slim subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Prion disease pathway" EXACT [] synonym: "prion induced disorder" EXACT [] synonym: "Prion protein disease" EXACT [] synonym: "Spongiform Encephalopathy" EXACT [] synonym: "transmissible spongiform encephalopathy" EXACT [] xref: ICD10CM:A81.9 xref: KEGG:05020 xref: MESH:D017096 xref: NCI:C128346 xref: SNOMEDCT_US_2023_03_01:20484008 xref: UMLS_CUI:C0162534 is_a: DOID:0050117 ! disease by infectious agent is_a: DOID:936 ! brain disease [Term] id: DOID:6491 name: breast capillary hemangioma def: "A breast hemangioma that is characterized by capillary-sized vessels." [url:http\://www.pathologyoutlines.com/topic/breasthemangioma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/26687640] subset: NCIthesaurus synonym: "Capillary Angioma of breast" EXACT [] xref: NCI:C5210 xref: UMLS_CUI:C1332619 is_a: DOID:476 ! breast hemangioma [Term] id: DOID:6492 name: breast epithelioid hemangioma def: "A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351506/] subset: NCIthesaurus synonym: "breast Histiocytoid hemangioma" EXACT [] xref: NCI:C5211 xref: UMLS_CUI:C1332627 is_a: DOID:476 ! breast hemangioma [Term] id: DOID:6494 name: childhood myxoid chondrosarcoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric myxoid chondrosarcoma" EXACT [] xref: NCI:C27377 xref: UMLS_CUI:C1332984 is_a: DOID:5861 ! myxoid chondrosarcoma [Term] id: DOID:6495 name: obsolete adult myxoid chondrosarcoma def: "An adult sarcoma of soft tissue and myxoid chondrosarcoma that is composed_of multiple lobules of chondroblast-like cells, arranged in cords and strands, embedded in a myxoid stroma, and separated by fibrous septa." [url:https\://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/myxoid-chondrosarcoma] is_obsolete: true [Term] id: DOID:6496 name: obsolete extraskeletal myxoid chondrosarcoma def: "An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix." [url:http\://en.wikipedia.org/wiki/Chondrosarcoma, url:http\://en.wikipedia.org/wiki/Myxoid_chondrosarcoma, url:http\://en.wikipedia.org/wiki/Myxoid_tumor, url:https\://www.ncbi.nlm.nih.gov/pubmed/10564384] comment: OMIM mapping confirmed by DO. [SN]. is_obsolete: true [Term] id: DOID:6498 name: seborrheic keratosis comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:3108 xref: ICD10CM:L82 xref: ICD9CM:702.1 xref: MESH:D017492 xref: MIM:182000 xref: NCI:C9006 xref: SNOMEDCT_US_2023_03_01:201096007 xref: UMLS_CUI:C0022603 is_a: DOID:161 ! keratosis is_a: DOID:174 ! acanthoma is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:65 name: connective tissue disease def: "A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage." [url:http\://www.niams.nih.gov/Health_Info/Scleroderma/default.asp] subset: NCIthesaurus synonym: "connective tissue disorder" EXACT [] synonym: "disorder of connective tissue" EXACT [] xref: MESH:D003240 xref: NCI:C26729 xref: SNOMEDCT_US_2023_03_01:201432001 xref: UMLS_CUI:C0009782 is_a: DOID:17 ! musculoskeletal system disease [Term] id: DOID:6500 name: cerebellar angioblastoma subset: NCIthesaurus synonym: "Hemangioblastoma of Cerebellum" EXACT [] xref: NCI:C5146 xref: UMLS_CUI:C1332900 is_a: DOID:0050687 ! cell type cancer is_a: DOID:4205 ! cerebellum cancer [Term] id: DOID:6501 name: brain stem angioblastoma def: "A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells." [url:https\://en.wikipedia.org/wiki/Hemangioblastoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/19787293] subset: NCIthesaurus synonym: "Hemangioblastoma of Brainstem" EXACT [] xref: NCI:C5147 xref: UMLS_CUI:C1332611 is_a: DOID:0050687 ! cell type cancer is_a: DOID:4203 ! brain stem cancer [Term] id: DOID:6505 name: vaginal spindle cell epithelioma def: "A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782956/] subset: NCIthesaurus xref: NCI:C40280 xref: UMLS_CUI:C1511107 is_a: DOID:135 ! benign vaginal carcinosarcoma [Term] id: DOID:6506 name: obsolete anaplastic seminoma synonym: "Seminoma with high mitotic index" EXACT [] synonym: "testicular Seminoma with High Mitotic Index" EXACT [] is_obsolete: true [Term] id: DOID:6510 name: lung occult squamous cell carcinoma subset: NCIthesaurus synonym: "occult squamous cell carcinoma of lung" RELATED [] synonym: "Occult squamous cell carcinoma of the lung" EXACT [] xref: NCI:C6686 xref: UMLS_CUI:C1335100 is_a: DOID:3907 ! lung squamous cell carcinoma [Term] id: DOID:6511 name: glandular pattern ovarian yolk sac tumor def: "An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25395492] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C39988 xref: UMLS_CUI:C1518747 is_a: DOID:5350 ! ovarian endodermal sinus tumor [Term] id: DOID:6512 name: hepatoid pattern ovarian yolk sac tumor def: "An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile." [url:http\://www.pathologyoutlines.com/topic/ovarytumoryolksac.html] subset: NCIthesaurus xref: NCI:C39989 xref: UMLS_CUI:C1518748 is_a: DOID:5350 ! ovarian endodermal sinus tumor [Term] id: DOID:6514 name: polyvesicular vitelline pattern ovarian yolk sac tumor def: "An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma." [url:http\://www.pathologyoutlines.com/topic/ovarytumoryolksac.html] subset: NCIthesaurus xref: NCI:C39987 xref: UMLS_CUI:C1518749 is_a: DOID:5350 ! ovarian endodermal sinus tumor [Term] id: DOID:6517 name: clivus meningioma subset: NCIthesaurus synonym: "meningioma of the Clivus" EXACT [] xref: NCI:C5289 xref: UMLS_CUI:C1333073 is_a: DOID:4211 ! posterior fossa meningioma is_a: DOID:4437 ! skull base meningioma [Term] id: DOID:6518 name: Bartholin's gland adenomyoma def: "A Bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9785128] subset: NCIthesaurus synonym: "Bartholin gland adenomyoma" EXACT [] xref: NCI:C40300 xref: UMLS_CUI:C1511049 is_a: DOID:2068 ! Bartholin's gland benign neoplasm is_a: DOID:60002 ! Bartholin's gland disease [Term] id: DOID:652 name: obsolete congenital musculoskeletal abnormality synonym: "Congenital malformation and deformation of the musculoskeletal system (disorder)" EXACT [] synonym: "Congenital malformations and deformations of the musculoskeletal system (disorder)" EXACT [] synonym: "Congenital musculoskeletal anomalies NOS" EXACT [] synonym: "Congenital musculoskeletal anomalies NOS (disorder)" EXACT [] synonym: "congenital musculoskeletal anomaly" EXACT [] synonym: "Congenital musculoskeletal deformities" EXACT [] synonym: "Congenital musculoskeletal deformity NOS (disorder)" EXACT [] synonym: "Skeletal anomaly-congen" EXACT [] is_obsolete: true [Term] id: DOID:6522 name: mixed cell uveal melanoma subset: NCIthesaurus xref: NCI:C35781 xref: UMLS_CUI:C1334782 is_a: DOID:6039 ! uveal melanoma [Term] id: DOID:6523 name: ciliary body mixed cell melanoma subset: NCIthesaurus xref: NCI:C35783 xref: UMLS_CUI:C1333051 is_a: DOID:4352 ! ciliary body cancer is_a: DOID:6522 ! mixed cell uveal melanoma [Term] id: DOID:6524 name: malignant ciliary body melanoma subset: NCIthesaurus synonym: "malignant melanoma of ciliary body" EXACT [] synonym: "melanoma of the Ciliary body" EXACT [] xref: NCI:C4558 xref: SNOMEDCT_US_2023_03_01:255015006 xref: UMLS_CUI:C0346379 is_a: DOID:4352 ! ciliary body cancer [Term] id: DOID:6525 name: choroid mixed cell melanoma subset: NCIthesaurus xref: NCI:C35782 xref: UMLS_CUI:C1333025 is_a: DOID:6438 ! malignant choroid melanoma [Term] id: DOID:653 name: purine-pyrimidine metabolic disorder def: "An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism." [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_purine-pyrimidine_metabolism] synonym: "inborn errors of purine-pyrimidine metabolism" EXACT [] xref: ICD10CM:E79.8 xref: ICD9CM:277.2 xref: SNOMEDCT_US_2023_03_01:190917005 xref: UMLS_CUI:C0029595 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:6530 name: thymoma type B2 def: "A thymoma type B that is characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964105/] subset: NCIthesaurus synonym: "cortical thymoma" EXACT [] synonym: "Polygonal cell Thymoma" EXACT [] synonym: "Thymoma, cortical" EXACT [] xref: NCI:C6888 xref: SNOMEDCT_US_2023_03_01:128713007 xref: UMLS_CUI:C1266095 is_a: DOID:3282 ! thymoma type B [Term] id: DOID:6532 name: obsolete monomorphic B-cell PTLD is_obsolete: true [Term] id: DOID:6533 name: obsolete monomorphic PTLD is_obsolete: true [Term] id: DOID:6535 name: obsolete plasma cell PTLD is_obsolete: true [Term] id: DOID:6536 name: plasma cell neoplasm def: "A mature B-cell neoplasm that is composed of plasma cells." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4665] synonym: "Plasma cell dyscrasia" EXACT [] synonym: "Plasma cell tumour" EXACT [] synonym: "Plasmacytic tumor" EXACT [] xref: EFO:0000200 xref: MESH:D010265 xref: SNOMEDCT_US_2023_03_01:71390001 xref: UMLS_CUI:C1136084 is_a: DOID:706 ! mature B-cell neoplasm [Term] id: DOID:654 name: overnutrition def: "A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content." [url:https\://en.wikipedia.org/wiki/Overnutrition] comment: Updated outdated UMLS CUI. xref: MESH:D044343 xref: SNOMEDCT_US_2023_03_01:302872003 xref: UMLS_CUI:C1257763 is_a: DOID:374 ! nutrition disease [Term] id: DOID:6540 name: obsolete transient organic mental disorder is_obsolete: true [Term] id: DOID:6543 name: acne alt_id: DOID:9906 def: "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring." [url:http\://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance] synonym: "Acne varioliformis" EXACT [] synonym: "acne vulgaris" EXACT [] synonym: "frontalis acne" EXACT [] xref: ICD10CM:L70 xref: ICD10CM:L70.2 xref: ICD9CM:706.0 xref: MESH:D000152 xref: MIM:604324 xref: SNOMEDCT_US_2023_03_01:11381005 xref: SNOMEDCT_US_2023_03_01:201210008 xref: UMLS_CUI:C0152249 xref: UMLS_CUI:C0702166 is_a: DOID:9098 ! sebaceous gland disease [Term] id: DOID:6544 name: obsolete atypical meningioma synonym: "Atypical meningioma" EXACT [] synonym: "Atypical meningioma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:6545 name: obsolete adult atypical meningioma is_obsolete: true [Term] id: DOID:6546 name: obsolete secondary cardiac lymphoma synonym: "secondary Heart Lymphoma" EXACT [] is_obsolete: true [Term] id: DOID:6547 name: heart lymphoma subset: NCIthesaurus synonym: "Lymphoma of Heart" EXACT [] xref: NCI:C5368 xref: UMLS_CUI:C1332850 is_a: DOID:0060058 ! lymphoma is_a: DOID:117 ! heart cancer [Term] id: DOID:6548 name: angiomatous meningioma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9534/0 xref: MESH:D008579 xref: NCI:C4332 xref: SNOMEDCT_US_2023_03_01:73918009 xref: UMLS_CUI:C0334608 is_a: DOID:3565 ! meningioma [Term] id: DOID:6549 name: obsolete schistosoma hematobium-related bladder verrucous squamous cell carcinoma is_obsolete: true [Term] id: DOID:655 name: inherited metabolic disorder def: "A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality." [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_metabolism, url:http\://www.ncbi.nlm.nih.gov/mesh/68008659] subset: DO_MGI_slim subset: NCIthesaurus synonym: "Inborn Errors of Metabolism" EXACT [] synonym: "inborn metabolism disorder" EXACT [] synonym: "Metabolic hereditary disorder" EXACT [] xref: MESH:D008661 xref: NCI:C34816 xref: SNOMEDCT_US_2023_03_01:86095007 xref: UMLS_CUI:C0025521 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:630 ! genetic disease [Term] id: DOID:6552 name: gastric small cell carcinoma subset: NCIthesaurus synonym: "small cell carcinoma of stomach" EXACT [] xref: NCI:C6764 xref: UMLS_CUI:C1333788 is_a: DOID:5517 ! stomach carcinoma [Term] id: DOID:6553 name: posterior foramen magnum meningioma subset: NCIthesaurus synonym: "meningioma of the Posterior Foramen Magnum" EXACT [] xref: NCI:C5282 xref: UMLS_CUI:C1335449 is_a: DOID:4708 ! foramen magnum meningioma [Term] id: DOID:6554 name: ovarian clear cell malignant adenofibroma def: "An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6692303] subset: NCIthesaurus synonym: "ovarian clear cell adenocarcinofibroma" EXACT [] xref: NCI:C40079 is_a: DOID:2394 ! ovarian cancer [Term] id: DOID:6556 name: obsolete hamartoma of Spinal Cord synonym: "hamartoma of the Spinal Cord" EXACT [] is_obsolete: true [Term] id: DOID:6559 name: ethmoid sinus Schneiderian papilloma subset: NCIthesaurus synonym: "Schneiderian papilloma of the ethmoid sinus" EXACT [] xref: NCI:C6836 xref: UMLS_CUI:C1333476 is_a: DOID:1364 ! ethmoidal sinus benign neoplasm [Term] id: DOID:656 name: adrenal adenoma def: "An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland." [url:http\://en.wikipedia.org/wiki/Adrenal_adenoma] subset: DO_rare_slim synonym: "adenoma of the Adrenal gland" EXACT [] xref: GARD:5745 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:657 ! adenoma is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:6562 name: ethmoid sinus inverted papilloma subset: NCIthesaurus synonym: "Inverted papilloma of the ethmoid sinus" EXACT [] xref: NCI:C6843 xref: UMLS_CUI:C1333474 is_a: DOID:1364 ! ethmoidal sinus benign neoplasm is_a: DOID:2615 ! papilloma [Term] id: DOID:6563 name: obsolete metastatic testicular cancer is_obsolete: true [Term] id: DOID:6564 name: neurilemmoma of the pleura subset: NCIthesaurus synonym: "Schwannoma of Pleura" EXACT [] xref: NCI:C5418 xref: UMLS_CUI:C1335435 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:1532 ! pleural disease is_a: DOID:956 ! peripheral nerve schwannoma [Term] id: DOID:6566 name: posterior uveal melanoma alt_id: DOID:6746 subset: NCIthesaurus synonym: "medium/large size posterior uveal melanoma" EXACT [] synonym: "small size posterior uveal melanoma" EXACT [] xref: NCI:C9089 xref: NCI:C9090 xref: UMLS_CUI:C0278867 xref: UMLS_CUI:C0278868 is_a: DOID:6039 ! uveal melanoma [Term] id: DOID:6567 name: uterine corpus myxoid leiomyosarcoma def: "A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26866354] subset: NCIthesaurus xref: NCI:C40175 xref: UMLS_CUI:C1519861 is_a: DOID:5289 ! uterus leiomyosarcoma [Term] id: DOID:6569 name: micropapillomatosis labialis subset: NCIthesaurus xref: NCI:C40290 xref: UMLS_CUI:C1519982 is_a: DOID:2071 ! vulvar squamous papilloma [Term] id: DOID:657 name: adenoma alt_id: DOID:2655 def: "A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures." [url:http\://coloncancer.about.com/od/glossaries/g/Adenoma.htm, url:http\://en.wikipedia.org/wiki/Adenoma] subset: DO_RAD_slim subset: NCIthesaurus synonym: "acinar cell adenoma" EXACT [] synonym: "acinic cell adenoma" EXACT [] synonym: "adenomas" EXACT [] xref: ICDO:8140/0 xref: MESH:D000236 xref: NCI:C2855 xref: NCI:C4196 xref: SNOMEDCT_US_2023_03_01:443416007 xref: SNOMEDCT_US_2023_03_01:79041005 xref: UMLS_CUI:C0001430 xref: UMLS_CUI:C0334389 is_a: DOID:0060084 ! cell type benign neoplasm property_value: exactMatch "MESH:D000236" xsd:string [Term] id: DOID:6571 name: non-invasive bladder urothelial carcinoma is_a: DOID:4006 ! bladder urothelial carcinoma [Term] id: DOID:6573 name: obsolete recurrent adult brain tumor synonym: "relapsed tumor of adult brain" EXACT [] is_obsolete: true [Term] id: DOID:6574 name: obsolete Borderline malignancy papillary mucinous cystadenoma synonym: "Papillary mucinous cystadenoma, borderline malignancy (morphologic abnormality)" EXACT [] synonym: "Papillary mucinous neoplasm of Low malignant Potential" EXACT [] is_obsolete: true [Term] id: DOID:6575 name: childhood optic tract astrocytoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric visual pathway astrocytoma" EXACT [] xref: NCI:C7534 xref: UMLS_CUI:C1333014 is_a: DOID:4991 ! optic nerve astrocytoma [Term] id: DOID:6576 name: childhood optic nerve glioma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "glioma of the pediatric visual pathway" EXACT [] xref: MESH:D020339 xref: NCI:C7535 xref: UMLS_CUI:C0278653 is_a: DOID:4992 ! optic nerve glioma [Term] id: DOID:6577 name: obsolete ovarian dermoid cyst with sebaceous adenoma is_obsolete: true [Term] id: DOID:6578 name: obsolete ovarian dermoid cyst with secondary sebaceous tumor is_obsolete: true [Term] id: DOID:6579 name: chest wall bone cancer def: "A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10451260] subset: NCIthesaurus synonym: "malignant bone neoplasm of chest wall" RELATED [] synonym: "malignant bone tumor of the Chest Wall" EXACT [] xref: NCI:C6724 xref: UMLS_CUI:C1334572 is_a: DOID:184 ! bone cancer [Term] id: DOID:6581 name: breast apocrine carcinoma def: "A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders." [url:http\://surgpathcriteria.stanford.edu/breast/apocrinecabr/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23771415] subset: NCIthesaurus synonym: "apocrine carcinoma of breast" RELATED [] xref: NCI:C5141 xref: UMLS_CUI:C1332316 is_a: DOID:3458 ! breast adenocarcinoma [Term] id: DOID:6585 name: breast oncocytic carcinoma def: "A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria." [url:http\://surgpathcriteria.stanford.edu/breast/oncocyticcabr/printable.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/21111455] subset: NCIthesaurus synonym: "oncocytic breast carcinoma" EXACT [] xref: ICDO:8290/3 xref: NCI:C40366 xref: UMLS_CUI:C1518574 is_a: DOID:3458 ! breast adenocarcinoma [Term] id: DOID:6587 name: breast tubular carcinoma def: "A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893342/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "invasive tubular breast carcinoma" EXACT [] synonym: "Invasive tubular carcinoma of breast" EXACT [] synonym: "tubular carcinoma of breast" EXACT [] xref: ICDO:8211/3 xref: NCI:C9135 xref: UMLS_CUI:C1328544 is_a: DOID:3458 ! breast adenocarcinoma [Term] id: DOID:6590 name: spondylitis xref: ICD10CM:M46 xref: ICD9CM:720.8 xref: SNOMEDCT_US_2023_03_01:202651004 xref: UMLS_CUI:C0029644 is_a: DOID:1123 ! spondyloarthropathy property_value: exactMatch "MESH:D013166" xsd:string [Term] id: DOID:6594 name: bladder colonic type adenocarcinoma subset: NCIthesaurus xref: NCI:C39835 xref: UMLS_CUI:C1511188 is_a: DOID:3711 ! bladder adenocarcinoma [Term] id: DOID:6595 name: gastric tubular adenocarcinoma subset: NCIthesaurus synonym: "tubular adenocarcinoma of stomach" EXACT [] xref: NCI:C5473 xref: UMLS_CUI:C1333791 is_a: DOID:3717 ! gastric adenocarcinoma [Term] id: DOID:66 name: muscle tissue disease def: "A muscular disease located in the muscle tissue." [url:https\://medlineplus.gov/muscledisorders.html] is_a: DOID:0080000 ! muscular disease [Term] id: DOID:660 name: adrenal cortex cancer alt_id: DOID:3949 subset: NCIthesaurus synonym: "Adrenal cortical tumors" EXACT [] synonym: "malignant Adrenocortical tumor" EXACT [] synonym: "malignant neoplasm of adrenal cortex" EXACT [] synonym: "malignant tumour of adrenal cortex" EXACT [] synonym: "neoplasm of adrenal cortex" EXACT [] xref: ICD10CM:C74.0 xref: MESH:D000306 xref: NCI:C2858 xref: NCI:C9327 xref: SNOMEDCT_US_2023_03_01:127022002 xref: SNOMEDCT_US_2023_03_01:93664009 xref: UMLS_CUI:C0001618 xref: UMLS_CUI:C0346402 is_a: DOID:3952 ! adrenal cortex disease is_a: DOID:3953 ! adrenal gland cancer [Term] id: DOID:6602 name: obsolete recurrent malignant peritoneal mesothelioma synonym: "relapsed malignant Mesothelioma of Peritoneum" EXACT [] is_obsolete: true [Term] id: DOID:6603 name: Kummell's disease synonym: "Kummell disease" EXACT [] synonym: "Kummell's spondylitis" EXACT [] synonym: "Traumatic spondylopathy" EXACT [] xref: ICD10CM:M48.3 xref: ICD9CM:721.7 xref: SNOMEDCT_US_2023_03_01:240218006 xref: UMLS_CUI:C0152088 is_a: DOID:1123 ! spondyloarthropathy [Term] id: DOID:6604 name: obsolete spondylosis and allied disorder alt_id: DOID:12870 alt_id: DOID:12871 alt_id: DOID:8595 synonym: "cervical spondylosis with myelopathy" EXACT [] synonym: "cervical spondylosis with myelopathy (disorder)" EXACT [] synonym: "cervical spondylosis without myelopathy" EXACT [] synonym: "cervical spondylosis without myelopathy (disorder)" EXACT [] synonym: "Dorsal spondylosis without myelopathy" EXACT [] synonym: "Spondylogenic compression of cervical spinal cord" EXACT [] synonym: "Thoracic spondylosis without myelopathy" EXACT [] synonym: "Thoracic spondylosis without myelopathy (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:6605 name: classic variant of chromophobe renal cell carcinoma subset: NCIthesaurus xref: NCI:C27888 xref: UMLS_CUI:C1333062 is_a: DOID:4471 ! chromophobe renal cell carcinoma [Term] id: DOID:6606 name: eosinophilic variant of chromophobe renal cell carcinoma subset: NCIthesaurus xref: NCI:C27889 xref: UMLS_CUI:C1333405 is_a: DOID:4471 ! chromophobe renal cell carcinoma [Term] id: DOID:6607 name: nervous system hibernoma subset: NCIthesaurus synonym: "Hibernoma of nervous system" EXACT [] xref: NCI:C6997 is_a: DOID:6293 ! central nervous system lipoma [Term] id: DOID:6608 name: endobronchial leiomyoma subset: NCIthesaurus xref: NCI:C5661 xref: UMLS_CUI:C1333386 is_a: DOID:5136 ! lung leiomyoma [Term] id: DOID:6609 name: obsolete basaloid squamous cell carcinoma of the head and neck synonym: "Basaloid squamous cell carcinoma of head and neck" EXACT [] is_obsolete: true [Term] id: DOID:6610 name: bone epithelioid hemangioma alt_id: DOID:487 subset: DO_cancer_slim subset: NCIthesaurus synonym: "bone hemangioma" EXACT [] synonym: "hemangioma of bone" EXACT [] synonym: "osseous epithelioid hemangioma" EXACT [] synonym: "osseous hemangioma" EXACT [] xref: NCI:C5396 xref: NCI:C6477 xref: SNOMEDCT_US_2023_03_01:685021000119103 xref: UMLS_CUI:C1332575 xref: UMLS_CUI:C1332578 is_a: DOID:0060094 ! bone benign neoplasm [Term] id: DOID:6612 name: leukocyte adhesion deficiency alt_id: DOID:611 def: "A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system." [url:https\://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/, url:https\://www.ncbi.nlm.nih.gov/books/NBK539770/] subset: DO_rare_slim synonym: "Congenital leukocyte adherence deficiency" EXACT [] xref: GARD:9544 xref: MESH:D018370 xref: ORDO:2968 xref: UMLS_CUI:C0242597 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:6613 name: vaginal villous adenoma def: "A vaginal adenoma that is a polyp that resembles colorectal villous adenoma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18603704] subset: NCIthesaurus xref: NCI:C40259 xref: UMLS_CUI:C1519936 is_a: DOID:5402 ! vaginal adenoma [Term] id: DOID:6618 name: obsolete unknown primary adenocarcinoma synonym: "adenocarcinoma of unknown primary" RELATED [] is_obsolete: true [Term] id: DOID:6620 name: X-linked hyper IgM syndrome def: "A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3." [url:https\://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome] subset: DO_rare_slim subset: NCIthesaurus synonym: "HIGM1" EXACT OMO:0003012 [] synonym: "hyper-IgM immunodeficiency syndrome type 1" EXACT [] synonym: "hyper-IgM syndrome 1" EXACT [] synonym: "hyper-IgM syndrome type 1" EXACT [] synonym: "immunodeficiency with hyper-IgM type 1" EXACT [] synonym: "X-linked hyper-IgM immunodeficiency" EXACT [] synonym: "XHIM" EXACT OMO:0003012 [] xref: GARD:73 xref: MESH:D053307 xref: MIM:308230 xref: NCI:C158531 xref: ORDO:101088 xref: SNOMEDCT_US_2023_03_01:403835002 xref: UMLS_CUI:C0398689 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080544 ! hyper IgM syndrome property_value: exactMatch "GARD:73" xsd:string property_value: exactMatch "MESH:D053307" xsd:string property_value: exactMatch "MIM:308230" xsd:string property_value: exactMatch "NCI:C158531" xsd:string property_value: exactMatch "ORDO:101088" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:403835002" xsd:string property_value: exactMatch "UMLS_CUI:C0398689" xsd:string [Term] id: DOID:6621 name: cerebral angioma def: "A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen." [url:https\://en.wikipedia.org/wiki/Cavernous_hemangioma] subset: NCIthesaurus synonym: "hemangioma of Cerebrum" EXACT [] xref: NCI:C5433 xref: UMLS_CUI:C0877388 is_a: DOID:5393 ! brain angioma [Term] id: DOID:6627 name: cervical adenoma malignum def: "A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma." [url:http\://www.pathologyoutlines.com/topic/cervixadenomamalignum.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/23936961] subset: NCIthesaurus xref: NCI:C40206 xref: UMLS_CUI:C1516423 is_a: DOID:3701 ! cervical mucinous adenocarcinoma [Term] id: DOID:6628 name: obsolete malignant neoplasm of nipple synonym: "malignant tumor of Nipple" EXACT [] is_obsolete: true [Term] id: DOID:6629 name: nipple carcinoma def: "A breast carcinoma that is located_in the nipple." [url:http\://www.cancer.gov/dictionary?CdrID=45963] subset: NCIthesaurus xref: NCI:C28432 xref: UMLS_CUI:C1334966 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:663 name: scrotal angioma subset: NCIthesaurus synonym: "hemangioma of scrotum" EXACT [] xref: NCI:C6387 xref: UMLS_CUI:C1335936 is_a: DOID:255 ! hemangioma is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:6630 name: obsolete ovarian dermoid cyst with secondary sarcoma is_obsolete: true [Term] id: DOID:6631 name: obsolete ovarian dermoid cyst with leiomyosarcoma is_obsolete: true [Term] id: DOID:6632 name: obsolete ovarian dermoid cyst with angiosarcoma is_obsolete: true [Term] id: DOID:6634 name: adult central nervous system choriocarcinoma def: "A choriocarcinoma that is located in the central nervous system of an adult." [url:https\://en.wikipedia.org/wiki/Choriocarcinoma] subset: NCIthesaurus synonym: "Choriocarcinoma of the adult central nervous system" EXACT [] xref: NCI:C5793 xref: UMLS_CUI:C1370505 is_a: DOID:3594 ! choriocarcinoma is_a: DOID:3620 ! central nervous system cancer [Term] id: DOID:6639 name: childhood CNS choriocarcinoma def: "A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/_-HCG, has_material_basis_in abnormally proliferating cells, derives_from germ cells." [url:http\://www.ajnr.org/content/31/10/1994] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "Choriocarcinoma of the paediatric central nervous system" EXACT [] synonym: "Choriocarcinoma of the pediatric central nervous system" EXACT [] synonym: "paediatric CNS choriocarcinoma" EXACT [] synonym: "pediatric CNS choriocarcinoma" EXACT [] xref: NCI:C6206 xref: UMLS_CUI:C1377604 is_a: DOID:3594 ! choriocarcinoma [Term] id: DOID:664 name: angiokeratoma of Fordyce subset: NCIthesaurus synonym: "Fordyce angiokeratoma" EXACT [] synonym: "Fordyce's spot" EXACT [] synonym: "Fordyce-type Angiokeratoma of scrotum" EXACT [] xref: NCI:C7752 xref: SNOMEDCT_US_2023_03_01:254789007 xref: UMLS_CUI:C0263639 is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:6641 name: breast juvenile papillomatosis def: "A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years." [url:http\://surgpathcriteria.stanford.edu/breast/juvpapillomatosis/printable.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/7074576] subset: NCIthesaurus synonym: "Juvenile papillomatosis of the breast" EXACT [] xref: NCI:C9503 xref: SNOMEDCT_US_2023_03_01:708518001 xref: UMLS_CUI:C1334303 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:6643 name: Baastrup's syndrome synonym: "Baastrup syndrome" EXACT [] synonym: "Kissing spine" EXACT [] xref: ICD10CM:M48.2 xref: ICD9CM:721.5 xref: SNOMEDCT_US_2023_03_01:202681007 xref: UMLS_CUI:C0158248 is_a: DOID:1123 ! spondyloarthropathy [Term] id: DOID:6648 name: adult pineoblastoma subset: NCIthesaurus xref: NCI:C8292 xref: UMLS_CUI:C0281332 is_a: DOID:5031 ! adult pineal parenchymal tumor [Term] id: DOID:6652 name: diffuse idiopathic skeletal hyperostosis def: "A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine." [url:http\://www.mayoclinic.com/health/diffuse-idiopathic-skeletal-hyperostosis/DS00740] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Ankylosing vertebral hyperostosis" EXACT [] synonym: "DISH" EXACT OMO:0003012 [] synonym: "Disseminated idiopathic skeletal hyperostosis" EXACT [] synonym: "Forestier disease" RELATED [] xref: GARD:6460 xref: ICD10CM:M48.1 xref: ICD9CM:721.6 xref: MESH:D004057 xref: MIM:106400 xref: NCI:C84671 xref: SNOMEDCT_US_2023_03_01:31487001 xref: UMLS_CUI:C0020498 is_a: DOID:182 ! calcinosis [Term] id: DOID:6654 name: childhood central nervous system immature teratoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: NCI:C27405 xref: UMLS_CUI:C1332954 is_a: DOID:6019 ! central nervous system immature teratoma [Term] id: DOID:6657 name: breast large cell neuroendocrine carcinoma def: "A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin)." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608661/] subset: NCIthesaurus xref: NCI:C40356 xref: UMLS_CUI:C1511316 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:6658 name: pulmonary large cell neuroendocrine carcinoma alt_id: DOID:5721 subset: NCIthesaurus xref: NCI:C5672 xref: NCI:C6875 xref: SNOMEDCT_US_2023_03_01:128628002 xref: UMLS_CUI:C1265996 xref: UMLS_CUI:C1334363 is_a: DOID:4556 ! lung large cell carcinoma [Term] id: DOID:6659 name: cervical large cell neuroendocrine carcinoma def: "A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characterized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30642849] subset: NCIthesaurus xref: NCI:C40214 xref: UMLS_CUI:C1516417 is_a: DOID:2893 ! cervix carcinoma [Term] id: DOID:6663 name: obsolete papillotubular adenocarcinoma synonym: "adenocarcinoma in Tubulovillous adenoma" EXACT [] synonym: "adenocarcinoma in tubulovillous adenoma" EXACT [] synonym: "Tubulopapillary adenocarcinoma" EXACT [] is_obsolete: true [Term] id: DOID:6667 name: obsolete regressing nevus synonym: "regressing naevus" EXACT [] is_obsolete: true [Term] id: DOID:6675 name: obsolete menopausal syndrome synonym: "Menopausal syndrome (disorder)" EXACT [] synonym: "MENOPAUSE SYNDROME" EXACT [] is_obsolete: true [Term] id: DOID:6676 name: Froelich syndrome def: "A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity." [url:https\://en.wikipedia.org/wiki/Adiposogenital_dystrophy] subset: DO_rare_slim subset: NCIthesaurus synonym: "adiposogenital syndrome" EXACT [] synonym: "Babinski-Froelich syndrome" EXACT [] synonym: "Froehlich syndrome" EXACT [] synonym: "Froehlich's syndrome" EXACT [] synonym: "Froelich's syndrome" EXACT [] xref: GARD:6463 xref: ICD10CM:E23.6 xref: MESH:D007027 xref: NCI:C34625 xref: SNOMEDCT_US_2023_03_01:62999006 xref: UMLS_CUI:C0016724 is_a: DOID:1931 ! hypothalamic disease [Term] id: DOID:6677 name: diffuse infiltrative lymphocytosis syndrome def: "A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells." [url:http\://en.wikipedia.org/wiki/Diffuse_infiltrative_lymphocytosis_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/21295898] comment: No OMIM mapping, confirmed by DO. [LS]. subset: NCIthesaurus xref: NCI:C35699 xref: SNOMEDCT_US_2023_03_01:449784008 xref: UMLS_CUI:C1333292 is_a: DOID:225 ! syndrome [Term] id: DOID:6678 name: tooth and nail syndrome def: "A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails." [url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tooth%20and%20Nail%20Syndrome] comment: OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus synonym: "Hypoplastic enamel-onycholysis-hypohidrosis syndrome" EXACT [] synonym: "Witkop's syndrome" EXACT [] xref: MESH:C536736 xref: MIM:189500 xref: NCI:C40553 xref: SNOMEDCT_US_2023_03_01:400036004 xref: UMLS_CUI:C0406735 is_a: DOID:225 ! syndrome [Term] id: DOID:668 name: myositis ossificans def: "A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles." [url:http\://en.wikipedia.org/wiki/Myositis_ossificans, url:http\://www.merriam-webster.com/medlineplus/myositis] subset: NCIthesaurus synonym: "Myisitis ossificans" EXACT [] synonym: "Ossification - muscle" EXACT [] xref: MESH:D009221 xref: NCI:C3253 xref: SNOMEDCT_US_2023_03_01:44551007 xref: UMLS_CUI:C0027122 is_a: DOID:633 ! myositis [Term] id: DOID:6680 name: Capgras syndrome def: "A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor." [url:http\://en.wikipedia.org/wiki/Capgras_delusion] subset: NCIthesaurus synonym: "Capgras delusion theory" EXACT [] xref: MESH:D002194 xref: NCI:C34446 xref: SNOMEDCT_US_2023_03_01:44906001 xref: UMLS_CUI:C0006895 is_a: DOID:778 ! delusional disorder [Term] id: DOID:6681 name: obsolete diffuse leiomyomatosis syndrome comment: No OMIM mapping, confirmed by DO. [LS]. is_obsolete: true [Term] id: DOID:6682 name: spondylolisthesis def: "A bone structure disease that has_material_basis_in displacement located_in set of vertebrae." [url:http\://en.wikipedia.org/wiki/Spondylolisthesis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001260.htm, url:http\://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm] subset: NCIthesaurus xref: ICD10CM:M43.1 xref: MESH:D013168 xref: MIM:184200 xref: NCI:C35033 xref: SNOMEDCT_US_2023_03_01:157003009 xref: UMLS_CUI:C0038016 is_a: DOID:0060564 ! spinal disease is_a: DOID:0080010 ! bone structure disease [Term] id: DOID:6683 name: X-linked Aarskog syndrome def: "A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001654.htm] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Aarskog-Scott syndrome" EXACT [] synonym: "Greig's syndrome" EXACT [] xref: GARD:4775 xref: ICD10CM:Q87.19 xref: MESH:C535331 xref: MIM:305400 xref: NCI:C129720 xref: SNOMEDCT_US_2023_03_01:205809002 xref: UMLS_CUI:C0175701 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111824 ! Aarskog syndrome [Term] id: DOID:6686 name: Achard syndrome def: "A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet." [url:http\://en.wikipedia.org/wiki/Achard_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:8176 xref: MESH:C536012 xref: MIM:100700 xref: NCI:C35809 xref: UMLS_CUI:C1332135 is_a: DOID:225 ! syndrome [Term] id: DOID:6687 name: Achenbach syndrome subset: NCIthesaurus synonym: "Paroxysmal hematoma of the finger" EXACT [] xref: NCI:C35467 xref: SNOMEDCT_US_2023_03_01:238824006 xref: UMLS_CUI:C0473563 is_a: DOID:37 ! skin disease [Term] id: DOID:6688 name: autoimmune lymphoproliferative syndrome def: "A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen." [url:http\://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "ALPS" EXACT OMO:0003012 [] synonym: "Canale-Smith syndrome" EXACT [] xref: GARD:8686 xref: ICD10CM:D89.82 xref: ICD9CM:279.41 xref: MESH:D056735 xref: MIM:601859 xref: NCI:C37864 xref: ORDO:3261 xref: SNOMEDCT_US_2023_03_01:702444009 xref: UMLS_CUI:C1328840 is_a: DOID:2916 ! hypersensitivity reaction type IV disease property_value: exactMatch "MESH:D056735" xsd:string [Term] id: DOID:6689 name: obsolete adherence syndrome synonym: "Fat adherence syndrome of extraocular muscle (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:6690 name: obsolete acroparesthesia syndrome is_obsolete: true [Term] id: DOID:6691 name: Aagenaes syndrome def: "A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts." [url:http\://en.wikipedia.org/wiki/Aagenaes_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Cholestasis-edema syndrome, Norwegian type" EXACT [] xref: GARD:370 xref: MESH:C535330 xref: MIM:214900 xref: NCI:C35709 xref: ORDO:1414 xref: SNOMEDCT_US_2023_03_01:28724005 xref: UMLS_CUI:C0268314 is_a: DOID:225 ! syndrome [Term] id: DOID:6692 name: Barre-Lieou syndrome def: "A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738935/] comment: No OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Cervicocranial syndrome" EXACT [] synonym: "Posterior cervical sympathetic syndrome" EXACT [] xref: ICD10CM:M53.0 xref: MESH:D055010 xref: NCI:C34411 xref: SNOMEDCT_US_2023_03_01:17300000 xref: UMLS_CUI:C0376378 is_a: DOID:225 ! syndrome [Term] id: DOID:6693 name: testicular monophasic choriocarcinoma def: "A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells." [url:https\://pubmed.ncbi.nlm.nih.gov/9060597/] subset: NCIthesaurus xref: NCI:C39935 xref: UMLS_CUI:C1515290 is_a: DOID:5551 ! choriocarcinoma of the testis [Term] id: DOID:6696 name: synchronous multifocal osteogenic sarcoma subset: NCIthesaurus xref: NCI:C6471 xref: UMLS_CUI:C1336544 is_a: DOID:3360 ! multifocal osteogenic sarcoma [Term] id: DOID:6697 name: asynchronous multifocal osteogenic sarcoma subset: NCIthesaurus xref: NCI:C6472 xref: UMLS_CUI:C1332342 is_a: DOID:3360 ! multifocal osteogenic sarcoma [Term] id: DOID:67 name: obsolete neural tissue disease synonym: "nervous tissue disease" EXACT [] is_obsolete: true [Term] id: DOID:670 name: amphetamine abuse alt_id: DOID:12067 alt_id: DOID:14436 alt_id: DOID:669 def: "A substance abuse that involves the recurring use of amphetamines despite negative consequences." [url:http\://en.wikipedia.org/wiki/Amphetamine_Abuse] xref: ICD9CM:305.7 xref: UMLS_CUI:C0154536 is_a: DOID:302 ! substance abuse [Term] id: DOID:6700 name: gastric fundus carcinoma subset: NCIthesaurus synonym: "cancer of Fundus of stomach" EXACT [] synonym: "carcinoma of fundus of stomach" EXACT [] xref: NCI:C8398 xref: SNOMEDCT_US_2023_03_01:254555008 xref: UMLS_CUI:C0345799 is_a: DOID:10538 ! gastric fundus cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:6702 name: obsolete recurrent stomach cancer synonym: "recurrent carcinoma of the stomach" EXACT [] synonym: "recurrent gastric cancer" EXACT [] is_obsolete: true [Term] id: DOID:6703 name: gastric pylorus carcinoma subset: NCIthesaurus synonym: "carcinoma of Pylorus of stomach" EXACT [] xref: NCI:C6795 xref: UMLS_CUI:C1333787 is_a: DOID:10544 ! pylorus cancer is_a: DOID:5517 ! stomach carcinoma [Term] id: DOID:6704 name: obsolete anaplastic gastric carcinoma synonym: "Undifferentiated carcinoma of stomach" EXACT [] is_obsolete: true [Term] id: DOID:6705 name: gastric body carcinoma subset: NCIthesaurus synonym: "cancer of body of stomach" EXACT [] synonym: "carcinoma of body of stomach" EXACT [] xref: NCI:C8399 xref: SNOMEDCT_US_2023_03_01:254557000 xref: UMLS_CUI:C0345804 is_a: DOID:5517 ! stomach carcinoma [Term] id: DOID:6706 name: tubular variant testicular seminoma subset: NCIthesaurus xref: NCI:C40959 xref: UMLS_CUI:C1515294 is_a: DOID:5842 ! testis seminoma [Term] id: DOID:6707 name: malignant triton tumor subset: NCIthesaurus synonym: "malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma" EXACT [] synonym: "malignant Triton tumour" EXACT [] synonym: "MPNST with rhabdomyoblastic differentiation" EXACT [] synonym: "MPNST with Rhabdomyosarcoma" EXACT [] xref: NCI:C4335 xref: SNOMEDCT_US_2023_03_01:189951004 xref: UMLS_CUI:C0334616 is_a: DOID:5940 ! malignant peripheral nerve sheath tumor [Term] id: DOID:6708 name: obsolete recurrent ovarian epithelial cancer synonym: "relapsed carcinoma of Ovary" EXACT [] is_obsolete: true [Term] id: DOID:6710 name: obsolete metastatic anal cancer synonym: "secondary carcinoma from the anus" EXACT [] is_obsolete: true [Term] id: DOID:6712 name: anterior spinal artery syndrome def: "A syndrome that is characterized by loss of function of the anterior two-thirds of the spinal cord that results from ischemia of the anterior spinal artery." [url:https\://en.wikipedia.org/wiki/Anterior_spinal_artery_syndrome] subset: DO_rare_slim synonym: "Anterior spinal artery occlusion syndrome" EXACT [] xref: GARD:9653 xref: ICD10CM:G83.82 xref: MESH:D020759 xref: SNOMEDCT_US_2023_03_01:282785008 xref: UMLS_CUI:C0221069 is_a: DOID:0050828 ! artery disease is_a: DOID:225 ! syndrome is_a: DOID:6713 ! cerebrovascular disease property_value: exactMatch "MESH:D020759" xsd:string [Term] id: DOID:6713 name: cerebrovascular disease alt_id: DOID:12214 alt_id: DOID:3455 alt_id: DOID:8231 def: "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain." [url:http\://en.wikipedia.org/wiki/Cerebrovascular_disease, url:http\://www.ncbi.nlm.nih.gov/books/NBK378/] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "cerebrovascular disorder" EXACT [] synonym: "CVA" EXACT OMO:0003012 [] synonym: "stroke" EXACT [] xref: EFO:0000712 xref: ICD10CM:I67.9 xref: ICD9CM:437.9 xref: MESH:D002561 xref: NCI:C2938 xref: SNOMEDCT_US_2023_03_01:266312006 xref: UMLS_CUI:C0007820 is_a: DOID:178 ! vascular disease is_a: DOID:936 ! brain disease [Term] id: DOID:6714 name: obsolete circumscribed storiform collagenoma synonym: "Circumscribed Storiform Collagenoma" EXACT [] synonym: "Circumscribed storiform collagenoma (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:6715 name: obsolete collagen nevus of skin synonym: "Collagen hamartoma (morphologic abnormality)" EXACT [] synonym: "Collagen naevus" EXACT [] synonym: "Collagen nevus" EXACT [] synonym: "Collagen nevus of skin (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:6716 name: obsolete eruptive collagenoma synonym: "Eruptive collagenoma (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:672 name: spleen cancer alt_id: DOID:671 def: "A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3614769/] subset: DO_rare_slim subset: NCIthesaurus synonym: "malignant Splenic tumor" EXACT [] synonym: "malignant tumour of spleen" EXACT [] synonym: "spleen neoplasm" EXACT [] synonym: "Splenic neoplasm" EXACT [] xref: GARD:7683 xref: ICD10CM:C26.1 xref: MESH:D013160 xref: NCI:C3383 xref: NCI:C3539 xref: SNOMEDCT_US_2023_03_01:127230005 xref: SNOMEDCT_US_2023_03_01:94071006 xref: UMLS_CUI:C0037999 xref: UMLS_CUI:C0153470 is_a: DOID:0060073 ! lymphatic system cancer is_a: DOID:2529 ! splenic disease [Term] id: DOID:6721 name: Littre gland carcinoma def: "A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands." [url:http\://en.wikipedia.org/wiki/Urethral_gland] subset: NCIthesaurus xref: NCI:C39865 xref: UMLS_CUI:C1516285 is_a: DOID:305 ! carcinoma is_a: DOID:3856 ! male reproductive organ cancer [Term] id: DOID:6723 name: malignant type AB thymoma subset: NCIthesaurus synonym: "Thymoma, mixed type, malignant" EXACT [] xref: NCI:C6886 xref: SNOMEDCT_US_2023_03_01:128710005 xref: UMLS_CUI:C1266093 is_a: DOID:3280 ! mixed type thymoma [Term] id: DOID:6725 name: spinal stenosis alt_id: DOID:10097 alt_id: DOID:12235 def: "A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord." [url:http\://en.wikipedia.org/wiki/Spinal_stenosis, url:http\://www.mayoclinic.com/health/spinal-stenosis/DS00515, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000441.htm] subset: NCIthesaurus synonym: "cervical spinal stenosis" EXACT [] synonym: "lumbar spinal stenosis" EXACT [] synonym: "Spinal stenosis of lumbar region" EXACT [] xref: ICD10CM:M48.0 xref: ICD10CM:M48.02 xref: ICD10CM:M48.061 xref: ICD9CM:723.0 xref: ICD9CM:724.00 xref: MESH:D013130 xref: NCI:C177444 xref: NCI:C177445 xref: SNOMEDCT_US_2023_03_01:18347007 xref: SNOMEDCT_US_2023_03_01:268082002 xref: SNOMEDCT_US_2023_03_01:83561009 xref: UMLS_CUI:C0037944 xref: UMLS_CUI:C0158280 xref: UMLS_CUI:C0158288 is_a: DOID:0080007 ! bone deterioration disease [Term] id: DOID:6726 name: fibrillary astrocytoma def: "A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes." [url:http\://en.wikipedia.org/wiki/Fibrillary_astrocytoma, url:http\://www.cancer.gov/dictionary?CdrID=45602] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Fibrillary Astrocytic tumors" EXACT [] xref: ICDO:9420/3 xref: MESH:D001254 xref: NCI:C4322 xref: SNOMEDCT_US_2023_03_01:71314006 xref: UMLS_CUI:C0334582 is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:6727 name: colon small cell carcinoma subset: NCIthesaurus synonym: "Colonic small cell carcinoma" EXACT [] xref: NCI:C6761 xref: UMLS_CUI:C1333099 is_a: DOID:219 ! colon cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:6728 name: obsolete recurrent pediatric optic nerve astrocytoma is_obsolete: true [Term] id: DOID:6729 name: obsolete recurrent pediatric optic nerve glioma is_obsolete: true [Term] id: DOID:6730 name: obsolete recurrent childhood optic tract astrocytoma synonym: "recurrent pediatric visual pathway astrocytoma" EXACT [] is_obsolete: true [Term] id: DOID:6731 name: obsolete recurrent glioma of childhood visual pathway synonym: "relapsed glioma of the pediatric visual pathway" EXACT [] is_obsolete: true [Term] id: DOID:6733 name: intrahepatic bile duct cystadenoma def: "A bile duct cystadenoma located_in an intrahepatic bile duct." [url:https\://pubmed.ncbi.nlm.nih.gov/19630118/] subset: NCIthesaurus synonym: "Cystadenoma of the Intrahepatic bile duct" EXACT [] xref: NCI:C96835 xref: UMLS_CUI:C1334257 is_a: DOID:5384 ! bile duct cystadenoma [Term] id: DOID:6735 name: schwannoma of jugular foramen subset: NCIthesaurus synonym: "Neurilemmoma of Jugular Foramen" EXACT [] xref: NCI:C5323 xref: UMLS_CUI:C1334300 is_a: DOID:956 ! peripheral nerve schwannoma [Term] id: DOID:674 name: cleft palate def: "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate." [url:http\://en.wikipedia.org/wiki/Cleft_lip_and_palate#Cleft_palate, url:http\://ghr.nlm.nih.gov/glossary=cleftpalate] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Palatoschisis" EXACT [] xref: ICD10CM:Q35 xref: ICD9CM:749.0 xref: MESH:D002972 xref: NCI:C87069 xref: ORDO:99772 xref: SNOMEDCT_US_2023_03_01:156940009 xref: UMLS_CUI:C0008925 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:6740 name: cervix small cell carcinoma subset: NCIthesaurus synonym: "small cell carcinoma of the cervix" RELATED [] synonym: "small cell carcinoma of the Cervix Uteri" EXACT [] xref: NCI:C7982 xref: UMLS_CUI:C0279674 is_a: DOID:2893 ! cervix carcinoma [Term] id: DOID:6741 name: bilateral breast cancer def: "A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times." [url:http\://www.ehow.com/facts_5923640_treatments-bilateral-breast-cancer_.html] subset: NCIthesaurus synonym: "Bilateral breast carcinoma" EXACT [] xref: NCI:C8287 xref: UMLS_CUI:C0281267 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:6742 name: synchronous bilateral breast carcinoma subset: NCIthesaurus xref: NCI:C40370 xref: UMLS_CUI:C1515107 is_a: DOID:6741 ! bilateral breast cancer [Term] id: DOID:6750 name: obsolete malignant fibrous histiocytoma recurrent synonym: "relapsed malignant fibrous Histiocytoma" EXACT [] is_obsolete: true [Term] id: DOID:6752 name: internal auditory canal lipoma def: "An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19813171] subset: NCIthesaurus synonym: "Lipoma of the Internal Auditory canal" EXACT [] xref: NCI:C5452 xref: UMLS_CUI:C1334226 is_a: DOID:0080619 ! auditory system benign neoplasm is_a: DOID:3315 ! lipoma [Term] id: DOID:6755 name: amyloid tumor synonym: "Amyloid neoplasm" EXACT [] synonym: "amyloid tumour" EXACT [] xref: SNOMEDCT_US_2023_03_01:37279009 xref: UMLS_CUI:C0333572 is_a: DOID:3350 ! mesenchymal cell neoplasm [Term] id: DOID:6758 name: chest wall lymphoma alt_id: DOID:3724 def: "A thoracic cancer that is located_in the chest wall." [url:http\://en.wikipedia.org/wiki/Chest_wall] subset: NCIthesaurus synonym: "chest wall cancer" EXACT [] synonym: "lymphoma of chest wall" EXACT [] synonym: "Lymphoma of the Chest Wall" EXACT [] synonym: "malignant neoplasm of chest wall" EXACT [] synonym: "malignant tumor of Chest Wall" EXACT [] xref: NCI:C4580 xref: NCI:C6712 xref: SNOMEDCT_US_2023_03_01:93754006 xref: UMLS_CUI:C0346948 xref: UMLS_CUI:C1332933 is_a: DOID:0060058 ! lymphoma is_a: DOID:5093 ! thoracic cancer [Term] id: DOID:6759 name: bone lymphoma def: "A bone cancer and lymphoma by site that results_in lymphoma starting in the bone." [url:http\://lymphoma.about.com/od/nonhodgkinlymphoma/qt/bonelymphoma.htm] subset: NCIthesaurus synonym: "lymphoma of bone" EXACT [] synonym: "Lymphoma of the bone" EXACT [] xref: NCI:C6620 xref: SNOMEDCT_US_2023_03_01:766935007 xref: UMLS_CUI:C1332582 is_a: DOID:0060058 ! lymphoma is_a: DOID:184 ! bone cancer [Term] id: DOID:676 name: juvenile rheumatoid arthritis alt_id: DOID:10129 alt_id: DOID:1264 alt_id: DOID:675 def: "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint." [url:http\://www.mayoclinic.com/health/juvenile-rheumatoid-arthritis/DS00018, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000451.htm, url:http\://www.umm.edu/ency/article/000451.htm] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "acute juvenile rheumatoid arthritis" EXACT [] synonym: "juvenile chronic polyarthritis" EXACT [] synonym: "juvenile idiopathic arthritis" EXACT [] synonym: "monarticular juvenile rheumatoid arthritis" EXACT [] synonym: "pauciarticular juvenile arthritis" EXACT [] synonym: "Pauciarticular onset juvenile chronic arthritis" EXACT [] synonym: "Still's disease" EXACT [] synonym: "systemic juvenile rheumatoid arthritis" EXACT [] xref: GARD:3067 xref: ICD10CM:M08.4 xref: ICD9CM:714.3 xref: ICD9CM:714.31 xref: ICD9CM:714.32 xref: ICD9CM:714.33 xref: MIM:604302 xref: NCI:C26979 xref: NCI:C61279 xref: ORDO:92 xref: SNOMEDCT_US_2023_03_01:201798003 xref: SNOMEDCT_US_2023_03_01:74391003 xref: SNOMEDCT_US_2023_03_01:7441009 xref: SNOMEDCT_US_2023_03_01:83793004 xref: UMLS_CUI:C0157916 xref: UMLS_CUI:C0157917 xref: UMLS_CUI:C0157918 xref: UMLS_CUI:C0409667 is_a: DOID:7148 ! rheumatoid arthritis [Term] id: DOID:6760 name: lung lymphoma synonym: "lymphoma of lung" EXACT [] synonym: "pulmonary Lymphoma" EXACT [] xref: UMLS_CUI:C0519063 is_a: DOID:0060058 ! lymphoma is_a: DOID:1324 ! lung cancer [Term] id: DOID:6761 name: obsolete skin lymphoma synonym: "Cutaneous lymphoma (disorder)" EXACT [] synonym: "Cutaneous lymphoma, NOS" EXACT [] is_obsolete: true [Term] id: DOID:6762 name: sternum lymphoma subset: NCIthesaurus synonym: "Lymphoma of Sternum" EXACT [] synonym: "lymphoma of the sternum" EXACT [] xref: NCI:C6716 xref: UMLS_CUI:C1336504 is_a: DOID:0060058 ! lymphoma is_a: DOID:5090 ! sternum cancer [Term] id: DOID:6764 name: obsolete peripheral neuroblastoma synonym: "peripheral neuroblastoma" EXACT [] is_obsolete: true [Term] id: DOID:6774 name: polyembryoma of the ovary def: "An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies." [url:https\://en.wikipedia.org/wiki/Polyembryoma] subset: NCIthesaurus xref: NCI:C39990 xref: UMLS_CUI:C1514199 is_a: DOID:5351 ! ovarian primitive germ cell tumor [Term] id: DOID:6776 name: breast myoepithelial carcinoma def: "A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840516/] subset: NCIthesaurus xref: NCI:C40395 xref: UMLS_CUI:C1518167 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:6777 name: villoglandular endometrial endometrioid adenocarcinoma def: "An endometrial adenocarcinoma that is characterized by papillary differentiation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8179072] subset: NCIthesaurus xref: NCI:C27846 xref: UMLS_CUI:C1336962 is_a: DOID:2870 ! endometrial adenocarcinoma [Term] id: DOID:6778 name: obsolete renal pelvis and ureter localized transitional cell cancer synonym: "localized Urothelial carcinoma of the renal Pelvis and Ureter" EXACT [] is_obsolete: true [Term] id: DOID:678 name: progressive supranuclear palsy def: "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain." [url:http\://en.wikipedia.org/wiki/Progressive_supranuclear_palsy, url:http\://www.ninds.nih.gov/disorders/psp/psp.htm] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "progressive supranuclear ophthalmoplegia" EXACT [] synonym: "Steele-Richardson-Olszewski syndrome" EXACT [] xref: GARD:7471 xref: ICD10CM:G23.1 xref: MESH:D013494 xref: MIM:601104 xref: MIM:609454 xref: MIM:610898 xref: NCI:C85028 xref: ORDO:683 xref: SNOMEDCT_US_2023_03_01:192975003 xref: UMLS_CUI:C0038868 is_a: DOID:480 ! movement disease [Term] id: DOID:6784 name: obsolete pediatric desmoplastic small round cell tumor is_obsolete: true [Term] id: DOID:6785 name: desmoplastic small round cell tumor def: "A small cell sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass." [url:https\://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor, url:https\://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/desmoplastic-small-round-cell-tumors] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "desmoplastic small round-cell neoplasm" EXACT [] xref: GARD:6265 xref: ICDO:8806/3 xref: NCI:C8300 is_a: DOID:3098 ! small cell sarcoma [Term] id: DOID:6786 name: childhood botryoid rhabdomyosarcoma def: "A botryoid rhabdomyosarcoma that presents in childhood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8088765] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood sarcoma Botryoides" EXACT [] xref: NCI:C35574 xref: UMLS_CUI:C1332944 is_a: DOID:3255 ! botryoid rhabdomyosarcoma [Term] id: DOID:6787 name: childhood vagina botryoid rhabdomyosarcoma def: "A vagina botryoid rhabdomyosarcoma that presents in childhood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27870705] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "vaginal childhood sarcoma Botryoides" EXACT [] xref: NCI:C35556 xref: UMLS_CUI:C1332945 is_a: DOID:6788 ! vagina botryoid rhabdomyosarcoma [Term] id: DOID:6788 name: vagina botryoid rhabdomyosarcoma def: "A botryoid rhabdomyosarcoma that is located_in the vagina." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15887839] subset: NCIthesaurus xref: NCI:C40268 xref: UMLS_CUI:C1511275 is_a: DOID:119 ! vaginal cancer is_a: DOID:3255 ! botryoid rhabdomyosarcoma [Term] id: DOID:6789 name: vulvar childhood botryoid-type embryonal rhabdomyosarcoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood sarcoma Botryoides of the Vulva" EXACT [] xref: NCI:C36098 xref: UMLS_CUI:C1332946 is_a: DOID:2096 ! vulvar sarcoma [Term] id: DOID:679 name: basal ganglia disease def: "A brain disease that is characterized by dysfunctional movement, located_in basal ganglia that has_material_basis_in diseased components of the basal ganglia and associated neural circuits." [url:https\://en.wikipedia.org/wiki/Basal_ganglia_disease] xref: MESH:D001480 xref: SNOMEDCT_US_2023_03_01:70835005 xref: UMLS_CUI:C0004782 is_a: DOID:936 ! brain disease [Term] id: DOID:6792 name: obsolete mixed endodermal sinus neoplasm and teratoma with seminoma of the testis synonym: "mixed Yolk Sac tumor and teratoma with Seminoma of testis" EXACT [] is_obsolete: true [Term] id: DOID:68 name: obsolete lymphomyeloid tissue disease is_obsolete: true [Term] id: DOID:680 name: tauopathy def: "A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain." [url:http\://en.wikipedia.org/wiki/Tauopathy] subset: DO_FlyBase_slim xref: MESH:D024801 xref: UMLS_CUI:C0949664 is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:6801 name: obsolete recurrent hematologic cancer def: "A hematoloic cancer that is located_in the blood or bone marrow that has come back in a patient." [url:http\://www.cancer.gov/dictionary/?CdrID=45708, url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1x_What_is_Recurrent_Cancer.asp] synonym: "recurrent Hematologic Malignancy" EXACT [] is_obsolete: true [Term] id: DOID:6802 name: obsolete relapsed precursor T lymphoblastic lymphoma/leukemia is_obsolete: true [Term] id: DOID:6803 name: obsolete recurrent adult acute lymphocytic leukemia def: "A recurrent hematologic cancer that is located_in bone marrow and is characterized by the production of too many lymphocytes." [url:http\://my.clevelandclinic.org/disorders/acute_lymphocytic_leukemia/hic_adult_acute_lymphoblastic_leukemia.aspx] synonym: "relapsed adult acute lymphoid Leukemia" EXACT [] is_obsolete: true [Term] id: DOID:6804 name: colon Kaposi sarcoma def: "A sarcoma of colon that is located_in the colon." [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp] subset: NCIthesaurus synonym: "Colonic Kaposi's sarcoma" EXACT [] xref: NCI:C5516 xref: SNOMEDCT_US_2023_03_01:1156795003 xref: UMLS_CUI:C1333091 is_a: DOID:5260 ! colon sarcoma [Term] id: DOID:6807 name: obsolete hamartoma Moniliformis synonym: "Moniliform hamartoma (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:6808 name: obsolete Basaloid follicular hamartoma synonym: "Basal cell nevus with Comedones" EXACT [] is_obsolete: true [Term] id: DOID:6809 name: obsolete vaginal tubular adenoma def: "A vaginal adenoma that resembles the colorectal tubular adenoma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25672089] comment: retired NCI concept. subset: NCIthesaurus is_obsolete: true [Term] id: DOID:681 name: progressive bulbar palsy subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10928 xref: ICD10CM:G12.22 xref: ICD9CM:335.22 xref: MESH:D010244 xref: NCI:C85026 xref: SNOMEDCT_US_2023_03_01:54304004 xref: UMLS_CUI:C0030442 is_a: DOID:231 ! motor neuron disease [Term] id: DOID:6811 name: juvenile pilocytic astrocytoma def: "A pilocytic astrocytoma that occurs during adolescence." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27081] subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: MESH:D001254 xref: NCI:C27081 xref: UMLS_CUI:C0280783 is_a: DOID:4851 ! pilocytic astrocytoma [Term] id: DOID:6812 name: childhood pilocytic astrocytoma def: "A pilocytic astrocytoma that occurs during childhood." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4048] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric Pilocytic astrocytoma" EXACT [] xref: NCI:C4048 xref: UMLS_CUI:C1332995 is_a: DOID:4851 ! pilocytic astrocytoma [Term] id: DOID:682 name: compartment syndrome subset: DO_rare_slim subset: NCIthesaurus synonym: "Compartmental syndrome" EXACT [] xref: GARD:6141 xref: ICD10CM:T79.A0 xref: ICD9CM:958.90 xref: MESH:D003161 xref: NCI:C118422 xref: SNOMEDCT_US_2023_03_01:212379008 xref: UMLS_CUI:C0009492 is_a: DOID:326 ! ischemia [Term] id: DOID:6820 name: obsolete anaplastic childhood astrocytoma of brain synonym: "grade III pediatric astrocytoma of the brain" EXACT [] is_obsolete: true [Term] id: DOID:6823 name: pancreatoblastoma subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:4210 xref: ICDO:8971/3 xref: MESH:C537162 xref: NCI:C4265 xref: SNOMEDCT_US_2023_03_01:53618008 xref: UMLS_CUI:C0334489 is_a: DOID:4905 ! pancreatic carcinoma [Term] id: DOID:6826 name: obsolete recurrent cancer of pancreas synonym: "relapsed pancreatic carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:6827 name: pancreatic solid pseudopapillary carcinoma def: "A pancreatic carcinoma that is characterized by its papillary architecture." [url:http\://en.wikipedia.org/wiki/Solid_pseudopapillary_tumour, url:https\://www.ncbi.nlm.nih.gov/pubmed/19268906] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C5728 xref: SNOMEDCT_US_2023_03_01:782697005 xref: UMLS_CUI:C1336029 is_a: DOID:4905 ! pancreatic carcinoma [Term] id: DOID:6828 name: obsolete non-resectable pancreatic carcinoma synonym: "Unresectable pancreatic carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:683 name: motor neuritis subset: NCIthesaurus synonym: "peripheral motor neuropathy" EXACT [] xref: MESH:D009443 xref: NCI:C3500 xref: SNOMEDCT_US_2023_03_01:95663000 xref: UMLS_CUI:C0235025 is_a: DOID:231 ! motor neuron disease [Term] id: DOID:6830 name: obsolete resectable pancreas carcinoma synonym: "pancreatic carcinoma, Resectable" EXACT [] is_obsolete: true [Term] id: DOID:6835 name: obsolete recurrent anal cancer synonym: "recurrent anal canal cancer" EXACT [] is_obsolete: true [Term] id: DOID:6837 name: rete ovarii adenoma def: "A rete ovarii benign neoplasm that derives_from glandular epithelial cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9416702] subset: NCIthesaurus xref: NCI:C40018 xref: SNOMEDCT_US_2023_03_01:703654008 xref: UMLS_CUI:C1514905 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:4895 ! rete ovarii benign neoplasm [Term] id: DOID:6838 name: rete ovarii cystadenofibroma def: "A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21139896] subset: NCIthesaurus xref: NCI:C40020 xref: UMLS_CUI:C1514906 is_a: DOID:2683 ! adenofibroma is_a: DOID:4895 ! rete ovarii benign neoplasm [Term] id: DOID:6839 name: breast intraductal proliferative lesion def: "An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation." [url:https\://www.hindawi.com/journals/ijso/2012/501904/] subset: NCIthesaurus synonym: "Intraductal Proliferative Lesion" EXACT [] xref: NCI:C27942 xref: UMLS_CUI:C1334631 is_a: DOID:3013 ! intraductal breast benign neoplasm [Term] id: DOID:684 name: hepatocellular carcinoma alt_id: DOID:5005 def: "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." [url:http\://cancergenome.nih.gov/cancersselected/LiverHepatocellularCarcinoma, url:http\://en.wikipedia.org/wiki/Hepatocellular_carcinoma, url:http\://www.omim.org/entry/114550] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Hepatoma" EXACT [] xref: EFO:0000182 xref: ICD10CM:C22.0 xref: ICDO:8170/3 xref: MESH:D006528 xref: MIM:114550 xref: NCI:C3099 xref: ORDO:88673 xref: SNOMEDCT_US_2023_03_01:154469006 xref: UMLS_CUI:C2239176 is_a: DOID:686 ! liver carcinoma [Term] id: DOID:6840 name: obsolete glandular cell intraepithelial neoplasm is_obsolete: true [Term] id: DOID:6841 name: flat ductal epithelial atypia def: "A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424157/] subset: NCIthesaurus xref: NCI:C36086 xref: SNOMEDCT_US_2023_03_01:860895001 xref: UMLS_CUI:C1333620 is_a: DOID:6839 ! breast intraductal proliferative lesion [Term] id: DOID:6844 name: kidney pelvis sarcomatoid transitional cell carcinoma subset: NCIthesaurus synonym: "sarcomatoid transitional cell carcinoma of renal Pelvis" EXACT [] xref: NCI:C6186 xref: UMLS_CUI:C1335752 is_a: DOID:2671 ! transitional cell carcinoma is_a: DOID:4919 ! renal pelvis carcinoma [Term] id: DOID:6845 name: infiltrating ureter transitional cell carcinoma subset: NCIthesaurus xref: NCI:C39879 xref: UMLS_CUI:C1512750 is_a: DOID:6888 ! ureter transitional cell carcinoma [Term] id: DOID:6846 name: familial melanoma subset: NCIthesaurus xref: NCI:C8498 xref: UMLS_CUI:C1512419 is_a: DOID:1909 ! melanoma [Term] id: DOID:6847 name: adult botryoid rhabdomyosarcoma def: "A botryoid rhabdomyosarcoma that is present in an adult." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17955586] subset: NCIthesaurus xref: NCI:C36099 xref: UMLS_CUI:C1332185 is_a: DOID:3255 ! botryoid rhabdomyosarcoma [Term] id: DOID:6848 name: adult vagina botryoid rhabdomyosarcoma def: "A vagina botryoid rhabdomyosarcoma that presents in adulthood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2190875] subset: NCIthesaurus xref: NCI:C40267 xref: UMLS_CUI:C1515893 is_a: DOID:6788 ! vagina botryoid rhabdomyosarcoma [Term] id: DOID:6849 name: obsolete testicular intratubular germ cell neoplasia of the unclassified type def: "A stage 0 cancer of the testis consisting of the uniform precursor of testicular germ cell tumors (GCTs). ITGCNU can be found in testicular tissue adjacent to GCTs in approximately 90 percent of adult cases and is found in all groups at risk for testicular cancer, including men with cryptorchid testes, prior testicular cancer, and individuals with abnormal sexual differentiation." [url:http\://www.uptodate.com/patients/content/topic.do;jsessionid=AF34B529665BBA3D33DEFFFC30543A6E.0503?topicKey=~Kq11UoNm8vmBaK&selectedTitle=1~8&source=search_result] synonym: "ITGCNU" EXACT [] synonym: "testicular Intraepithelial Neoplasia" EXACT [] is_obsolete: true [Term] id: DOID:6850 name: obsolete hamartoma of Eccrine Sweat gland synonym: "hamartoma of the Eccrine Sweat gland" EXACT [] is_obsolete: true [Term] id: DOID:6851 name: obsolete Linear Eccrine nevus with Comedones synonym: "Porokeratotic Eccrine duct and Hair Follicle nevus" EXACT [] synonym: "Porokeratotic eccrine ostial and dermal duct nevus (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:6852 name: obsolete eccrine angiomatous hamartoma synonym: "Eccrine angiomatous hamartoma (disorder)" EXACT [] synonym: "Eccrine Angiomatous nevus" EXACT [] is_obsolete: true [Term] id: DOID:6854 name: ethmoid sinus ectopic meningioma subset: NCIthesaurus synonym: "primary Ectopic meningioma of ethmoidal sinus" EXACT [] xref: NCI:C5309 xref: UMLS_CUI:C1333475 is_a: DOID:1364 ! ethmoidal sinus benign neoplasm [Term] id: DOID:6856 name: pineal region teratoma subset: NCIthesaurus synonym: "teratoma of Pineal Area" EXACT [] xref: NCI:C6753 xref: UMLS_CUI:C1335419 is_a: DOID:1660 ! malignant pineal area germ cell neoplasm [Term] id: DOID:6857 name: pineal region mature teratoma def: "A mature teratoma that is located_in the pineal region." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28236067] subset: NCIthesaurus synonym: "Mature teratoma of the Pineal Area" EXACT [] xref: NCI:C6754 xref: UMLS_CUI:C1335417 is_a: DOID:6856 ! pineal region teratoma [Term] id: DOID:6858 name: pineal region immature teratoma subset: NCIthesaurus synonym: "Atypical Pineal teratoma" EXACT [] xref: NCI:C6755 xref: UMLS_CUI:C1335416 is_a: DOID:6856 ! pineal region teratoma [Term] id: DOID:686 name: liver carcinoma def: "A liver cancer that has_material_basis_in epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://en.wikipedia.org/wiki/Liver_cancer] subset: NCIthesaurus synonym: "Liver and Intrahepatic bile duct carcinoma" EXACT [] xref: NCI:C7927 xref: UMLS_CUI:C0279000 is_a: DOID:305 ! carcinoma is_a: DOID:3571 ! liver cancer [Term] id: DOID:6860 name: obsolete Endobronchial hamartoma is_obsolete: true [Term] id: DOID:6861 name: obsolete recurrent cancer of gallbladder synonym: "relapsed cancer of the gallbladder" EXACT [] is_obsolete: true [Term] id: DOID:6865 name: oxyphilic endometrial endometrioid adenocarcinoma def: "An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells." [url:https\://pubmed.ncbi.nlm.nih.gov/7814190/, url:https\://www.researchgate.net/publication/15385398_Endometrioid_Carcinoma_of_the_Ovary_and_Endometrium_Oxyphilic_Cell_Type] subset: NCIthesaurus xref: NCI:C27849 xref: UMLS_CUI:C1518768 is_a: DOID:2870 ! endometrial adenocarcinoma [Term] id: DOID:6867 name: mediastinal gray zone lymphoma subset: NCIthesaurus xref: NCI:C37870 xref: UMLS_CUI:C1334657 is_a: DOID:5822 ! gray zone lymphoma is_a: DOID:6868 ! mediastinal malignant lymphoma [Term] id: DOID:6868 name: mediastinal malignant lymphoma subset: NCIthesaurus synonym: "Lymphoma of mediastinum" EXACT [] xref: NCI:C6633 xref: UMLS_CUI:C1334665 is_a: DOID:0060058 ! lymphoma is_a: DOID:5559 ! mediastinal cancer [Term] id: DOID:6869 name: parasagittal meningioma subset: NCIthesaurus xref: MESH:D008579 xref: NCI:C4960 xref: UMLS_CUI:C0751304 is_a: DOID:6114 ! cerebral convexity meningioma [Term] id: DOID:687 name: hepatoblastoma subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:2657 xref: ICD10CM:C22.2 xref: ICDO:8970/3 xref: MESH:D018197 xref: NCI:C3728 xref: SNOMEDCT_US_2023_03_01:109843000 xref: UMLS_CUI:C0206624 is_a: DOID:3571 ! liver cancer [Term] id: DOID:6870 name: obsolete cockade nevus synonym: "Cockade nevus (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:6871 name: spinal cord neuroblastoma subset: NCIthesaurus synonym: "neuroblastoma of the Spinal Cord" EXACT [] xref: NCI:C5155 xref: UMLS_CUI:C1336046 is_a: DOID:6872 ! spinal cord primitive neuroectodermal neoplasm [Term] id: DOID:6872 name: spinal cord primitive neuroectodermal neoplasm subset: NCIthesaurus synonym: "Spinal Cord PNET" EXACT [] xref: NCI:C5406 xref: UMLS_CUI:C1336048 is_a: DOID:171 ! neuroectodermal tumor is_a: DOID:5612 ! spinal cancer [Term] id: DOID:6873 name: skin tag def: "A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease." [url:https\://en.wikipedia.org/wiki/Skin_tag] subset: NCIthesaurus synonym: "cutaneous tag" EXACT [] synonym: "Fibroepithelial polyp" EXACT [] synonym: "Fibroepithelial polyp of skin" EXACT [] synonym: "soft fibroma" EXACT [] xref: NCI:C3374 xref: SNOMEDCT_US_2023_03_01:156440000 xref: UMLS_CUI:C0037293 is_a: DOID:2053 ! reactive cutaneous fibrous lesion [Term] id: DOID:6874 name: obsolete type 1a ALPS is_obsolete: true [Term] id: DOID:6876 name: obsolete mixed childhood rhabdomyosarcoma synonym: "pediatric mixed type Rhabdomyosarcoma" EXACT [] is_obsolete: true [Term] id: DOID:6879 name: obsolete hamartoma of Apocrine Sweat gland synonym: "hamartoma of the Apocrine Sweat gland" EXACT [] is_obsolete: true [Term] id: DOID:688 name: embryonal cancer def: "A germ cell cancer that is associated with an embryo." [url:http\://www.cancer.gov/dictionary/?CdrID=44250] subset: NCIthesaurus synonym: "embryo neoplasm" EXACT [] synonym: "embryonal neoplasm" EXACT [] xref: MESH:D009373 xref: NCI:C3264 xref: UMLS_CUI:C0027654 is_a: DOID:2994 ! germ cell cancer [Term] id: DOID:6880 name: small bowel fibrosarcoma def: "A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel." [url:http\://en.wikipedia.org/wiki/Fibrosarcoma] subset: NCIthesaurus synonym: "Fibrosarcoma, small Intestine" EXACT [] xref: NCI:C5336 xref: UMLS_CUI:C1335994 is_a: DOID:3355 ! fibrosarcoma is_a: DOID:5272 ! small intestinal sarcoma [Term] id: DOID:6886 name: ureter small cell carcinoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "ureteral small cell carcinoma" EXACT [] xref: NCI:C6176 xref: UMLS_CUI:C1336878 is_a: DOID:11819 ! ureter cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:6887 name: obsolete recurrent ureteric cancer synonym: "recurrent Ureter carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:6888 name: ureter transitional cell carcinoma subset: NCIthesaurus synonym: "transitional cell carcinoma of ureter" EXACT [] synonym: "ureteral Urothelial cell carcinoma" EXACT [] xref: NCI:C4830 xref: SNOMEDCT_US_2023_03_01:300988009 xref: UMLS_CUI:C0577692 is_a: DOID:2671 ! transitional cell carcinoma is_a: DOID:4939 ! ureter carcinoma [Term] id: DOID:6893 name: obsolete AIDS-related cervical cancer synonym: "AIDS Related carcinoma of the uterine Cervix" EXACT [] is_obsolete: true [Term] id: DOID:6894 name: obsolete AIDS-related cervical Kaposi's sarcoma synonym: "AIDS-Related Kaposi's sarcoma of Cervix" EXACT [] is_obsolete: true [Term] id: DOID:6895 name: obsolete AIDS-related Kaposi's sarcoma def: "A Kaposi's sarcoma and AIDS-related malignancy that results_in the occurence of Kaposi's sarcoma in people that have progressed to AIDS." [url:http\://en.wikipedia.org/wiki/Kaposi%27s_sarcoma] synonym: "AIDS with Kaposi's sarcoma (disorder)" EXACT [] synonym: "Autoimmune deficiency syndrome-Related Kaposi sarcoma" EXACT [] synonym: "Epidemic Kaposi's sarcoma" EXACT [] synonym: "HIV disease resulting in Kaposi's sarcoma (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:6897 name: obsolete Malposition and malpresentation of fetus is_obsolete: true [Term] id: DOID:6898 name: ovarian seromucinous carcinoma alt_id: DOID:6899 def: "An ovarian carcinoma that is biphasic and has_material_basis_in epithelial and mesenchymal elements." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24643255] subset: NCIthesaurus synonym: "mixed epithelial carcinoma of Ovary" EXACT [] synonym: "ovary mixed epithelial carcinoma" EXACT [] xref: NCI:C40090 xref: UMLS_CUI:C0279392 is_a: DOID:4001 ! ovarian carcinoma [Term] id: DOID:6899 name: obsolete malignant ovarian mixed epithelial neoplasm def: "A mixed epithelial tumor of ovary that is cancerous." [] is_obsolete: true [Term] id: DOID:69 name: obsolete hemopoetic tissue disease is_obsolete: true [Term] id: DOID:690 name: obsolete childhood cancer of liver synonym: "pediatric cancer of the Liver" EXACT [] synonym: "pediatric carcinoma of the Liver cell" EXACT [] is_obsolete: true [Term] id: DOID:6901 name: familiar ovarian carcinoma subset: NCIthesaurus xref: NCI:C36102 xref: UMLS_CUI:C1333992 is_a: DOID:2152 ! ovary epithelial cancer [Term] id: DOID:6903 name: eye lymphoma def: "A lymphoma by site that is manifested in immune system cells called lymphocytes." [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_eye_cancer_74.asp] subset: NCIthesaurus synonym: "malignant lymphoma of eye" EXACT [] xref: NCI:C35690 xref: SNOMEDCT_US_2023_03_01:312939009 xref: UMLS_CUI:C0730306 is_a: DOID:0060058 ! lymphoma is_a: DOID:2174 ! ocular cancer [Term] id: DOID:6905 name: obsolete AIDS-related herpes zoster def: "A herpes zoster that is complicated_by AIDS." [url:http\://www.aidsinfonet.org/fact_sheets/view/509] is_obsolete: true [Term] id: DOID:6906 name: glomangiomatosis def: "A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28656356] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8711/1 xref: NCI:C27496 xref: SNOMEDCT_US_2023_03_01:703603008 xref: UMLS_CUI:C1333824 is_a: DOID:5238 ! benign perivascular tumor [Term] id: DOID:6917 name: predominantly cortical thymoma subset: NCIthesaurus synonym: "Lymphocyte-Predominant Thymoma" EXACT [] synonym: "Thymoma, organoid" EXACT [] xref: NCI:C6887 xref: SNOMEDCT_US_2023_03_01:128711009 xref: UMLS_CUI:C1266094 is_a: DOID:3282 ! thymoma type B [Term] id: DOID:6919 name: obsolete extramucosal (perianal) adenocarcinoma alt_id: DOID:6918 synonym: "adenocarcinoma of anus within Anorectal fistula" EXACT [] synonym: "adenocarcinoma of the anus within Anorectal fistula" EXACT [] synonym: "Extramucosal (Perianal) adenocarcinoma of anus" EXACT [] synonym: "extramucosal (perianal) adenocarcinoma of the anus" RELATED [] is_obsolete: true [Term] id: DOID:6923 name: obsolete fibrolipomatous hamartoma of peripheral nerve is_obsolete: true [Term] id: DOID:6925 name: peroneal nerve paralysis subset: NCIthesaurus synonym: "Peroneal nerve palsy" EXACT [] xref: ICD10CM:G57.3 xref: MESH:D020427 xref: NCI:C27061 xref: SNOMEDCT_US_2023_03_01:34553007 xref: UMLS_CUI:C0270810 is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:6929 name: retinal edema xref: ICD10CM:H35.81 xref: ICD9CM:362.83 xref: MESH:D010211 xref: SNOMEDCT_US_2023_03_01:6141006 xref: UMLS_CUI:C0242420 is_a: DOID:5679 ! retinal disease [Term] id: DOID:693 name: dental enamel hypoplasia subset: NCIthesaurus synonym: "enamel hypoplasia" EXACT [] xref: MESH:D003744 xref: NCI:C34529 xref: SNOMEDCT_US_2023_03_01:196277000 xref: UMLS_CUI:C0011351 is_a: DOID:214 ! teeth hard tissue disease [Term] id: DOID:6931 name: papillary extrahepatic bile duct adenocarcinoma xref: UMLS_CUI:C0861858 is_a: DOID:3495 ! extrahepatic bile duct adenocarcinoma [Term] id: DOID:6932 name: urinary bladder inverted papilloma subset: NCIthesaurus xref: NCI:C39859 xref: SNOMEDCT_US_2023_03_01:447765004 xref: UMLS_CUI:C1511190 is_a: DOID:0050623 ! bladder benign neoplasm is_a: DOID:2615 ! papilloma [Term] id: DOID:6933 name: bladder transitional cell papilloma alt_id: DOID:2141 subset: NCIthesaurus synonym: "bladder papilloma" EXACT [] synonym: "transitional cell papilloma of bladder" EXACT [] synonym: "urinary bladder Urothelial papilloma" EXACT [] synonym: "Urothelial papilloma" EXACT [] xref: NCI:C3842 xref: NCI:C39858 xref: SNOMEDCT_US_2023_03_01:189459005 xref: SNOMEDCT_US_2023_03_01:45083001 xref: UMLS_CUI:C0235754 xref: UMLS_CUI:C1384678 is_a: DOID:5432 ! bladder papillary transitional cell neoplasm [Term] id: DOID:6934 name: urethra inverted papilloma subset: NCIthesaurus synonym: "Inverted papilloma of the urethra" EXACT [] xref: NCI:C6173 xref: UMLS_CUI:C1336887 is_a: DOID:2140 ! urethral urothelial papilloma is_a: DOID:2615 ! papilloma [Term] id: DOID:6935 name: ureter inverted papilloma subset: NCIthesaurus synonym: "ureteral Inverted papilloma" EXACT [] xref: NCI:C6174 xref: UMLS_CUI:C1336874 is_a: DOID:2615 ! papilloma is_a: DOID:6936 ! ureter urothelial papilloma [Term] id: DOID:6936 name: ureter urothelial papilloma subset: NCIthesaurus xref: NCI:C6160 xref: UMLS_CUI:C1519823 is_a: DOID:11885 ! ureteral benign neoplasm [Term] id: DOID:6938 name: childhood intraocular retinoblastoma def: "An intraocular retinoblastoma that effects children." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29737052] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric intraocular retinoblastoma" EXACT [] xref: NCI:C9047 xref: UMLS_CUI:C1321869 is_a: DOID:4653 ! intraocular retinoblastoma [Term] id: DOID:6939 name: childhood brain meningioma def: "A brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin." [url:https\://en.wikipedia.org/wiki/Meningioma, url:https\://www.ncbi.nlm.nih.gov/pubmed/15886506] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric meningioma of brain" EXACT [] xref: NCI:C6253 xref: UMLS_CUI:C1332949 is_a: DOID:0060106 ! brain meningioma [Term] id: DOID:6943 name: vulvar inverted follicular keratosis def: "An inverted follicular keratosis that is located_in the vulva." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11109167] subset: NCIthesaurus xref: NCI:C40291 xref: UMLS_CUI:C1520084 is_a: DOID:6944 ! vulvar seborrheic keratosis is_a: DOID:6945 ! inverted follicular keratosis [Term] id: DOID:6944 name: vulvar seborrheic keratosis subset: NCIthesaurus synonym: "Seborrheic Keratosis of Vulva" EXACT [] xref: NCI:C6375 xref: UMLS_CUI:C1336981 is_a: DOID:0060109 ! vulvar benign neoplasm is_a: DOID:6498 ! seborrheic keratosis [Term] id: DOID:6945 name: inverted follicular keratosis subset: NCIthesaurus synonym: "Inverted folicular keratosis" EXACT [] xref: NCI:C9007 xref: SNOMEDCT_US_2023_03_01:201096007 xref: UMLS_CUI:C0334019 is_a: DOID:6498 ! seborrheic keratosis [Term] id: DOID:6947 name: sphenoidal sinus benign neoplasm subset: NCIthesaurus synonym: "neoplasm of sphenoidal sinus" EXACT [] synonym: "tumor of Sphenoidal sinus" EXACT [] xref: NCI:C6792 xref: SNOMEDCT_US_2023_03_01:126679002 xref: UMLS_CUI:C0345676 is_a: DOID:1350 ! paranasal sinus benign neoplasm [Term] id: DOID:6948 name: malignant gastric teratoma def: "A malignant teratoma that has_material_basis_in gastric tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2067992] subset: NCIthesaurus synonym: "malignant teratoma of stomach" EXACT [] xref: NCI:C5256 xref: UMLS_CUI:C1334151 is_a: DOID:4716 ! malignant gastric germ cell tumor [Term] id: DOID:6950 name: combat disorder def: "An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress." [url:http\://neurolex.org/wiki/Category\:Combat_Disorder] synonym: "Combat Neurosis" EXACT [] xref: MESH:D003130 xref: UMLS_CUI:C0009426 is_a: DOID:6088 ! acute stress disorder [Term] id: DOID:6951 name: telangiectatic osteogenic sarcoma subset: NCIthesaurus synonym: "Telangiectatic osteosarcoma" EXACT [] xref: NCI:C3902 xref: SNOMEDCT_US_2023_03_01:78453009 xref: UMLS_CUI:C0259782 is_a: DOID:7602 ! conventional osteosarcoma [Term] id: DOID:6954 name: obsolete Epstein-Barr virus related lymphoma def: "An Epstein-Barr virus infectious disease and is_a lymphoma that derives_from lymphocytes, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the lymphocytes that it infects." [url:http\://lymphoma.about.com/od/riskfactors/qt/ebvlymphoma.htm] synonym: "EBV Related Lymphoma" EXACT [] is_obsolete: true [Term] id: DOID:6955 name: obsolete intracranial melanoma is_obsolete: true [Term] id: DOID:6956 name: obsolete malignant intracranial neoplasm By Morphology is_obsolete: true [Term] id: DOID:6958 name: aleukemic monocytic leukemia cutis def: "An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C5630] subset: NCIthesaurus xref: NCI:C5630 xref: UMLS_CUI:C1332232 is_a: DOID:6003 ! aleukemic leukemia cutis [Term] id: DOID:6959 name: rectal cloacogenic carcinoma subset: NCIthesaurus synonym: "transitional Zone carcinoma of rectum" EXACT [] xref: NCI:C5555 xref: UMLS_CUI:C1333074 is_a: DOID:5528 ! rectum squamous cell carcinoma [Term] id: DOID:6961 name: Bartholin's gland squamous cell carcinoma def: "A Bartholin's gland carcinoma that derives_from squamous epithelial cells." [url:https\://en.wikipedia.org/wiki/Bartholin_gland_carcinoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/22369423] subset: NCIthesaurus synonym: "Bartholin gland squamous cell carcinoma" EXACT [] xref: NCI:C40293 xref: UMLS_CUI:C1511052 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:3999 ! Bartholin's gland carcinoma [Term] id: DOID:6962 name: obsolete recurrent cancer of skin synonym: "recurrent Cutaneous carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:6969 name: acute canaliculitis def: "An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal caniculi, has_symptom epiphora, has_symptom conjunctivitis, has_symptom eyelid mattering and has_symptom purulent discharge." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16845316] synonym: "acute canaliculitis, lacrimal" EXACT [] synonym: "acute lacrimal canaliculitis" EXACT [] xref: ICD10CM:H04.33 xref: ICD9CM:375.31 xref: SNOMEDCT_US_2023_03_01:84399007 xref: UMLS_CUI:C0339130 is_a: DOID:6970 ! acute inflammation of lacrimal passage [Term] id: DOID:6970 name: acute inflammation of lacrimal passage xref: ICD10CM:H04.3 xref: ICD9CM:375.3 xref: SNOMEDCT_US_2023_03_01:302900006 xref: UMLS_CUI:C0339129 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:6975 name: bladder urothelial papillary carcinoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "urothelial papillary carcinoma of the bladder" RELATED [] xref: NCI:C7383 xref: UMLS_CUI:C1518882 is_a: DOID:4006 ! bladder urothelial carcinoma [Term] id: DOID:6976 name: micropapillary variant infiltrating bladder urothelial carcinoma subset: NCIthesaurus xref: NCI:C27202 xref: UMLS_CUI:C1517579 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma [Term] id: DOID:6977 name: pancreatic cholera subset: NCIthesaurus synonym: "Excessive vasoactive intestinal peptide secretion" EXACT [] synonym: "pancreatic WDHA syndrome" EXACT [] synonym: "Verner-Morrison syndrome" EXACT [] xref: MESH:D003969 xref: NCI:C3488 xref: SNOMEDCT_US_2023_03_01:70091000 xref: UMLS_CUI:C0086768 is_a: DOID:1428 ! endocrine pancreas disease [Term] id: DOID:698 name: dentin sensitivity subset: NCIthesaurus synonym: "Sensitive dentin" EXACT [] xref: MESH:D003807 xref: NCI:C50778 xref: SNOMEDCT_US_2023_03_01:13468005 xref: UMLS_CUI:C0011432 is_a: DOID:214 ! teeth hard tissue disease [Term] id: DOID:6980 name: obsolete recurrent rectosigmoid cancer synonym: "relapsed Rectosigmoid cancer" EXACT [] is_obsolete: true [Term] id: DOID:6981 name: obsolete recurrent colorectal cancer synonym: "Colorectal carcinoma recurrent" EXACT [] is_obsolete: true [Term] id: DOID:6988 name: peripheral epithelioid sarcoma subset: NCIthesaurus xref: NCI:C27473 xref: UMLS_CUI:C1333306 is_a: DOID:6193 ! epithelioid sarcoma [Term] id: DOID:6989 name: obsolete non-neoplastic non-molar trophoblastic disorder is_obsolete: true [Term] id: DOID:699 name: mitochondrial myopathy def: "A myopathy that is characterized by mitochondrial dysfunction." [url:http\://en.wikipedia.org/wiki/Mitochondrial_myopathies, url:http\://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "mitochondrial cytopathy" EXACT [] xref: MESH:D017240 xref: MIM:251900 xref: NCI:C101328 xref: SNOMEDCT_US_2023_03_01:240096000 xref: UMLS_CUI:C0162670 is_a: DOID:423 ! myopathy [Term] id: DOID:6990 name: obsolete placental site nodule or plaque is_obsolete: true [Term] id: DOID:6991 name: obsolete exaggerated placental site synonym: "Exaggerated placental site (disorder)" EXACT [] synonym: "Exaggerated placental site (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:6992 name: intraocular mixed cell type melanoma subset: NCIthesaurus synonym: "mixed cell type Uveal melanoma" EXACT [] xref: NCI:C7989 xref: UMLS_CUI:C0279693 is_a: DOID:1752 ! ocular melanoma [Term] id: DOID:6993 name: iris mixed cell melanoma subset: NCIthesaurus xref: NCI:C6101 xref: UMLS_CUI:C1334210 is_a: DOID:6992 ! intraocular mixed cell type melanoma is_a: DOID:6994 ! malignant iris melanoma [Term] id: DOID:6994 name: malignant iris melanoma subset: NCIthesaurus synonym: "malignant melanoma of iris" EXACT [] synonym: "melanoma of the Iris" EXACT [] xref: NCI:C9088 xref: SNOMEDCT_US_2023_03_01:255012009 xref: UMLS_CUI:C0346373 is_a: DOID:3478 ! iris cancer [Term] id: DOID:6995 name: obsolete metastasis to the kidney synonym: "metastasis to kidney" EXACT [] synonym: "metastatic neoplasm to the kidney" EXACT [] synonym: "secondary malignant neoplasm of kidney" EXACT [] synonym: "secondary malignant neoplasm of kidney (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:6996 name: intermediate cell type choroid melanoma subset: NCIthesaurus synonym: "mixed cell melanoma of Choroid" EXACT [] xref: NCI:C6100 xref: UMLS_CUI:C1334208 is_a: DOID:6438 ! malignant choroid melanoma is_a: DOID:6992 ! intraocular mixed cell type melanoma [Term] id: DOID:6997 name: intermediate cell type ciliary body melanoma subset: NCIthesaurus xref: NCI:C6118 xref: UMLS_CUI:C1334209 is_a: DOID:6524 ! malignant ciliary body melanoma is_a: DOID:6992 ! intraocular mixed cell type melanoma [Term] id: DOID:6998 name: gallbladder mucinous carcinoma subset: NCIthesaurus synonym: "Colloidal carcinoma of the gallbladder" EXACT [] xref: NCI:C5744 xref: UMLS_CUI:C1333750 is_a: DOID:4948 ! gallbladder carcinoma [Term] id: DOID:6999 name: obsolete lung recurrent squamous cell carcinoma synonym: "recurrent squamous cell carcinoma of lung" RELATED [] synonym: "recurrent squamous cell carcinoma of the lung" EXACT [] is_obsolete: true [Term] id: DOID:7 name: disease of anatomical entity alt_id: DOID:1 alt_id: DOID:2 alt_id: DOID:5 alt_id: DOID:71 alt_id: DOID:72 alt_id: DOID:8 def: "A disease that manifests in a defined anatomical structure." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=anatomic] subset: DO_RAD_slim is_a: DOID:4 ! disease [Term] id: DOID:70 name: obsolete lymphoid tissue disease is_obsolete: true [Term] id: DOID:700 name: mitochondrial metabolism disease def: "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction." [url:http\://en.wikipedia.org/wiki/Mitochondrial_disease] subset: DO_FlyBase_slim subset: DO_rare_slim xref: GARD:7048 xref: MESH:D028361 xref: SNOMEDCT_US_2023_03_01:240096000 xref: UMLS_CUI:C0751651 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:7001 name: obsolete recurrent large cell carcinoma of lung synonym: "relapsed large cell carcinoma of the lung" EXACT [] is_obsolete: true [Term] id: DOID:7002 name: obsolete recurrent adenocarcinoma of lung synonym: "lung Adenocarcinoma, recurrent" EXACT [] is_obsolete: true [Term] id: DOID:7003 name: obsolete malignant vaginal mixed tumor resembling synovial sarcoma is_obsolete: true [Term] id: DOID:7004 name: ACTH-secreting pituitary adenoma def: "A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome." [url:http\://en.wikipedia.org/wiki/Cushing%27s_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "ACTH-Producing Pituitary Adenoma" EXACT [] synonym: "Corticotroph adenoma" EXACT [] synonym: "Corticotropinoma" EXACT [] xref: GARD:12867 xref: MESH:D049913 xref: MIM:219090 xref: NCI:C7462 xref: SNOMEDCT_US_2023_03_01:254958004 xref: UMLS_CUI:C1306214 is_a: DOID:5395 ! functioning pituitary adenoma property_value: exactMatch "MESH:D049913" xsd:string [Term] id: DOID:7005 name: gemistocytic astrocytoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Gemistocytic Astrocytic tumor" EXACT [] xref: ICDO:9411/3 xref: MESH:D001254 xref: NCI:C4321 xref: SNOMEDCT_US_2023_03_01:73982001 xref: UMLS_CUI:C0334581 is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:7006 name: obsolete childhood cerebral diffuse astrocytoma is_obsolete: true [Term] id: DOID:7007 name: childhood cerebral astrocytoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric astrocytoma of Cerebrum" EXACT [] xref: MESH:D001254 xref: NCI:C4347 xref: UMLS_CUI:C0338070 is_a: DOID:368 ! cerebrum cancer [Term] id: DOID:7008 name: protoplasmic astrocytoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Protoplasmic Astrocytic tumor" EXACT [] xref: ICDO:9410/3 xref: MESH:D001254 xref: NCI:C4320 xref: SNOMEDCT_US_2023_03_01:55094006 xref: UMLS_CUI:C0334580 is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:7009 name: obsolete adult diffuse astrocytoma is_obsolete: true [Term] id: DOID:701 name: dentin dysplasia def: "A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology." [url:http\://en.wikipedia.org/wiki/Dentin_dysplasia] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Dentinal dysplasia" EXACT [] xref: ICD10CM:K00.5 xref: MESH:D003805 xref: MIM:125400 xref: MIM:125420 xref: ORDO:1635 xref: SNOMEDCT_US_2023_03_01:109492001 xref: UMLS_CUI:C0011430 is_a: DOID:214 ! teeth hard tissue disease [Term] id: DOID:7011 name: obsolete recurrent thyroid carcinoma synonym: "relapsed cancer of the Thyroid" EXACT [] is_obsolete: true [Term] id: DOID:7012 name: obsolete anaplastic thyroid carcinoma synonym: "anaplastic thyroid carcinoma (disorder)" EXACT [] synonym: "sarcomatoid Thyroid carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:7013 name: ovarian mucinous cystadenofibroma def: "An ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24772358] subset: NCIthesaurus xref: NCI:C40041 xref: UMLS_CUI:C1518725 is_a: DOID:6469 ! ovarian mucinous adenofibroma [Term] id: DOID:7014 name: infiltrating lipoma subset: NCIthesaurus synonym: "intramuscular lipoma" EXACT [] xref: NCI:C7450 xref: SNOMEDCT_US_2023_03_01:24045002 xref: UMLS_CUI:C0334473 is_a: DOID:3315 ! lipoma [Term] id: DOID:7015 name: obsolete deep fatty neoplasm synonym: "Deep Fatty tumor" EXACT [] is_obsolete: true [Term] id: DOID:7016 name: tendon sheath lipoma def: "A synovium neoplasm that is located_in the tendon sheath." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26665243] subset: NCIthesaurus synonym: "Lipoma of the Tendon Sheath" EXACT [] xref: NCI:C6499 xref: UMLS_CUI:C1336703 is_a: DOID:315 ! synovium neoplasm is_a: DOID:3315 ! lipoma [Term] id: DOID:7017 name: lumbosacral lipoma subset: NCIthesaurus xref: NCI:C6500 xref: UMLS_CUI:C1334438 is_a: DOID:0060094 ! bone benign neoplasm is_a: DOID:3315 ! lipoma [Term] id: DOID:7018 name: obsolete secondary malignant neoplasm to the adult brain synonym: "metastatic tumor to the adult brain" EXACT [] is_obsolete: true [Term] id: DOID:702 name: obsolete tooth abnormality synonym: "Congenital anomaly of teeth (disorder)" EXACT [] synonym: "congenital dentition disorder" EXACT [] is_obsolete: true [Term] id: DOID:7023 name: obsolete borderline ovarian serous neoplasm with microinvasion is_obsolete: true [Term] id: DOID:7024 name: mucinous intrahepatic cholangiocarcinoma subset: NCIthesaurus xref: NCI:C41618 xref: UMLS_CUI:C1513718 is_a: DOID:4928 ! intrahepatic cholangiocarcinoma [Term] id: DOID:7025 name: obsolete anaplastic malignant intracranial meningioma is_obsolete: true [Term] id: DOID:7026 name: obsolete adult malignant meningioma synonym: "adult anaplastic (malignant) meningioma" EXACT [] synonym: "WHO grade III meningioma" EXACT [] is_obsolete: true [Term] id: DOID:7029 name: obsolete site specific early onset breast cancer syndrome is_obsolete: true [Term] id: DOID:7030 name: bronchial mucus gland adenoma subset: NCIthesaurus synonym: "adenoma of bronchial mucus gland" RELATED [] synonym: "adenoma of the Bronchial Mucus gland" EXACT [] xref: NCI:C5664 xref: SNOMEDCT_US_2023_03_01:838297005 xref: UMLS_CUI:C1332640 is_a: DOID:5391 ! bronchus adenoma [Term] id: DOID:7031 name: glottis squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the glottis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24760498] subset: NCIthesaurus synonym: "Epidermoid carcinoma of the Glottis" EXACT [] synonym: "squamous cell carcinoma of glottis" RELATED [] xref: NCI:C8186 xref: UMLS_CUI:C0280325 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:2599 ! glottis carcinoma [Term] id: DOID:7032 name: bile duct clear cell adenocarcinoma def: "A clear cell adenocarcinoma that is located_in the bile duct." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19144165] subset: NCIthesaurus synonym: "bile duct clear cell carcinoma" EXACT [] xref: NCI:C5775 xref: UMLS_CUI:C0861855 is_a: DOID:4896 ! bile duct adenocarcinoma [Term] id: DOID:7033 name: anisakiasis def: "A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Anisakiasis.htm, url:http\://www.merck.com/mmpe/sec14/ch182/ch182c.html?qt=Anisakiasis&alt=sh, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC358121/pdf/cmr00053-0060.pdf] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Infection by Anisakis larva" EXACT [] xref: GARD:693 xref: ICD10CM:B81.0 xref: ICD9CM:127.1 xref: MESH:D017129 xref: NCI:C128393 xref: SNOMEDCT_US_2023_03_01:442652006 xref: UMLS_CUI:C0162576 is_a: DOID:883 ! parasitic helminthiasis infectious disease property_value: exactMatch "MESH:D017129" xsd:string [Term] id: DOID:7037 name: childhood immature teratoma of ovary def: "An immature teratoma of overy that presents in childhood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3983017] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric Immature teratoma of Ovary" EXACT [] xref: NCI:C6547 xref: UMLS_CUI:C1332990 is_a: DOID:6331 ! immature teratoma of ovary [Term] id: DOID:7039 name: Borst-Jadassohn intraepidermal carcinoma synonym: "Bowen's disease, clonal" EXACT [] synonym: "Intraepidermal Epithelioma of Jadassohn" EXACT [] xref: SNOMEDCT_US_2023_03_01:403886007 xref: UMLS_CUI:C0334260 is_a: DOID:3451 ! skin carcinoma [Term] id: DOID:7040 name: uveal epithelioid cell melanoma subset: NCIthesaurus xref: NCI:C35780 xref: UMLS_CUI:C1333422 is_a: DOID:4360 ! epithelioid cell melanoma is_a: DOID:6039 ! uveal melanoma [Term] id: DOID:7041 name: choroid epithelioid cell melanoma subset: NCIthesaurus synonym: "Choroidal epithelioid cell melanoma" EXACT [] xref: NCI:C6102 xref: UMLS_CUI:C1333024 is_a: DOID:4360 ! epithelioid cell melanoma is_a: DOID:6438 ! malignant choroid melanoma [Term] id: DOID:7042 name: ciliary body epithelioid cell melanoma subset: NCIthesaurus xref: NCI:C6119 xref: UMLS_CUI:C1333050 is_a: DOID:4352 ! ciliary body cancer is_a: DOID:7040 ! uveal epithelioid cell melanoma [Term] id: DOID:7043 name: obsolete metastatic vulvar cancer synonym: "metastatic Vulvar carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:7045 name: basaloid lung carcinoma subset: NCIthesaurus xref: NCI:C7266 xref: UMLS_CUI:C1332463 is_a: DOID:3907 ! lung squamous cell carcinoma [Term] id: DOID:7046 name: cervical basaloid squamous cell carcinoma def: "A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30695899, url:https\://www.ncbi.nlm.nih.gov/pubmed/31393622] subset: NCIthesaurus xref: NCI:C40189 xref: UMLS_CUI:C1511063 is_a: DOID:3744 ! cervical squamous cell carcinoma [Term] id: DOID:7047 name: penis basaloid carcinoma subset: NCIthesaurus synonym: "squamous cell carcinoma of penis, Basaloid type" EXACT [] xref: NCI:C6980 xref: UMLS_CUI:C1332462 is_a: DOID:5518 ! penis squamous cell carcinoma [Term] id: DOID:7048 name: vulvar basaloid squamous cell carcinoma def: "A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm." [url:https\://www.hindawi.com/journals/jsc/2011/951250/] subset: NCIthesaurus synonym: "vulvar basaloid carcinoma" EXACT [] xref: NCI:C40286 is_a: DOID:2101 ! vulva squamous cell carcinoma [Term] id: DOID:7049 name: basaloid squamous cell skin carcinoma subset: NCIthesaurus synonym: "skin Basaloid squamous cell carcinoma" EXACT [] xref: NCI:C27543 xref: UMLS_CUI:C1335973 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4159 ! skin cancer [Term] id: DOID:705 name: Leber hereditary optic neuropathy comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Leber's hereditary optic neuropathy" EXACT [] synonym: "Leber's optic atrophy" EXACT [] xref: GARD:6870 xref: ICD10CM:H47.22 xref: MESH:D029242 xref: MIM:535000 xref: NCI:C84808 xref: SNOMEDCT_US_2023_03_01:194045006 xref: UMLS_CUI:C0917796 is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:7050 name: thymus basaloid carcinoma subset: NCIthesaurus synonym: "Basaloid carcinoma of the Thymus" EXACT [] xref: NCI:C6456 xref: UMLS_CUI:C1332464 is_a: DOID:305 ! carcinoma is_a: DOID:3277 ! thymus cancer [Term] id: DOID:7051 name: esophageal basaloid squamous cell carcinoma subset: NCIthesaurus synonym: "Basaloid squamous carcinoma of esophagus" EXACT [] xref: NCI:C7032 xref: UMLS_CUI:C1333443 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:5041 ! esophageal cancer [Term] id: DOID:7053 name: obsolete anaplastic small cell thyroid carcinoma synonym: "Undifferentiated small cell carcinoma of the Thyroid gland" EXACT [] is_obsolete: true [Term] id: DOID:7054 name: multiple skull base meningioma subset: NCIthesaurus xref: NCI:C5279 xref: UMLS_CUI:C1334829 is_a: DOID:4437 ! skull base meningioma [Term] id: DOID:706 name: mature B-cell neoplasm subset: DO_cancer_slim subset: NCIthesaurus synonym: "mature B-cell lymphocytic neoplasm" EXACT [] xref: EFO:0000096 xref: NCI:C27910 xref: UMLS_CUI:C1334633 is_a: DOID:707 ! B-cell lymphoma [Term] id: DOID:7061 name: obsolete precursor B lymphoblastic lymphoma/leukemia def: "A precursor lymphoblastic lymphoma/leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow." [url:https\://en.wikipedia.org/wiki/Precursor_B-cell_lymphoblastic_leukemia] is_obsolete: true [Term] id: DOID:707 name: B-cell lymphoma def: "A non-Hodgkin lymphoma that has_material_basis_in B cells." [url:http\://en.wikipedia.org/wiki/B-cell_lymphoma] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "B-cell lymphocytic neoplasm" EXACT [] xref: GARD:5877 xref: MESH:D016393 xref: NCI:C3457 xref: SNOMEDCT_US_2023_03_01:109979007 xref: UMLS_CUI:C0079731 is_a: DOID:0060060 ! non-Hodgkin lymphoma [Term] id: DOID:7070 name: obsolete recurrent pediatric rhabdomyosarcoma synonym: "relapsed pediatric Rhabdomyosarcoma" EXACT [] is_obsolete: true [Term] id: DOID:7071 name: spinal cord dermoid cyst def: "A dermoid cyst that is located_in the spinal cord." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23772254] subset: NCIthesaurus synonym: "Spinal Cord Dermoid" EXACT [] xref: NCI:C6808 xref: SNOMEDCT_US_2023_03_01:830015009 xref: UMLS_CUI:C1333278 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:2658 ! dermoid cyst is_a: DOID:319 ! spinal cord disease [Term] id: DOID:7074 name: obsolete choroidal hemorrhage and rupture synonym: "Choroidal hemorrhage and rupture (disorder)" EXACT [] synonym: "Choroidal hemorrhage or rupture NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:7075 name: obsolete atypical vulvar nevus is_obsolete: true [Term] id: DOID:7076 name: breast lipid-rich carcinoma def: "A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40365] subset: NCIthesaurus synonym: "lipid-rich breast carcinoma" EXACT [] xref: ICDO:8314/3 xref: NCI:C40365 xref: UMLS_CUI:C1517894 is_a: DOID:5658 ! lipid-rich carcinoma [Term] id: DOID:7077 name: malignant melanocytic peripheral nerve sheath tumor of mediastinum subset: NCIthesaurus synonym: "mediastinal melanocytic MPNST" EXACT [] xref: NCI:C6630 xref: UMLS_CUI:C1334600 is_a: DOID:1192 ! peripheral nervous system neoplasm is_a: DOID:5559 ! mediastinal cancer [Term] id: DOID:7078 name: obsolete malignant mediastinal peripheral nerve sheath tumor synonym: "MPNST of mediastinum" EXACT [] is_obsolete: true [Term] id: DOID:7079 name: adult cystic teratoma def: "A cystic teratoma that is present in an adult." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27038684] subset: NCIthesaurus xref: NCI:C9012 xref: SNOMEDCT_US_2023_03_01:42717009 xref: UMLS_CUI:C1368888 is_a: DOID:2660 ! cystic teratoma [Term] id: DOID:7081 name: lung mixed small cell and squamous cell carcinoma alt_id: DOID:7080 subset: NCIthesaurus synonym: "combined small and large cell lung cancer" EXACT [] synonym: "mixed small cell and squamous cell carcinoma of lung" RELATED [] synonym: "small cell and large cell carcinoma of the lung" EXACT [] synonym: "small cell and squamous cell carcinoma of the lung" EXACT [] xref: NCI:C9423 xref: UMLS_CUI:C1334788 is_a: DOID:5410 ! pulmonary neuroendocrine tumor [Term] id: DOID:7083 name: obsolete recurrent adult primary hepatoma is_obsolete: true [Term] id: DOID:7084 name: obsolete recurrent adult primary liver cancer synonym: "relapsed adult Liver cancer" EXACT [] is_obsolete: true [Term] id: DOID:7086 name: multicentric papillary thyroid carcinoma def: "A papillary thyroid carcinoma arising in the thyroid gland from multiple foci." [url:https\://pubmed.ncbi.nlm.nih.gov/30884463/] subset: NCIthesaurus synonym: "Multifocal papillary thyroid carcinoma (PTC)" EXACT [] xref: NCI:C37304 xref: UMLS_CUI:C1334817 is_a: DOID:3969 ! papillary thyroid carcinoma [Term] id: DOID:7088 name: columnar cell papillary thyroid carcinoma def: "A papillary thyroid carcinoma that is characterized by the presence of pseudostratified malignant follicular cells." [url:https\://pubmed.ncbi.nlm.nih.gov/33783022/] subset: NCIthesaurus synonym: "Columnar cell PTC" EXACT [] synonym: "Columnar cell variant (CCV)" EXACT [] synonym: "columnar cell variant papillary carcinoma" EXACT [] xref: ICDO:8344/3 xref: NCI:C35830 xref: UMLS_CUI:C1333120 is_a: DOID:3969 ! papillary thyroid carcinoma [Term] id: DOID:7089 name: tall cell papillary thyroid carcinoma def: "A papillary thyroid carcinoma that is characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns." [url:https\://pubmed.ncbi.nlm.nih.gov/32701516/] subset: NCIthesaurus synonym: "Tall cell PTC" EXACT [] synonym: "tall cell variant papillary carcinoma" EXACT [] synonym: "Tall Cell Variant Thyroid Gland Papillary Carcinoma" EXACT [] xref: NCI:C35558 xref: UMLS_CUI:C1336695 is_a: DOID:3969 ! papillary thyroid carcinoma [Term] id: DOID:709 name: splenic manifestation of hairy cell leukemia alt_id: DOID:10265 subset: NCIthesaurus synonym: "hairy cell leukaemia of spleen" EXACT [] synonym: "hairy cell leukemia of spleen" EXACT [] synonym: "splenic manifestation of hairy cell leukaemia" EXACT [] xref: ICD9CM:202.47 xref: NCI:C7301 xref: SNOMEDCT_US_2023_03_01:93151007 xref: UMLS_CUI:C0153832 xref: UMLS_CUI:C1336064 is_a: DOID:710 ! splenic manifestation of leukemia [Term] id: DOID:7095 name: childhood epithelioid sarcoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric epithelioid sarcoma" EXACT [] xref: NCI:C8095 xref: UMLS_CUI:C0279989 is_a: DOID:6193 ! epithelioid sarcoma [Term] id: DOID:7097 name: macrocystic pattern testicular yolk sac tumor subset: NCIthesaurus xref: NCI:C39924 xref: UMLS_CUI:C1515307 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:7099 name: obsolete ovarian dermoid cyst with squamous cell carcinoma is_obsolete: true [Term] id: DOID:710 name: splenic manifestation of leukemia def: "A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1492871/] subset: NCIthesaurus synonym: "splenic leukemia" RELATED [] xref: NCI:C7296 xref: UMLS_CUI:C1336065 is_a: DOID:672 ! spleen cancer [Term] id: DOID:7103 name: diaphragma sellae meningioma subset: NCIthesaurus synonym: "meningioma of Diaphragm Sellae" EXACT [] xref: NCI:C5283 xref: UMLS_CUI:C1333283 is_a: DOID:3643 ! sella turcica neoplasm is_a: DOID:4437 ! skull base meningioma [Term] id: DOID:7105 name: epiglottis neoplasm subset: NCIthesaurus synonym: "Epiglottic tumor" EXACT [] synonym: "neoplasm of epiglottis" EXACT [] xref: NCI:C4933 xref: SNOMEDCT_US_2023_03_01:126699008 xref: UMLS_CUI:C1290353 is_a: DOID:8002 ! supraglottis neoplasm [Term] id: DOID:711 name: refractory hairy cell leukemia def: "A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment." [url:http\://en.wikipedia.org/wiki/Hairy_cell_leukemia, url:http\://www.medterms.com/script/main/art.asp?articlekey=5274] subset: NCIthesaurus xref: ICD10CM:C91.42 xref: NCI:C142882 xref: UMLS_CUI:C0279780 is_a: DOID:285 ! hairy cell leukemia is_a: DOID:712 ! refractory hematologic cancer [Term] id: DOID:712 name: refractory hematologic cancer def: "A hematologic cancer that is located in the blood or bone marrow that doesn't respond to treatment." [url:http\://www.cancer.gov/dictionary/?CdrID=45708, url:http\://www.cancer.gov/templates/db_alpha.aspx?CdrID=45863] subset: NCIthesaurus xref: NCI:C27357 xref: UMLS_CUI:C1335724 is_a: DOID:2531 ! hematologic cancer [Term] id: DOID:7127 name: radiation cystitis subset: NCIthesaurus synonym: "Irradiation cystitis" EXACT [] xref: ICD10CM:N30.4 xref: ICD9CM:595.82 xref: NCI:C123174 xref: SNOMEDCT_US_2023_03_01:11251000 xref: UMLS_CUI:C0156270 is_a: DOID:1679 ! cystitis [Term] id: DOID:713 name: HCL-V subset: NCIthesaurus synonym: "Hairy cell leukaemia variant" EXACT [] synonym: "Hairy cell leukemia variant" EXACT [] xref: NCI:C7401 xref: SNOMEDCT_US_2023_03_01:54087003 xref: UMLS_CUI:C0349633 is_a: DOID:285 ! hairy cell leukemia [Term] id: DOID:7132 name: urinary bladder small cell neuroendocrine carcinoma subset: NCIthesaurus synonym: "small cell neuroendocrine carcinoma of the urinary bladder" RELATED [] synonym: "small cell/neuroendocrine carcinoma of urinary bladder" EXACT [] xref: NCI:C9461 xref: SNOMEDCT_US_2023_03_01:718604008 xref: UMLS_CUI:C1332564 is_a: DOID:4007 ! bladder carcinoma [Term] id: DOID:7133 name: gallbladder small cell carcinoma subset: NCIthesaurus synonym: "Oat cell carcinoma of the gallbladder" EXACT [] xref: NCI:C6763 xref: UMLS_CUI:C1333759 is_a: DOID:4948 ! gallbladder carcinoma [Term] id: DOID:7134 name: esophagus small cell carcinoma subset: NCIthesaurus synonym: "Oat cell carcinoma of esophagus" EXACT [] synonym: "Oat cell carcinoma of oesophagus" EXACT [] synonym: "oesophagus small cell carcinoma" EXACT [] xref: NCI:C6762 xref: UMLS_CUI:C1112474 is_a: DOID:1107 ! esophageal carcinoma [Term] id: DOID:7136 name: ampulla of Vater small cell carcinoma subset: NCIthesaurus synonym: "ampullary small cell carcinoma" EXACT [] xref: NCI:C6655 xref: UMLS_CUI:C1332250 is_a: DOID:4932 ! ampulla of Vater carcinoma [Term] id: DOID:7138 name: cystitis cystica def: "A cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28466074, url:https\://www.ncbi.nlm.nih.gov/pubmed/29552345] subset: NCIthesaurus xref: ICD9CM:595.81 xref: NCI:C96230 xref: SNOMEDCT_US_2023_03_01:13285005 xref: UMLS_CUI:C0152262 is_a: DOID:1679 ! cystitis [Term] id: DOID:7139 name: endometrial small cell carcinoma def: "An small cell carcinoma that has_material_basis_in small cells and located_in the endometrium." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24615329] subset: NCIthesaurus xref: NCI:C40155 xref: UMLS_CUI:C1516858 is_a: DOID:1380 ! endometrial cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:7140 name: Bartholin's gland small cell carcinoma def: "A small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and located_in Bartholin's gland." [url:https\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "Bartholin gland small cell carcinoma" NARROW [] xref: NCI:C40298 xref: UMLS_CUI:C1511051 is_a: DOID:3999 ! Bartholin's gland carcinoma [Term] id: DOID:7141 name: prostate small cell carcinoma synonym: "prostate Oat cell carcinoma" EXACT [] synonym: "small cell carcinoma of prostate" EXACT [] xref: SNOMEDCT_US_2023_03_01:396198006 xref: UMLS_CUI:C1300585 is_a: DOID:10283 ! prostate cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:7142 name: thymus small cell carcinoma subset: NCIthesaurus synonym: "small cell carcinoma of the Thymus" EXACT [] xref: NCI:C6460 xref: UMLS_CUI:C1335980 is_a: DOID:3284 ! thymic carcinoma [Term] id: DOID:7144 name: laryngeal small cell carcinoma subset: NCIthesaurus synonym: "small cell carcinoma of Larynx" EXACT [] xref: NCI:C6025 xref: UMLS_CUI:C1334378 is_a: DOID:2596 ! larynx cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:7145 name: obsolete papillary cystic tumor synonym: "Papillary cystic neoplasm" EXACT [] synonym: "Papillary cystic tumour" EXACT [] synonym: "solid pseudopapillary tumour" EXACT [] is_obsolete: true [Term] id: DOID:7146 name: Langerhans cell sarcoma def: "A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones." [url:http\://en.wikipedia.org/wiki/Langerhans_cell_sarcoma, url:https\://pubmed.ncbi.nlm.nih.gov/25805533/] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10491 xref: ICD10CM:C96.4 xref: ICDO:9756/3 xref: MESH:D054752 xref: NCI:C6921 xref: ORDO:86897 xref: SNOMEDCT_US_2023_03_01:724649000 xref: UMLS_CUI:C1260327 is_a: DOID:1115 ! sarcoma is_a: DOID:5621 ! histiocytic and dendritic cell cancer is_a: DOID:9500 ! leukocyte disease property_value: exactMatch "MESH:D054752" xsd:string [Term] id: DOID:7147 name: ankylosing spondylitis def: "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage." [url:http\://en.wikipedia.org/wiki/Ankylosing_spondylitis, url:http\://www.mayoclinic.com/health/ankylosing-spondylitis/DS00483, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000420.htm, url:http\://www.spondylitis.org/about/as.aspx] {comment="ls:IEDB"} subset: DO_rare_slim subset: NCIthesaurus synonym: "Bekhterev syndrome" EXACT [] synonym: "Bekhterev's disease" EXACT [] synonym: "Marie-Strumpell disease" EXACT [] xref: EFO:0003898 xref: GARD:9518 xref: ICD10CM:M45 xref: ICD9CM:720.0 xref: MESH:D013167 xref: MIM:PS106300 xref: NCI:C84564 xref: ORDO:825 xref: SNOMEDCT_US_2023_03_01:156619005 xref: UMLS_CUI:C0038013 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:0060564 ! spinal disease is_a: DOID:848 ! arthritis [Term] id: DOID:7148 name: rheumatoid arthritis def: "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint." [url:http\://en.wikipedia.org/wiki/Rheumatoid_arthritis, url:http\://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/home/ovc-20197388, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000431.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rheumatoid%20arthritis] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Arthritis or polyarthritis, rheumatic" EXACT [] synonym: "atrophic Arthritis" EXACT [] xref: EFO:0000685 xref: ICD10CM:M06.9 xref: ICD9CM:714.0 xref: KEGG:05323 xref: MESH:D001172 xref: MIM:180300 xref: NCI:C2884 xref: SNOMEDCT_US_2023_03_01:156471009 xref: UMLS_CUI:C0003873 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:848 ! arthritis [Term] id: DOID:7149 name: obsolete metastatic parathyroid cancer synonym: "metastatic Parathyroid carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:715 name: obsolete T-cell lymphoblastic leukemia/lymphoma is_obsolete: true [Term] id: DOID:7150 name: obsolete recurrent parathyroid cancer synonym: "recurrent Parathyroid carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:7152 name: prostate stromal sarcoma def: "A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate." [url:http\://www.pathologyoutlines.com/topic/prostatestromalsarcoma.html] subset: NCIthesaurus synonym: "Stromal sarcoma of the prostate" EXACT [] xref: NCI:C5524 xref: UMLS_CUI:C1335521 is_a: DOID:4054 ! prostate sarcoma [Term] id: DOID:7154 name: anaplastic oligodendroglioma def: "An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." [url:https\://en.wikipedia.org/wiki/Anaplastic_oligodendroglioma, url:https\://my.clevelandclinic.org/health/diseases/21191-oligodendroglioma, url:https\://www.cancer.gov/rare-brain-spine-tumor/tumors/oligodendroglioma] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C4326 is_a: DOID:3181 ! oligodendroglioma [Term] id: DOID:7155 name: obsolete adult undifferentiated oligodendroglioma is_obsolete: true [Term] id: DOID:7156 name: obsolete anaplastic childhood oligodendroglioma synonym: "Undifferentiated pediatric Oligodendroglioma" EXACT [] is_obsolete: true [Term] id: DOID:7157 name: obsolete metastatic squamous neck cancer with occult primary synonym: "squamous cell carcinoma metastatic to the neck with Occult primary" EXACT [] is_obsolete: true [Term] id: DOID:7158 name: obsolete recurrent metastatic squamous cell cancer to the neck with occult primary synonym: "relapsed metastatic Epidermoid carcinoma to the neck with Occult primary" EXACT [] is_obsolete: true [Term] id: DOID:716 name: obsolete Human T-lymphotropic virus 2 infectious disease def: "A viral infectious disease that affects CD8 lymphocytes, has_material_basis_in Human T-lymphotropic virus 2, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-2 develop neurologic diseases resembling tropical spastic paraparesis." [url:http\://onlinelibrary.wiley.com/doi/10.1002/ana.20126/pdf] synonym: "HTLV-II infectious disease" EXACT [] is_obsolete: true [Term] id: DOID:7160 name: rectal leiomyoma def: "A rectal benign neoplasm that has_material_basis_in smooth muscle tissue." [url:https\://pubmed.ncbi.nlm.nih.gov/29657702] subset: NCIthesaurus synonym: "leiomyoma of rectum" EXACT [] synonym: "rectum leiomyoma" EXACT [] xref: NCI:C5552 xref: UMLS_CUI:C1335682 is_a: DOID:127 ! leiomyoma is_a: DOID:1984 ! rectal benign neoplasm [Term] id: DOID:7162 name: obsolete recurrent larynx cancer synonym: "relapsed carcinoma of the Larynx" EXACT [] is_obsolete: true [Term] id: DOID:7164 name: obsolete mediastinum mature teratoma synonym: "Mature teratoma of mediastinum" EXACT [] is_obsolete: true [Term] id: DOID:7165 name: subacute thyroiditis subset: NCIthesaurus synonym: "De Quervain's thyroiditis" EXACT [] synonym: "Giant-cell thyroiditis" EXACT [] synonym: "Granulomatous thyroiditis" EXACT [] synonym: "Subacute Granulomatous Thyroiditis" EXACT [] xref: ICD10CM:E06.1 xref: ICD9CM:245.1 xref: MESH:D013968 xref: NCI:C35071 xref: SNOMEDCT_US_2023_03_01:154666006 xref: UMLS_CUI:C0040149 is_a: DOID:7166 ! thyroiditis [Term] id: DOID:7166 name: thyroiditis comment: Updating to more specific UMLS_CUI from C0029495 to C0040147. subset: NCIthesaurus xref: ICD10CM:E06 xref: ICD9CM:245 xref: MESH:D013966 xref: NCI:C26894 xref: SNOMEDCT_US_2023_03_01:154664009 xref: UMLS_CUI:C0040147 is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:7168 name: lung occult adenocarcinoma subset: NCIthesaurus synonym: "occult adenocarcinoma of lung" RELATED [] synonym: "Occult adenocarcinoma of the lung" EXACT [] xref: NCI:C6699 xref: UMLS_CUI:C1335096 is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:7169 name: lung occult large cell carcinoma subset: NCIthesaurus synonym: "Occult large cell carcinoma of the lung" EXACT [] xref: NCI:C6685 xref: UMLS_CUI:C1335095 is_a: DOID:4556 ! lung large cell carcinoma [Term] id: DOID:7170 name: obsolete recurrent non-cutaneous melanoma is_obsolete: true [Term] id: DOID:7171 name: obsolete recurrent cutaneous melanoma synonym: "recurrent malignant melanoma" EXACT [] synonym: "recurrent melanoma of skin" EXACT [] is_obsolete: true [Term] id: DOID:7173 name: cloacogenic carcinoma comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Cloacogenic anal carcinoma" EXACT [] xref: ICDO:8124/3 xref: NCI:C8255 xref: SNOMEDCT_US_2023_03_01:84570003 xref: UMLS_CUI:C0334273 is_a: DOID:5525 ! anal squamous cell carcinoma [Term] id: DOID:7174 name: anus basaloid carcinoma subset: NCIthesaurus synonym: "anal Basaloid carcinoma" EXACT [] synonym: "basaloid carcinoma of the anus" RELATED [] xref: NCI:C8256 xref: UMLS_CUI:C0280470 is_a: DOID:5525 ! anal squamous cell carcinoma [Term] id: DOID:7175 name: anal Buschke-Lowenstein tumor subset: NCIthesaurus synonym: "anal Giant (malignant) Condyloma" EXACT [] xref: NCI:C7470 xref: UMLS_CUI:C1332278 is_a: DOID:5525 ! anal squamous cell carcinoma [Term] id: DOID:7177 name: anal canal squamous cell carcinoma def: "An anal canal cancer that derives_from epithelial squamous cells." [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] subset: NCIthesaurus xref: NCI:C7469 xref: UMLS_CUI:C1332262 is_a: DOID:0050688 ! anal canal cancer is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:7179 name: mixed eosinophil-basophil adenoma subset: NCIthesaurus synonym: "mixed acidophil-basophil adenoma" EXACT [] xref: NCI:C4148 xref: SNOMEDCT_US_2023_03_01:48619006 xref: UMLS_CUI:C0334312 is_a: DOID:3829 ! pituitary adenoma [Term] id: DOID:718 name: autoimmune hemolytic anemia def: "A hemolytic anemia that is characterized by deficient red blood cells caused by auto-antibodies." [url:http\://en.wikipedia.org/wiki/Autoimmune_hemolytic_anemia] {comment="sn:IEDB"} comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Autoimmune haemolytic anaemia" EXACT [] synonym: "autoimmune hemolytic anaemia" EXACT [] xref: GARD:5870 xref: ICD9CM:283.0 xref: MESH:D000744 xref: MIM:205700 xref: NCI:C34378 xref: SNOMEDCT_US_2023_03_01:25121006 xref: UMLS_CUI:C0002880 is_a: DOID:0060050 ! autoimmune disease of blood is_a: DOID:583 ! hemolytic anemia [Term] id: DOID:7181 name: benign dermal neurilemmoma subset: NCIthesaurus synonym: "benign Schwannoma of the skin" EXACT [] xref: NCI:C5569 xref: UMLS_CUI:C1332490 is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:7186 name: obsolete metastatic childhood sarcoma of soft tissue synonym: "metastatic pediatric sarcoma of the soft tissue" EXACT [] is_obsolete: true [Term] id: DOID:7187 name: subacute lymphocytic thyroiditis subset: NCIthesaurus xref: NCI:C35829 xref: SNOMEDCT_US_2023_03_01:361126006 xref: UMLS_CUI:C1306804 is_a: DOID:7166 ! thyroiditis [Term] id: DOID:7188 name: autoimmune thyroiditis alt_id: DOID:0050435 def: "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues." [url:https\://en.wikipedia.org/wiki/Autoimmune_thyroiditis] {comment="sn:IEDB"} comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Chronic Lymphocytic Thyroiditis" EXACT [] synonym: "Hashimoto thyroiditis" EXACT [] synonym: "Hashimoto's Disease" EXACT [] synonym: "Hashimoto's syndrome" EXACT [] synonym: "Hashimoto's thyroiditis" EXACT [] synonym: "Lymphocytic Thyroiditis" EXACT [] xref: ICD10CM:E06.3 xref: MESH:D013967 xref: NCI:C38766 xref: SNOMEDCT_US_2023_03_01:190297000 xref: UMLS_CUI:C0920350 is_a: DOID:0060005 ! autoimmune disease of endocrine system [Term] id: DOID:7191 name: ovarian endometrioid cystadenoma def: "An ovarian cystadenoma that is characterized by the presence of endometrial tissue." [url:https\://pubmed.ncbi.nlm.nih.gov/30725635/] subset: NCIthesaurus xref: NCI:C40075 xref: UMLS_CUI:C1518713 is_a: DOID:3269 ! ovarian cystadenoma [Term] id: DOID:7192 name: hereditary conventional renal cell carcinoma subset: NCIthesaurus xref: NCI:C36260 xref: SNOMEDCT_US_2023_03_01:764961009 xref: UMLS_CUI:C1333985 is_a: DOID:4455 ! hereditary renal cell carcinoma [Term] id: DOID:7198 name: maxillary sinus adenoid cystic carcinoma subset: NCIthesaurus synonym: "adenoid cystic carcinoma of maxillary sinus" RELATED [] synonym: "adenoid cystic carcinoma of the maxillary sinus" EXACT [] xref: NCI:C6239 xref: UMLS_CUI:C1334643 is_a: DOID:1357 ! maxillary sinus cancer [Term] id: DOID:720 name: normocytic anemia def: "An anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL." [url:https\://www.ncbi.nlm.nih.gov/books/NBK565880] subset: NCIthesaurus synonym: "ANEMIA NORMOCYTIC" EXACT [] synonym: "Normocytic normochromic anemia" EXACT [] xref: NCI:C35142 xref: SNOMEDCT_US_2023_03_01:300980002 xref: UMLS_CUI:C0085577 is_a: DOID:2355 ! anemia [Term] id: DOID:7202 name: intermediate malignant teratoma def: "A malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues." [url:http\://codes.iarc.fr/code/3630] subset: NCIthesaurus synonym: "Intermediate Immature teratoma" EXACT [] synonym: "malignant teratoma, intermediate" EXACT [] xref: NCI:C4288 xref: SNOMEDCT_US_2023_03_01:21912003 xref: UMLS_CUI:C0334522 is_a: DOID:5563 ! malignant teratoma [Term] id: DOID:7206 name: melanomatosis subset: NCIthesaurus xref: NCI:C9499 xref: UMLS_CUI:C1334691 is_a: DOID:1909 ! melanoma [Term] id: DOID:7207 name: lung combined large cell neuroendocrine carcinoma subset: NCIthesaurus synonym: "combined large cell neuroendocrine carcinoma of lung" RELATED [] synonym: "pulmonary Combined large cell neuroendocrine carcinoma" EXACT [] xref: NCI:C7267 xref: UMLS_CUI:C1333122 is_a: DOID:6658 ! pulmonary large cell neuroendocrine carcinoma [Term] id: DOID:7210 name: psammomatous meningioma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:9533/0 xref: MESH:D008579 xref: NCI:C4331 xref: SNOMEDCT_US_2023_03_01:38431002 xref: UMLS_CUI:C0334607 is_a: DOID:3565 ! meningioma [Term] id: DOID:7211 name: fibrous meningioma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Fibroblastic meningioma" EXACT [] xref: ICDO:9532/0 xref: MESH:D008579 xref: NCI:C4330 xref: SNOMEDCT_US_2023_03_01:511008 xref: UMLS_CUI:C0334606 is_a: DOID:3565 ! meningioma [Term] id: DOID:7212 name: meningothelial meningioma subset: DO_cancer_slim subset: NCIthesaurus synonym: "Meningotheliomatous meningioma" EXACT [] xref: ICDO:9531/0 xref: MESH:D008579 xref: NCI:C4329 xref: SNOMEDCT_US_2023_03_01:68944005 xref: UMLS_CUI:C0334605 is_a: DOID:3565 ! meningioma [Term] id: DOID:7213 name: transitional meningioma subset: DO_cancer_slim subset: NCIthesaurus synonym: "transitional (mixed) meningioma" EXACT [] xref: ICDO:9537/0 xref: MESH:D008579 xref: NCI:C4333 xref: SNOMEDCT_US_2023_03_01:64967004 xref: UMLS_CUI:C0334611 is_a: DOID:3565 ! meningioma [Term] id: DOID:7214 name: noninvasive malignant thymoma subset: NCIthesaurus synonym: "Thymoma malignant Noninvasive" EXACT [] xref: NCI:C9080 xref: UMLS_CUI:C0278847 is_a: DOID:3275 ! thymoma [Term] id: DOID:7215 name: obsolete relapsed childhood ependymoma synonym: "relapsed pediatric Ependymoma" EXACT [] is_obsolete: true [Term] id: DOID:722 name: obsolete spontaneous abortion synonym: "miscarriage" EXACT [] is_obsolete: true [Term] id: DOID:7221 name: gallbladder papillary carcinoma def: "A papillary carcioma that is located_in the gallbladder." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15974814] subset: NCIthesaurus synonym: "Papillary carcinoma of the gallbladder" EXACT [] xref: NCI:C5743 xref: UMLS_CUI:C5399921 is_a: DOID:305 ! carcinoma is_a: DOID:3121 ! gallbladder cancer [Term] id: DOID:7222 name: gallbladder pleomorphic giant cell adenocarcinoma synonym: "Pleomorphic Giant cell adenocarcinoma of the gallbladder" EXACT [] is_a: DOID:3500 ! gallbladder adenocarcinoma [Term] id: DOID:7223 name: breast giant fibroadenoma def: "A breast fibroadenoma that is larger than 5 cm." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596698/] subset: NCIthesaurus synonym: "Giant Fibroadenoma" EXACT [] synonym: "Giant fibroadenoma of breast" EXACT [] xref: NCI:C4273 xref: SNOMEDCT_US_2023_03_01:254846003 xref: UMLS_CUI:C0346157 is_a: DOID:1618 ! breast fibroadenoma [Term] id: DOID:7224 name: spinal meninges cancer synonym: "malignant neoplasm of spinal meninges" EXACT [] xref: ICD10CM:C70.1 xref: ICD9CM:192.3 xref: SNOMEDCT_US_2023_03_01:94069006 xref: UMLS_CUI:C0153647 is_a: DOID:5612 ! spinal cancer [Term] id: DOID:7230 name: postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma subset: NCIthesaurus synonym: "CLL/SLL with IGVH SHM" EXACT [] xref: NCI:C37201 xref: UMLS_CUI:C1333037 is_a: DOID:6354 ! chronic lymphocytic leukemia/small lymphocytic lymphoma [Term] id: DOID:7231 name: childhood CNS embryonal cell carcinoma def: "A central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells." [url:https\://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq, url:https\://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "Embryonal carcinoma of paediatric CNS" EXACT [] synonym: "Embryonal carcinoma of pediatric CNS" EXACT [] synonym: "paediatric CNS embryonal cell carcinoma" EXACT [] synonym: "pediatric CNS embryonal cell carcinoma" EXACT [] xref: NCI:C6208 xref: UMLS_CUI:C1377605 is_a: DOID:1319 ! brain cancer is_a: DOID:6052 ! central nervous system childhood germ cell tumor [Term] id: DOID:7232 name: central nervous system embryonal carcinoma subset: NCIthesaurus synonym: "Embryonal carcinoma of CNS" EXACT [] synonym: "embryonal carcinoma of the central nervous system" RELATED [] xref: NCI:C7010 xref: UMLS_CUI:C1333377 is_a: DOID:3308 ! embryonal carcinoma is_a: DOID:4439 ! central nervous system germ cell tumor [Term] id: DOID:7233 name: adult central nervous system embryonal carcinoma def: "A central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells." [url:https\://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq, url:https\://www.ncbi.nlm.nih.gov/pubmed/17997317] subset: NCIthesaurus synonym: "Embryonal carcinoma of the adult central nervous system" EXACT [] xref: NCI:C5790 xref: UMLS_CUI:C1370503 is_a: DOID:5349 ! central nervous system adult germ cell tumor [Term] id: DOID:7234 name: mucinous cystadenocarcinoma of pancreas def: "A pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas." [url:https\://www.ncbi.nlm.nih.gov/books/NBK448105/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959310/] subset: NCIthesaurus synonym: "pancreatic colloid cystadenocarcinoma" EXACT [] synonym: "Pancreatic Mucinous Cystadenocarcinoma" EXACT [] xref: NCI:C5713 xref: SNOMEDCT_US_2023_03_01:785879009 xref: UMLS_CUI:C2063873 is_a: DOID:4073 ! pancreatic cystadenocarcinoma [Term] id: DOID:7235 name: pancreatic mucinous cystadenoma subset: NCIthesaurus synonym: "pancreatic mucinous cystic neoplasm" EXACT [] xref: NCI:C41247 xref: UMLS_CUI:C1518872 is_a: DOID:3918 ! pancreatic cystadenoma [Term] id: DOID:7236 name: pancreatic invasive mucinous cystadenocarcinoma subset: NCIthesaurus xref: NCI:C41246 xref: UMLS_CUI:C1518870 is_a: DOID:7234 ! mucinous cystadenocarcinoma of pancreas [Term] id: DOID:7237 name: pancreatic non-invasive mucinous cystadenocarcinoma subset: NCIthesaurus xref: NCI:C41245 xref: SNOMEDCT_US_2023_03_01:128900005 xref: UMLS_CUI:C1266078 is_a: DOID:7234 ! mucinous cystadenocarcinoma of pancreas [Term] id: DOID:7238 name: obsolete AIDS-related gastric Kaposi's sarcoma def: "An AIDS-related Kaposi's sarcoma and gastric Kaposi's sarcoma that is located_in the stomach." [url:http\://jco.ascopubs.org/cgi/content/short/28/16/e250] synonym: "AIDS-Related Kaposi's sarcoma of stomach" EXACT [] is_obsolete: true [Term] id: DOID:724 name: female stress incontinence subset: NCIthesaurus synonym: "female urinary stress incontinence" EXACT [] synonym: "Stress incontinence - female" EXACT [] xref: ICD9CM:625.6 xref: NCI:C35042 xref: SNOMEDCT_US_2023_03_01:60241006 xref: UMLS_CUI:C0038437 is_a: DOID:365 ! bladder disease [Term] id: DOID:7241 name: uterine corpus apoplectic leiomyoma def: "An uterine corpus cellular leiomyoma that is characterized by stellate zones of recent hemorrhage within nodules of hypercellular smooth muscle." [url:http\://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html] subset: NCIthesaurus xref: NCI:C40165 xref: UMLS_CUI:C1519852 is_a: DOID:7242 ! uterine corpus cellular leiomyoma [Term] id: DOID:7242 name: uterine corpus cellular leiomyoma def: "An uterine benign neoplasm that derives_from smooth muscle cells and that is located_in the uterine corpus." [url:http\://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/25490906] subset: NCIthesaurus xref: NCI:C40163 xref: UMLS_CUI:C1519845 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:127 ! leiomyoma [Term] id: DOID:7244 name: bladder urachal urothelial carcinoma subset: NCIthesaurus xref: NCI:C39844 xref: UMLS_CUI:C1511207 is_a: DOID:5958 ! bladder urachal carcinoma [Term] id: DOID:7245 name: obsolete metastatic endometrial adenocarcinoma is_obsolete: true [Term] id: DOID:7246 name: lymphoepithelioma-like acinar prostate adenocarcinoma subset: NCIthesaurus synonym: "lymphoepithelioma-like variant acinar prostate adenocarcinoma" EXACT [] xref: NCI:C39885 xref: UMLS_CUI:C1515864 is_a: DOID:2526 ! prostate adenocarcinoma [Term] id: DOID:7252 name: obsolete cerebral meninges malignant neoplasm synonym: "malignant neoplasm of cerebral meninges (disorder)" EXACT [] synonym: "malignant neoplasm of cerebral meninges NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:7256 name: obsolete anaplastic urethra carcinoma synonym: "Undifferentiated carcinoma of the urethra" EXACT [] is_obsolete: true [Term] id: DOID:7262 name: obsolete gallbladder anaplastic carcinoma synonym: "Undifferentiated gallbladder carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:7263 name: selective IgD deficiency disease def: "A selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27144] subset: NCIthesaurus synonym: "Selective IgD Immunodeficiency" EXACT [] synonym: "Selective immunoglobulin D deficiency" EXACT [] xref: NCI:C27144 xref: SNOMEDCT_US_2023_03_01:234541006 xref: UMLS_CUI:C0398695 is_a: DOID:6025 ! selective immunoglobulin deficiency disease [Term] id: DOID:7266 name: familiar fallopian tube carcinoma subset: NCIthesaurus xref: NCI:C40455 xref: UMLS_CUI:C1512418 is_a: DOID:1963 ! fallopian tube carcinoma [Term] id: DOID:7267 name: lung clear cell carcinoma xref: SNOMEDCT_US_2023_03_01:254630009 xref: UMLS_CUI:C0345959 is_a: DOID:3905 ! lung carcinoma [Term] id: DOID:7268 name: obsolete solid carcinoma of lung with mucus formation synonym: "pulmonary solid adenocarcinoma with Mucin" EXACT [] is_obsolete: true [Term] id: DOID:7269 name: cribriform variant testicular seminoma subset: NCIthesaurus xref: NCI:C40957 xref: UMLS_CUI:C1515292 is_a: DOID:5842 ! testis seminoma [Term] id: DOID:727 name: premenstrual tension xref: ICD10CM:N94.3 xref: ICD9CM:625.4 xref: MESH:D011293 xref: SNOMEDCT_US_2023_03_01:123076003 xref: UMLS_CUI:C0376356 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:7273 name: obsolete adrenal gland tuberculosis subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:728 name: nodular episcleritis def: "A scleral disease that is characterized by painful inflammation with surface nodule formation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular episcleritis is typically self-limited and may be caused by vascular congestion within the superficial episcleral plexus." [url:https\://eyewiki.aao.org/Episcleritis] xref: ICD10CM:H15.12 xref: ICD9CM:379.02 xref: SNOMEDCT_US_2023_03_01:70558001 xref: UMLS_CUI:C0155352 is_a: DOID:11343 ! scleral disease [Term] id: DOID:7280 name: congenital epulis subset: NCIthesaurus synonym: "Congenital Epulides" EXACT [] xref: MESH:D005887 xref: NCI:C4675 xref: SNOMEDCT_US_2023_03_01:25511009 xref: UMLS_CUI:C0376319 is_a: DOID:0080015 ! physical disorder is_a: DOID:5337 ! epulis [Term] id: DOID:7281 name: uterine corpus adenocarcinofibroma def: "A uterine body mixed cancer that derives_from epithelial cells which originate in glandular tissue and connective tissue." [url:http\://www.cancernetwork.com/cancer-management/uterine-corpus-tumors] is_a: DOID:4114 ! uterine body mixed cancer [Term] id: DOID:7284 name: Skene gland carcinoma alt_id: DOID:6722 subset: NCIthesaurus synonym: "carcinoma of the paraurethral gland" EXACT [] synonym: "paraurethral gland carcinoma" EXACT [] xref: NCI:C39863 xref: NCI:C7371 xref: UMLS_CUI:C1335352 xref: UMLS_CUI:C1527427 is_a: DOID:14059 ! paraurethral gland cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:7289 name: endometrial endometrioid adenocarcinoma, secretory variant def: "An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium." [url:http\://www.pathologyoutlines.com/topic/uterussecretory.html] subset: NCIthesaurus synonym: "secretory uterine corpus endometrioid adenocarcinoma" EXACT [] xref: NCI:C27839 xref: SNOMEDCT_US_2023_03_01:128680006 xref: UMLS_CUI:C1266057 is_a: DOID:2870 ! endometrial adenocarcinoma [Term] id: DOID:7293 name: mucin-rich endometrial endometrioid adenocarcinoma def: "An endometrial adenocarcinoma that is characterized by the presence of abundant mucin." [url:https\://pubmed.ncbi.nlm.nih.gov/28421274/] subset: NCIthesaurus xref: NCI:C8717 xref: UMLS_CUI:C1513711 is_a: DOID:2870 ! endometrial adenocarcinoma [Term] id: DOID:7295 name: obsolete recurrent childhood soft tissue sarcoma synonym: "relapsed pediatric sarcoma of the soft tissue" EXACT [] is_obsolete: true [Term] id: DOID:7296 name: obsolete nonmetastatic childhood soft tissue sarcoma synonym: "Non-metastatic pediatric soft tissue sarcoma" EXACT [] is_obsolete: true [Term] id: DOID:7297 name: childhood extraosseous osteosarcoma def: "An extraosseous osteosarcoma that arises from the soft tissue and occurs during childhood." [url:https\://pubmed.ncbi.nlm.nih.gov/18214458/] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "Childhood Extraskeletal Osteosarcoma" EXACT [] synonym: "pediatric extraskeletal Osteosarcoma" EXACT [] xref: NCI:C27376 xref: UMLS_CUI:C1332968 is_a: DOID:3357 ! extraosseous osteosarcoma [Term] id: DOID:730 name: urethral benign neoplasm subset: NCIthesaurus synonym: "neoplasm of urethra" EXACT [] synonym: "neoplasm. urethra" EXACT [] xref: MESH:D014523 xref: NCI:C3428 xref: SNOMEDCT_US_2023_03_01:126883004 xref: UMLS_CUI:C0041971 is_a: DOID:731 ! urinary system benign neoplasm is_a: DOID:732 ! urethral disease [Term] id: DOID:7301 name: obsolete inferior vena cava leiomyosarcoma synonym: "leiomyosarcoma of the Inferior Vena Cava" EXACT [] is_obsolete: true [Term] id: DOID:7302 name: endodermal sinus pattern testicular yolk sac tumor subset: NCIthesaurus xref: NCI:C39927 xref: UMLS_CUI:C1515303 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:7304 name: obsolete breast carcinoma metastatic to the brain is_obsolete: true [Term] id: DOID:7305 name: astroblastoma def: "A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly." [url:https\://www.futuremedicine.com/doi/full/10.2217/cns-2018-0012, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910607/] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10635 xref: ICDO:9430/3 xref: MESH:D018302 xref: NCI:C4324 xref: SNOMEDCT_US_2023_03_01:48952003 xref: UMLS_CUI:C0334587 is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:7306 name: obsolete anaplastic oligoastrocytoma synonym: "anaplastic oligoastrocytoma" EXACT [] synonym: "anaplastic oligoastrocytoma (morphologic abnormality)" EXACT [] synonym: "WHO grade III mixed glioma" EXACT [] is_obsolete: true [Term] id: DOID:731 name: urinary system benign neoplasm def: "An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra." [url:http\://en.wikipedia.org/wiki/Urinary_system] subset: NCIthesaurus synonym: "neoplasm of urinary system" EXACT [] synonym: "tumor of the urinary system" EXACT [] synonym: "tumor of urinary tract" EXACT [] synonym: "urinary tract neoplasm" EXACT [] xref: MESH:D014571 xref: NCI:C3431 xref: SNOMEDCT_US_2023_03_01:254913005 xref: UMLS_CUI:C0042076 is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:18 ! urinary system disease [Term] id: DOID:7312 name: breast adenomyoepithelial adenosis subset: NCIthesaurus xref: NCI:C40391 xref: UMLS_CUI:C1511283 is_a: DOID:5998 ! microglandular adenosis [Term] id: DOID:7315 name: Jewett-Marshall bladder cancer subset: NCIthesaurus synonym: "Jewett-Marshall stage D1 bladder cancer" RELATED [] synonym: "Jewett-Marshall stage D2 bladder cancer" RELATED [] synonym: "stage IVB urinary bladder carcinoma" EXACT [] xref: NCI:C9368 xref: UMLS_CUI:C1336362 is_a: DOID:4007 ! bladder carcinoma [Term] id: DOID:7316 name: obsolete inherited neuropathy synonym: "hereditary neuropathy" EXACT [] is_obsolete: true [Term] id: DOID:7319 name: axonal neuropathy subset: NCIthesaurus xref: NCI:C27301 xref: SNOMEDCT_US_2023_03_01:60703000 xref: UMLS_CUI:C0270921 is_a: DOID:870 ! neuropathy [Term] id: DOID:732 name: urethral disease def: "A urinary system disease that is located_in the urethra." [url:http\://www.nlm.nih.gov/medlineplus/urethraldisorders.html] subset: NCIthesaurus synonym: "urethra disease" EXACT [] xref: ICD10CM:N36.9 xref: MESH:D014522 xref: NCI:C26903 xref: SNOMEDCT_US_2023_03_01:4985009 xref: UMLS_CUI:C0041969 is_a: DOID:18 ! urinary system disease [Term] id: DOID:7320 name: ovarian serous cystadenofibroma def: "An ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces." [url:https\://en.wikipedia.org/wiki/Ovarian_serous_cystadenoma] subset: NCIthesaurus xref: NCI:C40032 xref: UMLS_CUI:C0877572 is_a: DOID:5474 ! ovarian serous adenofibroma [Term] id: DOID:7323 name: obsolete primary cerebral lymphoma in immunocompetent host is_obsolete: true [Term] id: DOID:7324 name: obsolete hepatitis C virus related hepatocellular carcinoma is_obsolete: true [Term] id: DOID:7325 name: obsolete hepatitis B virus related hepatocellular carcinoma is_obsolete: true [Term] id: DOID:7326 name: cranial pseudosarcomatous fasciitis subset: NCIthesaurus xref: NCI:C27248 xref: UMLS_CUI:C1333162 is_a: DOID:7327 ! pseudosarcomatous fibromatosis [Term] id: DOID:7327 name: pseudosarcomatous fibromatosis subset: NCIthesaurus synonym: "Fasciitis - nodular" EXACT [] synonym: "nodular fasciitis" EXACT [] synonym: "Pseudosarcomatous Fasciitis" EXACT [] xref: ICD10CM:M72.4 xref: NCI:C3827 xref: SNOMEDCT_US_2023_03_01:268106003 xref: UMLS_CUI:C0410005 is_a: DOID:9598 ! fasciitis [Term] id: DOID:7328 name: iris spindle cell melanoma def: "A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5] subset: NCIthesaurus xref: NCI:C6098 xref: UMLS_CUI:C1334287 is_a: DOID:1909 ! melanoma is_a: DOID:6994 ! malignant iris melanoma [Term] id: DOID:7332 name: esophageal tuberculosis def: "A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss." [url:http\://www.springerlink.com/content/53763553187824h3/fulltext.pdf] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease synonym: "tuberculosis of esophagus" EXACT [] xref: ICD9CM:017.8 xref: SNOMEDCT_US_2023_03_01:15284007 xref: UMLS_CUI:C0152902 is_a: DOID:404 ! gastrointestinal tuberculosis is_a: DOID:6050 ! esophageal disease [Term] id: DOID:7333 name: nephrogenic adenoma of urinary bladder subset: NCIthesaurus synonym: "Nephrogenic adenoma of the urinary bladder" EXACT [] xref: NCI:C7415 xref: UMLS_CUI:C1336892 is_a: DOID:0050623 ! bladder benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:7334 name: nephrogenic adenoma subset: NCIthesaurus xref: NCI:C97097 xref: SNOMEDCT_US_2023_03_01:78236000 xref: UMLS_CUI:C0334039 is_a: DOID:3116 ! kidney benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:7335 name: obsolete extraocular extension of melanoma is_obsolete: true [Term] id: DOID:734 name: urethra cancer alt_id: DOID:737 def: "An urinary tract cancer that derives_from the tissues of the urethra." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient] subset: DO_rare_slim subset: NCIthesaurus synonym: "cancer of urethra" RELATED [] synonym: "malignant tumour of urethra" EXACT [] synonym: "malignant urethral neoplasm" EXACT [] synonym: "urethral Ca" EXACT [] xref: GARD:9390 xref: ICD10CM:C68.0 xref: ICD9CM:189.3 xref: MESH:D014523 xref: NCI:C7507 xref: NCI:C9106 xref: SNOMEDCT_US_2023_03_01:363459007 xref: SNOMEDCT_US_2023_03_01:94123008 xref: UMLS_CUI:C0153620 xref: UMLS_CUI:C0700101 is_a: DOID:3996 ! urinary system cancer is_a: DOID:732 ! urethral disease [Term] id: DOID:7340 name: childhood ovarian dysgerminoma def: "A childhood ovarian germ cell tumor that derives_from cells that give rise to egg cells." [url:http\://en.wikipedia.org/wiki/Dysgerminoma, url:http\://www.cancer.gov/dictionary?CdrID=672835] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric ovarian dysgerminoma" EXACT [] xref: NCI:C6550 xref: UMLS_CUI:C1332988 is_a: DOID:6084 ! childhood ovarian germ cell tumor [Term] id: DOID:7344 name: obsolete anaplastic brainstem astrocytoma is_obsolete: true [Term] id: DOID:7345 name: obsolete anaplastic glioma of brain stem synonym: "Undifferentiated glioma of Brainstem" EXACT [] is_obsolete: true [Term] id: DOID:7347 name: ovarian stromal hyperthecosis def: "An ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowly progressive acne, hirsutism, virilization." [url:https\://en.wikipedia.org/wiki/Hyperthecosis] subset: NCIthesaurus xref: NCI:C40446 xref: UMLS_CUI:C1518743 is_a: DOID:1100 ! ovarian disease [Term] id: DOID:735 name: obsolete metastatic neoplasm of urethra synonym: "urethra metastatic malignant neoplasm" EXACT [] is_obsolete: true [Term] id: DOID:7350 name: thymic dysplasia subset: NCIthesaurus xref: NCI:C27802 xref: UMLS_CUI:C1331541 is_a: DOID:533 ! thymus gland disease [Term] id: DOID:7351 name: obsolete localized Askin's tumor is_obsolete: true [Term] id: DOID:7352 name: obsolete diencephalic anaplastic astrocytoma synonym: "Undifferentiated astrocytoma of Diencephalon" EXACT [] is_obsolete: true [Term] id: DOID:7356 name: rectum sarcomatoid carcinoma subset: NCIthesaurus synonym: "sarcomatoid carcinoma of rectum" EXACT [] xref: NCI:C5556 xref: UMLS_CUI:C1335689 is_a: DOID:1993 ! rectum cancer [Term] id: DOID:7357 name: obsolete rectal anaplastic carcinoma synonym: "Undifferentiated carcinoma of rectum" EXACT [] is_obsolete: true [Term] id: DOID:7358 name: obsolete recurrent rectal cancer synonym: "recurrent Rectal carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:736 name: male urethral cancer subset: NCIthesaurus xref: NCI:C39867 xref: UMLS_CUI:C1518164 is_a: DOID:734 ! urethra cancer [Term] id: DOID:7360 name: solid pattern testicular yolk sac tumor subset: NCIthesaurus xref: NCI:C39925 xref: UMLS_CUI:C1515312 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:7362 name: obsolete teratoma of CNS with malignant transformation synonym: "teratoma of the central nervous system with malignant Transformation" EXACT [] is_obsolete: true [Term] id: DOID:7363 name: vulvar keratinizing squamous cell carcinoma def: "A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16032717] subset: NCIthesaurus xref: NCI:C40284 is_a: DOID:2101 ! vulva squamous cell carcinoma [Term] id: DOID:7364 name: obsolete organic anxiety disorder is_obsolete: true [Term] id: DOID:7365 name: Kimura disease subset: DO_rare_slim subset: NCIthesaurus synonym: "Kimura's disease" EXACT [] xref: GARD:6835 xref: MESH:D000082242 xref: NCI:C26867 xref: SNOMEDCT_US_2023_03_01:399894006 xref: UMLS_CUI:C0033838 is_a: DOID:37 ! skin disease [Term] id: DOID:7371 name: superficial urinary bladder cancer def: "A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area." [url:http\://www.malecare.com/new_page_91.htm] subset: NCIthesaurus synonym: "Superficial urinary bladder carcinoma" EXACT [] xref: MESH:D000093284 xref: NCI:C27474 xref: SNOMEDCT_US_2023_03_01:425231005 xref: UMLS_CUI:C1336527 is_a: DOID:4007 ! bladder carcinoma [Term] id: DOID:7378 name: pituitary hypoplasia subset: NCIthesaurus xref: NCI:C27343 xref: UMLS_CUI:C0948740 is_a: DOID:53 ! pituitary gland disease [Term] id: DOID:7379 name: adrenal medulla carcinoma def: "An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." [url:http\://en.wikipedia.org/wiki/Carcinoma] subset: NCIthesaurus xref: NCI:C9276 xref: UMLS_CUI:C1334717 is_a: DOID:305 ! carcinoma is_a: DOID:5719 ! adrenal medulla cancer [Term] id: DOID:738 name: female urethral cancer subset: NCIthesaurus xref: NCI:C39866 xref: UMLS_CUI:C1517154 is_a: DOID:734 ! urethra cancer [Term] id: DOID:7380 name: squamous cell papilloma of skin subset: NCIthesaurus synonym: "Parakeratotic skin papilloma" EXACT [] xref: NCI:C4462 xref: SNOMEDCT_US_2023_03_01:254661000 xref: UMLS_CUI:C0345983 is_a: DOID:3178 ! skin papilloma [Term] id: DOID:7381 name: lymphohistiocytoid mesothelioma subset: NCIthesaurus xref: NCI:C27779 xref: UMLS_CUI:C1334464 is_a: DOID:7474 ! malignant pleural mesothelioma [Term] id: DOID:7384 name: obsolete localized resectable adult primary hepatoma is_obsolete: true [Term] id: DOID:7385 name: obsolete localized resectable adult primary liver cancer synonym: "localized Resectable adult Liver carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:7388 name: pulmonary vein leiomyosarcoma def: "A leiomyosarcoma that is located_in the pulmonary vein." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11107057] subset: NCIthesaurus synonym: "leiomyosarcoma of the pulmonary Vein" EXACT [] xref: NCI:C5374 xref: UMLS_CUI:C1335575 is_a: DOID:175 ! vascular cancer is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:866 ! vein disease [Term] id: DOID:7389 name: pulmonary artery leiomyosarcoma def: "A leiomyosarcoma that is located_in the pulmonary artery." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22214627] subset: NCIthesaurus synonym: "leiomyosarcoma of the pulmonary artery" EXACT [] xref: NCI:C5373 xref: UMLS_CUI:C1335572 is_a: DOID:0050828 ! artery disease is_a: DOID:175 ! vascular cancer is_a: DOID:1967 ! leiomyosarcoma [Term] id: DOID:739 name: obsolete metastasis to the urethra synonym: "metastatic neoplasm to the urethra" EXACT [] synonym: "secondary malignant neoplasm of urethra (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:7390 name: superior vena cava leiomyosarcoma def: "A leiomyosarcoma that is located_in the superior vena cava." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2733032/] subset: NCIthesaurus synonym: "leiomyosarcoma of the Superior Vena Cava" EXACT [] xref: NCI:C6745 xref: UMLS_CUI:C1336531 is_a: DOID:175 ! vascular cancer is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:866 ! vein disease [Term] id: DOID:7391 name: obsolete superior vena cava malignant neoplasm synonym: "malignant tumor of Superior Vena Cava" EXACT [] is_obsolete: true [Term] id: DOID:7398 name: cerebral primitive neuroectodermal tumor subset: NCIthesaurus synonym: "PNET of Cerebrum" EXACT [] xref: MESH:D018242 xref: NCI:C4970 xref: UMLS_CUI:C0751675 is_a: DOID:368 ! cerebrum cancer [Term] id: DOID:74 name: hematopoietic system disease def: "A disease of anatomical entity that has_material_basis_in hematopoietic cells." [url:http\://en.wikipedia.org/wiki/Hematopathology, url:https\://www.ncbi.nlm.nih.gov/books/NBK1741/] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim subset: NCIthesaurus synonym: "Blood disease" EXACT [] synonym: "blood disorder" EXACT [] synonym: "Blood dyscrasia" EXACT [] synonym: "disease of haematopoietic system" EXACT [] synonym: "disease of hematopoietic system" EXACT [] synonym: "DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS" EXACT [] synonym: "haematopoietic system disease" EXACT [] synonym: "Hematological disease" EXACT [] xref: ICD10CM:D75.9 xref: ICD9CM:289.9 xref: MESH:D006402 xref: NCI:C26323 xref: SNOMEDCT_US_2023_03_01:154785002 xref: UMLS_CUI:C0018939 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:7400 name: Nijmegen breakage syndrome def: "A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3277755, url:https\://www.ncbi.nlm.nih.gov/pubmed/9042920] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "ataxia-telangiectasia variant" EXACT [] synonym: "Berlin breakage syndrome" EXACT [] synonym: "immunodeficiency-microcephaly-chromosomal instability syndrome" EXACT [] synonym: "Microcephaly, normal intelligence and immunodeficiency" EXACT [] synonym: "microcephaly-immunodeficiency-lymphoreticuloma syndrome" EXACT [] synonym: "NBS" EXACT OMO:0003012 [] synonym: "Seemanova syndrome II" EXACT [] synonym: "Seemanova syndrome type 2" EXACT [] xref: GARD:3904 xref: MESH:D049932 xref: MIM:251260 xref: NCI:C4692 xref: ORDO:647 xref: SNOMEDCT_US_2023_03_01:234638009 xref: UMLS_CUI:C0398791 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:7401 name: colonic L-cell glucagon-like peptide producing tumor subset: NCIthesaurus xref: NCI:C27447 xref: UMLS_CUI:C3274139 is_a: DOID:219 ! colon cancer [Term] id: DOID:7402 name: L-cell glucagon-like peptide producing tumor subset: NCIthesaurus xref: NCI:C27448 xref: UMLS_CUI:C3274140 is_a: DOID:4148 ! gastrointestinal neuroendocrine benign tumor [Term] id: DOID:7407 name: obsolete metastatic carcinoma to the uterine cervix synonym: "secondary carcinoma to the Cervix Uteri" EXACT [] is_obsolete: true [Term] id: DOID:7408 name: vulvar keratoacanthoma def: "A vulva squamous cell carcinoma that is rapidly growing, self-limited, and characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C40288, url:https\://www.ncbi.nlm.nih.gov/pubmed/24719870] comment: NCI retired concept, vulvar keratoacanthoma-like carcinoma. subset: NCIthesaurus synonym: "vulvar keratoacanthoma-like carcinoma" EXACT [] xref: NCI:C128167 xref: UMLS_CUI:C4288007 is_a: DOID:2101 ! vulva squamous cell carcinoma [Term] id: DOID:7409 name: vulvar non-keratinizing squamous cell carcinoma def: "A vulva squamous cell carcinoma that is composed of polygonal squamous cells growing in sheets or nests that may have intercellular bridges, but keratin pearls are not present." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374790/] subset: NCIthesaurus xref: NCI:C40285 xref: UMLS_CUI:C1520092 is_a: DOID:2101 ! vulva squamous cell carcinoma [Term] id: DOID:7410 name: obsolete vulvar squamous cell carcinoma with tumor giant cells is_obsolete: true [Term] id: DOID:7411 name: ovarian endometrioid cystadenofibroma def: "An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces." [url:https\://www.ncbi.nlm.nih.gov/pubmed/514560] subset: NCIthesaurus xref: NCI:C27288 xref: UMLS_CUI:C1335158 is_a: DOID:5480 ! ovarian endometrioid adenofibroma [Term] id: DOID:7419 name: obsolete metaplastic meningioma synonym: "Metaplastic meningioma" EXACT [] is_obsolete: true [Term] id: DOID:7420 name: obsolete placental infarction synonym: "Placental infarct" EXACT [] synonym: "Placental infarct (disorder)" EXACT [] synonym: "Placental infarction" EXACT [] is_obsolete: true [Term] id: DOID:7423 name: obsolete ovarian mucinous cystic tumor with mural nodules is_obsolete: true [Term] id: DOID:7426 name: cutaneous anthrax def: "An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center." [url:https\://en.wikipedia.org/wiki/Anthrax#Skin] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-positive_bacterial_infectious_disease subset: zoonotic_infectious_disease xref: GARD:8158 xref: ICD10CM:A22.0 xref: ICD9CM:022.0 xref: MESH:C531621 xref: SNOMEDCT_US_2023_03_01:84980006 xref: UMLS_CUI:C0003177 is_a: DOID:37 ! skin disease is_a: DOID:7427 ! anthrax disease [Term] id: DOID:7427 name: anthrax disease def: "A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath." [url:https\://en.wikipedia.org/wiki/Anthrax, url:https\://medlineplus.gov/ency/article/001325.htm, url:https\://www.cdc.gov/anthrax/basics/index.html, url:https\://wwwnc.cdc.gov/travel/yellowbook/2020/travel-related-infectious-diseases/anthrax] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus subset: zoonotic_infectious_disease xref: GARD:8157 xref: ICD10CM:A22 xref: ICD9CM:022 xref: MESH:D000881 xref: NCI:C84565 xref: SNOMEDCT_US_2023_03_01:154295005 xref: UMLS_CUI:C0003175 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:7428 name: pineal region germinoma subset: NCIthesaurus xref: NCI:C8712 xref: UMLS_CUI:C0854912 is_a: DOID:1660 ! malignant pineal area germ cell neoplasm [Term] id: DOID:7429 name: childhood brain germinoma def: "A brain germinoma that is characterized by tumor of the germ cell in childhood that has_material_basis_in abnormally proliferating cells derives_from germ cells, located_in pineal area and located_in suprasellar area." [url:https\://en.wikipedia.org/wiki/Germinoma] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "germinoma of the pediatric brain" EXACT [] xref: NCI:C6207 xref: UMLS_CUI:C1332948 is_a: DOID:2127 ! brain germinoma [Term] id: DOID:743 name: dermatographia def: "A physical urticaria induced by stroking of the skin." [url:http\://en.wikipedia.org/wiki/Dermatographic_urticaria, url:http\://www.dermnetnz.org/reactions/urticaria.html] subset: NCIthesaurus synonym: "dermatographic urticaria" EXACT [] synonym: "dermographism" EXACT [] xref: ICD10CM:L50.3 xref: ICD9CM:708.3 xref: MIM:125635 xref: NCI:C111885 xref: SNOMEDCT_US_2023_03_01:201263000 xref: UMLS_CUI:C0343065 is_a: DOID:0060220 ! physical urticaria [Term] id: DOID:7430 name: childhood germ cell brain tumor def: "A central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells." [url:https\://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood germ cell brain tumour" EXACT [] synonym: "germ cell neoplasm of the paediatric brain" EXACT [] synonym: "germ cell neoplasm of the pediatric brain" EXACT [] xref: NCI:C5795 xref: UMLS_CUI:C1377598 is_a: DOID:1319 ! brain cancer is_a: DOID:6052 ! central nervous system childhood germ cell tumor [Term] id: DOID:7435 name: polyvesicular vitelline pattern testicular yolk sac tumor subset: NCIthesaurus xref: NCI:C39930 xref: UMLS_CUI:C1515311 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:7436 name: sarcomatoid uterine corpus endometrioid adenocarcinoma def: "An endometrial adenocarcinoma that has_material_basis_in mesenchymal elements." [url:https\://en.wikipedia.org/wiki/Sarcomatoid_carcinoma] subset: NCIthesaurus xref: NCI:C27850 xref: UMLS_CUI:C1336913 is_a: DOID:2870 ! endometrial adenocarcinoma [Term] id: DOID:7437 name: uterus perivascular epithelioid cell tumor def: "A perivascular epithelioid cell tumor that is located_in the uterus." [url:http\://www.pathologyoutlines.com/topic/uterusPEComa.html, url:https\://en.wikipedia.org/wiki/Perivascular_epithelioid_cell_tumour, url:https\://www.ncbi.nlm.nih.gov/pubmed/24698426] subset: NCIthesaurus synonym: "uterine corpus PEComa" EXACT [] xref: NCI:C40180 xref: UMLS_CUI:C1519862 is_a: DOID:2643 ! perivascular epithelioid cell tumor is_a: DOID:9460 ! uterine corpus cancer [Term] id: DOID:7438 name: ovarian clear cell cystadenocarcinoma def: "An ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22747504] subset: NCIthesaurus xref: NCI:C7980 xref: UMLS_CUI:C0279667 is_a: DOID:3605 ! ovarian cystadenocarcinoma [Term] id: DOID:7439 name: polyp of middle ear subset: NCIthesaurus synonym: "polyp - middle ear" EXACT [] synonym: "polyp of the middle ear" EXACT [] xref: ICD10CM:H74.4 xref: NCI:C6933 xref: SNOMEDCT_US_2023_03_01:155244001 xref: UMLS_CUI:C0271466 is_a: DOID:5100 ! middle ear disease [Term] id: DOID:744 name: obsolete Muscle calcification and ossification is_obsolete: true [Term] id: DOID:7441 name: chronic metabolic polyneuropathy subset: NCIthesaurus xref: NCI:C35602 xref: UMLS_CUI:C1333042 is_a: DOID:5221 ! chronic polyneuropathy [Term] id: DOID:7442 name: monoclonal gammopathy of uncertain significance def: "A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood." [url:https\://rarediseases.info.nih.gov/diseases/7034/monoclonal-gammopathy-of-undetermined-significance, url:https\://www.mayoclinic.org/diseases-conditions/mgus/symptoms-causes/syc-20352362] subset: DO_rare_slim synonym: "MGUS" EXACT OMO:0003012 [] synonym: "Monoclonal gammopathy of undetermined significance" EXACT [] xref: GARD:7034 is_a: DOID:620 ! blood protein disease [Term] id: DOID:7444 name: obsolete diffuse intraductal papillomatosis synonym: "Diffuse intraductal papillomatosis" EXACT [] xref: NCI:C7364 xref: UMLS_CUI:C1377912 is_obsolete: true [Term] id: DOID:745 name: epididymis adenomatoid tumor def: "A male reproductive organ benign neoplasm that is located_in the epididymis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19893140] subset: NCIthesaurus synonym: "adenomatoid neoplasm of the epididymis" RELATED [] synonym: "benign Epididymal epithelial Mesothelioma" EXACT [] xref: NCI:C6382 xref: SNOMEDCT_US_2023_03_01:449052009 xref: UMLS_CUI:C1333415 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:7455 name: obsolete hypogonadotropism is_obsolete: true [Term] id: DOID:7457 name: enterobiasis alt_id: DOID:7458 def: "A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Enterobiasis.htm, url:http\://www.merck.com/mmpe/sec14/ch182/ch182h.html?qt=enterobiasis&alt=sh] subset: DO_infectious_disease_slim synonym: "Enterobius vermicularis infection" RELATED [] synonym: "oxyuriasis" RELATED [] synonym: "Oxyuris vermicularis infection" EXACT [] synonym: "Pinworm infection" RELATED [] synonym: "Threadworm infection" EXACT [] xref: ICD10CM:B80 xref: MESH:D010123 xref: SNOMEDCT_US_2023_03_01:154415009 xref: UMLS_CUI:C0030100 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:7459 name: acantholytic variant squamous cell breast carcinoma def: "A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3223956/] subset: NCIthesaurus xref: NCI:C40359 xref: UMLS_CUI:C1519485 is_a: DOID:5514 ! breast squamous cell carcinoma [Term] id: DOID:746 name: adenomatoid tumor subset: DO_cancer_slim subset: NCIthesaurus synonym: "adenomatoid tumour" EXACT [] synonym: "benign localised epithelial Mesothelioma" EXACT [] synonym: "benign localized epithelial Mesothelioma" EXACT [] xref: ICD10CM:D19.9 xref: ICDO:9054/0 xref: MESH:D018254 xref: NCI:C3762 xref: SNOMEDCT_US_2023_03_01:2348006 xref: UMLS_CUI:C0206675 is_a: DOID:2645 ! benign mesothelioma property_value: exactMatch "MESH:D018254" xsd:string [Term] id: DOID:7460 name: spindle cell variant squamous cell breast carcinoma def: "A breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25822766] subset: NCIthesaurus xref: NCI:C40358 xref: UMLS_CUI:C1519487 is_a: DOID:5514 ! breast squamous cell carcinoma [Term] id: DOID:7461 name: large cell keratinizing variant squamous cell breast carcinoma def: "A breast squamous cell carcinoma characterized by large epithelial cells that contain keratin." [url:https\://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C1519486] subset: NCIthesaurus xref: NCI:C40357 xref: UMLS_CUI:C1519486 is_a: DOID:5514 ! breast squamous cell carcinoma [Term] id: DOID:7463 name: childhood pleomorphic rhabdomyosarcoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood anaplastic Rhabdomyosarcoma" EXACT [] xref: NCI:C7959 xref: UMLS_CUI:C0279614 is_a: DOID:3250 ! pleomorphic rhabdomyosarcoma [Term] id: DOID:7465 name: chronic NK-cell lymphocytosis def: "A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8624463] subset: NCIthesaurus synonym: "NK-cell large granular Lymphocyte Lymphocytosis" EXACT [] xref: NCI:C39591 xref: SNOMEDCT_US_2023_03_01:722955006 xref: UMLS_CUI:C1512709 is_a: DOID:2916 ! hypersensitivity reaction type IV disease [Term] id: DOID:7468 name: obsolete Spitz nevus synonym: "desmoplastic nevus" EXACT [] synonym: "desmoplastic nevus of skin (disorder)" EXACT [] synonym: "Epithelioid and spindle-cell nevus" EXACT [] is_obsolete: true [Term] id: DOID:7469 name: obsolete balloon cell nevus synonym: "Balloon cell nevus" EXACT [] synonym: "Balloon cell nevus (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:7470 name: obsolete neural nevus synonym: "neuronevus (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:7471 name: obsolete deep penetrating nevus is_obsolete: true [Term] id: DOID:7472 name: obsolete recurrent nevus is_obsolete: true [Term] id: DOID:7473 name: obsolete recurrent malignant pleural mesothelioma synonym: "relapsed malignant Pleural Mesothelioma" EXACT [] is_obsolete: true [Term] id: DOID:7474 name: malignant pleural mesothelioma def: "A pleural cancer that has_material_basis_in mesothelium cells." [url:http\://en.wikipedia.org/wiki/Mesothelioma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "malignant mesothelioma of pleura" EXACT [] xref: ICD10CM:C45.0 xref: MESH:D000086002 xref: NCI:C7376 xref: SNOMEDCT_US_2023_03_01:254645002 xref: UMLS_CUI:C0812413 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:1532 ! pleural disease is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:5158 ! pleural cancer [Term] id: DOID:7475 name: diverticulitis def: "An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall." [url:https\://en.wikipedia.org/wiki/Diverticulitis] subset: NCIthesaurus xref: MESH:D004238 xref: NCI:C26752 xref: SNOMEDCT_US_2023_03_01:155779000 xref: UMLS_CUI:C0012813 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:7479 name: duodenal somatostatinoma subset: NCIthesaurus synonym: "duodenal delta cell somatostatin producing tumor" EXACT [] xref: NCI:C27407 xref: UMLS_CUI:C1333320 is_a: DOID:10021 ! duodenum cancer [Term] id: DOID:7480 name: large cell carcinoma with rhabdoid phenotype subset: NCIthesaurus synonym: "large cell lung carcinoma with Rhabdoid Phenotype" EXACT [] xref: ICDO:8014/3 xref: NCI:C6876 xref: SNOMEDCT_US_2023_03_01:128629005 xref: UMLS_CUI:C1265997 is_a: DOID:4556 ! lung large cell carcinoma [Term] id: DOID:7482 name: petrous apex meningioma subset: NCIthesaurus synonym: "meningioma of the Petrous Ridge" EXACT [] xref: NCI:C5271 xref: UMLS_CUI:C1335396 is_a: DOID:3565 ! meningioma [Term] id: DOID:7483 name: cervical keratinizing squamous cell carcinoma def: "A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11688467, url:https\://www.ncbi.nlm.nih.gov/pubmed/31651557] subset: NCIthesaurus xref: NCI:C40187 xref: UMLS_CUI:C1517658 is_a: DOID:3744 ! cervical squamous cell carcinoma [Term] id: DOID:7486 name: obsolete metastatic renal cell carcinoma synonym: "metastatic renal cell cancer" EXACT [] is_obsolete: true [Term] id: DOID:7488 name: posterior urethra cancer def: "A female urethral cancer located_in the posterior urethra." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/posterior-urethral-cancer] subset: NCIthesaurus synonym: "Posterior urethral malignant tumor" EXACT [] xref: NCI:C7640 xref: UMLS_CUI:C0279931 is_a: DOID:738 ! female urethral cancer [Term] id: DOID:7489 name: Osgood-Schlatter's disease def: "A bone inflammation disease that involves rupture of the growth plate in children located_in tibia." [url:http\://en.wikipedia.org/wiki/Osgood%E2%80%93Schlatter_disease, url:http\://www.mayoclinic.com/health/osgood-schlatter-disease/DS00392, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001258.htm] subset: NCIthesaurus synonym: "juvenile osteochondrosis of tibial tubercle" EXACT [] synonym: "Osgood-Schlatter disease" EXACT [] synonym: "Osteochondritis of tibial tubercle" EXACT [] synonym: "Osteochondrosis of proximal tibia" EXACT [] xref: ICD10CM:M92.52 xref: MESH:D055034 xref: NCI:C34874 xref: SNOMEDCT_US_2023_03_01:72047008 xref: UMLS_CUI:C0029376 is_a: DOID:3342 ! bone inflammation disease [Term] id: DOID:749 name: active peptic ulcer disease synonym: "GI Bleeding" RELATED [] is_a: DOID:750 ! peptic ulcer disease [Term] id: DOID:7491 name: vulvar proximal-type epithelioid sarcoma subset: NCIthesaurus xref: NCI:C40319 xref: UMLS_CUI:C1520093 is_a: DOID:2096 ! vulvar sarcoma is_a: DOID:7492 ! central epithelioid sarcoma [Term] id: DOID:7492 name: central epithelioid sarcoma subset: NCIthesaurus xref: NCI:C27472 xref: UMLS_CUI:C1335563 is_a: DOID:6193 ! epithelioid sarcoma [Term] id: DOID:7497 name: brain ependymoma def: "A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children." [url:https\://en.wikipedia.org/wiki/Ependyma, url:https\://en.wikipedia.org/wiki/Ependymoma] subset: NCIthesaurus synonym: "Ependymal tumor of brain" EXACT [] synonym: "Ependymoma of brain" EXACT [] xref: NCI:C3861 xref: SNOMEDCT_US_2023_03_01:254939008 xref: UMLS_CUI:C0238029 is_a: DOID:0060108 ! brain glioma is_a: DOID:5612 ! spinal cancer [Term] id: DOID:7498 name: obsolete AIDS-related Human papillomavirus infectious disease def: "A papillomavirus infectious disease and complicated_by acquired immunodeficiency syndrome that results_in infection, has_material_basis_in human papillomavirus, in patients with AIDS." [url:http\://www.aids.org/topics/human-papillomavirus-hpv/] subset: sexually_transmitted_infectious_disease is_obsolete: true [Term] id: DOID:75 name: lymphatic system disease def: "An immune system disease that is located_in the lymphatic system." [url:http\://en.wikipedia.org/wiki/Lymphatic_disease, url:http\://www.nlm.nih.gov/medlineplus/lymphaticdiseases.html] subset: DO_RAD_slim synonym: "disease of lympoid system" EXACT [] synonym: "disorder of lymph node and lymphatics" EXACT [] synonym: "disorder of lymphatic system" EXACT [] synonym: "disorder of lymphoid system" EXACT [] synonym: "Lymphangiopathy" EXACT [] synonym: "Lymphatic disease" EXACT [] synonym: "lymphatic disorder" EXACT [] synonym: "lympoid system disease" EXACT [] xref: MESH:D008206 xref: SNOMEDCT_US_2023_03_01:266326002 xref: UMLS_CUI:C0024228 is_a: DOID:2914 ! immune system disease [Term] id: DOID:750 name: peptic ulcer disease alt_id: DOID:11466 alt_id: DOID:12635 alt_id: DOID:13115 subset: NCIthesaurus synonym: "acute peptic ulcer with hemorrhage" EXACT [] synonym: "acute peptic ulcer with hemorrhage and perforation" EXACT [] synonym: "acute peptic ulcer without hemorrhage and without perforation" EXACT [] xref: ICD10CM:K27 xref: ICD9CM:533 xref: MESH:D010437 xref: NCI:C3318 xref: SNOMEDCT_US_2023_03_01:155701001 xref: UMLS_CUI:C0030920 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:7501 name: childhood infratentorial ependymoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric infratentorial ependymoma" EXACT [] xref: NCI:C9041 xref: UMLS_CUI:C0278599 is_a: DOID:4706 ! infratentorial cancer [Term] id: DOID:7502 name: childhood supratentorial ependymoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "paediatric Cerebral Ependymoma" EXACT [] synonym: "paediatric Supratentorial Ependymoblastoma" EXACT [] synonym: "paediatric supratentorial ependymoma" EXACT [] synonym: "pediatric Cerebral Ependymoma" EXACT [] synonym: "pediatric Supratentorial Ependymoblastoma" EXACT [] synonym: "pediatric supratentorial ependymoma" EXACT [] xref: NCI:C9043 xref: UMLS_CUI:C0278650 is_a: DOID:1659 ! supratentorial cancer [Term] id: DOID:7503 name: extrahepatic bile duct papillary adenoma def: "An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20690568] subset: NCIthesaurus synonym: "Papillary adenoma of the extrahepatic bile duct" EXACT [] xref: NCI:C5849 xref: UMLS_CUI:C1333510 is_a: DOID:5438 ! extrahepatic bile duct adenoma [Term] id: DOID:7504 name: obsolete mixed embryonal carcinoma and endodermal sinus neoplasm of the testis synonym: "testicular mixed Embryonal carcinoma and Yolk Sac tumor" EXACT [] is_obsolete: true [Term] id: DOID:7505 name: small intestine benign neoplasm subset: NCIthesaurus synonym: "neoplasm of small intestine" EXACT [] synonym: "small intestinal neoplasm" EXACT [] xref: NCI:C4432 xref: SNOMEDCT_US_2023_03_01:126832004 xref: UMLS_CUI:C0345832 is_a: DOID:4610 ! intestinal benign neoplasm [Term] id: DOID:7506 name: small intestinal L-cell glucagon-like peptide producing tumor subset: NCIthesaurus xref: NCI:C27452 xref: UMLS_CUI:C3274143 is_a: DOID:10154 ! small intestine cancer [Term] id: DOID:7507 name: obsolete malformation of placenta synonym: "Placenta Malformation" EXACT [] synonym: "Variation of placenta form" EXACT [] is_obsolete: true [Term] id: DOID:7511 name: breast intraductal papillomatosis alt_id: DOID:1634 def: "A benign breast neoplasm characterized by the presence of multiple intraductal papillomas." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23640929] subset: NCIthesaurus synonym: "breast papillomatosis" EXACT [] synonym: "Intraductal papillomatosis of the breast" EXACT [] xref: NCI:C5201 xref: UMLS_CUI:C1334247 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:7512 name: obsolete localized intraductal papillomatosis comment: Obsolete Concept in NCI, LS. xref: NCI:C7365 is_obsolete: true [Term] id: DOID:7514 name: Wolffian adnexal neoplasm subset: NCIthesaurus xref: MESH:C536741 xref: NCI:C40141 xref: UMLS_CUI:C1520159 is_a: DOID:5727 ! uterine ligament cancer [Term] id: DOID:7515 name: lumbar spinal canal and spinal cord meningioma subset: NCIthesaurus synonym: "meningioma of Lumbar Spinal canal and Spinal Cord" EXACT [] xref: NCI:C5298 xref: UMLS_CUI:C1334436 is_a: DOID:1140 ! spinal canal and spinal cord meningioma [Term] id: DOID:7516 name: childhood central nervous system mixed germ cell tumor def: "A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells." [url:https\://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: NCI:C27403 xref: UMLS_CUI:C1332956 is_a: DOID:1319 ! brain cancer is_a: DOID:6052 ! central nervous system childhood germ cell tumor [Term] id: DOID:7517 name: obsolete central nervous system mixed germ cell tumor synonym: "mixed germ cell tumor of CNS" EXACT [] is_obsolete: true [Term] id: DOID:7518 name: inhibited female orgasm subset: NCIthesaurus synonym: "female Orgasmic disorder" EXACT [] xref: ICD10CM:F52.31 xref: ICD9CM:302.73 xref: NCI:C34958 xref: SNOMEDCT_US_2023_03_01:60103007 xref: UMLS_CUI:C0033948 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:7519 name: endocervical carcinoma def: "A cervix carcinoma that is located_in the endocervix." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2067992] synonym: "carcinoma of endocervix" EXACT [] synonym: "carcinoma of the Endocervix" EXACT [] xref: SNOMEDCT_US_2023_03_01:372098004 xref: UMLS_CUI:C1299237 is_a: DOID:2893 ! cervix carcinoma [Term] id: DOID:752 name: peptic ulcer perforation alt_id: DOID:751 synonym: "acute peptic ulcer with perforation" EXACT [] synonym: "Peptic ulcer with perforation" EXACT [] synonym: "Perforated peptic ulcer" EXACT [] xref: MESH:D010439 xref: SNOMEDCT_US_2023_03_01:88169003 xref: UMLS_CUI:C0030925 is_a: DOID:750 ! peptic ulcer disease [Term] id: DOID:7520 name: periductal breast myoepitheliosis def: "A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23533258] subset: NCIthesaurus xref: NCI:C40388 xref: UMLS_CUI:C1518974 is_a: DOID:7521 ! breast myoepitheliosis [Term] id: DOID:7521 name: breast myoepitheliosis def: "A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts." [url:http\://www.pathologyoutlines.com/topic/breastmyoepithelioma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/1709559] subset: NCIthesaurus xref: NCI:C40385 xref: UMLS_CUI:C1513799 is_a: DOID:3004 ! breast myoepithelial neoplasm [Term] id: DOID:7522 name: childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered def: "A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6773] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood infratentorial ependymoblastoma" EXACT [] synonym: "pediatric infratentorial ependymoblastoma" EXACT [] xref: NCI:C6773 xref: UMLS_CUI:C1332972 is_a: DOID:4207 ! childhood infratentorial neoplasm is_a: DOID:7841 ! childhood embryonal tumor with multilayered rosettes, C19MC-altered [Term] id: DOID:7526 name: obsolete metastatic neoplasm to the ciliary body synonym: "metastatic tumor to the Ciliary body" EXACT [] is_obsolete: true [Term] id: DOID:7527 name: acute gonococcal endometritis def: "An acute endometritis that is caused by gonorrhea." [url:https\://en.wikipedia.org/wiki/Endometritis] synonym: "acute gonorrhea of uterus" EXACT [] synonym: "Gonococcal endometritis" EXACT [] synonym: "Uterus - acute gonorrhoea" EXACT [] xref: ICD9CM:098.16 xref: SNOMEDCT_US_2023_03_01:186913003 xref: UMLS_CUI:C0153196 is_a: DOID:7528 ! acute endometritis [Term] id: DOID:7528 name: acute endometritis def: "An endometritis that is characterized by onset within the past 1 - 3 days." [url:https\://librepathology.org/wiki/Endometritis, url:https\://www.ncbi.nlm.nih.gov/pubmed/23537790] subset: NCIthesaurus xref: NCI:C27022 xref: SNOMEDCT_US_2023_03_01:155976002 xref: UMLS_CUI:C0238103 is_a: DOID:1002 ! endometritis [Term] id: DOID:7531 name: anal gland adenocarcinoma def: "An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland." [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] subset: NCIthesaurus synonym: "adenocarcinoma of anal ducts" EXACT [] synonym: "adenocarcinoma of anal gland" RELATED [] synonym: "anal glands adenocarcinoma" EXACT [] xref: NCI:C5609 xref: SNOMEDCT_US_2023_03_01:128655006 xref: UMLS_CUI:C1266027 is_a: DOID:3447 ! anus adenocarcinoma [Term] id: DOID:7532 name: squamous papillomatosis subset: NCIthesaurus xref: ICDO:8060/0 xref: NCI:C9009 xref: SNOMEDCT_US_2023_03_01:82049002 xref: UMLS_CUI:C1378340 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm [Term] id: DOID:7533 name: subareolar duct papillomatosis subset: NCIthesaurus xref: NCI:C9008 is_a: DOID:3003 ! nipple benign neoplasm [Term] id: DOID:7537 name: breast cystic hypersecretory carcinoma def: "A breast secretory carcinoma that is characterized by numerous cysts of varying sizes containing gelatinous material on gross examination, microscopically dilated ducts containing eosinophilic secretion and the absence of micropapillary pattern and cytological atypia in the lining epithelium." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535374/] synonym: "cystic hypersecretory carcinoma of the breast" RELATED [] synonym: "cystic hypersecretory duct carcinoma of the breast" EXACT [] is_a: DOID:4922 ! breast secretory carcinoma [Term] id: DOID:7538 name: breast ductal adenoma def: "A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component." [url:http\://surgpathcriteria.stanford.edu/breast/ductaladenomabr/printable.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/25862065] subset: NCIthesaurus xref: NCI:C40384 xref: UMLS_CUI:C1511307 is_a: DOID:1625 ! breast adenoma [Term] id: DOID:7539 name: pregnancy adenoma def: "A breast adenoma that occurs during pregnancy." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25835417] subset: NCIthesaurus synonym: "Lactating adenoma" EXACT [] xref: NCI:C9473 xref: SNOMEDCT_US_2023_03_01:128651002 xref: UMLS_CUI:C1266023 is_a: DOID:1625 ! breast adenoma [Term] id: DOID:754 name: bladder tuberculosis def: "An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles." [url:https\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease synonym: "Tuberculosis of bladder" EXACT [] synonym: "Tuberculous cystitis" EXACT [] xref: ICD10CM:A18.12 xref: ICD9CM:016.1 xref: SNOMEDCT_US_2023_03_01:32268008 xref: UMLS_CUI:C0152793 is_a: DOID:2149 ! urogenital tuberculosis is_a: DOID:365 ! bladder disease [Term] id: DOID:7540 name: breast apocrine adenoma def: "A breast adenoma that is characterized by apocine differentiation." [url:http\://surgpathcriteria.stanford.edu/breast/apocrineadenomabr/printable.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/17936522] subset: NCIthesaurus xref: NCI:C40383 xref: UMLS_CUI:C1388299 is_a: DOID:1625 ! breast adenoma [Term] id: DOID:7541 name: mixed epithelial/mesenchymal metaplastic breast carcinoma def: "A breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976087/] subset: NCIthesaurus xref: NCI:C40364 xref: UMLS_CUI:C1513365 is_a: DOID:4680 ! breast metaplastic carcinoma [Term] id: DOID:7542 name: osteosarcoma arising in bone Paget's disease subset: NCIthesaurus synonym: "osteosarcoma arising in bone Paget disease" EXACT [] synonym: "Osteosarcoma Arising in osseous Paget's disease" EXACT [] xref: NCI:C6469 xref: SNOMEDCT_US_2023_03_01:33681003 xref: UMLS_CUI:C0334546 is_a: DOID:3376 ! bone osteosarcoma [Term] id: DOID:7543 name: obsolete recurrent squamous cell carcinoma of the esophagus synonym: "recurrent squamous cell carcinoma of esophagus" EXACT [] is_obsolete: true [Term] id: DOID:7544 name: obsolete recurrent esophagus cancer synonym: "relapsed carcinoma of the esophagus" EXACT [] is_obsolete: true [Term] id: DOID:7549 name: ceruminoma subset: NCIthesaurus synonym: "Ceruminous adenoma" EXACT [] xref: NCI:C6088 xref: SNOMEDCT_US_2023_03_01:403945001 xref: UMLS_CUI:C0334352 is_a: DOID:5876 ! apocrine sweat gland neoplasm [Term] id: DOID:7551 name: gonorrhea alt_id: DOID:10409 alt_id: DOID:13557 def: "A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods." [url:http\://www.cdc.gov/std/gonorrhea/STDFact-gonorrhea.htm] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: sexually_transmitted_infectious_disease synonym: "chronic gonococcal infectious disease of lower genitourinary tract" EXACT [] synonym: "chronic gonococcal infectious disease of upper genitourinary tract" EXACT [] xref: ICD10CM:A54 xref: ICD9CM:098 xref: MEDDRA:10018604 xref: MESH:D006069 xref: NCI:C92950 xref: SNOMEDCT_US_2023_03_01:186943001 xref: UMLS_CUI:C0018081 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:1962 ! fallopian tube disease [Term] id: DOID:7553 name: infiltrating bladder urothelial carcinoma sarcomatoid variant alt_id: DOID:7552 alt_id: DOID:7800 subset: NCIthesaurus synonym: "Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements" EXACT [] synonym: "Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements" EXACT [] xref: NCI:C39824 xref: UMLS_CUI:C1512743 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma [Term] id: DOID:7554 name: obsolete Paget's disease and intraductal carcinoma of breast synonym: "Paget's disease and intraductal carcinoma of breast" EXACT [] synonym: "Paget's disease and intraductal carcinoma of breast (morphologic abnormality)" EXACT [] synonym: "Paget's disease of the breast with Intraductal carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:7555 name: obsolete HIV leukoencephalopathy def: "A HIV encephalopathy that results_in inflammation located_in white matter of neuraxis, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom weakness, has_symptom paralysis, has_symptom vision loss, has_symptom impaired speech, and has_symptom cognitive deterioration." [url:http\://emedicine.medscape.com/article/1167145-overview, url:http\://en.wikipedia.org/wiki/Progressive_multifocal_leukoencephalopathy] subset: zoonotic_infectious_disease synonym: "Human immunodefiency virus leukoencephalopathy (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:7558 name: glossopharyngeal motor neuropathy subset: NCIthesaurus xref: MESH:D020435 xref: NCI:C27212 xref: UMLS_CUI:C0751942 is_a: DOID:3418 ! glossopharyngeal nerve disease is_a: DOID:683 ! motor neuritis [Term] id: DOID:7559 name: asymmetric motor neuropathy subset: NCIthesaurus xref: NCI:C27953 xref: UMLS_CUI:C1332341 is_a: DOID:683 ! motor neuritis [Term] id: DOID:7565 name: vulvar eccrine porocarcinoma def: "A vulva carcinoma that is characterized by heterogenous histology that includes squamous cells, mucinous cells, clear cells, pigmented cells, and spindle cells and derives_from eccrine sweat glands." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5105286/] subset: NCIthesaurus xref: NCI:C40306 xref: UMLS_CUI:C1520081 is_a: DOID:1294 ! vulva carcinoma [Term] id: DOID:7566 name: eccrine porocarcinoma subset: DO_rare_slim subset: NCIthesaurus synonym: "Eccrine porocarcinoma of skin" EXACT [] synonym: "malignant Eccrine Poroma" EXACT [] synonym: "Porocarcinoma" EXACT [] xref: GARD:7431 xref: MESH:D057090 xref: NCI:C5560 xref: SNOMEDCT_US_2023_03_01:254708001 xref: UMLS_CUI:C1266065 is_a: DOID:4921 ! eccrine sweat gland cancer [Term] id: DOID:7567 name: vulvar clear cell hidradenocarcinoma def: "A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells." [url:https\://pubmed.ncbi.nlm.nih.gov/8428700/] subset: NCIthesaurus xref: NCI:C40307 xref: UMLS_CUI:C1520076 is_a: DOID:1294 ! vulva carcinoma [Term] id: DOID:7568 name: obsolete adult brain meningioma is_obsolete: true [Term] id: DOID:757 name: obsolete thyrotoxicosis with toxic single thyroid nodule is_obsolete: true [Term] id: DOID:7571 name: malignant cystic nephroma subset: DO_cancer_slim synonym: "malignant multilocular cystic nephroma" EXACT [] xref: ICDO:8959/3 is_a: DOID:0080616 ! kidney cortex disease is_a: DOID:263 ! kidney cancer [Term] id: DOID:7574 name: pancreatic intraductal papillary-colloid carcinoma subset: NCIthesaurus synonym: "Intraductal Papillary-mucinous carcinoma of pancreas" EXACT [] xref: NCI:C5725 xref: UMLS_CUI:C1335304 is_a: DOID:4074 ! pancreatic adenocarcinoma is_a: DOID:7575 ! pancreatic intraductal papillary-mucinous neoplasm [Term] id: DOID:7575 name: pancreatic intraductal papillary-mucinous neoplasm def: "A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C38342] synonym: "Pancreatic Intraductal Neoplasms" BROAD [] xref: SNOMEDCT_US_2023_03_01:128689007 xref: UMLS_CUI:C1266071 is_a: DOID:1795 ! malignant exocrine pancreas neoplasm [Term] id: DOID:7576 name: obsolete metastatic pancreatic adenocarcinoma is_obsolete: true [Term] id: DOID:7577 name: pancreatic foamy gland adenocarcinoma subset: NCIthesaurus xref: NCI:C37256 xref: UMLS_CUI:C1335303 is_a: DOID:4074 ! pancreatic adenocarcinoma [Term] id: DOID:7578 name: breast scirrhous carcinoma def: "A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132957/] subset: NCIthesaurus synonym: "Infiltrating carcinoma of breast with Fibrotic Stroma" EXACT [] synonym: "scirrhous carcinoma of breast" EXACT [] xref: NCI:C7362 xref: SNOMEDCT_US_2023_03_01:254839007 xref: UMLS_CUI:C0346151 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:758 name: situs inversus def: "A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs." [url:https\://en.wikipedia.org/wiki/Situs_inversus, url:https\://rarediseases.info.nih.gov/diseases/4883/situs-inversus] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Complete transposition" EXACT [] synonym: "Laterality sequence" EXACT [] synonym: "situs inversus viscerum" EXACT [] xref: GARD:4883 xref: ICD10CM:Q89.3 xref: ICD9CM:759.3 xref: MESH:D012857 xref: MIM:270100 xref: NCI:C87121 xref: SNOMEDCT_US_2023_03_01:157033002 xref: UMLS_CUI:C0037221 is_a: DOID:0050545 ! visceral heterotaxy [Term] id: DOID:7581 name: obsolete psychogenic depressive psychosis synonym: "Depressive type psychosis" EXACT [] synonym: "psychotic depression" EXACT [] synonym: "Severe major depression with psychotic features (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:7583 name: glottis verrucous carcinoma subset: NCIthesaurus synonym: "Glottic verrucous carcinoma" EXACT [] synonym: "verrucous carcinoma of glottis" RELATED [] xref: NCI:C8189 xref: UMLS_CUI:C0280329 is_a: DOID:7031 ! glottis squamous cell carcinoma [Term] id: DOID:7584 name: subglottis verrucous carcinoma subset: NCIthesaurus synonym: "verrucous carcinoma of Subglottis" EXACT [] synonym: "verrucous carcinoma of the subglottis" RELATED [] xref: NCI:C8190 xref: UMLS_CUI:C0280330 is_a: DOID:7585 ! subglottis squamous cell carcinoma [Term] id: DOID:7585 name: subglottis squamous cell carcinoma subset: NCIthesaurus synonym: "Epidermoid carcinoma of the Subglottis" EXACT [] xref: NCI:C8187 xref: UMLS_CUI:C0280326 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:7764 ! subglottis carcinoma [Term] id: DOID:7586 name: supraglottis verrucous carcinoma subset: NCIthesaurus synonym: "verrucous carcinoma of Supraglottis" EXACT [] synonym: "verrucous carcinoma of the supraglottis" RELATED [] xref: NCI:C8191 xref: UMLS_CUI:C0280331 is_a: DOID:7587 ! supraglottis squamous cell carcinoma [Term] id: DOID:7587 name: supraglottis squamous cell carcinoma subset: NCIthesaurus synonym: "Epidermoid carcinoma of the Supraglottis" EXACT [] xref: NCI:C4945 xref: UMLS_CUI:C0749163 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:7763 ! carcinoma of supraglottis [Term] id: DOID:7588 name: obsolete mixed endodermal sinus neoplasm and teratoma of the testis synonym: "mixed Yolk Sac tumor and teratoma of testis" EXACT [] is_obsolete: true [Term] id: DOID:7589 name: obsolete ovarian dermoid cyst with melanocytic nevus is_obsolete: true [Term] id: DOID:759 name: obsolete congenital disorder synonym: "congenital abnormality" EXACT [] is_obsolete: true [Term] id: DOID:7590 name: obsolete ovarian dermoid cyst with secondary melanocytic lesion is_obsolete: true [Term] id: DOID:7591 name: gestational ovarian choriocarcinoma def: "A choriocarcinoma of the ovary that develops in the presence of a preceding gestational event." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520233/] subset: NCIthesaurus xref: NCI:C40442 xref: UMLS_CUI:C1517538 is_a: DOID:5550 ! choriocarcinoma of ovary [Term] id: DOID:7593 name: obsolete recurrent pediatric medulloblastoma synonym: "relapsed pediatric Medulloblastoma" EXACT [] is_obsolete: true [Term] id: DOID:7596 name: asbestos-related lung carcinoma subset: NCIthesaurus xref: NCI:C27925 xref: UMLS_CUI:C1332337 is_a: DOID:3905 ! lung carcinoma [Term] id: DOID:7598 name: cervical lymphoepithelioma-like carcinoma def: "A cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei with prominent nucleoli and moderate amounts of slightly eosinophilic cytoplasm. The cell borders are indistinct." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28217683] subset: NCIthesaurus xref: NCI:C40193 xref: UMLS_CUI:C1516418 is_a: DOID:3744 ! cervical squamous cell carcinoma [Term] id: DOID:7599 name: lymphoepithelioma-like thymic carcinoma subset: NCIthesaurus synonym: "Lymphoepithelioma-like carcinoma of the Thymus" EXACT [] xref: NCI:C7998 xref: UMLS_CUI:C0279706 is_a: DOID:3284 ! thymic carcinoma [Term] id: DOID:76 name: stomach disease def: "A gastrointestinal system disease that is located_in the stomach." [url:http\://en.wikipedia.org/wiki/Stomach_disease] subset: NCIthesaurus synonym: "gastric disease" RELATED [] synonym: "Gastropathy" EXACT [] synonym: "stomach disorder" EXACT [] xref: MESH:D013272 xref: NCI:C26886 xref: SNOMEDCT_US_2023_03_01:196598004 xref: UMLS_CUI:C0038354 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:7600 name: infiltrating bladder lymphoepithelioma-like carcinoma subset: NCIthesaurus xref: NCI:C39821 xref: UMLS_CUI:C1512736 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma [Term] id: DOID:7601 name: obsolete advanced malignant pleural mesothelioma synonym: "Advanced malignant Mesothelioma of Pleura" EXACT [] is_obsolete: true [Term] id: DOID:7602 name: conventional osteosarcoma alt_id: DOID:3378 def: "A bone osteosarcoma that is characterized by the presence of osteoid extracellular matrix and that arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation." [url:https\://radiopaedia.org/articles/osteosarcoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "conventional central osteosarcoma" EXACT [] synonym: "intracortical osteogenic sarcoma" EXACT [] synonym: "Intracortical osteosarcoma" EXACT [] synonym: "Medullary Osteosarcoma" EXACT [] xref: ICDO:9195/3 xref: NCI:C35870 xref: SNOMEDCT_US_2023_03_01:128770002 xref: UMLS_CUI:C1266166 is_a: DOID:3376 ! bone osteosarcoma [Term] id: DOID:7603 name: fibrosarcomatous osteosarcoma subset: NCIthesaurus synonym: "Fibroblastic osteosarcoma" EXACT [] synonym: "Fibrosarcomatous Osteogenic sarcoma" EXACT [] xref: NCI:C4020 xref: SNOMEDCT_US_2023_03_01:12690005 xref: UMLS_CUI:C0279602 is_a: DOID:7602 ! conventional osteosarcoma [Term] id: DOID:7607 name: chief cell adenoma subset: NCIthesaurus synonym: "Chief cell adenoma of Parathyroid gland" EXACT [] xref: ICDO:8321/0 xref: NCI:C4154 xref: SNOMEDCT_US_2023_03_01:12205003 xref: UMLS_CUI:C0334320 is_a: DOID:7608 ! parathyroid adenoma [Term] id: DOID:7608 name: parathyroid adenoma def: "A parathyroid gland benign neoplam that is located_in the parathyroid." [url:https\://en.wikipedia.org/wiki/Parathyroid_adenoma] subset: NCIthesaurus synonym: "adenoma of parathyroid" RELATED [] synonym: "adenoma of the Parathyroid gland" EXACT [] xref: MESH:D010282 xref: NCI:C156757 xref: SNOMEDCT_US_2023_03_01:128474007 xref: UMLS_CUI:C0262587 is_a: DOID:60008 ! parathyroid gland benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:7609 name: parathyroid transitional clear cell adenoma subset: NCIthesaurus synonym: "Clear cell adenoma of the Parathyroid" EXACT [] xref: NCI:C7993 xref: UMLS_CUI:C0279700 is_a: DOID:7608 ! parathyroid adenoma [Term] id: DOID:761 name: obsolete meningococcal endocarditis subset: gram-negative_bacterial_infectious_disease synonym: "Meningococcal endocarditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:7610 name: mixed cell type adenoma of parathyroid subset: NCIthesaurus synonym: "mixed cell type adenoma of the Parathyroid gland" EXACT [] xref: NCI:C7994 xref: UMLS_CUI:C0279701 is_a: DOID:7608 ! parathyroid adenoma [Term] id: DOID:7611 name: parathyroid oncocytic adenoma subset: NCIthesaurus xref: NCI:C27393 xref: UMLS_CUI:C1335351 is_a: DOID:7608 ! parathyroid adenoma [Term] id: DOID:7612 name: childhood intracortical osteosarcoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: NCI:C6590 xref: UMLS_CUI:C1332974 is_a: DOID:7602 ! conventional osteosarcoma [Term] id: DOID:7613 name: sarcomatosis of the meninges subset: NCIthesaurus synonym: "Meningeal sarcomatosis" EXACT [] synonym: "sarcomatosis of meninges" EXACT [] xref: NCI:C4334 xref: SNOMEDCT_US_2023_03_01:14494009 xref: UMLS_CUI:C0334612 is_a: DOID:7614 ! meninges sarcoma [Term] id: DOID:7614 name: meninges sarcoma subset: NCIthesaurus synonym: "Meningeal sarcoma" EXACT [] synonym: "sarcoma of meninges" EXACT [] xref: NCI:C4073 xref: SNOMEDCT_US_2023_03_01:78303004 xref: UMLS_CUI:C0302327 is_a: DOID:1115 ! sarcoma is_a: DOID:3565 ! meningioma [Term] id: DOID:7615 name: sarcomatosis def: "A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body." [url:https\://www.merriam-webster.com/dictionary/sarcomatosis] subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8800/9 xref: NCI:C4243 xref: SNOMEDCT_US_2023_03_01:9395006 xref: UMLS_CUI:C0334451 is_a: DOID:1115 ! sarcoma [Term] id: DOID:762 name: obsolete bacterial endocarditis alt_id: DOID:14105 synonym: "acute and subacute bacterial endocarditis" EXACT [] synonym: "acute and subacute bacterial endocarditis (disorder)" EXACT [] synonym: "acute and subacute bacterial endocarditis NOS (disorder)" EXACT [] synonym: "Bacterial endocarditis" EXACT [] synonym: "bacterial endocarditis" EXACT [] synonym: "Bacterial endocarditis (& [acute] or [subacute])" EXACT [] synonym: "Bacterial endocarditis (disorder)" EXACT [] synonym: "Bacterial endocarditis (disorder) [Ambiguous]" EXACT [] synonym: "Endocarditis, infective NOS" EXACT [] is_obsolete: true [Term] id: DOID:763 name: obsolete meningococcal carditis subset: gram-negative_bacterial_infectious_disease synonym: "Meningococcal carditis (disorder)" EXACT [] synonym: "Meningococcal carditis NOS (disorder)" EXACT [] synonym: "Meningococcal carditis unspecified (disorder)" EXACT [] synonym: "Meningococcal carditis, unspecified" EXACT [] is_obsolete: true [Term] id: DOID:7631 name: adult embryonal tumor with multilayered rosettes, C19MC-altered def: "An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "adult ependymoblastoma" EXACT [] xref: NCI:C8290 xref: UMLS_CUI:C0281330 is_a: DOID:0080903 ! embryonal tumor with multilayered rosettes, C19MC-altered [Term] id: DOID:7632 name: Cowper gland carcinoma def: "A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland." [url:http\://en.wikipedia.org/wiki/Cowper_gland] subset: NCIthesaurus xref: NCI:C39864 xref: UMLS_CUI:C1516284 is_a: DOID:305 ! carcinoma is_a: DOID:3856 ! male reproductive organ cancer [Term] id: DOID:7633 name: macular holes subset: NCIthesaurus synonym: "Macular hole" EXACT [] xref: MESH:D012167 xref: NCI:C34795 xref: SNOMEDCT_US_2023_03_01:193388002 xref: UMLS_CUI:C0024441 is_a: DOID:5679 ! retinal disease [Term] id: DOID:7634 name: suprasellar meningioma subset: NCIthesaurus xref: NCI:C6776 xref: UMLS_CUI:C1336535 is_a: DOID:3565 ! meningioma [Term] id: DOID:7635 name: Gasserian ganglion meningioma subset: NCIthesaurus synonym: "meningioma of Gasserian Ganglion" EXACT [] xref: NCI:C6779 xref: UMLS_CUI:C1333760 is_a: DOID:3565 ! meningioma [Term] id: DOID:7636 name: obsolete recurrent cancer of small Intestine synonym: "relapsed carcinoma of the small Intestine" EXACT [] is_obsolete: true [Term] id: DOID:7638 name: obsolete Paget's disease and invasive ductal carcinoma of breast synonym: "Paget's disease of breast with Infiltrating ductal carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:7639 name: malignant granular cell skin tumor subset: NCIthesaurus synonym: "malignant granular cell skin neoplasm" EXACT [] synonym: "malignant granular cell skin tumour" EXACT [] synonym: "malignant granular cell tumor of skin" EXACT [] synonym: "malignant granular cell tumour of skin" EXACT [] xref: NCI:C5614 xref: UMLS_CUI:C1334575 is_a: DOID:5274 ! malignant dermis tumor [Term] id: DOID:764 name: obsolete meningococcal pericarditis subset: gram-negative_bacterial_infectious_disease synonym: "Meningococcal pericarditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:7641 name: obsolete non-resectable small intestine carcinoma synonym: "Unresectable Small Intestine carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:7642 name: cholangiolocellular carcinoma subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C41617 xref: UMLS_CUI:C1516490 is_a: DOID:4928 ! intrahepatic cholangiocarcinoma [Term] id: DOID:7643 name: acantholytic squamous cell skin carcinoma subset: NCIthesaurus synonym: "acantholytic squamous cell carcinoma of skin" EXACT [] xref: NCI:C4460 xref: SNOMEDCT_US_2023_03_01:254654004 xref: UMLS_CUI:C0345979 is_a: DOID:3151 ! skin squamous cell carcinoma [Term] id: DOID:7646 name: multiple spinal canal and spinal cord meningioma subset: NCIthesaurus synonym: "Multiple meningiomas of the Spinal canal and Spinal Cord" EXACT [] xref: NCI:C5275 xref: UMLS_CUI:C1334825 is_a: DOID:1140 ! spinal canal and spinal cord meningioma [Term] id: DOID:7650 name: pulmonary type ovarian small cell carcinoma def: "An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23896708] subset: NCIthesaurus xref: NCI:C40440 xref: UMLS_CUI:C1518737 is_a: DOID:6179 ! ovarian small cell carcinoma [Term] id: DOID:7651 name: small-cell carcinoma of the ovary of hypercalcemic type def: "An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939673/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "hypercalcemic type ovarian small cell carcinoma" EXACT [] xref: NCI:C40439 xref: UMLS_CUI:C1518736 is_a: DOID:6179 ! ovarian small cell carcinoma [Term] id: DOID:7652 name: obsolete rare cancer-associated syndrome is_obsolete: true [Term] id: DOID:7656 name: adult infiltrating astrocytic neoplasm subset: NCIthesaurus synonym: "adult Infiltrating Astrocytic tumor" EXACT [] synonym: "adult Infiltrating astrocytoma" EXACT [] xref: NCI:C8289 xref: UMLS_CUI:C0281329 is_a: DOID:3076 ! adult astrocytic tumor [Term] id: DOID:7657 name: obsolete anaplastic astrocytoma of adult synonym: "Undifferentiated astrocytoma of adult" EXACT [] is_obsolete: true [Term] id: DOID:7664 name: endometrial mixed adenocarcinoma def: "An endometrial adenocarcinoma that is composed of both type I (endometrioid) and type II (serous or clear cell type) tumors, with at least 10% of each component." [url:http\://www.pathologyoutlines.com/topic/uterusmixedcarcinoma.html] subset: NCIthesaurus xref: NCI:C40153 is_a: DOID:2870 ! endometrial adenocarcinoma [Term] id: DOID:7665 name: non-gestational ovarian choriocarcinoma def: "An ovarian primitive germ cell tumor that has_material_basis_in trophoblastic cells and develops in the absence of a preceding gestational event." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20090265] subset: NCIthesaurus xref: NCI:C39991 xref: UMLS_CUI:C1518355 is_a: DOID:5351 ! ovarian primitive germ cell tumor is_a: DOID:5550 ! choriocarcinoma of ovary [Term] id: DOID:767 name: muscular atrophy subset: NCIthesaurus synonym: "Amyotrophia" EXACT [] synonym: "Muscle wasting" EXACT [] synonym: "Wasting - muscle" EXACT [] xref: MESH:D009133 xref: NCI:C94834 xref: SNOMEDCT_US_2023_03_01:267693003 xref: UMLS_CUI:C0026846 is_a: DOID:423 ! myopathy [Term] id: DOID:7671 name: obsolete recurrent penis cancer synonym: "relapsed carcinoma of penis" EXACT [] is_obsolete: true [Term] id: DOID:7672 name: obsolete regressing non-cutaneous melanoma is_obsolete: true [Term] id: DOID:7675 name: testicular fibroma subset: NCIthesaurus xref: NCI:C39951 xref: UMLS_CUI:C1515282 is_a: DOID:0060087 ! male reproductive organ benign neoplasm [Term] id: DOID:7676 name: testicular thecoma subset: NCIthesaurus xref: NCI:C39952 xref: UMLS_CUI:C1515299 is_a: DOID:0060087 ! male reproductive organ benign neoplasm [Term] id: DOID:7677 name: obsolete bone metastatic Ewing's sarcoma is_obsolete: true [Term] id: DOID:7678 name: sphenoid sinus inverted papilloma subset: NCIthesaurus synonym: "Inverted papilloma of the Sphenoid sinus" EXACT [] xref: NCI:C6841 xref: UMLS_CUI:C1336037 is_a: DOID:2615 ! papilloma is_a: DOID:6947 ! sphenoidal sinus benign neoplasm [Term] id: DOID:7679 name: sphenoid sinus Schneiderian papilloma subset: NCIthesaurus synonym: "Schneiderian papilloma of the Sphenoid sinus" EXACT [] xref: NCI:C6838 xref: UMLS_CUI:C1336038 is_a: DOID:6947 ! sphenoidal sinus benign neoplasm [Term] id: DOID:768 name: retinoblastoma def: "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina." [url:http\://www.cancer.gov/cancertopics/types/retinoblastoma] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "neuroblastoma of Retina" EXACT [] synonym: "RB" EXACT OMO:0003012 [] synonym: "RB - Retinoblastoma" EXACT [] xref: GARD:7563 xref: ICDO:9510/3 xref: MESH:D012175 xref: MIM:180200 xref: NCI:C7541 xref: SNOMEDCT_US_2023_03_01:154553002 xref: UMLS_CUI:C0035335 is_a: DOID:771 ! retinal cell cancer [Term] id: DOID:7681 name: obsolete mixed choriocarcinoma and teratoma of the testis synonym: "mixed Choriocarcinoma and teratoma of testis" EXACT [] is_obsolete: true [Term] id: DOID:7683 name: obsolete dissecting aortic aneurysm is_obsolete: true [Term] id: DOID:7684 name: maxillary sinus adenocarcinoma subset: NCIthesaurus synonym: "adenocarcinoma of maxillary sinus" RELATED [] synonym: "adenocarcinoma of the maxillary sinus" EXACT [] xref: NCI:C6240 xref: SNOMEDCT_US_2023_03_01:1255110007 xref: UMLS_CUI:C1334642 is_a: DOID:1357 ! maxillary sinus cancer is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:7685 name: pancreatic non-invasive intraductal papillary-mucinous carcinoma subset: NCIthesaurus xref: NCI:C41251 xref: UMLS_CUI:C1518873 is_a: DOID:7574 ! pancreatic intraductal papillary-colloid carcinoma [Term] id: DOID:7689 name: leptomeninges sarcoma subset: NCIthesaurus synonym: "Leptomeningeal sarcoma" EXACT [] synonym: "sarcoma of Leptomeninges" EXACT [] xref: NCI:C8312 xref: SNOMEDCT_US_2023_03_01:78303004 xref: UMLS_CUI:C1384416 is_a: DOID:1115 ! sarcoma is_a: DOID:6086 ! malignant leptomeningeal neoplasm [Term] id: DOID:769 name: neuroblastoma def: "An autonomic nervous system neoplasm that derives_from immature nerve cells." [url:http\://www.cancer.gov/cancertopics/types/neuroblastoma] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: EFO:0000621 xref: GARD:7185 xref: ICDO:9500/3 xref: MESH:D009447 xref: NCI:C3270 xref: ORDO:635 xref: SNOMEDCT_US_2023_03_01:432328008 xref: UMLS_CUI:C0027819 is_a: DOID:2621 ! autonomic nervous system neoplasm [Term] id: DOID:7693 name: abdominal aortic aneurysm def: "An aortic aneurysm that is located_in the abdominal aorta." [url:http\://en.wikipedia.org/wiki/Aortic_aneurysm] subset: DO_rare_slim subset: NCIthesaurus synonym: "AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1" EXACT [] xref: EFO:0004214 xref: GARD:9181 xref: MESH:D017544 xref: MIM:100070 xref: MIM:609782 xref: MIM:611891 xref: MIM:614375 xref: NCI:C27000 xref: SNOMEDCT_US_2023_03_01:155422008 xref: UMLS_CUI:C0162871 is_a: DOID:3627 ! aortic aneurysm [Term] id: DOID:7694 name: bladder urachal adenocarcinoma subset: NCIthesaurus xref: NCI:C39843 xref: UMLS_CUI:C1511204 is_a: DOID:11817 ! urachus cancer is_a: DOID:3711 ! bladder adenocarcinoma [Term] id: DOID:7696 name: lung hilum cancer synonym: "malignant tumor of lung Hilum" EXACT [] synonym: "primary malignant neoplasm of hilus of lung" EXACT [] xref: SNOMEDCT_US_2023_03_01:93827000 xref: UMLS_CUI:C0346601 is_a: DOID:1324 ! lung cancer [Term] id: DOID:7697 name: pancreatic ACTH hormone producing tumor subset: NCIthesaurus synonym: "pancreatic ACTH hormone producing tumour" EXACT [] synonym: "pancreatic Adrenocorticotropic Hormone Producing tumor" EXACT [] synonym: "pancreatic Adrenocorticotropic Hormone Producing tumour" EXACT [] xref: NCI:C27466 xref: UMLS_CUI:C1335300 is_a: DOID:1799 ! islet cell tumor [Term] id: DOID:7698 name: non-functioning pancreatic endocrine tumor subset: NCIthesaurus xref: MESH:C536126 xref: NCI:C45837 xref: SNOMEDCT_US_2023_03_01:703816006 xref: UMLS_CUI:C1334977 is_a: DOID:1799 ! islet cell tumor [Term] id: DOID:77 name: gastrointestinal system disease alt_id: DOID:27 alt_id: DOID:944 def: "A disease of anatomical entity that is located_in the gastrointestinal tract." [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract] subset: DO_AGR_slim subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim synonym: "alimentary system disease" EXACT [] synonym: "digestive system disorder" EXACT [] synonym: "Gastroenteropathy" EXACT [] synonym: "gastrointestinal disease" EXACT [] synonym: "gastrointestinal disorder" EXACT [] synonym: "GIT disease" EXACT [] xref: ICD10CM:K92.9 xref: ICD9CM:520-579.99 xref: MESH:D004066 xref: SNOMEDCT_US_2023_03_01:53619000 xref: UMLS_CUI:C0012242 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:7702 name: obsolete AIDS-related oropharyngeal candidiasis def: "An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients." [url:http\://en.wikipedia.org/wiki/Candidiasis] is_obsolete: true [Term] id: DOID:7704 name: obsolete human papilloma virus related endocervical adenocarcinoma def: "A human papillomavirus related adenocarcinoma that results_in infection, located_in endocervix, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers." [url:http\://jnci.oxfordjournals.org/content/98/5/303.full.pdf+html, url:https\://www.ncbi.nlm.nih.gov/pubmed/18813124] synonym: "HPV-Related Endocervical adenocarcinoma" EXACT [] is_obsolete: true [Term] id: DOID:7706 name: obsolete Cytomegalovirus esophagitis def: "A Cytomegalovirus infectious disease that results_in infection located_in esophagus, has_material_basis_in Human herpesvirus 5 and has_symptom odynophagia, has_symptom nausea and vomiting, has_symptom fever, has_symptom diarrhea, and has_symptom hemoptysis." [url:http\://emedicine.medscape.com/article/173272-overview] synonym: "CMV esophagitis" EXACT [] is_obsolete: true [Term] id: DOID:7707 name: rectum signet ring adenocarcinoma subset: NCIthesaurus synonym: "Signet Ring cell adenocarcinoma of rectum" EXACT [] xref: NCI:C9168 xref: UMLS_CUI:C0279654 is_a: DOID:1996 ! rectum adenocarcinoma [Term] id: DOID:7708 name: perianal skin Paget's disease subset: NCIthesaurus synonym: "perianal skin Paget disease" EXACT [] xref: NCI:C7476 xref: UMLS_CUI:C1332270 is_a: DOID:4284 ! anal margin carcinoma [Term] id: DOID:771 name: retinal cell cancer def: "A malignant neoplasm that derives_from the retina." [url:http\://www.wrongdiagnosis.com/medical/retinal_cancer.htm] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C7061 xref: UMLS_CUI:C1335765 is_a: DOID:4645 ! retinal cancer [Term] id: DOID:7710 name: obsolete metastatic extraskeletal chondrosarcoma synonym: "metastatic extraosseous chondrosarcoma" EXACT [] is_obsolete: true [Term] id: DOID:7712 name: obsolete recurrent adult soft tissue sarcoma def: "An adult sarcoma of soft tissue that derives_form the soft tissues of the body." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/adult-soft-tissue-sarcoma/Patient] synonym: "relapsed adult sarcoma of the soft tissue" EXACT [] is_obsolete: true [Term] id: DOID:7713 name: tuberculum sellae meningioma subset: NCIthesaurus synonym: "meningioma of the Tuberculum Sellae" EXACT [] xref: NCI:C5284 xref: UMLS_CUI:C1336829 is_a: DOID:3643 ! sella turcica neoplasm [Term] id: DOID:7714 name: obsolete metastatic malignant hemangiopericytoma is_obsolete: true [Term] id: DOID:7716 name: mixed ductal-endocrine carcinoma xref: SNOMEDCT_US_2023_03_01:999000 xref: UMLS_CUI:C1301048 is_a: DOID:3498 ! pancreatic ductal adenocarcinoma [Term] id: DOID:7717 name: colloid carcinoma of the pancreas subset: NCIthesaurus xref: NCI:C37214 xref: UMLS_CUI:C1333081 is_a: DOID:4905 ! pancreatic carcinoma [Term] id: DOID:7718 name: osteoclast-like giant cell neoplasm of the pancreas synonym: "Osteoclast-like Giant cell neoplasm of pancreas" EXACT [] is_a: DOID:3498 ! pancreatic ductal adenocarcinoma [Term] id: DOID:772 name: obsolete metastasis to the retina synonym: "metastatic tumor to the Retina" EXACT [] is_obsolete: true [Term] id: DOID:7724 name: obsolete generalized convulsive epilepsy alt_id: DOID:13426 synonym: "Generalized convulsive epilepsy, with intractable epilepsy" EXACT [] is_obsolete: true [Term] id: DOID:7725 name: epilepsy with generalized tonic-clonic seizures def: "An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28276060, url:https\://www.ncbi.nlm.nih.gov/pubmed/28842445] comment: JA:Epilepsy Genetics Kiel subset: NCIthesaurus synonym: "Epileptic seizures, tonic-clonic" EXACT [] synonym: "Grand Mal epilepsy" EXACT [] synonym: "tonic-clonic epilepsy" EXACT [] xref: MESH:D004830 xref: NCI:C3022 xref: SNOMEDCT_US_2023_03_01:352818000 xref: UMLS_CUI:C0014549 is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome [Term] id: DOID:7728 name: obsolete chronic allograft arteriopathy is_obsolete: true [Term] id: DOID:7729 name: acinar cell cystadenocarcinoma subset: NCIthesaurus synonym: "pancreatic acinar cell cystadenocarcinoma" EXACT [] xref: ICDO:8551/3 xref: NCI:C5727 xref: SNOMEDCT_US_2023_03_01:128703004 xref: UMLS_CUI:C1266087 is_a: DOID:3111 ! cystadenocarcinoma [Term] id: DOID:773 name: obsolete metastasis to eye synonym: "metastatic tumor to the eye" EXACT [] synonym: "secondary malignant neoplasm of eye (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:7731 name: childhood malignant hemangiopericytoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "malignant pediatric hemangiopericytoma" EXACT [] xref: NCI:C8090 xref: UMLS_CUI:C0279983 is_a: DOID:264 ! hemangiopericytoma [Term] id: DOID:7732 name: childhood malignant schwannoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric MPNST" EXACT [] xref: NCI:C8094 xref: UMLS_CUI:C0279987 is_a: DOID:5940 ! malignant peripheral nerve sheath tumor [Term] id: DOID:7733 name: signet ring cell intrahepatic cholangiocarcinoma subset: NCIthesaurus xref: NCI:C41619 xref: UMLS_CUI:C1519321 is_a: DOID:4928 ! intrahepatic cholangiocarcinoma [Term] id: DOID:7735 name: pancreatic colloid cystadenoma subset: NCIthesaurus synonym: "mucinous Cystadenoma of pancreas" EXACT [] xref: NCI:C5718 xref: SNOMEDCT_US_2023_03_01:690751000119102 xref: UMLS_CUI:C1335309 is_a: DOID:3918 ! pancreatic cystadenoma [Term] id: DOID:7736 name: retinal telangiectasia xref: ICD9CM:362.15 xref: SNOMEDCT_US_2023_03_01:84884003 xref: UMLS_CUI:C0154835 is_a: DOID:2462 ! retinal vascular disease [Term] id: DOID:7739 name: obsolete human papilloma virus related penile squamous cell carcinoma alt_id: DOID:7740 def: "A human papillomavirus related squamous cell carcinoma that results_in infection located_in penis, has_material_basis_in human papillomavirus (types 16 and 18), which cause malignant tumors in squamous epithelium of the penis." [url:http\://jco.ascopubs.org/content/25/29/4550.full.pdf+html] synonym: "Condylomatous carcinoma of penis" EXACT [] synonym: "HPV-Related Penile squamous cell carcinoma" EXACT [] synonym: "penis warty carcinoma" EXACT [] synonym: "warty carcinoma of penis" RELATED [] is_obsolete: true [Term] id: DOID:774 name: retina lymphoma subset: NCIthesaurus synonym: "Lymphoma of retina" EXACT [] synonym: "Retinal Lymphoma" EXACT [] xref: NCI:C4365 xref: SNOMEDCT_US_2023_03_01:232075002 xref: UMLS_CUI:C0339556 is_a: DOID:0060058 ! lymphoma is_a: DOID:4645 ! retinal cancer [Term] id: DOID:7747 name: childhood extraocular retinoblastoma def: "An extraocular retinoblastoma that effects children." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric extraocular retinoblastoma" EXACT [] xref: NCI:C9048 xref: UMLS_CUI:C1321870 is_a: DOID:4656 ! extraocular retinoblastoma [Term] id: DOID:775 name: intraocular lymphoma alt_id: DOID:7746 subset: NCIthesaurus synonym: "primary intraocular lymphoma" EXACT [] xref: MESH:D064090 xref: NCI:C9184 xref: UMLS_CUI:C0281658 is_a: DOID:6903 ! eye lymphoma [Term] id: DOID:7750 name: adult brain ependymoma def: "A brain ependymoma that is characterized by tumor in the ependyma of adults located_in spine, located_in intracranial (4th ventricle) and has_material_basis_in abnormally proliferating cells derives_from ependymal cells." [url:https\://en.wikipedia.org/wiki/Ependyma, url:https\://en.wikipedia.org/wiki/Ependymoma] subset: NCIthesaurus xref: NCI:C9372 xref: UMLS_CUI:C1332186 is_a: DOID:7497 ! brain ependymoma [Term] id: DOID:7752 name: extrahepatic biliary papillomatosis def: "A biliary papillomatosis located_in an extrahepatic bile duct." [url:https\://pubmed.ncbi.nlm.nih.gov/21988050/] subset: NCIthesaurus xref: NCI:C7124 xref: UMLS_CUI:C1333511 is_a: DOID:5468 ! biliary papillomatosis [Term] id: DOID:7753 name: obsolete recurrent cancer of testis synonym: "relapsed testicular carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:7754 name: obsolete Chondroid hamartoma of lung synonym: "pulmonary Chondroid hamartoma" EXACT [] is_obsolete: true [Term] id: DOID:7756 name: neonatal leukemia def: "A childhood leukemia that occurs during the neonatal period." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3845] subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: NCI:C3845 xref: UMLS_CUI:C0235813 is_a: DOID:7757 ! childhood leukemia [Term] id: DOID:7757 name: childhood leukemia def: "A leukemia that occurs in children." [url:http\://www.nlm.nih.gov/medlineplus/leukemiachildhood.html] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: DO_RAD_slim subset: NCIthesaurus xref: NCI:C4989 xref: UMLS_CUI:C1332977 is_a: DOID:1240 ! leukemia [Term] id: DOID:7762 name: childhood multilocular cystic kidney neoplasm def: "A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma." [url:http\://radiographics.rsna.org/content/15/3/653.abstract] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "benign Multilocular cystic renal tumor" RELATED [] synonym: "childhood renal Wilms cancer" EXACT [] synonym: "pediatric Multilocular cystic renal tumor" EXACT [] xref: NCI:C6566 xref: UMLS_CUI:C1332983 is_a: DOID:3116 ! kidney benign neoplasm [Term] id: DOID:7763 name: carcinoma of supraglottis subset: NCIthesaurus synonym: "Supraglottic carcinoma" EXACT [] xref: NCI:C5973 xref: SNOMEDCT_US_2023_03_01:372105009 xref: UMLS_CUI:C1299240 is_a: DOID:13476 ! supraglottis cancer [Term] id: DOID:7764 name: subglottis carcinoma subset: NCIthesaurus synonym: "carcinoma of subglottis" EXACT [] synonym: "Subglottic carcinoma" EXACT [] xref: NCI:C5972 xref: SNOMEDCT_US_2023_03_01:372104008 xref: UMLS_CUI:C1299239 is_a: DOID:11472 ! subglottis cancer [Term] id: DOID:7765 name: Coats disease comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Coats' disease" EXACT [] synonym: "Coats' syndrome" EXACT [] synonym: "Exudative retinopathy" EXACT [] xref: GARD:6121 xref: ICD10CM:H35.02 xref: ICD9CM:362.12 xref: MESH:D058456 xref: MIM:300216 xref: SNOMEDCT_US_2023_03_01:193359003 xref: UMLS_CUI:C0154832 is_a: DOID:7736 ! retinal telangiectasia [Term] id: DOID:778 name: delusional disorder def: "A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect." [url:http\://en.wikipedia.org/wiki/Delusional_disorder] subset: NCIthesaurus xref: ICD10CM:F22 xref: ICD9CM:297.1 xref: MESH:D012563 xref: NCI:C94379 xref: SNOMEDCT_US_2023_03_01:48500005 xref: UMLS_CUI:C0011251 is_a: DOID:2468 ! psychotic disorder [Term] id: DOID:7786 name: obsolete mixed choriocarcinoma and embryonal carcinoma of the testis synonym: "mixed Choriocarcinoma and Embryonal carcinoma of testis" EXACT [] is_obsolete: true [Term] id: DOID:7787 name: breast osteosarcoma def: "A breast sarcoma that arises from bone." [url:https\://en.wikipedia.org/wiki/Osteosarcoma] subset: NCIthesaurus synonym: "Osteogenic sarcoma of breast" EXACT [] xref: NCI:C5189 xref: UMLS_CUI:C1335149 is_a: DOID:3017 ! breast sarcoma [Term] id: DOID:7788 name: adult spinal cord ependymoma subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C27399 xref: UMLS_CUI:C1332215 is_a: DOID:5503 ! spinal cord ependymoma [Term] id: DOID:7793 name: obsolete recurrent uterine sarcoma def: "A uterine Corpus sarcoma that has recurred after it has been treated." [url:http\://my.clevelandclinic.org/disorders/uterine_sarcoma/hic_uterine_sarcoma.aspx, url:http\://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient] synonym: "relapsed sarcoma of Uterus" EXACT [] is_obsolete: true [Term] id: DOID:7799 name: obsolete transitional cell carcinoma of the ureter with glandular differentiation synonym: "ureteral transitional cell carcinoma with glandular differentiation" EXACT [] is_obsolete: true [Term] id: DOID:780 name: placenta disease alt_id: DOID:1815 alt_id: DOID:5366 alt_id: DOID:9219 def: "A uterine disease that is located_in the placenta." [url:http\://en.wikipedia.org/wiki/Placenta_disease] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7402 xref: ICD10CM:O43 xref: ICD9CM:646.9 xref: MESH:D010922 xref: MESH:D011248 xref: NCI:C26857 xref: NCI:C27619 xref: NCI:C34941 xref: NCI:C35169 xref: SNOMEDCT_US_2023_03_01:125586008 xref: SNOMEDCT_US_2023_03_01:172422001 xref: SNOMEDCT_US_2023_03_01:198881004 xref: UMLS_CUI:C0032045 xref: UMLS_CUI:C0032962 xref: UMLS_CUI:C0151864 xref: UMLS_CUI:C1335423 is_a: DOID:345 ! uterine disease [Term] id: DOID:7801 name: obsolete plasmacytoma-like PTLD is_obsolete: true [Term] id: DOID:7805 name: obsolete nonmetastatic extraskeletal osteosarcoma synonym: "Non-metastatic extraskeletal Osteogenic sarcoma" EXACT [] is_obsolete: true [Term] id: DOID:7806 name: adult spinal cord glioblastoma multiforme subset: NCIthesaurus synonym: "adult Spinal Cord Glioblastoma" EXACT [] synonym: "Glioblastoma multiforme of spinal cord" EXACT [] xref: NCI:C27183 xref: SNOMEDCT_US_2023_03_01:276829003 xref: UMLS_CUI:C0559185 is_a: DOID:3185 ! spinal cord glioma [Term] id: DOID:7807 name: choroid necrotic melanoma subset: NCIthesaurus synonym: "necrotic Choroid melanoma" EXACT [] xref: NCI:C6865 xref: UMLS_CUI:C1333026 is_a: DOID:12759 ! choroid cancer is_a: DOID:7808 ! necrotic uveal melanoma [Term] id: DOID:7808 name: necrotic uveal melanoma def: "An uveal melanoma characterized by the presence of tumor cell necrosis." [url:https\://www.nature.com/articles/eye2016275] subset: NCIthesaurus xref: NCI:C7990 xref: UMLS_CUI:C0279695 is_a: DOID:6039 ! uveal melanoma [Term] id: DOID:7809 name: obsolete anaplastic giant cell thyroid carcinoma synonym: "Undifferentiated Giant cell carcinoma of the Thyroid gland" EXACT [] is_obsolete: true [Term] id: DOID:7810 name: obsolete AIDS-related Cytomegalovirus enterocolitis def: "An intestinal infectious disease and is_a Cytomegalovirus infectious disease that is complicated_by acquired immunodeficiency syndrome which results_in inflammation located_in colon and located_in small intestine, has_material_basis_in Cytomegalovirus in AIDS patients." [url:http\://books.google.com/books?id=chs_lilPFLwC&pg=PA173&lpg#v=onepage&q&f=false] synonym: "AIDS-related enterocolitis" RELATED [] is_obsolete: true [Term] id: DOID:7812 name: obsolete Enterovirus gastroenteritis alt_id: DOID:7854 def: "An Enterovirus infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human echovirus 11, which is transmitted_by contaminated drinking water. The infection has_symptom diarrhea." [url:http\://www.springerlink.com/content/p0255l7r3217771k/fulltext.pdf, url:https\://www.ncbi.nlm.nih.gov/pubmed/17033423] is_obsolete: true [Term] id: DOID:7814 name: obsolete Cytomegalovirus colitis def: "A Cytomegalovirus infectious disease that results_in infection, located_in colon, has_material_basis_in Human herpesvirus 5, which results_in_formation_of ulcer, has_symptom watery or bloody diarrhea, has_symptom abdominal pain, has_symptom fever, and has_symptom weight loss." [url:http\://emedicine.medscape.com/article/173151-overview, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000667.htm] synonym: "CMV colitis" EXACT [] is_obsolete: true [Term] id: DOID:7815 name: obsolete recurrent malignant thymoma synonym: "Thymoma malignant recurrent" EXACT [] is_obsolete: true [Term] id: DOID:7817 name: mixed astrocytoma-ependymoma-oligodendroglioma subset: NCIthesaurus xref: NCI:C8272 xref: UMLS_CUI:C0280792 is_a: DOID:5076 ! mixed glioma [Term] id: DOID:7818 name: petroclival meningioma subset: NCIthesaurus xref: NCI:C5278 xref: UMLS_CUI:C1335395 is_a: DOID:4437 ! skull base meningioma [Term] id: DOID:7819 name: sphenoorbital meningioma subset: NCIthesaurus xref: NCI:C5285 xref: UMLS_CUI:C1336040 is_a: DOID:4437 ! skull base meningioma [Term] id: DOID:782 name: renal infectious disease xref: ICD10CM:N15.9 xref: ICD9CM:590 xref: SNOMEDCT_US_2023_03_01:266618004 xref: UMLS_CUI:C0021313 is_a: DOID:557 ! kidney disease [Term] id: DOID:7820 name: sphenocavernous meningioma subset: NCIthesaurus xref: NCI:C5313 xref: UMLS_CUI:C1336036 is_a: DOID:4437 ! skull base meningioma [Term] id: DOID:7824 name: spinal multifocal clear cell meningioma subset: NCIthesaurus synonym: "Multifocal Clear cell meningioma of Spine" EXACT [] xref: NCI:C5287 xref: UMLS_CUI:C1336051 is_a: DOID:1140 ! spinal canal and spinal cord meningioma [Term] id: DOID:7825 name: chronic toxic polyneuropathy subset: NCIthesaurus xref: NCI:C35603 xref: UMLS_CUI:C1333048 is_a: DOID:5221 ! chronic polyneuropathy [Term] id: DOID:7826 name: adult papillary meningioma subset: NCIthesaurus xref: NCI:C8293 xref: UMLS_CUI:C0281334 is_a: DOID:5058 ! rhabdoid meningioma [Term] id: DOID:7827 name: adult extraosseous osteosarcoma def: "An extraosseous osteosarcoma that is located_in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material." [url:https\://pubmed.ncbi.nlm.nih.gov/11786582/] subset: NCIthesaurus xref: NCI:C7925 xref: UMLS_CUI:C0278985 is_a: DOID:3357 ! extraosseous osteosarcoma [Term] id: DOID:783 name: end stage renal disease def: "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease." [url:https\://www.ncbi.nlm.nih.gov/books/NBK499861/] synonym: "end stage renal failure" EXACT [] synonym: "end-stage kidney disease" EXACT [] xref: ICD9CM:585.6 is_a: DOID:784 ! chronic kidney disease [Term] id: DOID:7833 name: obsolete cervical papillary squamous cell carcinoma def: "A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillae in squamous epithelium of cervix." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/13678741] is_obsolete: true [Term] id: DOID:7834 name: obsolete human papilloma virus related cervical squamous cell carcinoma alt_id: DOID:6371 def: "A human papillomavirus related squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of cervix." [url:http\://clincancerres.aacrjournals.org/content/13/23/7067.full.pdf+html] synonym: "HPV-Related cervical carcinoma" EXACT [] synonym: "HPV-Related cervical squamous cell carcinoma" EXACT [] synonym: "human papilloma virus related cervical carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:7836 name: obsolete mixed acinar-endocrine carcinoma synonym: "mixed acinar-endocrine carcinoma" EXACT [] synonym: "mixed acinar-endocrine carcinoma (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:7839 name: infiltrating nipple syringomatous adenoma def: "A nipple benign neoplasm that is characterized a as locally infiltrative nonmetastasizing tumor of the nipple." [url:https\://www.pathologyoutlines.com/topic/breastsyringomatousadenomanipple.html] subset: NCIthesaurus xref: NCI:C40363 xref: SNOMEDCT_US_2023_03_01:703552001 xref: UMLS_CUI:C3839745 is_a: DOID:3003 ! nipple benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:784 name: chronic kidney disease def: "A kidney failure that is characterized by the gradual loss of kidney function." [url:https\://www.mayoclinic.org/diseases-conditions/chronic-kidney-disease/symptoms-causes/syc-20354521, url:https\://www.ncbi.nlm.nih.gov/books/NBK499861/] subset: NCIthesaurus synonym: "chronic kidney failure" EXACT [] synonym: "chronic renal disease" EXACT [] synonym: "chronic renal failure syndrome" EXACT [] synonym: "CKD" EXACT OMO:0003012 [] synonym: "CRF" EXACT OMO:0003012 [] synonym: "renal failure - chronic" EXACT [] xref: ICD10CM:N18.9 xref: ICD9CM:585.6 xref: MESH:D007676 xref: NCI:C9438 xref: SNOMEDCT_US_2023_03_01:155856009 xref: UMLS_CUI:C0022661 is_a: DOID:1074 ! kidney failure [Term] id: DOID:7840 name: pancreatic non-functioning delta cell tumor subset: NCIthesaurus xref: NCI:C28333 xref: UMLS_CUI:C1335311 is_a: DOID:4433 ! pancreatic delta cell neoplasm is_a: DOID:7698 ! non-functioning pancreatic endocrine tumor [Term] id: DOID:7841 name: childhood embryonal tumor with multilayered rosettes, C19MC-altered def: "An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C115203] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood cerebral ependymoblastoma" EXACT [] synonym: "pediatric cerebral ependymoblastoma" EXACT [] xref: NCI:C115203 is_a: DOID:0080903 ! embryonal tumor with multilayered rosettes, C19MC-altered [Term] id: DOID:7843 name: female breast carcinoma def: "A breast carcinoma that is manifested in the female breast." [url:http\://en.wikipedia.org/wiki/Breast_cancer] subset: NCIthesaurus synonym: "carcinoma of female breast" RELATED [] synonym: "Mammary carcinoma of female breast" EXACT [] xref: NCI:C2918 xref: UMLS_CUI:C0007104 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:7847 name: obsolete vascular hemorrhagic disorder is_obsolete: true [Term] id: DOID:7848 name: interdigitating dendritic cell sarcoma def: "A histiocytic and dendritic cell cancer that effect dendritic cells." [url:http\://en.wikipedia.org/wiki/Interdigitating_dendritic_cell_sarcoma] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Interdigitating cell sarcoma" EXACT [] xref: ICD10CM:C96.4 xref: ICDO:9757/3 xref: MESH:D054739 xref: NCI:C9282 xref: SNOMEDCT_US_2023_03_01:715664005 xref: UMLS_CUI:C1260326 is_a: DOID:5621 ! histiocytic and dendritic cell cancer [Term] id: DOID:7849 name: dendritic cell sarcoma def: "A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes." [url:http\://findarticles.com/p/articles/mi_m0BUM/is_12_83/ai_n8704912/] subset: NCIthesaurus synonym: "follicular dendritic cell sarcoma" RELATED [] xref: ICD10CM:C96.4 xref: NCI:C27260 xref: SNOMEDCT_US_2023_03_01:397355008 xref: UMLS_CUI:C1301364 is_a: DOID:1115 ! sarcoma is_a: DOID:5621 ! histiocytic and dendritic cell cancer [Term] id: DOID:7850 name: obsolete recurrent uvea melanoma synonym: "recurrent melanoma of Uvea" EXACT [] is_obsolete: true [Term] id: DOID:7851 name: pancreatic intraductal papillary-mucinous adenoma xref: SNOMEDCT_US_2023_03_01:473418001 xref: UMLS_CUI:C1518868 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:7855 name: obsolete recurrent ovarian germ cell neoplasm synonym: "relapsed germ cell tumor of Ovary" EXACT [] is_obsolete: true [Term] id: DOID:786 name: laryngeal disease subset: NCIthesaurus xref: ICD10CM:S12.8 xref: ICD9CM:478.70 xref: MESH:D007818 xref: NCI:C26810 xref: SNOMEDCT_US_2023_03_01:195863001 xref: UMLS_CUI:C0023051 is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:7867 name: adult central nervous system germinoma subset: NCIthesaurus synonym: "germinoma of the adult central nervous system" EXACT [] xref: NCI:C5792 xref: UMLS_CUI:C1370504 is_a: DOID:4438 ! central nervous system germinoma [Term] id: DOID:7868 name: maxillary sinus inverted papilloma subset: NCIthesaurus synonym: "Inverted papilloma of the maxillary sinus" EXACT [] xref: NCI:C6840 xref: UMLS_CUI:C1334645 is_a: DOID:1358 ! maxillary sinus benign neoplasm is_a: DOID:2615 ! papilloma [Term] id: DOID:7875 name: adult xanthogranuloma subset: NCIthesaurus xref: NCI:C27514 xref: UMLS_CUI:C1332220 is_a: DOID:4330 ! non-Langerhans-cell histiocytosis [Term] id: DOID:7878 name: uterine corpus atypical polypoid adenomyoma def: "An atypical polypoid adenomyoma that is located_in the uterine corpus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23590013] subset: NCIthesaurus xref: NCI:C40235 xref: UMLS_CUI:C1519844 is_a: DOID:4994 ! adenomyoma of uterine corpus [Term] id: DOID:7880 name: luteoma def: "An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641443/] subset: NCIthesaurus synonym: "leuteoma of pregnancy" EXACT [] synonym: "luteoma of pregnancy" EXACT [] xref: ICDO:8610/0 xref: NCI:C40445 xref: UMLS_CUI:C1517842 is_a: DOID:0060112 ! ovarian benign neoplasm [Term] id: DOID:789 name: obsolete hypotony of eye associated with another ocular disorder is_obsolete: true [Term] id: DOID:7890 name: obsolete testicular spermatocytic seminoma with sarcoma is_obsolete: true [Term] id: DOID:7891 name: testicular spermatocytic seminoma is_a: DOID:5834 ! spermatocytoma is_a: DOID:5842 ! testis seminoma [Term] id: DOID:7892 name: obsolete breast adenohibernoma is_obsolete: true [Term] id: DOID:7894 name: mite infestation def: "A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae." [url:http\://en.wikipedia.org/wiki/Mite] subset: DO_infectious_disease_slim xref: ICD10CM:B88.9 xref: ICD9CM:133 xref: MESH:D008924 xref: SNOMEDCT_US_2023_03_01:78166003 xref: UMLS_CUI:C0026229 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease [Term] id: DOID:790 name: ocular hypotension subset: NCIthesaurus synonym: "Hypotony of eye" EXACT [] xref: ICD10CM:H44.4 xref: ICD9CM:360.3 xref: MESH:D015814 xref: NCI:C172147 xref: SNOMEDCT_US_2023_03_01:23670006 xref: UMLS_CUI:C0028841 is_a: DOID:5614 ! eye disease [Term] id: DOID:7902 name: adult extraskeletal myxoid chondrosarcoma alt_id: DOID:6495 def: "An extraskeletal myxoid chondrosarcoma occurring in adults." [url:https\://pubmed.ncbi.nlm.nih.gov/35144048/] comment: adult myxoid chondrosarcoma Retired NCI concept. subset: NCIthesaurus synonym: "adult extraosseous chondrosarcoma" EXACT [] synonym: "adult myxoid chondrosarcoma" EXACT [] xref: NCI:C7924 xref: UMLS_CUI:C1706731 is_a: DOID:4549 ! extraskeletal myxoid chondrosarcoma [Term] id: DOID:7903 name: intracranial chondrosarcoma subset: NCIthesaurus xref: NCI:C5462 xref: UMLS_CUI:C1334238 is_a: DOID:4549 ! extraskeletal myxoid chondrosarcoma [Term] id: DOID:7907 name: mixed astrocytoma-ependymoma subset: NCIthesaurus xref: NCI:C8271 xref: UMLS_CUI:C0280791 is_a: DOID:5076 ! mixed glioma [Term] id: DOID:791 name: obsolete disorganized schizophrenia in remission synonym: "Disorganized schizophrenia in remission (disorder)" EXACT [] synonym: "Disorganized type schizophrenia, in remission" EXACT [] is_obsolete: true [Term] id: DOID:7910 name: maxillary sinus squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the maxillary sinus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25674251] subset: NCIthesaurus synonym: "Epidermoid carcinoma of the Maxillofacial sinus" EXACT [] xref: NCI:C6064 xref: SNOMEDCT_US_2023_03_01:1260080001 xref: UMLS_CUI:C1334647 is_a: DOID:1357 ! maxillary sinus cancer is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:7912 name: mixed oligodendroglioma-astrocytoma subset: NCIthesaurus synonym: "WHO grade II mixed glioma" EXACT [] xref: MESH:D009837 xref: NCI:C4050 xref: SNOMEDCT_US_2023_03_01:22217002 xref: UMLS_CUI:C0280793 is_a: DOID:5076 ! mixed glioma [Term] id: DOID:7915 name: cervical spinal canal and spinal cord meningioma subset: NCIthesaurus synonym: "meningioma of the cervical Spinal canal and Spinal Cord" EXACT [] xref: NCI:C5296 xref: UMLS_CUI:C1332916 is_a: DOID:1140 ! spinal canal and spinal cord meningioma [Term] id: DOID:7919 name: obsolete nonmetastatic extra-osseous ewing's sarcoma is_obsolete: true [Term] id: DOID:792 name: obsolete disorganized schizophrenia is_obsolete: true [Term] id: DOID:7920 name: obsolete central nervous system benign soft tissue neoplasm synonym: "benign soft tissue tumor of CNS" EXACT [] is_obsolete: true [Term] id: DOID:7921 name: mediastinal psammomatous neurilemmoma def: "A mediastinal neurilemmoma characterized by the presence of psammoma bodies." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6636] subset: NCIthesaurus synonym: "benign mediastinal psammomatous neurilemmoma" EXACT [] synonym: "benign Psammomatous Schwannoma of mediastinum" EXACT [] xref: NCI:C6636 xref: UMLS_CUI:C1332513 is_a: DOID:6175 ! mediastinal neurilemmoma [Term] id: DOID:7922 name: obsolete benign mediastinal neurilemmoma comment: Duplicate disease (NCI). subset: NCIthesaurus synonym: "benign Schwannoma of mediastinum" EXACT [] xref: NCI:C6625 is_obsolete: true replaced_by: DOID:6175 [Term] id: DOID:7926 name: epithelial malignant thymoma subset: NCIthesaurus synonym: "Squamoid Thymoma" EXACT [] synonym: "Thymoma, epithelial" EXACT [] synonym: "Well differentiated thymic carcinoma" EXACT [] xref: NCI:C7997 xref: SNOMEDCT_US_2023_03_01:128716004 xref: UMLS_CUI:C0279705 is_a: DOID:3282 ! thymoma type B [Term] id: DOID:7927 name: malignant type A thymoma subset: NCIthesaurus synonym: "Thymoma, medullary, malignant" EXACT [] xref: NCI:C7999 xref: SNOMEDCT_US_2023_03_01:128708008 xref: UMLS_CUI:C0279707 is_a: DOID:3279 ! spindle cell thymoma [Term] id: DOID:7928 name: testis refractory cancer subset: NCIthesaurus synonym: "Refractory testicular carcinoma" EXACT [] xref: NCI:C9077 xref: UMLS_CUI:C1377904 is_a: DOID:5556 ! testicular malignant germ cell cancer [Term] id: DOID:793 name: obsolete schizophrenia in remission synonym: "Schizophrenia in remission (disorder)" EXACT [] synonym: "Unspecified schizophrenia, in remission" EXACT [] is_obsolete: true [Term] id: DOID:7930 name: glandular-alveolar pattern testicular yolk sac tumor subset: NCIthesaurus xref: NCI:C39926 xref: UMLS_CUI:C1515305 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:7931 name: obsolete old burn scar-related squamous cell carcinoma of skin synonym: "Old Burn Scar-Related squamous cell carcinoma of the skin" EXACT [] is_obsolete: true [Term] id: DOID:7933 name: obsolete childhood precursor T-lymphoblastic lymphoma/leukemia is_obsolete: true [Term] id: DOID:7936 name: refractory T lymphoblastic leukemia/lymphoma subset: NCIthesaurus synonym: "precursor T-lymphoblastic lymphoma/leukemia refractory" EXACT [] xref: NCI:C8696 xref: UMLS_CUI:C0854859 is_a: DOID:712 ! refractory hematologic cancer [Term] id: DOID:7938 name: obsolete dyschondroplasia synonym: "Dyschondroplasia" EXACT [] synonym: "Dyschondroplasia (disorder)" EXACT [] synonym: "Dyschondroplasia NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:794 name: obsolete residual schizophrenia in remission synonym: "Residual schizophrenia in remission (disorder)" EXACT [] synonym: "Residual schizophrenia, in remission" EXACT [] is_obsolete: true [Term] id: DOID:7941 name: Barrett's adenocarcinoma subset: DO_cancer_slim subset: NCIthesaurus synonym: "adenocarcinoma Arising in Barrett's Mucosa" EXACT [] synonym: "Barrett adenocarcinoma" EXACT [] xref: NCI:C7027 xref: UMLS_CUI:C1332460 is_a: DOID:4914 ! esophagus adenocarcinoma [Term] id: DOID:7945 name: adult central nervous system mixed germ cell tumor def: "A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells." [url:https\://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq] subset: NCIthesaurus xref: NCI:C27402 xref: UMLS_CUI:C1332195 is_a: DOID:5349 ! central nervous system adult germ cell tumor [Term] id: DOID:7946 name: obsolete recurrent cancer of colon synonym: "recurrent colon carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:7949 name: stroma-dominant and stroma-poor composite ganglioneuroblastoma subset: NCIthesaurus xref: NCI:C42060 xref: UMLS_CUI:C1516761 is_a: DOID:5193 ! nodular ganglioneuroblastoma [Term] id: DOID:795 name: obsolete residual type schizophrenia synonym: "Residual schizophrenia" EXACT [] synonym: "Residual schizophrenia (disorder)" EXACT [] synonym: "Residual schizophrenia, unspecified state" EXACT [] synonym: "Residual type schizophrenic disorder" EXACT [] synonym: "Restzustand, schizophrenic" EXACT [] is_obsolete: true [Term] id: DOID:7951 name: Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma subset: NCIthesaurus xref: NCI:C42059 xref: UMLS_CUI:C1516760 is_a: DOID:5193 ! nodular ganglioneuroblastoma [Term] id: DOID:7953 name: nipple duct carcinoma def: "A nipple carcinoma that is located_in the nipple duct." [url:http\://www.cancer.gov/dictionary?CdrID=45963] subset: DO_cancer_slim subset: NCIthesaurus xref: NCI:C27234 xref: UMLS_CUI:C1334967 is_a: DOID:6629 ! nipple carcinoma [Term] id: DOID:7956 name: obsolete EBV-related posttransplantation lymphoproliferative disease alt_id: DOID:7828 def: "An Epstein-Barr virus related lymphoma and is_a posttransplantation lymphoproliferative disorder that derives_from lymphocytes after organ transplant, has_material_basis_in Human herpesvirus 4." [url:http\://lymphoma.about.com/od/riskfactors/qt/ebvlymphoma.htm] synonym: "EBV Related Clonal PTLD" EXACT [] synonym: "EBV-related PTLD" EXACT [] synonym: "Epstein-Barr virus related posttransplantation lymphoproliferative disorder" EXACT [] is_obsolete: true [Term] id: DOID:7958 name: sarcomatoid penile squamous cell carcinoma subset: NCIthesaurus synonym: "sarcomatous carcinoma of the penis" EXACT [] xref: NCI:C6984 xref: UMLS_CUI:C1335923 is_a: DOID:5518 ! penis squamous cell carcinoma [Term] id: DOID:7959 name: duodenal gastrinoma subset: NCIthesaurus synonym: "duodenal G-cell gastrin producing tumor" EXACT [] synonym: "Gastrinoma of duodenum" EXACT [] synonym: "malignant duodenal gastrinoma" EXACT [] xref: NCI:C5731 xref: SNOMEDCT_US_2023_03_01:879992009 xref: UMLS_CUI:C1333321 is_a: DOID:10021 ! duodenum cancer is_a: DOID:5577 ! gastrinoma [Term] id: DOID:7960 name: malignant spiradenoma subset: NCIthesaurus synonym: "malignant eccrine spiradenoma" EXACT [] xref: NCI:C5117 xref: SNOMEDCT_US_2023_03_01:403942003 xref: UMLS_CUI:C1266063 is_a: DOID:4921 ! eccrine sweat gland cancer [Term] id: DOID:7961 name: cervical non-keratinizing squamous cell carcinoma def: "A cervical squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3702072/] subset: NCIthesaurus xref: NCI:C40188 xref: UMLS_CUI:C1518366 is_a: DOID:3744 ! cervical squamous cell carcinoma [Term] id: DOID:7962 name: tamoxifen-related endometrial lesion def: "An endometrial disease that is caused by tamoxifen exposure." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC494940/] subset: NCIthesaurus xref: NCI:C40159 xref: UMLS_CUI:C1515212 is_a: DOID:1005 ! endometrial disease [Term] id: DOID:7966 name: obsolete type 3 ALPS is_obsolete: true [Term] id: DOID:7967 name: lipid-cell variant infiltrating bladder urothelial carcinoma subset: NCIthesaurus xref: NCI:C39828 xref: UMLS_CUI:C1512738 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma [Term] id: DOID:7968 name: plasmacytoid variant infiltrating bladder urothelial carcinoma subset: NCIthesaurus xref: NCI:C39823 xref: UMLS_CUI:C1512742 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma [Term] id: DOID:7969 name: nested variant infiltrating bladder urothelial carcinoma subset: NCIthesaurus xref: NCI:C39819 xref: UMLS_CUI:C1512741 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma [Term] id: DOID:7971 name: microcystic variant infiltrating bladder urothelial carcinoma subset: NCIthesaurus xref: NCI:C39820 xref: UMLS_CUI:C1512740 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma [Term] id: DOID:7972 name: lymphoma-like variant infiltrating bladder urothelial carcinoma subset: NCIthesaurus xref: NCI:C39822 xref: UMLS_CUI:C1512739 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma [Term] id: DOID:7979 name: obsolete helicobacter pylori-related gastric adenocarcinoma is_obsolete: true [Term] id: DOID:7983 name: breast malignant eccrine spiradenoma def: "A breast cancer that arises_from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, pleomorphism, and hyperchromasia, loss of nested and trabecular growth patterns, and absence of a dual cell population." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601958/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10770427] subset: NCIthesaurus synonym: "malignant Eccrine Spiradenoma of the breast" EXACT [] xref: NCI:C5180 xref: UMLS_CUI:C1334565 is_a: DOID:1612 ! breast cancer [Term] id: DOID:7984 name: sclerosing breast papilloma def: "A breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct." [url:http\://www.archivesofpathology.org/doi/full/10.5858/arpa.2015-0525-RA?code=coap-site#_i51, url:https\://www.ncbi.nlm.nih.gov/pubmed/25650849] subset: NCIthesaurus xref: NCI:C27944 xref: UMLS_CUI:C1335932 is_a: DOID:1626 ! breast duct papilloma [Term] id: DOID:7986 name: cerebral falx meningioma subset: NCIthesaurus synonym: "Falcine meningioma" EXACT [] xref: NCI:C5267 xref: UMLS_CUI:C1333597 is_a: DOID:4436 ! anterior cranial fossa meningioma [Term] id: DOID:799 name: varicose veins def: "A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin." [url:http\://www.nlm.nih.gov/medlineplus/varicoseveins.html, url:https\://www.nhlbi.nih.gov/health/health-topics/topics/vv/] subset: NCIthesaurus synonym: "varices" EXACT [] synonym: "Varix" EXACT [] synonym: "Venous ectasia" EXACT [] synonym: "Venous varices" EXACT [] xref: ICD10CM:I83.90 xref: MESH:D014648 xref: MIM:192200 xref: NCI:C35114 xref: SNOMEDCT_US_2023_03_01:276504003 xref: UMLS_CUI:C0042345 is_a: DOID:866 ! vein disease [Term] id: DOID:7994 name: central nervous system osteosarcoma subset: NCIthesaurus xref: NCI:C7002 xref: UMLS_CUI:C1335150 is_a: DOID:502 ! central nervous system mesenchymal non-meningothelial tumor [Term] id: DOID:7996 name: familial glomangioma subset: NCIthesaurus xref: NCI:C5350 xref: UMLS_CUI:C1333987 is_a: DOID:2436 ! glomangioma [Term] id: DOID:7997 name: thyrotoxicosis def: "A thyroid gland disease that is characterized by excess thyroid hormone." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22394559] comment: OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus xref: ICD10CM:E05.9 xref: ICD9CM:242 xref: MESH:D013971 xref: NCI:C61469 xref: SNOMEDCT_US_2023_03_01:154655004 xref: UMLS_CUI:C0040156 is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:7998 name: hyperthyroidism def: "A thyroid gland disease that involves an over production of thyroid hormone." [url:https\://www.niddk.nih.gov/health-information/endocrine-diseases/hyperthyroidism] comment: Xref MGI. subset: NCIthesaurus synonym: "overactive thyroid" EXACT [] xref: ICD10CM:E05.9 xref: MESH:D006980 xref: NCI:C113145 xref: NCI:C3123 xref: SNOMEDCT_US_2023_03_01:190239004 xref: UMLS_CUI:C0020550 xref: UMLS_CUI:C3714618 is_a: DOID:50 ! thyroid gland disease property_value: exactMatch "MESH:D006980" xsd:string [Term] id: DOID:8000 name: frontal convexity meningioma subset: NCIthesaurus xref: NCI:C5292 xref: UMLS_CUI:C1333643 is_a: DOID:6114 ! cerebral convexity meningioma [Term] id: DOID:8002 name: supraglottis neoplasm subset: NCIthesaurus synonym: "neoplasm of supraglottis" EXACT [] synonym: "Supraglottic tumor" EXACT [] xref: NCI:C6793 xref: SNOMEDCT_US_2023_03_01:126697005 xref: UMLS_CUI:C0345726 is_a: DOID:2598 ! laryngeal benign neoplasm [Term] id: DOID:8003 name: alveoli adenoma subset: NCIthesaurus synonym: "adenoma of alveoli" EXACT [] synonym: "adenoma of the alveoli" RELATED [] synonym: "Alveolar adenoma" EXACT [] xref: NCI:C4140 xref: SNOMEDCT_US_2023_03_01:8097004 xref: UMLS_CUI:C0334303 is_a: DOID:3906 ! bronchial benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:8004 name: obsolete ovarian dermoid cyst with prolactin secreting adenoma is_obsolete: true [Term] id: DOID:8005 name: obsolete ovarian dermoid cyst with secondary pituitary-type tumor is_obsolete: true [Term] id: DOID:8006 name: skin meningioma subset: NCIthesaurus synonym: "primary meningioma of the skin" EXACT [] xref: NCI:C5277 xref: UMLS_CUI:C1335481 is_a: DOID:3565 ! meningioma is_a: DOID:4159 ! skin cancer [Term] id: DOID:8007 name: Pancoast tumor alt_id: DOID:4485 alt_id: DOID:5762 subset: NCIthesaurus synonym: "malignant Superior Sulcus tumor" EXACT [] synonym: "malignant Superior Sulcus tumour" EXACT [] synonym: "Pancoast tumour" EXACT [] synonym: "Pancoast's syndrome" EXACT [] synonym: "Pancoast's tumour" EXACT [] synonym: "pulmonary sulcus tumor" EXACT [] synonym: "pulmonary sulcus tumour" EXACT [] synonym: "Superior pulmonary sulcus syndrome" EXACT [] xref: MESH:D010178 xref: NCI:C27710 xref: NCI:C55815 xref: NCI:C7527 xref: SNOMEDCT_US_2023_03_01:269562004 xref: SNOMEDCT_US_2023_03_01:278065000 xref: UMLS_CUI:C0030271 xref: UMLS_CUI:C0549471 xref: UMLS_CUI:C1335574 is_a: DOID:1324 ! lung cancer [Term] id: DOID:8009 name: penis mixed squamous cell carcinoma subset: NCIthesaurus xref: NCI:C39959 xref: UMLS_CUI:C1513369 is_a: DOID:5518 ! penis squamous cell carcinoma [Term] id: DOID:801 name: hemarthrosis alt_id: DOID:12025 alt_id: DOID:13059 alt_id: DOID:13646 alt_id: DOID:13933 alt_id: DOID:14242 alt_id: DOID:800 alt_id: DOID:953 synonym: "Haemarthrosis of shoulder joint" EXACT [] synonym: "Haemarthrosis of the ankle and foot" EXACT [] synonym: "Haemarthrosis of the pelvic region and thigh" EXACT [] synonym: "Hemarthrosis involving ankle and foot" EXACT [] synonym: "Hemarthrosis involving forearm" EXACT [] synonym: "Hemarthrosis involving hand" EXACT [] synonym: "Hemarthrosis involving lower leg" EXACT [] synonym: "Hemarthrosis involving pelvic region and thigh" EXACT [] synonym: "Hemarthrosis involving shoulder region" EXACT [] synonym: "Hemarthrosis involving upper arm" EXACT [] synonym: "Hemarthrosis of ankle and/or foot" EXACT [] synonym: "Hemarthrosis of forearm" EXACT [] synonym: "Hemarthrosis of hand" EXACT [] synonym: "Hemarthrosis of lower leg" EXACT [] synonym: "Hemarthrosis of shoulder" EXACT [] synonym: "Hemarthrosis of shoulder region" EXACT [] synonym: "Hemarthrosis of the ankle and foot" EXACT [] synonym: "Hemarthrosis of the ankle and/or foot" EXACT [] synonym: "Hemarthrosis of the forearm" EXACT [] synonym: "Hemarthrosis of the hand" EXACT [] synonym: "Hemarthrosis of the lower leg" EXACT [] synonym: "Hemarthrosis of the pelvic region and thigh" EXACT [] synonym: "Hemarthrosis of the shoulder region" EXACT [] synonym: "Hemarthrosis of the upper arm" EXACT [] synonym: "Hemarthrosis of upper arm" EXACT [] xref: ICD10CM:M25.0 xref: ICD9CM:719.1 xref: MESH:D006395 xref: SNOMEDCT_US_2023_03_01:156581006 xref: UMLS_CUI:C0018924 is_a: DOID:381 ! arthropathy [Term] id: DOID:8011 name: obsolete metastatic fibrosarcoma is_obsolete: true [Term] id: DOID:8012 name: benign pericardial teratoma subset: NCIthesaurus synonym: "Mature teratoma of Pericardium" EXACT [] xref: NCI:C6744 xref: UMLS_CUI:C1334638 is_a: DOID:0050829 ! pericardium disease is_a: DOID:0060091 ! cardiovascular organ benign neoplasm is_a: DOID:0060097 ! thoracic benign neoplasm [Term] id: DOID:8013 name: penis papillary carcinoma def: "A papillary carcinoma that is located_in the penis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22367299] subset: NCIthesaurus synonym: "squamous carcinoma of penis, Papillary type" EXACT [] xref: NCI:C6983 xref: UMLS_CUI:C1335322 is_a: DOID:5518 ! penis squamous cell carcinoma [Term] id: DOID:8014 name: obsolete ovarian dermoid cyst with corticotropin secreting adenoma is_obsolete: true [Term] id: DOID:8016 name: obsolete anaplastic ganglioglioma synonym: "anaplastic ganglioglioma" EXACT [] synonym: "anaplastic ganglioglioma (morphologic abnormality)" EXACT [] synonym: "ganglioglioma, anaplastic (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:8018 name: obsolete renal pelvis and ureter regional transitional cell cancer synonym: "regional Urothelial carcinoma of the renal Pelvis and Ureter" EXACT [] is_obsolete: true [Term] id: DOID:8019 name: obsolete renal pelvis and ureter recurrent transitional cell cancer synonym: "recurrent Urothelial carcinoma of the renal Pelvis and Ureter" EXACT [] is_obsolete: true [Term] id: DOID:8020 name: glomangiomyoma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8713/0 xref: NCI:C4223 xref: SNOMEDCT_US_2023_03_01:189745002 xref: UMLS_CUI:C0334422 is_a: DOID:5238 ! benign perivascular tumor [Term] id: DOID:8021 name: obsolete medullary carcinoma with amyloid stroma synonym: "Parafollicular cell carcinoma with Amyloid Stroma" EXACT [] is_obsolete: true [Term] id: DOID:8022 name: liver fibrosarcoma def: "A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver." [url:http\://en.wikipedia.org/wiki/Fibrosarcoma] subset: NCIthesaurus xref: NCI:C5832 xref: UMLS_CUI:C1333966 is_a: DOID:270 ! liver sarcoma [Term] id: DOID:8023 name: myxoid liposarcoma of the ovary def: "A myxoid liposarcoma that is located_in the ovary." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20407326] subset: NCIthesaurus synonym: "Myxoid Liposarcoma of Ovary" EXACT [] xref: NCI:C5235 xref: UMLS_CUI:C1335170 is_a: DOID:5363 ! myxoid liposarcoma is_a: DOID:5697 ! liposarcoma of the ovary [Term] id: DOID:8024 name: obsolete male genital tuberculosis subset: gram-positive_bacterial_infectious_disease synonym: "Tuberculosis of male genital organs" RELATED [] is_obsolete: true [Term] id: DOID:8025 name: gastric signet ring cell adenocarcinoma subset: NCIthesaurus synonym: "Signet Ring cell adenocarcinoma of the stomach" EXACT [] xref: NCI:C5250 xref: UMLS_CUI:C1335965 is_a: DOID:6217 ! gastric diffuse adenocarcinoma [Term] id: DOID:8026 name: obsolete intestinal adenocarcinoma of the stomach synonym: "gastric intestinal type adenocarcinoma" EXACT [] is_obsolete: true [Term] id: DOID:8029 name: sporadic breast cancer def: "A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/sporadic-cancer] subset: NCIthesaurus xref: NCI:C7566 xref: UMLS_CUI:C1336076 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:8030 name: periocular meningioma subset: NCIthesaurus xref: NCI:C6777 xref: UMLS_CUI:C1335383 is_a: DOID:3565 ! meningioma [Term] id: DOID:8031 name: pineal region meningioma subset: NCIthesaurus synonym: "Pineal meningioma" EXACT [] xref: NCI:C6756 xref: UMLS_CUI:C1335418 is_a: DOID:3565 ! meningioma is_a: DOID:5032 ! pineal gland cancer [Term] id: DOID:8036 name: childhood ovarian embryonal carcinoma def: "An ovarian embryonal carcinoma that occurs in childhood." [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood embryonal carcinoma of the ovary" RELATED [] synonym: "pediatric Embryonal carcinoma of Ovary" EXACT [] xref: NCI:C6546 xref: UMLS_CUI:C1332989 is_a: DOID:5681 ! ovarian embryonal carcinoma [Term] id: DOID:8042 name: testis polyembryoma subset: NCIthesaurus synonym: "Polyembryoma of testis" EXACT [] xref: NCI:C40962 xref: UMLS_CUI:C1514200 is_a: DOID:5556 ! testicular malignant germ cell cancer [Term] id: DOID:8043 name: chest wall parachordoma def: "A parachordoma arising from the chest wall." [url:https\://pubmed.ncbi.nlm.nih.gov/24135242/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Parachordoma of the Chest Wall" EXACT [] xref: NCI:C6720 xref: UMLS_CUI:C1332934 is_a: DOID:2647 ! parachordoma [Term] id: DOID:8045 name: obsolete recurrent cancer of prostate synonym: "recurrent prostate carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:8050 name: bladder tubulo-cystic clear cell adenocarcinoma subset: NCIthesaurus xref: NCI:C39847 xref: UMLS_CUI:C1511203 is_a: DOID:5306 ! bladder clear cell adenocarcinoma [Term] id: DOID:8051 name: bladder papillary clear cell adenocarcinoma subset: NCIthesaurus xref: NCI:C39848 xref: UMLS_CUI:C1511196 is_a: DOID:5306 ! bladder clear cell adenocarcinoma [Term] id: DOID:8055 name: obsolete recurrent urethral cancer def: "A cancer of urethra that has recurred after it has been treated. The cancer may come back in the urethra or in other parts of the body." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient/page3] synonym: "relapsed urethra carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:8057 name: olfactory groove meningioma subset: DO_cancer_slim subset: NCIthesaurus synonym: "meningioma of the Olfactory Groove" EXACT [] xref: MESH:D008579 xref: NCI:C6771 xref: UMLS_CUI:C1335107 is_a: DOID:4436 ! anterior cranial fossa meningioma [Term] id: DOID:8058 name: pituitary stalk meningioma subset: NCIthesaurus synonym: "meningioma of the Pituitary Stalk" EXACT [] xref: NCI:C5311 xref: UMLS_CUI:C1335422 is_a: DOID:3565 ! meningioma is_a: DOID:3643 ! sella turcica neoplasm [Term] id: DOID:8060 name: frontal sinus inverted papilloma subset: NCIthesaurus synonym: "Inverted papilloma of the Frontal sinus" EXACT [] xref: NCI:C6842 xref: UMLS_CUI:C1333644 is_a: DOID:1361 ! frontal sinus benign neoplasm is_a: DOID:2615 ! papilloma [Term] id: DOID:8068 name: intraductal breast myoepitheliosis def: "A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1709559] subset: NCIthesaurus xref: NCI:C40387 xref: UMLS_CUI:C1512935 is_a: DOID:7521 ! breast myoepitheliosis [Term] id: DOID:807 name: carotid artery occlusion synonym: "Occlusion and stenosis of carotid artery" EXACT [] xref: ICD9CM:433.10 xref: UMLS_CUI:C0375275 is_a: DOID:3407 ! carotid artery disease is_a: DOID:5976 ! occlusion precerebral artery [Term] id: DOID:8072 name: sarcomatous intrahepatic cholangiocarcinoma subset: NCIthesaurus xref: NCI:C41620 xref: UMLS_CUI:C1519184 is_a: DOID:4928 ! intrahepatic cholangiocarcinoma [Term] id: DOID:8078 name: childhood central nervous system germinoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus xref: NCI:C27406 xref: UMLS_CUI:C1332953 is_a: DOID:4438 ! central nervous system germinoma [Term] id: DOID:8079 name: obsolete monomorphic T-cell PTLD is_obsolete: true [Term] id: DOID:8080 name: obsolete ovarian mucinous cystic tumor associated with pseudomyxoma peritonei is_obsolete: true [Term] id: DOID:8081 name: myxomatous pattern testicular yolk sac tumor subset: NCIthesaurus xref: NCI:C39929 xref: UMLS_CUI:C1515309 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:8082 name: cellular congenital mesoblastic nephroma subset: NCIthesaurus xref: NCI:C39815 xref: SNOMEDCT_US_2023_03_01:405941007 xref: UMLS_CUI:C1320471 is_a: DOID:4773 ! congenital mesoblastic nephroma [Term] id: DOID:8083 name: classic congenital mesoblastic nephroma subset: NCIthesaurus xref: NCI:C39814 xref: UMLS_CUI:C1516475 is_a: DOID:4773 ! congenital mesoblastic nephroma [Term] id: DOID:8084 name: obsolete cervical squamotransitional carcinoma def: "A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillary tumors with a transitional differentiation." [url:http\://books.google.com/books?id=ab545XL-MBEC&pg=PA245&lpg#v=onepage&q&f=false] is_obsolete: true [Term] id: DOID:8087 name: obsolete ovarian dermoid cyst with sebaceous carcinoma is_obsolete: true [Term] id: DOID:8089 name: obsolete advanced adult primary hepatoma synonym: "Advanced adult primary Hepatocellular carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:809 name: cocaine abuse def: "A substance abuse that involves the recurring use of cocaine despite negative consequences." [url:http\://en.wikipedia.org/wiki/Cocaine_Abuse] xref: ICD10CM:F14.1 xref: ICD9CM:305.6 xref: MESH:D019970 xref: SNOMEDCT_US_2023_03_01:78267003 xref: UMLS_CUI:C0009171 is_a: DOID:302 ! substance abuse [Term] id: DOID:8093 name: maxillary sinus Schneiderian papilloma subset: NCIthesaurus synonym: "Schneiderian papilloma of the maxillary sinus" EXACT [] xref: NCI:C6839 xref: UMLS_CUI:C1334646 is_a: DOID:1358 ! maxillary sinus benign neoplasm [Term] id: DOID:8094 name: obsolete cervical condylomatous squamous cell carcinoma def: "A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause warty malignant tumors in squamous epithelium of cervix." [url:http\://books.google.com/books?id=73QOP6Xqh6EC&pg=PA135&lpg#v=onepage&q&f=false, url:https\://www.ncbi.nlm.nih.gov/pubmed/12685182] synonym: "cervical Warty squamous cell carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:8096 name: bladder mixed adenocarcinoma subset: NCIthesaurus xref: NCI:C39839 xref: UMLS_CUI:C1511192 is_a: DOID:3711 ! bladder adenocarcinoma [Term] id: DOID:8097 name: bladder hepatoid adenocarcinoma subset: NCIthesaurus xref: NCI:C39838 xref: UMLS_CUI:C1511189 is_a: DOID:3711 ! bladder adenocarcinoma [Term] id: DOID:810 name: obsolete HIV-associated lipodystrophy syndrome def: "A lipodystrophy and is_a Human immunodeficiency virus infectious disease that is characterized by loss of subcutaneous fat, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Anti-retroviral medications are also associated with the disease. The infection has_symptom fat loss in face, buttocks, arms, legs." [url:http\://en.wikipedia.org/wiki/Hiv-associated_lipodystrophy_syndrome] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:8102 name: fetal adenoma subset: NCIthesaurus synonym: "Microfollicular adenoma" EXACT [] xref: NCI:C4160 xref: SNOMEDCT_US_2023_03_01:30301008 xref: UMLS_CUI:C0334328 is_a: DOID:6204 ! follicular adenoma [Term] id: DOID:8104 name: vaginal tubulovillous adenoma alt_id: DOID:6809 def: "A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23202776, url:https\://www.ncbi.nlm.nih.gov/pubmed/25672089] subset: NCIthesaurus synonym: "vaginal tubular adenoma" EXACT [] xref: NCI:C40258 xref: UMLS_CUI:C1519933 is_a: DOID:5402 ! vaginal adenoma [Term] id: DOID:8105 name: extrahepatic bile duct cystadenoma def: "A bile duct cystadenoma located_in an extrahepatic bile duct." [url:https\://pubmed.ncbi.nlm.nih.gov/25830005/] subset: NCIthesaurus synonym: "Cystadenoma of the extrahepatic bile duct" EXACT [] xref: NCI:C5851 xref: UMLS_CUI:C1333504 is_a: DOID:5384 ! bile duct cystadenoma [Term] id: DOID:8106 name: cellular phase chronic idiopathic myelofibrosis subset: NCIthesaurus xref: NCI:C41237 xref: UMLS_CUI:C1516553 is_a: DOID:4971 ! myelofibrosis [Term] id: DOID:8107 name: obsolete S-T syndrome is_obsolete: true [Term] id: DOID:8108 name: fibroepithelial polyp of urethra subset: NCIthesaurus synonym: "urethral Fibroepithelial polyp" EXACT [] xref: NCI:C6170 xref: UMLS_CUI:C1336884 is_a: DOID:6873 ! skin tag is_a: DOID:732 ! urethral disease [Term] id: DOID:8109 name: nephrogenic adenoma of the urethra subset: NCIthesaurus synonym: "Nephrogenic adenoma of urethra" EXACT [] xref: NCI:C7416 xref: UMLS_CUI:C1336889 is_a: DOID:730 ! urethral benign neoplasm is_a: DOID:7334 ! nephrogenic adenoma [Term] id: DOID:811 name: lipodystrophy def: "A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25690482, url:https\://www.ncbi.nlm.nih.gov/pubmed/25833179] subset: NCIthesaurus xref: ICD10CM:E88.1 xref: ICD9CM:272.6 xref: MESH:D008060 xref: NCI:C97093 xref: SNOMEDCT_US_2023_03_01:190789006 xref: UMLS_CUI:C0023787 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:8110 name: periampullary adenocarcinoma subset: NCIthesaurus xref: NCI:C27322 xref: UMLS_CUI:C1335377 is_a: DOID:3502 ! ampulla of Vater adenocarcinoma [Term] id: DOID:8115 name: obsolete recurrent childhood cerebral astrocytoma is_obsolete: true [Term] id: DOID:8117 name: neuronitis def: "A central nervous system disease that is characterized by neuron inflammation." [url:https\://en.wikipedia.org/wiki/Neuroinflammation] subset: NCIthesaurus xref: NCI:C34847 xref: UMLS_CUI:C0027881 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:8118 name: mature gastric teratoma def: "A mature teratoma that has_material_basis_in gastric tissue." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22953284] subset: NCIthesaurus synonym: "Mature teratoma of stomach" EXACT [] xref: NCI:C5260 xref: UMLS_CUI:C1334635 is_a: DOID:5561 ! gastric teratoma [Term] id: DOID:8119 name: anal canal Paget's disease subset: NCIthesaurus synonym: "anal canal Paget disease" EXACT [] synonym: "Paget's disease of anal canal" RELATED [] synonym: "Paget's disease of the anal canal" EXACT [] xref: NCI:C7477 xref: SNOMEDCT_US_2023_03_01:236811000119101 xref: UMLS_CUI:C1332261 is_a: DOID:3692 ! anal canal adenocarcinoma [Term] id: DOID:8120 name: obsolete adenocarcinoma in villous adenoma synonym: "adenocarcinoma in villous adenoma (morphologic abnormality)" EXACT [] synonym: "villous adenoma or adenocarcinoma NOS (morphologic abnormality)" EXACT [] synonym: "villous adenomas and adenocarcinomas (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:8121 name: obsolete metastatic extra-osseous Ewing's sarcoma synonym: "metastatic extraskeletal Ewing's sarcoma" EXACT [] is_obsolete: true [Term] id: DOID:8122 name: pseudovascular skin squamous cell carcinoma subset: NCIthesaurus xref: NCI:C27542 xref: UMLS_CUI:C1335974 is_a: DOID:3151 ! skin squamous cell carcinoma [Term] id: DOID:8125 name: osteochondrosis alt_id: DOID:7490 def: "An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone." [url:http\://medical-dictionary.thefreedictionary.com/osteochondrosis] subset: NCIthesaurus synonym: "apophysitis" EXACT [] synonym: "Epiphyseal necrosis" EXACT [] synonym: "epiphysitis" EXACT [] synonym: "osteochondritis" EXACT [] synonym: "osteochondritis juvenilis" EXACT [] xref: ICD10CM:M92 xref: ICD10CM:M93.9 xref: ICD9CM:732.6 xref: MESH:D055034 xref: NCI:C34879 xref: SNOMEDCT_US_2023_03_01:203398006 xref: SNOMEDCT_US_2023_03_01:65477003 xref: UMLS_CUI:C0029429 xref: UMLS_CUI:C0158445 is_a: DOID:0080008 ! ischemic bone disease [Term] id: DOID:813 name: septic arthritis alt_id: DOID:10920 alt_id: DOID:12314 alt_id: DOID:14519 alt_id: DOID:1683 alt_id: DOID:2002 alt_id: DOID:2003 alt_id: DOID:812 def: "An arthritis that involves infection by a pathogen located_in joint." [url:http\://en.wikipedia.org/wiki/Septic_arthritis, url:http\://www.hmc.psu.edu/healthinfo/s/septicarthritis.htm, url:http\://www.mayoclinic.com/health/bone-and-joint-infections/DS00545, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000430.htm] subset: DO_rare_slim subset: NCIthesaurus synonym: "infectious arthritis" EXACT [] xref: GARD:6781 xref: ICD10CM:M00 xref: ICD9CM:711.90 xref: ICD9CM:711.91 xref: ICD9CM:711.92 xref: ICD9CM:711.93 xref: ICD9CM:711.94 xref: ICD9CM:711.95 xref: ICD9CM:711.96 xref: ICD9CM:711.97 xref: MESH:D001170 xref: NCI:C26700 xref: SNOMEDCT_US_2023_03_01:201594004 xref: SNOMEDCT_US_2023_03_01:201595003 xref: SNOMEDCT_US_2023_03_01:201596002 xref: SNOMEDCT_US_2023_03_01:201597006 xref: SNOMEDCT_US_2023_03_01:201598001 xref: SNOMEDCT_US_2023_03_01:201599009 xref: SNOMEDCT_US_2023_03_01:372938004 xref: SNOMEDCT_US_2023_03_01:428437005 xref: UMLS_CUI:C0003869 xref: UMLS_CUI:C0157843 xref: UMLS_CUI:C0157844 xref: UMLS_CUI:C0157845 xref: UMLS_CUI:C0157846 xref: UMLS_CUI:C0157847 xref: UMLS_CUI:C0157848 xref: UMLS_CUI:C0157849 is_a: DOID:848 ! arthritis [Term] id: DOID:8130 name: breast columnar cell mucinous carcinoma alt_id: DOID:5996 def: "A breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid." [url:http\://www.pathologyoutlines.com/topic/breastmalignantmucinouscystadenocarcinoma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/29658333] subset: NCIthesaurus synonym: "blunt duct adenosis of breast" EXACT [] synonym: "Columnar Cell Change of the Breast" EXACT [] xref: NCI:C40355 xref: UMLS_CUI:C1511305 is_a: DOID:3610 ! breast mucinous carcinoma [Term] id: DOID:8131 name: obsolete sclerosing mucoepidermoid thyroid carcinoma with eosinophilia is_obsolete: true [Term] id: DOID:8133 name: epiglottis cancer alt_id: DOID:8132 alt_id: DOID:8896 subset: NCIthesaurus synonym: "epiglottic cancer" EXACT [] synonym: "malignant tumor of Epiglottis" EXACT [] xref: ICD10CM:C10.1 xref: ICD9CM:146.4 xref: NCI:C35697 xref: NCI:C4836 xref: SNOMEDCT_US_2023_03_01:187849008 xref: SNOMEDCT_US_2023_03_01:93670003 xref: UMLS_CUI:C0496765 xref: UMLS_CUI:C0585946 xref: UMLS_CUI:C1112382 is_a: DOID:13476 ! supraglottis cancer [Term] id: DOID:8135 name: gallbladder lymphoma subset: NCIthesaurus synonym: "Lymphoma of the gallbladder" EXACT [] xref: NCI:C5734 xref: UMLS_CUI:C1333748 is_a: DOID:0060058 ! lymphoma is_a: DOID:3121 ! gallbladder cancer [Term] id: DOID:8136 name: obsolete transitional cell carcinoma of the ureter with mixed differentiation synonym: "ureteral transitional cell carcinoma with mixed differentiation" EXACT [] is_obsolete: true [Term] id: DOID:8137 name: thymus clear cell carcinoma subset: NCIthesaurus synonym: "Clear cell carcinoma of the Thymus" EXACT [] xref: NCI:C6462 xref: UMLS_CUI:C1333069 is_a: DOID:3284 ! thymic carcinoma [Term] id: DOID:8138 name: thymus sarcomatoid carcinoma subset: NCIthesaurus synonym: "Thymic Carcinosarcoma" EXACT [] xref: NCI:C6463 xref: UMLS_CUI:C1335924 is_a: DOID:3284 ! thymic carcinoma [Term] id: DOID:8140 name: adrenal gland ganglioneuroblastoma subset: NCIthesaurus xref: NCI:C7646 xref: UMLS_CUI:C1332176 is_a: DOID:3953 ! adrenal gland cancer [Term] id: DOID:8144 name: pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma subset: NCIthesaurus synonym: "CLL/SLL with Unmutated IGVH" EXACT [] xref: NCI:C37204 xref: UMLS_CUI:C1333038 is_a: DOID:6354 ! chronic lymphocytic leukemia/small lymphocytic lymphoma [Term] id: DOID:8145 name: obsolete metastatic neoplasm to the gallbladder synonym: "metastatic tumor to the gallbladder" EXACT [] synonym: "secondary malignant neoplasm of gallbladder (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8146 name: obsolete anaplastic secondary supratentorial astrocytic neoplasm synonym: "Undifferentiated secondary Supratentorial astrocytoma" EXACT [] is_obsolete: true [Term] id: DOID:8148 name: obsolete recurrent childhood malignant germ cell tumor synonym: "recurrent childhood malignant germ cell neoplasm" EXACT [] is_obsolete: true [Term] id: DOID:8149 name: malignant childhood germ cell neoplasm subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "malignant pediatric germ cell tumor" EXACT [] xref: NCI:C6541 xref: UMLS_CUI:C1334574 is_a: DOID:6053 ! childhood germ cell cancer [Term] id: DOID:8150 name: pancreatic invasive intraductal papillary-mucinous carcinoma subset: NCIthesaurus xref: NCI:C5726 xref: SNOMEDCT_US_2023_03_01:780821007 xref: UMLS_CUI:C1518871 is_a: DOID:7574 ! pancreatic intraductal papillary-colloid carcinoma [Term] id: DOID:8151 name: appendiceal L-cell glucagon-like peptide producing tumor subset: NCIthesaurus synonym: "appendiceal L-cell glucagon-like peptide producing tumour" EXACT [] synonym: "malignant appendiceal glucagonoma" EXACT [] synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumor" EXACT [] synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumour" EXACT [] xref: NCI:C27445 xref: UMLS_CUI:C3274138 is_a: DOID:11239 ! appendix cancer [Term] id: DOID:8152 name: obsolete distal 1/3 of common bile duct adenocarcinoma synonym: "adenocarcinoma of the Distal 1/3 of the Common bile duct" EXACT [] is_obsolete: true [Term] id: DOID:8153 name: fibroosseous pseudotumor of digits subset: NCIthesaurus synonym: "Fibroosseous Digital Pseudotumor" EXACT [] xref: NCI:C6573 xref: UMLS_CUI:C1333612 is_a: DOID:0060094 ! bone benign neoplasm [Term] id: DOID:8158 name: complement component 5 deficiency def: "A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system." [url:http\://omim.org/entry/609536, url:https\://ghr.nlm.nih.gov/gene/C5] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "C5 deficiency" EXACT [] xref: MESH:C537005 xref: MIM:609536 xref: NCI:C9469 xref: ORDO:169150 is_a: DOID:626 ! complement deficiency [Term] id: DOID:8160 name: obsolete adult desmoplastic small round cell tumor def: "A desmoplastic small round-cell tumor that primarily is located_in the abdomen." [url:http\://en.wikipedia.org/wiki/Desmoplastic_small_round_cell_tumor] is_obsolete: true [Term] id: DOID:8161 name: oncocytic carcinoma of the thyroid def: "A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4946] comment: OMIM mapping confirmed by DO. [LS]. subset: DO_cancer_slim subset: NCIthesaurus synonym: "Oncocytic (Hurthle-cell) carcinoma" EXACT [] synonym: "thyroid gland Hurthle cell carcinoma" EXACT [] synonym: "Thyroid Gland Oncocytic Carcinoma" EXACT [] xref: ICDO:8290/3 xref: MESH:C536913 xref: MIM:607464 xref: NCI:C4946 xref: SNOMEDCT_US_2023_03_01:423158009 xref: UMLS_CUI:C0749424 is_a: DOID:3962 ! follicular thyroid carcinoma [Term] id: DOID:8162 name: thyroid Hurthle cell adenoma subset: NCIthesaurus synonym: "benign oncocytoma of the thyroid" EXACT [] xref: NCI:C6042 xref: UMLS_CUI:C1336750 is_a: DOID:6204 ! follicular adenoma [Term] id: DOID:8163 name: obsolete gallbladder cancer unresectable synonym: "gallbladder carcinoma Unresectable" EXACT [] is_obsolete: true [Term] id: DOID:8167 name: gallbladder melanoma subset: NCIthesaurus synonym: "malignant melanoma of gallbladder" EXACT [] xref: NCI:C5735 xref: UMLS_CUI:C1333749 is_a: DOID:1909 ! melanoma is_a: DOID:3121 ! gallbladder cancer [Term] id: DOID:817 name: interstitial myocarditis subset: NCIthesaurus xref: NCI:C35786 xref: SNOMEDCT_US_2023_03_01:37925008 xref: UMLS_CUI:C0027060 is_a: DOID:820 ! myocarditis [Term] id: DOID:8170 name: fibroepithelial polyp of the anus subset: NCIthesaurus synonym: "Fibroepithelial polyp of anus" EXACT [] xref: NCI:C5604 is_a: DOID:3128 ! anus disease is_a: DOID:6873 ! skin tag [Term] id: DOID:8177 name: endocervical type cervical adenomyoma def: "A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle." [url:http\://www.pathologyoutlines.com/topic/cervixadenomyoma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/23805464] subset: NCIthesaurus xref: NCI:C40232 xref: UMLS_CUI:C1516405 is_a: DOID:4995 ! cervical adenomyoma [Term] id: DOID:8178 name: endometrial type cervical adenomyoma def: "A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8685218] subset: NCIthesaurus xref: NCI:C40233 xref: UMLS_CUI:C5557432 is_a: DOID:4995 ! cervical adenomyoma [Term] id: DOID:8179 name: cervical atypical polypoid adenomyoma def: "A cervical adenomyoma that is tumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23805464] subset: NCIthesaurus xref: NCI:C40234 xref: UMLS_CUI:C1516409 is_a: DOID:4995 ! cervical adenomyoma [Term] id: DOID:8186 name: fallopian tube gestational choriocarcinoma def: "A gestational choriocarcinoma that is located_in the fallopian tube." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24219747] subset: NCIthesaurus synonym: "Gestational Choriocarcinoma of the fallopian tube" EXACT [] xref: NCI:C6278 xref: UMLS_CUI:C1333593 is_a: DOID:1963 ! fallopian tube carcinoma is_a: DOID:2025 ! gestational choriocarcinoma [Term] id: DOID:8187 name: gestational uterine corpus choriocarcinoma def: "A gestational choriocarcinoma that is located_in the uterine corpus." [url:https\://radiopaedia.org/articles/gestational-choriocarcinoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/16114202] is_a: DOID:2025 ! gestational choriocarcinoma is_a: DOID:8188 ! uterine corpus choriocarcinoma [Term] id: DOID:8188 name: uterine corpus choriocarcinoma def: "A choriocarcinoma that is located_in the uterine corpus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16720931] subset: NCIthesaurus xref: NCI:C27246 xref: UMLS_CUI:C1336904 is_a: DOID:3594 ! choriocarcinoma is_a: DOID:9460 ! uterine corpus cancer [Term] id: DOID:819 name: mediastinitis def: "A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities." [url:http\://www.clinicalradiologyonline.net/article/S0009-9260(04)00002-9/fulltext] subset: NCIthesaurus xref: ICD10CM:J98.51 xref: ICD9CM:519.2 xref: MESH:D008480 xref: NCI:C26827 xref: SNOMEDCT_US_2023_03_01:47597000 xref: UMLS_CUI:C0025064 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:8192 name: obsolete recurrent vulva cancer synonym: "recurrent Vulvar carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:8193 name: papillary pattern testicular yolk sac tumor subset: NCIthesaurus xref: NCI:C39928 xref: UMLS_CUI:C1515310 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:8194 name: obsolete recurrent pediatric hepatoma synonym: "recurrent pediatric Hepatocellular carcinoma" EXACT [] is_obsolete: true [Term] id: DOID:8195 name: hepatoid pattern testicular yolk sac tumor subset: NCIthesaurus xref: NCI:C39931 xref: UMLS_CUI:C1515306 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:8197 name: obsolete ovarian dermoid cyst with melanoma is_obsolete: true [Term] id: DOID:8199 name: obsolete bursa syphilis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Syphilis of synovium, tendon or bursa (disorder)" EXACT [] synonym: "Syphilis of synovium, tendon or bursa NOS (disorder)" EXACT [] synonym: "Syphilis of synovium, tendon, and bursa" EXACT [] is_obsolete: true [Term] id: DOID:82 name: myotonic cataract def: "A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy." [url:https\://www.nature.com/articles/s41433-018-0161-9, url:https\://www.ncbi.nlm.nih.gov/pubmed/25037086] subset: NCIthesaurus xref: ICD9CM:366.43 xref: NCI:C34833 xref: SNOMEDCT_US_2023_03_01:64741003 xref: UMLS_CUI:C0027128 is_a: DOID:83 ! cataract [Term] id: DOID:820 name: myocarditis def: "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle." [url:http\://en.wikipedia.org/wiki/Myocarditis] subset: DO_rare_slim subset: NCIthesaurus synonym: "Myocardial inflammation" EXACT [] xref: GARD:7137 xref: ICD10CM:I51.4 xref: ICD9CM:429.0 xref: KEGG:05416 xref: MESH:D009205 xref: NCI:C34831 xref: SNOMEDCT_US_2023_03_01:50920009 xref: UMLS_CUI:C0027059 is_a: DOID:3978 ! extrinsic cardiomyopathy property_value: exactMatch "MESH:D009205" xsd:string [Term] id: DOID:8200 name: tertiary syphilis def: "A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tertiary+syphilis] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: sexually_transmitted_infectious_disease synonym: "late syphilis" EXACT [] xref: ICD10CM:A52 xref: ICD9CM:097.0 xref: MESH:C536774 xref: NCI:C128414 xref: SNOMEDCT_US_2023_03_01:72083004 xref: UMLS_CUI:C0153188 is_a: DOID:4166 ! syphilis [Term] id: DOID:8203 name: sacral spinal canal and spinal cord meningioma subset: NCIthesaurus synonym: "meningioma of the Sacral Spinal canal and Spinal Cord" EXACT [] xref: NCI:C5299 xref: UMLS_CUI:C1335893 is_a: DOID:1140 ! spinal canal and spinal cord meningioma [Term] id: DOID:8205 name: obsolete alloimmunization is_obsolete: true [Term] id: DOID:8207 name: hilar lung carcinoma subset: NCIthesaurus xref: NCI:C7454 xref: UMLS_CUI:C1334445 is_a: DOID:3905 ! lung carcinoma is_a: DOID:7696 ! lung hilum cancer [Term] id: DOID:8208 name: lung superior sulcus carcinoma subset: NCIthesaurus synonym: "superior sulcus carcinoma of lung" RELATED [] synonym: "Superior Sulcus carcinoma of the lung" EXACT [] xref: NCI:C7779 xref: UMLS_CUI:C1336529 is_a: DOID:8007 ! Pancoast tumor [Term] id: DOID:8211 name: fallopian tube cystadenofibroma def: "A fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces." [url:http\://atlasgeneticsoncology.org/Tumors/FallopTubTumID5279.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/26549083] subset: NCIthesaurus xref: NCI:C40114 xref: UMLS_CUI:C1517111 is_a: DOID:5478 ! fallopian tube adenofibroma [Term] id: DOID:8216 name: parapharyngeal meningioma subset: NCIthesaurus synonym: "Primary Parapharyngeal Meningioma" EXACT [] xref: NCI:C5303 xref: UMLS_CUI:C5421232 is_a: DOID:3565 ! meningioma [Term] id: DOID:8219 name: obsolete recurrent epithelioid sarcoma synonym: "relapsed epithelioid sarcoma" EXACT [] is_obsolete: true [Term] id: DOID:8220 name: obsolete recurrent extraosseous Ewing's sarcoma synonym: "recurrent extraskeletal Ewing's sarcoma" EXACT [] is_obsolete: true [Term] id: DOID:8221 name: upper clivus meningioma subset: NCIthesaurus synonym: "meningioma of the Upper Clivus" EXACT [] xref: NCI:C5290 xref: UMLS_CUI:C1336871 is_a: DOID:6517 ! clivus meningioma [Term] id: DOID:8222 name: obsolete adenocarcinoma in tubular adenoma synonym: "adenocarcinoma in tubular adenoma" EXACT [] is_obsolete: true [Term] id: DOID:8223 name: penile urethral cancer subset: NCIthesaurus xref: NCI:C39868 xref: UMLS_CUI:C1518950 is_a: DOID:736 ! male urethral cancer [Term] id: DOID:8224 name: central breast papilloma alt_id: DOID:8226 def: "A breast duct papilloma that is located_in a major duct." [url:https\://radiopaedia.org/articles/intraductal-papilloma-of-breast, url:https\://www.ncbi.nlm.nih.gov/pubmed/21310798] subset: NCIthesaurus synonym: "large duct breast papilloma" EXACT [] synonym: "solitary intraductal breast papilloma" EXACT [] xref: NCI:C36087 xref: UMLS_CUI:C1332896 is_a: DOID:1626 ! breast duct papilloma [Term] id: DOID:8225 name: microscopic breast papilloma subset: NCIthesaurus xref: NCI:C36088 xref: UMLS_CUI:C1335390 is_a: DOID:1626 ! breast duct papilloma [Term] id: DOID:8227 name: atypical breast papilloma def: "A breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20407326] subset: NCIthesaurus xref: NCI:C36089 xref: UMLS_CUI:C1332346 is_a: DOID:1626 ! breast duct papilloma [Term] id: DOID:8228 name: obsolete metastatic extraskeletal osteosarcoma synonym: "metastatic extraskeletal Osteogenic sarcoma" EXACT [] is_obsolete: true [Term] id: DOID:8229 name: obsolete metastatic small intestinal adenocarcinoma is_obsolete: true [Term] id: DOID:823 name: periapical periodontitis synonym: "Apical periodontitis" EXACT [] xref: ICD10CM:K04.5 xref: MESH:D010485 xref: SNOMEDCT_US_2023_03_01:39273001 xref: UMLS_CUI:C0031030 is_a: DOID:824 ! periodontitis [Term] id: DOID:8230 name: intrahepatic biliary papillomatosis def: "A biliary papillomatosis located_in an intrahepatic bile duct." [url:https\://pubmed.ncbi.nlm.nih.gov/26885145/] subset: NCIthesaurus xref: NCI:C7125 xref: UMLS_CUI:C1334258 is_a: DOID:5468 ! biliary papillomatosis [Term] id: DOID:8233 name: inflammatory liposarcoma subset: NCIthesaurus xref: NCI:C6508 xref: SNOMEDCT_US_2023_03_01:28655007 xref: UMLS_CUI:C1370890 is_a: DOID:5690 ! well-differentiated liposarcoma [Term] id: DOID:8234 name: obsolete malignant hemangiopericytoma recurrent synonym: "relapsed malignant hemangiopericytoma" EXACT [] is_obsolete: true [Term] id: DOID:8238 name: obsolete metastatic endometrial carcinoma synonym: "stage IV cancer of Uterus" EXACT [] is_obsolete: true [Term] id: DOID:8239 name: lower clivus meningioma subset: NCIthesaurus synonym: "meningioma of the lower Clivus" EXACT [] xref: NCI:C5288 xref: UMLS_CUI:C1334434 is_a: DOID:6517 ! clivus meningioma [Term] id: DOID:824 name: periodontitis subset: NCIthesaurus synonym: "chronic pericementitis" EXACT [] xref: EFO:0000649 xref: ICD10CM:K05.3 xref: MESH:D010518 xref: NCI:C34918 xref: SNOMEDCT_US_2023_03_01:266491004 xref: UMLS_CUI:C0031099 is_a: DOID:3388 ! periodontal disease [Term] id: DOID:8243 name: meningeal melanomatosis def: "A central nervous system melanocytic neoplasm that is characterized as an extra-axial well-encapsulated malignant tumour with diffuse meningeal growth and dark coloration (due to high melanin contents)." [url:https\://neurosurgery.directory/2020/10/04/diffuse-leptomeningeal-melanocytosis/] subset: DO_cancer_slim subset: NCIthesaurus synonym: "Leptomeningeal melanomatosis" EXACT [] xref: ICDO:8728/3 xref: NCI:C6891 xref: SNOMEDCT_US_2023_03_01:128731008 xref: UMLS_CUI:C1266114 is_a: DOID:4955 ! central nervous system melanocytic neoplasm [Term] id: DOID:8244 name: obsolete bone recurrent PNET synonym: "recurrent Neuroepithelioma of bone" EXACT [] is_obsolete: true [Term] id: DOID:8246 name: obsolete breast myoid hamartoma is_obsolete: true [Term] id: DOID:8251 name: adult pleomorphic rhabdomyosarcoma subset: DO_cancer_slim subset: NCIthesaurus xref: ICDO:8901/3 xref: NCI:C27369 xref: SNOMEDCT_US_2023_03_01:77455004 xref: UMLS_CUI:C1332211 is_a: DOID:3250 ! pleomorphic rhabdomyosarcoma [Term] id: DOID:8252 name: chronic rhinitis def: "A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding." [url:http\://www.merck.com/mmhe/sec19/ch221/ch221g.html?qt=chronic%20rhinitis&alt=sh] subset: NCIthesaurus synonym: "Rhinitis - chronic" EXACT [] xref: ICD10CM:J31.0 xref: ICD9CM:472.0 xref: NCI:C34479 xref: SNOMEDCT_US_2023_03_01:155522005 xref: UMLS_CUI:C0008711 is_a: DOID:4483 ! rhinitis [Term] id: DOID:8255 name: vulva fibroepithelial polyp subset: NCIthesaurus synonym: "Vulval Fibroepithelial polyp" EXACT [] xref: NCI:C6857 xref: UMLS_CUI:C1336978 is_a: DOID:2059 ! vulvar disease is_a: DOID:6873 ! skin tag [Term] id: DOID:8256 name: olfactory neural tumor is_a: DOID:370 ! malignant olfactory nerve neoplasm [Term] id: DOID:8257 name: obsolete transitional cell carcinoma of the ureter with squamous differentiation synonym: "ureteral transitional cell carcinoma with squamous differentiation" EXACT [] is_obsolete: true [Term] id: DOID:8259 name: bulbomembranous urethral cancer subset: NCIthesaurus xref: NCI:C39869 xref: UMLS_CUI:C1511339 is_a: DOID:736 ! male urethral cancer [Term] id: DOID:8269 name: obsolete adenocarcinoma in adenomatous polyposis coli synonym: "adenocarcinoma in adenomatous polyposis Coli" EXACT [] synonym: "adenocarcinoma in adenomatous polyposis coli (morphologic abnormality)" EXACT [] is_obsolete: true [Term] id: DOID:827 name: ureter tuberculosis def: "An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28087922] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease synonym: "tuberculosis of ureter" EXACT [] xref: ICD9CM:016.2 xref: SNOMEDCT_US_2023_03_01:81359005 xref: UMLS_CUI:C0152800 is_a: DOID:1426 ! ureteral disease is_a: DOID:2149 ! urogenital tuberculosis [Term] id: DOID:8272 name: anterior urethra cancer def: "A female urethral cancer located_in the anterior urethra." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/anterior-urethral-cancer] subset: NCIthesaurus synonym: "Anterior urethral malignant tumor" EXACT [] xref: NCI:C7641 xref: UMLS_CUI:C0279930 is_a: DOID:738 ! female urethral cancer [Term] id: DOID:8274 name: synovial angioma subset: NCIthesaurus synonym: "hemangioma of Synovium" EXACT [] xref: NCI:C6525 xref: UMLS_CUI:C1336546 is_a: DOID:0060123 ! connective tissue benign neoplasm is_a: DOID:255 ! hemangioma [Term] id: DOID:8275 name: intratubular embryonal carcinoma def: "An embryonal testis carcinoma that is located within a tubule." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11900581] subset: NCIthesaurus xref: NCI:C7325 xref: UMLS_CUI:C1336096 is_a: DOID:5680 ! embryonal testis carcinoma [Term] id: DOID:8276 name: obsolete Hodgkin-like posttransplantation lymphoproliferative disease synonym: "Hodgkin's-like PTLD" EXACT [] is_obsolete: true [Term] id: DOID:8281 name: obsolete recurrent malignant peripheral nerve sheath neoplasm synonym: "relapsed MPNST" EXACT [] is_obsolete: true [Term] id: DOID:8282 name: adult epithelioid sarcoma subset: NCIthesaurus xref: NCI:C7944 xref: UMLS_CUI:C0279545 is_a: DOID:6193 ! epithelioid sarcoma [Term] id: DOID:8283 name: peritonitis alt_id: DOID:8694 alt_id: DOID:8863 alt_id: DOID:9233 def: "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output." [url:http\://www.merck.com/mmpe/sec02/ch011/ch011b.html#sec02-ch011-ch011b-402, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001335.htm] synonym: "acute generalized peritonitis" EXACT [] synonym: "primary bacterial peritonitis" EXACT [] synonym: "Retractile mesenteritis" EXACT [] synonym: "sclerosing mesenteritis" EXACT [] xref: ICD9CM:567.8 xref: SNOMEDCT_US_2023_03_01:197183001 xref: UMLS_CUI:C0029823 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:8285 name: obsolete nonmetastatic epithelioid sarcoma synonym: "Non-metastatic epithelioid cell sarcoma" EXACT [] is_obsolete: true [Term] id: DOID:8286 name: obsolete metastatic epithelioid sarcoma synonym: "metastatic epithelioid cell sarcoma" EXACT [] is_obsolete: true [Term] id: DOID:8287 name: obsolete Multiple Chondromatous hamartoma of lung synonym: "Multiple Chondromatous hamartoma of the lung" EXACT [] is_obsolete: true [Term] id: DOID:8288 name: clear cell squamous cell skin carcinoma subset: NCIthesaurus synonym: "Clear cell squamous cell carcinoma of skin" EXACT [] xref: NCI:C4459 xref: SNOMEDCT_US_2023_03_01:254652000 xref: UMLS_CUI:C0345978 is_a: DOID:3151 ! skin squamous cell carcinoma [Term] id: DOID:8289 name: obsolete breast adenolipoma is_obsolete: true [Term] id: DOID:829 name: obsolete crystal arthropathy alt_id: DOID:10213 alt_id: DOID:12248 alt_id: DOID:13796 alt_id: DOID:14024 alt_id: DOID:14158 alt_id: DOID:2008 alt_id: DOID:2009 alt_id: DOID:828 synonym: "Crystal arthropathy NOS, of multiple sites (disorder)" EXACT [] synonym: "Crystal arthropathy NOS, of the ankle and foot (disorder)" EXACT [] synonym: "Crystal arthropathy NOS, of the forearm (disorder)" EXACT [] synonym: "Crystal arthropathy NOS, of the hand (disorder)" EXACT [] synonym: "Crystal arthropathy NOS, of the lower leg (disorder)" EXACT [] synonym: "Crystal arthropathy NOS, of the pelvic region and thigh" EXACT [] synonym: "Crystal arthropathy NOS, of the pelvic region and thigh (disorder)" EXACT [] synonym: "Crystal arthropathy NOS, of the shoulder region (disorder)" EXACT [] synonym: "Crystal arthropathy NOS, of the upper arm (disorder)" EXACT [] synonym: "Crystal arthropathy of ankle and/or foot" EXACT [] synonym: "Crystal arthropathy of ankle and/or foot (disorder)" EXACT [] synonym: "Crystal arthropathy of forearm" EXACT [] synonym: "Crystal arthropathy of forearm (disorder)" EXACT [] synonym: "Crystal arthropathy of hand" EXACT [] synonym: "Crystal arthropathy of hand (disorder)" EXACT [] synonym: "Crystal arthropathy of lower leg" EXACT [] synonym: "Crystal arthropathy of lower leg (disorder)" EXACT [] synonym: "Crystal arthropathy of multiple sites" EXACT [] synonym: "Crystal arthropathy of multiple sites (disorder)" EXACT [] synonym: "Crystal arthropathy of shoulder region" EXACT [] synonym: "Crystal arthropathy of shoulder region (disorder)" EXACT [] synonym: "Crystal arthropathy of upper arm" EXACT [] synonym: "Crystal arthropathy of upper arm (disorder)" EXACT [] synonym: "Unspecified crystal arthropathy involving ankle and foot" EXACT [] synonym: "Unspecified crystal arthropathy involving forearm" EXACT [] synonym: "Unspecified crystal arthropathy involving hand" EXACT [] synonym: "Unspecified crystal arthropathy involving lower leg" EXACT [] synonym: "Unspecified crystal arthropathy involving multiple sites" EXACT [] synonym: "Unspecified crystal arthropathy involving pelvic region and thigh" EXACT [] synonym: "Unspecified crystal arthropathy involving shoulder region" EXACT [] synonym: "Unspecified crystal arthropathy involving upper arm" EXACT [] is_obsolete: true [Term] id: DOID:8292 name: atypical follicular adenoma subset: NCIthesaurus xref: ICDO:8330/1 xref: NCI:C27729 xref: SNOMEDCT_US_2023_03_01:128892009 xref: UMLS_CUI:C1266046 is_a: DOID:6204 ! follicular adenoma [Term] id: DOID:8295 name: scabies def: "A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Infestation by Sarcoptes scabiei" EXACT [] synonym: "Infestation by Sarcoptes scabiei var hominis" EXACT [] synonym: "Sarcoptic itch" EXACT [] xref: ICD10CM:B86 xref: ICD9CM:133.0 xref: MESH:D012532 xref: NCI:C34998 xref: SNOMEDCT_US_2023_03_01:266224002 xref: UMLS_CUI:C0036262 is_a: DOID:7894 ! mite infestation property_value: exactMatch "MESH:D012532" xsd:string [Term] id: DOID:83 name: cataract def: "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision." [url:http\://en.wikipedia.org/wiki/Cataract, url:https\://www.ncbi.nlm.nih.gov/pubmed/10414631] comment: Xref MGI. subset: DO_RAD_slim xref: ICD10CM:H26 xref: ICD9CM:366.8 xref: MIM:601371 xref: MIM:PS116200 xref: SNOMEDCT_US_2023_03_01:193620000 xref: UMLS_CUI:C0029531 is_a: DOID:0050177 ! monogenic disease is_a: DOID:110 ! lens disease property_value: exactMatch "MESH:D002386" xsd:string [Term] id: DOID:8302 name: mixed endometrial stromal and smooth muscle tumor def: "A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25755804] subset: NCIthesaurus synonym: "Stromomyoma" EXACT [] xref: NCI:C40178 xref: UMLS_CUI:C1513364 is_a: DOID:9460 ! uterine corpus cancer [Term] id: DOID:8303 name: congenital granular cell tumor is_a: DOID:0080015 ! physical disorder is_a: DOID:3350 ! mesenchymal cell neoplasm [Term] id: DOID:8304 name: lymph node palisaded myofibroblastoma def: "A lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called amianthoid fibers." [url:http\://www.pathologyoutlines.com/topic/softtissueintranodalpalisaded.html] subset: NCIthesaurus synonym: "Palisaded Myofibroblastoma of the Lymph Node" EXACT [] xref: NCI:C6584 xref: UMLS_CUI:C1335295 is_a: DOID:0080617 ! lymph node benign neoplasm [Term] id: DOID:8305 name: nonossifying fibromyxoid tumor subset: NCIthesaurus synonym: "Nonossifying Fibromyxoma" EXACT [] xref: NCI:C6583 xref: UMLS_CUI:C1335063 is_a: DOID:3350 ! mesenchymal cell neoplasm [Term] id: DOID:8307 name: early invasive cervical adenocarcinoma def: "A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and microscopic findings that suggest invasion." [url:https\://www.uptodate.com/contents/invasive-cervical-adenocarcinoma] subset: NCIthesaurus xref: NCI:C36096 xref: UMLS_CUI:C1333369 is_a: DOID:3702 ! cervical adenocarcinoma [Term] id: DOID:8309 name: obsolete metastatic carcinoma from the small bowel synonym: "metastatic carcinoma from the small Intestine" EXACT [] is_obsolete: true [Term] id: DOID:8310 name: sclerosing adenosis of breast def: "A proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue." [url:https\://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/adenosis-of-the-breast.html] subset: NCIthesaurus synonym: "Sclerosing breast Adenosis" EXACT [] xref: NCI:C5205 xref: SNOMEDCT_US_2023_03_01:105261000119101 xref: UMLS_CUI:C1335931 is_a: DOID:3274 ! proliferative type fibrocystic change of breast [Term] id: DOID:8329 name: obsolete resectable small intestine carcinoma synonym: "Resectable carcinoma of the Small Bowel" EXACT [] is_obsolete: true [Term] id: DOID:833 name: auditory system cancer def: "An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs." [url:http\://en.wikipedia.org/wiki/Ear] subset: NCIthesaurus xref: MESH:D004428 xref: NCI:C3000 xref: SNOMEDCT_US_2023_03_01:363228008 xref: UMLS_CUI:C0013449 is_a: DOID:0060116 ! sensory system cancer is_a: DOID:2742 ! auditory system disease [Term] id: DOID:8331 name: perineural angioma subset: NCIthesaurus xref: NCI:C6526 xref: UMLS_CUI:C1335382 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:255 ! hemangioma [Term] id: DOID:8334 name: obsolete testicular intratubular germ cell neoplasia with extratubular extension is_obsolete: true [Term] id: DOID:8335 name: microglandular adenosis of breast subset: NCIthesaurus xref: NCI:C5199 xref: UMLS_CUI:C1334753 is_a: DOID:5998 ! microglandular adenosis [Term] id: DOID:8336 name: childhood choriocarcinoma of the ovary def: "A choriocarcinoma of the ovary that is present during childhood." [url:https\://www.sciencedirect.com/science/article/pii/S1875957211000349] subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "childhood ovarian choriocarcinoma" EXACT [] synonym: "pediatric Choriocarcinoma of Ovary" EXACT [] xref: NCI:C6549 xref: UMLS_CUI:C1332987 is_a: DOID:5550 ! choriocarcinoma of ovary [Term] id: DOID:8337 name: appendicitis alt_id: DOID:10275 alt_id: DOID:10276 alt_id: DOID:10947 def: "A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever." [url:http\://www.merck.com/mmhe/sec09/ch132/ch132e.html#sec09-ch132-ch132e-1018, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/appendicitis] subset: NCIthesaurus synonym: "acute appendicitis" EXACT [] synonym: "acute appendicitis with generalized peritonitis" EXACT [] synonym: "acute appendicitis with peritoneal abscess" EXACT [] xref: ICD10CM:K37 xref: ICD9CM:540-543.99 xref: MESH:D001064 xref: NCI:C35145 xref: SNOMEDCT_US_2023_03_01:155729003 xref: UMLS_CUI:C0003615 is_a: DOID:1518 ! cecal disease [Term] id: DOID:8338 name: villoglandular variant cervical mucinous adenocarcinoma def: "A cervical mucinous adenocarcinoma that is characterized by a dominant pattern of well differentiated, thin and simple papillary structures without broad, fibrovascular cores." [url:http\://www.pathologyoutlines.com/topic/uterusvilloglandular.html] subset: NCIthesaurus xref: NCI:C40208 xref: UMLS_CUI:C4289808 is_a: DOID:3701 ! cervical mucinous adenocarcinoma [Term] id: DOID:8339 name: intestinal variant cervical mucinous adenocarcinoma def: "A cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780314/] subset: NCIthesaurus xref: NCI:C40203 xref: UMLS_CUI:C1516422 is_a: DOID:3701 ! cervical mucinous adenocarcinoma [Term] id: DOID:8340 name: endocervical type cervical mucinous adenocarcinoma def: "A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix." [url:https\://pubmed.ncbi.nlm.nih.gov/22990556/] synonym: "Cervical Mucinous Adenocarcinoma, Endocervical-Type" EXACT [] synonym: "Mucinous adenocarcinoma, endocervical type" EXACT [] xref: ICDO:8482/3 xref: SNOMEDCT_US_2023_03_01:128695008 xref: UMLS_CUI:C1266079 is_a: DOID:3701 ! cervical mucinous adenocarcinoma [Term] id: DOID:8344 name: obsolete type 1b ALPS is_obsolete: true [Term] id: DOID:8345 name: obsolete type 2 ALPS is_obsolete: true [Term] id: DOID:8348 name: obsolete localized PNET of bone synonym: "localized Neuroepithelioma of bone" EXACT [] is_obsolete: true [Term] id: DOID:8349 name: obsolete metastatic peripheral neuroepithelioma of bone is_obsolete: true [Term] id: DOID:8352 name: aortic malignant tumor def: "A vascular cancer that is located_in the aorta." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14681654] subset: NCIthesaurus synonym: "aortic malignant neoplasm" EXACT [] xref: NCI:C5375 xref: UMLS_CUI:C1334560 is_a: DOID:175 ! vascular cancer is_a: DOID:520 ! aortic disease [Term] id: DOID:8353 name: epithelioid malignant peripheral nerve sheath tumor subset: NCIthesaurus synonym: "epithelioid MPNST" EXACT [] synonym: "malignant epithelioid neoplasm of the peripheral nerve Sheath" EXACT [] xref: NCI:C6561 xref: SNOMEDCT_US_2023_03_01:253093000 xref: UMLS_CUI:C1321427 is_a: DOID:5940 ! malignant peripheral nerve sheath tumor [Term] id: DOID:8354 name: complement component 3 deficiency def: "A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections." [url:https\://www.omim.org/entry/613779] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "C3 deficiency" EXACT [] xref: MIM:613779 xref: NCI:C9468 xref: ORDO:280133 xref: SNOMEDCT_US_2023_03_01:771443008 xref: UMLS_CUI:C1332655 is_a: DOID:626 ! complement deficiency [Term] id: DOID:8358 name: pseudoglandular variant testicular seminoma subset: NCIthesaurus xref: NCI:C40958 xref: UMLS_CUI:C1515293 is_a: DOID:5842 ! testis seminoma [Term] id: DOID:8361 name: glassy cell variant cervical adenosquamous carcinoma def: "A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm." [url:http\://en.wikipedia.org/wiki/Glassy_cell_carcinoma_of_the_cervix, url:https\://www.ncbi.nlm.nih.gov/pubmed/14749637, url:https\://www.ncbi.nlm.nih.gov/pubmed/15318016] subset: NCIthesaurus xref: NCI:C40212 xref: UMLS_CUI:C1516407 is_a: DOID:5636 ! cervical adenosquamous carcinoma [Term] id: DOID:8362 name: enteric pattern testicular yolk sac tumor subset: NCIthesaurus xref: NCI:C39932 xref: UMLS_CUI:C1515304 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:8365 name: obsolete inferior vena cava malignant neoplasm synonym: "malignant tumor of Inferior Vena Cava" EXACT [] is_obsolete: true [Term] id: DOID:8366 name: obsolete esophageal adenocarcinoma recurrent synonym: "relapsed adenocarcinoma of the esophagus" EXACT [] is_obsolete: true [Term] id: DOID:8368 name: chordoid meningioma def: "A meningioma that is characterized by the predominance of tissues that are histologically similar to chordoma." [url:https\://pubmed.ncbi.nlm.nih.gov/36692061/] subset: DO_rare_slim subset: NCIthesaurus synonym: "meningioma, chordoid" EXACT [] xref: ICDO:9538/1 xref: NCI:C6908 xref: SNOMEDCT_US_2023_03_01:57606003 xref: UMLS_CUI:C1370510 is_a: DOID:3565 ! meningioma [Term] id: DOID:8369 name: adult malignant schwannoma subset: NCIthesaurus synonym: "adult MPNST" EXACT [] xref: NCI:C7814 xref: UMLS_CUI:C0278622 is_a: DOID:5940 ! malignant peripheral nerve sheath tumor [Term] id: DOID:8376 name: obsolete mixed embryonal carcinoma and endodermal sinus neoplasm with seminoma of the testis synonym: "mixed Embryonal carcinoma and Yolk Sac tumor with Seminoma of testis" EXACT [] is_obsolete: true [Term] id: DOID:8381 name: obsolete ectopic calcitonin production synonym: "Ectopic calcitonin production (finding)" EXACT [] synonym: "Ectopic Calcitonin Secretion" EXACT [] is_obsolete: true [Term] id: DOID:8382 name: obsolete recurrent endometrial cancer synonym: "relapsed carcinoma of Endometrium" EXACT [] is_obsolete: true [Term] id: DOID:8386 name: obsolete ectopic chorionic gonadotropin secretion disease is_obsolete: true [Term] id: DOID:8387 name: obsolete metastatic non-cutaneous melanoma is_obsolete: true [Term] id: DOID:8388 name: obsolete mixed embryonal carcinoma and seminoma of the testis synonym: "mixed Embryonal carcinoma and Seminoma of testis" EXACT [] is_obsolete: true [Term] id: DOID:8389 name: lumbar plexus neoplasm subset: NCIthesaurus synonym: "tumor of Lumbar Plexus" EXACT [] xref: NCI:C5824 xref: UMLS_CUI:C1334437 is_a: DOID:4693 ! nerve plexus neoplasm [Term] id: DOID:8390 name: obsolete mixed choriocarcinoma and seminoma of the testis synonym: "mixed Choriocarcinoma and Seminoma of testis" EXACT [] is_obsolete: true [Term] id: DOID:8392 name: reticular pattern testicular yolk sac tumor subset: NCIthesaurus xref: NCI:C39923 xref: UMLS_CUI:C1515308 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:8394 name: adult type testicular granulosa cell tumor subset: NCIthesaurus xref: NCI:C39946 xref: UMLS_CUI:C1515284 is_a: DOID:5331 ! testicular granulosa cell tumor [Term] id: DOID:8398 name: osteoarthritis def: "An arthritis that has_material_basis_in worn out cartilage located_in joint." [url:http\://en.wikipedia.org/wiki/Osteoarthritis, url:http\://www.mayoclinic.com/health/osteoarthritis/DS00019, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000423.htm] comment: Xref MGI. synonym: "degenerative arthritis" EXACT [] synonym: "degenerative joint disease" EXACT [] synonym: "hypertrophic arthritis" EXACT [] synonym: "osteoarthrosis" EXACT [] synonym: "Osteoarthrosis and allied disorder" EXACT [] xref: ICD9CM:715.3 xref: UMLS_CUI:C0157946 is_a: DOID:848 ! arthritis property_value: exactMatch "MESH:D010003" xsd:string [Term] id: DOID:8399 name: trombiculiasis def: "A mite infestation that involves rash caused by Leptotrombidium deliense." [url:http\://en.wikipedia.org/wiki/Trombiculosis] subset: DO_infectious_disease_slim xref: MESH:D014323 xref: UMLS_CUI:C0041170 is_a: DOID:7894 ! mite infestation [Term] id: DOID:84 name: osteochondritis dissecans alt_id: DOID:87 def: "An ischemic bone disease that results_in necrosis located_in epiphysis." [url:http\://en.wikipedia.org/wiki/Osteochondritis_dissecans, url:http\://www.mayoclinic.com/health/osteochondritis-dissecans/DS00741] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "OCD" EXACT OMO:0003012 [] xref: GARD:12703 xref: ICD10CM:M93.2 xref: ICD10CM:M93.9 xref: ICD9CM:732.7 xref: MESH:D010007 xref: MESH:D010008 xref: MIM:165800 xref: NCI:C34877 xref: NCI:C34878 xref: SNOMEDCT_US_2023_03_01:156821002 xref: SNOMEDCT_US_2023_03_01:70736000 xref: UMLS_CUI:C0029420 xref: UMLS_CUI:C0029421 is_a: DOID:0080008 ! ischemic bone disease [Term] id: DOID:840 name: cork-handlers' disease def: "An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC470051/pdf/thorax00130-0009.pdf] synonym: "cork-handlers' disease or lung" EXACT [] synonym: "cork-handlers' lung" EXACT [] synonym: "Suberosis" EXACT [] xref: ICD10CM:J67.3 xref: ICD9CM:495.3 xref: SNOMEDCT_US_2023_03_01:13394002 xref: UMLS_CUI:C0152108 is_a: DOID:841 ! extrinsic allergic alveolitis [Term] id: DOID:8400 name: malignant cornea melanoma subset: NCIthesaurus synonym: "malignant Corneal melanoma" EXACT [] synonym: "malignant melanoma of cornea" EXACT [] xref: NCI:C4553 xref: SNOMEDCT_US_2023_03_01:255009006 xref: UMLS_CUI:C0346367 is_a: DOID:6199 ! cornea cancer [Term] id: DOID:8401 name: obsolete malignant hemangiopericytoma nonmetastatic synonym: "Non-metastatic malignant hemangiopericytoma" EXACT [] is_obsolete: true [Term] id: DOID:8408 name: Meckel's diverticulitis def: "A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth." [url:https\://en.wikipedia.org/wiki/Meckel's_diverticulum#Diverticulitis, url:https\://www.ncbi.nlm.nih.gov/pubmed/17021300, url:https\://www.ncbi.nlm.nih.gov/pubmed/17579156] subset: NCIthesaurus synonym: "Meckel diverticulitis" EXACT [] xref: NCI:C27300 xref: SNOMEDCT_US_2023_03_01:48241004 xref: UMLS_CUI:C0267497 is_a: DOID:7475 ! diverticulitis [Term] id: DOID:8409 name: microinvasive cervical squamous cell carcinoma def: "A cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5_mm and no wider than 7_mm diameter." [url:http\://www.pathologyoutlines.com/topic/cervixmicroinvasivescc.html] subset: NCIthesaurus xref: NCI:C36094 xref: UMLS_CUI:C1333370 is_a: DOID:3744 ! cervical squamous cell carcinoma [Term] id: DOID:841 name: extrinsic allergic alveolitis alt_id: DOID:2707 def: "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss." [url:http\://www.merck.com/mmhe/sec04/ch051/ch051b.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000109.htm] subset: DO_rare_slim subset: NCIthesaurus synonym: "alveolitis" EXACT [] synonym: "hypersensitivity pneumonitis" EXACT [] xref: GARD:12 xref: ICD10CM:J67.9 xref: ICD9CM:495 xref: MESH:D000542 xref: NCI:C34369 xref: SNOMEDCT_US_2023_03_01:155581001 xref: UMLS_CUI:C0002390 is_a: DOID:1205 ! allergic disease is_a: DOID:3082 ! interstitial lung disease [Term] id: DOID:8410 name: childhood kidney angiomyolipoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "pediatric renal Angiomyolipoma" EXACT [] xref: NCI:C6565 xref: UMLS_CUI:C1333000 is_a: DOID:8411 ! kidney angiomyolipoma [Term] id: DOID:8411 name: kidney angiomyolipoma subset: NCIthesaurus synonym: "Angiomyolipoma of kidney" EXACT [] synonym: "renal Angiomyolipoma" EXACT [] xref: NCI:C3888 xref: SNOMEDCT_US_2023_03_01:254921004 xref: UMLS_CUI:C0241961 is_a: DOID:3116 ! kidney benign neoplasm [Term] id: DOID:8413 name: obsolete recurrent extraskeletal osteosarcoma synonym: "relapsed extraskeletal Osteosarcoma" EXACT [] is_obsolete: true [Term] id: DOID:8415 name: carcinoma arising in nasal papillomatosis subset: NCIthesaurus xref: NCI:C27389 xref: UMLS_CUI:C1332840 is_a: DOID:4931 ! nasal cavity carcinoma [Term] id: DOID:8418 name: congenital fibrosarcoma subset: DO_cancer_slim subset: DO_childhood_cancer_slim subset: NCIthesaurus synonym: "Infantile fibrosarcoma" EXACT [] xref: NCI:C4244 xref: SNOMEDCT_US_2023_03_01:403996004 xref: UMLS_CUI:C0334459 is_a: DOID:0080015 ! physical disorder is_a: DOID:3520 ! childhood fibrosarcoma [Term] id: DOID:8419 name: colloid adenoma subset: NCIthesaurus synonym: "Macrofollicular adenoma" EXACT [] xref: NCI:C4161 xref: SNOMEDCT_US_2023_03_01:26545006 xref: UMLS_CUI:C0334329 is_a: DOID:6204 ! follicular adenoma [Term] id: DOID:8420 name: malignant glandular tumor of peripheral nerve sheath subset: NCIthesaurus synonym: "glandular MPNST" EXACT [] xref: NCI:C6560 xref: SNOMEDCT_US_2023_03_01:699659007 xref: UMLS_CUI:C1333821 is_a: DOID:5940 ! malignant peripheral nerve sheath tumor [Term] id: DOID:8426 name: follicular infundibulum tumor subset: NCIthesaurus synonym: "follicular infundibulum tumour" EXACT [] synonym: "neoplasm of the Follicular Infundibulum" EXACT [] synonym: "tumor of follicular infundibulum" EXACT [] synonym: "tumour of follicular infundibulum" EXACT [] xref: NCI:C4469 xref: SNOMEDCT_US_2023_03_01:254694002 xref: UMLS_CUI:C0346006 is_a: DOID:5375 ! hair follicle neoplasm [Term] id: DOID:8427 name: retinal melanoma subset: NCIthesaurus synonym: "malignant Retinal melanoma" EXACT [] xref: NCI:C8601 xref: SNOMEDCT_US_2023_03_01:423673009 xref: UMLS_CUI:C0853394 is_a: DOID:4645 ! retinal cancer [Term] id: DOID:8428 name: breast apocrine carcinoma in situ def: "A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast." [url:http\://surgpathcriteria.stanford.edu/breast/dcis/apocrinedcis.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/23771415, url:https\://www.ncbi.nlm.nih.gov/pubmed/25374127] subset: NCIthesaurus synonym: "Apocrine carcinoma in situ of the breast" EXACT [] xref: NCI:C5140 xref: UMLS_CUI:C1332315 is_a: DOID:8791 ! breast carcinoma in situ [Term] id: DOID:8429 name: obsolete testicular seminoma with syncytiotrophoblastic cells is_obsolete: true [Term] id: DOID:8431 name: physiological polycythemia subset: NCIthesaurus xref: NCI:C27311 xref: UMLS_CUI:C0856817 is_a: DOID:8432 ! polycythemia [Term] id: DOID:8432 name: polycythemia def: "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow." [url:https\://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera, url:https\://www.nhlbi.nih.gov/health-topics/polycythemia-vera] subset: NCIthesaurus synonym: "Erythrocythemia" EXACT [] xref: ICD10CM:D75.1 xref: MESH:D011086 xref: NCI:C26863 xref: SNOMEDCT_US_2023_03_01:127062003 xref: UMLS_CUI:C0032461 is_a: DOID:4961 ! bone marrow disease [Term] id: DOID:8433 name: thyroid malformation subset: NCIthesaurus xref: NCI:C27331 xref: UMLS_CUI:C0877367 is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:8435 name: obsolete Drug dependence complicating pregnancy, childbirth, or the puerperium alt_id: DOID:10227 alt_id: DOID:13136 alt_id: DOID:8434 synonym: "drug dependence of mother with delivery" EXACT [] synonym: "Drug dependence, antepartum" EXACT [] synonym: "postpartum drug dependence" EXACT [] synonym: "Pregnancy and drug dependence" EXACT [] synonym: "Pregnancy and drug dependence (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8437 name: intestinal obstruction subset: NCIthesaurus xref: ICD10CM:K56.609 xref: ICD9CM:560.9 xref: MESH:D007415 xref: NCI:C9175 xref: SNOMEDCT_US_2023_03_01:81060008 xref: UMLS_CUI:C0021843 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:8438 name: afferent loop syndrome def: "A postgastrectomy syndrome that is characterized by obstruction of the afferent loop that arises after gastric surgery with gastrojejunostomy reconstruction." [url:https\://pubmed.ncbi.nlm.nih.gov/32638230/, url:https\://www.ncbi.nlm.nih.gov/books/NBK546609/, url:https\://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=134&contentid=157] synonym: "Afferent limb syndrome" EXACT [] xref: MESH:D000343 xref: SNOMEDCT_US_2023_03_01:20813000 xref: UMLS_CUI:C0001727 is_a: DOID:8439 ! postgastrectomy syndrome property_value: exactMatch "MESH:D000343" xsd:string [Term] id: DOID:8439 name: postgastrectomy syndrome synonym: "Postgastric surgery syndrome" EXACT [] xref: ICD10CM:K91.1 xref: ICD9CM:564.2 xref: MESH:D011178 xref: SNOMEDCT_US_2023_03_01:266527005 xref: UMLS_CUI:C0032763 is_a: DOID:1159 ! functional gastric disease is_a: DOID:5295 ! intestinal disease [Term] id: DOID:844 name: obsolete chronic depressive disorder synonym: "chronic depression (disorder)" EXACT [] synonym: "chronic depressive personality disorder" EXACT [] is_obsolete: true [Term] id: DOID:8440 name: ileus subset: NCIthesaurus synonym: "Ileus of intestine" EXACT [] xref: MESH:D045823 xref: NCI:C37979 xref: SNOMEDCT_US_2023_03_01:278524008 xref: UMLS_CUI:C1258215 is_a: DOID:8437 ! intestinal obstruction [Term] id: DOID:8442 name: paralytic ileus subset: NCIthesaurus xref: ICD10CM:K56.0 xref: ICD9CM:560.1 xref: MESH:D007418 xref: NCI:C93045 xref: SNOMEDCT_US_2023_03_01:155773004 xref: UMLS_CUI:C0030446 is_a: DOID:8437 ! intestinal obstruction [Term] id: DOID:8443 name: brachial plexus lesion def: "A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus." [url:http\://en.wikipedia.org/wiki/Brachial_plexus_injury, url:http\://www.nlm.nih.gov/medlineplus/brachialplexusinjuries.html] synonym: "Brachial plexus lesions" EXACT [] xref: ICD9CM:353.0 xref: SNOMEDCT_US_2023_03_01:3548001 xref: UMLS_CUI:C0006091 is_a: DOID:3690 ! brachial plexus neuropathy [Term] id: DOID:8444 name: obsolete nerve root and plexus disorder is_obsolete: true [Term] id: DOID:8445 name: intestinal volvulus def: "An intestinal obstruction characterized by abnormal rotation of the intestines." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20549505] subset: NCIthesaurus synonym: "familial intestinal malrotation" EXACT [] synonym: "Twist of intestine, bowel, or colon" EXACT [] synonym: "Volvulus" EXACT [] synonym: "volvulus of midgut" EXACT [] xref: ICD10CM:K56.2 xref: ICD9CM:560.2 xref: MESH:D045822 xref: MIM:193250 xref: NCI:C98963 xref: SNOMEDCT_US_2023_03_01:9707006 xref: UMLS_CUI:C0042961 is_a: DOID:8437 ! intestinal obstruction [Term] id: DOID:8446 name: intussusception comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Intussusception of intestine" EXACT [] synonym: "Invagination of intestine or colon" EXACT [] xref: ICD10CM:K56.1 xref: ICD9CM:560.0 xref: MESH:D007443 xref: MIM:147710 xref: NCI:C113484 xref: SNOMEDCT_US_2023_03_01:155772009 xref: UMLS_CUI:C0021933 is_a: DOID:8437 ! intestinal obstruction [Term] id: DOID:8448 name: intestinal impaction xref: ICD10CM:K56.4 xref: ICD9CM:560.39 xref: SNOMEDCT_US_2023_03_01:197540000 xref: UMLS_CUI:C0029640 is_a: DOID:8437 ! intestinal obstruction [Term] id: DOID:8449 name: obsolete vitamin B deficiency is_obsolete: true [Term] id: DOID:845 name: cyclothymic disorder def: "A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes." [url:http\://en.wikipedia.org/wiki/Mood_disorder] synonym: "Affective personality disorder" EXACT [] synonym: "Cycloid personality" EXACT [] synonym: "Cyclothymia" EXACT [] synonym: "Cyclothymic personality" EXACT [] xref: ICD10CM:F34.0 xref: ICD9CM:301.13 xref: MESH:D003527 xref: SNOMEDCT_US_2023_03_01:191754000 xref: UMLS_CUI:C0010598 is_a: DOID:3312 ! bipolar disorder [Term] id: DOID:8451 name: obsolete vitamin deficiency alt_id: DOID:8450 is_obsolete: true [Term] id: DOID:8452 name: obsolete malnutrition is_obsolete: true [Term] id: DOID:8453 name: obsolete folic acid deficiency synonym: "deficiency of folic acid (disorder)" EXACT [] synonym: "folate deficiency" EXACT [] synonym: "Folic acid deficiency" EXACT [] synonym: "Folic acid deficiency (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8454 name: riboflavin deficiency def: "A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis." [url:https\://www.ncbi.nlm.nih.gov/books/NBK470460/] synonym: "ariboflavinosis" EXACT [] synonym: "vitamin B2 deficiency" EXACT [] xref: ICD10CM:E53.0 xref: ICD9CM:266.0 xref: MESH:D012257 xref: SNOMEDCT_US_2023_03_01:20307000 xref: UMLS_CUI:C0035528 is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:8455 name: pyridoxine deficiency anemia def: "A nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and has_material_basis_in decreased intake, malabsorption, increased clearance or breakdown, and certain medications (eg isoniazid)." [url:https\://www.ncbi.nlm.nih.gov/books/NBK470579/] subset: NCIthesaurus synonym: "vitamin B6 deficiency syndrome" EXACT [] xref: ICD10CM:E53.1 xref: ICD9CM:266.1 xref: MESH:D026681 xref: NCI:C85221 xref: SNOMEDCT_US_2023_03_01:18881008 xref: UMLS_CUI:C0936215 is_a: DOID:2355 ! anemia is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:8456 name: choline deficiency disease def: "A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319504/] synonym: "choline deficiency" EXACT [] xref: MESH:D002796 xref: SNOMEDCT_US_2023_03_01:238113006 xref: UMLS_CUI:C0008412 is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:8457 name: pellagra def: "A nutritional deficiency disease that is characterized by deficiency of niacin (vitamin B3), has_symptom gastrointestinal disturbance, anorexia, diarrhea, dementia, hallucinations, depression, psychosis, and/or non-specific skin changes, and has_material_basis_in deficiency of niacin, often from inadequate diet, malabsorption, or medication side effects." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16207585] subset: DO_rare_slim synonym: "Niacin deficiency" EXACT [] synonym: "Niacin-tryptophan deficiency" EXACT [] xref: GARD:10014 xref: ICD9CM:265.2 xref: MESH:D010383 xref: SNOMEDCT_US_2023_03_01:267491008 xref: UMLS_CUI:C0030783 is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:8458 name: obsolete Thiamine and niacin deficiency state is_obsolete: true [Term] id: DOID:8459 name: obsolete vitamin B 12 deficiency synonym: "Cobalamin deficiency (disorder)" EXACT [] synonym: "deficiency of vitamin B>12< (disorder)" EXACT [] synonym: "vitamin B 12 deficiency" EXACT [] synonym: "vitamin B12 deficiency" EXACT [] is_obsolete: true [Term] id: DOID:846 name: obsolete arthropathy associated with hematological disorder is_obsolete: true [Term] id: DOID:8461 name: Aicardi syndrome def: "A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye." [url:http\://en.wikipedia.org/wiki/Aicardi_syndrome, url:http\://ghr.nlm.nih.gov/condition/aicardi-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5764 xref: MESH:D058540 xref: MIM:304050 xref: NCI:C35256 xref: ORDO:50 xref: SNOMEDCT_US_2023_03_01:80651009 xref: UMLS_CUI:C0175713 is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:D058540" xsd:string [Term] id: DOID:8463 name: corneal ulcer subset: NCIthesaurus xref: ICD10CM:H16.0 xref: ICD9CM:370.0 xref: MESH:D003320 xref: NCI:C50515 xref: SNOMEDCT_US_2023_03_01:193758008 xref: UMLS_CUI:C0010043 is_a: DOID:4677 ! keratitis [Term] id: DOID:8464 name: flat retinoschisis xref: ICD9CM:361.11 xref: SNOMEDCT_US_2023_03_01:193332006 xref: UMLS_CUI:C0154817 is_a: DOID:8465 ! retinoschisis [Term] id: DOID:8465 name: retinoschisis subset: NCIthesaurus xref: ICD10CM:H33.10 xref: ICD9CM:361.10 xref: MESH:D041441 xref: NCI:C85046 xref: SNOMEDCT_US_2023_03_01:389992006 xref: UMLS_CUI:C0152439 is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:8466 name: retinal degeneration def: "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina." [url:https\://en.wikipedia.org/wiki/Retinal_degeneration_(rhodopsin_mutation)] subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "degeneration of retina" EXACT [] xref: MESH:D012162 xref: NCI:C34979 xref: SNOMEDCT_US_2023_03_01:95695004 xref: UMLS_CUI:C0035304 is_a: DOID:5679 ! retinal disease is_a: DOID:9799 ! eye degenerative disease [Term] id: DOID:8467 name: obsolete Retinoschisis and retinal cysts is_obsolete: true [Term] id: DOID:8469 name: influenza alt_id: DOID:8468 def: "A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness." [url:http\://www.merck.com/mmhe/sec17/ch198/ch198d.html, url:http\://www.who.int/mediacentre/factsheets/2003/fs211/en/] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "flu" EXACT [] synonym: "influenza with non-respiratory manifestation" EXACT [] synonym: "Influenza with other manifestations" EXACT [] xref: ICD10CM:J11.1 xref: ICD9CM:487 xref: MESH:D007251 xref: NCI:C53482 xref: SNOMEDCT_US_2023_03_01:155559006 xref: UMLS_CUI:C0021400 is_a: DOID:1579 ! respiratory system disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:8472 name: localized scleroderma subset: DO_rare_slim subset: NCIthesaurus synonym: "circumscribed scleroderma" EXACT [] synonym: "localised morphea" EXACT [] synonym: "localised morphoea" EXACT [] synonym: "localised scleroderma" EXACT [] synonym: "localized morphea" EXACT [] synonym: "Morphea" EXACT [] synonym: "Scleroderma, circumscribed or localised" EXACT [] synonym: "Scleroderma, circumscribed or localized" EXACT [] xref: GARD:7058 xref: ICD10CM:L94.0 xref: ICD9CM:701.0 xref: MESH:D012594 xref: NCI:C72069 xref: SNOMEDCT_US_2023_03_01:90424004 xref: UMLS_CUI:C0036420 is_a: DOID:419 ! scleroderma [Term] id: DOID:8476 name: Whipple disease subset: DO_rare_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "intestinal lipodystrophy" EXACT [] synonym: "Whipple's disease" EXACT [] xref: GARD:7889 xref: ICD10CM:K90.81 xref: ICD9CM:040.2 xref: MESH:D008061 xref: NCI:C85228 xref: SNOMEDCT_US_2023_03_01:41545003 xref: UMLS_CUI:C0023788 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:8477 name: obsolete malabsorption syndrome is_obsolete: true [Term] id: DOID:8478 name: actinomycosis alt_id: DOID:0050000 alt_id: DOID:13079 def: "A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures." [url:http\://en.wikipedia.org/wiki/Actinomycosis] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "actinomycetoma" RELATED [] synonym: "actinomycotic infection" EXACT [] synonym: "Actinomycotic madura foot" EXACT [] synonym: "Actinomycotic mycetema" EXACT [] synonym: "Actinomycotic mycetoma of foot" EXACT [] synonym: "Madura foot due to Actinomadura" EXACT [] xref: GARD:5728 xref: ICD10CM:A42 xref: ICD9CM:039.9 xref: MESH:D000196 xref: NCI:C34350 xref: SNOMEDCT_US_2023_03_01:50508009 xref: UMLS_CUI:C0001261 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:1579 ! respiratory system disease property_value: exactMatch "MESH:D000196" xsd:string [Term] id: DOID:848 name: arthritis def: "A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint." [url:http\://en.wikipedia.org/wiki/Arthritis, url:http\://www.arthritis.org/, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001243.htm, url:https\://www.cdc.gov/arthritis/index.htm] {comment="ls:IEDB"} subset: NCIthesaurus synonym: "Inflammatory disorder of joint" EXACT [] xref: ICD10CM:M19.90 xref: MESH:D001168 xref: NCI:C2883 xref: SNOMEDCT_US_2023_03_01:372091005 xref: UMLS_CUI:C0003864 is_a: DOID:3342 ! bone inflammation disease property_value: exactMatch "MESH:D001168" xsd:string [Term] id: DOID:8481 name: rheumatic myocarditis alt_id: DOID:14025 alt_id: DOID:14036 subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "active rheumatic fever with myocarditis" EXACT [] synonym: "acute rheumatic carditis" EXACT [] synonym: "acute rheumatic myocarditis" EXACT [] synonym: "Rheumatic degeneration of myocardium" EXACT [] synonym: "Rheumatic fever with myocarditis" EXACT [] synonym: "Rheumatoid myocarditis" EXACT [] xref: ICD10CM:I01.9 xref: ICD10CM:M05.3 xref: ICD9CM:391.9 xref: ICD9CM:398.0 xref: NCI:C34985 xref: SNOMEDCT_US_2023_03_01:195136004 xref: SNOMEDCT_US_2023_03_01:8805001 xref: UMLS_CUI:C0035440 xref: UMLS_CUI:C0489959 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:820 ! myocarditis [Term] id: DOID:8482 name: transient retinal arterial occlusion subset: NCIthesaurus synonym: "Retinal transient arterial occlusion" EXACT [] synonym: "Transient arterial retinal occlusion" EXACT [] xref: ICD10CM:H34.0 xref: ICD9CM:362.34 xref: NCI:C35193 xref: SNOMEDCT_US_2023_03_01:87224000 xref: UMLS_CUI:C0154840 is_a: DOID:8483 ! retinal artery occlusion [Term] id: DOID:8483 name: retinal artery occlusion subset: NCIthesaurus xref: MESH:D015356 xref: NCI:C34978 xref: SNOMEDCT_US_2023_03_01:232035005 xref: UMLS_CUI:C0035302 is_a: DOID:0050828 ! artery disease is_a: DOID:1729 ! retinal vascular occlusion [Term] id: DOID:8484 name: maple bark strippers' lung def: "An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2735559] subset: DO_infectious_disease_slim synonym: "alveolitis due to cryptostroma corticale" EXACT [] synonym: "maple bark disease" EXACT [] synonym: "maple bark stripper's disease" EXACT [] synonym: "maple bark stripper's lung" EXACT [] synonym: "Maple bark-strippers' lung" EXACT [] synonym: "Maple-bark strippers' lung" EXACT [] xref: ICD10CM:J67.6 xref: ICD9CM:495.6 xref: SNOMEDCT_US_2023_03_01:86638007 xref: UMLS_CUI:C0155890 is_a: DOID:2473 ! opportunistic mycosis is_a: DOID:850 ! lung disease [Term] id: DOID:8485 name: mucormycosis alt_id: DOID:0050087 alt_id: DOID:0050595 alt_id: DOID:8486 def: "An opportunistic mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000649.htm] subset: DO_infectious_disease_slim synonym: "disseminated mucormycosis" EXACT [] synonym: "zygomycosis" EXACT [] xref: MESH:D009091 is_a: DOID:2473 ! opportunistic mycosis [Term] id: DOID:8487 name: obsolete secondary retinal cyst synonym: "secondary retinal cyst (disorder)" EXACT [] synonym: "secondary retinal cysts" EXACT [] synonym: "secondary retinal cysts (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8488 name: polyhydramnios def: "A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac." [url:http\://en.wikipedia.org/wiki/Polyhydramnios] subset: NCIthesaurus xref: ICD10CM:O40 xref: ICD9CM:657.0 xref: MESH:D006831 xref: NCI:C92848 xref: SNOMEDCT_US_2023_03_01:157052008 xref: UMLS_CUI:C0020224 is_a: DOID:780 ! placenta disease [Term] id: DOID:8489 name: obsolete disorder of amniotic fluid and membranes is_obsolete: true [Term] id: DOID:849 name: rheumatoid arthritis interstitial lung disease def: "An interstitial lung disease that is characterized by the development of pleuroparenchymal disease secondary to rheumatoid arthritis, including pleural effusions, pleural fibrosis, pulmonary vascular disease, and airway complications." [url:https\://err.ersjournals.com/content/30/160/210011, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2647595/, url:https\://www.ncbi.nlm.nih.gov/pubmed/29119259] synonym: "Rheumatoid lung" EXACT [] xref: ICD9CM:714.81 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:3082 ! interstitial lung disease [Term] id: DOID:8490 name: obsolete primary hypotonic uterine dysfunction alt_id: DOID:8496 alt_id: DOID:8497 synonym: "antepartum primary uterine inertia" EXACT [] synonym: "primary uterine inertia - delivered" EXACT [] synonym: "primary uterine inertia - delivered (disorder)" EXACT [] synonym: "primary uterine inertia, with delivery" EXACT [] is_obsolete: true [Term] id: DOID:8491 name: obsolete Prolonged first stage of labor is_obsolete: true [Term] id: DOID:8493 name: obsolete abnormality of forces of labor is_obsolete: true [Term] id: DOID:8494 name: obsolete dystocia is_obsolete: true [Term] id: DOID:8495 name: obsolete prolonged labor is_obsolete: true [Term] id: DOID:8498 name: hereditary night blindness comment: OMIM mapping confirmed by DO. [SN]. synonym: "Congenital night blindness" EXACT [] xref: ICD10CM:H53.63 xref: ICD9CM:368.61 xref: MESH:C537743 xref: SNOMEDCT_US_2023_03_01:193687000 xref: UMLS_CUI:C1306122 is_a: DOID:8499 ! night blindness [Term] id: DOID:8499 name: night blindness def: "A retinal disease that is characterized by difficulty or the inability to see in relatively low light." [url:https\://en.wikipedia.org/wiki/Nyctalopia] subset: NCIthesaurus synonym: "nyctalopia" EXACT [] xref: ICD10CM:H53.6 xref: ICD9CM:368.6 xref: MESH:D009755 xref: NCI:C34850 xref: SNOMEDCT_US_2023_03_01:75390007 xref: UMLS_CUI:C0028077 is_a: DOID:5679 ! retinal disease [Term] id: DOID:850 name: lung disease alt_id: DOID:11894 alt_id: DOID:11895 alt_id: DOID:29 alt_id: DOID:766 def: "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide." [url:http\://www.niehs.nih.gov/health/topics/conditions/lung-disease/index.cfm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000066.htm] comment: Updating out dated CUI and removing lung abscess as a synonym. subset: DO_RAD_slim subset: NCIthesaurus xref: ICD10CM:J98.4 xref: MESH:D008171 xref: NCI:C3198 xref: SNOMEDCT_US_2023_03_01:266374002 xref: UMLS_CUI:C0024115 is_a: DOID:0050161 ! lower respiratory tract disease [Term] id: DOID:8500 name: hereditary retinal dystrophy subset: NCIthesaurus xref: ICD10CM:H35.5 xref: ICD9CM:362.7 xref: NCI:C35194 xref: SNOMEDCT_US_2023_03_01:41799005 xref: UMLS_CUI:C0154860 is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:8501 name: fundus dystrophy subset: NCIthesaurus synonym: "Retinal Dystrophy" EXACT [] xref: MESH:D058499 xref: NCI:C35625 xref: SNOMEDCT_US_2023_03_01:314407005 xref: UMLS_CUI:C0854723 is_a: DOID:5614 ! eye disease [Term] id: DOID:8502 name: bullous skin disease def: "A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested." [url:http\://en.wikipedia.org/wiki/Dermatitis_herpetiformis] is_a: DOID:2723 ! dermatitis [Term] id: DOID:8503 name: impetigo herpetiformis def: "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy." [url:http\://en.wikipedia.org/wiki/Impetigo_herpetiformis] subset: gram-positive_bacterial_infectious_disease xref: ICD10CM:L40.1 xref: ICD9CM:694.3 xref: SNOMEDCT_US_2023_03_01:200973000 xref: UMLS_CUI:C1314968 is_a: DOID:8504 ! impetigo [Term] id: DOID:8504 name: impetigo def: "A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous." [url:https\://www.mayoclinic.org/diseases-conditions/impetigo/symptoms-causes/syc-20352352] subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus xref: ICD10CM:L01.0 xref: ICD9CM:684 xref: MESH:D007169 xref: NCI:C99088 xref: SNOMEDCT_US_2023_03_01:156319000 xref: UMLS_CUI:C0021099 is_a: DOID:4223 ! pyoderma [Term] id: DOID:8505 name: dermatitis herpetiformis subset: DO_rare_slim subset: NCIthesaurus synonym: "Dermatosis herpetiformis" EXACT [] synonym: "Duhring's disease" EXACT [] xref: GARD:1917 xref: ICD10CM:L13.0 xref: ICD9CM:694.0 xref: MESH:D003874 xref: NCI:C26742 xref: SNOMEDCT_US_2023_03_01:200899006 xref: UMLS_CUI:C0011608 is_a: DOID:8502 ! bullous skin disease [Term] id: DOID:8506 name: bullous pemphigoid def: "A pemphigoid that is characterized by large blisters." [url:https\://rarediseases.org/rare-diseases/bullous-pemphigoid/] {comment="sn:IEDB"} subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5972 xref: ICD10CM:L12.0 xref: ICD9CM:694.5 xref: MESH:D010391 xref: NCI:C84389 xref: SNOMEDCT_US_2023_03_01:77090002 xref: UMLS_CUI:C0030805 is_a: DOID:0080841 ! pemphigoid [Term] id: DOID:8507 name: juvenile dermatitis herpetiformis xref: ICD10CM:L12.2 xref: ICD9CM:694.2 xref: SNOMEDCT_US_2023_03_01:267799009 xref: UMLS_CUI:C0152092 is_a: DOID:8505 ! dermatitis herpetiformis [Term] id: DOID:8508 name: subcorneal pustular dermatosis synonym: "Sneddon-Wilkinson disease or syndrome" EXACT [] xref: ICD10CM:L13.1 xref: ICD9CM:694.1 xref: MESH:D012872 xref: SNOMEDCT_US_2023_03_01:25147002 xref: UMLS_CUI:C0600336 is_a: DOID:8502 ! bullous skin disease [Term] id: DOID:851 name: Bartholin's duct cyst def: "A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12887119] subset: NCIthesaurus synonym: "Bartholin duct cyst" EXACT [] synonym: "Bartholin's Cyst" EXACT [] synonym: "Cyst of Bartholin's gland" EXACT [] synonym: "Cyst of Bartholin's gland duct" EXACT [] xref: ICD10CM:N75.0 xref: ICD9CM:616.2 xref: NCI:C26706 xref: SNOMEDCT_US_2023_03_01:57044006 xref: UMLS_CUI:C0004767 is_a: DOID:60002 ! Bartholin's gland disease [Term] id: DOID:8512 name: puerperal pulmonary embolism xref: ICD10CM:O88.21 xref: ICD9CM:673 xref: SNOMEDCT_US_2023_03_01:237341004 xref: UMLS_CUI:C0157540 is_a: DOID:9477 ! pulmonary embolism [Term] id: DOID:8514 name: acute pulmonary heart disease xref: ICD10CM:I26.09 xref: ICD9CM:415 xref: SNOMEDCT_US_2023_03_01:155324005 xref: UMLS_CUI:C0155671 is_a: DOID:8515 ! Cor pulmonale [Term] id: DOID:8515 name: Cor pulmonale def: "A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs." [url:http\://en.wikipedia.org/wiki/Cor_pulmonale, url:http\://en.wikipedia.org/wiki/Heart_disease] synonym: "cardiopulmonary disease" EXACT [] synonym: "pulmonary heart disease" EXACT [] xref: ICD10CM:I27.81 xref: MESH:D011660 xref: SNOMEDCT_US_2023_03_01:83291003 xref: UMLS_CUI:C0034072 is_a: DOID:6000 ! congestive heart failure [Term] id: DOID:8516 name: pulmonary embolism and infarction xref: ICD9CM:415.1 xref: SNOMEDCT_US_2023_03_01:1001000119102 xref: UMLS_CUI:C0034066 is_a: DOID:8514 ! acute pulmonary heart disease [Term] id: DOID:8517 name: acute cor pulmonale xref: ICD10CM:I26.09 xref: ICD9CM:415 xref: SNOMEDCT_US_2023_03_01:155324005 xref: UMLS_CUI:C0155671 is_a: DOID:8514 ! acute pulmonary heart disease [Term] id: DOID:8519 name: barbiturate abuse def: "A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences." [url:http\://en.wikipedia.org/wiki/Barbiturate] xref: ICD10CM:F13.11 xref: ICD9CM:305.43 xref: UMLS_CUI:C0154529 is_a: DOID:302 ! substance abuse [Term] id: DOID:8521 name: obsolete recurrent manic episodes is_obsolete: true [Term] id: DOID:8523 name: obsolete nodular lymphoma involving lymph nodes of axilla and upper limb synonym: "nodular lymphoma of lymph nodes of axilla and upper limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8524 name: obsolete nodular lymphoma alt_id: DOID:8603 comment: OMIM mapping confirmed by DO. [SN]. synonym: "Follicle Center Lymphoma" EXACT [] synonym: "Follicular low grade B-cell lymphoma (disorder)" EXACT [] synonym: "follicular lymphoma" EXACT [] synonym: "Follicular non-Hodgkin's lymphoma (disorder)" EXACT [] synonym: "Giant follicular lymphosarcoma" EXACT [] synonym: "malignant lymphoma, follicle centre" EXACT [] synonym: "malignant lymphoma, nodular NOS (morphologic abnormality)" EXACT [] synonym: "nodular lymphoma (Brill - Symmers disease)" EXACT [] is_obsolete: true [Term] id: DOID:8525 name: obsolete nodular lymphoma involving intra-abdominal lymph nodes is_obsolete: true [Term] id: DOID:8527 name: monocytic leukemia alt_id: DOID:8526 alt_id: DOID:8809 alt_id: DOID:8884 alt_id: DOID:8935 alt_id: DOID:9151 def: "A myeloid leukemia that is characterized by a dominance of monocytes in the marrow." [url:https\://en.wikipedia.org/wiki/Monocytic_leukemia] synonym: "monocytic leukaemia" EXACT [] synonym: "Schilling's leukaemia" EXACT [] synonym: "Schilling's leukemia" EXACT [] xref: ICD10CM:C93.Z xref: ICD9CM:206.8 xref: SNOMEDCT_US_2023_03_01:188747004 xref: UMLS_CUI:C0153903 is_a: DOID:8692 ! myeloid leukemia [Term] id: DOID:8529 name: ulcer of lower limbs alt_id: DOID:8528 alt_id: DOID:8610 alt_id: DOID:8655 alt_id: DOID:9034 alt_id: DOID:9086 alt_id: DOID:9200 alt_id: DOID:9237 def: "A chronic ulcer of skin where the ulcer is not a decubitus ulcer." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ulcer] synonym: "Ulcer of ankle" EXACT [] synonym: "Ulcer of calf" EXACT [] synonym: "Ulcer of heel and midfoot" EXACT [] synonym: "Ulcer of thigh" EXACT [] is_a: DOID:8549 ! chronic ulcer of skin [Term] id: DOID:853 name: polymyalgia rheumatica def: "A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck." [url:https\://medlineplus.gov/polymyalgiarheumatica.html] subset: NCIthesaurus xref: ICD10CM:M35.3 xref: ICD9CM:725 xref: MESH:D011111 xref: NCI:C85018 xref: SNOMEDCT_US_2023_03_01:202834009 xref: UMLS_CUI:C0032533 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:854 ! collagen disease [Term] id: DOID:8530 name: obsolete toxic gastroenteritis and colitis is_obsolete: true [Term] id: DOID:8533 name: hypopharynx cancer alt_id: DOID:12202 alt_id: DOID:8532 alt_id: DOID:9160 def: "A pharynx cancer that is located_in the hypopharynx." [url:http\://en.wikipedia.org/wiki/Hypopharynx] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Hypopharyngeal cancer" EXACT [] synonym: "malignant Hypopharyngeal tumor" EXACT [] synonym: "malignant neoplasm of hypopharynx" EXACT [] synonym: "malignant tumor of hypopharynx" EXACT [] synonym: "malignant tumour of hypopharynx" EXACT [] xref: GARD:9334 xref: ICD10CM:C13 xref: ICD10CM:C13.2 xref: ICD9CM:148 xref: ICD9CM:148.3 xref: MESH:D007012 xref: NCI:C7190 xref: SNOMEDCT_US_2023_03_01:93831006 xref: SNOMEDCT_US_2023_03_01:93968005 xref: UMLS_CUI:C0153398 xref: UMLS_CUI:C0496770 is_a: DOID:0060119 ! pharynx cancer [Term] id: DOID:8534 name: gastroesophageal reflux disease comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Acid reflux" EXACT [] synonym: "Gastresophageal reflux" EXACT [] synonym: "Gastro-esophageal reflux" EXACT [] synonym: "Gastroesophageal reflux" EXACT [] synonym: "GERD" EXACT OMO:0003012 [] synonym: "GERD - Gastro-esophageal reflux disease" EXACT [] xref: ICD10CM:K21.9 xref: ICD9CM:530.81 xref: MESH:D005764 xref: MIM:109350 xref: NCI:C26781 xref: SNOMEDCT_US_2023_03_01:235595009 xref: UMLS_CUI:C0017168 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:8535 name: obsolete ophthalmic herpes zoster alt_id: DOID:9101 def: "A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection." [url:http\://emedicine.medscape.com/article/783223-overview] synonym: "Herpes zoster ophthalmicus" EXACT [] synonym: "Herpes zoster ophthalmicus (disorder)" EXACT [] synonym: "Herpes zoster with ophthalmic complication (disorder)" EXACT [] synonym: "Herpes zoster with other ophthalmic complication (disorder)" EXACT [] synonym: "herpes zoster with other ophthalmic complications" EXACT [] synonym: "Ophthalmic herpes zoster infection" EXACT [] is_obsolete: true [Term] id: DOID:8536 name: herpes zoster alt_id: DOID:8554 alt_id: DOID:8555 alt_id: DOID:8772 alt_id: DOID:8801 alt_id: DOID:9085 def: "A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia." [url:http\://en.wikipedia.org/wiki/Herpes_zoster, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000858.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "herpes zona" EXACT [] synonym: "Shingles" EXACT [] xref: ICD10CM:B02 xref: ICD9CM:053 xref: MESH:D006562 xref: NCI:C71079 xref: SNOMEDCT_US_2023_03_01:186514003 xref: UMLS_CUI:C0019360 is_a: DOID:863 ! nervous system disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:8538 name: reticulosarcoma alt_id: DOID:8537 comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "histiocytic lymphoma" EXACT [] synonym: "large-cell Lymphomas" EXACT [] xref: ICD9CM:200.0 xref: MESH:D008228 xref: MIM:267730 xref: NCI:C27824 xref: SNOMEDCT_US_2023_03_01:154579006 xref: UMLS_CUI:C0024302 is_a: DOID:0060073 ! lymphatic system cancer [Term] id: DOID:8539 name: obsolete recurrent manic episodes in full remission synonym: "Manic disorder, recurrent episode, in full remission" EXACT [] synonym: "recurrent manic episodes, in full remission (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:854 name: collagen disease def: "A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen." [url:https\://en.wikipedia.org/wiki/Connective_tissue_disease] subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "collagen disorder" EXACT [] xref: MESH:D003095 xref: NCI:C27204 xref: SNOMEDCT_US_2023_03_01:268048008 xref: UMLS_CUI:C0009326 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:8540 name: obsolete Sezary's disease involving lymph nodes of head, face, and neck synonym: "Sezary's disease involving lymph nodes of head, face and neck" EXACT [] synonym: "Sezary's disease of lymph nodes of head, face and neck (disorder)" EXACT [] synonym: "Szary's disease of lymph nodes of head, face and/or neck (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8541 name: Sezary's disease alt_id: DOID:8790 subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Sezary disease" EXACT [] synonym: "Sezary syndrome" EXACT [] xref: GARD:7629 xref: ICD10CM:C84.1 xref: ICD9CM:202.2 xref: MESH:D012751 xref: NCI:C3366 xref: SNOMEDCT_US_2023_03_01:4950009 xref: UMLS_CUI:C0036920 is_a: DOID:0060061 ! primary cutaneous T-cell non-Hodgkin lymphoma [Term] id: DOID:8542 name: obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb" RELATED [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and upper limb (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and/or upper limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8543 name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance subset: NCIthesaurus synonym: "Hodgkin lymphoma, lymphocyte-rich" EXACT [] synonym: "Hodgkin lymphoma, lymphocytic-histiocytic predominance" EXACT [] synonym: "Hodgkin's disease, lymphocyte predominance" EXACT [] synonym: "Lymphocyte Rich Hodgkin's disease" EXACT [] xref: ICD10CM:C81.4 xref: ICD9CM:201.4 xref: MESH:D006689 xref: NCI:C6913 xref: SNOMEDCT_US_2023_03_01:128799007 xref: UMLS_CUI:C1266194 is_a: DOID:8567 ! Hodgkin's lymphoma [Term] id: DOID:8544 name: chronic fatigue syndrome def: "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions." [url:http\://en.wikipedia.org/wiki/Chronic_fatigue_syndrome] comment: No OMIM mapping, confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "CFS" EXACT OMO:0003012 [] synonym: "Myalgic encephalitis" EXACT [] synonym: "Myalgic encephalomyelitis" EXACT [] synonym: "Postviral fatigue syndrome" EXACT [] xref: GARD:7121 xref: ICD10CM:G93.32 xref: ICD9CM:780.71 xref: MESH:D015673 xref: NCI:C3037 xref: SNOMEDCT_US_2023_03_01:193054000 xref: UMLS_CUI:C0015674 is_a: DOID:225 ! syndrome [Term] id: DOID:8545 name: malignant hyperthermia def: "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine)." [url:http\://en.wikipedia.org/wiki/Malignant_hyperthermia] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "anesthesia related hyperthermia" EXACT [] synonym: "malignant hyperpyrexia due to anesthesia" EXACT [] xref: GARD:6964 xref: ICD10CM:T88.3 xref: ICD9CM:995.86 xref: MESH:D008305 xref: MIM:PS145600 xref: NCI:C84869 xref: ORDO:423 xref: SNOMEDCT_US_2023_03_01:111738008 xref: UMLS_CUI:C0024591 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:66 ! muscle tissue disease [Term] id: DOID:8549 name: chronic ulcer of skin alt_id: DOID:8548 alt_id: DOID:8733 synonym: "Callous ulcer" EXACT [] synonym: "Indolent ulcer" EXACT [] xref: ICD10CM:L98.4 xref: ICD9CM:707 xref: SNOMEDCT_US_2023_03_01:156423009 xref: UMLS_CUI:C0157738 is_a: DOID:37 ! skin disease [Term] id: DOID:8552 name: chronic myeloid leukemia alt_id: DOID:8551 alt_id: DOID:8606 def: "A myeloid leukemia that is characterized by over production of white blood cells." [url:http\://www.cancer.gov/dictionary?CdrID=46755] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_RAD_slim subset: DO_rare_slim synonym: "chronic granulocytic leukaemia" EXACT [] synonym: "chronic granulocytic leukemia" EXACT [] synonym: "chronic myelogenous leukaemia" EXACT [] synonym: "chronic myelogenous leukemia" EXACT [] synonym: "chronic myeloid leukaemia" EXACT [] synonym: "CML" EXACT OMO:0003012 [] synonym: "CML - chronic Myelogenous Leukemia" EXACT [] synonym: "Myeloid Leukemia, chronic" EXACT [] xref: EFO:0000339 xref: GARD:6105 xref: ICD9CM:205.1 xref: ICDO:9863/3 xref: KEGG:05220 xref: MIM:608232 xref: ORDO:521 xref: SNOMEDCT_US_2023_03_01:154592009 xref: UMLS_CUI:C0023473 is_a: DOID:8692 ! myeloid leukemia [Term] id: DOID:8553 name: pyoderma gangrenosum subset: DO_rare_slim xref: GARD:7510 xref: ICD10CM:L88 xref: ICD9CM:686.01 xref: MESH:D017511 xref: SNOMEDCT_US_2023_03_01:74578003 xref: UMLS_CUI:C0085652 is_a: DOID:4223 ! pyoderma property_value: exactMatch "MESH:D017511" xsd:string [Term] id: DOID:8556 name: vallecula cancer synonym: "malignant tumor of vallecula" EXACT [] xref: ICD10CM:C10.0 xref: ICD9CM:146.3 xref: SNOMEDCT_US_2023_03_01:94132005 xref: UMLS_CUI:C0153386 is_a: DOID:8557 ! oropharynx cancer [Term] id: DOID:8557 name: oropharynx cancer alt_id: DOID:8684 alt_id: DOID:8851 alt_id: DOID:8949 alt_id: DOID:9168 def: "A pharynx cancer that is located_in the oropharynx." [url:http\://www.cancer.gov/dictionary?CdrID=446523] subset: DO_cancer_slim subset: NCIthesaurus synonym: "malignant Oropharyngeal tumor" EXACT [] synonym: "malignant tumor of oropharynx" EXACT [] synonym: "malignant tumour of mesopharynx" EXACT [] synonym: "oropharyngeal cancer" EXACT [] synonym: "Oropharyngeal carcinoma" EXACT [] xref: ICD10CM:C10 xref: ICD10CM:C10.2 xref: ICD10CM:C10.3 xref: ICD10CM:C10.8 xref: ICD9CM:146 xref: ICD9CM:146.5 xref: ICD9CM:146.6 xref: ICD9CM:146.7 xref: NCI:C7398 xref: SNOMEDCT_US_2023_03_01:187686007 xref: SNOMEDCT_US_2023_03_01:93933005 xref: SNOMEDCT_US_2023_03_01:93971002 xref: UMLS_CUI:C0153382 xref: UMLS_CUI:C0153388 xref: UMLS_CUI:C0153389 xref: UMLS_CUI:C0153390 is_a: DOID:0060119 ! pharynx cancer [Term] id: DOID:8559 name: obsolete carcinoma in situ of female genital organs synonym: "carcinoma in situ of other and unspecified female genital organs (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:856 name: biotinidase deficiency def: "A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25." [url:http\://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79241] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "BTD deficiency" EXACT [] synonym: "deficiency of biotinidase" EXACT [] synonym: "Juvenile-onset multiple carboxylase deficiency" EXACT [] synonym: "Late-onset multiple carboxylase deficiency" EXACT [] xref: GARD:894 xref: ICD10CM:D81.810 xref: MESH:D028921 xref: MIM:253260 xref: NCI:C84598 xref: SNOMEDCT_US_2023_03_01:8808004 xref: UMLS_CUI:C0220754 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:857 ! multiple carboxylase deficiency [Term] id: DOID:8560 name: obsolete carcinoma in situ of breast and genitourinary system synonym: "carcinoma in situ of breast and genitourinary system (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8564 name: lip cancer alt_id: DOID:8563 alt_id: DOID:8605 alt_id: DOID:8975 alt_id: DOID:9031 alt_id: DOID:9135 subset: NCIthesaurus synonym: "malignant neoplasm of commissure of lip" EXACT [] synonym: "malignant neoplasm of external Lip, not specified as upper or lower" EXACT [] synonym: "malignant neoplasm of labial commissure of lip" EXACT [] synonym: "malignant neoplasm of lip" EXACT [] synonym: "malignant neoplasm of lip, external" EXACT [] synonym: "malignant neoplasm of lip, inner aspect" EXACT [] synonym: "malignant neoplasm of lip, vermilion border" EXACT [] synonym: "malignant neoplasm of lower lip, buccal aspect" EXACT [] synonym: "malignant neoplasm of lower lip, inner aspect" EXACT [] synonym: "malignant neoplasm of lower lip, mucosa" EXACT [] synonym: "malignant neoplasm of lower lip, oral aspect" EXACT [] synonym: "malignant neoplasm of oral aspect of lip, not specified whether upper or lower" EXACT [] synonym: "malignant neoplasm of other sites of lip" EXACT [] synonym: "malignant neoplasm of vermilion border of lip" EXACT [] synonym: "malignant tumor of commissure of lip" EXACT [] synonym: "malignant tumor of labial mucosa" EXACT [] synonym: "malignant tumor of lip" EXACT [] synonym: "malignant tumor of lower labial mucosa" EXACT [] synonym: "malignant tumor of the Lip" EXACT [] synonym: "malignant tumour of labial commissure" EXACT [] synonym: "malignant tumour of lip" EXACT [] xref: ICD10CM:C00 xref: ICD9CM:140 xref: ICD9CM:140.6 xref: ICD9CM:140.8 xref: MESH:D008048 xref: NCI:C7485 xref: SNOMEDCT_US_2023_03_01:187626009 xref: SNOMEDCT_US_2023_03_01:93762003 xref: SNOMEDCT_US_2023_03_01:93869001 xref: UMLS_CUI:C0153340 xref: UMLS_CUI:C0153346 xref: UMLS_CUI:C0153347 is_a: DOID:8618 ! oral cavity cancer is_a: DOID:9297 ! lip disease [Term] id: DOID:8566 name: herpes simplex alt_id: DOID:8763 alt_id: DOID:9012 alt_id: DOID:9239 def: "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person." [url:http\://en.wikipedia.org/wiki/Herpes_simplex, url:https\://www.aad.org/public/diseases/a-z/herpes-simplex-overview] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Herpesvirus hominis disease" EXACT [] xref: ICD10CM:B00.9 xref: ICD9CM:054 xref: MESH:D006561 xref: NCI:C155871 xref: SNOMEDCT_US_2023_03_01:88594005 xref: UMLS_CUI:C0019348 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:8567 name: Hodgkin's lymphoma alt_id: DOID:0060059 alt_id: DOID:8652 alt_id: DOID:8671 alt_id: DOID:8685 alt_id: DOID:8710 alt_id: DOID:8715 alt_id: DOID:8841 alt_id: DOID:8953 alt_id: DOID:9096 alt_id: DOID:9107 def: "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell." [url:https\://en.wikipedia.org/wiki/Hodgkin%27s_lymphoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/22835602] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "HL" EXACT OMO:0003012 [] synonym: "Hodgkin disease" EXACT [] synonym: "Hodgkin lymphoma" EXACT [] synonym: "Hodgkin's sarcoma" EXACT [] synonym: "Hodgkins lymphoma" EXACT [] synonym: "stage I Subdiaphragmatic Hodgkin Lymphoma" EXACT [] synonym: "stage II Subdiaphragmatic Hodgkin Lymphoma" EXACT [] xref: EFO:0000183 xref: GARD:2714 xref: ICD10CM:C81 xref: ICD9CM:201 xref: MESH:D006689 xref: MIM:236000 xref: MIM:300221 xref: MIM:400021 xref: NCI:C9357 xref: ORDO:98293 xref: SNOMEDCT_US_2023_03_01:118599009 xref: UMLS_CUI:C0019829 is_a: DOID:0060058 ! lymphoma property_value: exactMatch "MESH:D006689" xsd:string property_value: exactMatch "NCI:C9357" xsd:string [Term] id: DOID:8568 name: infectious mononucleosis def: "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly." [url:http\://en.wikipedia.org/wiki/Infectious_mononucleosis, url:http\://www.cdc.gov/ncidod/diseases/ebv.htm] subset: DO_FlyBase_slim subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Filatov's disease" EXACT [] synonym: "Gammaherpesviral mononucleosis" EXACT [] synonym: "glandular fever" EXACT [] synonym: "Monocytic angina" EXACT [] synonym: "mononucleosis" EXACT [] synonym: "Pfeiffer's disease" EXACT [] xref: ICD10CM:B27 xref: ICD9CM:075 xref: MESH:D007244 xref: NCI:C34726 xref: SNOMEDCT_US_2023_03_01:154359004 xref: UMLS_CUI:C0021345 is_a: DOID:2938 ! Epstein-Barr virus infectious disease [Term] id: DOID:857 name: multiple carboxylase deficiency def: "An amino acid metabolic disorder that involves failures of carboxylation enzymes." [url:http\://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=148] subset: DO_rare_slim xref: GARD:3824 xref: ICD10CM:D81.81 xref: MESH:D009100 xref: SNOMEDCT_US_2023_03_01:62151000119109 xref: UMLS_CUI:C0026755 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9252 ! amino acid metabolic disorder property_value: exactMatch "MESH:D009100" xsd:string [Term] id: DOID:8573 name: lichen nitidus synonym: "Pinkus' disease" EXACT [] xref: ICD10CM:L44.1 xref: ICD9CM:697.1 xref: MESH:D017513 xref: SNOMEDCT_US_2023_03_01:41890004 xref: UMLS_CUI:C0162849 is_a: DOID:8574 ! lichen disease [Term] id: DOID:8574 name: lichen disease xref: ICD10CM:L28.0 xref: ICD9CM:697.9 xref: SNOMEDCT_US_2023_03_01:156376003 xref: UMLS_CUI:C0023643 is_a: DOID:37 ! skin disease [Term] id: DOID:8577 name: ulcerative colitis alt_id: DOID:8576 alt_id: DOID:9016 def: "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores." [url:http\://en.wikipedia.org/wiki/Ulcerative_colitis, url:https\://meshb.nlm.nih.gov/record/ui?ui=D003093] comment: OMIM mapping confirmed by DO. [LS]. subset: NCIthesaurus synonym: "Left-sided ulcerative colitis" EXACT [] xref: EFO:0000729 xref: ICD10CM:K51 xref: ICD9CM:556 xref: ICD9CM:556.5 xref: MESH:D003093 xref: NCI:C2952 xref: SNOMEDCT_US_2023_03_01:196988003 xref: SNOMEDCT_US_2023_03_01:441971007 xref: UMLS_CUI:C0009324 xref: UMLS_CUI:C0375359 is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract is_a: DOID:0060180 ! colitis [Term] id: DOID:8578 name: soft palate cancer subset: NCIthesaurus synonym: "malignant tumor of soft palate" EXACT [] synonym: "malignant tumor of the soft Palate" EXACT [] xref: ICD10CM:C05.1 xref: ICD9CM:145.3 xref: NCI:C3529 xref: SNOMEDCT_US_2023_03_01:94049001 xref: UMLS_CUI:C0153376 is_a: DOID:8618 ! oral cavity cancer [Term] id: DOID:8580 name: obsolete malignant histiocytosis alt_id: DOID:8579 synonym: "Stewart's granuloma" EXACT [] is_obsolete: true [Term] id: DOID:8583 name: obsolete Burkitt's tumor or lymphoma involving intrathoracic lymph nodes synonym: "Burkitt's lymphoma of intrathoracic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8584 name: Burkitt lymphoma def: "A mature B-cell neoplasm of B-cells found in the germinal center." [url:http\://en.wikipedia.org/wiki/Burkitt%27s_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=45203] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Burkitt lymphoma/leukaemia" EXACT [] synonym: "Burkitt's Lymphoma" EXACT [] synonym: "Burkitt's tumor" EXACT [] synonym: "Burkitt's tumor or lymphoma" EXACT [] synonym: "malignant lymphoma, Burkitt's type" EXACT [] synonym: "small Non-Cleaved cell Lymphoma, Burkitt's type" EXACT [] xref: GARD:5973 xref: ICD10CM:C83.7 xref: ICD9CM:200.2 xref: ICDO:9687/3 xref: MESH:D002051 xref: MIM:113970 xref: NCI:C2912 xref: ORDO:543 xref: SNOMEDCT_US_2023_03_01:118617000 xref: UMLS_CUI:C0006413 is_a: DOID:706 ! mature B-cell neoplasm [Term] id: DOID:8586 name: obsolete dysplasia of cervix alt_id: DOID:8585 alt_id: DOID:8796 synonym: "cervical dysplasia" EXACT [] synonym: "cervical dysplasia NOS" EXACT [] synonym: "cervical intraepithelial neoplasia grade 1" EXACT [] synonym: "cervical intraepithelial neoplasia grade 1 (disorder)" EXACT [] synonym: "cervical intraepithelial neoplasia grade 2" EXACT [] synonym: "cervical intraepithelial neoplasia grade 2 (disorder)" EXACT [] synonym: "cervical intraepithelial neoplasia I [CIN I]" EXACT [] synonym: "Cervix Dysplasia" EXACT [] synonym: "Dysplasia of cervix (disorder)" EXACT [] synonym: "Dysplasia of cervix (uteri)" EXACT [] synonym: "Dysplasia of cervix NOS (disorder)" EXACT [] synonym: "Dysplasia of cervix uteri" EXACT [] synonym: "Dysplasia of cervix uteri (disorder)" EXACT [] synonym: "Low-grade Intraepithelial Neoplasia of Cervix Uteri" EXACT [] synonym: "Mild dysplasia of cervix" EXACT [] synonym: "Moderate dysplasia of cervix" EXACT [] synonym: "Moderate squamous Dysplasia of the Cervix" EXACT [] is_obsolete: true [Term] id: DOID:8587 name: obsolete Burkitt's tumor or lymphoma extranodal and solid organ sites is_obsolete: true [Term] id: DOID:859 name: holocarboxylase synthetase deficiency def: "A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase." [url:http\://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Biotin-(propionyl-CoA-carboxylase) ligase deficiency" EXACT [] synonym: "Multiple carboxylase deficiency - neonatal onset" EXACT [] xref: GARD:2721 xref: ICD10CM:D81.818 xref: MESH:D028922 xref: MIM:253270 xref: NCI:C98842 xref: SNOMEDCT_US_2023_03_01:15307001 xref: UMLS_CUI:C0268581 is_a: DOID:857 ! multiple carboxylase deficiency [Term] id: DOID:8590 name: acute vascular insufficiency of intestine subset: NCIthesaurus synonym: "acute gastrointestinal tract vascular insuffic." EXACT [] synonym: "acute GIT vascular insuffic." EXACT [] synonym: "acute intestinal Ischemia" EXACT [] synonym: "acute intestinal vascular insufficiency" EXACT [] xref: ICD9CM:557.0 xref: NCI:C34356 xref: SNOMEDCT_US_2023_03_01:91489000 xref: UMLS_CUI:C0001363 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:8592 name: obsolete reticulosarcoma involving lymph nodes of inguinal region and lower limb synonym: "Reticulosarcoma of lymph nodes of inguinal region and lower limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8593 name: chronic monocytic leukemia alt_id: DOID:9194 subset: NCIthesaurus xref: ICD10CM:C93.1 xref: ICD9CM:206.1 xref: MESH:D007951 xref: NCI:C34774 xref: SNOMEDCT_US_2023_03_01:46236001 xref: UMLS_CUI:C0023466 is_a: DOID:8527 ! monocytic leukemia [Term] id: DOID:8596 name: scarlet fever alt_id: DOID:8597 def: "An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash." [url:https\://www.merriam-webster.com/dictionary/scarlet%20fever#medicalDictionary] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Scarlatina" EXACT [] xref: ICD10CM:A38 xref: ICD9CM:034 xref: ICD9CM:034.1 xref: MESH:D012541 xref: NCI:C94575 xref: SNOMEDCT_US_2023_03_01:154301006 xref: SNOMEDCT_US_2023_03_01:154303009 xref: UMLS_CUI:C0036285 xref: UMLS_CUI:C0343487 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:8598 name: obsolete mild degree recurrent episode manic disorder is_obsolete: true [Term] id: DOID:8599 name: obsolete Sezary's disease involving lymph nodes of inguinal region and lower limb synonym: "Sezary's disease of lymph nodes of inguinal region and lower limb (disorder)" EXACT [] synonym: "Szary's disease of lymph nodes of inguinal region and/or lower limb" EXACT [] is_obsolete: true [Term] id: DOID:8600 name: obsolete carcinoid syndrome synonym: "Excessive serotonin secretion" EXACT [] synonym: "Hormonal tumour" RELATED [] synonym: "Hormone secretion by carcinoid tumors" EXACT [] is_obsolete: true [Term] id: DOID:8601 name: upper gum cancer synonym: "malignant tumor of upper gingiva" EXACT [] synonym: "malignant tumour of upper gum" EXACT [] xref: ICD10CM:C03.0 xref: ICD9CM:143.0 xref: SNOMEDCT_US_2023_03_01:94114005 xref: UMLS_CUI:C0153365 is_a: DOID:8602 ! gum cancer [Term] id: DOID:8602 name: gum cancer alt_id: DOID:8734 subset: NCIthesaurus synonym: "malignant Gingival tumor" EXACT [] synonym: "malignant neoplasm of gum" EXACT [] synonym: "malignant neoplasm of other sites of gum" EXACT [] synonym: "malignant tumor of gum" EXACT [] synonym: "malignant tumour of gingiva" EXACT [] xref: ICD10CM:C03 xref: ICD9CM:143 xref: NCI:C9317 xref: SNOMEDCT_US_2023_03_01:93819009 xref: UMLS_CUI:C0153364 is_a: DOID:8618 ! oral cavity cancer [Term] id: DOID:8604 name: obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes" RELATED [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes [dup] (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8607 name: herpetic whitlow def: "A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes." [url:http\://en.wikipedia.org/wiki/Herpetic_whitlow] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Herpetic felon" EXACT [] xref: ICD9CM:054.6 xref: NCI:C128402 xref: SNOMEDCT_US_2023_03_01:43891009 xref: UMLS_CUI:C0153042 is_a: DOID:8566 ! herpes simplex [Term] id: DOID:8609 name: obsolete moderate degree recurrent episode manic disease is_obsolete: true [Term] id: DOID:8611 name: obsolete drug induced sleep disorder is_obsolete: true [Term] id: DOID:8615 name: obsolete spontaneous abortion complicated by shock alt_id: DOID:8889 synonym: "spontaneous abortion complicated by shock (disorder)" EXACT [] synonym: "spontaneous abortion, unspecified, complicated by shock" EXACT [] is_obsolete: true [Term] id: DOID:8616 name: Peyronie's disease comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Induratio penis plastica" EXACT [] synonym: "Peyronie disease" EXACT [] synonym: "Peyronie's Fibromatosis" EXACT [] xref: GARD:7379 xref: ICD10CM:N48.6 xref: ICD9CM:607.85 xref: MESH:D010411 xref: MIM:171000 xref: NCI:C3316 xref: SNOMEDCT_US_2023_03_01:155931002 xref: UMLS_CUI:C0030848 is_a: DOID:1529 ! penile disease [Term] id: DOID:8618 name: oral cavity cancer alt_id: DOID:0050627 alt_id: DOID:8617 alt_id: DOID:9049 alt_id: DOID:9055 def: "A gastrointestinal system cancer that is located_in the oral cavity." [url:http\://en.wikipedia.org/wiki/Oral_cancer] subset: DO_rare_slim subset: NCIthesaurus subset: TopNodes_DOcancerslim synonym: "malignant neoplasm of floor of mouth" EXACT [] xref: GARD:9360 xref: ICD10CM:C04 xref: ICD10CM:C04.0 xref: ICD10CM:C04.1 xref: ICD9CM:144 xref: ICD9CM:144.0 xref: ICD9CM:144.1 xref: NCI:C9318 xref: SNOMEDCT_US_2023_03_01:93672006 xref: SNOMEDCT_US_2023_03_01:93802007 xref: SNOMEDCT_US_2023_03_01:93860002 xref: UMLS_CUI:C0153368 xref: UMLS_CUI:C0153369 xref: UMLS_CUI:C0496758 is_a: DOID:3119 ! gastrointestinal system cancer is_a: DOID:403 ! mouth disease [Term] id: DOID:8619 name: recurrent hypersomnia def: "A sleep disorder that involves recurring bouts of excessive amounts of sleepiness." [url:http\://en.wikipedia.org/wiki/Hypersomnia] synonym: "primary recurrent hypersomnia" EXACT [] xref: ICD10CM:G47.13 xref: ICD9CM:327.13 xref: MESH:D006970 xref: SNOMEDCT_US_2023_03_01:426451004 xref: UMLS_CUI:C0751226 is_a: DOID:535 ! sleep disorder [Term] id: DOID:862 name: diplegia of upper limb synonym: "Diplegia of upper limbs" EXACT [] synonym: "Diplegia, upper" EXACT [] xref: ICD10CM:G83.0 xref: ICD9CM:344.2 xref: SNOMEDCT_US_2023_03_01:192968004 xref: UMLS_CUI:C0154701 is_a: DOID:863 ! nervous system disease [Term] id: DOID:8620 name: obsolete reticulosarcoma involving intrapelvic lymph nodes synonym: "Reticulosarcoma of intrapelvic lymph nodes" EXACT [] synonym: "Reticulosarcoma of intrapelvic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8622 name: measles alt_id: DOID:8621 alt_id: DOID:8963 alt_id: DOID:9112 def: "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] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "morbilli" EXACT [] xref: GARD:3434 xref: ICD10CM:B05 xref: ICD9CM:055 xref: MESH:D008457 xref: NCI:C96406 xref: SNOMEDCT_US_2023_03_01:154338006 xref: UMLS_CUI:C0025007 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:8623 name: obsolete adhesions and disruptions of pupillary membranes is_obsolete: true [Term] id: DOID:8625 name: obsolete postherpetic trigeminal neuralgia def: "A viral infectious disease that results_in pain located_in trigeminal nerve, has_material_basis_in Human herpesvirus 3, which reactivates after the initial infection. The infection has_symptom facial pain." [url:http\://www.jmedicalcasereports.com/content/3/1/7813, url:http\://www.merckmanuals.com/home/sec06/ch096/ch096e.html] synonym: "Post-herpetic trigeminal neuralgia" EXACT [] synonym: "Post-herpetic trigeminal neuralgia (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8626 name: obsolete Sezary's disease involving spleen synonym: "Sezary's disease of spleen (disorder)" EXACT [] synonym: "Szary's disease of spleen (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8627 name: obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and lower limb (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb" RELATED [] is_obsolete: true [Term] id: DOID:8628 name: Hodgkin's lymphoma, lymphocytic depletion alt_id: DOID:9047 subset: NCIthesaurus synonym: "Hodgkin lymphoma, lymphocyte depletion" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion" EXACT [] synonym: "Hodgkin's lymphocytic depletion of unspecified site" EXACT [] synonym: "Lymphocyte-Depleted Classical Hodgkin Lymphoma" EXACT [] xref: ICD10CM:C81.3 xref: ICD9CM:201.7 xref: MESH:D006689 xref: NCI:C9283 xref: SNOMEDCT_US_2023_03_01:112687003 xref: UMLS_CUI:C0152267 is_a: DOID:8567 ! Hodgkin's lymphoma [Term] id: DOID:863 name: nervous system disease def: "A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system." [url:http\://en.wikipedia.org/wiki/Nervous_system] subset: DO_CFDE_slim subset: DO_GXD_slim subset: DO_MGI_slim subset: NCIthesaurus xref: ICD10CM:G98 xref: ICD9CM:349.9 xref: MESH:D009422 xref: NCI:C26835 xref: SNOMEDCT_US_2023_03_01:155262005 xref: UMLS_CUI:C0027765 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:8630 name: upper lip cancer alt_id: DOID:8984 xref: ICD10CM:C00.0 xref: ICD10CM:C00.3 xref: ICD9CM:140.0 xref: ICD9CM:140.3 xref: SNOMEDCT_US_2023_03_01:187609003 xref: SNOMEDCT_US_2023_03_01:94137004 xref: UMLS_CUI:C0432579 xref: UMLS_CUI:C0474962 is_a: DOID:8564 ! lip cancer [Term] id: DOID:8632 name: Kaposi's sarcoma alt_id: DOID:12761 alt_id: DOID:12762 alt_id: DOID:12764 alt_id: DOID:12766 alt_id: DOID:12767 alt_id: DOID:12768 alt_id: DOID:12770 alt_id: DOID:12771 alt_id: DOID:12772 alt_id: DOID:12774 alt_id: DOID:12775 alt_id: DOID:12776 alt_id: DOID:12777 alt_id: DOID:12778 alt_id: DOID:6480 alt_id: DOID:7239 alt_id: DOID:8631 def: "A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8)." [url:http\://cancerres.aacrjournals.org/content/58/8/1599.full.pdf, url:http\://en.wikipedia.org/wiki/Kaposi%27s_sarcoma] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "African lymphadenopathic Kaposi's sarcoma" RELATED [] synonym: "anal Kaposi's sarcoma" EXACT [] synonym: "cardiac Kaposi's sarcoma" EXACT [] synonym: "central nervous system Kaposi's sarcoma" EXACT [] synonym: "conjunctival Kaposi's sarcoma" EXACT [] synonym: "corneal Kaposi's sarcoma" EXACT [] synonym: "cutaneous Kaposi's sarcoma" EXACT [] synonym: "esophageal Kaposi's sarcoma" EXACT [] synonym: "gallbladder Kaposi's sarcoma" EXACT [] synonym: "gastric Kaposi's sarcoma" EXACT [] synonym: "intestinal Kaposi's sarcoma" EXACT [] synonym: "Kaposi sarcoma" EXACT [] synonym: "Kaposi's sarcoma of anus" EXACT [] synonym: "Kaposi's sarcoma of central nervous system" EXACT [] synonym: "Kaposi's sarcoma of conjunctiva" EXACT [] synonym: "Kaposi's sarcoma of cornea" EXACT [] synonym: "Kaposi's sarcoma of esophagus" EXACT [] synonym: "Kaposi's sarcoma of gastrointestinal sites" EXACT [] synonym: "Kaposi's sarcoma of Heart" EXACT [] synonym: "Kaposi's sarcoma of lung" EXACT [] synonym: "Kaposi's sarcoma of lymph nodes" EXACT [] synonym: "Kaposi's sarcoma of palate" EXACT [] synonym: "Kaposi's sarcoma of penis" EXACT [] synonym: "Kaposi's sarcoma of skin" EXACT [] synonym: "Kaposi's sarcoma of soft tissue" EXACT [] synonym: "Kaposi's sarcoma of soft tissues" EXACT [] synonym: "Kaposi's sarcoma of the CNS" EXACT [] synonym: "Kaposi's sarcoma of the gallbladder" EXACT [] synonym: "Kaposi's sarcoma of the prostate" EXACT [] synonym: "Kaposi's sarcoma, lung" EXACT [] synonym: "Kaposi's sarcoma, skin" EXACT [] synonym: "Kaposi's sarcoma-associated herpesvirus (KSHV)" RELATED [] synonym: "lymph node Kaposi's sarcoma" EXACT [] synonym: "lymphadenopathic Kaposi's sarcoma" EXACT [] synonym: "palate Kaposi's sarcoma" EXACT [] synonym: "penis Kaposi's sarcoma" EXACT [] synonym: "prostate Kaposi's sarcoma" EXACT [] synonym: "pulmonary Kaposi's sarcoma" EXACT [] synonym: "soft tissue Kaposi's sarcoma" EXACT [] xref: GARD:6814 xref: ICD10CM:C46 xref: ICD10CM:C46.0 xref: ICD10CM:C46.1 xref: ICD10CM:C46.2 xref: ICD10CM:C46.3 xref: ICD10CM:C46.4 xref: ICD10CM:C46.5 xref: ICD9CM:176 xref: ICD9CM:176.0 xref: ICD9CM:176.1 xref: ICD9CM:176.2 xref: ICD9CM:176.3 xref: ICD9CM:176.4 xref: ICD9CM:176.5 xref: MESH:D012514 xref: NCI:C27500 xref: NCI:C3550 xref: NCI:C3551 xref: NCI:C4578 xref: NCI:C4579 xref: NCI:C5363 xref: NCI:C5523 xref: NCI:C5529 xref: NCI:C5602 xref: NCI:C5706 xref: NCI:C5842 xref: NCI:C6377 xref: NCI:C6749 xref: NCI:C7006 xref: NCI:C9087 xref: SNOMEDCT_US_2023_03_01:109385007 xref: SNOMEDCT_US_2023_03_01:109388009 xref: SNOMEDCT_US_2023_03_01:109390005 xref: SNOMEDCT_US_2023_03_01:188029000 xref: SNOMEDCT_US_2023_03_01:188144002 xref: SNOMEDCT_US_2023_03_01:188775002 xref: SNOMEDCT_US_2023_03_01:255114007 xref: SNOMEDCT_US_2023_03_01:255115008 xref: UMLS_CUI:C0036220 xref: UMLS_CUI:C0153560 xref: UMLS_CUI:C0153561 xref: UMLS_CUI:C0153562 xref: UMLS_CUI:C0153563 xref: UMLS_CUI:C0153564 xref: UMLS_CUI:C0153565 xref: UMLS_CUI:C0346935 xref: UMLS_CUI:C0346936 xref: UMLS_CUI:C1332265 xref: UMLS_CUI:C1332847 xref: UMLS_CUI:C1333453 xref: UMLS_CUI:C1333744 xref: UMLS_CUI:C1333776 xref: UMLS_CUI:C1334318 xref: UMLS_CUI:C1334457 xref: UMLS_CUI:C1335372 xref: UMLS_CUI:C1335509 is_a: DOID:201 ! connective tissue cancer is_a: DOID:934 ! viral infectious disease [Term] id: DOID:8633 name: chronic intestinal vascular insufficiency synonym: "chronic mesenteric ischemia" EXACT [] synonym: "CMI - chronic mesenteric ischaemia" EXACT [] xref: ICD9CM:557.1 xref: SNOMEDCT_US_2023_03_01:266448009 xref: UMLS_CUI:C0311262 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:8634 name: prostate carcinoma in situ def: "An in situ carcinoma that is located_in the prostate." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25046199] synonym: "carcinoma in situ of prostate" EXACT [] synonym: "grade III PIN" EXACT [] synonym: "PIN III" EXACT OMO:0003012 [] xref: ICD10CM:D07.5 xref: ICD9CM:233.4 xref: SNOMEDCT_US_2023_03_01:92691004 xref: UMLS_CUI:C0154088 is_a: DOID:47 ! prostate disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:8635 name: uvula cancer subset: NCIthesaurus synonym: "malignant tumor of uvula" EXACT [] synonym: "malignant Uvular tumor" EXACT [] xref: ICD10CM:C05.2 xref: ICD9CM:145.4 xref: NCI:C35177 xref: SNOMEDCT_US_2023_03_01:94129007 xref: UMLS_CUI:C0153377 is_a: DOID:8578 ! soft palate cancer [Term] id: DOID:8638 name: obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes" EXACT [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes [dup] (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8639 name: obsolete alcohol withdrawal delirium synonym: "Alcohol Withdrawal Delirium" EXACT [] synonym: "Alcohol withdrawal delirium (disorder)" EXACT [] synonym: "Alcoholic delirium" EXACT [] synonym: "Delirium tremens" EXACT [] synonym: "delirium tremens" EXACT [] synonym: "Mental and behavioral disorder due to use of alcohol: withdrawal state with delirium (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:864 name: phlebitis def: "A vein disease that is characterized by inflammation of a vein." [url:http\://en.wikipedia.org/wiki/Phlebitis] subset: NCIthesaurus xref: ICD10CM:I80 xref: MESH:D010689 xref: NCI:C38003 xref: SNOMEDCT_US_2023_03_01:61599003 xref: UMLS_CUI:C0031542 is_a: DOID:866 ! vein disease [Term] id: DOID:8640 name: obsolete reticulosarcoma involving lymph nodes of multiple sites synonym: "Reticulosarcoma of lymph nodes of multiple sites" EXACT [] synonym: "Reticulosarcoma of lymph nodes of multiple sites (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8641 name: obsolete Hodgkin's paragranuloma involving lymph nodes of axilla and upper limb synonym: "Hodgkin's paragranuloma of lymph nodes of axilla and upper limb (disorder)" EXACT [] synonym: "Hodgkin's paragranuloma of lymph nodes of axilla and/or upper limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8642 name: Hodgkin's paragranuloma alt_id: DOID:8951 alt_id: DOID:8972 synonym: "Hodgkin paragranuloma" EXACT [] is_a: DOID:8567 ! Hodgkin's lymphoma [Term] id: DOID:8643 name: duodenitis alt_id: DOID:8897 alt_id: DOID:8983 subset: NCIthesaurus synonym: "Hemorrhagic duodenitis" EXACT [] xref: ICD10CM:K29.8 xref: ICD9CM:535.6 xref: MESH:D004382 xref: NCI:C94409 xref: SNOMEDCT_US_2023_03_01:155715004 xref: UMLS_CUI:C0013298 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:8644 name: gastroduodenitis alt_id: DOID:8571 alt_id: DOID:8572 alt_id: DOID:8759 alt_id: DOID:8776 alt_id: DOID:8777 alt_id: DOID:9223 xref: ICD9CM:535.4 xref: SNOMEDCT_US_2023_03_01:196737009 xref: UMLS_CUI:C0029800 is_a: DOID:750 ! peptic ulcer disease [Term] id: DOID:8645 name: subacute delirium xref: ICD9CM:293.1 xref: MESH:D003693 xref: SNOMEDCT_US_2023_03_01:191507002 xref: UMLS_CUI:C0154333 is_a: DOID:8646 ! substance-induced psychosis [Term] id: DOID:8646 name: substance-induced psychosis xref: ICD9CM:293.89 xref: UMLS_CUI:C0154334 is_a: DOID:2468 ! psychotic disorder [Term] id: DOID:8649 name: tongue cancer alt_id: DOID:8648 alt_id: DOID:8779 alt_id: DOID:8900 alt_id: DOID:8940 alt_id: DOID:8999 alt_id: DOID:9058 alt_id: DOID:9068 alt_id: DOID:9196 subset: DO_rare_slim subset: NCIthesaurus synonym: "malignant neoplasm of tongue" EXACT [] xref: GARD:7779 xref: ICD10CM:C01 xref: ICD10CM:C02.0 xref: ICD10CM:C02.1 xref: ICD10CM:C02.2 xref: ICD10CM:C02.4 xref: ICD10CM:C02.9 xref: ICD9CM:141 xref: ICD9CM:141.0 xref: ICD9CM:141.1 xref: ICD9CM:141.2 xref: ICD9CM:141.3 xref: ICD9CM:141.5 xref: ICD9CM:141.6 xref: MESH:D014062 xref: NCI:C3524 xref: NCI:C9345 xref: SNOMEDCT_US_2023_03_01:187644001 xref: SNOMEDCT_US_2023_03_01:363376007 xref: SNOMEDCT_US_2023_03_01:363377003 xref: SNOMEDCT_US_2023_03_01:93773005 xref: SNOMEDCT_US_2023_03_01:94100005 xref: SNOMEDCT_US_2023_03_01:94101009 xref: SNOMEDCT_US_2023_03_01:94134006 xref: UMLS_CUI:C0153349 xref: UMLS_CUI:C0153350 xref: UMLS_CUI:C0153351 xref: UMLS_CUI:C0153356 xref: UMLS_CUI:C0474963 xref: UMLS_CUI:C0496755 xref: UMLS_CUI:C0684333 is_a: DOID:10944 ! tongue disease is_a: DOID:8618 ! oral cavity cancer [Term] id: DOID:865 name: vasculitis def: "A vascular disease that is characterized by inflammation of the blood vessels." [url:http\://en.wikipedia.org/wiki/Vasculitis, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/vas/, url:http\://www.nlm.nih.gov/medlineplus/vasculitis.html] subset: DO_rare_slim subset: NCIthesaurus synonym: "Angiitis" EXACT [] xref: GARD:9565 xref: MESH:D014657 xref: NCI:C26912 xref: SNOMEDCT_US_2023_03_01:195375002 xref: UMLS_CUI:C0042384 is_a: DOID:178 ! vascular disease [Term] id: DOID:8650 name: obsolete Hodgkin's granuloma involving intrapelvic lymph nodes synonym: "Hodgkin's granuloma of intrapelvic lymph nodes" EXACT [] synonym: "Hodgkin's granuloma of intrapelvic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8651 name: Hodgkin's granuloma alt_id: DOID:9102 synonym: "Hodgkin granuloma" EXACT [] is_a: DOID:8567 ! Hodgkin's lymphoma [Term] id: DOID:8653 name: obsolete Hodgkin's lymphoma, mixed cellularity, involving intrathoracic lymph nodes synonym: "Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes" EXACT [] synonym: "Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes (disorder)" EXACT [] synonym: "Hodgkin's disease, mixed cellularity, involving intrathoracic lymph nodes" RELATED [] is_obsolete: true [Term] id: DOID:8654 name: Hodgkin's lymphoma, mixed cellularity subset: NCIthesaurus synonym: "Hodgkin's disease, mixed cellularity" EXACT [] xref: ICD10CM:C81.2 xref: ICD9CM:201.6 xref: MESH:D006689 xref: NCI:C3517 xref: SNOMEDCT_US_2023_03_01:118609008 xref: UMLS_CUI:C0152266 is_a: DOID:8567 ! Hodgkin's lymphoma [Term] id: DOID:8656 name: obsolete Sezary's disease involving lymph nodes of multiple sites is_obsolete: true [Term] id: DOID:8659 name: chickenpox alt_id: DOID:8658 alt_id: DOID:8693 alt_id: DOID:9243 def: "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." [url:http\://www.nlm.nih.gov/medlineplus/chickenpox.html] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "varicella" EXACT [] xref: ICD10CM:B01.9 xref: ICD9CM:052 xref: MESH:D002644 xref: NCI:C97132 xref: SNOMEDCT_US_2023_03_01:186508005 xref: UMLS_CUI:C0008049 is_a: DOID:934 ! viral infectious disease property_value: exactMatch "MESH:D002644" xsd:string [Term] id: DOID:866 name: vein disease def: "A vascular disease that is located_in a vein." [url:http\://en.wikipedia.org/wiki/Vein#Venous_diseases] xref: ICD10CM:I82 xref: ICD9CM:453 xref: SNOMEDCT_US_2023_03_01:195435006 xref: UMLS_CUI:C0155774 is_a: DOID:178 ! vascular disease [Term] id: DOID:8660 name: postcricoid region cancer subset: NCIthesaurus synonym: "malignant Postcricoid tumor" EXACT [] synonym: "malignant tumor of pharyngoesophageal junction" EXACT [] xref: ICD10CM:C13.0 xref: ICD9CM:148.0 xref: NCI:C9323 xref: SNOMEDCT_US_2023_03_01:93967000 xref: UMLS_CUI:C0496769 is_a: DOID:8533 ! hypopharynx cancer [Term] id: DOID:8661 name: lip carcinoma in situ def: "An oral cavity carcinoma in situ that is located_in the lip." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1465369/] xref: ICD10CM:D00.0 xref: ICD9CM:230.0 xref: SNOMEDCT_US_2023_03_01:189210009 xref: UMLS_CUI:C0154058 is_a: DOID:0050610 ! oral cavity carcinoma in situ is_a: DOID:9297 ! lip disease [Term] id: DOID:8662 name: obsolete carcinoma in situ of digestive organ alt_id: DOID:9018 def: "A carcinoma in situ that is characterized by the spread of cancer in the digestive organ and the lack of invasion of surrounding tissues." [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ] synonym: "carcinoma in situ of digestive organ" EXACT [] synonym: "carcinoma in situ of digestive organ (disorder)" EXACT [] synonym: "carcinoma in situ of digestive organ NOS" EXACT [] synonym: "carcinoma in situ of digestive organ, unspecified (disorder)" EXACT [] synonym: "carcinoma in situ of digestive organs" EXACT [] synonym: "carcinoma in situ of digestive organs NOS (disorder)" EXACT [] synonym: "carcinoma in situ of other and unspecified digestive organs (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8663 name: aryepiglottic fold cancer synonym: "malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold" EXACT [] synonym: "malignant tumor aryepiglottic fold - hypopharyngeal aspect" EXACT [] xref: ICD10CM:C13.1 xref: ICD9CM:148.2 xref: SNOMEDCT_US_2023_03_01:187708004 xref: UMLS_CUI:C0153401 is_a: DOID:8533 ! hypopharynx cancer [Term] id: DOID:8664 name: obsolete nodular lymphoma involving intrapelvic lymph nodes synonym: "nodular lymphoma of intrapelvic lymph nodes" EXACT [] synonym: "nodular lymphoma of intrapelvic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8667 name: obsolete Hodgkin's sarcoma involving intra-abdominal lymph nodes synonym: "Hodgkin's sarcoma of intra-abdominal lymph nodes" EXACT [] synonym: "Hodgkin's sarcoma of intra-abdominal lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:867 name: maxillary sinus cholesteatoma def: "A cholesteatoma located_in paranasal sinus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1503726] subset: NCIthesaurus xref: NCI:C35868 xref: UMLS_CUI:C1334644 is_a: DOID:1352 ! paranasal sinus disease is_a: DOID:869 ! cholesteatoma [Term] id: DOID:8670 name: eating disorder def: "A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health." [url:http\://en.wikipedia.org/wiki/Eating_disorder] subset: NCIthesaurus xref: ICD10CM:F50 xref: ICD9CM:307.50 xref: MESH:D001068 xref: NCI:C89332 xref: SNOMEDCT_US_2023_03_01:72366004 xref: UMLS_CUI:C0013473 is_a: DOID:0060038 ! specific developmental disorder [Term] id: DOID:8672 name: viral exanthem alt_id: DOID:8730 alt_id: DOID:8744 alt_id: DOID:9213 subset: DO_infectious_disease_slim xref: ICD9CM:057.8 xref: SNOMEDCT_US_2023_03_01:186577001 xref: UMLS_CUI:C0029841 is_a: DOID:0050486 ! exanthem is_a: DOID:934 ! viral infectious disease [Term] id: DOID:8674 name: obsolete lymphosarcoma involving intrapelvic lymph nodes is_obsolete: true [Term] id: DOID:8675 name: obsolete ymphosarcoma alt_id: DOID:8967 def: "A sarcoma that has_material_basis_in lymphatic tissue." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/lymphosarcoma] comment: lymphosarcoma has been obsoleted in NCI. is_obsolete: true [Term] id: DOID:8676 name: obsolete malignant histiocytosis involving lymph nodes of multiple sites synonym: "malignant histiocytosis of lymph nodes of multiple sites (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8677 name: perinatal necrotizing enterocolitis synonym: "ENTEROCOLITIS NECROTIZING" EXACT [] synonym: "necrotizing enterocolitis" EXACT [] synonym: "Necrotizing enterocolitis in fetus OR newborn" EXACT [] synonym: "Perinatal necrotising enterocolitis" EXACT [] synonym: "Pseudomembranous enterocolitis in newborn" EXACT [] xref: ICD10CM:K55.3 xref: MESH:D020345 xref: UMLS_CUI:C0520459 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:8680 name: alcoholic gastritis alt_id: DOID:8957 alt_id: DOID:9154 subset: NCIthesaurus synonym: "Alcoholic gastritis, with hemorrhage" EXACT [] synonym: "Alcoholic gastritis, without mention of hemorrhage" EXACT [] xref: ICD10CM:K29.2 xref: ICD9CM:535.3 xref: NCI:C26977 xref: SNOMEDCT_US_2023_03_01:155714000 xref: UMLS_CUI:C0156076 is_a: DOID:4029 ! gastritis [Term] id: DOID:8681 name: paraneoplastic polyneuropathy subset: NCIthesaurus xref: ICD9CM:357.3 xref: MESH:D020364 xref: NCI:C3981 xref: SNOMEDCT_US_2023_03_01:77659000 xref: UMLS_CUI:C0270932 is_a: DOID:2537 ! inflammatory and toxic neuropathy [Term] id: DOID:8683 name: myeloid sarcoma alt_id: DOID:8682 alt_id: DOID:8848 subset: DO_rare_slim subset: NCIthesaurus synonym: "Chloroma" EXACT [] synonym: "Extramedullary Myeloid tumor" EXACT [] synonym: "Granulocytic sarcoma" EXACT [] xref: GARD:12763 xref: ICD10CM:C92.3 xref: ICDO:9930/3 xref: MESH:D023981 xref: NCI:C35815 xref: SNOMEDCT_US_2023_03_01:188738007 xref: UMLS_CUI:C0152276 is_a: DOID:2531 ! hematologic cancer [Term] id: DOID:8687 name: skin carcinoma in situ alt_id: DOID:8686 alt_id: DOID:8699 alt_id: DOID:8817 alt_id: DOID:8831 alt_id: DOID:8880 alt_id: DOID:8989 alt_id: DOID:9000 alt_id: DOID:9185 alt_id: DOID:9221 def: "A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues." [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ] subset: NCIthesaurus synonym: "carcinoma in situ of skin" RELATED [] synonym: "Cutaneous carcinoma in situ" EXACT [] xref: ICD10CM:D04 xref: ICD10CM:D04.0 xref: ICD10CM:D04.2 xref: ICD10CM:D04.3 xref: ICD10CM:D04.4 xref: ICD10CM:D04.6 xref: ICD10CM:D04.7 xref: ICD9CM:232 xref: ICD9CM:232.0 xref: ICD9CM:232.2 xref: ICD9CM:232.3 xref: ICD9CM:232.4 xref: ICD9CM:232.5 xref: ICD9CM:232.6 xref: ICD9CM:232.7 xref: NCI:C3640 xref: SNOMEDCT_US_2023_03_01:189276007 xref: SNOMEDCT_US_2023_03_01:189291009 xref: SNOMEDCT_US_2023_03_01:189295000 xref: SNOMEDCT_US_2023_03_01:190179004 xref: SNOMEDCT_US_2023_03_01:255144005 xref: SNOMEDCT_US_2023_03_01:92735004 xref: SNOMEDCT_US_2023_03_01:92747005 xref: SNOMEDCT_US_2023_03_01:92749008 xref: UMLS_CUI:C0154073 xref: UMLS_CUI:C0154074 xref: UMLS_CUI:C0154077 xref: UMLS_CUI:C0154078 xref: UMLS_CUI:C0154079 xref: UMLS_CUI:C0154080 xref: UMLS_CUI:C0154081 xref: UMLS_CUI:C0347139 is_a: DOID:37 ! skin disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:8688 name: tonsillar pillar cancer synonym: "malignant neoplasm of tonsillar pillar" EXACT [] synonym: "malignant neoplasm of tonsillar pillars, posterior" EXACT [] synonym: "malignant tumor of tonsillar pillar" EXACT [] synonym: "malignant tumour of tonsillar pillar" EXACT [] xref: ICD10CM:C09.1 xref: ICD9CM:146.2 xref: SNOMEDCT_US_2023_03_01:187676006 xref: UMLS_CUI:C0153385 is_a: DOID:8557 ! oropharynx cancer [Term] id: DOID:8689 name: anorexia nervosa def: "An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image." [url:http\://en.wikipedia.org/wiki/Anorexia_nervosa] subset: NCIthesaurus xref: ICD10CM:F50.0 xref: ICD9CM:307.1 xref: MESH:D000856 xref: NCI:C34387 xref: SNOMEDCT_US_2023_03_01:192445002 xref: UMLS_CUI:C0003125 is_a: DOID:8670 ! eating disorder [Term] id: DOID:869 name: cholesteatoma def: "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." [url:https\://en.wikipedia.org/wiki/Cholesteatoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/26223725] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10422 xref: ICD10CM:H71.9 xref: ICD9CM:385.30 xref: MESH:D002781 xref: NCI:C2944 xref: SNOMEDCT_US_2023_03_01:155244001 xref: UMLS_CUI:C0008373 is_a: DOID:161 ! keratosis [Term] id: DOID:8690 name: obsolete Mycosis fungoides involving lymph nodes of head, face, and neck synonym: "Mycosis fungoides involving lymph nodes of head, face and neck" EXACT [] synonym: "Mycosis fungoides of lymph nodes of head, face and/or neck (disorder)" EXACT [] synonym: "Mycosis fungoides of the lymph nodes of head, face and neck (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8691 name: mycosis fungoides alt_id: DOID:8737 comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "mycosis fungoides lymphoma" EXACT [] xref: GARD:3863 xref: ICD10CM:C84.0 xref: ICD9CM:202.1 xref: ICDO:9700/3 xref: MESH:D009182 xref: MIM:254400 xref: NCI:C3246 xref: SNOMEDCT_US_2023_03_01:118618005 xref: UMLS_CUI:C0026948 is_a: DOID:0060061 ! primary cutaneous T-cell non-Hodgkin lymphoma [Term] id: DOID:8692 name: myeloid leukemia alt_id: DOID:8878 alt_id: DOID:8879 alt_id: DOID:8910 alt_id: DOID:9066 alt_id: DOID:9126 def: "A leukemia that is located_in myeloid tissue." [url:http\://en.wikipedia.org/wiki/Myeloid_leukemia] subset: DO_RAD_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "leukaemia myelogenous" EXACT [] synonym: "leukemia myelogenous" EXACT [] synonym: "myeloid granulocytic leukaemia" EXACT [] synonym: "myeloid granulocytic leukemia" EXACT [] synonym: "myeloid leukaemia" EXACT [] synonym: "Non-Lymphocytic Leukemia" EXACT [] xref: GARD:8226 xref: ICD10CM:C92 xref: ICD9CM:205 xref: ICDO:9860/3 xref: MESH:D007951 xref: NCI:C3172 xref: SNOMEDCT_US_2023_03_01:269631008 xref: UMLS_CUI:C0023470 is_a: DOID:1240 ! leukemia [Term] id: DOID:8696 name: subacute monocytic leukemia alt_id: DOID:8898 xref: ICD9CM:206.2 xref: SNOMEDCT_US_2023_03_01:95276000 xref: UMLS_CUI:C0152275 is_a: DOID:8527 ! monocytic leukemia [Term] id: DOID:870 name: neuropathy def: "A nervous system disease that is located_in nerves or nerve cells." [url:http\://en.wikipedia.org/wiki/Neuropathy_%28disambiguation%29] subset: NCIthesaurus synonym: "peripheral neuropathy" EXACT [] xref: ICD10CM:G62.9 xref: NCI:C4731 xref: SNOMEDCT_US_2023_03_01:42658009 xref: UMLS_CUI:C0442874 is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:8701 name: obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face and neck" EXACT [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck" RELATED [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and neck (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and/or neck (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8702 name: cheek mucosa cancer subset: NCIthesaurus synonym: "malignant neoplasm of buccal mucosa" EXACT [] synonym: "malignant neoplasm of cheek, inner aspect" EXACT [] synonym: "malignant neoplasm of the Buccal Mucosa" EXACT [] synonym: "malignant tumor of buccal mucosa" EXACT [] xref: ICD10CM:C06.0 xref: ICD9CM:145.0 xref: NCI:C9320 xref: SNOMEDCT_US_2023_03_01:93735006 xref: UMLS_CUI:C0153373 is_a: DOID:8618 ! oral cavity cancer [Term] id: DOID:8703 name: obsolete penis herpetic infectious disease def: "A genital herpes that results_in infection located_in skin of penis, has_material_basis_in Human herpesvirus 1 and Human herpesvirus 2 and has_symptom lesions, and has_symptom swollen glands in the groin area." [url:http\://kidshealth.org/parent/infections/std/herpes.htm] synonym: "Herpetic infection of penis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8704 name: genital herpes alt_id: DOID:8982 def: "A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands." [url:http\://www.cdc.gov/std/herpes/stdfact-herpes.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: sexually_transmitted_infectious_disease synonym: "Genital herpes simplex" EXACT [] synonym: "Herpes Genitalis" EXACT [] synonym: "venereal herpes" EXACT [] synonym: "Virus-Genital Herpes" EXACT [] xref: ICD9CM:054.1 xref: MESH:D006558 xref: NCI:C14364 xref: SNOMEDCT_US_2023_03_01:154333002 xref: UMLS_CUI:C0019342 is_a: DOID:8566 ! herpes simplex [Term] id: DOID:8712 name: neurofibromatosis alt_id: DOID:14750 alt_id: DOID:8711 alt_id: DOID:9137 comment: This disease may be obsoleted in the future. Diseases previously classified as neurofibromatosis 2 (DOID:0111252) and neurofibromatosis 3 (DOID:0070480 and DOID:0070481) have been reclassified by international consensus as subclasses of schwannomatosis. For details refer to definition sources for neurofibromatosis 1 (DOID:0111253). subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:10420 xref: ICD10CM:Q85.0 xref: ICD9CM:237.7 xref: MESH:D017253 xref: NCI:C6727 xref: ORDO:634518 xref: SNOMEDCT_US_2023_03_01:19133005 xref: UMLS_CUI:C0162678 xref: UMLS_CUI:C0495632 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy property_value: broadMatch "ORDO:634518" xsd:string property_value: exactMatch "GARD:10420" xsd:string property_value: exactMatch "ICD10CM:Q85.0" xsd:string property_value: exactMatch "ICD9CM:237.7" xsd:string property_value: exactMatch "MESH:D017253" xsd:string property_value: exactMatch "NCI:C6727" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:19133005" xsd:string property_value: exactMatch "UMLS_CUI:C0162678" xsd:string property_value: exactMatch "UMLS_CUI:C0495632" xsd:string property_value: narrowMatch "ICD10CM:Q85.00" xsd:string [Term] id: DOID:8716 name: obsolete lymphosarcoma and reticulosarcoma alt_id: DOID:8727 alt_id: DOID:8728 alt_id: DOID:8764 alt_id: DOID:8789 alt_id: DOID:8829 alt_id: DOID:8890 alt_id: DOID:8933 alt_id: DOID:9044 alt_id: DOID:9172 alt_id: DOID:9209 synonym: "Lymphosarcoma and reticulosarcoma (disorder)" EXACT [] synonym: "Other named variants of lymphosarcoma and reticulosarcoma" EXACT [] synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving intra-abdominal lymph nodes" EXACT [] synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving intrapelvic lymph nodes" EXACT [] synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving intrathoracic lymph nodes" EXACT [] synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of axilla and upper limb" EXACT [] synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face and neck" EXACT [] synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face, and neck" EXACT [] synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of inguinal region and lower limb" EXACT [] synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of multiple sites" EXACT [] synonym: "Other named variants of lymphosarcoma and reticulosarcoma involving spleen" EXACT [] synonym: "Other named variants of lymphosarcoma and reticulosarcoma, unspecified site" EXACT [] is_obsolete: true [Term] id: DOID:8717 name: decubitus ulcer alt_id: DOID:8808 alt_id: DOID:9002 alt_id: DOID:9029 alt_id: DOID:9129 def: "A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure." [url:https\://pubmed.ncbi.nlm.nih.gov/37590857/, url:https\://www.ncbi.nlm.nih.gov/books/NBK553107/] subset: NCIthesaurus synonym: "bedsore" RELATED [] synonym: "Decubitus (pressure) ulcer" EXACT [] synonym: "Decubitus ulcer any site" EXACT [] synonym: "pressure sores" EXACT [] synonym: "pressure ulcer" EXACT [] xref: ICD10CM:L89 xref: ICD9CM:707.0 xref: MESH:D003668 xref: NCI:C50706 xref: SNOMEDCT_US_2023_03_01:1163215007 xref: UMLS_CUI:C4554531 is_a: DOID:8549 ! chronic ulcer of skin [Term] id: DOID:8718 name: obsolete carcinoma in situ of respiratory system alt_id: DOID:8965 def: "A carcinoma in situ that is characterized by the spread of cancer in the respiratory system and the lack of invasion of surrounding tissues." [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ] synonym: "carcinoma in situ of respiratory tract (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8719 name: in situ carcinoma alt_id: DOID:8793 alt_id: DOID:8821 def: "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues." [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ] subset: DO_RAD_slim subset: NCIthesaurus xref: ICD10CM:D09.9 xref: ICD9CM:230-234.99 xref: MESH:D002278 xref: NCI:C2917 xref: SNOMEDCT_US_2023_03_01:189208007 xref: UMLS_CUI:C0007099 is_a: DOID:0060071 ! pre-malignant neoplasm [Term] id: DOID:872 name: obsolete soft tissue disease alt_id: DOID:14 alt_id: DOID:44 synonym: "Connective and soft tissue disease" EXACT [] synonym: "Connective and soft tissue disorder" EXACT [] synonym: "disease of deep fascial system" EXACT [] synonym: "tissue disease" EXACT [] is_obsolete: true [Term] id: DOID:8725 name: vascular dementia alt_id: DOID:13915 def: "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain." [url:http\://www.mayoclinic.com/health/vascular-dementia/DS00934, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000739.htm] subset: NCIthesaurus synonym: "Multi Infarct Dementia" EXACT [] synonym: "multifocal dementia" EXACT [] xref: ICD10CM:F01 xref: ICD9CM:290.4 xref: MESH:D015140 xref: MESH:D015161 xref: NCI:C34522 xref: NCI:C34525 xref: SNOMEDCT_US_2023_03_01:192165000 xref: SNOMEDCT_US_2023_03_01:56267009 xref: UMLS_CUI:C0011263 xref: UMLS_CUI:C0011269 is_a: DOID:1307 ! dementia [Term] id: DOID:8729 name: milker's nodule def: "A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy." [url:http\://www.cfsph.iastate.edu/FastFacts/pdfs/pseudocowpox_F.pdf] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease synonym: "milker nodule" EXACT [] synonym: "Milkers' node" EXACT [] synonym: "Paravaccinia" EXACT [] synonym: "Pseudocowpox" RELATED [] xref: ICD10CM:B08.04 xref: ICD9CM:051.9 xref: MESH:D011213 xref: SNOMEDCT_US_2023_03_01:266193008 xref: UMLS_CUI:C0026143 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:873 name: anaerobic pneumonia def: "An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease." [url:http\://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg] subset: DO_infectious_disease_slim synonym: "pneumonia due to anaerobes" EXACT [] xref: ICD9CM:482.81 xref: UMLS_CUI:C0375327 is_a: DOID:0050152 ! aspiration pneumonia [Term] id: DOID:8731 name: carotid body cancer def: "A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery." [url:http\://www.wrongdiagnosis.com/medical/carotid_body_tumor.htm] subset: NCIthesaurus synonym: "cancer of carotid body" RELATED [] synonym: "malignant Carotid body Paraganglioma" EXACT [] synonym: "malignant carotid body tumor" EXACT [] xref: ICD10CM:C75.4 xref: ICD9CM:194.5 xref: NCI:C3574 xref: SNOMEDCT_US_2023_03_01:93740003 xref: UMLS_CUI:C0153656 is_a: DOID:175 ! vascular cancer [Term] id: DOID:8736 name: smallpox def: "A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus, which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk." [url:http\://www.who.int/csr/disease/smallpox/en/] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Ordinary smallpox" EXACT [] xref: GARD:7444 xref: ICD10CM:B03 xref: ICD9CM:050 xref: MESH:D012899 xref: NCI:C35027 xref: SNOMEDCT_US_2023_03_01:266193008 xref: UMLS_CUI:C0037354 is_a: DOID:37 ! skin disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:8738 name: leukoplakia of penis subset: NCIthesaurus synonym: "Kraurosis of penis" EXACT [] synonym: "Penile Leukoplakia" EXACT [] xref: ICD10CM:N48.0 xref: ICD9CM:607.0 xref: MESH:D052798 xref: NCI:C3151 xref: SNOMEDCT_US_2023_03_01:266639006 xref: UMLS_CUI:C0022782 is_a: DOID:1529 ! penile disease [Term] id: DOID:874 name: bacterial pneumonia alt_id: DOID:13815 def: "A pneumonia involving inflammation of the lungs caused by bacteria." [url:http\://en.wikipedia.org/wiki/Bacterial_pneumonia] subset: DO_infectious_disease_slim subset: GOLD subset: NCIthesaurus synonym: "gram-negative pneumonia" EXACT [] synonym: "Pneumonia due to other gram-negative bacteria" EXACT [] xref: ICD10CM:J15.9 xref: ICD9CM:482.9 xref: MESH:D018410 xref: NCI:C26704 xref: SNOMEDCT_US_2023_03_01:53084003 xref: UMLS_CUI:C0004626 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:552 ! pneumonia [Term] id: DOID:8741 name: seborrheic dermatitis alt_id: DOID:8740 def: "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000963.htm] subset: NCIthesaurus synonym: "seborrhea" EXACT [] synonym: "Seborrhoeic dermatitis" EXACT [] synonym: "Seborrhoeic eczema" EXACT [] synonym: "SKIN SEBORRHEIC" EXACT [] xref: ICD10CM:L21 xref: ICD9CM:690.1 xref: MESH:D012628 xref: NCI:C111888 xref: SNOMEDCT_US_2023_03_01:156328004 xref: UMLS_CUI:C0036508 is_a: DOID:2723 ! dermatitis [Term] id: DOID:8742 name: obsolete Hodgkin's granuloma involving lymph nodes of head, face, and neck synonym: "Hodgkin's granuloma involving lymph nodes of head, face and neck" EXACT [] synonym: "Hodgkin's granuloma of lymph nodes of head, face and neck (disorder)" EXACT [] synonym: "Hodgkin's granuloma of lymph nodes of head, face and/or neck (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8743 name: erythema infectiosum subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Fifth disease" EXACT [] xref: ICD10CM:B08.3 xref: ICD9CM:057.0 xref: MESH:D016731 xref: NCI:C84695 xref: SNOMEDCT_US_2023_03_01:34730008 xref: UMLS_CUI:C0085273 is_a: DOID:8672 ! viral exanthem [Term] id: DOID:8745 name: obsolete universal ulcerative colitis synonym: "chronic universal ulcerative colitis" EXACT [] synonym: "universal ulcerative (chronic) colitis" EXACT [] is_obsolete: true [Term] id: DOID:8747 name: obsolete subacute myeloid leukemia alt_id: DOID:8746 alt_id: DOID:8993 is_obsolete: true [Term] id: DOID:8748 name: obsolete acute dermatitis due to solar radiation is_obsolete: true [Term] id: DOID:8749 name: obsolete actinic reticuloid and actinic granuloma is_obsolete: true [Term] id: DOID:8751 name: obsolete Hodgkin's granuloma involving intrathoracic lymph nodes is_obsolete: true [Term] id: DOID:8752 name: obsolete tuberculous pneumonia alt_id: DOID:14009 def: "A pulmonary tuberculosis in which dissemination of the infection by Mycobacterium tuberculosis has occurred to parts of the same lung or the opposite lung through rupture of a caseous lymph node into a bronchus." [url:http\://www.bmj.com/cgi/reprint/1/4608/741.pdf] subset: gram-positive_bacterial_infectious_disease synonym: "tuberculous bronchopneumonia" EXACT [] is_obsolete: true [Term] id: DOID:8754 name: obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb" RELATED [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and lower limb (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8757 name: gastric mucosal hypertrophy alt_id: DOID:9134 alt_id: DOID:9242 comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "familial giant hypertrophic gastritis" EXACT [] synonym: "Giant rugal hypertrophy of stomach" EXACT [] synonym: "hypertrophic gastritis" EXACT [] synonym: "hypertrophic gastropathy" EXACT [] synonym: "MENETRIER DISEASE" EXACT [] xref: ICD10CM:K29.6 xref: ICD9CM:535.2 xref: MESH:D005758 xref: MIM:137280 xref: NCI:C67277 xref: SNOMEDCT_US_2023_03_01:60002000 xref: UMLS_CUI:C0017155 is_a: DOID:4029 ! gastritis [Term] id: DOID:8758 name: obsolete lymphosarcoma involving lymph nodes of multiple sites is_obsolete: true [Term] id: DOID:876 name: pyomyositis subset: DO_rare_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "Tropical pyomyositis" EXACT [] xref: GARD:4614 xref: ICD10CM:M60.0 xref: ICD9CM:040.81 xref: MESH:D052880 xref: NCI:C128382 xref: SNOMEDCT_US_2023_03_01:186430009 xref: UMLS_CUI:C0041188 is_a: DOID:633 ! myositis [Term] id: DOID:8761 name: acute megakaryocytic leukemia alt_id: DOID:9009 def: "An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers." [url:https\://en.wikipedia.org/wiki/Acute_megakaryoblastic_leukemia, url:https\://pubmed.ncbi.nlm.nih.gov/26228843/, url:https\://www.orpha.net/data/patho/GB/uk-AMLM7.pdf] subset: DO_RAD_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Megakaryocytic myelosis" EXACT [] synonym: "Thrombocytic leukaemia" EXACT [] xref: GARD:524 xref: ICD10CM:C94.2 xref: ICD9CM:207.2 xref: ICDO:9910/3 xref: MESH:D007947 xref: NCI:C3170 xref: SNOMEDCT_US_2023_03_01:52220008 xref: UMLS_CUI:C0023462 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:8762 name: obsolete Herpes simplex virus otitis externa def: "A Simplexvirus infectious disease that results_in inflammation located_in external ear, has_material_basis_in Human herpesvirus 1 or has-agent Human herpesvirus 2 and has_symptom vesicles in the ear canal." [url:http\://books.google.com/books?id=V5Snw0Q8LrEC&pg=PA53&lpg] synonym: "Herpes simplex otitis externa (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8765 name: obsolete Herpes simplex virus septicemia alt_id: DOID:8971 def: "A Simplexvirus infectious disease that results in inflammatory response by the immune system of the body to Human herpesvirus 1 or Human herpesvirus 2 in the blood, urine, lungs, skin, or other tissues. The symptoms include fever, chills, rapid breathing, and rapid heart rate." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001355.htm] synonym: "Herpes simplex septicemia (disorder)" EXACT [] synonym: "visceral herpes simplex" EXACT [] is_obsolete: true [Term] id: DOID:8766 name: obsolete lymphosarcoma involving intra-abdominal lymph nodes is_obsolete: true [Term] id: DOID:8767 name: obsolete malignant histiocytosis involving lymph nodes of axilla and upper limb is_obsolete: true [Term] id: DOID:8768 name: obsolete nodular lymphoma involving spleen is_obsolete: true [Term] id: DOID:8769 name: obsolete malignant histiocytosis involving lymph nodes of inguinal region and lower limb synonym: "malignant histiocytosis of lymph nodes of inguinal region and lower limb (disorder)" EXACT [] synonym: "malignant histiocytosis of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8770 name: obsolete reticulosarcoma involving intra-abdominal lymph nodes synonym: "Reticulosarcoma of intra-abdominal lymph nodes" EXACT [] synonym: "Reticulosarcoma of intra-abdominal lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8771 name: contagious pustular dermatitis def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis." [url:http\://en.wikipedia.org/wiki/Orf_%28disease%29, url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5503a1.htm] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease synonym: "Ecthyma contagiosum" EXACT [] synonym: "Ecthyma, Contagious" EXACT [] synonym: "Orf" EXACT [] synonym: "scabby mouth" EXACT [] synonym: "sheep pox" EXACT [] synonym: "thistle disease" EXACT [] xref: ICD10CM:B08.02 xref: ICD9CM:051.2 xref: MESH:D004474 xref: SNOMEDCT_US_2023_03_01:74050005 xref: UMLS_CUI:C0013570 is_a: DOID:37 ! skin disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:8773 name: obsolete nodular lymphoma involving lymph nodes of head, face, and neck synonym: "nodular lymphoma involving lymph nodes of head, face and neck" EXACT [] synonym: "nodular lymphoma of lymph nodes of head, face and neck (disorder)" EXACT [] synonym: "nodular lymphoma of lymph nodes of head, face, and neck (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8775 name: obsolete ulcerative proctosigmoiditis alt_id: DOID:3129 synonym: "chronic ulcerative rectosigmoiditis (disorder)" EXACT [] synonym: "proctosigmoiditis" EXACT [] synonym: "Proctosigmoiditis (disorder)" EXACT [] synonym: "ulcerative (chronic) proctosigmoiditis" EXACT [] synonym: "ulcerative proctosigmoiditis" EXACT [] is_obsolete: true [Term] id: DOID:8778 name: Crohn's disease alt_id: DOID:8784 alt_id: DOID:8855 alt_id: DOID:8942 def: "An intestinal disease that involves inflammation located_in intestine." [url:http\://en.wikipedia.org/wiki/Chron%27s_disease, url:https\://www.genome.gov/Genetic-Disorders/Crohns-Disease] comment: MESH:C536215 added from NeuroDevNet [WAK]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Crohn disease" EXACT [] synonym: "Crohn's disease of colon" EXACT [] synonym: "Crohn's disease of large bowel" EXACT [] synonym: "Granulomatous Colitis" EXACT [] synonym: "Pediatric Crohn's disease" EXACT [] xref: EFO:0000384 xref: GARD:10232 xref: ICD10CM:K50.1 xref: ICD9CM:555.1 xref: MESH:D003424 xref: NCI:C37262 xref: SNOMEDCT_US_2023_03_01:7620006 xref: UMLS_CUI:C0156147 is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:8781 name: rubella alt_id: DOID:11765 alt_id: DOID:1463 alt_id: DOID:1464 alt_id: DOID:8780 alt_id: DOID:8816 alt_id: DOID:8909 alt_id: DOID:9106 alt_id: DOID:9116 alt_id: DOID:9162 alt_id: DOID:9179 def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis." [url:http\://en.wikipedia.org/wiki/Rubella] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "german measles" EXACT [] xref: GARD:4742 xref: ICD10CM:B06.9 xref: ICD9CM:056 xref: MESH:D012409 xref: NCI:C85051 xref: SNOMEDCT_US_2023_03_01:266192003 xref: UMLS_CUI:C0035920 is_a: DOID:2365 ! West Nile encephalitis [Term] id: DOID:8785 name: obsolete postherpetic polyneuropathy def: "A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching." [url:http\://www.mayoclinic.com/health/postherpetic-neuralgia/DS00277] is_obsolete: true [Term] id: DOID:8787 name: disseminated chorioretinitis xref: ICD10CM:H30.1 xref: ICD9CM:363.1 xref: SNOMEDCT_US_2023_03_01:78769001 xref: UMLS_CUI:C0154879 is_a: DOID:8886 ! chorioretinitis [Term] id: DOID:8791 name: breast carcinoma in situ def: "An in situ carcinoma that is located_in the breast." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26431342] synonym: "carcinoma in situ of breast" EXACT [] synonym: "Non-Infiltrating carcinoma of breast" EXACT [] xref: ICD10CM:D05 xref: ICD9CM:233.0 xref: MESH:D000071960 xref: SNOMEDCT_US_2023_03_01:154636004 xref: UMLS_CUI:C0154084 is_a: DOID:3463 ! breast disease is_a: DOID:8719 ! in situ carcinoma property_value: exactMatch "MESH:D000071960" xsd:string [Term] id: DOID:8792 name: eye carcinoma in situ def: "A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues." [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ] synonym: "carcinoma in situ of eye" EXACT [] xref: ICD10CM:D09.2 xref: ICD9CM:234.0 xref: SNOMEDCT_US_2023_03_01:92590009 xref: UMLS_CUI:C0154094 is_a: DOID:5614 ! eye disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:8794 name: obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes" RELATED [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes [dup] (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8795 name: obsolete Hodgkin's granuloma involving spleen synonym: "Hodgkin's granuloma of spleen" EXACT [] synonym: "Hodgkin's granuloma of spleen (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8798 name: obsolete Hodgkin's lymphoma, mixed cellularity, involving spleen synonym: "Hodgkin's disease, mixed cellularity of spleen" EXACT [] synonym: "Hodgkin's disease, mixed cellularity of spleen (disorder)" EXACT [] synonym: "Hodgkin's disease, mixed cellularity, involving spleen" RELATED [] is_obsolete: true [Term] id: DOID:8800 name: lung carcinoma in situ def: "An in situ carcinoma that is located_in the lung." [url:https\://www.cancer.org/treatment/understanding-your-diagnosis/tests/understanding-your-pathology-report/lung-pathology/lung-cancer-in-situ-pathology.html] xref: ICD10CM:D02.2 xref: ICD9CM:231.2 xref: SNOMEDCT_US_2023_03_01:189262006 xref: UMLS_CUI:C0154071 is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:8802 name: trachea carcinoma in situ def: "An in situ carcinoma that is located_in the trachea." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076722/] subset: NCIthesaurus synonym: "carcinoma in situ of trachea" EXACT [] synonym: "Tracheal carcinoma In situ" EXACT [] xref: ICD10CM:D02.1 xref: ICD9CM:231.1 xref: NCI:C3639 xref: SNOMEDCT_US_2023_03_01:92772005 xref: UMLS_CUI:C0154070 is_a: DOID:3225 ! tracheal disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:8803 name: obsolete repetitive intrusions of sleep synonym: "Repetitive intrusions of sleep (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8805 name: intermediate coronary syndrome subset: NCIthesaurus synonym: "Angina at rest" EXACT [] synonym: "Anginal chest pain at rest" EXACT [] synonym: "Impending infarction" EXACT [] synonym: "Preinfarction angina" EXACT [] synonym: "Unstable angina" EXACT [] synonym: "Worsening angina" EXACT [] xref: ICD10CM:I20.0 xref: ICD9CM:411.1 xref: MESH:D000789 xref: NCI:C66911 xref: SNOMEDCT_US_2023_03_01:155308009 xref: UMLS_CUI:C0002965 is_a: DOID:3393 ! coronary artery disease [Term] id: DOID:8806 name: obsolete malignant histiocytosis involving intrapelvic lymph nodes synonym: "malignant histiocytosis of intrapelvic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8807 name: obsolete allergic gastroenteritis and colitis is_obsolete: true [Term] id: DOID:8811 name: obsolete malignant histiocytosis involving intrathoracic lymph nodes synonym: "malignant histiocytosis of intrathoracic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8812 name: obsolete Measles virus otitis media def: "A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear." [url:http\://books.google.com/books?id=tvtJabldoKgC&pg=PA2296&lpg=PA2296&dq#v=onepage&q&f=false] synonym: "postmeasles otitis media" EXACT [] is_obsolete: true [Term] id: DOID:882 name: heterophyiasis def: "A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Heterophyiasis.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "heterophyes infectious disease" EXACT [] xref: ICD10CM:B66.8 xref: ICD9CM:121.6 xref: NCI:C128389 xref: SNOMEDCT_US_2023_03_01:22905009 xref: UMLS_CUI:C0152071 is_a: DOID:114 ! heart disease is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:936 ! brain disease [Term] id: DOID:8820 name: obsolete ulcerative ileocolitis synonym: "chronic ulcerative ileocolitis" EXACT [] synonym: "chronic ulcerative ileocolitis (disorder)" EXACT [] synonym: "ulcerative (chronic) ileocolitis" EXACT [] is_obsolete: true [Term] id: DOID:8825 name: obsolete Hodgkin's paragranuloma involving spleen synonym: "Hodgkin's Paragranuloma Involving Spleen" EXACT [] synonym: "Hodgkin's paragranuloma of spleen" EXACT [] synonym: "Hodgkin's paragranuloma of spleen (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8826 name: colon carcinoma in situ def: "An intestine carcinoma in situ that is located_in the colon." [url:https\://www.ncbi.nlm.nih.gov/pubmed/622667] synonym: "carcinoma in situ of colon" EXACT [] synonym: "stage 0 Colonic carcinoma" EXACT [] xref: ICD10CM:D01.0 xref: ICD9CM:230.3 xref: SNOMEDCT_US_2023_03_01:92568009 xref: UMLS_CUI:C0154061 is_a: DOID:5353 ! colonic disease is_a: DOID:9024 ! intestine carcinoma in situ [Term] id: DOID:8828 name: obsolete systemic inflammatory response syndrome synonym: "SIRS" EXACT [] synonym: "systemic inflammatory response syndrome (SIRS) NOS" EXACT [] synonym: "systemic inflammatory response syndrome, unspecified" EXACT [] is_obsolete: true [Term] id: DOID:883 name: parasitic helminthiasis infectious disease alt_id: DOID:10693 alt_id: DOID:3563 alt_id: DOID:458 alt_id: DOID:932 def: "A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes." [url:http\://en.wikipedia.org/wiki/Helminth, url:http\://en.wikipedia.org/wiki/Helminthiasis] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "helminth infection" EXACT [] synonym: "helminthiasis" EXACT [] synonym: "helminthosis" EXACT [] synonym: "worm infection" EXACT [] xref: ICD10CM:B83.9 xref: ICD9CM:120-129.99 xref: MESH:D006373 xref: NCI:C84751 xref: SNOMEDCT_US_2023_03_01:187518006 xref: UMLS_CUI:C0018889 is_a: DOID:1398 ! parasitic infectious disease [Term] id: DOID:8832 name: obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites" RELATED [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites" EXACT [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8836 name: obsolete Burkitt's tumor or lymphoma involving lymph nodes of head, face, and neck synonym: "Burkitt's lymphoma of lymph nodes of head, face and neck (disorder)" EXACT [] synonym: "Burkitt's tumor or lymphoma involving lymph nodes of head, face and neck" EXACT [] is_obsolete: true [Term] id: DOID:8837 name: obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of head, face, and neck synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and neck (disorder)" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and/or neck (disorder)" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis, involving lymph nodes of head, face and neck" EXACT [] is_obsolete: true [Term] id: DOID:8838 name: Hodgkin's lymphoma, nodular sclerosis subset: NCIthesaurus synonym: "Classical Hodgkin lymphoma, nodular sclerosis" EXACT [] xref: ICD10CM:C81.1 xref: ICD9CM:201.5 xref: NCI:C3518 xref: SNOMEDCT_US_2023_03_01:52248008 xref: UMLS_CUI:C0152268 is_a: DOID:8567 ! Hodgkin's lymphoma [Term] id: DOID:8839 name: obsolete herpes zoster keratoconjunctivitis def: "An ophthalmic herpes zoster that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection and has_symptom red eye, has_symptom irritation, and has_symptom pain." [url:http\://books.google.com/books?id=fAlrbE9zBIwC&pg=PA240&lpg#v=onepage&q&f=false] synonym: "Herpes zoster keratitis" EXACT [] is_obsolete: true [Term] id: DOID:884 name: metagonimiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Metagonimiasis.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Infection by Metagonimus yokogawai" EXACT [] xref: ICD10CM:B66.8 xref: ICD9CM:121.5 xref: MESH:D014201 xref: NCI:C128390 xref: SNOMEDCT_US_2023_03_01:37832003 xref: UMLS_CUI:C0025530 is_a: DOID:5295 ! intestinal disease is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:8844 name: obsolete tuberculous erythema nodosum subset: gram-positive_bacterial_infectious_disease synonym: "Erythema nodosum with hypersensitivity reaction in tuberculosis" EXACT [] synonym: "erythema nodosum with hypersensitivity reaction in tuberculosis" EXACT [] synonym: "Erythema nodosum with tuberculosis NOS (disorder)" EXACT [] synonym: "Erythema nodosum, tuberculous" EXACT [] synonym: "Tuberculous erythema nodosum" EXACT [] synonym: "Tuberculous erythema nodosum (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8847 name: obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of multiple sites synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites (disorder)" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis, involving lymph nodes of multiple sites" RELATED [] synonym: "nodular Sclerosis Hodgkin's Lymphoma stage III" EXACT [] is_obsolete: true [Term] id: DOID:8849 name: sublingual gland cancer def: "A salivary gland cancer that is located_in the sublingual gland." [url:http\://en.wikipedia.org/wiki/Sublingual_gland] subset: NCIthesaurus synonym: "malignant tumor of sublingual gland" EXACT [] synonym: "malignant tumor of the Sublingual gland" EXACT [] xref: ICD10CM:C08.1 xref: ICD9CM:142.2 xref: NCI:C3527 xref: SNOMEDCT_US_2023_03_01:94076001 xref: UMLS_CUI:C0153361 is_a: DOID:8850 ! salivary gland cancer [Term] id: DOID:885 name: fascioliasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Fascioliasis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Fasciola hepatica infection" EXACT [] synonym: "Infection by Fasciola" EXACT [] synonym: "Liver flukes" EXACT [] synonym: "Sheep liver fluke infection" EXACT [] xref: GARD:6428 xref: ICD10CM:B66.3 xref: ICD9CM:121.3 xref: MESH:D005211 xref: NCI:C128387 xref: SNOMEDCT_US_2023_03_01:187125007 xref: UMLS_CUI:C0015652 is_a: DOID:4138 ! bile duct disease is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:8850 name: salivary gland cancer alt_id: DOID:8873 alt_id: DOID:9148 def: "An oral cavity cancer that is located_in the salivary gland." [url:http\://www.cancer.gov/dictionary?CdrID=446528] subset: DO_cancer_slim subset: TopNodes_DOcancerslim synonym: "malignant neoplasm of salivary gland" EXACT [] xref: ICD10CM:C08 xref: ICD9CM:142.8 xref: SNOMEDCT_US_2023_03_01:187648003 xref: UMLS_CUI:C0153362 is_a: DOID:10854 ! salivary gland disease is_a: DOID:8618 ! oral cavity cancer [Term] id: DOID:8852 name: obsolete Hodgkin's granuloma involving intra-abdominal lymph nodes synonym: "Hodgkin's granuloma of intra-abdominal lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8854 name: obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intrathoracic lymph nodes is_obsolete: true [Term] id: DOID:8857 name: lupus erythematosus def: "An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29366725] subset: NCIthesaurus synonym: "lupus" EXACT [] xref: ICD10CM:L93 xref: ICD9CM:695.4 xref: NCI:C27153 xref: SNOMEDCT_US_2023_03_01:200936003 xref: UMLS_CUI:C0409974 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system [Term] id: DOID:8858 name: tonsil cancer subset: NCIthesaurus synonym: "malignant neoplasm of faucial tonsil" EXACT [] synonym: "malignant neoplasm of palatine tonsil" EXACT [] synonym: "malignant neoplasm of tonsil, faucial" EXACT [] synonym: "malignant Tonsillar tumor" EXACT [] synonym: "malignant tumor of tonsil" EXACT [] xref: ICD10CM:C09 xref: ICD9CM:146.0 xref: MESH:D014067 xref: NCI:C7404 xref: SNOMEDCT_US_2023_03_01:93937006 xref: UMLS_CUI:C0751560 is_a: DOID:0060073 ! lymphatic system cancer is_a: DOID:8557 ! oropharynx cancer [Term] id: DOID:8860 name: obsolete lymphosarcoma involving spleen is_obsolete: true [Term] id: DOID:8861 name: pulmonary subvalvular stenosis subset: NCIthesaurus synonym: "Congenital Infundibular Stenosis" EXACT [] synonym: "Infundibular pulmonic stenosis" EXACT [] synonym: "Infundibular pulmonic stenosis, congenital" EXACT [] synonym: "pulmonary infundibular stenosis" EXACT [] synonym: "Subvalvular pulmonic stenosis" EXACT [] xref: ICD10CM:Q24.3 xref: ICD9CM:746.83 xref: MESH:D011662 xref: NCI:C34961 xref: SNOMEDCT_US_2023_03_01:204370002 xref: UMLS_CUI:C0034084 is_a: DOID:6420 ! pulmonary valve stenosis [Term] id: DOID:8864 name: acute monocytic leukemia alt_id: DOID:9208 def: "A monocytic leukemia where the majority of monocytic cells are promonocytes." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=18.09d&ns=ncit&code=C4861] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "acute Monoblastic Leukemia and acute Monocytic Leukemia" EXACT [] synonym: "acute monocytic leukaemia" EXACT [] synonym: "acute monocytic leukaemia without mention of remission" EXACT [] synonym: "acute monocytic leukemia without mention of remission" EXACT [] synonym: "acute monocytic leukemia, FAB M5" EXACT [] synonym: "acute monocytic leukemia, morphology" EXACT [] xref: GARD:525 xref: ICD9CM:206.0 xref: ICDO:9891/3 xref: MESH:D007948 xref: MIM:151380 xref: SNOMEDCT_US_2023_03_01:91859000 xref: UMLS_CUI:C0023465 is_a: DOID:8527 ! monocytic leukemia [Term] id: DOID:8866 name: actinic keratosis subset: NCIthesaurus synonym: "actinic (Solar) Keratosis" EXACT [] synonym: "Senile hyperkeratosis" EXACT [] synonym: "SK - Solar keratosis" EXACT [] synonym: "Solar keratosis" EXACT [] xref: ICD10CM:L57.0 xref: ICD9CM:702.0 xref: ICDO:8070/0 xref: MESH:D055623 xref: NCI:C3148 xref: SNOMEDCT_US_2023_03_01:267858008 xref: UMLS_CUI:C0022602 is_a: DOID:0060071 ! pre-malignant neoplasm [Term] id: DOID:8867 name: molluscum contagiosum def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center." [url:http\://en.wikipedia.org/wiki/Molluscum_contagiosum, url:http\://www.cdc.gov/ncidod/dvrd/molluscum/overview.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: sexually_transmitted_infectious_disease xref: ICD10CM:B08.1 xref: ICD9CM:078.0 xref: MESH:D008976 xref: NCI:C155872 xref: SNOMEDCT_US_2023_03_01:154360009 xref: UMLS_CUI:C0026393 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:8868 name: obsolete Mycosis fungoides involving lymph nodes of multiple sites synonym: "Mycosis fungoides of lymph nodes of multiple sites (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8869 name: neuromyelitis optica def: "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis)." [url:http\://en.wikipedia.org/wiki/Neuromyelitis_optica, url:http\://rarediseases.org/rare-diseases/neuromyelitis-optica/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Devic's disease" EXACT [] synonym: "Devic's syndrome" EXACT [] xref: EFO:0004256 xref: GARD:6267 xref: ICD10CM:G36.0 xref: ICD9CM:341.0 xref: MESH:D009471 xref: NCI:C84934 xref: SNOMEDCT_US_2023_03_01:25044007 xref: UMLS_CUI:C0027873 is_a: DOID:0060004 ! autoimmune disease of central nervous system is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system is_a: DOID:1891 ! optic nerve disease is_a: DOID:319 ! spinal cord disease [Term] id: DOID:887 name: obsolete Trematoda infectious disease def: "A parasitic helminthiasis infectious disease that involves infection by parasitic worms known as flukes, which are carried to various organs through blood stream." [url:http\://en.wikipedia.org/wiki/Trematoda] synonym: "Fluke infection" EXACT [] synonym: "Trematode infestation" EXACT [] is_obsolete: true [Term] id: DOID:8870 name: obsolete nodular lymphoma involving intrathoracic lymph nodes synonym: "nodular lymphoma of intrathoracic lymph nodes" EXACT [] synonym: "nodular lymphoma of intrathoracic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8871 name: obsolete Hodgkin's lymphoma, nodular sclerosis, extranodal and solid organ sites synonym: "Hodgkin's disease, nodular sclerosis, extranodal and solid organ sites" RELATED [] is_obsolete: true [Term] id: DOID:8872 name: penis carcinoma in situ def: "An in situ carcinoma that is located_in the penis." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8126803] subset: NCIthesaurus synonym: "Bowen's disease of penis" EXACT [] synonym: "carcinoma in situ of penis" EXACT [] synonym: "grade III squamous Intraepithelial Lesion of penis" EXACT [] synonym: "Penile intraepithelial neoplasia grade III" EXACT [] synonym: "Queyrat's erythroplasia" EXACT [] xref: ICD10CM:D07.4 xref: ICD9CM:233.5 xref: NCI:C27790 xref: SNOMEDCT_US_2023_03_01:92679008 xref: UMLS_CUI:C0154089 is_a: DOID:1529 ! penile disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:8875 name: obsolete Hodgkin's sarcoma involving lymph nodes of multiple sites synonym: "Hodgkin's sarcoma of lymph nodes of multiple sites (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8876 name: obsolete herpetic vulvovaginitis def: "A genital herpes that results_in infection located_in vulva and located_in vagina, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom fever, has_symptom lymphadenopathy, and has_symptom lesions." [url:http\://books.google.com/books?id=tvtJabldoKgC&pg=PA1889&lpg#v=onepage&q&f=false] synonym: "Herpetic Vulvovaginitis" EXACT [] synonym: "Herpetic vulvovaginitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:888 name: fasciolopsiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Fasciolopsiasis.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Infection by Fasciolopsis buski" EXACT [] synonym: "Infectious Disease by Fasciolopsis" EXACT [] xref: ICD10CM:B66.5 xref: ICD9CM:121.4 xref: MESH:D014201 xref: NCI:C128388 xref: SNOMEDCT_US_2023_03_01:54266002 xref: UMLS_CUI:C0015656 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:8881 name: rosacea subset: NCIthesaurus synonym: "Acne roscea" EXACT [] synonym: "Acne, erythematosa" EXACT [] xref: ICD10CM:L71 xref: ICD9CM:695.3 xref: MESH:D012393 xref: NCI:C97136 xref: SNOMEDCT_US_2023_03_01:1612004 xref: UMLS_CUI:C0035854 is_a: DOID:37 ! skin disease [Term] id: DOID:8883 name: lower lip cancer xref: ICD10CM:C00.1 xref: ICD9CM:140.1 xref: SNOMEDCT_US_2023_03_01:94136008 xref: UMLS_CUI:C0432520 is_a: DOID:8564 ! lip cancer [Term] id: DOID:8886 name: chorioretinitis subset: DO_rare_slim subset: NCIthesaurus synonym: "retinochoroiditis" EXACT [] xref: GARD:6060 xref: ICD10CM:H30.9 xref: ICD9CM:363.20 xref: MESH:D002825 xref: NCI:C110923 xref: SNOMEDCT_US_2023_03_01:270531006 xref: UMLS_CUI:C0008513 is_a: DOID:5614 ! eye disease [Term] id: DOID:889 name: obsolete inborn metabolic brain disease is_obsolete: true [Term] id: DOID:8892 name: pityriasis rosea def: "A dermatitis that is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs." [url:https\://www.mayoclinic.org/diseases-conditions/pityriasis-rosea/symptoms-causes/syc-20376405] subset: NCIthesaurus synonym: "Pityriasis circinata" EXACT [] xref: ICD10CM:L42 xref: ICD9CM:696.3 xref: MESH:D017515 xref: NCI:C26855 xref: SNOMEDCT_US_2023_03_01:156373006 xref: UMLS_CUI:C0032026 is_a: DOID:2723 ! dermatitis [Term] id: DOID:8893 name: psoriasis def: "A skin disease that is characterized by patches of thick red skin and silvery scales." [url:https\://www.cdc.gov/psoriasis/index.htm] comment: Xref MGI.\nUpdate outdated UMLS CUI from C00295134 to C0033860. subset: DO_rare_slim subset: NCIthesaurus xref: EFO:0000676 xref: GARD:10262 xref: ICD10CM:L40 xref: MESH:D011565 xref: MIM:PS177900 xref: NCI:C3346 xref: SNOMEDCT_US_2023_03_01:156369008 xref: UMLS_CUI:C0033860 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue [Term] id: DOID:890 name: mitochondrial encephalomyopathy subset: DO_FlyBase_slim xref: MESH:D017237 xref: SNOMEDCT_US_2023_03_01:447292006 xref: UMLS_CUI:C0162666 is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:8903 name: obsolete Hodgkin's granuloma involving lymph nodes of axilla and upper limb synonym: "Hodgkin's granuloma of lymph nodes of axilla and upper limb (disorder)" EXACT [] synonym: "Hodgkin's granuloma of lymph nodes of axilla and/or upper limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8904 name: obsolete nodular lymphoma involving lymph nodes of inguinal region and lower limb synonym: "nodular lymphoma of lymph nodes of inguinal region and lower limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8906 name: obsolete herpes zoster otitis externa def: "A Varicellovirus infectious disease that results_in inflammation located_in external ear canal, has_material_basis_in Human herpesvirus 3, has_symptom pain in the outer ear, and has_symptom ear discharge." [url:http\://books.google.com/books?id=52s8lgAlRZIC&pg=PA301&lpg#v=onepage&q&f=false] synonym: "Herpes zoster otitis externa" EXACT [] synonym: "Otitis externa due to Herpes zoster (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8907 name: obsolete ulcerative proctitis synonym: "chronic ulcerative proctitis" EXACT [] synonym: "chronic ulcerative proctitis (disorder)" EXACT [] synonym: "Nonspecific ulcerative proctitis (disorder)" EXACT [] synonym: "ulcerative (chronic) proctitis" EXACT [] is_obsolete: true [Term] id: DOID:891 name: progressive myoclonus epilepsy def: "A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death." [url:http\://pn.bmj.com/content/15/3/164.long] comment: OMIM mapping confirmed by DO. [SN].\nOMIM mapping submitted by NeuroDevNet. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "PME" EXACT OMO:0003012 [] synonym: "progressive myoclonic epilepsy" EXACT [] xref: GARD:7140 xref: MESH:D020191 xref: MIM:310370 xref: MIM:PS254800 xref: NCI:C7636 xref: SNOMEDCT_US_2023_03_01:192844008 xref: UMLS_CUI:C0751778 is_a: DOID:0050706 ! variable age at onset electroclinical syndrome property_value: exactMatch "NCI:C7636" xsd:string [Term] id: DOID:8912 name: tinea nigra def: "A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions." [url:http\://www.mycology.adelaide.edu.au/Mycoses/Superficial/Tinea_nigra/index.html] subset: DO_infectious_disease_slim synonym: "Infection by Cladosporium werneckii" EXACT [] synonym: "Keratomycosis nigricans" EXACT [] synonym: "microsporosis nigra" RELATED [] synonym: "Tinea palmaris nigra" EXACT [] xref: ICD10CM:B36.1 xref: ICD9CM:111.1 xref: MESH:C000656904 xref: SNOMEDCT_US_2023_03_01:1022006 xref: UMLS_CUI:C0152067 is_a: DOID:0050133 ! superficial mycosis [Term] id: DOID:8913 name: dermatophytosis def: "A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. Subtypes are classified by the location on the body." [url:http\://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/index.html, url:https\://en.wikipedia.org/wiki/Dermatophytosis, url:https\://www.cfsph.iastate.edu/Factsheets/pdfs/dermatophytosis.pdf] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "ringworm" EXACT [] xref: ICD10CM:B35 xref: ICD9CM:110 xref: NCI:C26745 xref: SNOMEDCT_US_2023_03_01:154394006 xref: UMLS_CUI:C0011636 is_a: DOID:0050134 ! cutaneous mycosis [Term] id: DOID:8914 name: obsolete Burkitt's tumor or lymphoma involving intrapelvic lymph nodes synonym: "Burkitt's lymphoma of intrapelvic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8915 name: obsolete herpes zoster meningitis def: "A Varicellovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection. The infection has_symptom fever, has_symptom headache, has_symptom cervical rigidity, has_symptom seizure, has_symptom ataxia, and has_symptom skin lesions." [url:http\://synapse.koreamed.org/Synapse/Data/PDFData/0052KJP/kjp-52-705.pdf] is_obsolete: true [Term] id: DOID:8916 name: obsolete mycosis fungoides involving lymph nodes of axilla and upper limb is_obsolete: true [Term] id: DOID:8918 name: obsolete Hodgkin's sarcoma involving lymph nodes of inguinal region and lower limb synonym: "Hodgkin's sarcoma of lymph nodes of inguinal region and lower limb (disorder)" EXACT [] synonym: "Hodgkin's sarcoma of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8919 name: obsolete Mycosis fungoides involving lymph nodes of inguinal region and lower limb synonym: "Mycosis fungoides of lymph nodes of inguinal region and lower limb (disorder)" EXACT [] synonym: "Mycosis fungoides of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8920 name: leukoplakia of vagina def: "A vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin." [url:https\://en.wikipedia.org/wiki/Leukoplakia] subset: NCIthesaurus synonym: "vaginal Leukoplakia" EXACT [] xref: ICD10CM:N89.4 xref: ICD9CM:623.1 xref: NCI:C3663 xref: SNOMEDCT_US_2023_03_01:111420009 xref: UMLS_CUI:C0156385 is_a: DOID:121 ! vaginal disease [Term] id: DOID:8921 name: obsolete noninflammatory vaginal disorder is_obsolete: true [Term] id: DOID:8923 name: skin melanoma alt_id: DOID:0050609 alt_id: DOID:10043 alt_id: DOID:10046 alt_id: DOID:10051 alt_id: DOID:10052 alt_id: DOID:10055 alt_id: DOID:8922 def: "A skin cancer that has_material_basis_in melanocytes." [url:http\://cancergenome.nih.gov/cancersselected/melanoma, url:http\://en.wikipedia.org/wiki/Melanoma, url:http\://www.cancer.gov/dictionary?CdrID=45135] comment: OMIM IDs, MIM:612263 and MIM:608035 represent susceptibility loci[LS]. subset: DO_cancer_slim subset: NCIthesaurus synonym: "cutaneous melanoma" EXACT [] synonym: "malignant ear melanoma" EXACT [] synonym: "malignant lip melanoma" EXACT [] synonym: "malignant lower limb melanoma" EXACT [] synonym: "malignant melanoma of ear and/or external auricular canal" EXACT [] synonym: "malignant melanoma of skin of lower limb" EXACT [] synonym: "malignant melanoma of skin of trunk except scrotum" EXACT [] synonym: "malignant melanoma of skin of upper limb" EXACT [] synonym: "malignant neck melanoma" EXACT [] synonym: "malignant scalp melanoma" EXACT [] synonym: "malignant trunk melanoma" EXACT [] synonym: "malignant upper limb melanoma" EXACT [] xref: ICD10CM:C43.9 xref: ICD9CM:172.9 xref: MESH:C562393 xref: MIM:608035 xref: MIM:612263 xref: NCI:C3510 xref: SNOMEDCT_US_2023_03_01:269577007 xref: UMLS_CUI:C0151779 is_a: DOID:1909 ! melanoma is_a: DOID:4159 ! skin cancer [Term] id: DOID:8924 name: autoimmune thrombocytopenic purpura alt_id: DOID:0050124 alt_id: DOID:2220 def: "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies." [url:https\://rarediseases.org/rare-diseases/immune-thrombocytopenia/] {comment="sn:IEDB"} comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Ideopath thrombocytopenic pur" RELATED [] synonym: "Idiopathic purpura" RELATED [] synonym: "idiopathic thrombocytopenic purpura" EXACT [] synonym: "Immune thrombocytopenic purpura" EXACT [] synonym: "primary thrombocytopenic purpura" EXACT [] synonym: "werlhof's disease" RELATED [] xref: ICD10CM:D69.3 xref: ICD9CM:287.31 xref: MESH:D016553 xref: MIM:188030 xref: NCI:C3446 xref: SNOMEDCT_US_2023_03_01:234490009 xref: UMLS_CUI:C0398650 is_a: DOID:8925 ! primary thrombocytopenia [Term] id: DOID:8925 name: primary thrombocytopenia alt_id: DOID:8945 xref: ICD10CM:D69.4 xref: ICD9CM:287.39 xref: SNOMEDCT_US_2023_03_01:191435001 xref: UMLS_CUI:C0477317 is_a: DOID:0060050 ! autoimmune disease of blood [Term] id: DOID:8927 name: learning disability alt_id: DOID:2847 def: "A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information." [url:http\://en.wikipedia.org/wiki/Learning_disability, url:http\://www.ldonline.org/ldbasics/whatisld] subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "Academic skill disorder" EXACT [] synonym: "learning disorder" EXACT [] xref: ICD10CM:F81.9 xref: MESH:D007859 xref: NCI:C89334 xref: SNOMEDCT_US_2023_03_01:1855002 xref: SNOMEDCT_US_2023_03_01:192531005 xref: UMLS_CUI:C0023186 xref: UMLS_CUI:C0751265 is_a: DOID:0060038 ! specific developmental disorder [Term] id: DOID:8928 name: obsolete lymphosarcoma involving lymph nodes of head, face, and neck is_obsolete: true [Term] id: DOID:8929 name: atrophic gastritis alt_id: DOID:9048 alt_id: DOID:9083 subset: NCIthesaurus synonym: "gastric atrophy" EXACT [] xref: ICD10CM:K29.4 xref: ICD9CM:535.1 xref: MESH:D005757 xref: NCI:C7405 xref: SNOMEDCT_US_2023_03_01:155713006 xref: UMLS_CUI:C0017154 is_a: DOID:4029 ! gastritis [Term] id: DOID:893 name: Wilson disease def: "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes." [url:https\://pubmed.ncbi.nlm.nih.gov/32279718/, url:https\://www.genome.gov/Genetic-Disorders/Wilson-Disease] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Cerebral pseudosclerosis" EXACT [] synonym: "hepatolenticular degeneration" EXACT [] synonym: "Westphal pseudosclerosis" EXACT [] synonym: "Westphal-Strumpell syndrome" EXACT [] synonym: "Wilson's disease" EXACT [] xref: GARD:7893 xref: ICD10CM:E83.01 xref: MESH:D006527 xref: MIM:277900 xref: NCI:C84756 xref: SNOMEDCT_US_2023_03_01:88518009 xref: UMLS_CUI:C0019202 is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:8930 name: retromolar area cancer synonym: "malignant tumor of retromolar area" EXACT [] xref: ICD10CM:C06.2 xref: ICD9CM:145.6 xref: SNOMEDCT_US_2023_03_01:363391009 xref: UMLS_CUI:C0153379 is_a: DOID:8618 ! oral cavity cancer [Term] id: DOID:8931 name: Evans' syndrome subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6389 xref: ICD10CM:D69.41 xref: ICD9CM:287.32 xref: MESH:C536380 xref: NCI:C61284 xref: SNOMEDCT_US_2023_03_01:75331009 xref: UMLS_CUI:C0272126 is_a: DOID:8925 ! primary thrombocytopenia [Term] id: DOID:8932 name: obsolete herpes zoster iridocyclitis def: "An ophthalmic herpes zoster that results_in inflammation located_in iris and located_in ciliary body, has_material_basis_in Human herpesvirus 3,which reactivates from the trigeminal ganglion after the primary infection and has_symptom photophobia, has_symptom redness, has_symptom lacrimation, and blurres vision." [url:http\://archopht.ama-assn.org/cgi/reprint/62/4/579.pdf, url:http\://books.google.com/books?id=G6k0tpPMRsIC&pg=PA799&lpg#v=onepage&q&f=false] synonym: "Herpes zoster iridocyclitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8936 name: plantar fascial fibromatosis def: "A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture." [url:https\://en.wikipedia.org/wiki/Plantar_fibromatosis] subset: NCIthesaurus synonym: "Dupuytren's contracture of foot" EXACT [] synonym: "Ledderhose's disease" EXACT [] xref: ICD10CM:M72.2 xref: ICD9CM:728.71 xref: MESH:D000071380 xref: NCI:C4680 xref: SNOMEDCT_US_2023_03_01:240032001 xref: UMLS_CUI:C0158360 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:8937 name: Waldeyer's ring cancer synonym: "malignant neoplasm of Waldeyer's ring" EXACT [] synonym: "malignant tumor of Waldeyer's ring" EXACT [] synonym: "Waldeyer ring cancer" EXACT [] xref: ICD10CM:C14.2 xref: ICD9CM:149.1 xref: SNOMEDCT_US_2023_03_01:94144008 xref: UMLS_CUI:C0153406 is_a: DOID:0060073 ! lymphatic system cancer is_a: DOID:8557 ! oropharynx cancer [Term] id: DOID:8938 name: obsolete reticulosarcoma involving intrathoracic lymph nodes synonym: "Reticulosarcoma of intrathoracic lymph nodes" EXACT [] synonym: "Reticulosarcoma of intrathoracic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8939 name: obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of axilla and upper limb synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and upper limb (disorder)" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and/or upper limb (disorder)" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis, involving lymph nodes of axilla and upper limb" RELATED [] is_obsolete: true [Term] id: DOID:894 name: obsolete nervous system heredodegenerative disease is_obsolete: true [Term] id: DOID:8941 name: seborrheic infantile dermatitis alt_id: DOID:8823 def: "A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp." [url:http\://en.wikipedia.org/wiki/Cradle_cap, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000963.htm] synonym: "Complement 5 dysfunction" EXACT [] synonym: "cradle cap" EXACT [] synonym: "Generalized seborrheic dermatitis of infants" EXACT [] synonym: "Infantile seborrheic dermatitis" EXACT [] synonym: "Infantile seborrhoeic dermatitis" EXACT [] synonym: "Pityriasis capitis" EXACT [] synonym: "seborrhea capitis" EXACT [] synonym: "Seborrhea sicca" EXACT [] synonym: "Seborrhoea capitis" EXACT [] synonym: "Seborrhoeic dermatitis of scalp" EXACT [] synonym: "Seborrhoeic eczema of scalp" EXACT [] xref: ICD10CM:L21.0 xref: ICD9CM:690.11 xref: MESH:D063807 xref: SNOMEDCT_US_2023_03_01:48596006 xref: UMLS_CUI:C0221244 is_a: DOID:8741 ! seborrheic dermatitis [Term] id: DOID:8943 name: lattice corneal dystrophy def: "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface." [url:https\://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm, url:https\://www.omim.org/entry/122200] synonym: "familial amyloid neuropathy, Finnish type" EXACT [] xref: MESH:C537935 xref: MIM:122200 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy [Term] id: DOID:8946 name: severe nonproliferative diabetic retinopathy synonym: "High risk non proliferative diabetic retinopathy" EXACT [] synonym: "Severe NPDR" EXACT [] xref: ICD9CM:362.06 xref: SNOMEDCT_US_2023_03_01:312905005 xref: UMLS_CUI:C0730278 is_a: DOID:8947 ! diabetic retinopathy [Term] id: DOID:8947 name: diabetic retinopathy subset: NCIthesaurus synonym: "Retinal abnormality - diabetes-related" EXACT [] xref: ICD9CM:362.0 xref: MESH:D003930 xref: NCI:C34538 xref: SNOMEDCT_US_2023_03_01:154678005 xref: UMLS_CUI:C0011884 is_a: DOID:2462 ! retinal vascular disease [Term] id: DOID:895 name: obsolete copper metabolism disease synonym: "Copper disorder" EXACT [] synonym: "disorder of copper metabolism" EXACT [] synonym: "disorder of copper metabolism (disorder)" EXACT [] synonym: "disorder of copper metabolism NOS (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8955 name: sideroblastic anemia def: "A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes)." [url:http\://en.wikipedia.org/wiki/Sideroblastic_anemia] subset: DO_rare_slim subset: NCIthesaurus synonym: "ANEMIA SIDEROBLASTIC" EXACT [] synonym: "Anemia, hypochromic with iron loading" EXACT [] xref: GARD:667 xref: ICD10CM:D64.3 xref: ICD9CM:285.0 xref: MESH:D000756 xref: MIM:PS300751 xref: NCI:C36078 xref: SNOMEDCT_US_2023_03_01:154810008 xref: UMLS_CUI:C0002896 is_a: DOID:11252 ! microcytic anemia [Term] id: DOID:8956 name: cowpox def: "A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face." [url:https\://www.nejm.org/doi/10.1056/NEJMicm1702548?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub%3Dwww.ncbi.nlm.nih.gov] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease synonym: "yaba" EXACT [] xref: ICD10CM:B08.010 xref: ICD9CM:051.01 xref: MESH:D015605 xref: SNOMEDCT_US_2023_03_01:154344005 xref: UMLS_CUI:C0010232 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:8958 name: obsolete lymphosarcoma involving lymph nodes of axilla and upper limb is_obsolete: true [Term] id: DOID:8959 name: obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of inguinal region and lower limb is_obsolete: true [Term] id: DOID:896 name: metal metabolism disorder def: "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals." [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_metal_metabolism] synonym: "inborn metal metabolism disorder" EXACT [] xref: MESH:D008664 xref: UMLS_CUI:C0025534 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:8962 name: obsolete Measles virus keratoconjunctivitis def: "A Measles virus infectious disease that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom mucopurulent discharge from the eye, has_symptom pain in the eye, and has_symptom redness." [url:http\://books.google.com/books?id=0Qxnuj3MIUgC&pg=PA112&lpg=PA112&dq#v=onepage&q&f=false] is_obsolete: true [Term] id: DOID:8964 name: obsolete Hodgkin's sarcoma involving spleen synonym: "Hodgkin's sarcoma of spleen" EXACT [] synonym: "Hodgkin's sarcoma of spleen (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8969 name: tonsillar fossa cancer synonym: "malignant neoplasm of tonsillar fossa" EXACT [] synonym: "malignant tumor of tonsillar fossa" EXACT [] xref: ICD10CM:C09.0 xref: ICD9CM:146.1 xref: SNOMEDCT_US_2023_03_01:363394001 xref: UMLS_CUI:C0153384 is_a: DOID:8557 ! oropharynx cancer [Term] id: DOID:8970 name: subacute sclerosing panencephalitis def: "A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant." [url:http\://en.wikipedia.org/wiki/Subacute_sclerosing_panencephalitis] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Immunosuppressive measles encephalitis" EXACT [] synonym: "subacute sclerosing leukoencephalopathy" EXACT [] synonym: "Van Bogaert's sclerosing leukoencephalitis" EXACT [] xref: GARD:7708 xref: ICD10CM:A81.1 xref: ICD9CM:046.2 xref: MESH:D013344 xref: MIM:260470 xref: NCI:C85171 xref: SNOMEDCT_US_2023_03_01:84196008 xref: UMLS_CUI:C0038522 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:8973 name: obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of multiple sites synonym: "Hodgkin's disease, mixed cellularity, involving lymph nodes of multiple sites" RELATED [] synonym: "mixed cellularity Hodgkin's disease stage III" EXACT [] is_obsolete: true [Term] id: DOID:8974 name: obsolete Burkitt's tumor or lymphoma involving lymph nodes of axilla and upper limb synonym: "Burkitt's lymphoma of lymph nodes of axilla and upper limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8976 name: obsolete peripheral lymph node tuberculosis subset: gram-positive_bacterial_infectious_disease synonym: "tuberculosis of peripheral lymph nodes" EXACT [] synonym: "Tuberculosis of peripheral lymph nodes (disorder)" EXACT [] synonym: "Tuberculosis of peripheral lymph nodes NOS (disorder)" EXACT [] synonym: "Tuberculosis of peripheral lymph nodes, unspecified examination" EXACT [] is_obsolete: true [Term] id: DOID:8977 name: obsolete malignant histiocytosis involving lymph nodes of head, face, and neck synonym: "malignant histiocytosis involving lymph nodes of head, face and neck" EXACT [] synonym: "malignant histiocytosis of lymph nodes of head, face and neck (disorder)" EXACT [] synonym: "malignant histiocytosis of lymph nodes of head, face and/or neck (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8978 name: obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of inguinal region and lower limb synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and lower limb (disorder)" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis, involving lymph nodes of inguinal region and lower limb" RELATED [] is_obsolete: true [Term] id: DOID:8979 name: obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intrapelvic lymph nodes synonym: "Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion, involving intrapelvic lymph nodes" RELATED [] is_obsolete: true [Term] id: DOID:898 name: autosomal dominant polycystic kidney disease def: "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion." [url:https\://en.wikipedia.org/wiki/Ciliopathy#cite_note-davenport2008-4, url:https\://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease, url:https\://www.genome.gov/Genetic-Disorders/Autosomal-Polycystic-Kidney-Disease] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].\nUpdating outdated UMLS CUI.\nRemoving Caroli disease as a synonym as this is a distinct disease. subset: DO_rare_slim subset: NCIthesaurus synonym: "ADPKD" EXACT OMO:0003012 [] synonym: "Congenital biliary ectasias" EXACT [] synonym: "POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1" EXACT [] xref: GARD:10413 xref: ICD10CM:Q61.3 xref: ICD9CM:753.12 xref: MESH:D007690 xref: NCI:C75464 xref: ORDO:730 xref: SNOMEDCT_US_2023_03_01:204955006 xref: UMLS_CUI:C0022680 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080322 ! polycystic kidney disease [Term] id: DOID:8980 name: obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving spleen synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance involving spleen" RELATED [] synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance of spleen (disorder)" EXACT [] synonym: "Hodgkin's, lymphocytic-histiocytic predominance of spleen (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8986 name: narcolepsy alt_id: DOID:8985 def: "A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work." [url:http\://en.wikipedia.org/wiki/Narcolepsy] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "Narcolepsy, without cataplexy" EXACT [] synonym: "paroxysmal sleep" EXACT [] xref: GARD:7162 xref: ICD10CM:G47.41 xref: ICD9CM:347.0 xref: MESH:D009290 xref: MIM:161400 xref: MIM:605841 xref: MIM:609039 xref: MIM:612417 xref: MIM:612851 xref: MIM:614223 xref: MIM:614250 xref: NCI:C84489 xref: ORDO:2073 xref: SNOMEDCT_US_2023_03_01:155059003 xref: UMLS_CUI:C0027404 is_a: DOID:535 ! sleep disorder [Term] id: DOID:899 name: choledochal cyst def: "A bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts." [url:https\://pubmed.ncbi.nlm.nih.gov/35212316/, url:https\://www.ncbi.nlm.nih.gov/books/NBK557762/] subset: DO_rare_slim subset: NCIthesaurus synonym: "bile duct cyst" EXACT [] synonym: "biliary cyst" EXACT [] synonym: "Congenital choledochal cyst" EXACT [] xref: GARD:9229 xref: ICD10CM:Q44.4 xref: MESH:D015529 xref: MIM:603003 xref: NCI:C2943 xref: ORDO:480501 xref: SNOMEDCT_US_2023_03_01:30533003 xref: UMLS_CUI:C0008340 is_a: DOID:4138 ! bile duct disease [Term] id: DOID:8990 name: obsolete Hodgkin's granuloma involving lymph nodes of multiple sites synonym: "Hodgkin's granuloma of lymph nodes of multiple sites (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8991 name: cervix uteri carcinoma in situ def: "An uterus carcinoma in situ that is located_in the uterine cervix." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1503328/] synonym: "carcinoma in situ of cervix" EXACT [] synonym: "carcinoma in situ of uterine cervix" EXACT [] synonym: "carcinoma of cervix stage 0" EXACT [] synonym: "cervical intraepithelial neoplasia grade III with severe dysplasia" EXACT [] synonym: "Cervix Ca in situ" EXACT [] synonym: "CIN III" EXACT OMO:0003012 [] synonym: "CIN III - carcinoma in situ of cervix" EXACT [] synonym: "CIN III - severe dyskaryosis" EXACT [] synonym: "Severe dysplasia of cervix" EXACT [] synonym: "Severe Dysplasia of the Cervix Uteri" EXACT [] synonym: "squamous intraepithelial neoplasia, grade III" EXACT [] xref: ICD10CM:D06 xref: ICD9CM:233.1 xref: MESH:D002578 xref: SNOMEDCT_US_2023_03_01:92564006 xref: UMLS_CUI:C0851140 is_a: DOID:2253 ! cervix disease is_a: DOID:9108 ! uterus carcinoma in situ [Term] id: DOID:8992 name: obsolete Hodgkin's granuloma involving lymph nodes of inguinal region and lower limb synonym: "Hodgkin's granuloma of lymph nodes of inguinal region and lower limb (disorder)" EXACT [] synonym: "Hodgkin's granuloma of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8994 name: obsolete Hodgkin's sarcoma involving lymph nodes of head, face, and neck synonym: "Hodgkin's sarcoma involving lymph nodes of head, face and neck" EXACT [] synonym: "Hodgkin's sarcoma of lymph nodes of head, face and neck (disorder)" EXACT [] synonym: "Hodgkin's sarcoma of lymph nodes of head, face and/or neck (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:8995 name: obsolete malignant histiocytosis involving intra-abdominal lymph nodes is_obsolete: true [Term] id: DOID:8997 name: polycythemia vera alt_id: DOID:11868 def: "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly." [url:https\://en.wikipedia.org/wiki/Polycythemia_vera, url:https\://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera, url:https\://www.mayoclinic.org/diseases-conditions/polycythemia-vera/symptoms-causes/syc-20355850] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "chronic erythremia" EXACT [] synonym: "Osler-Vaquez syndrome" EXACT [] synonym: "Polycythaemia rubra vera" EXACT [] synonym: "Proliferative polycythaemia" EXACT [] xref: GARD:7422 xref: ICD10CM:D45 xref: ICD9CM:207.1 xref: ICD9CM:238.4 xref: ICDO:9950/3 xref: MESH:D011087 xref: MIM:263300 xref: NCI:C3336 xref: SNOMEDCT_US_2023_03_01:154644004 xref: SNOMEDCT_US_2023_03_01:188753004 xref: UMLS_CUI:C0032463 xref: UMLS_CUI:C0152272 is_a: DOID:2226 ! myeloproliferative neoplasm [Term] id: DOID:90 name: degenerative disc disease alt_id: DOID:7943 def: "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc." [url:http\://en.wikipedia.org/wiki/Degenerative_disc_disease, url:http\://www.cedars-sinai.edu/Patients/Health-Conditions/Degenerative-Disc-Disease.aspx] subset: NCIthesaurus synonym: "cervical disc degenerative disease" EXACT [] synonym: "intervertebral disc degeneration" EXACT [] synonym: "lumbar disc degeneration" EXACT [] synonym: "vertebral disc disease" EXACT [] xref: EFO:0004994 xref: NCI:C27156 xref: SNOMEDCT_US_2023_03_01:156633005 xref: UMLS_CUI:C0410606 is_a: DOID:0080007 ! bone deterioration disease [Term] id: DOID:900 name: hepatopulmonary syndrome xref: ICD10CM:K76.81 xref: ICD9CM:573.5 xref: MESH:D020065 xref: SNOMEDCT_US_2023_03_01:371067004 xref: UMLS_CUI:C0600452 is_a: DOID:409 ! liver disease [Term] id: DOID:9001 name: obsolete Hodgkin's lymphoma, nodular sclerosis, involving spleen synonym: "Hodgkin's disease, nodular sclerosis of spleen" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis of spleen (disorder)" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis, involving spleen" RELATED [] is_obsolete: true [Term] id: DOID:9007 name: sudden infant death syndrome def: "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation." [url:http\://en.wikipedia.org/wiki/Sudden_infant_death_syndrome, url:http\://omim.org/entry/272120, url:http\://www.nlm.nih.gov/medlineplus/suddeninfantdeathsyndrome.html] subset: DO_rare_slim subset: NCIthesaurus synonym: "Cot death" EXACT [] synonym: "Crib death" EXACT [] synonym: "SIDS" EXACT OMO:0003012 [] synonym: "Sudden death of nonspecific cause in infancy" EXACT [] xref: GARD:7711 xref: ICD9CM:798.0 xref: MESH:D013398 xref: MIM:272120 xref: NCI:C85173 xref: SNOMEDCT_US_2023_03_01:51178009 xref: UMLS_CUI:C0038644 is_a: DOID:225 ! syndrome [Term] id: DOID:9008 name: psoriatic arthritis def: "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis." [url:http\://en.wikipedia.org/wiki/Psoriatic_arthropathy, url:http\://www.mayoclinic.com/health/psoriatic-arthritis/DS00476, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000413.htm, url:https\://ghr.nlm.nih.gov/condition/psoriatic-arthritis] subset: NCIthesaurus synonym: "arthritis psoriatica" EXACT [] synonym: "arthropathic psoriasis" EXACT [] synonym: "psoriatic arthropathy" RELATED [] xref: EFO:0003778 xref: ICD10CM:L40.5 xref: ICD9CM:696.0 xref: MESH:D015535 xref: NCI:C61277 xref: SNOMEDCT_US_2023_03_01:33339001 xref: UMLS_CUI:C0003872 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:848 ! arthritis [Term] id: DOID:901 name: liver lymphoma subset: NCIthesaurus synonym: "Lymphoma of Liver" EXACT [] xref: NCI:C4949 xref: UMLS_CUI:C1112746 is_a: DOID:0060058 ! lymphoma is_a: DOID:3571 ! liver cancer [Term] id: DOID:9010 name: obsolete Burkitt's tumor or lymphoma involving lymph nodes of multiple sites synonym: "Burkitt's lymphoma of lymph nodes of multiple sites (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9011 name: larynx carcinoma in situ def: "An in situ carcinoma that is located_in the larynx." [url:https\://pubmed.ncbi.nlm.nih.gov/1934549/] synonym: "carcinoma in situ of larynx" EXACT [] synonym: "stage 0 carcinoma of the Larynx" EXACT [] xref: ICD10CM:D02.0 xref: ICD9CM:231.0 xref: SNOMEDCT_US_2023_03_01:92634009 xref: UMLS_CUI:C0154069 is_a: DOID:786 ! laryngeal disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:9017 name: obsolete Sezary's disease involving lymph nodes of axilla and upper limb synonym: "Sezary's disease of lymph nodes of axilla and upper limb (disorder)" EXACT [] synonym: "Szary's disease of lymph nodes of axilla and/or upper limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9019 name: obsolete Mycosis fungoides involving spleen synonym: "Mycosis fungoides of spleen" EXACT [] synonym: "Mycosis fungoides of spleen (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:902 name: obsolete malignant non-epithelial hepatic and intrahepatic bile duct neoplasm is_obsolete: true [Term] id: DOID:9020 name: obsolete reticulosarcoma involving spleen synonym: "Reticulosarcoma Involving Spleen" EXACT [] synonym: "Reticulosarcoma of spleen" EXACT [] synonym: "Reticulosarcoma of spleen (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9021 name: esophageal leukoplakia subset: NCIthesaurus synonym: "Leukoplakia of esophagus" EXACT [] xref: ICD9CM:530.83 xref: NCI:C3953 xref: SNOMEDCT_US_2023_03_01:89057003 xref: UMLS_CUI:C0267095 is_a: DOID:6050 ! esophageal disease [Term] id: DOID:9024 name: intestine carcinoma in situ def: "An in situ carcinoma that is located_in the intestine." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/carcinoma-in-situ] xref: ICD10CM:D01.4 xref: ICD9CM:230.7 xref: SNOMEDCT_US_2023_03_01:190172008 xref: UMLS_CUI:C0154065 is_a: DOID:5295 ! intestinal disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:9025 name: obsolete Hodgkin's lymphoma, nodular sclerosis, involving intra-abdominal lymph nodes synonym: "Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes (disorder)" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis, involving intra-abdominal lymph nodes" RELATED [] is_obsolete: true [Term] id: DOID:903 name: gastrointestinal lymphoma subset: NCIthesaurus xref: NCI:C38162 xref: SNOMEDCT_US_2023_03_01:449072004 xref: UMLS_CUI:C0740372 is_a: DOID:0060058 ! lymphoma is_a: DOID:3119 ! gastrointestinal system cancer [Term] id: DOID:9033 name: obsolete Hodgkin's sarcoma involving lymph nodes of axilla and upper limb synonym: "Hodgkin's sarcoma of lymph nodes of axilla and upper limb (disorder)" EXACT [] synonym: "Hodgkin's sarcoma of lymph nodes of axilla and/or upper limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9036 name: parotid gland cancer def: "A salivary gland cancer that is located_in the parotid gland." [url:http\://en.wikipedia.org/wiki/Parotid_gland] subset: NCIthesaurus synonym: "cancer of parotid gland" EXACT [] synonym: "malignant neoplasm of the Parotid" EXACT [] synonym: "malignant tumor of parotid gland" EXACT [] synonym: "parotid cancer" EXACT [] xref: ICD10CM:C07 xref: ICD9CM:142.0 xref: MESH:D010307 xref: NCI:C3525 xref: SNOMEDCT_US_2023_03_01:93949007 xref: UMLS_CUI:C0747273 is_a: DOID:10302 ! parotid disease is_a: DOID:8850 ! salivary gland cancer [Term] id: DOID:9037 name: obsolete Burkitt's tumor or lymphoma involving lymph nodes of inguinal region and lower limb synonym: "Burkitt's lymphoma of lymph nodes of inguinal region and lower limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9039 name: obsolete Hodgkin's paragranuloma involving lymph nodes of head, face, and neck synonym: "Hodgkin's paragranuloma involving lymph nodes of head, face and neck" EXACT [] synonym: "Hodgkin's paragranuloma of lymph nodes of head, face and/or neck (disorder)" EXACT [] synonym: "Hodgkin's paragranuloma of lymph nodes of head, face, and neck (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9040 name: obsolete reticulosarcoma involving lymph nodes of head, face, and neck synonym: "Reticulosarcoma involving lymph nodes of head, face and neck" EXACT [] synonym: "Reticulosarcoma of lymph nodes of head, face and neck (disorder)" EXACT [] synonym: "Reticulosarcoma of lymph nodes of head, face, and neck (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9041 name: obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of axilla and upper limb synonym: "Hodgkin's disease, mixed cellularity of lymph nodes of axilla and upper limb (disorder)" EXACT [] synonym: "Hodgkin's disease, mixed cellularity of lymph nodes of axilla and/or upper limb (disorder)" EXACT [] synonym: "Hodgkin's disease, mixed cellularity, involving lymph nodes of axilla and upper limb" RELATED [] is_obsolete: true [Term] id: DOID:9042 name: polyp of corpus uteri subset: NCIthesaurus synonym: "endometrial/uterine polyp" EXACT [] synonym: "polyp of Endometrium" EXACT [] synonym: "polyp of the Uterus" EXACT [] synonym: "polyp, uterus" EXACT [] xref: ICD10CM:N84.0 xref: ICD9CM:621.0 xref: NCI:C3662 xref: SNOMEDCT_US_2023_03_01:266659005 xref: UMLS_CUI:C0156369 is_a: DOID:345 ! uterine disease [Term] id: DOID:9043 name: uterine cervix leukoplakia def: "A cervix disease that is characterized by the presence of a hyperkeratotic lesion." [url:https\://www.ajog.org/article/0002-9378(73)91053-3/abstract?code=ymob-site] subset: NCIthesaurus synonym: "Leukoplakia of cervix" EXACT [] synonym: "Leukoplakia of cervix uteri" EXACT [] synonym: "Leukoplakia of the uterine Cervix" EXACT [] xref: ICD10CM:N88.0 xref: ICD9CM:622.2 xref: NCI:C3976 xref: SNOMEDCT_US_2023_03_01:50923006 xref: UMLS_CUI:C0269194 is_a: DOID:2253 ! cervix disease [Term] id: DOID:9046 name: obsolete nodular lymphoma involving lymph nodes of multiple sites synonym: "nodular lymphoma of lymph nodes of multiple sites" EXACT [] synonym: "nodular lymphoma of lymph nodes of multiple sites (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:905 name: Zellweger syndrome def: "A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes." [url:http\://en.wikipedia.org/wiki/Zellweger_Syndrome, url:http\://www.ninds.nih.gov/disorders/zellweger/zellweger.htm, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912] comment: OMIM mapping confirmed by DO. [LS].\nOMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "cerebrohepatorenal syndrome" EXACT [] synonym: "congenital iron overload" EXACT [] xref: GARD:7917 xref: ICD10CM:E71.510 xref: MESH:D015211 xref: NCI:C85239 xref: ORDO:912 xref: SNOMEDCT_US_2023_03_01:88469006 xref: UMLS_CUI:C0043459 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:9051 name: obsolete Herpes simplex virus meningitis def: "A Simplexvirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom fever, and has_symptom meningism." [url:http\://en.wikipedia.org/wiki/Herpes_simplex, url:http\://en.wikipedia.org/wiki/Mollaret%27s_meningitis, url:http\://www.springerlink.com/content/u62658410432568k/fulltext.pdf] synonym: "Herpes simplex meningitis (disorder)" EXACT [] synonym: "Mollaret's meningitis" EXACT [] is_obsolete: true [Term] id: DOID:9052 name: obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of axilla and upper limb synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and upper limb (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and/or upper limb (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion, involving lymph nodes of axilla and upper limb" RELATED [] is_obsolete: true [Term] id: DOID:9053 name: bladder carcinoma in situ def: "An in situ carcinoma that is located_in the bladder." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4647140/] synonym: "bladder Ca in situ" EXACT [] synonym: "carcinoma in situ of bladder" EXACT [] synonym: "Flat CIS of the urinary bladder" EXACT [] xref: ICD10CM:D09.0 xref: ICD9CM:233.7 xref: SNOMEDCT_US_2023_03_01:92546004 xref: UMLS_CUI:C0154091 is_a: DOID:365 ! bladder disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:9054 name: obsolete lymphosarcoma involving intrathoracic lymph nodes is_obsolete: true [Term] id: DOID:9059 name: obsolete Herpes simplex virus gingivostomatitis def: "A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001052.htm] synonym: "herpetic gingivostomatitis" EXACT [] synonym: "primary herpetic gingivostomatitis" EXACT [] is_obsolete: true [Term] id: DOID:906 name: peroxisomal disease def: "An inherited metabolic disorder that involves peroxisome malfunction." [url:http\://en.wikipedia.org/wiki/Peroxisomal_disorder] subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "peroxisomal disorder" EXACT [] xref: ICD10CM:E71.5 xref: ICD9CM:277.86 xref: MESH:D018901 xref: NCI:C85005 xref: SNOMEDCT_US_2023_03_01:238059005 xref: UMLS_CUI:C0282528 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9060 name: pityriasis versicolor def: "A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales." [url:http\://mycology.adelaide.edu.au/Mycoses/Superficial/Malassezia_infections/] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Infection by Pityrosporum furfur" EXACT [] xref: ICD10CM:B36.0 xref: ICD9CM:111.0 xref: MESH:D014010 xref: NCI:C112833 xref: SNOMEDCT_US_2023_03_01:56454009 xref: UMLS_CUI:C0040262 is_a: DOID:0050133 ! superficial mycosis [Term] id: DOID:9061 name: obsolete alcohol induced sleep disorder is_obsolete: true [Term] id: DOID:9063 name: Ritter's disease def: "A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptom redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability." [url:http\://en.wikipedia.org/wiki/Ritter%27s_disease, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=staphylococcal+scalded+skin] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "Dermatitis exfoliativa neonatorum" EXACT [] synonym: "Pemphigus neonatorum" EXACT [] synonym: "Ritter disease" EXACT [] synonym: "Scalded skin syndrome" EXACT [] synonym: "Staphylococcal scalded skin syndrome" EXACT [] synonym: "Toxic epidermal necrolysis, subcorneal type" EXACT [] xref: ICD10CM:L00 xref: ICD9CM:695.81 xref: MESH:D013206 xref: NCI:C85077 xref: SNOMEDCT_US_2023_03_01:87758007 xref: UMLS_CUI:C0038165 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:37 ! skin disease [Term] id: DOID:9064 name: obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance, extranodal and solid organ sites synonym: "Hodgkin's disease, lymphocytic-histiocytic predominance, extranodal and solid organ sites" RELATED [] is_obsolete: true [Term] id: DOID:9065 name: leishmaniasis alt_id: DOID:9136 def: "A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae)." [url:http\://www.cdc.gov/ncidod/dpd/parasites/leishmania/factsht_leishmania.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Post Kala-Azar Dermal Leishmaniasis" RELATED [] synonym: "post-kala-azar dermal infectious disease by leishmaniasis" RELATED [] synonym: "Post-kala-azar dermal leishmaniasis" RELATED [] xref: GARD:6881 xref: ICD10CM:B55 xref: ICD9CM:085 xref: MESH:D007896 xref: NCI:C34767 xref: ORDO:507 xref: SNOMEDCT_US_2023_03_01:266206004 xref: UMLS_CUI:C0023281 is_a: DOID:2789 ! parasitic protozoa infectious disease [Term] id: DOID:9067 name: obsolete Hodgkin's paragranuloma involving intrathoracic lymph nodes synonym: "Hodgkin's paragranuloma of intrathoracic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:907 name: liver fibroma subset: NCIthesaurus synonym: "Fibroma of the Liver" EXACT [] xref: NCI:C5752 xref: UMLS_CUI:C1333965 is_a: DOID:916 ! liver benign neoplasm [Term] id: DOID:9070 name: obsolete pseudopolyposis of colon synonym: "Colonic Inflammatory polyp" EXACT [] synonym: "Pseudopolyposis of colon (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9071 name: obsolete malignant histiocytosis involving spleen synonym: "malignant histiocytosis of spleen (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9072 name: lethal midline granuloma subset: DO_rare_slim subset: NCIthesaurus synonym: "malignant granuloma of face" EXACT [] synonym: "Midfacial Necrotising Lesion" EXACT [] xref: GARD:9622 xref: ICD10CM:M31.2 xref: ICD9CM:446.3 xref: MESH:D006103 xref: NCI:C8196 xref: SNOMEDCT_US_2023_03_01:58961005 xref: UMLS_CUI:C0018197 is_a: DOID:2825 ! nose disease [Term] id: DOID:9074 name: systemic lupus erythematosus def: "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart." [url:http\://en.wikipedia.org/wiki/Systemic_lupus_erythematosus] {comment="ls:IEDB"} comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "disseminated lupus erythematosus" EXACT [] synonym: "Lupus Erythematosus, systemic" EXACT [] synonym: "SLE - Lupus Erythematosus, systemic" EXACT [] xref: GARD:10253 xref: ICD10CM:M32.9 xref: ICD9CM:710.0 xref: KEGG:05322 xref: MESH:D008180 xref: MIM:152700 xref: MIM:300809 xref: MIM:605480 xref: MIM:608437 xref: MIM:609903 xref: MIM:609939 xref: MIM:610065 xref: MIM:610066 xref: MIM:612254 xref: MIM:612378 xref: MIM:613145 xref: MIM:614420 xref: NCI:C3201 xref: ORDO:536 xref: SNOMEDCT_US_2023_03_01:156450004 xref: UMLS_CUI:C0024141 is_a: DOID:65 ! connective tissue disease is_a: DOID:8857 ! lupus erythematosus [Term] id: DOID:9076 name: discoid lupus erythematosus of eyelid xref: ICD10CM:H01.12 xref: ICD9CM:373.34 xref: SNOMEDCT_US_2023_03_01:79291003 xref: UMLS_CUI:C0155180 is_a: DOID:1894 ! noninfectious dermatoses of eyelid [Term] id: DOID:9078 name: obsolete Hodgkin's paragranuloma involving intrapelvic lymph nodes synonym: "Hodgkin's paragranuloma of intrapelvic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9079 name: obsolete Hodgkin's paragranuloma involving lymph nodes of multiple sites synonym: "Hodgkin's paragranuloma of lymph nodes of multiple sites (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9080 name: macroglobulinemia synonym: "primary macroglobulinemia" EXACT [] is_a: DOID:2345 ! plasma protein metabolism disease [Term] id: DOID:9082 name: obsolete mycosis fungoides involving intrathoracic lymph nodes synonym: "Mycosis fungoides of intrathoracic lymph nodes" EXACT [] synonym: "Mycosis fungoides of intrathoracic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9084 name: obsolete Hodgkin's lymphoma, mixed cellularity, involving intra-abdominal lymph nodes synonym: "Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes" EXACT [] synonym: "Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes (disorder)" EXACT [] synonym: "Hodgkin's disease, mixed cellularity, involving intra-abdominal lymph nodes" RELATED [] is_obsolete: true [Term] id: DOID:9087 name: anal carcinoma in situ def: "An in situ carcinoma that is located_in the anus." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2780101/] subset: NCIthesaurus synonym: "anal carcinoma stage 0" EXACT [] synonym: "anal intraepithelial neoplasia grade III" EXACT [] synonym: "carcinoma in situ of anal canal" EXACT [] synonym: "carcinoma in situ of anus" EXACT [] xref: ICD9CM:230.6 xref: NCI:C157575 xref: SNOMEDCT_US_2023_03_01:92537005 xref: UMLS_CUI:C0154064 is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:9088 name: parapsoriasis subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7328 xref: ICD10CM:L41 xref: ICD9CM:696.2 xref: MESH:D010267 xref: NCI:C3312 xref: SNOMEDCT_US_2023_03_01:267851002 xref: UMLS_CUI:C0030491 is_a: DOID:8893 ! psoriasis [Term] id: DOID:9091 name: REM sleep behavior disorder def: "A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement." [url:http\://en.wikipedia.org/wiki/Rapid_eye_movement_behavior_disorder] synonym: "Rapid eye movement sleep behavior disorder" EXACT [] synonym: "Rapid eye movement sleep behaviour disorder" EXACT [] synonym: "REM sleep behaviour disorder" EXACT [] xref: ICD10CM:G47.52 xref: ICD9CM:327.42 xref: MESH:D020187 xref: SNOMEDCT_US_2023_03_01:415238003 xref: UMLS_CUI:C0751772 is_a: DOID:535 ! sleep disorder [Term] id: DOID:9092 name: obsolete Hodgkin's sarcoma involving intrathoracic lymph nodes synonym: "Hodgkin's sarcoma of intrathoracic lymph nodes" EXACT [] synonym: "Hodgkin's sarcoma of intrathoracic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9093 name: obsolete Hodgkin's paragranuloma involving intra-abdominal lymph nodes synonym: "Hodgkin's paragranuloma of intra-abdominal lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9095 name: esophagus carcinoma in situ def: "An in situ carcinoma that is located_in the esophagus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6988210] synonym: "carcinoma in situ of esophagus" EXACT [] synonym: "carcinoma in situ of oesophagus" EXACT [] synonym: "oesophagus carcinoma in situ" EXACT [] synonym: "Severe esophageal dysplasia" EXACT [] synonym: "stage 0 carcinoma of the esophagus" EXACT [] synonym: "stage 0 carcinoma of the oesophagus" EXACT [] xref: ICD10CM:D00.1 xref: ICD9CM:230.1 xref: SNOMEDCT_US_2023_03_01:92585006 xref: UMLS_CUI:C0154059 is_a: DOID:6050 ! esophageal disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:9097 name: erythematosquamous dermatosis alt_id: DOID:9215 subset: NCIthesaurus synonym: "Other erythematosquamous dermatosis" EXACT [] xref: ICD9CM:690 xref: NCI:C34591 xref: SNOMEDCT_US_2023_03_01:200762004 xref: UMLS_CUI:C0014747 is_a: DOID:37 ! skin disease [Term] id: DOID:9098 name: sebaceous gland disease def: "A skin disease that is located_in the sebaceous gland." [url:http\://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance, url:https\://www.ncbi.nlm.nih.gov/pubmed/18837699] xref: ICD10CM:L70.8 xref: ICD9CM:706.1 xref: SNOMEDCT_US_2023_03_01:201213005 xref: UMLS_CUI:C0029485 is_a: DOID:37 ! skin disease [Term] id: DOID:910 name: occipital lobe neoplasm alt_id: DOID:909 subset: NCIthesaurus synonym: "malignant neoplasm of occipital lobe" EXACT [] synonym: "neoplasm of occipital lobe" EXACT [] synonym: "tumor of Occipital Lobe" EXACT [] xref: ICD10CM:C71.4 xref: ICD9CM:191.4 xref: NCI:C5574 xref: SNOMEDCT_US_2023_03_01:126957005 xref: SNOMEDCT_US_2023_03_01:93928006 xref: UMLS_CUI:C0153638 xref: UMLS_CUI:C1263889 is_a: DOID:368 ! cerebrum cancer [Term] id: DOID:9103 name: obsolete carcinoma in situ of male genital organs synonym: "carcinoma in situ of other and unspecified male genital organs (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9105 name: obsolete mycosis fungoides involving intrapelvic lymph nodes synonym: "Mycosis fungoides of intrapelvic lymph nodes" EXACT [] synonym: "Mycosis fungoides of intrapelvic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9108 name: uterus carcinoma in situ def: "An in situ carcinoma that is located_in the uterus." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25423715] xref: ICD9CM:233.2 xref: SNOMEDCT_US_2023_03_01:189342001 xref: UMLS_CUI:C0154086 is_a: DOID:345 ! uterine disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:9109 name: obsolete mycosis fungoides involving intra-abdominal lymph nodes synonym: "Mycosis fungoides of intra-abdominal lymph nodes" EXACT [] synonym: "Mycosis fungoides of intra-abdominal lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9111 name: cutaneous leishmaniasis alt_id: DOID:13553 alt_id: DOID:9110 alt_id: DOID:9122 alt_id: DOID:9167 def: "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Asian Desert Cutaneous Leishmaniasis" EXACT [] synonym: "diffuse cutaneous leishmaniasis" EXACT [] synonym: "Leproid leishmaniasis" EXACT [] xref: ICD10CM:B55.1 xref: MESH:D016773 xref: NCI:C34768 xref: SNOMEDCT_US_2023_03_01:240637006 xref: UMLS_CUI:C0023283 is_a: DOID:37 ! skin disease is_a: DOID:9065 ! leishmaniasis [Term] id: DOID:9113 name: granuloma inguinale def: "A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers." [url:http\://en.wikipedia.org/wiki/Granuloma_inguinale] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: sexually_transmitted_infectious_disease synonym: "donovanosis" EXACT [] synonym: "pudendal ulcer" EXACT [] xref: GARD:9532 xref: ICD10CM:A58 xref: ICD9CM:099.2 xref: MESH:D006100 xref: NCI:C3065 xref: SNOMEDCT_US_2023_03_01:186947000 xref: UMLS_CUI:C0018190 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:9114 name: obsolete Varicella-zoster virus pneumonia def: "A Varicellovirus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human herpesvirus 3, has_symptom rash, has_symptom tachypnea, has_symptom chest tightness, has_symptom cough, has_symptom dyspnea, has_symptom fever, has_symptom pleuretic chest pain, and has_symptom hemoptysis." [url:http\://erj.ersjournals.com/content/21/5/886.full] synonym: "Hemorrhagic varicella pneumonitis" EXACT [] synonym: "Varicella pneumonitis" EXACT [] is_obsolete: true [Term] id: DOID:9115 name: obsolete Rubella virus arthritis def: "A Rubella virus infectious disease that results_in infection located_in joint, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom joint pains." [url:http\://books.google.com/books?id=e2eMlwknpAIC&pg=PA338&lpg#v=onepage&q&f=false] synonym: "rubella arthritis" EXACT [] is_obsolete: true [Term] id: DOID:9117 name: obsolete Hodgkin's lymphoma, lymphocytic depletion, involving spleen synonym: "Hodgkin's disease, lymphocytic depletion of spleen" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion of spleen (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion, involving spleen" RELATED [] is_obsolete: true [Term] id: DOID:9119 name: acute myeloid leukemia alt_id: DOID:9118 alt_id: DOID:9171 def: "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells." [url:http\://cancergenome.nih.gov/cancersselected/acutemyeloidleukemia, url:http\://en.wikipedia.org/wiki/Acute_myeloid_leukemia, url:http\://www.cancer.gov/dictionary?cdrid=44363, url:https\://www.cancer.org/cancer/acute-myeloid-leukemia/detection-diagnosis-staging/how-classified.html] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_FlyBase_slim subset: DO_RAD_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "acute myeloblastic leukaemia" EXACT [] synonym: "acute myeloblastic leukemia" EXACT [] synonym: "acute myelogenous leukaemia" EXACT [] synonym: "acute myelogenous leukemia" EXACT [] synonym: "acute myeloid leukaemia" EXACT [] synonym: "AML - acute Myeloid Leukemia" EXACT [] synonym: "Leukemia, Myelocytic, acute" EXACT [] xref: GARD:12757 xref: ICD10CM:C92.0 xref: ICD9CM:205.0 xref: ICDO:9861/3 xref: KEGG:05221 xref: MESH:D015470 xref: MIM:601626 xref: NCI:C3171 xref: SNOMEDCT_US_2023_03_01:17788007 xref: UMLS_CUI:C0023467 is_a: DOID:8692 ! myeloid leukemia [Term] id: DOID:9120 name: amyloidosis def: "A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition." [url:https\://en.wikipedia.org/wiki/Amyloidosis, url:https\://pubmed.ncbi.nlm.nih.gov/33100054/, url:https\://pubmed.ncbi.nlm.nih.gov/33787033/, url:https\://www.tandfonline.com/doi/pdf/10.1080/13506129.2020.1835263?needAccess=true] comment: amyloidosis has both inherited and acquired subtypes [LS]. subset: DO_FlyBase_slim subset: DO_MGI_slim subset: NCIthesaurus synonym: "amyloid disease" EXACT [] xref: ICD10CM:E85 xref: ICD9CM:277.3 xref: MESH:D000686 xref: NCI:C2868 xref: SNOMEDCT_US_2023_03_01:154769007 xref: UMLS_CUI:C0002726 is_a: DOID:0014667 ! disease of metabolism property_value: exactMatch "MESH:D000686" xsd:string [Term] id: DOID:9121 name: obsolete Hodgkin's lymphoma, mixed cellularity, extranodal and solid organ sites synonym: "Hodgkin's disease, mixed cellularity, extranodal and solid organ sites" EXACT [] is_obsolete: true [Term] id: DOID:9123 name: eczema herpeticum alt_id: DOID:4408 alt_id: DOID:9081 def: "A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520662/] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "herpes simplex dermatitis" EXACT [] synonym: "Herpes simplex dermatitis of eyelid" EXACT [] synonym: "Herpes simplex eyelid dermatitis" EXACT [] synonym: "Herpes simplex virus dermatitis" EXACT [] synonym: "herpes simplex virus eyelid dermatitis" EXACT [] xref: ICD10CM:B00.0 xref: ICD9CM:054.0 xref: ICD9CM:054.41 xref: MESH:D007617 xref: NCI:C35620 xref: SNOMEDCT_US_2023_03_01:186544000 xref: SNOMEDCT_US_2023_03_01:52464003 xref: UMLS_CUI:C0153037 xref: UMLS_CUI:C0854331 xref: UMLS_CUI:C0936250 is_a: DOID:37 ! skin disease is_a: DOID:8566 ! herpes simplex [Term] id: DOID:9124 name: obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intra-abdominal lymph nodes synonym: "Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion, involving intra-abdominal lymph nodes" RELATED [] is_obsolete: true [Term] id: DOID:9125 name: lower gum cancer synonym: "malignant tumor of lower gingiva" EXACT [] synonym: "malignant tumour of lower gum" EXACT [] xref: ICD10CM:C03.1 xref: ICD9CM:143.1 xref: SNOMEDCT_US_2023_03_01:93873003 xref: UMLS_CUI:C0432581 is_a: DOID:8602 ! gum cancer [Term] id: DOID:913 name: atrophic muscular disease def: "A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C84574] subset: NCIthesaurus xref: MESH:D020966 xref: NCI:C84574 xref: UMLS_CUI:C0752352 is_a: DOID:0080000 ! muscular disease is_a: DOID:440 ! neuromuscular disease [Term] id: DOID:9130 name: obsolete Hodgkin's lymphoma, nodular sclerosis, involving intrapelvic lymph nodes synonym: "Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes (disorder)" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis, involving intrapelvic lymph nodes" RELATED [] is_obsolete: true [Term] id: DOID:9132 name: liver carcinoma in situ def: "An in situ carcinoma that is located_in the liver." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1657755] synonym: "carcinoma in situ of liver and biliary system" EXACT [] synonym: "carcinoma in situ of liver, gallbladder and bile ducts" EXACT [] xref: ICD10CM:D01.5 xref: ICD9CM:230.8 xref: SNOMEDCT_US_2023_03_01:271525004 xref: UMLS_CUI:C0496854 is_a: DOID:409 ! liver disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:9138 name: stomach carcinoma in situ def: "An in situ carcinoma that is located_in the stomach." [url:https\://www.cancer.gov/types/stomach/patient/stomach-treatment-pdq] synonym: "carcinoma in situ of stomach" EXACT [] synonym: "gastric carcinoma in situ" EXACT [] xref: ICD10CM:D00.2 xref: ICD9CM:230.2 xref: SNOMEDCT_US_2023_03_01:92756002 xref: UMLS_CUI:C0154060 is_a: DOID:76 ! stomach disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:914 name: peliosis hepatis synonym: "hepatic peliosis" EXACT [] xref: ICD10CM:K76.4 xref: MESH:D010382 xref: SNOMEDCT_US_2023_03_01:197366003 xref: UMLS_CUI:C0030781 is_a: DOID:272 ! hepatic vascular disease [Term] id: DOID:9140 name: xeroderma of eyelid xref: ICD10CM:H01.14 xref: ICD9CM:373.33 xref: SNOMEDCT_US_2023_03_01:55846006 xref: UMLS_CUI:C0155179 is_a: DOID:1894 ! noninfectious dermatoses of eyelid [Term] id: DOID:9141 name: obsolete Herpes simplex virus meningoencephalitis def: "A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1502977/pdf/califmed00041-0064.pdf] synonym: "Herpetic meningoencephalitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9142 name: obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of multiple sites synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion, involving lymph nodes of multiple sites" RELATED [] synonym: "stage III Hodgkin's Lymphoma Lymphocyte Depletion type" EXACT [] is_obsolete: true [Term] id: DOID:9143 name: obsolete Burkitt's tumor or lymphoma involving spleen synonym: "Burkitt's lymphoma of spleen (disorder)" EXACT [] synonym: "Burkitt's tumor of spleen (disorder)" EXACT [] synonym: "Splenic Burkitt's Lymphoma" EXACT [] is_obsolete: true [Term] id: DOID:9146 name: visceral leishmaniasis def: "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver." [url:http\://en.wikipedia.org/wiki/Visceral_leishmaniasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm] comment: Xref MGI. subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Infection by visceral leishmaniasis" EXACT [] synonym: "Kala-Azar" EXACT [] xref: ICD10CM:B55.0 xref: ICD9CM:085.0 xref: MESH:D007898 xref: MIM:608207 xref: MIM:611381 xref: MIM:611382 xref: NCI:C34771 xref: SNOMEDCT_US_2023_03_01:48115004 xref: UMLS_CUI:C0023290 is_a: DOID:0080001 ! bone disease is_a: DOID:2529 ! splenic disease is_a: DOID:409 ! liver disease is_a: DOID:9065 ! leishmaniasis [Term] id: DOID:9149 name: hard palate cancer subset: NCIthesaurus synonym: "malignant neoplasm of hard palate" EXACT [] synonym: "malignant tumor of hard palate" EXACT [] synonym: "malignant tumour of hard palate" EXACT [] xref: ICD10CM:C05.0 xref: ICD9CM:145.2 xref: NCI:C3528 xref: SNOMEDCT_US_2023_03_01:93822006 xref: UMLS_CUI:C0153375 is_a: DOID:8618 ! oral cavity cancer [Term] id: DOID:9150 name: obsolete Hodgkin's lymphoma, mixed cellularity, involving intrapelvic lymph nodes synonym: "Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes" EXACT [] synonym: "Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes (disorder)" EXACT [] synonym: "Hodgkin's disease, mixed cellularity, involving intrapelvic lymph nodes" RELATED [] is_obsolete: true [Term] id: DOID:9153 name: variola minor def: "A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions." [url:https\://www.fda.gov/vaccines-blood-biologics/vaccines/smallpox] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Alastrim" EXACT [] synonym: "cottonpox" EXACT [] synonym: "milkpox" EXACT [] synonym: "whitepox" EXACT [] xref: ICD9CM:050.1 xref: MESH:D012899 xref: NCI:C34365 xref: SNOMEDCT_US_2023_03_01:72294005 xref: UMLS_CUI:C0001906 is_a: DOID:8736 ! smallpox [Term] id: DOID:9155 name: mucocutaneous leishmaniasis def: "A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa." [url:http\://www.bmj.com/cgi/content/full/329/7470/842] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease synonym: "American cutaneous leishmaniasis" EXACT [] synonym: "American mucocutaneous leishmaniasis" EXACT [] synonym: "Cutaneous leishmaniasis, American" EXACT [] synonym: "Mucocutaneous leishmaniasis, American" EXACT [] synonym: "New World cutaneous leishmaniasis" EXACT [] xref: ICD10CM:B55.2 xref: ICD9CM:085.5 xref: MESH:D007897 xref: SNOMEDCT_US_2023_03_01:721813000 xref: UMLS_CUI:C1328252 is_a: DOID:9065 ! leishmaniasis is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:9157 name: obsolete Hodgkin's lymphoma, nodular sclerosis, involving intrathoracic lymph nodes synonym: "Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes (disorder)" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis, involving intrathoracic lymph nodes" RELATED [] is_obsolete: true [Term] id: DOID:9158 name: obsolete Sezary's disease involving intra-abdominal lymph nodes synonym: "Sezary's disease of intra-abdominal lymph nodes (disorder)" EXACT [] synonym: "Szary's disease of intra-abdominal lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9159 name: gas gangrene def: "A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis." [url:http\://en.wikipedia.org/wiki/Gas_gangrene, url:http\://www.merckmanuals.com/home/sec17/ch190/ch190g.html#sec17-ch190-ch190g-157] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease synonym: "Gas bacillus infection" EXACT [] xref: ICD10CM:A48.0 xref: ICD9CM:040.0 xref: MESH:D005738 xref: SNOMEDCT_US_2023_03_01:186413007 xref: UMLS_CUI:C0017105 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:0080000 ! muscular disease [Term] id: DOID:916 name: liver benign neoplasm alt_id: DOID:692 subset: NCIthesaurus synonym: "epithelial hepatic and intrahepatic bile duct neoplasm" EXACT [] xref: NCI:C7103 xref: NCI:C7106 xref: UMLS_CUI:C1333419 xref: UMLS_CUI:C1333976 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:3117 ! hepatobiliary benign neoplasm is_a: DOID:409 ! liver disease [Term] id: DOID:9161 name: obsolete Sezary's disease involving intrapelvic lymph nodes synonym: "Sezary's disease of intrapelvic lymph nodes (disorder)" EXACT [] synonym: "Szary's disease of intrapelvic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9164 name: achalasia def: "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000267.htm] subset: NCIthesaurus synonym: "achalasia of cardia" EXACT [] synonym: "achalasia of esophagus" EXACT [] synonym: "cardiospasm" EXACT [] synonym: "esophageal achalasia" EXACT [] synonym: "hypertensive lower esophageal sphincter" EXACT [] synonym: "Lack of reflex relaxation of lower oesophageal sphincter" EXACT [] xref: ICD10CM:K22.0 xref: ICD9CM:530.0 xref: MESH:D004931 xref: MIM:200400 xref: NCI:C84699 xref: SNOMEDCT_US_2023_03_01:17460002 xref: UMLS_CUI:C0014848 is_a: DOID:6050 ! esophageal disease [Term] id: DOID:9165 name: neurotic excoriation synonym: "Dermatitis artefacta" EXACT [] synonym: "Dermatitis factitia" EXACT [] synonym: "Dermatitis ficta" EXACT [] synonym: "Factitious skin disease" EXACT [] xref: ICD10CM:L98.1 xref: ICD9CM:698.4 xref: SNOMEDCT_US_2023_03_01:402736003 xref: UMLS_CUI:C1274184 is_a: DOID:2723 ! dermatitis [Term] id: DOID:9169 name: Wiskott-Aldrich syndrome def: "A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia)." [url:https\://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Wiskott syndrome" EXACT [] xref: ICD10CM:D82.0 xref: ICD9CM:279.12 xref: MESH:D014923 xref: MIM:301000 xref: NCI:C3448 xref: SNOMEDCT_US_2023_03_01:36070007 xref: UMLS_CUI:C0043194 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:917 name: liver leiomyoma subset: NCIthesaurus synonym: "leiomyoma of the Liver" EXACT [] xref: NCI:C5753 xref: UMLS_CUI:C1333968 is_a: DOID:916 ! liver benign neoplasm [Term] id: DOID:9173 name: submandibular gland cancer subset: NCIthesaurus synonym: "malignant neoplasm of submaxillary gland" EXACT [] synonym: "malignant tumor of submandibular gland" EXACT [] synonym: "malignant tumor of the Submandibular gland" EXACT [] xref: ICD10CM:C08.0 xref: ICD9CM:142.1 xref: NCI:C3526 xref: SNOMEDCT_US_2023_03_01:363380002 xref: UMLS_CUI:C0153360 is_a: DOID:12897 ! submandibular gland disease is_a: DOID:8850 ! salivary gland cancer [Term] id: DOID:9174 name: rectum carcinoma in situ def: "An in situ carcinoma that is located_in the rectum." [url:https\://www.ncbi.nlm.nih.gov/pubmed/622667] synonym: "carcinoma in situ of rectum" EXACT [] synonym: "Severe dysplasia of rectum" EXACT [] synonym: "Severe Rectal Dysplasia" EXACT [] xref: ICD10CM:D01.2 xref: ICD9CM:230.4 xref: SNOMEDCT_US_2023_03_01:92696009 xref: UMLS_CUI:C0154062 is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:918 name: liver inflammatory pseudotumor subset: NCIthesaurus synonym: "Inflammatory Pseudotumor of the Liver" EXACT [] xref: NCI:C5858 xref: SNOMEDCT_US_2023_03_01:717329009 xref: UMLS_CUI:C1333967 is_a: DOID:409 ! liver disease [Term] id: DOID:9180 name: obsolete amebic colitis def: "An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon." [url:http\://www.dpd.cdc.gov/DPDx/HTML/Amebiasis.htm, url:http\://www.merck.com/mmpe/sec14/ch185/ch185b.html?qt=amebic%20colitis&alt=sh] synonym: "Amebic nondysenteric colitis (disorder)" EXACT [] synonym: "amoebic colitis" EXACT [] is_obsolete: true [Term] id: DOID:9181 name: amebiasis alt_id: DOID:11901 alt_id: DOID:11904 def: "A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs." [url:http\://en.wikipedia.org/wiki/Amoebiasis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000298.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "amoebiasis" EXACT [] synonym: "chronic intestinal amebiasis" RELATED [] synonym: "entamoebiasis" EXACT [] xref: GARD:652 xref: ICD10CM:A06 xref: ICD9CM:006 xref: MESH:D000562 xref: NCI:C84551 xref: SNOMEDCT_US_2023_03_01:387754006 xref: UMLS_CUI:C0002438 is_a: DOID:2789 ! parasitic protozoa infectious disease property_value: exactMatch "MESH:D000562" xsd:string [Term] id: DOID:9182 name: pemphigus def: "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured." [url:https\://en.wikipedia.org/wiki/Pemphigus, url:https\://medlineplus.gov/pemphigus.html, url:https\://rarediseases.org/rare-diseases/pemphigus/] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7352 xref: ICD10CM:L10 xref: ICD9CM:694.4 xref: MESH:D010392 xref: NCI:C34909 xref: SNOMEDCT_US_2023_03_01:156355008 xref: UMLS_CUI:C0030807 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:8502 ! bullous skin disease [Term] id: DOID:9184 name: obsolete sleep arousal disorder is_obsolete: true [Term] id: DOID:9186 name: obsolete Hodgkin's paragranuloma involving lymph nodes of inguinal region and lower limb synonym: "Hodgkin's paragranuloma of lymph nodes of inguinal region and lower limb (disorder)" EXACT [] synonym: "Hodgkin's paragranuloma of lymph nodes of inguinal region and/or lower limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9188 name: vestibule of mouth cancer synonym: "malignant neoplasm of vestibule of mouth" EXACT [] synonym: "malignant tumor of vestibule of mouth" EXACT [] xref: ICD10CM:C06.1 xref: ICD9CM:145.1 xref: SNOMEDCT_US_2023_03_01:187658004 xref: UMLS_CUI:C0153374 is_a: DOID:8618 ! oral cavity cancer [Term] id: DOID:9189 name: obsolete generalized hyperhidrosis synonym: "Generalized hyperhidrosis (context-dependent category)" EXACT [] synonym: "Generalized hyperhidrosis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9191 name: diabetic macular edema xref: ICD9CM:362.07 xref: SNOMEDCT_US_2023_03_01:312912001 xref: UMLS_CUI:C0730285 is_a: DOID:8947 ! diabetic retinopathy [Term] id: DOID:9192 name: dyskinesia of esophagus synonym: "Dyskinesia of oesophagus" EXACT [] synonym: "esophageal dysmotility" EXACT [] synonym: "esophageal motility disorder" EXACT [] synonym: "Oesophageal dysmotility" EXACT [] synonym: "Oesophageal motor disorder" EXACT [] xref: ICD10CM:K22.4 xref: ICD9CM:530.5 xref: MESH:D015154 xref: SNOMEDCT_US_2023_03_01:40846004 xref: UMLS_CUI:C0014858 is_a: DOID:6050 ! esophageal disease [Term] id: DOID:9195 name: obsolete Herpes simplex virus keratitis alt_id: DOID:8565 alt_id: DOID:8624 alt_id: DOID:9023 def: "A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness." [url:http\://emedicine.medscape.com/article/1194268-overview] synonym: "Dendritic Keratitis" EXACT [] synonym: "herpes simplex disciform keratitis" EXACT [] synonym: "ocular herpes simplex" EXACT [] is_obsolete: true [Term] id: DOID:9198 name: obsolete Sezary's disease involving intrathoracic lymph nodes synonym: "Sezary's disease of intrathoracic lymph nodes (disorder)" EXACT [] synonym: "Szary's disease of intrathoracic lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9199 name: obsolete cataplexy and narcolepsy is_obsolete: true [Term] id: DOID:92 name: speech disorder def: "A communication disorder that involves difficulty with the act of speech production." [url:http\://en.wikipedia.org/wiki/Speech_disorders] subset: NCIthesaurus xref: MESH:D013064 xref: NCI:C5041 xref: UMLS_CUI:C0037822 is_a: DOID:2033 ! communication disorder [Term] id: DOID:920 name: obsolete childhood liver neoplasm is_obsolete: true [Term] id: DOID:9201 name: lichen planus def: "A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes." [url:http\://en.wikipedia.org/wiki/Lichen_planus] subset: DO_rare_slim subset: NCIthesaurus synonym: "lichen ruber planus" EXACT [] synonym: "Lichen, ruber planus" EXACT [] xref: GARD:12344 xref: ICD10CM:L43 xref: ICD9CM:697.0 xref: MESH:D008010 xref: NCI:C3189 xref: SNOMEDCT_US_2023_03_01:156377007 xref: UMLS_CUI:C0023646 is_a: DOID:8574 ! lichen disease property_value: exactMatch "MESH:D008010" xsd:string [Term] id: DOID:9202 name: obsolete disorder of optic chiasm associated with pituitary neoplasm and disorder is_obsolete: true [Term] id: DOID:9203 name: obsolete Burkitt's tumor or lymphoma involving intra-abdominal lymph nodes synonym: "Burkitt's lymphoma of intra-abdominal lymph nodes (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9206 name: Barrett's esophagus def: "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium." [url:https\://pubmed.ncbi.nlm.nih.gov/21461873/] subset: DO_rare_slim subset: NCIthesaurus synonym: "Barrett esophagus" EXACT [] synonym: "Barrett's esophagus with esophagitis" EXACT [] synonym: "Barrett's oesophagus" EXACT [] synonym: "Barrett's ulcer of esophagus" EXACT [] synonym: "Barretts syndrome" EXACT [] synonym: "ulcerative esophagitis" EXACT [] xref: EFO:0000280 xref: GARD:20 xref: ICD10CM:K22.7 xref: ICD9CM:530.85 xref: MESH:D001471 xref: MIM:614266 xref: NCI:C2891 xref: SNOMEDCT_US_2023_03_01:302914006 xref: UMLS_CUI:C0004763 is_a: DOID:6050 ! esophageal disease [Term] id: DOID:9207 name: periodic limb movement disorder def: "A sleep disorder that involves involuntary limb movement during sleep." [url:http\://en.wikipedia.org/wiki/Periodic_limb_movement_disorder] synonym: "nocturnal myoclonus" EXACT [] xref: ICD10CM:G47.61 xref: ICD9CM:327.51 xref: MESH:D020189 xref: SNOMEDCT_US_2023_03_01:418763003 xref: UMLS_CUI:C0751774 is_a: DOID:535 ! sleep disorder [Term] id: DOID:9210 name: herpes zoster oticus def: "A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache." [url:https\://rarediseases.info.nih.gov/diseases/7525/index] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Geniculate herpes zoster" EXACT [] synonym: "geniculate neuralgia" EXACT [] synonym: "Herpes zoster auricularis" EXACT [] synonym: "Herpetic geniculate ganglionitis" EXACT [] synonym: "nervus intermedius neuralgia" EXACT [] synonym: "Ramsay Hunt syndrome type 2" EXACT [] synonym: "Ramsay Hunt syndrome type II" EXACT [] synonym: "Ramsey Hunt syndrome" EXACT [] xref: GARD:7525 xref: ICD10CM:B02.21 xref: ICD9CM:053.11 xref: MESH:D016697 xref: NCI:C84763 xref: SNOMEDCT_US_2023_03_01:21954000 xref: UMLS_CUI:C0017409 is_a: DOID:1756 ! facial nerve disease is_a: DOID:4953 ! poliomyelitis [Term] id: DOID:9212 name: pityriasis rubra pilaris def: "A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma." [url:https\://pubmed.ncbi.nlm.nih.gov/29302927/] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Devergie's disease" EXACT [] xref: GARD:7401 xref: ICD10CM:L44.0 xref: ICD9CM:696.4 xref: MESH:D010916 xref: MIM:173200 xref: NCI:C85014 xref: SNOMEDCT_US_2023_03_01:3755001 xref: UMLS_CUI:C0032027 is_a: DOID:37 ! skin disease [Term] id: DOID:9214 name: obsolete Herpes simplex virus iridocyclitis def: "A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision." [url:http\://books.google.com/books?id=ydim6J7sFS4C&pg=PA504&lpg, url:http\://en.wikipedia.org/wiki/Iridocyclitis] synonym: "Herpes simplex iridocyclitis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9216 name: obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of head, face, and neck synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and neck (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and/or neck (disorder)" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face and neck" EXACT [] synonym: "Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face, and neck" RELATED [] is_obsolete: true [Term] id: DOID:9217 name: obsolete herpes zoster eyelid dermatitis def: "A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection." [url:http\://www.ophthalmic.hyperguides.com/tutorials/oculoplastics/eyelid_infections/tutorial.asp?module=pain] synonym: "Herpes Zoster Dermatitis of eyelid" EXACT [] synonym: "Herpes zoster dermatitis of eyelids (disorder)" EXACT [] synonym: "Herpes zoster with dermatitis of eyelid (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9220 name: central sleep apnea def: "A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing." [url:http\://en.wikipedia.org/wiki/Central_sleep_apnea, url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/] comment: Xref MGI. subset: NCIthesaurus synonym: "central sleep apnea syndrome" RELATED [] synonym: "primary central sleep apnea" EXACT [] xref: MESH:D020182 xref: MIM:107640 xref: MIM:207720 xref: NCI:C116046 xref: UMLS_CUI:C0520680 is_a: DOID:0050847 ! sleep apnea [Term] id: DOID:9222 name: obsolete lymphosarcoma involving lymph nodes of inguinal region and lower limb is_obsolete: true [Term] id: DOID:9224 name: obsolete vulva herpetic infectious disease is_obsolete: true [Term] id: DOID:9225 name: obsolete Hodgkin's sarcoma involving intrapelvic lymph nodes is_obsolete: true [Term] id: DOID:9227 name: obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of head, face, and neck synonym: "Hodgkin's disease, mixed cellularity of lymph nodes of head, face and neck (disorder)" EXACT [] synonym: "Hodgkin's disease, mixed cellularity of lymph nodes of head, face and/or neck (disorder)" EXACT [] synonym: "Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face and neck" EXACT [] synonym: "Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face, and neck" RELATED [] is_obsolete: true [Term] id: DOID:9228 name: obsolete congenital rubella def: "A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester." [url:http\://en.wikipedia.org/wiki/Congenital_rubella] synonym: "Congenital Rubella" EXACT [] synonym: "Congenital Rubella syndrome" EXACT [] synonym: "Congenital rubella syndrome" EXACT [] synonym: "Gestational rubella syndrome (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9230 name: pompholyx def: "A sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and has_symptom pruritis and cracked skin." [url:https\://jamanetwork.com/journals/jamadermatology/fullarticle/654498] synonym: "Cheiropompholyx" EXACT [] synonym: "dyshidrosis" EXACT [] synonym: "DYSHYDROTIC ECZEMA" EXACT [] synonym: "Vesicular eczema of hands and/or feet" EXACT [] xref: ICD9CM:705.81 xref: MESH:D011146 xref: SNOMEDCT_US_2023_03_01:402567004 xref: UMLS_CUI:C0032633 is_a: DOID:1383 ! sweat gland disease [Term] id: DOID:9234 name: kidney carcinoma in situ def: "An in situ carcinoma that is located_in the kidney." [url:https\://www.ncbi.nlm.nih.gov/pubmed/4417875] xref: ICD10CM:D09.1 xref: ICD9CM:233.9 xref: SNOMEDCT_US_2023_03_01:190185006 xref: UMLS_CUI:C0154092 is_a: DOID:557 ! kidney disease is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:9235 name: pyriform sinus cancer subset: NCIthesaurus synonym: "malignant neoplasm of pyriform fossa" EXACT [] synonym: "malignant neoplasm of the Pyriform Fossa" EXACT [] synonym: "malignant tumor of pyriform fossa" EXACT [] xref: ICD10CM:C12 xref: ICD9CM:148.1 xref: NCI:C3531 xref: SNOMEDCT_US_2023_03_01:363401000 xref: UMLS_CUI:C0153400 is_a: DOID:8533 ! hypopharynx cancer [Term] id: DOID:9240 name: erythromelalgia def: "A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature." [url:https\://en.wikipedia.org/wiki/Erythromelalgia, url:https\://ghr.nlm.nih.gov/condition/erythromelalgia, url:https\://rarediseases.org/rare-diseases/erythromelalgia/] subset: DO_rare_slim subset: NCIthesaurus synonym: "erythermalgia" EXACT [] xref: GARD:6377 xref: ICD10CM:I73.81 xref: ICD9CM:443.82 xref: MESH:D004916 xref: MIM:133020 xref: NCI:C34593 xref: SNOMEDCT_US_2023_03_01:238777005 xref: UMLS_CUI:C0014804 is_a: DOID:870 ! neuropathy [Term] id: DOID:9241 name: obsolete reticulosarcoma involving lymph nodes of axilla and upper limb synonym: "Reticulosarcoma of lymph nodes of axilla and upper limb (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9245 name: Alagille syndrome def: "A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts." [url:https\://research.nhgri.nih.gov/atlas/condition/alagille-syndrome, url:https\://www.niddk.nih.gov/health-information/liver-disease/alagille-syndrome/definition-facts] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Alagille-Watson syndrome" EXACT [] synonym: "Arteriohepatic dysplasia" EXACT [] xref: GARD:804 xref: ICD10CM:Q44.7 xref: MESH:D016738 xref: MIM:118450 xref: MIM:610205 xref: NCI:C35139 xref: ORDO:52 xref: SNOMEDCT_US_2023_03_01:31742004 xref: UMLS_CUI:C0085280 is_a: DOID:409 ! liver disease property_value: exactMatch "MESH:D016738" xsd:string [Term] id: DOID:9246 name: cerebral amyloid angiopathy def: "An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia." [url:http\://en.wikipedia.org/wiki/Cerebral_amyloid_angiopathy] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "Cerebral Hemorrhage, Hereditary, with Amyloidosis" EXACT [] synonym: "Hereditary Cerebral Hemorrhage with Amyloidosis" EXACT [] xref: MESH:D028243 xref: ORDO:85458 xref: SNOMEDCT_US_2023_03_01:45639009 xref: UMLS_CUI:C0268393 xref: UMLS_CUI:C1510489 xref: UMLS_CUI:C1527338 xref: UMLS_CUI:C1956349 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9120 ! amyloidosis [Term] id: DOID:9248 name: Pallister-Hall syndrome def: "A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14." [url:https\://pubmed.ncbi.nlm.nih.gov/31011455/, url:https\://pubmed.ncbi.nlm.nih.gov/8914745/, url:https\://research.nhgri.nih.gov/atlas/condition/pallister-hall-syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7305 xref: MESH:D054975 xref: MIM:146510 xref: NCI:C84987 xref: SNOMEDCT_US_2023_03_01:56677004 xref: UMLS_CUI:C0265220 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:9249 name: Beemer-Langer syndrome def: "A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly." [url:http\://en.wikipedia.org/wiki/Short_rib_%E2%80%93_polydactyly_syndrome, url:http\://www.springerlink.com/content/e0hmfh4fcl7m4kjw/] comment: OMIM mapping confirmed by DO. [LS]. synonym: "type IV short rib polydactyly syndrome" EXACT [] xref: MESH:C537599 xref: MIM:269860 xref: SNOMEDCT_US_2023_03_01:254052001 xref: UMLS_CUI:C0432198 is_a: DOID:225 ! syndrome [Term] id: DOID:9250 name: acrocallosal syndrome def: "A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation." [url:http\://en.wikipedia.org/wiki/Acrocallosal_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "ACLS" EXACT OMO:0003012 [] synonym: "SCHINZEL ACROCALLOSAL SYNDROME" EXACT [] synonym: "Schinzel syndrome 1" EXACT [] xref: GARD:5721 xref: MESH:D055673 xref: MIM:200990 xref: NCI:C84531 xref: SNOMEDCT_US_2023_03_01:715951007 xref: UMLS_CUI:C0796147 is_a: DOID:0080578 ! digenic disease is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:D055673" xsd:string [Term] id: DOID:9252 name: amino acid metabolic disorder def: "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids." [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_metabolism] subset: DO_rare_slim subset: NCIthesaurus synonym: "inborn errors of amino acid metabolism" EXACT [] xref: GARD:5793 xref: ICD10CM:E72.9 xref: ICD9CM:270 xref: MESH:D000592 xref: NCI:C97090 xref: SNOMEDCT_US_2023_03_01:42930003 xref: UMLS_CUI:C0002514 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9253 name: gastrointestinal stromal tumor comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "GANT" EXACT OMO:0003012 [] synonym: "gastrointestinal stromal tumour" EXACT [] synonym: "GIST" EXACT OMO:0003012 [] synonym: "Stromal tumor of gastrointestinal tract" EXACT [] synonym: "Stromal tumour of gastrointestinal tract" EXACT [] xref: GARD:8598 xref: ICD10CM:C49.A xref: ICDO:8936/3 xref: MESH:D046152 xref: MIM:606764 xref: NCI:C3868 xref: SNOMEDCT_US_2023_03_01:1187383001 xref: UMLS_CUI:C0238198 is_a: DOID:3119 ! gastrointestinal system cancer [Term] id: DOID:9254 name: mast-cell leukemia def: "A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood." [url:http\://medical-dictionary.thefreedictionary.com/mast+cell+leukemia] subset: DO_cancer_slim subset: NCIthesaurus xref: ICD10CM:C94.3 xref: ICDO:9742/3 xref: MESH:D007946 xref: NCI:C3169 xref: SNOMEDCT_US_2023_03_01:110002002 xref: UMLS_CUI:C0023461 is_a: DOID:1240 ! leukemia is_a: DOID:3664 ! mast cell neoplasm [Term] id: DOID:9255 name: frontotemporal dementia def: "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language." [url:http\://en.wikipedia.org/wiki/Frontotemporal_dementia, url:http\://www.mayoclinic.org/diseases-conditions/frontotemporal-dementia/basics/definition/con-20023876, url:https\://www.ncbi.nlm.nih.gov/pubmed/21121521, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/673/viewAbstract] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim synonym: "frontotemporal lobar degeneration" EXACT [] synonym: "multiple system tauopathy with presenile dementia" EXACT [] synonym: "pallidopontonigral degeneration" EXACT [] synonym: "Wilhemsen-Lynch disease" EXACT [] xref: GARD:8436 xref: MESH:C563003 xref: MIM:600274 xref: ORDO:282 xref: SNOMEDCT_US_2023_03_01:42369001 xref: UMLS_CUI:C0520716 is_a: DOID:1307 ! dementia is_a: DOID:936 ! brain disease property_value: exactMatch "MESH:D057180" xsd:string [Term] id: DOID:9256 name: colorectal cancer def: "A large intestine cancer that is located_in the colon and/or located_in the rectum." [url:http\://www.cancer.gov/dictionary?CdrID=444983] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_CFDE_slim subset: DO_FlyBase_slim subset: DO_RAD_slim subset: NCIthesaurus xref: ICD10CM:C18.9 xref: KEGG:05210 xref: MESH:D015179 xref: MIM:114500 xref: NCI:C2956 xref: NCI:C4978 xref: SNOMEDCT_US_2023_03_01:126837005 xref: SNOMEDCT_US_2023_03_01:93854002 xref: UMLS_CUI:C0009404 xref: UMLS_CUI:C0346629 is_a: DOID:5672 ! large intestine cancer [Term] id: DOID:9258 name: Waardenburg syndrome def: "A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes." [url:http\://en.wikipedia.org/wiki/Waardenburg_syndrome, url:http\://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "van der Hoeve Halbertsona Waardenburg syndrome" EXACT [] synonym: "Waardenburg Shah syndrome" EXACT [] synonym: "Waardenburg's syndrome" EXACT [] synonym: "Waardenburg, types I and/or II" NARROW [] xref: GARD:5525 xref: MESH:D014849 xref: MIM:PS193500 xref: NCI:C75008 xref: NCI:C85222 xref: ORDO:3440 xref: ORDO:895 xref: SNOMEDCT_US_2023_03_01:1010606009 xref: SNOMEDCT_US_2023_03_01:190695000 xref: SNOMEDCT_US_2023_03_01:47434006 xref: UMLS_CUI:C0079661 xref: UMLS_CUI:C1847800 xref: UMLS_CUI:C3266898 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:9261 name: nasopharynx carcinoma alt_id: DOID:8813 alt_id: DOID:8814 alt_id: DOID:9057 alt_id: DOID:9144 alt_id: DOID:9197 alt_id: DOID:9229 def: "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract." [url:http\://en.wikipedia.org/wiki/Nasopharyngeal_carcinoma] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "carcinoma of nasopharynx" RELATED [] synonym: "malignant Nasopharyngeal tumor" EXACT [] synonym: "malignant neoplasm of nasopharynx" EXACT [] synonym: "Nasopharyngeal carcinoma" EXACT [] synonym: "nasopharynx cancer" EXACT [] xref: GARD:7163 xref: ICD10CM:C11 xref: ICD10CM:C11.0 xref: ICD10CM:C11.1 xref: ICD10CM:C11.2 xref: ICD10CM:C11.3 xref: ICD9CM:147 xref: ICD9CM:147.0 xref: ICD9CM:147.1 xref: ICD9CM:147.2 xref: ICD9CM:147.3 xref: MESH:D009303 xref: MIM:161550 xref: MIM:607107 xref: NCI:C9321 xref: ORDO:150 xref: SNOMEDCT_US_2023_03_01:187692001 xref: SNOMEDCT_US_2023_03_01:187693006 xref: SNOMEDCT_US_2023_03_01:187700006 xref: SNOMEDCT_US_2023_03_01:363398003 xref: SNOMEDCT_US_2023_03_01:93919005 xref: SNOMEDCT_US_2023_03_01:94078000 xref: UMLS_CUI:C0153392 xref: UMLS_CUI:C0153393 xref: UMLS_CUI:C0153394 xref: UMLS_CUI:C0153395 xref: UMLS_CUI:C0153396 xref: UMLS_CUI:C0238301 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:0060119 ! pharynx cancer is_a: DOID:305 ! carcinoma is_a: DOID:9561 ! nasopharyngeal disease [Term] id: DOID:9263 name: homocystinuria def: "An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine." [url:http\://en.wikipedia.org/wiki/Homocystinuria] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "CBS deficiency" EXACT [] synonym: "cystathionine beta synthase deficiency" EXACT [] synonym: "cystathionine synthase deficiency" EXACT [] xref: GARD:10770 xref: ICD10CM:E72.11 xref: MESH:D006712 xref: MIM:236200 xref: MIM:236250 xref: NCI:C84765 xref: ORDO:394 xref: SNOMEDCT_US_2023_03_01:190709008 xref: UMLS_CUI:C0019880 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9264 name: obsolete sulfuraminoacidemia synonym: "Disturbance of sulfur-bearing amino acid metabolism NOS (disorder)" EXACT [] synonym: "Disturbance of sulphur-bearing amino-acid metabolism NOS" EXACT [] synonym: "Disturbances of sulphur-bearing amino-acid metabolism" EXACT [] synonym: "Sulphuraminoacidaemia" EXACT [] is_obsolete: true [Term] id: DOID:9265 name: histidine metabolism disease def: "An amino acid metabolic disorder that involves deficiency in histidine." [url:http\://en.wikipedia.org/wiki/Histidine#Metabolism] synonym: "Disturbances of histidine metabolism" EXACT [] xref: ICD10CM:E70.4 xref: ICD9CM:270.5 xref: SNOMEDCT_US_2023_03_01:44176004 xref: UMLS_CUI:C0268512 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9266 name: cystinuria def: "An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder." [url:http\://en.wikipedia.org/wiki/Cystinuria] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6237 xref: ICD10CM:E72.01 xref: MESH:D003555 xref: MIM:220100 xref: NCI:C84664 xref: ORDO:214 xref: SNOMEDCT_US_2023_03_01:154738008 xref: UMLS_CUI:C0010691 is_a: DOID:1426 ! ureteral disease is_a: DOID:365 ! bladder disease is_a: DOID:557 ! kidney disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9267 name: urea cycle disorder def: "An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream." [url:http\://en.wikipedia.org/wiki/Urea_cycle_disorder] subset: DO_rare_slim subset: NCIthesaurus synonym: "disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia" EXACT [] synonym: "disorder of urea cycle metabolism" EXACT [] synonym: "urea cycle defect" EXACT [] xref: GARD:7837 xref: ICD10CM:E72.2 xref: ICD9CM:270.6 xref: MESH:D056806 xref: NCI:C84785 xref: SNOMEDCT_US_2023_03_01:36444000 xref: UMLS_CUI:C0154246 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9268 name: glycine encephalopathy def: "An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues." [url:http\://en.wikipedia.org/wiki/Nonketotic_hyperglycinemia] subset: DO_rare_slim subset: NCIthesaurus synonym: "GCE" EXACT OMO:0003012 [] synonym: "NKH" EXACT OMO:0003012 [] synonym: "Non-ketotic hyperglycinemia" EXACT [] synonym: "nonketotic hyperglycinemia" EXACT [] xref: GARD:7219 xref: ICD10CM:E72.51 xref: MESH:D020158 xref: MIM:PS605899 xref: NCI:C84937 xref: ORDO:407 xref: SNOMEDCT_US_2023_03_01:237939006 xref: UMLS_CUI:C0751748 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9269 name: maple syrup urine disease def: "An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "branched chain ketoaciduria" EXACT [] synonym: "dihydrolipoamide dehydrogenase deficiency" RELATED [MIM:246900] synonym: "Ketoacidaemia" EXACT [] xref: GARD:3228 xref: ICD10CM:E71.0 xref: MESH:D008375 xref: MIM:246900 xref: MIM:248600 xref: MIM:615135 xref: NCI:C34806 xref: ORDO:511 xref: SNOMEDCT_US_2023_03_01:27718001 xref: UMLS_CUI:C0024776 is_a: DOID:0060159 ! organic acidemia [Term] id: DOID:927 name: obsolete metastatic malignant neoplasm to brain synonym: "metastatic neoplasm to the Brain" EXACT [] synonym: "secondary malignant neoplasm of brain (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9270 name: alkaptonuria alt_id: DOID:0050714 def: "An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct." [url:http\://en.wikipedia.org/wiki/Alkaptonuria] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "alcaptonuria" EXACT [] synonym: "deficiency of homogentisicase" RELATED [] synonym: "Homogentisate 1,2-dioxygenase deficiency" EXACT [] xref: GARD:5775 xref: ICD10CM:E70.29 xref: MESH:D000474 xref: MIM:203500 xref: NCI:C84546 xref: ORDO:56 xref: SNOMEDCT_US_2023_03_01:24250001 xref: UMLS_CUI:C0002066 is_a: DOID:9252 ! amino acid metabolic disorder property_value: exactMatch "MESH:D000474" xsd:string [Term] id: DOID:9271 name: ornithine carbamoyltransferase deficiency def: "An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." [url:http\://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "deficiency of citrulline phosphorylase" EXACT [] synonym: "ornithine transcarbamylase deficiency" EXACT [] xref: GARD:8391 xref: ICD10CM:E72.4 xref: MESH:D020163 xref: MIM:311250 xref: NCI:C84957 xref: SNOMEDCT_US_2023_03_01:80908008 xref: UMLS_CUI:C0268542 is_a: DOID:9267 ! urea cycle disorder [Term] id: DOID:9273 name: citrullinemia def: "An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood." [url:http\://en.wikipedia.org/wiki/Citrullinemia] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "ASS deficiency" EXACT [] synonym: "deficiency of citrulline-aspartate ligase" EXACT [] xref: ICD10CM:E72.23 xref: MESH:D020159 xref: NCI:C84639 xref: ORDO:187 xref: SNOMEDCT_US_2023_03_01:15489004 xref: UMLS_CUI:C0175683 is_a: DOID:9267 ! urea cycle disorder [Term] id: DOID:9274 name: hyperlysinemia def: "An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood." [url:http\://en.wikipedia.org/wiki/Hyperlysinemia] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:2828 xref: ICD10CM:E72.3 xref: MESH:D020167 xref: MIM:238700 xref: MIM:238710 xref: NCI:C123433 xref: ORDO:2203 xref: SNOMEDCT_US_2023_03_01:58558003 xref: UMLS_CUI:C0268553 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9275 name: tyrosinemia def: "An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine." [url:http\://en.wikipedia.org/wiki/Tyrosinemia] comment: OMIM mapping submitted by NeuroDevNet. [LS]. xref: ICD10CM:E70.21 xref: SNOMEDCT_US_2023_03_01:190694001 xref: UMLS_CUI:C0268483 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9277 name: primary cerebellar degeneration xref: ICD9CM:334.2 xref: MESH:D013132 xref: SNOMEDCT_US_2023_03_01:192868000 xref: UMLS_CUI:C0033132 is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:9278 name: hyperargininemia def: "An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine." [url:https\://www.medlink.com/articles/hyperargininemia] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Arginase deficiency" EXACT [] synonym: "argininemia" EXACT [] synonym: "deficiency of canavanase" EXACT [] xref: ICD10CM:E72.21 xref: MESH:D020162 xref: MIM:207800 xref: NCI:C84568 xref: SNOMEDCT_US_2023_03_01:23501004 xref: UMLS_CUI:C0268548 is_a: DOID:9267 ! urea cycle disorder [Term] id: DOID:9279 name: hyperhomocysteinemia def: "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood." [url:http\://en.wikipedia.org/wiki/Hyperhomocysteinemia] subset: NCIthesaurus xref: MESH:D020138 xref: MIM:603174 xref: NCI:C84770 xref: SNOMEDCT_US_2023_03_01:419503008 xref: UMLS_CUI:C0598608 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:928 name: obsolete CNS metastases synonym: "CNS metastases (tumor staging)" EXACT [] synonym: "metastatic tumor to the CNS" EXACT [] is_obsolete: true [Term] id: DOID:9280 name: carbamoyl phosphate synthetase I deficiency disease def: "A urea cycle disorder that involves accumulation of ammonia in the blood." [url:http\://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "CPS I deficiency" EXACT [] xref: GARD:7269 xref: MESH:D020165 xref: MIM:237300 xref: NCI:C84612 xref: SNOMEDCT_US_2023_03_01:765329008 xref: UMLS_CUI:C0751753 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9267 ! urea cycle disorder [Term] id: DOID:9281 name: phenylketonuria alt_id: DOID:14455 def: "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional." [url:http\://en.wikipedia.org/wiki/Phenylketonuria, url:https\://www.genome.gov/Genetic-Disorders/Phenylketonuria] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Folling's disease" EXACT [] synonym: "maternal phenylketonuria" EXACT [] synonym: "phenylalaninemia" EXACT [] synonym: "PKU" EXACT OMO:0003012 [] xref: GARD:7383 xref: ICD9CM:270.1 xref: MESH:D010661 xref: MESH:D017042 xref: MIM:261600 xref: NCI:C81315 xref: ORDO:716 xref: SNOMEDCT_US_2023_03_01:154735006 xref: SNOMEDCT_US_2023_03_01:297225000 xref: UMLS_CUI:C0031485 xref: UMLS_CUI:C0085547 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9282 name: ocular hypertension def: "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss." [url:https\://en.wikipedia.org/wiki/Ocular_hypertension] subset: NCIthesaurus xref: ICD10CM:H40.05 xref: ICD9CM:365.04 xref: MESH:D009798 xref: NCI:C3285 xref: SNOMEDCT_US_2023_03_01:267721003 xref: UMLS_CUI:C0028840 is_a: DOID:5614 ! eye disease [Term] id: DOID:9283 name: borderline glaucoma def: "A glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055310/] synonym: "Preglaucoma" EXACT [] xref: ICD10CM:H40.00 xref: ICD9CM:365.00 xref: SNOMEDCT_US_2023_03_01:359633007 xref: UMLS_CUI:C0549470 is_a: DOID:1686 ! glaucoma [Term] id: DOID:9286 name: priapism def: "A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain." [url:http\://en.wikipedia.org/wiki/Priapism, url:http\://my.clevelandclinic.org/disorders/priapism/hic_priapism.aspx] subset: DO_rare_slim subset: NCIthesaurus synonym: "Mentulagra" EXACT [] xref: GARD:10016 xref: ICD10CM:N48.3 xref: ICD9CM:607.3 xref: MESH:D011317 xref: NCI:C85022 xref: SNOMEDCT_US_2023_03_01:155930001 xref: UMLS_CUI:C0033117 is_a: DOID:1529 ! penile disease is_a: DOID:341 ! peripheral vascular disease [Term] id: DOID:9287 name: obsolete penile vascular disorder synonym: "vascular disorder of penis" EXACT [] is_obsolete: true [Term] id: DOID:929 name: myopathy of extraocular muscle synonym: "Myopathy of extraocular muscles" EXACT [] xref: ICD10CM:H05.82 xref: ICD9CM:376.82 xref: SNOMEDCT_US_2023_03_01:57130002 xref: UMLS_CUI:C0155286 is_a: DOID:423 ! myopathy [Term] id: DOID:9296 name: cleft lip alt_id: DOID:9333 def: "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences." [url:https\://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate, url:https\://www.cdc.gov/ncbddd/birthdefects/cleftlip.html] subset: NCIthesaurus synonym: "cheiloschisis" EXACT [] synonym: "cleft lip, unilateral, complete" EXACT [] synonym: "complete unilateral cleft lip" EXACT [] synonym: "hare lip" EXACT [] synonym: "Labium leporinum" EXACT [] xref: EFO:0003959 xref: ICD10CM:Q36 xref: ICD9CM:749.1 xref: ICD9CM:749.11 xref: MESH:D002971 xref: NCI:C87175 xref: SNOMEDCT_US_2023_03_01:156941008 xref: SNOMEDCT_US_2023_03_01:62696001 xref: UMLS_CUI:C0008924 xref: UMLS_CUI:C0158651 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:9297 ! lip disease [Term] id: DOID:9297 name: lip disease def: "A mouth disease located_in the lip." [url:https\://www.merckmanuals.com/home/mouth-and-dental-disorders/lip-and-tongue-disorders/lip-sores-lip-inflammation-and-other-changes] subset: NCIthesaurus synonym: "disease of lips" EXACT [] xref: ICD10CM:K13.0 xref: ICD9CM:528.5 xref: MESH:D008047 xref: NCI:C26818 xref: SNOMEDCT_US_2023_03_01:90678009 xref: UMLS_CUI:C0023760 is_a: DOID:403 ! mouth disease [Term] id: DOID:9299 name: myocardium cancer alt_id: DOID:14536 subset: NCIthesaurus synonym: "malignant Myocardial tumor" EXACT [] synonym: "malignant neoplasm of myocardium" EXACT [] synonym: "tumor of Myocardium" EXACT [] xref: NCI:C4569 xref: NCI:C5349 xref: SNOMEDCT_US_2023_03_01:126732009 xref: SNOMEDCT_US_2023_03_01:363437005 xref: UMLS_CUI:C0346611 xref: UMLS_CUI:C1290402 is_a: DOID:117 ! heart cancer [Term] id: DOID:93 name: language disorder def: "A communication disorder that involves the processing of linguistic information." [url:http\://en.wikipedia.org/wiki/Language_disorder] subset: NCIthesaurus xref: ICD10CM:F80.9 xref: MESH:D007806 xref: NCI:C97155 xref: SNOMEDCT_US_2023_03_01:62305002 xref: UMLS_CUI:C0023015 is_a: DOID:2033 ! communication disorder [Term] id: DOID:930 name: orbital disease def: "An adnexa disease that is located_in the eye socket." [url:http\://www.hopkinsmedicine.org/wilmer/services/oculofacial_plastic_surgery/reconstructive/orbital_disease.html] xref: ICD10CM:H05.9 xref: ICD9CM:376.9 xref: MESH:D009916 xref: SNOMEDCT_US_2023_03_01:267746003 xref: UMLS_CUI:C0029182 is_a: DOID:0080001 ! bone disease [Term] id: DOID:9300 name: neurofibroma of the heart subset: NCIthesaurus synonym: "Neurofibroma of Heart" EXACT [] xref: NCI:C5359 xref: UMLS_CUI:C1096349 is_a: DOID:962 ! neurofibroma [Term] id: DOID:9305 name: splenic tuberculosis def: "An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." [url:https\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease xref: ICD10CM:A18.85 xref: ICD9CM:017.7 xref: MESH:D014400 xref: SNOMEDCT_US_2023_03_01:28399005 xref: UMLS_CUI:C0041331 is_a: DOID:0050599 ! abdominal tuberculosis is_a: DOID:2529 ! splenic disease [Term] id: DOID:9306 name: mechanical strabismus xref: ICD10CM:H50.6 xref: ICD9CM:378.6 xref: MESH:D013285 xref: SNOMEDCT_US_2023_03_01:5371001 xref: UMLS_CUI:C0152223 is_a: DOID:540 ! strabismus [Term] id: DOID:9307 name: rectal prolapse subset: NCIthesaurus synonym: "Procidentia, rectum" EXACT [] xref: ICD10CM:K62.3 xref: ICD9CM:569.1 xref: MESH:D012005 xref: NCI:C34973 xref: SNOMEDCT_US_2023_03_01:197214005 xref: UMLS_CUI:C0034888 is_a: DOID:1285 ! rectal disease [Term] id: DOID:931 name: monieziasis def: "A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15287174] subset: DO_infectious_disease_slim subset: zoonotic_infectious_disease xref: MESH:D008989 xref: UMLS_CUI:C0026414 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:9310 name: nasal cavity benign neoplasm def: "A respiratory system benign neoplasm that arises from the nasal cavity." [url:https\://www.mayoclinic.org/diseases-conditions/nasal-paranasal-tumors/symptoms-causes/syc-20354136] subset: NCIthesaurus synonym: "Benign Nasal Cavity Neoplasm" EXACT [] synonym: "neoplasm of nasal cavity" EXACT [] synonym: "tumor of the nasal cavity" EXACT [] xref: NCI:C4603 xref: SNOMEDCT_US_2023_03_01:188874008 xref: UMLS_CUI:C0347215 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:2163 ! nasal cavity disease [Term] id: DOID:9312 name: chronic ethmoiditis def: "A ethmoid sinusitis which lasts for 12 weeks or more." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html] subset: NCIthesaurus synonym: "chronic ethmoid sinusitis" EXACT [] synonym: "chronic ethmoidal sinusitis" EXACT [] synonym: "ethmoidal sinusitis - chronic" EXACT [] xref: ICD10CM:J32.2 xref: ICD9CM:473.2 xref: NCI:C34472 xref: SNOMEDCT_US_2023_03_01:155528009 xref: UMLS_CUI:C0008681 is_a: DOID:9507 ! ethmoid sinusitis [Term] id: DOID:9314 name: obsolete glaucoma associated with anomalies of iris synonym: "Glaucoma associated with anomalies of iris (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9317 name: lymphangitis def: "A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning." [url:http\://en.wikipedia.org/wiki/Lymphangitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Lymphangitis] subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus xref: ICD10CM:I89.1 xref: ICD9CM:457.2 xref: MESH:D008205 xref: NCI:C34790 xref: SNOMEDCT_US_2023_03_01:1415005 xref: UMLS_CUI:C0024225 is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:9321 name: obsolete intervertebral disc disorder alt_id: DOID:10984 alt_id: DOID:10985 alt_id: DOID:12831 synonym: "Displacement of lumbar intervertebral disc without myelopathy" EXACT [] synonym: "Displacement of lumbar intervertebral disc without myelopathy (disorder)" EXACT [] synonym: "displacement of the lumbar or lumbosacral intervertebral disc without myelopathy" EXACT [] synonym: "displacement of thoracic intervertebral disc without myelopathy" EXACT [] synonym: "Displacement of thoracic intervertebral disc without myelopathy (disorder)" EXACT [] synonym: "displacement of thoracic or lumbar intervertebral disc without myelopathy" EXACT [] is_obsolete: true [Term] id: DOID:933 name: obsolete Cestoda infectious disease alt_id: DOID:10077 def: "A parasitic helminthiasis infectious disease that involves infection by parasitic flatworms known as tapeworms living in the vertebrate digestive tract." [url:http\://en.wikipedia.org/wiki/Cestodes] synonym: "Cestode infection (disorder)" EXACT [] synonym: "Cestode infection NOS (disorder)" EXACT [] synonym: "Cestode infection, unspecified (disorder)" EXACT [] synonym: "Cestode infestation" EXACT [] synonym: "disease due to Cestoda" EXACT [] synonym: "Infection by Taenia (disorder)" EXACT [] synonym: "Taenia infestation" EXACT [] synonym: "Taeniasis, unspecified" EXACT [] synonym: "Taeniasis, unspecified (disorder)" EXACT [] synonym: "Tapeworm infection NOS" EXACT [] synonym: "teniasis" EXACT [] synonym: "Unspecified teniasis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9335 name: scotoma alt_id: DOID:10750 alt_id: DOID:10751 alt_id: DOID:9482 synonym: "Blind spot area scotoma" EXACT [] synonym: "Enlarged angioscotoma" EXACT [] synonym: "Enlarged blind spot" EXACT [] synonym: "Enlarged paracaecal scotoma" EXACT [] synonym: "Generalized visual field contraction or constriction" EXACT [] synonym: "Scotoma of blind spot area" EXACT [] synonym: "Sector or arcuate visual field defects" EXACT [] xref: ICD10CM:H53.42 xref: ICD10CM:H53.45 xref: ICD9CM:368.42 xref: ICD9CM:368.44 xref: SNOMEDCT_US_2023_03_01:33970004 xref: UMLS_CUI:C0029657 xref: UMLS_CUI:C0152192 is_a: DOID:5614 ! eye disease [Term] id: DOID:9336 name: bestiality synonym: "Zoophilia" EXACT [] xref: ICD9CM:302.1 xref: SNOMEDCT_US_2023_03_01:154907002 xref: UMLS_CUI:C0152186 is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:9339 name: urethral false passage xref: ICD10CM:N36.5 xref: ICD9CM:599.4 xref: SNOMEDCT_US_2023_03_01:74944002 xref: UMLS_CUI:C0156286 is_a: DOID:732 ! urethral disease [Term] id: DOID:934 name: viral infectious disease alt_id: DOID:1329 def: "A disease by infectious agent that results in infection, has_material_basis_in Viruses." [url:http\://www.merck.com/mmhe/sec17/ch198/ch198a.html] subset: DO_AGR_slim subset: DO_FlyBase_slim subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Viral disease" EXACT [] synonym: "Viral Infection" EXACT [] synonym: "virus infection" EXACT [] xref: ICD10CM:A94 xref: ICD10CM:B34.9 xref: ICD9CM:060-066.99 xref: MESH:D001102 xref: MESH:D014777 xref: NCI:C3439 xref: NCI:C34396 xref: SNOMEDCT_US_2023_03_01:34014006 xref: SNOMEDCT_US_2023_03_01:40610006 xref: UMLS_CUI:C0003723 xref: UMLS_CUI:C0042769 is_a: DOID:0050117 ! disease by infectious agent [Term] id: DOID:9340 name: obsolete cheilopalatoschisis alt_id: DOID:12562 alt_id: DOID:12833 synonym: "cleft palate with cleft lip, unilateral, complete" EXACT [] synonym: "cleft palate with cleft lip, unilateral, incomplete" EXACT [] synonym: "Complete unilateral cleft palate with cleft lip (disorder)" EXACT [] synonym: "incomplete unilateral cleft palate with cleft lip (disorder)" EXACT [] synonym: "Unilateral complete cleft palate with cleft lip" EXACT [] synonym: "Unilateral complete cleft palate with cleft lip (disorder)" EXACT [] synonym: "Unilateral incomplete cleft palate with cleft lip" EXACT [] synonym: "Unilateral incomplete cleft palate with cleft lip (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9341 name: urethral diverticulum subset: NCIthesaurus xref: ICD10CM:N36.1 xref: ICD9CM:599.2 xref: NCI:C39861 xref: SNOMEDCT_US_2023_03_01:90531003 xref: UMLS_CUI:C0152443 is_a: DOID:732 ! urethral disease [Term] id: DOID:9346 name: Taylor's syndrome synonym: "Congestion-fibrosis syndrome" EXACT [] synonym: "pelvic congestion syndrome" EXACT [] synonym: "Taylor syndrome" EXACT [] xref: ICD9CM:625.5 xref: SNOMEDCT_US_2023_03_01:156027002 xref: UMLS_CUI:C0152078 is_a: DOID:345 ! uterine disease [Term] id: DOID:9348 name: carotid artery dissection subset: NCIthesaurus synonym: "Dissection of carotid artery" EXACT [] xref: ICD10CM:I77.71 xref: ICD9CM:443.21 xref: NCI:C125662 xref: SNOMEDCT_US_2023_03_01:230729006 xref: UMLS_CUI:C0338585 is_a: DOID:3407 ! carotid artery disease [Term] id: DOID:9351 name: diabetes mellitus alt_id: DOID:0081062 def: "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both." [url:http\://www.who.int/diabetes/action_online/basics/en/, url:https\://en.wikipedia.org/wiki/Diabetes_mellitus, url:https\://medlineplus.gov/diabetes.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/9686693] subset: NCIthesaurus synonym: "diabetes" EXACT [] xref: ICD10CM:E08-E13 xref: ICD9CM:250 xref: MESH:D003920 xref: NCI:C2985 xref: SNOMEDCT_US_2023_03_01:267467004 xref: UMLS_CUI:C0011849 is_a: DOID:4194 ! glucose metabolism disease [Term] id: DOID:9352 name: type 2 diabetes mellitus def: "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin." [url:http\://en.wikipedia.org/wiki/Diabetes, url:http\://en.wikipedia.org/wiki/Diabetes_mellitus_type_2] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: NCIthesaurus synonym: "insulin resistance" EXACT [] synonym: "NIDDM" EXACT OMO:0003012 [] synonym: "non-insulin-dependent diabetes mellitus" EXACT [] synonym: "type 2 diabetes" EXACT [] synonym: "type II diabetes mellitus" EXACT [] xref: ICD10CM:E11 xref: KEGG:04930 xref: MESH:D003924 xref: MIM:125853 xref: MIM:601283 xref: MIM:601407 xref: MIM:603694 xref: MIM:608036 xref: NCI:C26747 xref: SNOMEDCT_US_2023_03_01:44054006 xref: UMLS_CUI:C0011860 is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9353 name: obsolete congenital hip dislocation synonym: "Congen. disloc. hip" EXACT [] synonym: "Congenital dislocation of hip" EXACT [] synonym: "Congenital dislocation of hip NOS" EXACT [] synonym: "Congenital dislocation of hip NOS (disorder)" EXACT [] synonym: "Congenital dysplasia of the hip" EXACT [] synonym: "Developmental dislocation of hip" EXACT [] synonym: "Developmental dysplasia of the hip" EXACT [] is_obsolete: true [Term] id: DOID:9357 name: obsolete hyperemesis gravidarum is_obsolete: true [Term] id: DOID:9358 name: fibular collateral ligament bursitis xref: ICD9CM:726.63 xref: SNOMEDCT_US_2023_03_01:77323000 xref: UMLS_CUI:C0158316 is_a: DOID:0080001 ! bone disease is_a: DOID:204 ! enthesopathy [Term] id: DOID:9359 name: obsolete enthesopathy of knee is_obsolete: true [Term] id: DOID:936 name: brain disease alt_id: DOID:8510 def: "A central nervous system disease that is located_in the brain." [url:https\://medlineplus.gov/braindiseases.html] subset: NCIthesaurus synonym: "encephalopathy" EXACT [] xref: ICD10CM:G93.40 xref: ICD10CM:G93.9 xref: ICD9CM:348.30 xref: ICD9CM:348.9 xref: MESH:D001927 xref: NCI:C26920 xref: NCI:C96413 xref: SNOMEDCT_US_2023_03_01:81308009 xref: UMLS_CUI:C0006111 xref: UMLS_CUI:C0085584 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:9360 name: intrinsic asthma alt_id: DOID:9361 alt_id: DOID:9363 def: "A chronic asthma that is triggered by factors not attributable to allergies." [url:http\://www.aafa.org/display.cfm?id=8&sub=17, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1532783/pdf/califmed00272-0002b.pdf, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099102/] synonym: "non-atopic asthma" EXACT [] xref: ICD10CM:J45 xref: ICD9CM:493.1 xref: SNOMEDCT_US_2023_03_01:266397004 xref: UMLS_CUI:C0155880 is_a: DOID:0080809 ! chronic asthma [Term] id: DOID:9362 name: status asthmaticus def: "An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant." [url:https\://www.ncbi.nlm.nih.gov/books/NBK526070/, url:https\://www.ncbi.nlm.nih.gov/pubmed/11399724] subset: NCIthesaurus synonym: "Asthma with status asthmaticus" EXACT [] synonym: "Severe asthma attack" EXACT [] xref: ICD9CM:493.91 xref: MESH:D013224 xref: NCI:C122577 xref: SNOMEDCT_US_2023_03_01:36979006 xref: UMLS_CUI:C0038218 is_a: DOID:0080810 ! acute asthma [Term] id: DOID:9365 name: vesiculitis synonym: "Seminal vesiculitis" EXACT [] xref: ICD10CM:N49.0 xref: ICD9CM:608.0 xref: SNOMEDCT_US_2023_03_01:155935006 xref: UMLS_CUI:C0042588 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:9368 name: keratoconjunctivitis alt_id: DOID:9367 subset: NCIthesaurus xref: ICD10CM:H16.2 xref: ICD9CM:370.40 xref: MESH:D007637 xref: NCI:C34744 xref: SNOMEDCT_US_2023_03_01:155154005 xref: UMLS_CUI:C0022573 is_a: DOID:5614 ! eye disease [Term] id: DOID:9369 name: orbital plasma cell granuloma synonym: "orbital myositis" EXACT [] synonym: "Pseudotumor of orbit" EXACT [] xref: ICD10CM:H05.11 xref: MESH:D016727 xref: SNOMEDCT_US_2023_03_01:72789009 xref: UMLS_CUI:C0085270 is_a: DOID:1397 ! chronic orbital inflammation [Term] id: DOID:937 name: obsolete DNA virus infectious disease def: "A viral infectious disease that results_in infection, has_material_basis_in DNA viruses, which have DNA as their genetic material and replicate using a DNA-dependent DNA polymerase." [url:http\://en.wikipedia.org/wiki/DNA_viruses] is_obsolete: true [Term] id: DOID:9370 name: obsolete exophthalmos def: "An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit." [url:http\://en.wikipedia.org/wiki/Exophthalmos] comment: doid/symp duplicate - reviewed 10/2022 & determined to be a symptom subset: NCIthesaurus synonym: "proptosis" EXACT [] xref: ICD10CM:H05.20 xref: ICD9CM:376.30 xref: MESH:D005094 xref: NCI:C87114 xref: SNOMEDCT_US_2022_03_01:155200004 xref: UMLS_CUI:C0015300 is_obsolete: true [Term] id: DOID:9373 name: postural kyphosis def: "A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra." [url:http\://en.wikipedia.org/wiki/Kyphosis, url:http\://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html, url:http\://www.mayoclinic.com/health/kyphosis/DS00681/DSECTION=causes] is_a: DOID:4667 ! kyphosis [Term] id: DOID:9375 name: Fuchs' heterochromic uveitis def: "A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface." [url:http\://en.wikipedia.org/wiki/Fuchs_heterochromic_iridocyclitis] subset: DO_rare_slim synonym: "Fuch's Heterochromic iridocyclitis" EXACT [] synonym: "Fuchs uveitis syndrome" EXACT [] synonym: "Fuchs' heterochromic cyclitis" EXACT [] xref: GARD:6791 xref: ICD10CM:H20.81 xref: ICD9CM:364.21 xref: SNOMEDCT_US_2023_03_01:11226001 xref: UMLS_CUI:C0016782 is_a: DOID:225 ! syndrome [Term] id: DOID:9377 name: obsolete pigment dispersion syndrome of iris synonym: "Pigmentary iris degeneration" EXACT [] synonym: "Pigmentary iris degeneration (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9378 name: glaucomatocyclitic crisis subset: DO_rare_slim synonym: "Posner-Schlossman syndrome" EXACT [] synonym: "Terrien-Viel syndrome" EXACT [] xref: GARD:10737 xref: ICD9CM:364.22 xref: SNOMEDCT_US_2023_03_01:29538005 xref: UMLS_CUI:C0152138 is_a: DOID:9383 ! iridocyclitis [Term] id: DOID:9379 name: obsolete glaucoma with ocular inflammation synonym: "Glaucoma associated with ocular inflammations" EXACT [] synonym: "Glaucoma associated with ocular inflammations (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9383 name: iridocyclitis alt_id: DOID:9376 alt_id: DOID:9380 synonym: "primary iridocyclitis" EXACT [] xref: ICD10CM:H20.01 xref: ICD9CM:364.01 xref: ICD9CM:364.2 xref: SNOMEDCT_US_2023_03_01:193485000 xref: SNOMEDCT_US_2023_03_01:193496008 xref: UMLS_CUI:C0007832 xref: UMLS_CUI:C0154909 is_a: DOID:1407 ! anterior uveitis property_value: exactMatch "MESH:D015863" xsd:string [Term] id: DOID:9384 name: gonococcal iridocyclitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease xref: ICD10CM:A54.32 xref: ICD9CM:098.41 xref: SNOMEDCT_US_2023_03_01:186922002 xref: UMLS_CUI:C0153212 is_a: DOID:9383 ! iridocyclitis [Term] id: DOID:9385 name: obsolete gonococcal eye infectious disease subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease is_obsolete: true [Term] id: DOID:9388 name: lens-induced iridocyclitis xref: ICD10CM:H20.2 xref: ICD9CM:364.23 xref: SNOMEDCT_US_2023_03_01:70461003 xref: UMLS_CUI:C0339320 is_a: DOID:9383 ! iridocyclitis [Term] id: DOID:9389 name: infectious anterior uveitis synonym: "Infectious secondary iridocyclitis" EXACT [] synonym: "secondary infected iridocyclitis" EXACT [] synonym: "secondary iridocyclitis, infectious" EXACT [] xref: ICD10CM:H20.03 xref: ICD9CM:364.03 xref: SNOMEDCT_US_2023_03_01:193487008 xref: UMLS_CUI:C0154911 is_a: DOID:9383 ! iridocyclitis [Term] id: DOID:9392 name: tracheitis alt_id: DOID:0050149 alt_id: DOID:9391 def: "A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." [url:http\://www.merck.com/mmpe/sec19/ch277/ch277j.html?qt=tracheitis&alt=sh] subset: NCIthesaurus synonym: "acute tracheitis" EXACT [] synonym: "chronic tracheitis" EXACT [] xref: ICD10CM:J04.1 xref: ICD9CM:464.1 xref: MESH:D014136 xref: NCI:C78643 xref: SNOMEDCT_US_2023_03_01:155507000 xref: SNOMEDCT_US_2023_03_01:62994001 xref: UMLS_CUI:C0040584 xref: UMLS_CUI:C0149513 is_a: DOID:3225 ! tracheal disease property_value: exactMatch "MESH:D014136" xsd:string [Term] id: DOID:9395 name: croup def: "A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus." [url:http\://books.google.com/books?id=G6k0tpPMRsIC&pg=PA254&lpg=PA254&dq#v=onepage&q=&f=false, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000959.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=croup] subset: NCIthesaurus synonym: "acute laryngotracheobronchitis" EXACT [] synonym: "acute Obstructive Laryngitis" EXACT [] synonym: "Croup syndrome" EXACT [] synonym: "Laryngotracheobronchitis" EXACT [] xref: ICD10CM:J05.0 xref: ICD9CM:464.4 xref: MESH:D003440 xref: NCI:C26735 xref: SNOMEDCT_US_2023_03_01:71186008 xref: UMLS_CUI:C0010380 is_a: DOID:1579 ! respiratory system disease [Term] id: DOID:9396 name: acute laryngitis alt_id: DOID:12334 def: "A laryngitis which lasts less than a few days." [url:http\://en.wikipedia.org/wiki/Laryngitis] subset: NCIthesaurus xref: ICD10CM:J04.0 xref: ICD9CM:464.0 xref: ICD9CM:464.01 xref: NCI:C26688 xref: SNOMEDCT_US_2023_03_01:155506009 xref: SNOMEDCT_US_2023_03_01:408669002 xref: UMLS_CUI:C0001327 xref: UMLS_CUI:C0949123 is_a: DOID:3437 ! laryngitis [Term] id: DOID:9398 name: epiglottitis alt_id: DOID:9397 alt_id: DOID:9479 alt_id: DOID:9481 def: "An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor." [url:http\://en.wikipedia.org/wiki/Epiglottitis] subset: NCIthesaurus synonym: "acute epiglottitis" EXACT [] synonym: "acute epiglottitis and supraglottitis" EXACT [] xref: ICD10CM:J05.1 xref: ICD10CM:J05.10 xref: ICD9CM:464.3 xref: MESH:D004826 xref: NCI:C116007 xref: SNOMEDCT_US_2023_03_01:29608009 xref: SNOMEDCT_US_2023_03_01:80384002 xref: UMLS_CUI:C0014541 xref: UMLS_CUI:C0155814 is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:9401 name: epididymo-orchitis xref: ICD10CM:N45.3 xref: ICD9CM:604 xref: SNOMEDCT_US_2023_03_01:24084007 xref: UMLS_CUI:C0149881 is_a: DOID:9402 ! epididymitis [Term] id: DOID:9402 name: epididymitis xref: ICD10CM:N45.1 xref: MESH:D004823 xref: SNOMEDCT_US_2023_03_01:155914009 xref: UMLS_CUI:C0014534 is_a: DOID:0080373 ! epididymis disease [Term] id: DOID:9403 name: obsolete isolated explosive disorder is_obsolete: true [Term] id: DOID:9405 name: obsolete pituitary dwarfism synonym: "Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)]" EXACT [] synonym: "hypopituitary dwarfism" EXACT [] synonym: "Lorain - Levi dwarfism" EXACT [] is_obsolete: true [Term] id: DOID:9406 name: hypopituitarism def: "A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland." [url:http\://en.wikipedia.org/wiki/Hypopituitarism] comment: Xref MGI. subset: DO_rare_slim subset: NCIthesaurus synonym: "pituitary hormone deficiency" EXACT [] synonym: "Pituitary hypofunction" RELATED [] synonym: "Pituitary insufficiency" EXACT [] xref: GARD:2917 xref: ICD10CM:E23.0 xref: MESH:D007018 xref: MIM:221750 xref: MIM:262600 xref: MIM:262700 xref: MIM:613038 xref: MIM:613986 xref: NCI:C62591 xref: ORDO:95494 xref: SNOMEDCT_US_2023_03_01:74728003 xref: UMLS_CUI:C0020635 is_a: DOID:53 ! pituitary gland disease [Term] id: DOID:9407 name: strictly posterior acute myocardial infarction xref: ICD9CM:410.60 xref: UMLS_CUI:C0155652 is_a: DOID:9408 ! acute myocardial infarction [Term] id: DOID:9408 name: acute myocardial infarction subset: NCIthesaurus xref: ICD10CM:I21 xref: ICD9CM:410 xref: NCI:C35204 xref: SNOMEDCT_US_2023_03_01:155304006 xref: UMLS_CUI:C0155626 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:9409 name: diabetes insipidus def: "A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration." [url:https\://pubmed.ncbi.nlm.nih.gov/26913870/, url:https\://pubmed.ncbi.nlm.nih.gov/27156759/, url:https\://pubmed.ncbi.nlm.nih.gov/28476225/, url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7426034/] subset: NCIthesaurus xref: ICD10CM:E23.2 xref: ICD9CM:253.5 xref: MESH:D003919 xref: NCI:C43263 xref: SNOMEDCT_US_2023_03_01:190484000 xref: UMLS_CUI:C0011848 is_a: DOID:557 ! kidney disease [Term] id: DOID:9410 name: panhypopituitarism def: "A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27828722] subset: DO_rare_slim subset: NCIthesaurus synonym: "combined pituitary hormone deficiency" EXACT [] synonym: "Simmond's disease" EXACT [] synonym: "Simmonds' disease" EXACT [] xref: ICD10CM:E23.0 xref: ICD9CM:253.2 xref: MESH:C580003 xref: MIM:PS613038 xref: NCI:C110940 xref: ORDO:90695 xref: SNOMEDCT_US_2023_03_01:154700009 xref: UMLS_CUI:C0242343 is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:9411 name: obsolete gonococcal endocarditis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease synonym: "Gonococcal endocarditis (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9413 name: obsolete Congenital abnormalities of uterus complicating pregnancy, childbirth, or the puerperium is_obsolete: true [Term] id: DOID:9414 name: obsolete abnormality of organs and soft tissues of pelvis complicating pregnancy, childbirth, or the puerperium is_obsolete: true [Term] id: DOID:9415 name: allergic asthma alt_id: DOID:9416 alt_id: DOID:9417 def: "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness." [url:http\://www.aafa.org/display.cfm?id=8&sub=16, url:https\://www.ncbi.nlm.nih.gov/books/NBK526018/] synonym: "atopic asthma" RELATED [] synonym: "extrinsic asthma with acute exacerbation" EXACT [] synonym: "extrinsic asthma with status asthmaticus" EXACT [] xref: ICD10CM:J45 xref: ICD9CM:493.0 xref: SNOMEDCT_US_2023_03_01:195968006 xref: UMLS_CUI:C0155877 is_a: DOID:0060496 ! respiratory allergy is_a: DOID:0080811 ! extrinsic asthma [Term] id: DOID:9422 name: obsolete abscess of eyelid synonym: "abscess of eyelid (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:9423 name: blepharitis alt_id: DOID:13824 def: "An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow." [url:http\://en.wikipedia.org/wiki/Blepharitis] subset: NCIthesaurus xref: ICD10CM:H01.0 xref: ICD9CM:373.0 xref: ICD9CM:373.4 xref: MESH:D001762 xref: NCI:C112183 xref: SNOMEDCT_US_2023_03_01:193907001 xref: SNOMEDCT_US_2023_03_01:193920003 xref: UMLS_CUI:C0005741 xref: UMLS_CUI:C0155181 is_a: DOID:530 ! eyelid disease [Term] id: DOID:9426 name: obsolete tuberculous bronchiectasis def: "A pulmonary tuberculosis characterized by bronchial compression and obstruction as a result of enlarged lymph nodes of the primary complex or by infiltration of the wall of the bronchi by caseous lymph nodes." [] subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:9427 name: hypertensive encephalopathy subset: NCIthesaurus xref: ICD10CM:I67.4 xref: ICD9CM:437.2 xref: MESH:D020343 xref: NCI:C3503 xref: SNOMEDCT_US_2023_03_01:155408008 xref: UMLS_CUI:C0151620 is_a: DOID:9428 ! intracranial hypertension [Term] id: DOID:9428 name: intracranial hypertension def: "A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema." [url:https\://en.wikipedia.org/wiki/Brain_herniation, url:https\://en.wikipedia.org/wiki/Intracranial_pressure] subset: NCIthesaurus synonym: "Raised intracranial pressure" EXACT [] xref: MESH:D019586 xref: NCI:C84791 xref: SNOMEDCT_US_2023_03_01:155052007 xref: UMLS_CUI:C0151740 is_a: DOID:936 ! brain disease [Term] id: DOID:9432 name: renal glycosuria def: "A renal tubular transport disease characterized by decreased renal tubular resorption of glucose from the urine in the absence of hyperglycemia and other signs of tubular dysfunction." [url:https\://www.merckmanuals.com/professional/genitourinary-disorders/renal-transport-abnormalities/renal-glucosuria, url:https\://www.ncbi.nlm.nih.gov/books/NBK557441/] synonym: "renal diabetes" EXACT [] synonym: "renal glucosuria" EXACT [] xref: ICD9CM:271.4 xref: SNOMEDCT_US_2023_03_01:267430007 xref: UMLS_CUI:C0017980 is_a: DOID:447 ! renal tubular transport disease property_value: broadMatch "ICD10CM:E74.818" xsd:string property_value: exactMatch "ICD9CM:271.4" xsd:string property_value: exactMatch "SNOMEDCT_US_2023_03_01:267430007" xsd:string property_value: exactMatch "UMLS_CUI:C0017980" xsd:string [Term] id: DOID:9439 name: chronic cholangitis subset: NCIthesaurus xref: NCI:C35335 xref: SNOMEDCT_US_2023_03_01:71912000 xref: UMLS_CUI:C0267918 is_a: DOID:9446 ! cholangitis [Term] id: DOID:9442 name: cervical Mullerian papilloma def: "A cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasia, highly cellular fibrous tissue, no atypia, and minimal mitotic activity." [url:http\://www.pathologyoutlines.com/topic/cervixmesonephricpap.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/22935300\,] subset: NCIthesaurus synonym: "cervical Muellerian papilloma" EXACT [] xref: NCI:C40215 xref: UMLS_CUI:C1516427 is_a: DOID:0060110 ! cervical benign neoplasm [Term] id: DOID:9443 name: obsolete cervix blue nevus is_obsolete: true [Term] id: DOID:9445 name: cervix squamous papilloma def: "A cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium." [url:http\://www.pathologyoutlines.com/topic/cervixsquamouspapilloma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/13005077] subset: NCIthesaurus synonym: "squamous papilloma of the Cervix Uteri" EXACT [] xref: NCI:C6342 xref: UMLS_CUI:C1336900 is_a: DOID:0060110 ! cervical benign neoplasm is_a: DOID:2615 ! papilloma [Term] id: DOID:9446 name: cholangitis def: "A bile duct disease that is an inflammation of the bile duct." [url:http\://en.wikipedia.org/wiki/Cholangitis] subset: NCIthesaurus xref: ICD10CM:K83.0 xref: ICD9CM:576.1 xref: MESH:D002761 xref: NCI:C26718 xref: SNOMEDCT_US_2023_03_01:155831003 xref: UMLS_CUI:C0008311 is_a: DOID:4138 ! bile duct disease [Term] id: DOID:9450 name: obsolete infectious disease of the breast and nipple associated with childbirth alt_id: DOID:11281 alt_id: DOID:12523 alt_id: DOID:12963 alt_id: DOID:13600 alt_id: DOID:1437 alt_id: DOID:1438 alt_id: DOID:1879 alt_id: DOID:1880 is_obsolete: true [Term] id: DOID:9452 name: steatotic liver disease alt_id: DOID:9451 def: "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes." [url:https\://pubmed.ncbi.nlm.nih.gov/27099587/, url:https\://pubmed.ncbi.nlm.nih.gov/37364816/] comment: PRISM. subset: DO_FlyBase_slim synonym: "alcoholic fatty liver" EXACT [] synonym: "cryptogenic steatotic liver disease" NARROW [] synonym: "Fatty change of liver" EXACT [] synonym: "fatty liver disease" EXACT [] synonym: "hepatic lipidosis" EXACT [] synonym: "hepatic steatosis" EXACT [] synonym: "SLD" EXACT OMO:0003012 [] synonym: "Steatosis of liver" EXACT [] xref: ICD10CM:K70.0 xref: ICD9CM:571.0 xref: MESH:D005234 xref: MESH:D005235 xref: MIM:228100 xref: SNOMEDCT_US_2023_03_01:371330000 xref: SNOMEDCT_US_2023_03_01:50325005 xref: UMLS_CUI:C0015695 xref: UMLS_CUI:C0015696 is_a: DOID:409 ! liver disease is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:9455 name: lipid storage disease alt_id: DOID:10583 def: "A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues." [url:http\://en.wikipedia.org/wiki/Lipidoses] synonym: "inborn lipid storage disorder" EXACT [] synonym: "Lipoid storage diseas" EXACT [] synonym: "lipoidosis" EXACT [] xref: ICD10CM:E75.6 xref: ICD9CM:272.7 xref: ICD9CM:272.8 xref: MESH:D008064 xref: SNOMEDCT_US_2023_03_01:11455007 xref: SNOMEDCT_US_2023_03_01:154744007 xref: UMLS_CUI:C0023794 xref: UMLS_CUI:C0029591 is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:9459 name: isthmus cancer xref: ICD9CM:182.1 xref: UMLS_CUI:C0153575 is_a: DOID:9460 ! uterine corpus cancer [Term] id: DOID:946 name: dientamoebiasis alt_id: DOID:13792 def: "A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue." [url:http\://www.cdc.gov/ncidod/dpd/parasites/dientamoeba/factsht_dientamoeba.htm] subset: DO_infectious_disease_slim synonym: "intestinal trichomoniasis" EXACT [] xref: MESH:D004030 xref: UMLS_CUI:C0012147 is_a: DOID:2789 ! parasitic protozoa infectious disease [Term] id: DOID:9460 name: uterine corpus cancer def: "A uterine cancer that is located_in the uterine corpus." [url:http\://en.wikipedia.org/wiki/Uterine_cancer, url:http\://en.wikipedia.org/wiki/Uterus] subset: NCIthesaurus synonym: "corpus uteri cancer" EXACT [] xref: ICD10CM:C54 xref: ICD9CM:182 xref: NCI:C3556 xref: SNOMEDCT_US_2023_03_01:93718007 xref: UMLS_CUI:C0153574 is_a: DOID:363 ! uterine cancer [Term] id: DOID:9461 name: exposure keratitis synonym: "Exposure keratoconjunctivitis" EXACT [] synonym: "lagophthalmic keratitis" EXACT [] xref: ICD10CM:H16.21 xref: ICD9CM:370.34 xref: SNOMEDCT_US_2023_03_01:14366000 xref: UMLS_CUI:C0339295 is_a: DOID:9368 ! keratoconjunctivitis [Term] id: DOID:9462 name: cholesteatoma of external ear def: "A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/10993445, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/15763298] synonym: "external canal cholesteatoma" EXACT [] xref: ICD10CM:H60.4 xref: ICD9CM:380.21 xref: SNOMEDCT_US_2023_03_01:35247001 xref: UMLS_CUI:C0155398 is_a: DOID:379 ! external ear disease is_a: DOID:869 ! cholesteatoma [Term] id: DOID:9463 name: otitis externa alt_id: DOID:9785 def: "An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections." [url:http\://en.wikipedia.org/wiki/Otitis_externa] subset: NCIthesaurus synonym: "swimmer's ear" EXACT [] xref: ICD9CM:380.1 xref: NCI:C3299 xref: SNOMEDCT_US_2023_03_01:194198006 xref: UMLS_CUI:C0021355 is_a: DOID:379 ! external ear disease [Term] id: DOID:9467 name: nail-patella syndrome def: "A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15416035, url:https\://www.ncbi.nlm.nih.gov/pubmed/9590287] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Fong disease" EXACT [] synonym: "hereditary onychoostedysplasia" EXACT [] synonym: "iliac horn syndrome" EXACT [] synonym: "nail patella syndrome" EXACT [] synonym: "Turner-Kiser syndrome" EXACT [] xref: GARD:7160 xref: ICD10CM:Q87.2 xref: MEDDRA:10063431 xref: MESH:D009261 xref: MIM:161200 xref: NCI:C75120 xref: ORDO:2614 xref: SNOMEDCT_US_2023_03_01:22199006 xref: UMLS_CUI:C0027341 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:9468 name: obsolete Salmonella meningitis subset: gram-negative_bacterial_infectious_disease subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:9470 name: bacterial meningitis def: "A meningitis that has_material_basis_in a bacterial infection." [url:https\://en.wikipedia.org/wiki/Meningitis#Bacterial] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:5881 xref: ICD10CM:G00 xref: ICD9CM:320 xref: MESH:D016920 xref: NCI:C118297 xref: SNOMEDCT_US_2023_03_01:267680008 xref: UMLS_CUI:C0085437 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9471 ! meningitis [Term] id: DOID:9471 name: meningitis alt_id: DOID:9712 def: "A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells." [url:http\://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=mmed.section.5162] subset: GOLD subset: NCIthesaurus xref: ICD10CM:G03 xref: ICD9CM:322.9 xref: MESH:D008581 xref: NCI:C26828 xref: SNOMEDCT_US_2023_03_01:154983000 xref: UMLS_CUI:C0025289 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:9473 name: mononeuritis of lower limb xref: ICD9CM:355.8 xref: SNOMEDCT_US_2023_03_01:193154003 xref: UMLS_CUI:C0154747 is_a: DOID:1802 ! mononeuritis [Term] id: DOID:9476 name: Sheehan syndrome subset: DO_rare_slim subset: NCIthesaurus synonym: "Postpartum Hypopituitarism" EXACT [] synonym: "Sheehan's syndrome" EXACT [] xref: GARD:7630 xref: ICD10CM:E23.0 xref: MESH:D007018 xref: NCI:C35300 xref: SNOMEDCT_US_2023_03_01:15045007 xref: UMLS_CUI:C0242342 is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:9477 name: pulmonary embolism def: "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot." [url:http\://en.wikipedia.org/wiki/Pulmonary_embolism, url:http\://www.nlm.nih.gov/medlineplus/pulmonaryembolism.html] comment: PRISM. subset: NCIthesaurus synonym: "pulmonary artery embolism" EXACT [] synonym: "pulmonary embolus" EXACT [] xref: ICD10CM:I26 xref: MESH:D011655 xref: NCI:C50713 xref: SNOMEDCT_US_2023_03_01:194882001 xref: UMLS_CUI:C0034065 is_a: DOID:60001 ! pulmonary artery disease [Term] id: DOID:9478 name: postpartum depression def: "An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth." [url:http\://en.wikipedia.org/wiki/Mood_disorder] subset: NCIthesaurus synonym: "Maternity blues" EXACT [] synonym: "postnatal depression" EXACT [] xref: ICD10CM:F53.0 xref: MESH:D019052 xref: NCI:C92852 xref: SNOMEDCT_US_2023_03_01:58703003 xref: UMLS_CUI:C0221074 is_a: DOID:1595 ! melancholic depression [Term] id: DOID:9483 name: ulcerative blepharitis xref: ICD10CM:H01.01 xref: ICD9CM:373.01 xref: SNOMEDCT_US_2023_03_01:91662004 xref: UMLS_CUI:C0155173 is_a: DOID:9423 ! blepharitis [Term] id: DOID:9487 name: Meckel's diverticulum def: "A physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum." [url:https\://en.wikipedia.org/wiki/Meckel's_diverticulum] comment: OMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Meckel Diverticulum" EXACT [] synonym: "Persistent vitelline duct" EXACT [] xref: ICD10CM:Q43.0 xref: ICD9CM:751.0 xref: MESH:D008467 xref: MIM:155140 xref: NCI:C12264 xref: SNOMEDCT_US_2023_03_01:37373007 xref: UMLS_CUI:C0025037 is_a: DOID:0080015 ! physical disorder [Term] id: DOID:949 name: chronic dacryoadenitis xref: ICD10CM:H04.02 xref: ICD9CM:375.02 xref: SNOMEDCT_US_2023_03_01:4760008 xref: UMLS_CUI:C0155224 is_a: DOID:950 ! dacryoadenitis [Term] id: DOID:9496 name: unilateral hypoactive labyrinth xref: ICD9CM:386.53 xref: SNOMEDCT_US_2023_03_01:81585005 xref: UMLS_CUI:C0155517 is_a: DOID:566 ! labyrinthine dysfunction [Term] id: DOID:9498 name: pulmonary eosinophilia def: "A hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs." [url:https\://rarediseases.org/rare-diseases/simple-pulmonary-eosinophilia/] xref: ICD9CM:518.3 xref: MESH:D011657 xref: SNOMEDCT_US_2023_03_01:196145005 xref: UMLS_CUI:C0034068 is_a: DOID:999 ! hypereosinophilic syndrome [Term] id: DOID:9499 name: disseminated eosinophilic collagen disease xref: SNOMEDCT_US_2023_03_01:423486005 xref: UMLS_CUI:C0263662 is_a: DOID:854 ! collagen disease is_a: DOID:999 ! hypereosinophilic syndrome [Term] id: DOID:950 name: dacryoadenitis subset: NCIthesaurus xref: ICD10CM:H04.0 xref: ICD9CM:375.0 xref: MESH:D003607 xref: NCI:C26971 xref: SNOMEDCT_US_2023_03_01:86927009 xref: UMLS_CUI:C0155223 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:9500 name: leukocyte disease def: "A hematopoietic system disease that is located_in white blood cells." [url:https\://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/] xref: ICD10CM:D72.9 xref: ICD9CM:288 xref: MESH:D007960 xref: SNOMEDCT_US_2023_03_01:191369001 xref: UMLS_CUI:C0023510 is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:9502 name: chronic eosinophilic pneumonia def: "An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease." [url:http\://www.merck.com/mmhe/print/sec04/ch051/ch051c.html, url:http\://www.merck.com/mmpe/sec05/ch055/ch055d.html#sec05-ch055-ch055d-849] subset: DO_rare_slim subset: NCIthesaurus synonym: "Cryptogenic pulmonary eosinophilia" EXACT [] xref: GARD:1130 xref: GARD:2134 xref: ICD10CM:J82.81 xref: NCI:C34471 xref: SNOMEDCT_US_2023_03_01:233692000 xref: UMLS_CUI:C0008680 is_a: DOID:5870 ! eosinophilic pneumonia [Term] id: DOID:9503 name: Loeffler syndrome def: "An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection." [url:http\://en.wikipedia.org/wiki/L%C3%B6ffler%27s_syndrome, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Loeffler%27s%20syndrome] subset: NCIthesaurus synonym: "Loeffler's pneumonia" EXACT [] synonym: "Loffler's syndrome" EXACT [] xref: ICD10CM:J82.89 xref: MESH:D011657 xref: NCI:C35301 xref: SNOMEDCT_US_2023_03_01:64936001 xref: UMLS_CUI:C0242459 is_a: DOID:1205 ! allergic disease is_a: DOID:5870 ! eosinophilic pneumonia [Term] id: DOID:9504 name: benign mammary dysplasia def: "A breast benign neoplasm that encompasses a range of conditions in which there is marked change in the breast tissue." [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/mammary-dysplasia] xref: ICD9CM:610.8 xref: UMLS_CUI:C0156319 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:9505 name: cannabis abuse alt_id: DOID:2525 def: "A substance abuse that involves the recurring use of cannabis despite negative consequences." [url:http\://en.wikipedia.org/wiki/Cannabis_%28drug%29] synonym: "marijuana abuse" EXACT [] xref: ICD10CM:F12 xref: ICD10CM:F12.1 xref: ICD9CM:305.2 xref: MESH:D002189 xref: SNOMEDCT_US_2023_03_01:268769003 xref: SNOMEDCT_US_2023_03_01:37344009 xref: UMLS_CUI:C0006868 xref: UMLS_CUI:C0024809 is_a: DOID:302 ! substance abuse [Term] id: DOID:9506 name: acute ethmoiditis def: "A ethmoid sinusitis which lasts for less than 4 weeks." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html] synonym: "acute ethmoid sinusitis" EXACT [] synonym: "acute ethmoidal sinusitis" EXACT [] synonym: "ethmoidal sinus - acute" EXACT [] xref: ICD10CM:J01.2 xref: ICD9CM:461.2 xref: SNOMEDCT_US_2023_03_01:67832005 xref: UMLS_CUI:C0155806 is_a: DOID:9507 ! ethmoid sinusitis [Term] id: DOID:9507 name: ethmoid sinusitis def: "A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead." [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html] subset: NCIthesaurus synonym: "ethmoidal sinusitis" EXACT [] synonym: "ethmoiditis" EXACT [] xref: ICD10CM:J32.2 xref: MESH:D015521 xref: NCI:C34597 xref: SNOMEDCT_US_2023_03_01:18643000 xref: UMLS_CUI:C0015029 is_a: DOID:0050127 ! sinusitis [Term] id: DOID:951 name: obsolete toxic myopathy synonym: "Toxic muscle disease" EXACT [] is_obsolete: true [Term] id: DOID:9512 name: simple chronic conjunctivitis xref: ICD10CM:H10.42 xref: ICD9CM:372.11 xref: SNOMEDCT_US_2023_03_01:193866007 xref: UMLS_CUI:C0155146 is_a: DOID:2475 ! chronic conjunctivitis [Term] id: DOID:9513 name: plasma cell leukemia def: "A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count." [url:https\://en.wikipedia.org/wiki/Plasma_cell_leukemia, url:https\://rarediseases.info.nih.gov/diseases/9373/index, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349791/] subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "plasma cell leukaemia" EXACT [] synonym: "plasmacytic leukaemia" EXACT [] synonym: "plasmacytic leukemia" EXACT [] xref: GARD:9373 xref: ICD10CM:C90.1 xref: ICD9CM:203.1 xref: ICDO:9733/3 xref: MESH:D007952 xref: NCI:C3180 xref: SNOMEDCT_US_2023_03_01:269630009 xref: UMLS_CUI:C0023484 is_a: DOID:6536 ! plasma cell neoplasm [Term] id: DOID:9514 name: obsolete multiple myeloma and immunoproliferative neoplasm is_obsolete: true [Term] id: DOID:9518 name: obsolete abortion complicated by renal failure is_obsolete: true [Term] id: DOID:952 name: acute dacryoadenitis xref: ICD10CM:H04.01 xref: ICD9CM:375.01 xref: SNOMEDCT_US_2023_03_01:2589008 xref: UMLS_CUI:C0149505 is_a: DOID:950 ! dacryoadenitis [Term] id: DOID:9521 name: Laron syndrome def: "A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12." [url:https\://ghr.nlm.nih.gov/condition/laron-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/8488849] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Laron-type isolated somatotropin defect" EXACT [] xref: GARD:6859 xref: ICD10CM:E34.321 xref: MESH:D046150 xref: MIM:262500 xref: NCI:C130994 xref: ORDO:633 xref: SNOMEDCT_US_2023_03_01:38196001 xref: UMLS_CUI:C0271568 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:9528 name: obsolete acute renal failure with lesion of renal medullary necrosis is_obsolete: true [Term] id: DOID:9530 name: obsolete Rhesus isoimmunisation affecting management of mother is_obsolete: true [Term] id: DOID:9531 name: latent syphilis alt_id: DOID:12912 alt_id: DOID:12913 alt_id: DOID:9492 def: "A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease." [url:http\://en.wikipedia.org/wiki/Syphilis#Latent_syphilis] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: sexually_transmitted_infectious_disease xref: ICD10CM:A53.0 xref: ICD9CM:097.1 xref: MESH:D013592 xref: NCI:C35056 xref: SNOMEDCT_US_2023_03_01:444150000 xref: UMLS_CUI:C0039133 is_a: DOID:4166 ! syphilis [Term] id: DOID:9534 name: tuberculous pneumothorax def: "A pneumothorax in which air enters into the pleural cavity." [url:http\://books.google.com/books?id=9QcpAAAAYAAJ&pg=PA492&lpg#v=onepage&q=&f=false] subset: gram-positive_bacterial_infectious_disease xref: ICD10CM:A15.0 xref: ICD9CM:011.7 xref: SNOMEDCT_US_2023_03_01:29731002 xref: UMLS_CUI:C0152600 is_a: DOID:1673 ! pneumothorax [Term] id: DOID:9535 name: obsolete Arenavirus hemorrhagic fever alt_id: DOID:4185 def: "A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." [url:http\://en.wikipedia.org/wiki/Hemorrhagic_fever, url:http\://jama.ama-assn.org/cgi/reprint/287/18/2391] synonym: "american hemorrhagic fever" EXACT [] synonym: "arenaviral hemorrhagic fever" EXACT [] is_obsolete: true [Term] id: DOID:9537 name: Lassa fever def: "A viral infectious disease that results_in infection, has_material_basis_in Mammarenavirus lassaense, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding." [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lassaf.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus subset: zoonotic_infectious_disease xref: ICD10CM:A96.2 xref: MESH:D007835 xref: NCI:C128418 xref: SNOMEDCT_US_2023_03_01:19065005 xref: UMLS_CUI:C0023092 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9538 name: multiple myeloma def: "A myeloid neoplasm that is located_in the plasma cells in bone marrow." [url:http\://en.wikipedia.org/wiki/Multiple_myeloma, url:http\://www.cancer.gov/dictionary?CdrID=411384] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "myeloma" EXACT [] xref: EFO:0001378 xref: GARD:7108 xref: ICD10CM:C90.0 xref: ICD9CM:203.0 xref: MESH:D009101 xref: MIM:254500 xref: NCI:C3242 xref: ORDO:29073 xref: SNOMEDCT_US_2023_03_01:94705007 xref: UMLS_CUI:C0026764 is_a: DOID:0070004 ! myeloid neoplasm is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9540 name: vascular skin disease subset: NCIthesaurus xref: ICD9CM:709.1 xref: MESH:D017445 xref: NCI:C35254 xref: SNOMEDCT_US_2023_03_01:11263005 xref: UMLS_CUI:C0162819 is_a: DOID:37 ! skin disease [Term] id: DOID:9541 name: osteosclerotic myeloma xref: SNOMEDCT_US_2023_03_01:42215000 xref: UMLS_CUI:C1510415 is_a: DOID:9538 ! multiple myeloma [Term] id: DOID:9543 name: obsolete plasma cell myeloma PTLD is_obsolete: true [Term] id: DOID:9544 name: refractory plasma cell neoplasm subset: NCIthesaurus xref: NCI:C7813 xref: UMLS_CUI:C0278620 is_a: DOID:712 ! refractory hematologic cancer is_a: DOID:9538 ! multiple myeloma [Term] id: DOID:9545 name: obsolete recurrent plasma cell neoplasm is_obsolete: true [Term] id: DOID:9547 name: non-secretory myeloma xref: SNOMEDCT_US_2023_03_01:277580004 xref: UMLS_CUI:C0456845 is_a: DOID:9538 ! multiple myeloma [Term] id: DOID:955 name: obsolete benign neurilemmoma comment: Duplicate disease (UMLS). xref: UMLS_CUI:C0854906 is_obsolete: true replaced_by: DOID:3192 [Term] id: DOID:9550 name: indolent plasma cell myeloma def: "A multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm." [url:https\://seer.cancer.gov/seertools/hemelymph/51f6cf5ae3e27c3994bd54aa/] subset: NCIthesaurus synonym: "indolent myeloma" EXACT [] xref: NCI:C7150 xref: SNOMEDCT_US_2023_03_01:441313008 xref: UMLS_CUI:C2049069 is_a: DOID:9538 ! multiple myeloma [Term] id: DOID:9551 name: smoldering myeloma def: "A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody." [url:http\://www.cancer.gov/dictionary/?CdrID=413932] is_a: DOID:9538 ! multiple myeloma [Term] id: DOID:9552 name: obsolete adrenal gland hypofunction is_obsolete: true [Term] id: DOID:9553 name: adrenal gland disease def: "An endocrine system disease that is located_in the adrenal gland." [url:http\://en.wikipedia.org/wiki/Adrenal_gland_disease] subset: NCIthesaurus xref: ICD10CM:E27.9 xref: ICD9CM:255.9 xref: MESH:D000307 xref: NCI:C26690 xref: SNOMEDCT_US_2023_03_01:30171000 xref: UMLS_CUI:C0001621 is_a: DOID:28 ! endocrine system disease [Term] id: DOID:956 name: peripheral nerve schwannoma subset: NCIthesaurus xref: NCI:C41430 xref: UMLS_CUI:C1519001 is_a: DOID:3192 ! neurilemmoma [Term] id: DOID:9561 name: nasopharyngeal disease subset: NCIthesaurus xref: MESH:D009302 xref: NCI:C35723 xref: SNOMEDCT_US_2023_03_01:123952009 xref: UMLS_CUI:C0027438 is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:9562 name: primary ciliary dyskinesia alt_id: DOID:2925 def: "A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube." [url:http\://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "ciliary motility disorder" EXACT [] synonym: "immotile ciliary syndrome" EXACT [] xref: GARD:4484 xref: MESH:D002925 xref: MIM:PS244400 xref: NCI:C84638 xref: ORDO:244 xref: SNOMEDCT_US_2023_03_01:86204009 xref: UMLS_CUI:C0008780 is_a: DOID:0060340 ! ciliopathy [Term] id: DOID:9563 name: bronchiectasis alt_id: DOID:11046 alt_id: DOID:11047 alt_id: DOID:9571 def: "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances." [url:http\://www.merck.com/mmhe/sec04/ch047/ch047a.html, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiectasis] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Polynesian bronchiectasis" EXACT [] xref: ICD10CM:J47 xref: ICD9CM:494 xref: MESH:D001987 xref: MIM:211400 xref: MIM:613021 xref: MIM:613071 xref: MIM:PS211400 xref: NCI:C84475 xref: ORDO:60033 xref: SNOMEDCT_US_2023_03_01:155580000 xref: UMLS_CUI:C0006267 is_a: DOID:1176 ! bronchial disease [Term] id: DOID:9565 name: dextrocardia subset: DO_rare_slim subset: NCIthesaurus synonym: "Heart predominantly in right hemithorax" EXACT [] xref: GARD:1827 xref: ICD10CM:Q24.0 xref: MESH:D003914 xref: NCI:C84669 xref: SNOMEDCT_US_2023_03_01:27637000 xref: UMLS_CUI:C0011813 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9574 name: choanal atresia alt_id: DOID:14713 comment: OMIM mapping confirmed by DO. [SN]. synonym: "Atresia of nares" EXACT [] synonym: "Imperforate nares" EXACT [] synonym: "posterior choanal atresia" EXACT [] xref: ICD10CM:Q30.0 xref: ICD9CM:748.0 xref: MESH:C562435 xref: MESH:D002754 xref: MIM:608911 xref: SNOMEDCT_US_2023_03_01:156934002 xref: UMLS_CUI:C0008297 xref: UMLS_CUI:C0220723 is_a: DOID:2163 ! nasal cavity disease [Term] id: DOID:9577 name: neonatal candidiasis def: "A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates." [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "neonatal candida infection" EXACT [] synonym: "Neonatal monilia infection" EXACT [] synonym: "neonatal moniliasis" EXACT [] xref: ICD10CM:P37.5 xref: ICD9CM:771.7 xref: NCI:C116810 xref: SNOMEDCT_US_2023_03_01:3973009 xref: UMLS_CUI:C0276682 is_a: DOID:1508 ! candidiasis [Term] id: DOID:9579 name: obsolete Pseudomonas septicemia subset: GOLD subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:9584 name: Venezuelan equine encephalitis def: "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region." [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "Venezuelan equine fever" RELATED [] xref: GARD:6355 xref: ICD10CM:A92.2 xref: ICD9CM:066.2 xref: MESH:D004685 xref: NCI:C35121 xref: SNOMEDCT_US_2023_03_01:89990001 xref: UMLS_CUI:C0014078 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9585 name: obsolete equine encephalitis def: "An Alphavirus infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, has_material_basis_in Venezuelan equine encephalitis virus, or has_material_basis_in Western equine encephalomyelitis virus, which are transmitted_by moquito bite. The infection has_symptom fever, has_symptom headache, and has_symptom malaise." [url:http\://www.state.nj.us/agriculture/divisions/ah/diseases/equine_encephalomyelitis.html] subset: zoonotic_infectious_disease is_obsolete: true [Term] id: DOID:9588 name: encephalitis alt_id: DOID:2160 def: "A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms." [url:http\://en.wikipedia.org/wiki/Encephalitis, url:http\://www.mayoclinic.org/diseases-conditions/encephalitis/basics/definition/con-20021917, url:http\://www.nlm.nih.gov/medlineplus/encephalitis.html] subset: NCIthesaurus xref: MESH:D004660 xref: NCI:C26760 xref: SNOMEDCT_US_2023_03_01:267682000 xref: UMLS_CUI:C0014038 is_a: DOID:936 ! brain disease [Term] id: DOID:9589 name: urethral calculus subset: NCIthesaurus synonym: "urethral Stone" EXACT [] xref: ICD10CM:N21.1 xref: ICD9CM:594.2 xref: NCI:C26995 xref: SNOMEDCT_US_2023_03_01:20342001 xref: UMLS_CUI:C0162301 is_a: DOID:732 ! urethral disease is_a: DOID:9590 ! lower urinary tract calculus [Term] id: DOID:959 name: esophagus squamous cell papilloma subset: NCIthesaurus xref: NCI:C5344 xref: SNOMEDCT_US_2023_03_01:1197270001 xref: UMLS_CUI:C1333467 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:6050 ! esophageal disease [Term] id: DOID:9590 name: lower urinary tract calculus def: "A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone." [url:http\://en.wikipedia.org/wiki/Calculus_%28medicine%29] xref: ICD10CM:N21 xref: ICD9CM:594 xref: SNOMEDCT_US_2023_03_01:79509009 xref: UMLS_CUI:C0156264 is_a: DOID:18 ! urinary system disease [Term] id: DOID:9594 name: obsolete ovarian metastasis synonym: "metastasis to ovary" EXACT [] is_obsolete: true [Term] id: DOID:9597 name: Krukenberg carcinoma def: "An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue." [url:https\://en.wikipedia.org/wiki/Krukenberg_tumor, url:https\://www.ncbi.nlm.nih.gov/books/NBK482284/, url:https\://www.ncbi.nlm.nih.gov/pubmed/29113663, url:https\://www.ncbi.nlm.nih.gov/pubmed/29489206] subset: DO_rare_slim subset: NCIthesaurus synonym: "Krukenberg neoplasm" EXACT [] synonym: "Krukenberg tumor" RELATED [] xref: GARD:8627 xref: MESH:D007725 xref: NCI:C3153 xref: SNOMEDCT_US_2023_03_01:4305004 xref: UMLS_CUI:C0022790 is_a: DOID:2152 ! ovary epithelial cancer [Term] id: DOID:9598 name: fasciitis def: "A connective tissue disease characterized by inflammation located in the fascia." [url:https\://en.wikipedia.org/wiki/Fasciitis, url:https\://www.mayoclinic.org/diseases-conditions/plantar-fasciitis/symptoms-causes/syc-20354846] subset: NCIthesaurus xref: ICD10CM:M72.9 xref: ICD9CM:729.4 xref: MESH:D005208 xref: NCI:C50559 xref: SNOMEDCT_US_2023_03_01:36948007 xref: UMLS_CUI:C0015645 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:9599 name: proliferative fasciitis subset: NCIthesaurus xref: NCI:C4728 xref: SNOMEDCT_US_2023_03_01:35548007 xref: UMLS_CUI:C0432528 is_a: DOID:9598 ! fasciitis [Term] id: DOID:96 name: staphyloenterotoxemia def: "A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness." [url:https\://pubmed.ncbi.nlm.nih.gov/22091892/] subset: DO_infectious_disease_slim subset: GOLD subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "Staphylococcal food poisoning" EXACT [] synonym: "Staphylococcal toxaemia due to food" EXACT [] synonym: "staphyloenterotoxicosis" EXACT [] xref: ICD10CM:A05.0 xref: ICD9CM:005.0 xref: MESH:D013202 xref: NCI:C35037 xref: SNOMEDCT_US_2023_03_01:84622004 xref: UMLS_CUI:C0038159 is_a: DOID:0050338 ! primary bacterial infectious disease [Term] id: DOID:960 name: esophagus leiomyoma subset: NCIthesaurus xref: NCI:C3866 xref: SNOMEDCT_US_2023_03_01:276805005 xref: UMLS_CUI:C0238114 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:6050 ! esophageal disease [Term] id: DOID:9600 name: plantar fasciitis xref: ICD10CM:M72.2 xref: MESH:D036981 xref: SNOMEDCT_US_2023_03_01:203056001 xref: UMLS_CUI:C0149756 is_a: DOID:9598 ! fasciitis [Term] id: DOID:9601 name: ischemic fasciitis subset: NCIthesaurus synonym: "Atypical Decubital Fibroplasia" EXACT [] xref: NCI:C6483 xref: SNOMEDCT_US_2023_03_01:403990005 xref: UMLS_CUI:C1304514 is_a: DOID:9598 ! fasciitis [Term] id: DOID:9602 name: necrotizing fasciitis subset: DO_rare_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus xref: GARD:6454 xref: ICD10CM:M72.6 xref: ICD9CM:728.86 xref: MESH:D019115 xref: NCI:C84916 xref: SNOMEDCT_US_2023_03_01:186428007 xref: UMLS_CUI:C0238124 is_a: DOID:9598 ! fasciitis [Term] id: DOID:9603 name: intravascular fasciitis subset: NCIthesaurus synonym: "Intravascular Pseudosarcomatous Fasciitis" EXACT [] xref: NCI:C4729 xref: SNOMEDCT_US_2023_03_01:254738007 xref: UMLS_CUI:C0432529 is_a: DOID:7327 ! pseudosarcomatous fibromatosis [Term] id: DOID:961 name: neurofibroma of the esophagus subset: NCIthesaurus xref: NCI:C5704 xref: UMLS_CUI:C1333463 is_a: DOID:5041 ! esophageal cancer is_a: DOID:962 ! neurofibroma [Term] id: DOID:9617 name: orthostatic proteinuria synonym: "Postural albuminuria" EXACT [] xref: ICD10CM:R80.2 xref: ICD9CM:593.6 xref: SNOMEDCT_US_2023_03_01:155874000 xref: UMLS_CUI:C0232867 is_a: DOID:557 ! kidney disease [Term] id: DOID:962 name: neurofibroma subset: DO_cancer_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7191 xref: ICDO:9540/0 xref: MESH:D009455 xref: NCI:C3272 xref: SNOMEDCT_US_2023_03_01:404029005 xref: UMLS_CUI:C0027830 is_a: DOID:3193 ! peripheral nerve sheath neoplasm [Term] id: DOID:9620 name: vesicoureteral reflux def: "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." [url:http\://en.wikipedia.org/wiki/Vesicoureteral_reflux, url:http\://ghr.nlm.nih.gov/glossary=vesicoureteralreflux, url:http\://www.mayoclinic.org/diseases-conditions/vesicoureteral-reflux/basics/definition/con-20031544?_ga=1.233953949.2017809229.1415219956] comment: Xref MGI.\nOMIM mapping confirmed by DO. [LS]. subset: DO_rare_slim subset: NCIthesaurus synonym: "vesico-ureteral reflux" EXACT [] xref: ICD10CM:N13.7 xref: ICD9CM:593.7 xref: MESH:D014718 xref: MIM:193000 xref: MIM:314550 xref: MIM:610878 xref: MIM:613674 xref: MIM:614317 xref: MIM:614318 xref: MIM:614319 xref: MIM:614674 xref: MIM:615390 xref: MIM:615963 xref: NCI:C84467 xref: ORDO:289365 xref: SNOMEDCT_US_2023_03_01:197811007 xref: UMLS_CUI:C0042580 is_a: DOID:1426 ! ureteral disease [Term] id: DOID:9621 name: non-congenital cyst of kidney xref: ICD10CM:N28.1 xref: ICD9CM:593.2 xref: SNOMEDCT_US_2023_03_01:105999006 xref: UMLS_CUI:C0268799 is_a: DOID:0080015 ! physical disorder is_a: DOID:2975 ! cystic kidney disease [Term] id: DOID:9622 name: kidney hypertrophy subset: NCIthesaurus xref: ICD10CM:N28.81 xref: ICD9CM:593.1 xref: NCI:C122991 xref: SNOMEDCT_US_2023_03_01:197800004 xref: UMLS_CUI:C0156259 is_a: DOID:557 ! kidney disease [Term] id: DOID:963 name: episodic ataxia def: "A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement." [url:http\://en.wikipedia.org/wiki/Episodic_ataxia, url:http\://ghr.nlm.nih.gov/condition/episodic-ataxia] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN].\nUpdated outdated UMLS CUI. subset: DO_rare_slim synonym: "Isaacs syndrome" EXACT [] xref: GARD:9851 xref: MESH:C580065 xref: ORDO:211062 xref: SNOMEDCT_US_2023_03_01:421455009 xref: UMLS_CUI:C1720189 is_a: DOID:0050951 ! hereditary ataxia [Term] id: DOID:9630 name: obsolete genetic anomaly of leucocyte is_obsolete: true [Term] id: DOID:9631 name: Pelger-Huet anomaly def: "A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12118250] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:9148 xref: MESH:D010381 xref: MIM:169400 xref: NCI:C85002 xref: SNOMEDCT_US_2023_03_01:85559002 xref: UMLS_CUI:C0030779 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:9637 name: stomatitis def: "A mouth disease that is characterized by inflammation of the mouth and lips." [url:https\://en.wikipedia.org/wiki/Stomatitis] subset: DO_RAD_slim subset: NCIthesaurus xref: ICD10CM:K12.1 xref: MESH:D013280 xref: NCI:C26887 xref: SNOMEDCT_US_2023_03_01:95361005 xref: UMLS_CUI:C0038362 is_a: DOID:9297 ! lip disease [Term] id: DOID:9640 name: sarcocystosis def: "A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy." [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/sarcocystosis.pdf, url:http\://www.dpd.cdc.gov/DPDx/HTML/Sarcocystosis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim synonym: "Sarcosporidiosis" EXACT [] xref: ICD10CM:A07.8 xref: ICD9CM:136.5 xref: MESH:D012523 xref: ORDO:54368 xref: SNOMEDCT_US_2023_03_01:88905005 xref: UMLS_CUI:C0036231 is_a: DOID:2113 ! coccidiosis [Term] id: DOID:9642 name: obsolete rheumatic chorea alt_id: DOID:9641 alt_id: DOID:9813 subset: gram-positive_bacterial_infectious_disease synonym: "chorea minor" EXACT [] synonym: "Sydenham's chorea" EXACT [] is_obsolete: true [Term] id: DOID:9643 name: babesiosis def: "A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease." [url:http\://en.wikipedia.org/wiki/Babesiosis] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus subset: tick-borne_infectious_disease subset: zoonotic_infectious_disease synonym: "Babesiasis" EXACT [] synonym: "Infection by babesia" EXACT [] synonym: "piroplasmosis" EXACT [] xref: GARD:5878 xref: ICD10CM:B60.0 xref: ICD9CM:088.82 xref: MESH:D001404 xref: NCI:C84581 xref: SNOMEDCT_US_2023_03_01:187241002 xref: UMLS_CUI:C0004576 is_a: DOID:2789 ! parasitic protozoa infectious disease [Term] id: DOID:9647 name: obsolete obstructed labor alt_id: DOID:1298 alt_id: DOID:1299 alt_id: DOID:1300 is_obsolete: true [Term] id: DOID:9649 name: congenital nystagmus def: "A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction." [url:http\://en.wikipedia.org/wiki/Nystagmus, url:http\://ghr.nlm.nih.gov/glossary=nystagmus, url:http\://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/approach_to_the_patient_with_ear_problems/evaluation_of_ear_disorders.html#v942669] comment: Xref MGI. subset: DO_rare_slim xref: ICD10CM:H55.01 xref: ICD9CM:379.51 xref: MESH:D020417 xref: MIM:PS310700 xref: ORDO:651 xref: SNOMEDCT_US_2023_03_01:155205009 xref: UMLS_CUI:C0700501 is_a: DOID:0080015 ! physical disorder is_a: DOID:9650 ! pathologic nystagmus [Term] id: DOID:9650 name: pathologic nystagmus subset: NCIthesaurus xref: ICD10CM:H55.0 xref: ICD9CM:379.50 xref: MESH:D009759 xref: NCI:C3282 xref: SNOMEDCT_US_2023_03_01:194171007 xref: UMLS_CUI:C0028738 is_a: DOID:1279 ! ocular motility disease [Term] id: DOID:9651 name: systolic heart failure xref: ICD10CM:I50.20 xref: ICD9CM:428.2 xref: MESH:D054143 xref: SNOMEDCT_US_2023_03_01:417996009 xref: UMLS_CUI:C1135191 is_a: DOID:6000 ! congestive heart failure [Term] id: DOID:9653 name: obsolete Pre-eclampsia or eclampsia superimposed on pre-existing hypertension alt_id: DOID:10855 alt_id: DOID:14078 alt_id: DOID:9652 is_obsolete: true [Term] id: DOID:9654 name: obsolete hypertension complicating pregnancy, childbirth and the puerperium alt_id: DOID:13703 alt_id: DOID:9844 alt_id: DOID:9845 is_obsolete: true [Term] id: DOID:9655 name: oral mucosa leukoplakia def: "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking." [url:https\://www.ncbi.nlm.nih.gov/books/NBK442013/] xref: ICD10CM:K13.21 xref: ICD9CM:528.6 xref: UMLS_CUI:C1112530 is_a: DOID:403 ! mouth disease [Term] id: DOID:9663 name: aphthous stomatitis def: "A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers." [url:http\://en.wikipedia.org/wiki/Aphthous_stomatitis] subset: DO_rare_slim subset: NCIthesaurus synonym: "Aphtha" EXACT [] synonym: "Aphthous ulceration" EXACT [] synonym: "Canker sore" EXACT [] synonym: "Oral aphthae" EXACT [] synonym: "Oral aphthous ulcer" RELATED [] synonym: "oral ulcer" EXACT [] xref: GARD:5834 xref: ICD9CM:528.2 xref: MESH:D013281 xref: NCI:C62546 xref: SNOMEDCT_US_2023_03_01:398870000 xref: UMLS_CUI:C0038363 is_a: DOID:9637 ! stomatitis [Term] id: DOID:9667 name: placental abruption alt_id: DOID:12976 alt_id: DOID:12977 alt_id: DOID:13233 alt_id: DOID:13234 alt_id: DOID:13587 alt_id: DOID:13627 alt_id: DOID:14406 alt_id: DOID:9666 def: "A placenta disease that is characterized by separation of the placental lining from the uterus of the mother." [url:http\://en.wikipedia.org/wiki/Abruptio_placentae] comment: PRISM. subset: NCIthesaurus synonym: "abruptio placenta" EXACT [] synonym: "abruptio placentae" EXACT [] xref: ICD10CM:O20.0 xref: ICD9CM:640.0 xref: MESH:D000033 xref: NCI:C112857 xref: SNOMEDCT_US_2023_03_01:54048003 xref: UMLS_CUI:C0000821 is_a: DOID:780 ! placenta disease [Term] id: DOID:9669 name: senile cataract def: "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging." [url:https\://eyewiki.aao.org/Cataract] subset: NCIthesaurus xref: ICD10CM:H25 xref: ICD9CM:366.1 xref: NCI:C35012 xref: SNOMEDCT_US_2023_03_01:39450006 xref: UMLS_CUI:C0036646 is_a: DOID:83 ! cataract [Term] id: DOID:9672 name: noma subset: DO_rare_slim subset: NCIthesaurus synonym: "Cancrum oris" EXACT [] synonym: "Gangrenous stomatitis" EXACT [] xref: GARD:4001 xref: ICD10CM:A69.0 xref: ICD9CM:528.1 xref: MESH:D009625 xref: NCI:C34852 xref: SNOMEDCT_US_2023_03_01:196528007 xref: UMLS_CUI:C0028271 is_a: DOID:9673 ! ulcerative stomatitis [Term] id: DOID:9673 name: ulcerative stomatitis subset: NCIthesaurus xref: ICD10CM:K12.1 xref: MESH:D005892 xref: NCI:C35039 xref: SNOMEDCT_US_2023_03_01:450005 xref: UMLS_CUI:C0038367 is_a: DOID:9637 ! stomatitis [Term] id: DOID:9675 name: pulmonary emphysema def: "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls." [url:https\://my.clevelandclinic.org/health/diseases/9370-emphysema, url:https\://www.cedars-sinai.org/health-library/diseases-and-conditions/p/pulmonary-emphysema.html, url:https\://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=85&contentid=p01309] xref: ICD10CM:J43.8 xref: ICD9CM:492.8 xref: MIM:130700 xref: SNOMEDCT_US_2023_03_01:195962007 xref: UMLS_CUI:C0029607 is_a: DOID:3083 ! chronic obstructive pulmonary disease property_value: exactMatch "MESH:D011656" xsd:string [Term] id: DOID:9678 name: obsolete cervical incompetence complicating pregnancy, childbirth, or the puerperium is_obsolete: true [Term] id: DOID:9681 name: cervical incompetence def: "A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term." [url:http\://en.wikipedia.org/wiki/Cervical_incompetence] subset: NCIthesaurus xref: ICD10CM:N88.3 xref: ICD9CM:622.5 xref: MESH:D002581 xref: NCI:C50607 xref: SNOMEDCT_US_2023_03_01:36836005 xref: UMLS_CUI:C0007871 is_a: DOID:2253 ! cervix disease [Term] id: DOID:9682 name: yellow fever alt_id: DOID:9683 alt_id: DOID:9684 def: "A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus, which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood." [url:http\://en.wikipedia.org/wiki/Yellow_fever, url:http\://www.who.int/mediacentre/factsheets/fs100/en/index.html, url:https\://www.cdc.gov/yellowfever/] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus subset: zoonotic_infectious_disease synonym: "jungle yellow fever" EXACT [] synonym: "Sylvatic yellow fever" EXACT [] synonym: "urban yellow fever" EXACT [] synonym: "Yellow fever, sylvan" EXACT [] xref: GARD:7914 xref: ICD10CM:A95 xref: ICD9CM:060 xref: MESH:D015004 xref: NCI:C35547 xref: SNOMEDCT_US_2023_03_01:154345006 xref: UMLS_CUI:C0043395 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9694 name: toxic myocarditis def: "An acute myocarditis that is characterized by an underlying toxin insult to the myocardium that induces acute inflammation." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27574633] xref: ICD9CM:422.93 xref: SNOMEDCT_US_2023_03_01:31993003 xref: UMLS_CUI:C0155691 is_a: DOID:3951 ! acute myocarditis [Term] id: DOID:9697 name: gonococcal keratitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease xref: ICD10CM:A54.33 xref: ICD9CM:098.43 xref: SNOMEDCT_US_2023_03_01:186924001 xref: UMLS_CUI:C0153214 is_a: DOID:4677 ! keratitis [Term] id: DOID:9698 name: gonococcal endophthalmia subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease xref: ICD10CM:A54.39 xref: ICD9CM:098.42 xref: SNOMEDCT_US_2023_03_01:186923007 xref: UMLS_CUI:C0153213 is_a: DOID:4692 ! endophthalmitis [Term] id: DOID:9699 name: ophthalmia neonatorum alt_id: DOID:10601 def: "A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge." [url:https\://en.wikipedia.org/wiki/Neonatal_conjunctivitis] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus synonym: "Gonococcal conjunctivitis" EXACT [] synonym: "Gonococcal ophthalmia neonatorum" EXACT [] synonym: "Neonatal conjunctivitis" EXACT [] xref: GARD:2546 xref: ICD10CM:P39.1 xref: ICD9CM:771.6 xref: NCI:C116815 xref: SNOMEDCT_US_2023_03_01:206345004 xref: SNOMEDCT_US_2023_03_01:80881003 xref: UMLS_CUI:C0027611 xref: UMLS_CUI:C0029076 is_a: DOID:9700 ! bacterial conjunctivitis [Term] id: DOID:970 name: tenosynovitis def: "An arthropathy that is characterized as an inflammation of the lining of the sheath that surrounds a tendon." [url:https\://medlineplus.gov/ency/article/001242.htm] synonym: "Inflammation of tendon sheath" EXACT [] xref: MESH:D013717 xref: SNOMEDCT_US_2023_03_01:240035004 xref: UMLS_CUI:C0039520 is_a: DOID:381 ! arthropathy is_a: DOID:971 ! tendinitis [Term] id: DOID:9700 name: bacterial conjunctivitis subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Purulent conjunctivitis" EXACT [] xref: ICD10CM:H10.0 xref: MESH:D003234 xref: NCI:C53656 xref: SNOMEDCT_US_2023_03_01:193877001 xref: UMLS_CUI:C0009768 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:6195 ! conjunctivitis [Term] id: DOID:9709 name: rosacea conjunctivitis xref: ICD10CM:H10.82 xref: ICD9CM:372.31 xref: SNOMEDCT_US_2023_03_01:10128002 xref: UMLS_CUI:C0155152 is_a: DOID:6195 ! conjunctivitis [Term] id: DOID:971 name: tendinitis subset: NCIthesaurus xref: ICD10CM:M77.9 xref: MESH:D052256 xref: NCI:C97141 xref: SNOMEDCT_US_2023_03_01:312785002 xref: UMLS_CUI:C0039503 is_a: DOID:633 ! myositis [Term] id: DOID:9714 name: occlusion of gallbladder subset: NCIthesaurus synonym: "Obstruction of gallbladder" EXACT [] xref: ICD10CM:K82.0 xref: ICD9CM:575.2 xref: NCI:C78308 xref: SNOMEDCT_US_2023_03_01:197415009 xref: UMLS_CUI:C0156214 is_a: DOID:0060262 ! gallbladder disease [Term] id: DOID:9717 name: hydrops of gallbladder xref: ICD10CM:K82.1 xref: ICD9CM:575.3 xref: SNOMEDCT_US_2023_03_01:197421008 xref: UMLS_CUI:C0152445 is_a: DOID:0060262 ! gallbladder disease [Term] id: DOID:9718 name: obsolete meningococcal myocarditis subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:9719 name: neovascular inflammatory vitreoretinopathy def: "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5." [url:https\://www.ncbi.nlm.nih.gov/pubmed/23055945] subset: DO_rare_slim synonym: "ADNIV" EXACT OMO:0003012 [] synonym: "autosomal dominant neovascular inflammatory vitreoretinopathy" EXACT [] synonym: "proliferative vitreoretinopathy" EXACT [] synonym: "Retinitis proliferans" EXACT [] xref: MESH:D018630 xref: MIM:193235 xref: ORDO:329211 xref: SNOMEDCT_US_2023_03_01:232016005 xref: UMLS_CUI:C0242852 is_a: DOID:5679 ! retinal disease is_a: DOID:9720 ! vitreous disease [Term] id: DOID:972 name: obsolete malignant neoplasm of cerebrum except lobes and ventricles is_obsolete: true [Term] id: DOID:9720 name: vitreous disease def: "An eye and adnexa disease that is located in the vitreous of the eye." [url:https\://utswmed.org/conditions-treatments/vitreoretinal-diseases-and-surgery/] xref: ICD10CM:H43.39 xref: ICD9CM:379.24 xref: SNOMEDCT_US_2023_03_01:194154006 xref: UMLS_CUI:C0029872 is_a: DOID:5614 ! eye disease [Term] id: DOID:9722 name: ophthalmia nodosa xref: ICD10CM:H16.24 xref: ICD9CM:360.14 xref: SNOMEDCT_US_2023_03_01:12371008 xref: UMLS_CUI:C0154775 is_a: DOID:5614 ! eye disease [Term] id: DOID:9723 name: vitreous abscess def: "A vitreous disease that is characterized by an abscess located_in the vitreous of the eye." [url:https\://link.springer.com/chapter/10.1007/978-1-4614-7082-3_93] xref: ICD9CM:360.04 xref: SNOMEDCT_US_2023_03_01:48142003 xref: UMLS_CUI:C0042904 is_a: DOID:9720 ! vitreous disease is_a: DOID:9724 ! purulent endophthalmitis [Term] id: DOID:9724 name: purulent endophthalmitis xref: ICD10CM:H44.0 xref: ICD9CM:360.0 xref: SNOMEDCT_US_2023_03_01:41720003 xref: UMLS_CUI:C0259800 is_a: DOID:4692 ! endophthalmitis [Term] id: DOID:9726 name: vitreous detachment subset: NCIthesaurus xref: ICD10CM:H43.81 xref: MESH:D020255 xref: NCI:C50807 xref: SNOMEDCT_US_2023_03_01:267747007 xref: UMLS_CUI:C0042907 is_a: DOID:9720 ! vitreous disease [Term] id: DOID:9728 name: obsolete vitreous membranes and strands is_obsolete: true [Term] id: DOID:9729 name: obsolete crystalline deposits in vitreous is_obsolete: true [Term] id: DOID:9733 name: renal tuberculosis def: "An urogenital tuberculosis that results_in formation of granulomas located_in kidney." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736345/] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "Tuberculosis of kidney" EXACT [] xref: ICD9CM:016.0 xref: MESH:D014398 xref: NCI:C123020 xref: SNOMEDCT_US_2023_03_01:44323002 xref: UMLS_CUI:C0041328 is_a: DOID:2149 ! urogenital tuberculosis is_a: DOID:557 ! kidney disease [Term] id: DOID:9734 name: obsolete urinary tuberculosis subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:9735 name: acute allergic mucoid otitis media def: "A blue drum syndrome caused by an allergen." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15301306] xref: ICD9CM:381.05 xref: SNOMEDCT_US_2023_03_01:194242003 xref: UMLS_CUI:C0155419 is_a: DOID:1205 ! allergic disease is_a: DOID:9736 ! blue drum syndrome [Term] id: DOID:9736 name: blue drum syndrome def: "A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color." [url:http\://books.google.com/books?id=6qIZei3Da-wC&pg=PA84&lpg#v=onepage&q=&f=false, url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false] synonym: "acute mucoid otitis media" EXACT [] xref: ICD9CM:381.02 xref: SNOMEDCT_US_2023_03_01:52353000 xref: UMLS_CUI:C0395863 is_a: DOID:3697 ! acute transudative otitis media [Term] id: DOID:9739 name: eustachian tube disease def: "A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be caused by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation." [url:http\://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false] xref: ICD9CM:381.8 xref: SNOMEDCT_US_2023_03_01:194277003 xref: UMLS_CUI:C0155435 is_a: DOID:11180 ! non-suppurative otitis media [Term] id: DOID:974 name: upper respiratory tract disease def: "A respiratory system disease which involves the upper respiratory tract." [url:http\://en.wikipedia.org/wiki/Category\:Upper_respiratory_tract_diseases, url:http\://www.who.int/topics/respiratory_tract_diseases/en/] xref: ICD9CM:478.19 xref: SNOMEDCT_US_2023_03_01:195823002 xref: UMLS_CUI:C0029581 is_a: DOID:1579 ! respiratory system disease [Term] id: DOID:9740 name: postcholecystectomy syndrome def: "A biliary tract disease characterized by the continuation or development of new gastrointestinal symptoms after cholecystectomy." [url:https\://en.wikipedia.org/wiki/Postcholecystectomy_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/29730174/, url:https\://www.ncbi.nlm.nih.gov/books/NBK539902/] xref: ICD10CM:K91.5 xref: ICD9CM:576.0 xref: MESH:D017562 xref: SNOMEDCT_US_2023_03_01:90782003 xref: UMLS_CUI:C0152099 is_a: DOID:9741 ! biliary tract disease [Term] id: DOID:9741 name: biliary tract disease def: "A hepatobiliary disease that is located_in the biliary tract." [url:https\://my.clevelandclinic.org/departments/digestive/medical-professionals/hepatology/gallbladder-biliary-tract-disease] xref: ICD10CM:K83.9 xref: ICD9CM:576.9 xref: MESH:D001660 xref: SNOMEDCT_US_2023_03_01:5235004 xref: UMLS_CUI:C0005424 is_a: DOID:3118 ! hepatobiliary disease [Term] id: DOID:9742 name: pelvic varices def: "A varicose veins that is located_in the pelvis." [url:https\://en.wikipedia.org/wiki/Varicose_veins] xref: ICD10CM:I86.2 xref: ICD9CM:456.5 xref: SNOMEDCT_US_2023_03_01:17406005 xref: UMLS_CUI:C0155795 is_a: DOID:799 ! varicose veins [Term] id: DOID:9743 name: diabetic neuropathy subset: NCIthesaurus xref: ICD9CM:250.6 xref: MESH:D003929 xref: NCI:C26748 xref: SNOMEDCT_US_2023_03_01:193182005 xref: UMLS_CUI:C0011882 is_a: DOID:870 ! neuropathy [Term] id: DOID:9744 name: type 1 diabetes mellitus def: "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production." [url:http\://en.wikipedia.org/wiki/Diabetes, url:http\://en.wikipedia.org/wiki/Diabetes_mellitus_type_1] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "IDDM" EXACT OMO:0003012 [] synonym: "insulin-dependent diabetes mellitus" EXACT [] synonym: "type I diabetes mellitus" EXACT [] xref: GARD:10268 xref: ICD10CM:E10 xref: KEGG:04940 xref: MESH:D003922 xref: MIM:222100 xref: NCI:C2986 xref: SNOMEDCT_US_2023_03_01:46635009 xref: UMLS_CUI:C0011854 is_a: DOID:0060005 ! autoimmune disease of endocrine system is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9745 name: perianal hematoma synonym: "External thrombosed haemorrhoids" EXACT [] synonym: "Thrombosed external hemorrhoids" EXACT [] xref: ICD10CM:K64.5 xref: ICD9CM:455.4 xref: SNOMEDCT_US_2023_03_01:26373009 xref: UMLS_CUI:C0155784 is_a: DOID:9746 ! hemorrhoid [Term] id: DOID:9746 name: hemorrhoid def: "A pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum." [url:http\://en.wikipedia.org/wiki/Hemorrhoid, url:http\://www.nlm.nih.gov/medlineplus/hemorrhoids.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/19725283] subset: NCIthesaurus synonym: "hemorrhoidal disease" EXACT [] xref: ICD10CM:K64 xref: ICD9CM:455 xref: MESH:D006484 xref: NCI:C26792 xref: SNOMEDCT_US_2023_03_01:70153002 xref: UMLS_CUI:C0019112 is_a: DOID:3128 ! anus disease is_a: DOID:37 ! skin disease is_a: DOID:9742 ! pelvic varices [Term] id: DOID:9749 name: internal hemorrhoid def: "A hemorrhoid that is located_in the rectum." [url:https\://www.mayoclinic.org/diseases-conditions/hemorrhoids/symptoms-causes/syc-20360268] xref: ICD9CM:455.6 xref: SNOMEDCT_US_2023_03_01:82985000 xref: UMLS_CUI:C0041844 is_a: DOID:9746 ! hemorrhoid [Term] id: DOID:9751 name: obsolete popliteal cyst synonym: "Baker's Cyst" EXACT [] is_obsolete: true [Term] id: DOID:9753 name: obsolete rupture of synovium is_obsolete: true [Term] id: DOID:9754 name: ganglion or cyst of synovium/tendon/bursa xref: ICD9CM:727.49 xref: UMLS_CUI:C0158336 is_a: DOID:381 ! arthropathy [Term] id: DOID:9761 name: obsolete arthropathy associated with dermatological disorder is_obsolete: true [Term] id: DOID:9762 name: obsolete perinatal cyanotic attack synonym: "Cyanotic attacks of newborn" EXACT [] is_obsolete: true [Term] id: DOID:9764 name: obsolete biliary calculus with cholecystitis synonym: "calculus of gallbladder with cholecystitis (disorder)" EXACT [] synonym: "cholecystitis with Cholelithiasis" EXACT [] is_obsolete: true [Term] id: DOID:9765 name: emphysematous cholecystitis def: "A cholecystitis consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues, where gallbladder wall necrosis causes gas formation in the lumen or wall." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=choleysistitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=emphysematous, url:https\://radiopaedia.org/articles/emphysematous-cholecystitis?lang=us] subset: NCIthesaurus synonym: "Gaseous pericholecystitis" EXACT [] xref: MESH:D041882 xref: NCI:C35592 xref: SNOMEDCT_US_2023_03_01:95558008 xref: UMLS_CUI:C0521610 is_a: DOID:1949 ! cholecystitis [Term] id: DOID:9766 name: xanthogranulomatous cholecystitis def: "A cholecystitis characterized by nodules containing lipid-laden macrophages." [url:https\://pubmed.ncbi.nlm.nih.gov/23991684/, url:https\://pubmed.ncbi.nlm.nih.gov/26981227/] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:9451 xref: MESH:C536762 xref: NCI:C35792 xref: SNOMEDCT_US_2023_03_01:448286002 xref: UMLS_CUI:C1337035 is_a: DOID:1949 ! cholecystitis [Term] id: DOID:9767 name: myocardial stunning xref: MESH:D017682 xref: UMLS_CUI:C0206146 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:9768 name: heart aneurysm synonym: "cardiac aneurysm" EXACT [] xref: ICD10CM:I25.3 xref: MESH:D006322 xref: SNOMEDCT_US_2023_03_01:155317009 xref: UMLS_CUI:C0018789 is_a: DOID:114 ! heart disease [Term] id: DOID:9770 name: obsolete Retracted nipple associated with childbirth is_obsolete: true [Term] id: DOID:9771 name: transient neonatal thrombocytopenia xref: ICD10CM:P61.0 xref: ICD9CM:776.1 xref: SNOMEDCT_US_2023_03_01:23205009 xref: UMLS_CUI:C0158991 is_a: DOID:11245 ! transient neonatal neutropenia [Term] id: DOID:9772 name: obsolete hematological disease of fetus and newborn is_obsolete: true [Term] id: DOID:9773 name: female breast upper-outer quadrant cancer def: "A female breast cancer that is located_in the upper-outer quadrant of the breast." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/] xref: ICD10CM:C50.41 xref: ICD9CM:174.4 xref: SNOMEDCT_US_2023_03_01:188154003 xref: UMLS_CUI:C0153552 is_a: DOID:0050671 ! female breast cancer [Term] id: DOID:9775 name: diastolic heart failure xref: ICD10CM:I50.30 xref: ICD9CM:428.3 xref: MESH:D054144 xref: SNOMEDCT_US_2023_03_01:418304008 xref: UMLS_CUI:C1135196 is_a: DOID:6000 ! congestive heart failure [Term] id: DOID:9776 name: Senile atrophy of choroid xref: ICD9CM:363.41 xref: SNOMEDCT_US_2023_03_01:38513001 xref: UMLS_CUI:C0154891 is_a: DOID:980 ! choroidal sclerosis [Term] id: DOID:9778 name: irritable bowel syndrome def: "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause." [url:http\://en.wikipedia.org/wiki/Irritable_bowel_syndrome, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/irritable-bowel-syndrome] subset: NCIthesaurus synonym: "IBD" EXACT OMO:0003012 [] synonym: "Irritable colon" EXACT [] synonym: "Psychogenic IBS" RELATED [] xref: ICD10CM:K58 xref: ICD9CM:564.1 xref: KEGG:05321 xref: MESH:D043183 xref: NCI:C82343 xref: SNOMEDCT_US_2023_03_01:155783000 xref: UMLS_CUI:C0022104 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:9779 name: bowel dysfunction xref: ICD10CM:K59.9 xref: ICD9CM:564.9 xref: SNOMEDCT_US_2023_03_01:81120009 xref: UMLS_CUI:C0016807 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:9784 name: trichinosis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichinellosis.htm] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Trichinella spiralis infection" EXACT [] xref: ICD10CM:B75 xref: ICD9CM:124 xref: MESH:D014235 xref: NCI:C85199 xref: SNOMEDCT_US_2023_03_01:709018004 xref: UMLS_CUI:C0040896 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:9786 name: bulbar polio def: "A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem, 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 difficulty breathing, has symptom difficulty speaking, has symptom difficulty swallowing, and has symptom difficulty chewing." [url:http\://en.wikipedia.org/wiki/Poliomyelitis] subset: DO_infectious_disease_slim synonym: "bulbar poliomyelitis" EXACT [] xref: ICD9CM:045.0 xref: MESH:D011052 xref: SNOMEDCT_US_2023_03_01:64764001 xref: UMLS_CUI:C0032372 is_a: DOID:0050515 ! paralytic poliomyelitis [Term] id: DOID:9787 name: obsolete Foreign body granuloma of muscle is_obsolete: true [Term] id: DOID:9788 name: myositis fibrosa subset: NCIthesaurus synonym: "Interstitial myositis" EXACT [] xref: ICD10CM:M60.1 xref: ICD9CM:728.81 xref: NCI:C26985 xref: SNOMEDCT_US_2023_03_01:55925001 xref: UMLS_CUI:C0158362 is_a: DOID:633 ! myositis [Term] id: DOID:979 name: angioid streaks of choroid xref: ICD9CM:363.43 xref: SNOMEDCT_US_2023_03_01:86103006 xref: UMLS_CUI:C0002983 is_a: DOID:13401 ! angioid streaks is_a: DOID:8466 ! retinal degeneration is_a: DOID:980 ! choroidal sclerosis [Term] id: DOID:9790 name: toxocariasis alt_id: DOID:9791 def: "A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions." [url:http\://www.dpd.cdc.gov/dpdx/HTML/Toxocariasis.htm] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Infection by Toxascaris" EXACT [] synonym: "Toxocara infection" EXACT [] synonym: "visceral larva migrans" EXACT [] xref: GARD:7788 xref: ICD10CM:B83.0 xref: MESH:D007816 xref: NCI:C34758 xref: SNOMEDCT_US_2023_03_01:87121004 xref: UMLS_CUI:C0023049 is_a: DOID:0080000 ! muscular disease is_a: DOID:114 ! heart disease is_a: DOID:409 ! liver disease is_a: DOID:5614 ! eye disease is_a: DOID:850 ! lung disease is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:936 ! brain disease [Term] id: DOID:9794 name: hereditary choroidal atrophy xref: ICD10CM:H31.2 xref: ICD9CM:363.5 xref: SNOMEDCT_US_2023_03_01:74469006 xref: UMLS_CUI:C0154893 is_a: DOID:980 ! choroidal sclerosis [Term] id: DOID:9795 name: obsolete tuberculous meningitis alt_id: DOID:9793 subset: gram-positive_bacterial_infectious_disease synonym: "meningeal tuberculosis" EXACT [] synonym: "tuberculoma of meninges" EXACT [] is_obsolete: true [Term] id: DOID:9799 name: eye degenerative disease xref: ICD10CM:H44.5 xref: ICD9CM:360.4 xref: SNOMEDCT_US_2023_03_01:62585004 xref: UMLS_CUI:C0154777 is_a: DOID:5614 ! eye disease [Term] id: DOID:98 name: obsolete staphylococcal infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:980 name: choroidal sclerosis comment: OMIM mapping confirmed by DO. [SN]. synonym: "Choroidal degenerations" EXACT [] xref: ICD10CM:H31.10 xref: ICD9CM:363.4 xref: MESH:C535358 xref: MIM:215500 xref: SNOMEDCT_US_2023_03_01:47638000 xref: UMLS_CUI:C0344297 is_a: DOID:1417 ! choroid disease is_a: DOID:9799 ! eye degenerative disease [Term] id: DOID:9801 name: tuberculous peritonitis def: "A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation." [url:http\://books.google.com/books?id=130IVak1eCwC&pg=PA695&lpg=PA695&dq#v=onepage&q=&f=false] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease xref: ICD10CM:A18.31 xref: ICD9CM:014.0 xref: MESH:D014395 xref: SNOMEDCT_US_2023_03_01:197170002 xref: UMLS_CUI:C0041325 is_a: DOID:404 ! gastrointestinal tuberculosis [Term] id: DOID:9804 name: obsolete pneumococcal peritonitis def: "A pneumococcal infectious disease that involves inflammation of the peritoneum caused by streptococcal infection. The symptoms include diarrhea, fever, fasciitis and influenza-like syndrome." [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/20013929] subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:9805 name: obsolete pneumococcal infectious disease subset: gram-positive_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:9808 name: Goodpasture syndrome alt_id: DOID:9812 def: "An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure." [url:http\://en.wikipedia.org/wiki/Goodpasteure%27s_syndrome] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "anti-GBM disease" EXACT [] synonym: "anti-glomerular basement membrane disease" EXACT [] xref: GARD:2551 xref: ICD10CM:M31.0 xref: ICD9CM:446.21 xref: MESH:D019867 xref: MIM:233450 xref: NCI:C84566 xref: SNOMEDCT_US_2023_03_01:788613004 xref: UMLS_CUI:C0403529 is_a: DOID:0060049 ! autoimmune disease of urogenital tract is_a: DOID:557 ! kidney disease is_a: DOID:850 ! lung disease [Term] id: DOID:9809 name: hypersensitivity vasculitis def: "A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers." [url:https\://rarediseases.info.nih.gov/diseases/7851/hypersensitivity-vasculitis] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7851 xref: ICD10CM:M31.0 xref: ICD9CM:446.2 xref: MESH:D018366 xref: NCI:C35119 xref: SNOMEDCT_US_2023_03_01:195350001 xref: UMLS_CUI:C0151436 is_a: DOID:1557 ! hypersensitivity reaction type III disease [Term] id: DOID:981 name: diffuse secondary choroid atrophy xref: ICD10CM:H31.12 xref: ICD9CM:363.42 xref: SNOMEDCT_US_2023_03_01:193463006 xref: UMLS_CUI:C0154892 is_a: DOID:980 ! choroidal sclerosis [Term] id: DOID:9810 name: polyarteritis nodosa def: "A vasculitis that is characterized by necrotizing inflammation of medium or small arteries." [url:https\://en.wikipedia.org/wiki/Polyarteritis_nodosa, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4029362/] subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7360 xref: ICD10CM:M30.0 xref: ICD9CM:446.0 xref: MESH:D010488 xref: NCI:C26847 xref: SNOMEDCT_US_2023_03_01:195347004 xref: UMLS_CUI:C0031036 is_a: DOID:865 ! vasculitis [Term] id: DOID:9811 name: partial circumpapillary choroid dystrophy xref: ICD9CM:363.51 xref: SNOMEDCT_US_2023_03_01:193466003 xref: UMLS_CUI:C0154895 is_a: DOID:9794 ! hereditary choroidal atrophy [Term] id: DOID:9815 name: obsolete Recent retinal detachment, total or subtotal is_obsolete: true [Term] id: DOID:9816 name: obsolete partial recent retinal detachment with giant tear is_obsolete: true [Term] id: DOID:9818 name: obsolete retinal defect alt_id: DOID:12513 alt_id: DOID:12515 alt_id: DOID:9817 alt_id: DOID:9826 is_obsolete: true [Term] id: DOID:9819 name: obsolete delimited old retinal detachment is_obsolete: true [Term] id: DOID:982 name: obsolete disorganized type schizophrenia subchronic state with acute exacerbation is_obsolete: true [Term] id: DOID:9820 name: central gyrate choroidal dystrophy synonym: "Choroidal dystrophy, serpiginous" EXACT [] xref: ICD9CM:363.54 xref: SNOMEDCT_US_2023_03_01:392049002 xref: UMLS_CUI:C0154898 is_a: DOID:9822 ! partial central choroid dystrophy [Term] id: DOID:9821 name: choroideremia comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "progressive Choroidal Atrophy" EXACT [] xref: GARD:6061 xref: ICD10CM:H31.21 xref: ICD9CM:363.55 xref: MESH:D015794 xref: MIM:303100 xref: NCI:C34469 xref: ORDO:180 xref: SNOMEDCT_US_2023_03_01:75241009 xref: UMLS_CUI:C0008525 is_a: DOID:1417 ! choroid disease property_value: exactMatch "MESH:D015794" xsd:string [Term] id: DOID:9822 name: partial central choroid dystrophy comment: OMIM mapping confirmed by DO. [SN]. synonym: "Choroidal dystrophy, central areolar" EXACT [] xref: ICD9CM:363.53 xref: MIM:613105 xref: SNOMEDCT_US_2023_03_01:193468002 xref: UMLS_CUI:C0339427 is_a: DOID:9794 ! hereditary choroidal atrophy [Term] id: DOID:9823 name: obsolete Partial recent retinal detachment with retinal dialysis is_obsolete: true [Term] id: DOID:9824 name: obsolete total or subtotal old retinal detachment is_obsolete: true [Term] id: DOID:9827 name: radioulnar synostosis comment: OMIM mapping confirmed by DO. [SN]. xref: ICD10CM:Q74.0 xref: ICD9CM:755.53 xref: MESH:C562408 xref: MIM:179300 xref: SNOMEDCT_US_2023_03_01:33313004 xref: UMLS_CUI:C0158761 is_a: DOID:0080015 ! physical disorder [Term] id: DOID:9828 name: neonatal abstinence syndrome alt_id: DOID:6679 def: "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment." [url:http\://en.wikipedia.org/wiki/Neonatal_abstinence_syndrome] subset: NCIthesaurus synonym: "Drug withdrawal syndrome in newborn" EXACT [] xref: ICD10CM:P96.1 xref: ICD9CM:779.5 xref: MESH:D009357 xref: NCI:C35808 xref: NCI:C87101 xref: SNOMEDCT_US_2023_03_01:414819007 xref: UMLS_CUI:C0027609 xref: UMLS_CUI:C1332133 is_a: DOID:0060001 ! withdrawal disorder [Term] id: DOID:9829 name: obsolete drug abstinence syndrome or symptom is_obsolete: true [Term] id: DOID:9834 name: hyperopia def: "A refractive error that is characterized by rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back." [url:https\://www.mayoclinic.org/diseases-conditions/farsightedness/symptoms-causes/syc-20372495] synonym: "Far-sightedness" EXACT [] synonym: "farsightedness" EXACT [] synonym: "hypermetropia" EXACT [] xref: ICD10CM:H52.0 xref: ICD9CM:367.0 xref: MESH:D006956 xref: SNOMEDCT_US_2023_03_01:38101003 xref: UMLS_CUI:C0020490 is_a: DOID:9835 ! refractive error [Term] id: DOID:9835 name: refractive error subset: NCIthesaurus xref: ICD10CM:H52.7 xref: MESH:D012030 xref: NCI:C87145 xref: SNOMEDCT_US_2023_03_01:39021009 xref: UMLS_CUI:C0034951 is_a: DOID:5614 ! eye disease [Term] id: DOID:9836 name: obsolete refraction or accommodation disorder is_obsolete: true [Term] id: DOID:9837 name: hypertropia subset: NCIthesaurus xref: ICD10CM:H50.2 xref: ICD9CM:378.31 xref: MESH:D013285 xref: NCI:C34716 xref: SNOMEDCT_US_2023_03_01:40608009 xref: UMLS_CUI:C0020575 is_a: DOID:540 ! strabismus [Term] id: DOID:9838 name: cyclotropia xref: ICD10CM:H50.41 xref: ICD9CM:378.33 xref: MESH:C000721272 xref: SNOMEDCT_US_2023_03_01:70486007 xref: UMLS_CUI:C0152209 is_a: DOID:540 ! strabismus [Term] id: DOID:9839 name: accommodative esotropia xref: ICD10CM:H50.43 xref: ICD9CM:378.35 xref: SNOMEDCT_US_2023_03_01:194112008 xref: UMLS_CUI:C0155336 is_a: DOID:9840 ! esotropia [Term] id: DOID:984 name: obsolete temporomandibular joint disorder alt_id: DOID:983 synonym: "Costen's syndrome" EXACT [] synonym: "Myofascial pain - dysfunction syndrome of TMJ" EXACT [] synonym: "temporomandibular dysfunction syndrome" EXACT [] synonym: "temporomandibular joint dysfunction syndrome" EXACT [] synonym: "TMJ SYNDROME" EXACT [] synonym: "TMJ-pain-dysfunction syndrome" EXACT [] is_obsolete: true [Term] id: DOID:9840 name: esotropia def: "A strabismus that is characterized the eye which turns inward toward the nose." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cross-eye+] subset: DO_rare_slim subset: NCIthesaurus synonym: "Convergence in manifest squint" EXACT [] synonym: "crossed eyes" EXACT [] synonym: "Internal Strabismus" EXACT [] xref: GARD:8235 xref: ICD10CM:H50.0 xref: ICD9CM:378.0 xref: MESH:D004948 xref: NCI:C34596 xref: SNOMEDCT_US_2023_03_01:155193001 xref: UMLS_CUI:C0014877 is_a: DOID:540 ! strabismus [Term] id: DOID:9841 name: hypotropia subset: NCIthesaurus xref: ICD9CM:378.32 xref: NCI:C42086 xref: SNOMEDCT_US_2023_03_01:29491004 xref: UMLS_CUI:C0152208 is_a: DOID:540 ! strabismus [Term] id: DOID:9842 name: total circumpapillary dystrophy of choroid synonym: "Circumpapillary dystrophy of choroid, total" EXACT [] xref: ICD9CM:363.52 xref: SNOMEDCT_US_2023_03_01:59753003 xref: UMLS_CUI:C0154896 is_a: DOID:9794 ! hereditary choroidal atrophy [Term] id: DOID:9843 name: monofixation syndrome xref: ICD10CM:H50.42 xref: ICD9CM:378.34 xref: SNOMEDCT_US_2023_03_01:14785004 xref: UMLS_CUI:C0339611 is_a: DOID:540 ! strabismus [Term] id: DOID:9847 name: peripheral vertigo def: "A vestibular disease that is characterized by a sensation of motion or spinning that is often described as dizziness due to a problem in the part of the inner ear that controls balance." [url:https\://medlineplus.gov/ency/article/001432.htm] xref: ICD10CM:H81.399 xref: ICD9CM:386.19 xref: SNOMEDCT_US_2023_03_01:194359006 xref: UMLS_CUI:C0029706 is_a: DOID:3426 ! vestibular disease [Term] id: DOID:9848 name: endolymphatic hydrops synonym: "labyrinthine hydrops" EXACT [] xref: ICD10CM:H81.0 xref: MESH:D018159 xref: SNOMEDCT_US_2023_03_01:194346003 xref: UMLS_CUI:C0206586 is_a: DOID:9847 ! peripheral vertigo [Term] id: DOID:9849 name: Meniere's disease def: "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." [url:http\://en.wikipedia.org/wiki/M%C3%A9ni%C3%A8re%27s_disease] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus synonym: "Meniere disease" EXACT [] synonym: "Mnire's vertigo" EXACT [] synonym: "Otogenic vertigo" EXACT [] xref: GARD:10340 xref: ICD10CM:H81.0 xref: ICD9CM:386.0 xref: MESH:D008575 xref: MIM:156000 xref: NCI:C185243 xref: SNOMEDCT_US_2023_03_01:194346003 xref: UMLS_CUI:C0025281 is_a: DOID:9848 ! endolymphatic hydrops [Term] id: DOID:985 name: obsolete disorganized type schizophrenia subchronic state is_obsolete: true [Term] id: DOID:9854 name: lingual-facial-buccal dyskinesia synonym: "Oro-facial dyskinesia" EXACT [] xref: ICD10CM:G24.4 xref: ICD9CM:333.82 xref: MESH:D020820 xref: SNOMEDCT_US_2023_03_01:267689009 xref: UMLS_CUI:C0152115 is_a: DOID:480 ! movement disease [Term] id: DOID:9855 name: obsolete syphilitic interstitial keratitis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease is_obsolete: true [Term] id: DOID:9856 name: congenital syphilis def: "A syphilis that results_in a multisystem infection in the fetus via the placenta." [url:http\://www.merckmanuals.com/professional/sec19/ch279/ch279d.html] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus xref: ICD10CM:A50 xref: ICD9CM:090 xref: MESH:D013590 xref: NCI:C84649 xref: SNOMEDCT_US_2023_03_01:154380005 xref: UMLS_CUI:C0039131 is_a: DOID:0080015 ! physical disorder is_a: DOID:4166 ! syphilis [Term] id: DOID:9857 name: interstitial keratitis def: "A connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation located_in the corneal stroma, has_symptom visual acuity loss, has_symptom pain, and has_symptom lacrimation." [url:https\://en.wikipedia.org/wiki/Interstitial_keratitis] xref: ICD10CM:H16.30 xref: ICD9CM:370.50 xref: SNOMEDCT_US_2023_03_01:1763009 xref: UMLS_CUI:C0155088 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:9858 name: deep keratitis xref: ICD10CM:H16.3 xref: ICD9CM:370.5 xref: SNOMEDCT_US_2023_03_01:193783008 xref: UMLS_CUI:C0155087 is_a: DOID:4677 ! keratitis [Term] id: DOID:986 name: alopecia areata def: "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots." [url:http\://en.wikipedia.org/wiki/Alopecia_areata] {comment="ls:IEDB"} subset: DO_rare_slim synonym: "Circumscribed alopecia" EXACT [] xref: EFO:0004192 xref: GARD:5782 xref: ICD10CM:L63 xref: ICD9CM:704.01 xref: MESH:D000506 xref: MIM:104000 xref: MIM:610753 xref: SNOMEDCT_US_2023_03_01:201131001 xref: UMLS_CUI:C0002171 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue property_value: exactMatch "MESH:D000506" xsd:string [Term] id: DOID:9861 name: miliary tuberculosis alt_id: DOID:9862 def: "An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs." [url:http\://en.wikipedia.org/wiki/Disseminated_tuberculosis] subset: DO_infectious_disease_slim subset: gram-positive_bacterial_infectious_disease subset: NCIthesaurus synonym: "acute miliary tuberculosis" EXACT [] synonym: "Disseminated tuberculosis" EXACT [] synonym: "generalized tuberculosis" EXACT [] synonym: "Tuberculosis miliaris disseminata" EXACT [] xref: ICD10CM:A19 xref: ICD9CM:018 xref: MESH:D014391 xref: NCI:C35086 xref: SNOMEDCT_US_2023_03_01:154291001 xref: UMLS_CUI:C0041321 is_a: DOID:0050598 ! extrapulmonary tuberculosis [Term] id: DOID:9866 name: obsolete lactation disorder is_obsolete: true [Term] id: DOID:9867 name: toxic maculopathy synonym: "Toxic maculopathy of retina" EXACT [] xref: ICD10CM:H35.38 xref: ICD9CM:362.55 xref: SNOMEDCT_US_2023_03_01:193389005 xref: UMLS_CUI:C0271086 is_a: DOID:2007 ! degeneration of macula and posterior pole [Term] id: DOID:9868 name: intestinal disaccharidase deficiency subset: NCIthesaurus xref: ICD9CM:271.3 xref: NCI:C34731 xref: UMLS_CUI:C0021830 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:5295 ! intestinal disease [Term] id: DOID:9869 name: hereditary fructose intolerance syndrome def: "A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31." [url:https\://pubmed.ncbi.nlm.nih.gov/20848650/, url:https\://pubmed.ncbi.nlm.nih.gov/9610797/] subset: NCIthesaurus synonym: "Fructosaemia" EXACT [] synonym: "Fructose-1,6-bisphosphate aldolase B deficiency" EXACT [] synonym: "Fructosemia" EXACT [] xref: ICD10CM:E74.12 xref: ICD9CM:271.2 xref: MESH:D005633 xref: MIM:229600 xref: NCI:C84720 xref: SNOMEDCT_US_2023_03_01:20290005 xref: UMLS_CUI:C0016751 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:987 name: alopecia def: "A hypotrichosis that is characterized by a loss of hair from the head or body." [url:http\://en.wikipedia.org/wiki/Alopecia, url:http\://www.omim.org/entry/109200?search=109200&highlight=109200] subset: NCIthesaurus xref: ICD10CM:L65.9 xref: ICD9CM:704.0 xref: MESH:D000505 xref: MIM:PS203655 xref: NCI:C50575 xref: SNOMEDCT_US_2023_03_01:270504008 xref: UMLS_CUI:C0002170 is_a: DOID:4535 ! hypotrichosis property_value: exactMatch "MESH:D000505" xsd:string [Term] id: DOID:9870 name: galactosemia def: "A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues." [url:http\://en.wikipedia.org/wiki/Galactosemia] comment: OMIM mapping by NeuroDevNet. [LS]. subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "Galactosaemia" EXACT [] synonym: "Galactose intolerance" EXACT [] xref: GARD:2424 xref: ICD10CM:E74.21 xref: ICD9CM:271.1 xref: MESH:D005693 xref: NCI:C84723 xref: SNOMEDCT_US_2023_03_01:38177000 xref: UMLS_CUI:C0016952 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:9877 name: urethral gland abscess xref: ICD10CM:N34.0 xref: ICD9CM:597.0 xref: SNOMEDCT_US_2023_03_01:197899005 xref: UMLS_CUI:C0156278 is_a: DOID:732 ! urethral disease [Term] id: DOID:9878 name: obsolete Excessive vomiting starting after 22 completed weeks of gestation alt_id: DOID:13418 synonym: "antepartum late vomiting of pregnancy" EXACT [] is_obsolete: true [Term] id: DOID:988 name: mitral valve prolapse def: "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole." [url:http\://en.wikipedia.org/wiki/Mitral_valve_prolapse, url:http\://ghr.nlm.nih.gov/glossary=mitralvalveprolapse, url:http\://www.merckmanuals.com/professional/cardiovascular_disorders/valvular_disorders/mitral_valve_prolapse_mvp.html, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/564/viewAbstract] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: NCIthesaurus synonym: "Barlow's syndrome" EXACT [] synonym: "floppy mitral valve" EXACT [] synonym: "mitral leaflet syndrome" RELATED [] synonym: "myxomatous mitral valve prolapse" RELATED [] synonym: "systolic click-murmur syndrome" RELATED [] xref: MESH:D008945 xref: MIM:157700 xref: MIM:607829 xref: MIM:610840 xref: NCI:C50655 xref: SNOMEDCT_US_2023_03_01:8074002 xref: UMLS_CUI:C0026267 is_a: DOID:61 ! mitral valve disease [Term] id: DOID:9880 name: cardiovascular syphilis def: "A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease xref: ICD9CM:093.8 xref: SNOMEDCT_US_2023_03_01:111823001 xref: UMLS_CUI:C0029751 is_a: DOID:8200 ! tertiary syphilis [Term] id: DOID:9883 name: Becker muscular dystrophy def: "A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis_in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19461958, url:https\://www.omim.org/entry/300376] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim synonym: "benign congenital myopathy" EXACT [] synonym: "Benign pseudohypertrophic muscular dystrophy" EXACT [] xref: GARD:5900 xref: MIM:300376 xref: ORDO:98895 xref: SNOMEDCT_US_2023_03_01:111501005 xref: UMLS_CUI:C0699741 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:9884 name: muscular dystrophy def: "A myopathy is characterized by progressive skeletal muscle weakness degeneration." [url:http\://en.wikipedia.org/wiki/Muscular_dystrophy, url:http\://www.ninds.nih.gov/disorders/md/md.htm] subset: DO_FlyBase_slim subset: DO_rare_slim subset: NCIthesaurus xref: GARD:7922 xref: ICD10CM:G71.0 xref: MESH:D009136 xref: MIM:158800 xref: MIM:159050 xref: MIM:309930 xref: MIM:309950 xref: MIM:310000 xref: MIM:310095 xref: MIM:600416 xref: NCI:C84910 xref: SNOMEDCT_US_2023_03_01:155095006 xref: UMLS_CUI:C0026850 is_a: DOID:0050692 ! Brody myopathy is_a: DOID:423 ! myopathy [Term] id: DOID:9888 name: alternating esotropia xref: ICD10CM:H50.05 xref: ICD9CM:378.05 xref: SNOMEDCT_US_2023_03_01:194080005 xref: UMLS_CUI:C0152205 is_a: DOID:9840 ! esotropia [Term] id: DOID:9889 name: obsolete alternating esotropia with A pattern is_obsolete: true [Term] id: DOID:9890 name: obsolete intermittent alternating esotropia is_obsolete: true [Term] id: DOID:9891 name: obsolete alternating esotropia with V pattern is_obsolete: true [Term] id: DOID:9892 name: median arcuate ligament syndrome synonym: "Celiac artery compression syndrome" EXACT [] synonym: "Harjola-Marable syndrome" EXACT [] synonym: "Marable's syndrome" EXACT [] xref: ICD10CM:I77.4 xref: ICD9CM:447.4 xref: MESH:D000074742 xref: SNOMEDCT_US_2023_03_01:9250002 xref: UMLS_CUI:C1861783 is_a: DOID:225 ! syndrome property_value: exactMatch "MESH:D000074742" xsd:string [Term] id: DOID:9893 name: periodontosis xref: ICD10CM:K05.4 xref: ICD9CM:523.5 xref: MESH:D010520 xref: UMLS_CUI:C0600298 is_a: DOID:1091 ! tooth disease [Term] id: DOID:9898 name: villonodular synovitis alt_id: DOID:10635 alt_id: DOID:10636 alt_id: DOID:10637 alt_id: DOID:10638 alt_id: DOID:10639 alt_id: DOID:10640 alt_id: DOID:10641 alt_id: DOID:9897 xref: ICD10CM:M12.20 xref: ICD9CM:719.2 xref: SNOMEDCT_US_2023_03_01:34671005 xref: UMLS_CUI:C0158168 is_a: DOID:381 ! arthropathy [Term] id: DOID:9899 name: obsolete glaucoma associated with tumors or cysts is_obsolete: true [Term] id: DOID:990 name: congenital heart block def: "An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22368629] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim xref: GARD:6164 xref: ICD10CM:Q24.6 xref: ICD9CM:746.86 xref: MESH:C535758 xref: MIM:234700 xref: SNOMEDCT_US_2023_03_01:156924006 xref: UMLS_CUI:C0149530 is_a: DOID:0050820 ! atrioventricular block is_a: DOID:0080015 ! physical disorder [Term] id: DOID:9900 name: obsolete protracted reactive paranoid psychosis synonym: "Psychogenic paranoid psychosis" EXACT [] is_obsolete: true [Term] id: DOID:9903 name: meibomian cyst def: "A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid." [url:http\://en.wikipedia.org/wiki/Chalazion] subset: NCIthesaurus synonym: "Chalazion" EXACT [] synonym: "meibomian gland lipogranuloma" EXACT [] xref: ICD10CM:H00.1 xref: ICD9CM:373.2 xref: MESH:D017043 xref: NCI:C26717 xref: SNOMEDCT_US_2023_03_01:155172004 xref: UMLS_CUI:C0007933 is_a: DOID:9423 ! blepharitis [Term] id: DOID:9905 name: follicular mucinosis subset: NCIthesaurus synonym: "Alopecia mucinosa" EXACT [] xref: ICD10CM:L65.2 xref: MESH:D000507 xref: NCI:C82859 xref: SNOMEDCT_US_2023_03_01:201150001 xref: UMLS_CUI:C0002173 is_a: DOID:9098 ! sebaceous gland disease [Term] id: DOID:9908 name: internal hordeolum subset: DO_infectious_disease_slim xref: ICD10CM:H00.02 xref: ICD9CM:373.12 xref: SNOMEDCT_US_2023_03_01:397514009 xref: UMLS_CUI:C0085690 is_a: DOID:9909 ! hordeolum [Term] id: DOID:9909 name: hordeolum def: "An eyelid disease that is characterized by an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection." [url:http\://en.wikipedia.org/wiki/Hordeolum] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "Boil of eyelid" EXACT [] synonym: "Furuncle of eyelid" EXACT [] synonym: "Hordeolum externum" EXACT [] synonym: "Stye" EXACT [] xref: ICD10CM:H00.01 xref: MESH:D006726 xref: NCI:C118722 xref: SNOMEDCT_US_2023_03_01:74612003 xref: UMLS_CUI:C0019917 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:530 ! eyelid disease [Term] id: DOID:9910 name: central corneal ulcer def: "A corneal ulcer that is characterized by ulceration and opacification of the central cornea and is caused by minor trauma and subsequent infection by bacterial or mycotic organisms." [url:https\://en.wikipedia.org/wiki/Corneal_ulcer] xref: ICD10CM:H16.01 xref: ICD9CM:370.03 xref: SNOMEDCT_US_2023_03_01:193761009 xref: UMLS_CUI:C0155069 is_a: DOID:8463 ! corneal ulcer [Term] id: DOID:9911 name: infected hydrocele xref: ICD10CM:N43.1 xref: ICD9CM:603.1 xref: SNOMEDCT_US_2023_03_01:11666007 xref: UMLS_CUI:C0156300 is_a: DOID:9912 ! hydrocele [Term] id: DOID:9912 name: hydrocele is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:9913 name: obsolete axillary metastasis synonym: "metastatic malignant tumor to the Axilla" EXACT [] is_obsolete: true [Term] id: DOID:9915 name: obsolete malignant neoplasm of ribs, sternum and clavicle synonym: "Ca ribs/sternum/clavicle" EXACT [] is_obsolete: true [Term] id: DOID:9916 name: obsolete secondary malignant neoplasm to the chest wall is_obsolete: true [Term] id: DOID:9919 name: obsolete malignant neoplasm of thoracic esophagus is_obsolete: true [Term] id: DOID:992 name: Omsk hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum." [url:http\://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/omsk.htm, url:http\://www.phac-aspc.gc.ca/msds-ftss/msds113e-eng.php, url:http\://www.springerlink.com/content/r2120r64x8x4511q/fulltext.pdf] subset: DO_infectious_disease_slim subset: DO_rare_slim subset: tick-borne_infectious_disease xref: GARD:8254 xref: ICD10CM:A98.1 xref: ICD9CM:065.1 xref: MESH:D006481 xref: SNOMEDCT_US_2023_03_01:48113006 xref: UMLS_CUI:C0019103 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9923 name: developmental coordination disorder def: "A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001533.htm] subset: NCIthesaurus xref: ICD10CM:F82 xref: ICD9CM:315.4 xref: MESH:D019957 xref: NCI:C92561 xref: SNOMEDCT_US_2023_03_01:27544004 xref: UMLS_CUI:C0011757 is_a: DOID:0060038 ! specific developmental disorder [Term] id: DOID:9925 name: obsolete hyperostosis frontalis interna is_obsolete: true [Term] id: DOID:9929 name: obsolete meningococcal meningitis subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:993 name: obsolete Flavivirus infectious disease def: "A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Flavivirus, which causes encephalitis or hemorrhagic fever in humans and transmitted_by arthropod vectors or transmitted_by contact with infected animal carcasses." [url:http\://en.wikipedia.org/wiki/Flavivirus] is_obsolete: true [Term] id: DOID:9930 name: obsolete primary Neisseriaceae infectious disease subset: gram-negative_bacterial_infectious_disease is_obsolete: true [Term] id: DOID:9931 name: Waterhouse-Friderichsen syndrome alt_id: DOID:12613 def: "An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland." [url:http\://en.wikipedia.org/wiki/Waterhouse-Friderichsen_syndrome, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=waterhouse] subset: DO_rare_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus synonym: "Meningococcal hemorrhagic adrenalitis" EXACT [] xref: GARD:9449 xref: MESH:D014884 xref: NCI:C85225 xref: SNOMEDCT_US_2023_03_01:267484005 xref: UMLS_CUI:C0043068 is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:9935 name: chronic inflammation of lacrimal passage def: "A lacrimal apparatus disease that is characterized by longstanding inflammation of the lacrimal passage, and has_symptom pain, increased or decreased tearing, and swelling between the eye and nose." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6856241] xref: ICD10CM:H04.4 xref: ICD9CM:375.4 xref: SNOMEDCT_US_2023_03_01:193990009 xref: UMLS_CUI:C0155239 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:9936 name: chronic canaliculitis xref: ICD10CM:H04.42 xref: ICD9CM:375.41 xref: SNOMEDCT_US_2023_03_01:26479009 xref: UMLS_CUI:C0155240 is_a: DOID:9935 ! chronic inflammation of lacrimal passage [Term] id: DOID:9937 name: chronic dacryocystitis xref: ICD10CM:H04.41 xref: ICD9CM:375.42 xref: SNOMEDCT_US_2023_03_01:193990009 xref: UMLS_CUI:C0149506 is_a: DOID:9938 ! dacryocystitis [Term] id: DOID:9938 name: dacryocystitis def: "An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923200/] subset: NCIthesaurus xref: ICD10CM:H04.30 xref: ICD9CM:375.30 xref: MESH:D003607 xref: NCI:C34521 xref: SNOMEDCT_US_2023_03_01:267738004 xref: UMLS_CUI:C0010930 is_a: DOID:6970 ! acute inflammation of lacrimal passage [Term] id: DOID:9939 name: dacryocystocele subset: NCIthesaurus synonym: "lacrimal mucocele" EXACT [] xref: ICD9CM:375.43 xref: NCI:C98968 xref: SNOMEDCT_US_2023_03_01:42758002 xref: UMLS_CUI:C0155241 is_a: DOID:9935 ! chronic inflammation of lacrimal passage [Term] id: DOID:9940 name: obsolete Congenital or acquired abnormality of vulva complicating pregnancy, childbirth, or the puerperium is_obsolete: true [Term] id: DOID:9942 name: lymph node disease subset: NCIthesaurus xref: NCI:C35346 xref: SNOMEDCT_US_2023_03_01:76616003 xref: UMLS_CUI:C0272394 is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:9943 name: obsolete syphilitic episcleritis subset: gram-negative_bacterial_infectious_disease subset: sexually_transmitted_infectious_disease is_obsolete: true [Term] id: DOID:9945 name: constant exophthalmos xref: ICD10CM:H05.24 xref: ICD9CM:376.31 xref: SNOMEDCT_US_2023_03_01:194015008 xref: UMLS_CUI:C0155267 is_a: DOID:930 ! orbital disease [Term] id: DOID:9946 name: steroid-induced glaucoma def: "A glaucoma characterized by elevated intraocular pressure secondary to chronic corticosteroid use, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Steroid-induced glaucoma is caused by chronic corticosteroid use." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577123/] synonym: "Corticosteroid-induced glaucoma" EXACT [] xref: ICD9CM:365.3 xref: SNOMEDCT_US_2023_03_01:1654001 xref: UMLS_CUI:C0339578 is_a: DOID:1686 ! glaucoma [Term] id: DOID:9948 name: residual stage corticosteroid-induced glaucoma xref: ICD9CM:365.32 xref: SNOMEDCT_US_2023_03_01:193549003 xref: UMLS_CUI:C0339580 is_a: DOID:9946 ! steroid-induced glaucoma [Term] id: DOID:9952 name: acute lymphoblastic leukemia alt_id: DOID:5600 def: "A acute leukemia that is characterized by over production of lymphoblasts." [url:http\://www.cancer.gov/dictionary?CdrID=46332] comment: Xref MGI. subset: DO_cancer_slim subset: DO_RAD_slim subset: DO_rare_slim subset: NCIthesaurus synonym: "acute lymphoblastic leukaemia" EXACT [] synonym: "acute lymphocytic leukaemia" EXACT [] synonym: "ALL" EXACT OMO:0003012 [] synonym: "precursor lymphoblastic lymphoma/leukemia" EXACT [] xref: EFO:0000220 xref: GARD:522 xref: ICD10CM:C91.00 xref: ICD9CM:204.0 xref: MIM:247640 xref: MIM:613065 xref: NCI:C3167 xref: NCI:C7055 xref: ORDO:513 xref: SNOMEDCT_US_2023_03_01:128822004 xref: UMLS_CUI:C0023449 xref: UMLS_CUI:C1335469 is_a: DOID:12603 ! acute leukemia [Term] id: DOID:9953 name: acute biphenotypic leukemia def: "An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29021517] subset: DO_cancer_slim subset: NCIthesaurus synonym: "mixed phenotype acute leukemia" EXACT [] xref: ICD10CM:C95.0 xref: ICDO:9805/3 xref: MESH:D015456 xref: NCI:C4673 xref: SNOMEDCT_US_2023_03_01:128818009 xref: UMLS_CUI:C0023464 is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma is_a: DOID:12603 ! acute leukemia [Term] id: DOID:9954 name: null-cell leukemia synonym: "Null cell acute lymphoblastic leukaemia" EXACT [] synonym: "Null cell acute lymphoblastic leukemia" EXACT [] synonym: "null-cell leukaemia" EXACT [] xref: SNOMEDCT_US_2023_03_01:277574007 xref: UMLS_CUI:C0023483 is_a: DOID:9952 ! acute lymphoblastic leukemia [Term] id: DOID:9955 name: hypoplastic left heart syndrome def: "A congenital heart disease characterized by abnormal development of the left-sided structures of the heart." [url:http\://en.wikipedia.org/wiki/Hypoplastic_left_heart_syndrome, url:http\://rarediseases.info.nih.gov/gard/6739/hypoplastic-left-heart-syndrome/resources/1, url:http\://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/hypoplastic_left_heart_syndrome.html] comment: Xref MGI.\nOMIM mapping confirmed by DO. [SN]. subset: DO_rare_slim subset: NCIthesaurus xref: GARD:6739 xref: ICD10CM:Q23.4 xref: ICD9CM:746.7 xref: MESH:D018636 xref: MIM:241550 xref: MIM:614435 xref: NCI:C98894 xref: ORDO:2248 xref: SNOMEDCT_US_2023_03_01:62067003 xref: UMLS_CUI:C0152101 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9957 name: periostitis alt_id: DOID:10894 alt_id: DOID:14496 alt_id: DOID:9956 def: "A connective tissue disease characterized by inflammation located_in the periosteum of the bone." [url:https\://en.wikipedia.org/wiki/Periostitis] xref: MESH:D010522 xref: SNOMEDCT_US_2023_03_01:41910004 xref: UMLS_CUI:C0031111 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:9958 name: hemometra def: "A uterine disease that is characterized by the presence of blood in the uterine cavity." [url:https\://en.wikipedia.org/wiki/Hematometra] synonym: "Hematometra" EXACT [] xref: ICD10CM:N85.7 xref: ICD9CM:621.4 xref: MESH:D006409 xref: SNOMEDCT_US_2023_03_01:38280009 xref: UMLS_CUI:C0018948 is_a: DOID:345 ! uterine disease [Term] id: DOID:9965 name: toxoplasmosis alt_id: DOID:13334 alt_id: DOID:13339 alt_id: DOID:13344 def: "A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia." [url:http\://en.wikipedia.org/wiki/Toxoplasmosis] subset: DO_infectious_disease_slim subset: NCIthesaurus synonym: "disseminated toxoplasmosis" EXACT [] xref: ICD10CM:B58 xref: ICD9CM:130 xref: MESH:D014123 xref: NCI:C3418 xref: SNOMEDCT_US_2023_03_01:266225001 xref: UMLS_CUI:C0040558 is_a: DOID:2113 ! coccidiosis [Term] id: DOID:9969 name: carotenemia def: "An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood." [url:https\://www.ncbi.nlm.nih.gov/books/NBK534878/] subset: NCIthesaurus synonym: "hypercarotinemia" EXACT [] xref: ICD10CM:E67.1 xref: ICD9CM:278.3 xref: MIM:115300 xref: NCI:C26963 xref: SNOMEDCT_US_2023_03_01:35487009 xref: UMLS_CUI:C0154271 is_a: DOID:0060158 ! acquired metabolic disease [Term] id: DOID:997 name: uterine inversion def: "A uterine disease that is characterized by the uterine cavity turning inside out as a complication of childbirth." [url:https\://en.wikipedia.org/wiki/Uterine_inversion] xref: ICD10CM:N85.5 xref: ICD9CM:665.2 xref: MESH:D019687 xref: SNOMEDCT_US_2023_03_01:156233003 xref: UMLS_CUI:C0162482 is_a: DOID:345 ! uterine disease property_value: exactMatch "MESH:D019687" xsd:string [Term] id: DOID:9970 name: obesity def: "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness." [url:https\://en.wikipedia.org/wiki/Obesity] comment: OMIM mapping confirmed by DO. [SN]. subset: DO_FlyBase_slim subset: NCIthesaurus xref: EFO:0001073 xref: ICD10CM:E66.9 xref: ICD9CM:278.00 xref: MESH:D009765 xref: MIM:601665 xref: NCI:C159658 xref: SNOMEDCT_US_2023_03_01:5476005 xref: UMLS_CUI:C0028754 is_a: DOID:654 ! overnutrition [Term] id: DOID:9971 name: hypervitaminosis D def: "An overnutrition that is characterized by elevated vitamin D, which can subsequently cause high levels of calcium, has_symptom myalgia, fatigue, irritability, nausea, dehydration, polyuria, and nephrocalcinosis, and possibly has_material_basis_in excess intake of vitamin D." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3191699/] xref: ICD10CM:E67.3 xref: ICD9CM:278.4 xref: SNOMEDCT_US_2023_03_01:190969000 xref: UMLS_CUI:C1442839 is_a: DOID:654 ! overnutrition [Term] id: DOID:9972 name: hypervitaminosis A def: "An overnutrition that is characterized by excess vitamin A, has_symptom hepatomegaly, anorexia, fever, alopecia, and arthralgia, and has_material_basis_in excessive intake of vitaimin A, and/or derangement of vitamin A metabolism." [url:https\://jamanetwork.com/journals/jamapediatrics/article-abstract/1181005, url:https\://medlineplus.gov/ency/article/000350.htm] xref: ICD10CM:E67.0 xref: ICD9CM:278.2 xref: MESH:D006986 xref: SNOMEDCT_US_2023_03_01:64559002 xref: UMLS_CUI:C0020579 is_a: DOID:654 ! overnutrition [Term] id: DOID:9973 name: substance dependence def: "A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Drug_dependence] subset: NCIthesaurus xref: NCI:C35458 xref: SNOMEDCT_US_2023_03_01:255338002 xref: UMLS_CUI:C0439857 is_a: DOID:303 ! substance-related disorder [Term] id: DOID:9974 name: drug dependence def: "A substance dependence that involves the continued use of drugs despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Drug_dependence] xref: ICD9CM:304.60 xref: SNOMEDCT_US_2023_03_01:191860009 xref: UMLS_CUI:C0029792 is_a: DOID:9973 ! substance dependence [Term] id: DOID:9975 name: cocaine dependence def: "A drug dependence that is a psychological dependency on the regular use of cocaine." [url:http\://en.wikipedia.org/wiki/Cocaine_dependence] subset: NCIthesaurus xref: ICD10CM:F14.2 xref: ICD9CM:304.2 xref: MESH:D019970 xref: NCI:C34492 xref: SNOMEDCT_US_2023_03_01:286934009 xref: UMLS_CUI:C0600427 is_a: DOID:9974 ! drug dependence [Term] id: DOID:9976 name: heroin dependence def: "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Opioid_dependence] subset: NCIthesaurus xref: MESH:D006556 xref: NCI:C34694 xref: SNOMEDCT_US_2023_03_01:191817000 xref: UMLS_CUI:C0019337 is_a: DOID:2559 ! opiate dependence [Term] id: DOID:9977 name: hallucinogen dependence def: "A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance." [url:http\://en.wikipedia.org/wiki/Hallucinogenic_drugs] subset: NCIthesaurus xref: ICD10CM:F16.2 xref: ICD9CM:304.5 xref: NCI:C34657 xref: SNOMEDCT_US_2023_03_01:191847003 xref: UMLS_CUI:C0018528 is_a: DOID:9974 ! drug dependence [Term] id: DOID:9978 name: acute female pelvic peritonitis subset: DO_infectious_disease_slim xref: ICD10CM:N73.3 xref: ICD9CM:614.5 xref: SNOMEDCT_US_2023_03_01:85051008 xref: UMLS_CUI:C0269032 is_a: DOID:1003 ! pelvic inflammatory disease [Term] id: DOID:998 name: eosinophilia-myalgia syndrome def: "A hypereosinophilic syndrome that is characterized by subacute onset of myalgias and peripheral eosinophilia, followed by chronic neuropathy and skin induration." [url:https\://rarediseases.org/rare-diseases/eosinophilia-myalgia-syndrome/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848710/] subset: DO_rare_slim synonym: "Eosinophilia myalgia syndrome" EXACT [] xref: GARD:6345 xref: ICD9CM:710.5 xref: MESH:D016603 xref: SNOMEDCT_US_2023_03_01:95416007 xref: UMLS_CUI:C0085179 is_a: DOID:999 ! hypereosinophilic syndrome [Term] id: DOID:9986 name: orbit lymphoma def: "An orbital cancer that has_material_basis_in some lymphocyte." [url:https\://en.wikipedia.org/wiki/Orbital_lymphoma] subset: DO_rare_slim subset: NCIthesaurus synonym: "Lymphoma of the orbit" EXACT [] xref: GARD:9719 xref: MESH:C537131 xref: NCI:C6244 xref: SNOMEDCT_US_2023_03_01:13048006 xref: UMLS_CUI:C0271333 is_a: DOID:0060058 ! lymphoma is_a: DOID:4143 ! orbital cancer [Term] id: DOID:9987 name: orbit sarcoma def: "An orbital cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm." [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6095] subset: NCIthesaurus synonym: "orbital sarcoma" EXACT [] xref: NCI:C6095 xref: SNOMEDCT_US_2023_03_01:699354006 xref: UMLS_CUI:C1335131 is_a: DOID:1115 ! sarcoma is_a: DOID:4143 ! orbital cancer [Term] id: DOID:9988 name: tertiary neurosyphilis def: "A tertiary syphilis that results in infection located in brain or located in spinal cord." [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000703.htm] subset: DO_infectious_disease_slim subset: gram-negative_bacterial_infectious_disease subset: NCIthesaurus subset: sexually_transmitted_infectious_disease synonym: "late neurosyphilis" EXACT [] xref: ICD10CM:A52.3 xref: ICD9CM:094 xref: MESH:D009494 xref: NCI:C84935 xref: SNOMEDCT_US_2023_03_01:154384001 xref: UMLS_CUI:C0027927 is_a: DOID:319 ! spinal cord disease is_a: DOID:8200 ! tertiary syphilis is_a: DOID:936 ! brain disease [Term] id: DOID:9989 name: obsolete metastasis to the orbit synonym: "metastatic tumor to the orbit" EXACT [] synonym: "secondary malignant neoplasm of orbit (disorder)" EXACT [] is_obsolete: true [Term] id: DOID:999 name: hypereosinophilic syndrome def: "A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs." [url:https\://en.wikipedia.org/wiki/Hypereosinophilic_syndrome, url:https\://www.mayoclinic.org/diseases-conditions/hypereosinophilic-syndrome/symptoms-causes/syc-20352854] subset: DO_rare_slim synonym: "eosinophilia" EXACT [] synonym: "Eosinophilic leukocytosis" EXACT [] xref: GARD:2804 xref: ICD10CM:D72.1 xref: ICD9CM:288.3 xref: MESH:D004802 xref: ORDO:168956 xref: SNOMEDCT_US_2023_03_01:418928000 xref: UMLS_CUI:C0014457 is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9993 name: hypoglycemia def: "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose." [url:https\://www.niddk.nih.gov/health-information/diabetes/overview/preventing-problems/low-blood-glucose-hypoglycemia] subset: NCIthesaurus synonym: "Hypoglycaemia" EXACT [] xref: ICD10CM:E16.2 xref: ICD9CM:251.2 xref: MESH:D007003 xref: NCI:C3126 xref: SNOMEDCT_US_2023_03_01:154691006 xref: UMLS_CUI:C0020615 is_a: DOID:4194 ! glucose metabolism disease [Term] id: DOID:9995 name: obsolete endocrine and metabolic disturbances specific to the fetus and newborn is_obsolete: true [Term] id: DOID:9997 name: peripartum cardiomyopathy alt_id: DOID:11697 alt_id: DOID:11980 def: "A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery." [url:https\://pubmed.ncbi.nlm.nih.gov/30575651/, url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/peripartum-cardiomyopathy] subset: DO_rare_slim subset: NCIthesaurus synonym: "antepartum peripartum cardiomyopathy" EXACT [] synonym: "postpartum peripartum cardiomyopathy" EXACT [] xref: GARD:220 xref: ICD10CM:O90.3 xref: ICD9CM:674.5 xref: NCI:C171602 xref: UMLS_CUI:C0877208 is_a: DOID:12930 ! dilated cardiomyopathy [Typedef] id: IDO:0000664 name: has material basis in def: "Relating the disease to it’s causation (disease and disorder)." [url:http\://purl.obolibrary.org/obo/IDO_0000664] [Typedef] id: RO:is_a name: is_a def: "Relation defining child to partent inheritance type." [url:http\://geneontology.org/docs/ontology-relations/, url:http\://purl.obolibrary.org/obo/rex#is_a]