format-version: 1.2 data-version: releases/2024-11-27/doid.obo date: 27:11:2024 11:40 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 "2024-11-27" 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\://www.cdc.gov/otherspottedfever/index.html, url:https\://pubmed.ncbi.nlm.nih.gov/7985764/] 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: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:https\://www.cdc.gov/swine-flu/about/index.html, 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:https\://en.wikipedia.org/wiki/Basidiobolomycosis] 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:https\://en.wikipedia.org/wiki/Conidiobolomycosis] 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:https\://dermnetnz.org/topics/skin-manifestations-of-systemic-mycoses] 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: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\://www.ninds.nih.gov/disorders/barth/barth.htm] 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: ORDO:111 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\://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] 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] synonym: "HHH syndrome" EXACT [] synonym: "Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome" EXACT [] xref: GARD:2830 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: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: GARD:3026 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:https\://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-019-0864-1] 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\://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:https\://en.wikipedia.org/wiki/Achalasia_microcephaly] subset: DO_rare_slim synonym: "Achalasia microcephaly" EXACT [] synonym: "ACHALASIA-MICROCEPHALY SYNDROME" EXACT [] xref: GARD:456 xref: MESH:C536010 xref: MIM:200450 xref: ORDO:929 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] 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:0051000 name: autoinflammatory disease def: "A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation." [url:https\://www.autoimmuneinstitute.org/articles/autoimmune-vs-autoinflammatory-disease/] is_a: DOID:612 ! primary immunodeficiency disease [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:https\://pubmed.ncbi.nlm.nih.gov/2509855/] 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] 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:https\://pubmed.ncbi.nlm.nih.gov/28584763/] 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\://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: "Miles-Carpenter syndrome" 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: "An autoinflammatory disease 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:0051000 ! autoinflammatory disease [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: "SSFS