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. en Human Disease Ontology 31:03:2025 22:43 disease_ontology 1.2 lschriml 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/). 2025-03-31 definition Formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007. definition source Formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007. url:http://purl.obolibrary.org/obo/iao.owl Has ontology root term. has_ontology_root_term Has ontology root term. url:http://purl.obolibrary.org/obo/IAO_0000700 Use on obsolete terms, relating the term to another term that can be used as a substitute. term replaced by Use on obsolete terms, relating the term to another term that can be used as a substitute. url:https://www.ebi.ac.uk/ols/ontologies/iao/properties?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FIAO_0100001 acronym DO_AGR_slim DO_AGR_slim DO_CFDE_slim DO_CFDE_slim DO_FlyBase_slim DO_FlyBase_slim DO_GXD_slim DO_GXD_slim DO_IEDB_slim DO_IEDB_slim DO_MGI_slim DO_MGI_slim DO_RAD_slim DO_RAD_slim DO_cancer_slim DO_cancer_slim DO_childhood_cancer_slim DO_childhood_cancer_slim DO_infectious_disease_slim DO_infectious_disease_slim DO_rare_slim DO_rare_slim GOLD GOLD NCIthesaurus NCIthesaurus TopNodes_DOcancerslim TopNodes_DOcancerslim gram-negative_bacterial_infectious_disease gram-negative_bacterial_infectious_disease gram-positive_bacterial_infectious_disease gram-positive_bacterial_infectious_disease sexually_transmitted_infectious_disease sexually_transmitted_infectious_disease tick-borne_infectious_disease tick-borne_infectious_disease zoonotic_infectious_disease zoonotic_infectious_disease dc:date Description. description Description. url:http://purl.org/dc/elements/1.1/description Title. title Title. url:http://purl.org/dc/elements/1.1/title The dc:type. dc:type The dc:type. url:http://purl.org/dc/elements/1.1/type License. license License. url:http://purl.org/dc/terms/license Subset property, name of subet. subset_property Subset property, name of subet. url:http://www.geneontology.org/formats/oboInOwl#SubsetProperty synonym_type_property auto-generated-by Author of the class. created_by Author of the class. url:http://www.geneontology.org/formats/oboInOwl#created_by Date class was created. creation_date Date class was created. url:http://www.geneontology.org/formats/oboInOwl#creation_date Date. date Date. url:http://purl.org/dc/elements/1.1/date Default namespace. default-namespace Default namespace. url:http://www.geneontology.org/formats/oboInOwl#default-namespace ID of merged class. has_alternative_id ID of merged class. url:http://www.geneontology.org/formats/oboInOwl#hasAlternativeId Broad synonym. has_broad_synonym Broad synonym. url:http://www.geneontology.org/formats/oboInOwl#hasBroadSynonym Reference database or publication source. database_cross_reference Reference database or publication source. url:http://www.geneontology.org/formats/oboInOwl#hasDbXref Exact synonym. has_exact_synonym Exact synonym. url:http://www.geneontology.org/formats/oboInOwl#hasExactSynonym Narrow synonym. has_narrow_synonym Narrow synonym. url:http://www.geneontology.org/formats/oboInOwl#hasNarrowSynonym Has OBO format version. has_obo_format_version Has OBO format version. url:http://www.geneontology.org/formats/oboInOwl#hasOBOFormatVersion Name space of the ontology. disease_ontology has_obo_namespace Name space of the ontology. url:http://www.geneontology.org/formats/oboInOwl#hasOBONamespace Has related synonym. has_related_synonym Has related synonym. url:http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym has_synonym_type An identifier is an information content entity that is the outcome of a dubbing process and is used to refer to one instance of entity shared by a group of people to refer to that individual entity. id An identifier is an information content entity that is the outcome of a dubbing process and is used to refer to one instance of entity shared by a group of people to refer to that individual entity. url:http://purl.obolibrary.org/obo/IAO_0020000 In subset. in_subset In subset. url:http://www.geneontology.org/formats/oboInOwl#inSubset Saved by. saved-by Saved by. url:http://www.geneontology.org/formats/oboInOwl#saved-by Comment. comment Comment. url:http://www.w3.org/2000/01/rdf-schema#comment Is defined by. rdfs:isDefinedBy Is defined by. url:http://www.w3.org/2000/01/rdf-schema#isDefinedBy A human readable name for this class. A human readable name for this class. url:http://www.w3.org/2000/01/rdf-schema#label url:https://www.w3.org/TR/owl-guide/ OWL deprecated. owl:deprecated OWL deprecated. url:http://www.w3.org/2002/07/owl#deprecated Version info. owl:versionInfo Version info. url:http://www.w3.org/2002/07/owl#versionInfo A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is broad and the xref is narrow (represents subtypes). has broader match A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is broad and the xref is narrow (represents subtypes). url:https://www.w3.org/2009/08/skos-reference/skos.html#broadMatch A skos concept mapping used to link two concepts that are sufficiently similar that they can be used interchangeably. has close match A skos concept mapping used to link two concepts that are sufficiently similar that they can be used interchangeably. url:https://www.w3.org/2009/08/skos-reference/skos.html#closeMatch A skos concept mapping used to link two concepts, indicating a high degree of confidence that the concepts can be used interchangeably. has exact match A skos concept mapping used to link two concepts, indicating a high degree of confidence that the concepts can be used interchangeably. url:https://www.w3.org/2009/08/skos-reference/skos.html#exactMatch A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is narrow (DO represents subtypes) and the xref is broad. has narrower match A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is narrow (DO represents subtypes) and the xref is broad. url:https://www.w3.org/2009/08/skos-reference/skos.html#narrowMatch A skos concept mapping used to state an associative mapping link between two concepts. has related match A skos concept mapping used to state an associative mapping link between two concepts. https://www.w3.org/2009/08/skos-reference/skos.html#relatedMatch Relating the disease to it’s causation (disease and disorder). has material basis in Relating the disease to it’s causation (disease and disorder). url:http://purl.obolibrary.org/obo/IDO_0000664 Relation defining child to partent inheritance type. disease_ontology is_a Relation defining child to partent inheritance type. url:http://geneontology.org/docs/ontology-relations/ url:http://purl.obolibrary.org/obo/rex#is_a A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. DOID:267 DOID:4508 ICDO:9120/3 MESH:D006394 NCI:C3088 NCI:C9275 SNOMEDCT_US_2023_03_01:39000009 UMLS_CUI:C0018923 UMLS_CUI:C0854893 hemangiosarcoma disease_ontology DOID:0001816 angiosarcoma 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 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. laronhughes 2010-06-30T02:44:30Z UMLS_CUI:C0033999 surfer's eye disease_ontology DOID:0002116 pterygium 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) A disease that involves errors in metabolic processes of building or degradation of molecules. ICD10CM:E88.9 ICD9CM:277.9 MESH:D008659 NCI:C3235 SNOMEDCT_US_2023_03_01:75934005 UMLS_CUI:C0025517 metabolic disease disease_ontology DOID:0014667 disease of metabolism A disease that involves errors in metabolic processes of building or degradation of molecules. url:http://www.ncbi.nlm.nih.gov/books/NBK22259/ A crustacean allergy that has_allergic_trigger shrimp. disease_ontology DOID:0040001 shrimp allergy A crustacean allergy that has_allergic_trigger shrimp. url:https://www.ncbi.nlm.nih.gov/pubmed/20471069 IEDB:RV A drug allergy that has_allergic_trigger acetylsalicylic acid. SNOMEDCT_US_2023_03_01:293586001 UMLS_CUI:C0004058 ASA allergy acetylsalicylic acid allergy disease_ontology DOID:0040002 aspirin allergy A drug allergy that has_allergic_trigger acetylsalicylic acid. url:https://www.ncbi.nlm.nih.gov/pubmed/2468301 IEDB:RV A beta-lactam allergy that has_allergic_trigger benzylpenicillin. SNOMEDCT_US_2023_03_01:294499007 UMLS_CUI:C0571411 benzyl penicillin allergy penicillin G allergy disease_ontology DOID:0040003 benzylpenicillin allergy A beta-lactam allergy that has_allergic_trigger benzylpenicillin. url:https://www.ncbi.nlm.nih.gov/pubmed/14483916 IEDB:RV A beta-lactam allergy that has_allergic_trigger amoxicillin. SNOMEDCT_US_2023_03_01:294505008 UMLS_CUI:C0571417 disease_ontology DOID:0040004 amoxicillin allergy A beta-lactam allergy that has_allergic_trigger amoxicillin. url:https://www.ncbi.nlm.nih.gov/pubmed/11746950 IEDB:RV A cephalosporin allergy that has_allergic_trigger ceftriaxone. SNOMEDCT_US_2023_03_01:294551009 UMLS_CUI:C0571463 rocephin allergy disease_ontology DOID:0040005 ceftriaxone allergy A cephalosporin allergy that has_allergic_trigger ceftriaxone. url:https://www.ncbi.nlm.nih.gov/pubmed/12833570 IEDB:RV A drug allergy that has_allergic_trigger carbamazepine. SNOMEDCT_US_2023_03_01:293867002 UMLS_CUI:C0570787 Tegretol allergy carbamazepen allergy disease_ontology DOID:0040006 carbamazepine allergy A drug allergy that has_allergic_trigger carbamazepine. url:https://www.ncbi.nlm.nih.gov/pubmed/7602118 IEDB:RV A drug allergy that has_allergic_trigger abacavir. ABC allergy disease_ontology DOID:0040007 abacavir allergy A drug allergy that has_allergic_trigger abacavir. url:https://www.ncbi.nlm.nih.gov/pubmed/25674793 IEDB:RV A drug allergy that has_allergic_trigger isoniazide. ICD10CM:Z88.1 INH allergy isonicotinylhydrazide allergy disease_ontology DOID:0040008 isoniazide allergy A drug allergy that has_allergic_trigger isoniazide. url:https://www.ncbi.nlm.nih.gov/pubmed/445303 IEDB:RV A drug allergy that has_allergic_trigger lidocaine. SNOMEDCT_US_2023_03_01:293722000 UMLS_CUI:C0570646 Lidoderm allergy lignocaine allergy xylocaine allergy disease_ontology DOID:0040009 lidocaine allergy A drug allergy that has_allergic_trigger lidocaine. url:https://www.ncbi.nlm.nih.gov/pubmed/9013953 IEDB:RV A drug allergy that has_allergic_trigger mepivacaine. ICD10CM:Z88.4 Carbocaine allergy Polocaine allergy disease_ontology DOID:0040010 mepivacaine allergy A drug allergy that has_allergic_trigger mepivacaine. url:https://www.ncbi.nlm.nih.gov/pubmed/9989796 IEDB:RV A drug allergy that has_allergic_trigger phenobarbital. SNOMEDCT_US_2023_03_01:293865005 UMLS_CUI:C0570785 Luminal allergy phenobarbitol allergy phenobarbitone allergy disease_ontology DOID:0040011 phenobarbital allergy A drug allergy that has_allergic_trigger phenobarbital. url:https://www.ncbi.nlm.nih.gov/pubmed/11994495 IEDB:RV A drug allergy that has_allergic_trigger phenytoin. SNOMEDCT_US_2023_03_01:293869004 UMLS_CUI:C0570789 Dilantin allergy disease_ontology DOID:0040012 phenytoin allergy A drug allergy that has_allergic_trigger phenytoin. url:https://www.ncbi.nlm.nih.gov/pubmed/7602118 IEDB:RV A drug allergy that has_allergic_trigger ranitidine. SNOMEDCT_US_2023_03_01:293653009 UMLS_CUI:C0570577 Zantac allergy disease_ontology DOID:0040013 ranitidine allergy A drug allergy that has_allergic_trigger ranitidine. url:https://www.ncbi.nlm.nih.gov/pubmed/7782125 IEDB:RV A drug allergy that has_allergic_trigger corticosteroid. disease_ontology DOID:0040014 corticosteroid allergy A drug allergy that has_allergic_trigger corticosteroid. url:https://www.ncbi.nlm.nih.gov/pubmed/2265088 IEDB:RV A drug allergy that has_allergic_trigger sulfonamide. SNOMEDCT_US_2023_03_01:91939003 UMLS_CUI:C0038757 disease_ontology DOID:0040015 sulfonamide allergy A drug allergy that has_allergic_trigger sulfonamide. url:https://www.ncbi.nlm.nih.gov/pubmed/2434548 IEDB:RV A drug allergy that has_allergic_trigger sulfamethoxazole. SMX allergy SMZ allergy sulphamethoxazole allergy disease_ontology DOID:0040016 sulfamethoxazole allergy A drug allergy that has_allergic_trigger sulfamethoxazole. url:https://www.ncbi.nlm.nih.gov/pubmed/7602118 IEDB:RV A drug allergy that has_allergic_trigger suprofen. Profenal allergy disease_ontology DOID:0040017 suprofen allergy A drug allergy that has_allergic_trigger suprofen. url:https://www.ncbi.nlm.nih.gov/pubmed/509935 IEDB:RV A drug allergy that has_allergic_trigger thiopental. SNOMEDCT_US_2023_03_01:293709008 UMLS_CUI:C0570633 penthiobarbital allergy pentothiobarbital allergy disease_ontology DOID:0040018 thiopental allergy A drug allergy that has_allergic_trigger thiopental. url:https://www.ncbi.nlm.nih.gov/pubmed/2215478 IEDB:RV A drug allergy that has_allergic_trigger D-mannitol. SNOMEDCT_US_2023_03_01:295019008 UMLS_CUI:C0571922 mannitol allergy disease_ontology DOID:0040019 D-mannitol allergy A drug allergy that has_allergic_trigger D-mannitol. url:https://www.ncbi.nlm.nih.gov/pubmed/15479277 IEDB:RV A cephalosporin allergy that has_allergic_trigger cefotaxime. SNOMEDCT_US_2023_03_01:294545004 UMLS_CUI:C0571457 disease_ontology DOID:0040020 cefotaxime allergy A cephalosporin allergy that has_allergic_trigger cefotaxime. url:https://www.ncbi.nlm.nih.gov/pubmed/12833570 IEDB:RV A drug allergy that has_allergic_trigger cephalosporin. SNOMEDCT_US_2023_03_01:294532003 UMLS_CUI:C0571444 disease_ontology DOID:0040021 cephalosporin allergy A drug allergy that has_allergic_trigger cephalosporin. url:https://www.ncbi.nlm.nih.gov/pubmed/2083978 IEDB:RV A drug allergy that has_allergic_trigger amodiaquine. SNOMEDCT_US_2023_03_01:294390007 UMLS_CUI:C0571303 Camoquin allergy Flavoquine allergy disease_ontology DOID:0040022 amodiaquine allergy A drug allergy that has_allergic_trigger amodiaquine. url:https://www.ncbi.nlm.nih.gov/pubmed/1959977 IEDB:RV A cephalosporin allergy that has_allergic_trigger cefaclor. SNOMEDCT_US_2023_03_01:294541008 UMLS_CUI:C0571453 Ceclor allergy cephaclor allergy disease_ontology DOID:0040023 cefaclor allergy A cephalosporin allergy that has_allergic_trigger cefaclor. url:https://www.ncbi.nlm.nih.gov/pubmed/12569987 IEDB:RV A cephalosporin allergy that has_allergic_trigger ceftazidime. SNOMEDCT_US_2023_03_01:294546003 UMLS_CUI:C0571458 Fortaz allergy Tazicef allergy disease_ontology DOID:0040024 ceftazidime allergy A cephalosporin allergy that has_allergic_trigger ceftazidime. url:https://www.ncbi.nlm.nih.gov/pubmed/12833570 IEDB:RV A cephalosporin allergy that has_allergic_trigger cefuroxime. SNOMEDCT_US_2023_03_01:294542001 UMLS_CUI:C0571454 Zinacef allergy cephuroxime allergy disease_ontology DOID:0040025 cefuroxime allergy A cephalosporin allergy that has_allergic_trigger cefuroxime. url:https://www.ncbi.nlm.nih.gov/pubmed/12833570 IEDB:RV A drug allergy that has_allergic_trigger chlorhexidine. SNOMEDCT_US_2023_03_01:294431008 UMLS_CUI:C0571344 disease_ontology DOID:0040026 chlorhexidine allergy A drug allergy that has_allergic_trigger chlorhexidine. url:https://www.ncbi.nlm.nih.gov/pubmed/10848923 IEDB:RV A drug allergy that has_allergic_trigger cyclophosphamide. SNOMEDCT_US_2023_03_01:293748008 UMLS_CUI:C0570670 cytophosphane allergy disease_ontology DOID:0040027 cyclophosphamide allergy A drug allergy that has_allergic_trigger cyclophosphamide. url:https://www.ncbi.nlm.nih.gov/pubmed/8024619 IEDB:RV A drug allergy that has_allergic_trigger succinylcholine. SNOMEDCT_US_2023_03_01:294224007 UMLS_CUI:C0571140 dicholine succinate allergy succinocholine allergy sux allergy suxamethonium allergy disease_ontology DOID:0040028 succinylcholine allergy A drug allergy that has_allergic_trigger succinylcholine. url:https://www.ncbi.nlm.nih.gov/pubmed/2410473 IEDB:RV A drug allergy that has_allergic_trigger trimethoprim. SNOMEDCT_US_2023_03_01:294477004 UMLS_CUI:C0571390 Primsol allergy TMP allergy proloprim allergy disease_ontology DOID:0040029 trimethoprim allergy A drug allergy that has_allergic_trigger trimethoprim. url:https://www.ncbi.nlm.nih.gov/pubmed/3377143 IEDB:RV A cephalosporin allergy that has_allergic_trigger cefixime. SNOMEDCT_US_2023_03_01:294548002 UMLS_CUI:C0571460 disease_ontology DOID:0040030 cefixime allergy A cephalosporin allergy that has_allergic_trigger cefixime. url:https://www.ncbi.nlm.nih.gov/pubmed/16867046 IEDB:RV A drug allergy that has_allergic_trigger diclofenac. SNOMEDCT_US_2023_03_01:293613006 UMLS_CUI:C0570540 Voltaren allergy disease_ontology DOID:0040031 diclofenac allergy A drug allergy that has_allergic_trigger diclofenac. url:https://www.ncbi.nlm.nih.gov/pubmed/21060839 IEDB:RV A drug allergy that has_allergic_trigger carbapenems. SNOMEDCT_US_2023_03_01:294531005 UMLS_CUI:C0571443 disease_ontology DOID:0040032 carbapenem allergy A drug allergy that has_allergic_trigger carbapenems. url:https://www.ncbi.nlm.nih.gov/pubmed/2457043 IEDB:RV A beta-lactam allergy that has_allergic_trigger piperacillin. SNOMEDCT_US_2023_03_01:294515002 UMLS_CUI:C0571427 disease_ontology DOID:0040033 piperacillin allergy A beta-lactam allergy that has_allergic_trigger piperacillin. url:https://www.ncbi.nlm.nih.gov/pubmed/21532862 IEDB:RV A drug allergy that has_allergic_trigger rocuronium. SNOMEDCT_US_2023_03_01:294233009 UMLS_CUI:C0571149 Esmeron allergy Zemuron allergy disease_ontology DOID:0040034 rocuronium allergy A drug allergy that has_allergic_trigger rocuronium. url:https://www.ncbi.nlm.nih.gov/pubmed/17667569 IEDB:RV A drug allergy that has_allergic_trigger sulfasalazine. SNOMEDCT_US_2023_03_01:293663001 UMLS_CUI:C0570587 disease_ontology DOID:0040035 sulfasalazine allergy A drug allergy that has_allergic_trigger sulfasalazine. url:https://www.ncbi.nlm.nih.gov/pubmed/2434548 IEDB:RV A drug allergy that has_allergic_trigger tubocurarine. SNOMEDCT_US_2023_03_01:294231006 UMLS_CUI:C0571147 DTC allergy disease_ontology DOID:0040036 tubocurarine allergy A drug allergy that has_allergic_trigger tubocurarine. url:https://www.ncbi.nlm.nih.gov/pubmed/2215478 IEDB:RV A beta-lactam allergy that has_allergic_trigger aztreonam. SNOMEDCT_US_2023_03_01:294565006 UMLS_CUI:C0571476 Azactam allergy Primbactam allergy disease_ontology DOID:0040037 aztreonam allergy A beta-lactam allergy that has_allergic_trigger aztreonam. url:https://www.ncbi.nlm.nih.gov/pubmed/1991925 IEDB:RV An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic. Merrem allergy disease_ontology DOID:0040038 meropenem allergy An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic. url:https://www.ncbi.nlm.nih.gov/pubmed/23668298 IEDB:RV An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate. allergic asthma to HDI allergic asthma to HMDI disease_ontology DOID:0040040 hexamethylene diisocyanate allergic asthma An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate. url:https://www.ncbi.nlm.nih.gov/pubmed/8711735 IEDB:RV An allergic asthma that has_allergic_trigger isocyanates. disease_ontology DOID:0040041 isocyanates allergic asthma An allergic asthma that has_allergic_trigger isocyanates. url:https://www.ncbi.nlm.nih.gov/pubmed/3349596 IEDB:RV An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate. allergic asthma to MDI disease_ontology DOID:0040042 diphenylmethane-4,4'-diisocyanate allergic asthma An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate. url:https://www.ncbi.nlm.nih.gov/pubmed/8711735 IEDB:RV An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate. allergic asthma to TDI disease_ontology DOID:0040043 toluene meta-diisocyanate allergic asthma An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate. url:https://www.ncbi.nlm.nih.gov/pubmed/11289402 IEDB:RV An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate. allergic asthma to MIC disease_ontology DOID:0040044 methyl isocyanate allergic asthma An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate. url:https://www.ncbi.nlm.nih.gov/pubmed/3622432 IEDB:RV An allergic asthma that has_allergic_trigger nickel atom. allergic asthma to Ni disease_ontology DOID:0040045 nickel allergic asthma An allergic asthma that has_allergic_trigger nickel atom. url:https://www.ncbi.nlm.nih.gov/pubmed/6691936 IEDB:RV An allergic contact dermatitis that has_allergic_trigger nickel atom. ICD10CM:L23.0 allergic contact dermatitis to Ni disease_ontology DOID:0040046 nickel allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger nickel atom. url:https://www.ncbi.nlm.nih.gov/pubmed/7671317 IEDB:RV An allergic asthma that has_allergic_trigger trimellitic anhydride. allergic asthma to TMA disease_ontology DOID:0040047 trimellitic anhydride allergic asthma An allergic asthma that has_allergic_trigger trimellitic anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/6643876 IEDB:RV An allergic asthma that has_allergic_trigger phthalic anhydride. disease_ontology DOID:0040048 phthalic anhydride allergic asthma An allergic asthma that has_allergic_trigger phthalic anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/3711550 IEDB:RV An allergic asthma that has_allergic_trigger maleic anhydride. allergic asthma to MA disease_ontology DOID:0040049 maleic anhydride allergic asthma An allergic asthma that has_allergic_trigger maleic anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/3711550 IEDB:RV An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride. disease_ontology DOID:0040050 tetrachlorophthalic anhydride allergic asthma An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/3711550 IEDB:RV An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride. allergic asthma to HHPA disease_ontology DOID:0040051 hexahydrophthalic anhydride allergic asthma An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/4008795 IEDB:RV An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate. allergic contact dermatitis to MDI disease_ontology DOID:0040052 diphenylmethane-4,4'-diisocyanate allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate. url:https://www.ncbi.nlm.nih.gov/pubmed/6296214 IEDB:RV An allergic contact dermatitis that has_allergic_trigger cobalt atom. allergic contact dermatitis to Co disease_ontology DOID:0040053 cobalt allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger cobalt atom. url:https://www.ncbi.nlm.nih.gov/pubmed/8566016 IEDB:RV An allergic asthma that has_allergic_trigger cobalt atom. Co allergic asthma disease_ontology DOID:0040054 cobalt allergic asthma An allergic asthma that has_allergic_trigger cobalt atom. url:https://www.ncbi.nlm.nih.gov/pubmed/7444839 IEDB:RV An allergic contact dermatitis that has_allergic_trigger palladium. allergic contact dermatitis to Pd disease_ontology DOID:0040055 palladium allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger palladium. url:https://www.ncbi.nlm.nih.gov/pubmed/25097477 IEDB:RV An allergic contact dermatitis that has_allergic_trigger chromium atom. ICD10CM:L23.0 disease_ontology DOID:0040056 chromium allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger chromium atom. url:https://www.ncbi.nlm.nih.gov/pubmed/1108802 IEDB:RV An allergic contact dermatitis that has_allergic_trigger benzoic acid. SNOMEDCT_US_2023_03_01:294186000 UMLS_CUI:C0571102 allergic contact dermatitis to benzoate disease_ontology DOID:0040057 benzoic acid allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger benzoic acid. url:https://www.ncbi.nlm.nih.gov/pubmed/25097477 IEDB:RV An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine. allergic contact dermatitis to PPD allergic contact dermatitis to p-phenylenediamine disease_ontology DOID:0040058 1,4-phenylenediamine allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine. url:https://www.ncbi.nlm.nih.gov/pubmed/8400900 IEDB:RV An allergic contact dermatitis that has_allergic_trigger potassium dichromate. disease_ontology DOID:0040059 potassium dichromate allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger potassium dichromate. url:https://www.ncbi.nlm.nih.gov/pubmed/15462465 IEDB:RV A photoallergic dermatitis that has_allergic_trigger ketoprofen. SNOMEDCT_US_2023_03_01:293621000 UMLS_CUI:C0570547 photoallergic dermatitis to Orudis disease_ontology DOID:0040060 ketoprofen photoallergic dermatitis A photoallergic dermatitis that has_allergic_trigger ketoprofen. url:https://www.ncbi.nlm.nih.gov/pubmed/11169173 IEDB:RV A respiratory allergy that has_allergic_trigger remazole black-GR. respiratory allergy to Reactive Black 5 disease_ontology DOID:0040061 remazole black respiratory allergy A respiratory allergy that has_allergic_trigger remazole black-GR. url:https://www.ncbi.nlm.nih.gov/pubmed/2312995 IEDB:RV A respiratory allergy that has_allergic_trigger chloramine T. respiratory allergy to Chloraseptin respiratory allergy to Chlorazol respiratory allergy to Trichlorol disease_ontology DOID:0040062 chloramine T respiratory allergy A respiratory allergy that has_allergic_trigger chloramine T. url:https://www.ncbi.nlm.nih.gov/pubmed/2758361 IEDB:RV A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide. respiratory allergy to vinyl cyclohexene diepoxide disease_ontology DOID:0040063 4-vinylcyclohexene dioxide respiratory allergy A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide. url:https://www.ncbi.nlm.nih.gov/pubmed/3356477 IEDB:RV An allergic contact dermatitis that has_allergic_trigger (-)-carvone. allergic contact dermatitis to levo-carvone disease_ontology DOID:0040064 carvone allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger (-)-carvone. url:https://www.ncbi.nlm.nih.gov/pubmed/11380545 IEDB:RV A drug allergy that has_allergic_trigger quinidine. SNOMEDCT_US_2023_03_01:294978001 UMLS_CUI:C0571881 Kinidin allergy disease_ontology DOID:0040065 quinidine allergy A drug allergy that has_allergic_trigger quinidine. url:https://www.ncbi.nlm.nih.gov/pubmed/445303 IEDB:RV A drug allergy that has_allergic_trigger melphalan. SNOMEDCT_US_2023_03_01:293751001 UMLS_CUI:C0570673 Alkeran allergy disease_ontology DOID:0040066 melphalan allergy A drug allergy that has_allergic_trigger melphalan. url:https://www.ncbi.nlm.nih.gov/pubmed/445303 IEDB:RV An allergic contact dermatitis that has_allergic_trigger neomycin sulfate. SNOMEDCT_US_2023_03_01:409640001 UMLS_CUI:C1443961 allergic contact dermatitis to neomycin sulphate disease_ontology DOID:0040067 neomycin sulfate allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger neomycin sulfate. url:https://www.ncbi.nlm.nih.gov/pubmed/21616561 IEDB:RV An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol. allergic contact dermatitis to PTBP allergic contact dermatitis to butylphen disease_ontology DOID:0040068 4-tert-butylphenol allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol. url:https://www.ncbi.nlm.nih.gov/pubmed/8462290 IEDB:RV An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene. allergic contact dermatitis to DNCB allergic contact dermatitis to dinitrochlorobenzene disease_ontology DOID:0040069 1-chloro-2,4-dinitrobenzene allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene. url:https://www.ncbi.nlm.nih.gov/pubmed/17008874 IEDB:RV A drug allergy that has_allergic_trigger co-trimoxazole. SNOMEDCT_US_2023_03_01:294594004 UMLS_CUI:C0571504 Bactrim allergy TMP/SMX allergy cotrimoxazol allergy trimethoprim/sulfamethoxazole allergy disease_ontology DOID:0040070 co-trimoxazole allergy A drug allergy that has_allergic_trigger co-trimoxazole. url:https://www.ncbi.nlm.nih.gov/pubmed/445303 IEDB:RV A drug allergy that has_allergic_trigger sodium aurothiomalate. SNOMEDCT_US_2023_03_01:294239008 UMLS_CUI:C0571155 gold sodium thiomalate allergy disease_ontology DOID:0040071 sodium aurothiomalate allergy A drug allergy that has_allergic_trigger sodium aurothiomalate. url:https://www.ncbi.nlm.nih.gov/pubmed/445303 IEDB:RV An allergic contact dermatitis that has_allergic_trigger parthenolide. allergic contact dermatitis to feverfew disease_ontology DOID:0040072 parthenolide allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger parthenolide. url:https://www.ncbi.nlm.nih.gov/pubmed/17986299 IEDB:RV A drug allergy that has_allergic_trigger disodium cromoglycate. DSCG allergy disease_ontology DOID:0040073 disodium cromoglycate allergy A drug allergy that has_allergic_trigger disodium cromoglycate. url:https://www.ncbi.nlm.nih.gov/pubmed/3128591 IEDB:RV An allergic contact dermatitis that has_allergic_trigger formaldehyde. SNOMEDCT_US_2023_03_01:294426006 UMLS_CUI:C0571339 allergic contact dermatitis to formalin disease_ontology DOID:0040074 formaldehyde allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger formaldehyde. url:https://www.ncbi.nlm.nih.gov/pubmed/7902023 IEDB:RV An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one. allergic contact dermatitis to BIT allergic contact dermatitis to benzisothiazolone disease_ontology DOID:0040075 benzo[d]isothiazol-3-one allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one. url:https://www.ncbi.nlm.nih.gov/pubmed/6446435 IEDB:RV A drug allergy that has_allergic_trigger phthalyl group. SNOMEDCT_US_2023_03_01:294571000 UMLS_CUI:C0571482 phthalyl allergy disease_ontology DOID:0040076 phthalyl group allergy A drug allergy that has_allergic_trigger phthalyl group. url:https://www.ncbi.nlm.nih.gov/pubmed/7400667 IEDB:RV A drug allergy that has_allergic_trigger alcuronium bromide. disease_ontology DOID:0040077 alcuronium bromide allergy A drug allergy that has_allergic_trigger alcuronium bromide. url:https://www.ncbi.nlm.nih.gov/pubmed/2215478 IEDB:RV A drug allergy that has_allergic_trigger gallamine. SNOMEDCT_US_2023_03_01:294229002 UMLS_CUI:C0571145 disease_ontology DOID:0040078 gallamine allergy A drug allergy that has_allergic_trigger gallamine. url:https://www.ncbi.nlm.nih.gov/pubmed/2215478 IEDB:RV An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group. allergic contact dermatitis to DNP disease_ontology DOID:0040079 2,4-dinitrophenyl allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group. url:https://www.ncbi.nlm.nih.gov/pubmed/17008874 IEDB:RV A drug allergy that has_allergic_trigger patent blue V. disease_ontology DOID:0040080 patent blue V allergy A drug allergy that has_allergic_trigger patent blue V. url:https://www.ncbi.nlm.nih.gov/pubmed/19804438 IEDB:RV A respiratory allergy that has_allergic_trigger acid anhydride. disease_ontology DOID:0040081 acid anhydride respiratory allergy A respiratory allergy that has_allergic_trigger acid anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/6643876 IEDB:RV A drug allergy that has_allergic_trigger oxirane. ETO allergy ethylene oxide allergy disease_ontology DOID:0040082 oxirane allergy A drug allergy that has_allergic_trigger oxirane. url:https://www.ncbi.nlm.nih.gov/pubmed/3932500 IEDB:RV A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae. ICD10CM:J16.0 ICD9CM:483.1 disease_ontology DOID:0040083 Chlamydia pneumonia A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae. url:https://www.ncbi.nlm.nih.gov/pubmed/16831205 IEDB:RV A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. ICD10CM:J13 ICD9CM:481 disease_ontology DOID:0040084 Streptococcus pneumonia A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. url:https://www.ncbi.nlm.nih.gov/pubmed/26396191 IEDB:RV A bacterial infectious disease has_material_basis_in Bacteria. ICD9CM:995.91 SNOMEDCT_US_2021_09_01:10001005 disease_ontology DOID:0040085 bacterial sepsis A bacterial infectious disease has_material_basis_in Bacteria. url:https://www.ncbi.nlm.nih.gov/pubmed/20421654 IEDB:RV A viral infectious disease has_material_basis_in BK polyomavirus. SNOMEDCT_US_2023_03_01:713886006 UMLS_CUI:C1697878 PVAN polyomavirus associated nephropathy disease_ontology DOID:0040086 Polyomavirus-associated nephropathy A viral infectious disease has_material_basis_in BK polyomavirus. url:https://www.ncbi.nlm.nih.gov/pubmed/16537617 IEDB:RV PVAN An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. disease_ontology DOID:0040087 autoimmune peripheral neuropathy An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. url:https://www.ncbi.nlm.nih.gov/pubmed/7693874 IEDB:RV An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea. disease_ontology DOID:0040088 autoimmune uveitis An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea. url:https://www.ncbi.nlm.nih.gov/pubmed/12938234 IEDB:RV An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain. disease_ontology DOID:0040089 autoimmune optic neuritis 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 IEDB:RV An autoimmune disease of gastrointestinal tract that is located_in the stomach. disease_ontology DOID:0040090 autoimmune gastritis An autoimmune disease of gastrointestinal tract that is located_in the stomach. url:https://www.ncbi.nlm.nih.gov/pubmed/12645953 IEDB:RV An autoimmune disease of endocrine system that is located_in the pancreas. MESH:D000081012 SNOMEDCT_US_2023_03_01:448542008 UMLS_CUI:C2609129 disease_ontology DOID:0040091 autoimmune pancreatitis MESH:D000081012 An autoimmune disease of endocrine system that is located_in the pancreas. url:https://www.ncbi.nlm.nih.gov/pubmed/19940298 IEDB:RV An ankylosing spondylitis with onset during childhood. ICD10CM:M08.1 SNOMEDCT_US_2023_03_01:201802002 UMLS_CUI:C0409675 disease_ontology DOID:0040092 juvenile ankylosing spondylitis An ankylosing spondylitis with onset during childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/7541736 IEDB:RV A lupus erythematosus caused by chronic use of certain drugs. ICD10CM:M32.0 NCI:C114354 ORDO:231111 SNOMEDCT_US_2023_03_01:80258006 UMLS_CUI:C0263591 DIL DILE disease_ontology DOID:0040093 drug-induced lupus erythematosus A lupus erythematosus caused by chronic use of certain drugs. url:https://www.ncbi.nlm.nih.gov/pubmed/1378852 IEDB:RV DIL DILE An autoimmune disease of urogenital tract that is located_in the renal glomerulus. DOID:0050146 disease_ontology DOID:0040094 autoimmune glomerulonephritis An autoimmune disease of urogenital tract that is located_in the renal glomerulus. url:https://www.ncbi.nlm.nih.gov/pubmed/8809141 IEDB:RV An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle. disease_ontology DOID:0040095 autoimmune cardiomyopathy 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 IEDB:RV An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries. disease_ontology DOID:0040096 autoimmune atherosclerosis 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 IEDB:RV An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels. SNOMEDCT_US_2023_03_01:427213005 UMLS_CUI:C1328843 disease_ontology DOID:0040097 autoimmune vasculitis An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels. url:https://www.ncbi.nlm.nih.gov/pubmed/23549081 IEDB:RV A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180. ICD10CM:O26.4 disease_ontology DOID:0040098 pemphigus gestationis 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 IEDB:RV A vasculitis with purpuric ulcers. ICD10CM:L95.0 ICD9CM:709.1 livedoid vasculopathy disease_ontology DOID:0040099 livedoid vasculitis A vasculitis with purpuric ulcers. url:https://www.ncbi.nlm.nih.gov/pubmed/10925314 IEDB:RV An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin. SNOMEDCT_US_2023_03_01:408539000 UMLS_CUI:C0854359 insulin autoimmune syndrome disease_ontology DOID:0040100 Hirata disease An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin. url:https://www.ncbi.nlm.nih.gov/pubmed/10445096 IEDB:RV An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea. disease_ontology neoprene allergy DOID:0040101 N,N'-diphenylthiourea allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea. url:https://www.ncbi.nlm.nih.gov/pubmed/28295200 IEDB:RV An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea. disease_ontology neoprene allergy DOID:0040102 N,N'-diethylthiourea allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea. url:https://www.ncbi.nlm.nih.gov/pubmed/28295200 IEDB:RV A cephalosporin allergy that has_allergic_trigger cefotiam. disease_ontology DOID:0040103 cefotiam allergy A cephalosporin allergy that has_allergic_trigger cefotiam. url:https://www.ncbi.nlm.nih.gov/pubmed/28543395 IEDB:RV A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. disease_ontology DOID:0040104 toluene 2,4-diisocyanate allergic asthma A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194110/ IEDB:RV disease_ontology DOID:0050001 obsolete Actinomadura madurae infectious disease true disease_ontology DOID:0050002 obsolete Actinomadura pelletieri infectious disease true disease_ontology DOID:0050003 obsolete Streptomyces somaliensis infectious disease true 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. SNOMEDCT_US_2023_03_01:301990003 UMLS_CUI:C0578661 disease_ontology DOID:0050004 seminal vesicle acute gonorrhea 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 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. disease_ontology DOID:0050007 obsolete cutaneous strongyloidiasis true A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis. disease_ontology DOID:0050009 obsolete intestinal strongyloidiasis true 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 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. disease_ontology DOID:0050010 obsolete Mansonella perstans infectious disease true 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 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. disease_ontology DOID:0050011 obsolete Mansonella streptocerca infectious disease true 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 A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus (Alphavirus chikungunya), which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. GARD:6038 Chikungunya fever disease_ontology DOID:0050012 chikungunya A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus (Alphavirus chikungunya), 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 url:https://www.cdc.gov/chikungunya/about/ An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism. disease_ontology DOID:0050013 obsolete carbohydrate metabolism disease true An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism. url:http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html 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. disease_ontology EHD DOID:0050014 obsolete epizootic hemorrhagic disease true 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 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. disease_ontology DOID:0050015 obsolete Rocio virus encephalitis true 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 disease_ontology DOID:0050024 obsolete Ehrlichia ewingii ehrlichiosis true 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. DOID:0050021 DOID:0050022 human granulocytic ehrlichiosis disease_ontology HGE DOID:0050025 human granulocytic anaplasmosis 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 HGE 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. DOID:14091 GARD:72 disease_ontology Ehrlichiosis chafeensis DOID:0050026 human monocytic ehrlichiosis 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/ An acquired metabolic disease that is characterized by abnormal mineral metabolism. disease_ontology DOID:0050032 mineral metabolism disease An acquired metabolic disease that is characterized by abnormal mineral metabolism. url:http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html 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. DOID:0050034 DOID:0050036 Rickettsia africae spotted fever south african tick-bite fever disease_ontology DOID:0050035 African tick-bite fever 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 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. disease_ontology DOID:0050041 Astrakhan spotted fever 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/ 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. disease_ontology DOID:0050042 Indian tick typhus 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 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. disease_ontology Israeli spotted fever DOID:0050043 Israeli tick typhus 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 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. Rickettsia heilongjiangensis spotted fever disease_ontology DOID:0050046 Far Eastern spotted fever 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 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. DOID:0050048 Thai tick typhus disease_ontology FISF DOID:0050047 Flinders Island spotted fever 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 FISF 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. DOID:0050049 Rickettsia japonica spotted fever oriental spotted fever disease_ontology DOID:0050050 Japanese spotted fever 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 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. maculatum infection disease_ontology DOID:0050051 Rickettsia parkeri spotted fever 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 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. DOID:0050056 DOID:1708 GARD:7585 MESH:D012373 Tick typhus disease_ontology Brazilian spotted Choix Exanthematic typhus of Sao Paulo Fiebre maculosa Fiebre manchada Sao Paulo typhus So Paulo fever Tobia fever DOID:0050052 Rocky Mountain spotted fever 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 disease_ontology DOID:0050053 obsolete Rickettsia honei spotted fever true 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. disease_ontology DOID:0050059 oropharyngeal anthrax 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 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. MESH:D004887 disease_ontology DOID:0050061 erysipeloid 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 disease_ontology DOID:0050063 obsolete abortive plague true disease_ontology DOID:0050065 obsolete cutaneous listeriosis true disease_ontology DOID:0050066 obsolete Listeria meningoencephalitis true disease_ontology DOID:0050067 obsolete Listeria septicaemia true 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. disease_ontology DOID:0050068 obsolete pestis minor true disease_ontology DOID:0050069 obsolete Yersinia pestis infectious disease true disease_ontology DOID:0050070 obsolete plague meningitis true 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. MESH:C000656784 disease_ontology DOID:0050072 adiaspiromycosis 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 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. disease_ontology DOID:0050073 invasive aspergillosis 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 An aspergillosis that involves fungal infection of the tonsils by Aspergillus species. disease_ontology DOID:0050074 obsolete tonsillar aspergillosis true An aspergillosis that involves fungal infection of the tonsils by Aspergillus species. url:https://www.ncbi.nlm.nih.gov/pubmed/792373 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. DOID:0050076 DOID:0050077 disease_ontology DOID:0050075 obsolete pulmonary blastomycosis true disease_ontology DOID:0050078 obsolete cervix tuberculosis true disease_ontology DOID:0050079 obsolete niacin deficiency true disease_ontology DOID:0050080 obsolete iodine deficiency true A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion. DOID:0050081 TT virus liver infection Transfussion-transmitted virus liver infection disease_ontology human circovirus infectious disease DOID:0050082 obsolete hepatic Torque teno virus infectious disease true A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency. GARD:8761 MESH:C536166 disease_ontology DOID:0050083 Keshan disease A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency. url:https://en.wikipedia.org/wiki/Keshan_disease 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. Feline viral rhinotracheitis feline coryza feline influenza disease_ontology DOID:0050084 Not a human disease. obsolete rhinotracheitis true 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:https://www.merriam-webster.com/medical/rhinotracheitis A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales. disease_ontology DOID:0050085 obsolete entomophthoromycosis true 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 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. disease_ontology DOID:0050086 obsolete cutaneous mucormycosis true 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 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. disease_ontology DOID:0050088 obsolete gastrointestinal mucormycosis true 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 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. disease_ontology DOID:0050089 obsolete pulmonary mucormycosis true 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 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. disease_ontology DOID:0050090 obsolete rhinocerebral mucormycosis true 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 A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis. disease_ontology DOID:0050091 obsolete disseminated paracoccidioidomycosis true 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/ 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. disease_ontology DOID:0050092 obsolete pulmonary paracoccidioidomycosis true 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/ A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus. disease_ontology DOID:0050093 obsolete disseminated sporotrichosis true 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 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. disease_ontology DOID:0050094 obsolete lymphocutaneous sporotrichosis true 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/ 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. disease_ontology DOID:0050095 obsolete pulmonary sporotrichosis true 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 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. MESH:C000656825 dermatophytosis of beard disease_ontology DOID:0050096 tinea barbae 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 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. disease_ontology DOID:0050097 ectothrix infectious disease 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 An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii. disease_ontology DOID:0050098 obsolete Microsporum audouinii tinea capitis true 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 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. disease_ontology DOID:0050099 obsolete Microsporum canis tinea capitis true 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 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. disease_ontology DOID:0050100 obsolete Microsporum distortum tinea capitis true 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 An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum. disease_ontology DOID:0050101 obsolete Microsporum ferrugineum tinea capitis true 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 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. disease_ontology DOID:0050102 obsolete Microsporum gypseum tinea capitis true 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 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. disease_ontology DOID:0050103 obsolete Microsporum nanum tinea capitis true 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 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. disease_ontology DOID:0050104 obsolete Trichophyton verrucosum tinea capitis true 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 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. disease_ontology DOID:0050105 endothrix infectious disease 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/ An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense. disease_ontology DOID:0050106 obsolete Trichophyton soudanense tinea capitis true 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 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. disease_ontology DOID:0050107 obsolete Trichophyton tonsurans tinea capitis true 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 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. disease_ontology DOID:0050108 obsolete Trichophyton violaceum tinea capitis true 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 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. disease_ontology DOID:0050110 obsolete Trichophyton schoenleinii tinea capitis true 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 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. disease_ontology DOID:0050111 obsolete Microsporum fulvum tinea capitis true 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 An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii. disease_ontology DOID:0050112 obsolete Trichophyton megninii tinea capitis true 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 An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum. disease_ontology DOID:0050113 obsolete Trichophyton equinum tinea capitis true 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 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. disease_ontology DOID:0050115 obsolete Trichophyton yaoundei tinea capitis true 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 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. disease_ontology DOID:0050116 tinea imbricata 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 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. infectious disease DOID:10115 DOID:11078 DOID:1304 DOID:1321 DOID:2040 DOID:2288 DOID:3099 DOID:4120 DOID:4620 DOID:5256 DOID:945 DOID:95 DOID:9532 DOID:9696 ICD9CM:079.0 UMLS_CUI:C0001485 infectious disease disease_ontology DOID:0050117 DO:wk disease by infectious agent 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 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. DOID:10840 ICD10CM:A83.5 ICD9CM:062.5 MESH:D004670 SNOMEDCT_US_2023_03_01:69627004 UMLS_CUI:C0014053 California Encephalitis California virus encephalitis Neuroinvasive California encephalitis virus infection disease_ontology DOID:0050118 La Crosse encephalitis 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 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. WNND WNNS West nile neuroinvasive disease disease_ontology DOID:0050119 obsolete West Nile virus neurological syndrome true 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 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. DOID:6453 GARD:6589 ICD10CM:D76.1 MESH:D051359 MIM:PS267700 NCI:C34792 ORDO:540 SNOMEDCT_US_2023_03_01:190958003 UMLS_CUI:C0024291 haemophagocytic syndrome disease_ontology DOID:0050120 Xref MGI. MESH:C537250 added from NeuroDevNet [WAK]. hemophagocytic lymphohistiocytosis 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 disease_ontology DOID:0050123 obsolete tuberculous encephalitis true A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus (Orthoflavivirus denguei), 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. DSS disease_ontology DOID:0050125 dengue shock syndrome A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus (Orthoflavivirus denguei), 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 url:https://pmc.ncbi.nlm.nih.gov/articles/PMC3097561/ DSS 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. valtice fever disease_ontology Tahyna virus infection DOID:0050126 obsolete Tahyna virus encephalitis true 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/ 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. DOID:2052 DOID:9564 ICD10CM:J01 ICD9CM:461 NCI:C128411 SNOMEDCT_US_2023_03_01:195649005 UMLS_CUI:C0149512 disease_ontology DOID:0050127 sinusitis 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 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. disease_ontology DOID:0050129 secretory diarrhea 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 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. disease_ontology DOID:0050130 osmotic diarrhea 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 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. disease_ontology DOID:0050131 motility-related diarrhea 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 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. disease_ontology DOID:0050132 inflammatory diarrhea 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 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. DOID:13370 ICD10CM:B36.9 MESH:D010854 SNOMEDCT_US_2023_03_01:266218008 SNOMEDCT_US_2023_03_01:47382004 UMLS_CUI:C0031898 UMLS_CUI:C2980104 Steroid-modified tinea infection piedra disease_ontology DOID:0050133 Adding a UMLS CUI for piedra C2980104. superficial mycosis 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/ 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. disease_ontology DOID:0050134 cutaneous mycosis 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 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. disease_ontology DOID:0050135 subcutaneous mycosis 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 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. disease_ontology DOID:0050136 systemic mycosis 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 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. MESH:D004604 disease_ontology DOID:0050138 podoconiosis 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 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. disease_ontology DOID:0050139 obsolete Opisthorchis felineus infectious disease true 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 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. disease_ontology DOID:0050140 acute diarrhea 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 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. disease_ontology DOID:0050141 intestinal botulism 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 A dengue disease that results_in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. disease_ontology DOID:0050143 asymptomatic dengue A dengue disease that results_in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), 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/ A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. GARD:6815 MESH:D007619 NCI:C84797 ORDO:98861 SNOMEDCT_US_2021_09_01:42402006 Kartagener's syndrome disease_ontology DOID:0050144 Kartagener syndrome 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 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. DOID:13750 ICD10CM:J35.02 ICD9CM:474.01 SNOMEDCT_US_2023_03_01:195794009 UMLS_CUI:C0396023 chronic adenoiditis disease_ontology DOID:0050145 adenoiditis 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 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. MESH:D059249 Singapore ear disease_ontology DOID:0050147 otomycosis 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:https://www.merriam-webster.com/medical/otomycosis An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. DOID:11795 DOID:9390 ICD10CM:J04 ICD10CM:J37.1 ICD9CM:464 ICD9CM:476.1 SNOMEDCT_US_2023_03_01:276443001 SNOMEDCT_US_2023_03_01:83271005 UMLS_CUI:C0155811 UMLS_CUI:C0155837 disease_ontology DOID:0050148 laryngotracheitis 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:https://www.merriam-webster.com/medical/laryngotracheitis A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. disease_ontology DOID:0050150 Pontiac fever 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 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. disease_ontology DOID:0050151 obsolete tracheobronchial tuberculosis true 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 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. ICD10CM:J69.0 MESH:D011015 SNOMEDCT_US_2023_03_01:47839005 UMLS_CUI:C0032290 disease_ontology DOID:0050152 aspiration pneumonia 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 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. disease_ontology DOID:0050153 pulmonary aspergilloma 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 A bacterial pneumonia caused by the genus Mycoplasma. disease_ontology DOID:0050154 obsolete mycoplasmal pneumonia true A bacterial pneumonia caused by the genus Mycoplasma. url:http://en.wikipedia.org/wiki/Mycoplasma 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). disease_ontology DOID:0050155 sensory system disease 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 A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. EFO:0000768 GARD:8609 ICD10CM:J84.112 ICD9CM:516.31 MESH:D054990 NCI:C35716 SNOMEDCT_US_2023_03_01:28168000 UMLS_CUI:C1800706 FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis disease_ontology DOID:0050156 OMIM mapping confirmed by DO. [SN]. idiopathic pulmonary fibrosis 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 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. DOID:2798 GARD:1620 ICD10CM:J84.116 ICD9CM:516.36 MESH:D018549 NCI:C62586 SNOMEDCT_US_2023_03_01:129458007 UMLS_CUI:C0242770 BOOP Cryptogenic organising pneumonitis Cryptogenic organizing pneumonitis bronchiolitis obliterans organising pneumonia bronchiolitis obliterans organizing pneumonia cryptogenic organising pneumonia idiopathic bronchiolitis obliterans with organising pneumonia idiopathic bronchiolitis obliterans with organizing pneumonia disease_ontology DOID:0050157 cryptogenic organizing pneumonia 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 BOOP 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. DOID:2796 ICD10CM:J84.117 ICD9CM:516.37 MESH:C562470 MIM:263000 NCI:C35288 SNOMEDCT_US_2023_03_01:8549006 UMLS_CUI:C0238378 RBILD familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease disease_ontology DOID:0050158 OMIM mapping confirmed by DO. [SN]. desquamative interstitial pneumonia 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 RBILD 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. MESH:C562489 disease_ontology DOID:0050159 lymphoid interstitial pneumonia 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 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. MESH:C571912 pulmonary anthrax respiratory anthrax wool-sorters' disease woolsorters' disease disease_ontology DOID:0050160 inhalation anthrax 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 A respiratory system disease which involves the lower respiratory tract. ICD9CM:478.19 SNOMEDCT_US_2023_03_01:195823002 UMLS_CUI:C0029581 disease_ontology DOID:0050161 lower respiratory tract disease A respiratory system disease which involves the lower respiratory tract. url:http://en.wikipedia.org/wiki/lower_respiratory_tract disease_ontology DOID:0050162 obsolete influenza encephalopathy true disease_ontology DOID:0050163 obsolete influenza myocarditis true disease_ontology DOID:0050164 obsolete influenza myositis true 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. disease_ontology DOID:0050165 obsolete tuberculous mesenteric gland true 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 An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. ICD10CM:A18.17 ICD9CM:016.6 SNOMEDCT_US_2023_03_01:186242002 UMLS_CUI:C0152828 disease_ontology DOID:0050166 tuberculous salpingitis 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 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. GARD:8466 MIM:240300 Autoimmune Polyglandular Syndrome I Whitaker syndrome autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy disease_ontology DOID:0050167 autoimmune polyendocrine syndrome type 1 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 sn:IEDB 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. GARD:7611 MIM:269200 Schmidt syndrome disease_ontology DOID:0050168 autoimmune polyendocrine syndrome type 2 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 sn:IEDB A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. GARD:6225 disease_ontology DOID:0050169 cutaneous lupus erythematosus 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/ sn:IEDB 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. disease_ontology DOID:0050170 obsolete Jamestown Canyon encephalitis true 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 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. disease_ontology DOID:0050171 obsolete snowshoe hare encephalitis true 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 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. disease_ontology DOID:0050172 obsolete trivittatus encephalitis true 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 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. disease_ontology DOID:0050173 obsolete inkoo encephalitis true 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 A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus (Orthoflavivirus nilense), 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. disease_ontology DOID:0050174 Kunjin encephalitis A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus (Orthoflavivirus nilense), 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:https://pubmed.ncbi.nlm.nih.gov/2552010/ url:https://www.health.nsw.gov.au/Infectious/factsheets/Pages/kunjin_virus.aspx A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus (Orthoflavivirus encephalitidis), which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. DOID:0050176 DOID:10251 DOID:10252 GARD:5216 ICD10CM:A84.1 ICD9CM:063.2 MESH:D004675 SNOMEDCT_US_2023_03_01:16901001 UMLS_CUI:C0014054 Central European encephalitis Far Eastern TBE Russian spring-summer encephalitis Siberian tick-borne encephalitis Taiga encephalitis Western European tick-borne encephalitis west-Siberian encephalitis disease_ontology DOID:0050175 tick-borne encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus (Orthoflavivirus encephalitidis), which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. url:https://en.wikipedia.org/wiki/Tick-borne_encephalitis url:https://www.cdc.gov/tick-borne-encephalitis/about/ url:https://www.ecdc.europa.eu/en/tick-borne-encephalitis A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. disease_ontology DOID:0050177 monogenic disease 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 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). disease_ontology DOID:0050178 obsolete complex genetic disease true 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 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus (Orthoflavivirus powassanense), 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. disease_ontology DOID:0050179 Powassan encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus (Orthoflavivirus powassanense), 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://pmc.ncbi.nlm.nih.gov/articles/PMC9494578/ url:https://www.cdc.gov/powassan/about/ url:https://www.ncbi.nlm.nih.gov/articles/PMC5732952/ url:https://www.ncbi.nlm.nih.gov/books/NBK570599/ 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. disease_ontology DOID:0050180 obsolete Colorado tick fever encephalitis true 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 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. disease_ontology DOID:0050181 obsolete Herpes simplex virus encephalitis true 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 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. DOID:8698 Herpes zoster encephalitis Postchickenpox encephalitis Varicella Zoster Encephalitis postvaricella encephalitis disease_ontology DOID:0050182 obsolete Varicella-zoster virus encephalitis true 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 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. disease_ontology DOID:0050183 obsolete Epstein-Barr virus encephalitis true 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 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. DOID:9127 Post measles encephalitis (disorder) Post-measles encephalitis postmeasles encephalitis disease_ontology DOID:0050184 obsolete Measles virus encephalitis true 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/ A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. GARD:6372 MESH:D004892 disease_ontology DOID:0050185 erythema multiforme 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 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. disease_ontology DOID:0050186 obsolete Cytomegalovirus encephalitis true 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 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. DOID:9231 disease_ontology DOID:0050187 obsolete Rubella virus encephalitis true 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 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. disease_ontology DOID:0050188 obsolete coxsackievirus encephalitis true 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 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. disease_ontology DOID:0050189 obsolete polioencephalitis true 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 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. disease_ontology DOID:0050190 obsolete adenovirus encephalitis true 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 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. disease_ontology DOID:0050191 obsolete influenza virus encephalitis true 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 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. disease_ontology DOID:0050192 Nipah virus encephalitis 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/ 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. disease_ontology DOID:0050193 obsolete Lymphocytic choriomeningitis virus encephalitis true 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 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. disease_ontology DOID:0050194 Argentine hemorrhagic fever 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 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. disease_ontology DOID:0050195 Bolivian hemorrhagic fever 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 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. disease_ontology DOID:0050196 Venezuelan hemorrhagic fever 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/ 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. disease_ontology DOID:0050197 Brazilian hemorrhagic fever 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 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. disease_ontology DOID:0050198 Chapare hemorrhagic fever 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 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. disease_ontology DOID:0050199 Whitewater Arroyo hemorrhagic fever 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 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. disease_ontology DOID:0050200 Korean hemorrhagic fever 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 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. disease_ontology DOID:0050201 nephropathia epidemica 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 A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding. disease_ontology DOID:0050202 lujo hemorrhagic fever 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 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. disease_ontology DOID:0050203 obsolete Cytomegalovirus hepatitis true 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 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. disease_ontology DOID:0050204 Epstein-Barr virus hepatitis 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 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. disease_ontology DOID:0050205 obsolete Herpes simplex virus hepatitis true 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 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. disease_ontology DOID:0050206 obsolete adenovirus hepatitis true 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. disease_ontology DOID:0050207 obsolete Rubella virus hepatitis true 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 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. disease_ontology DOID:0050208 obsolete yellow fever hepatitis true 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 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. disease_ontology DOID:0050209 obsolete Measles virus hepatitis true 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 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. disease_ontology DOID:0050210 obsolete Varicella-zoster virus hepatitis true 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 An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus (Gammainfluenzavirus influenzae), or has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae) including 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. disease_ontology DOID:0050211 swine influenza An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus (Gammainfluenzavirus influenzae), or has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae) including 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 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. Campylobacter Gastroenteritis disease_ontology DOID:0050212 obsolete Campylobacter jejuni gastroenteritis true 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 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. disease_ontology DOID:0050213 obsolete Vibrio gastroenteritis true 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 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. ICD10CM:G70.80 ICD9CM:358.3 MESH:D015624 NCI:C3155 SNOMEDCT_US_2023_03_01:230688006 UMLS_CUI:C0022972 Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome disease_ontology DOID:0050214 Lambert-Eaton myasthenic syndrome 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 LEMS 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. Staphylococcus Aureus Gastroenteritis disease_ontology DOID:0050215 obsolete Staphylococcus gastroenteritis true 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/ 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. disease_ontology DOID:0050216 obsolete Bacillus cereus gastroenteritis true 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 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. disease_ontology DOID:0050217 obsolete Sapovirus gastroenteritis true 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 An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. human polycystic hydatid disease neotropical echinococcosis disease_ontology DOID:0050218 polycystic echinococcosis 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 A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses. disease_ontology DOID:0050219 obsolete Hepeviridae infectious disease true 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 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. Q fever pneumonia disease_ontology DOID:0050220 obsolete Coxiella burnetii pneumonia true 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 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. Q fever hepatitis disease_ontology DOID:0050221 obsolete Coxiella burnetii hepatitis true 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 A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies. disease_ontology DOID:0050222 selective IgM deficiency disease 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 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. disease_ontology DOID:0050223 obsolete candidal gastritis true A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration. disease_ontology DOID:0050224 obsolete Helicobacter heilmannii infectious disease true 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 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. disease_ontology DOID:0050225 obsolete Histoplasma capsulatum gastritis true 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 An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii. disease_ontology DOID:0050226 obsolete Morganella morganii intestinal infectious disease true 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 A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain. disease_ontology DOID:0050227 obsolete Vibrio cholerae O139 cholera true 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 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. Entamoeba histolytica dysentery amebic dysentery amoebic dysentery disease_ontology DOID:0050228 obsolete amebic dysentery true 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 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. disease_ontology DOID:0050229 obsolete Escherichia coli dysentery true 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 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. disease_ontology DOID:0050230 obsolete intestinal capillariasis true 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 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. disease_ontology DOID:0050231 obsolete hepatic capillariasis true 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 A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia. disease_ontology DOID:0050232 obsolete pulmonary capillariasis true 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 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. disease_ontology DOID:0050233 obsolete Balamuthia mandrillaris infectious disease true 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 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. DOID:11334 free-living ameba infectious disease disease_ontology DOID:0050234 obsolete Acanthamoeba infectious disease true 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 A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes. disease_ontology DOID:0050235 obsolete Alveolata infectious disease true A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes. url:http://en.wikipedia.org/wiki/Alveolata 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. disease_ontology DOID:0050236 obsolete Heterolobosea infectious disease true 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 A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates. disease_ontology DOID:0050237 obsolete Euglenozoa infectious disease true A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates. url:http://en.wikipedia.org/wiki/Euglenozoa A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans. disease_ontology DOID:0050238 obsolete Parabasalia infectious disease true A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans. url:http://en.wikipedia.org/wiki/Parabasalid A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell. disease_ontology DOID:0050239 obsolete Fornicata infectious disease true 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 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. disease_ontology DOID:0050240 obsolete Trichomonadida infectious disease true 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 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. disease_ontology DOID:0050241 obsolete Tritrichomonadida infectious disease true 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 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. GARD:9554 Naegleria fowleri infection disease_ontology DOID:0050242 primary amebic meningoencephalitis 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 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. disease_ontology DOID:0050243 obsolete Apicomplexa infectious disease true 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 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. disease_ontology DOID:0050244 obsolete Coccidia infectious disease true 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 An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida. disease_ontology DOID:0050245 obsolete Aconoidasida infectious disease true An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida. url:http://en.wikipedia.org/wiki/Aconoidasida 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. GARD:12651 Acanthamoeba encephalitis Acanthamoeba granulomatous encephalitis Granulomatous Amebic Encephalitis due to Acanthamoeba granulomatous amoebic encephalitis disease_ontology DOID:0050246 granulomatous amebic encephalitis 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 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. disease_ontology DOID:0050247 obsolete parasitic stramenopiles infectious disease true 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 A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema. disease_ontology DOID:0050249 obsolete Brugia timori filariasis true 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 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. disease_ontology DOID:0050250 philophthalmiasis 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 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. disease_ontology DOID:0050251 coenurosis 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 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. disease_ontology DOID:0050252 obsolete Dipylidium caninum infectious disease true 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 A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting. disease_ontology DOID:0050253 mesocestoidiasis 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 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. disease_ontology DOID:0050254 acanthocephaliasis 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 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. disease_ontology DOID:0050255 obsolete Uncinaria stenocephala infectious disease true 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 A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. GARD:683 MESH:C536369 disease_ontology DOID:0050256 angiostrongyliasis 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 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. disease_ontology DOID:0050257 obsolete Angiostrongylus cantonensis infectious disease true 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. disease_ontology DOID:0050258 obsolete Angiostrongylus costaricensis infectious disease true 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 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. disease_ontology DOID:0050259 baylisascariasis 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 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. disease_ontology DOID:0050260 dioctophymiasis 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 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. disease_ontology DOID:0050261 thelaziasis 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 A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity. disease_ontology DOID:0050262 obsolete Acoelomata infectious disease true 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 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. disease_ontology DOID:0050263 obsolete Pseudocoelomata infectious disease true 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 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. disease_ontology DOID:0050264 obsolete Acanthocephala infectious disease true 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 disease_ontology DOID:0050265 obsolete tick paralysis true 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. GARD:393 MESH:D058285 disease_ontology DOID:0050266 tungiasis 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 disease_ontology DOID:0050267 obsolete Ancylostoma caninum ancylostomiasis true A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. disease_ontology DOID:0050268 ophthalmomyiasis 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 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. ICD10CM:A59.00 MESH:D014247 NCI:C35083 urogenital trichomonas disease_ontology DOID:0050269 Trichomonas vaginalis trichomoniasis 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 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. disease_ontology DOID:0050270 Trichomonas tenax trichomoniasis 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 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. disease_ontology DOID:0050271 obsolete cutaneous ascomycota mycosis true 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 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. disease_ontology DOID:0050272 obsolete cutaneous basidiomycota mycosis true 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 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. disease_ontology DOID:0050273 obsolete Neoscytalidium dimidiatum infectious disease true 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 An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals. disease_ontology DOID:0050274 obsolete Scopulariopsis infectious disease true 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 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. disease_ontology DOID:0050275 obsolete onychomycosis true 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 A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members. disease_ontology DOID:0050276 obsolete subcutaneous ascomycota mycosis true 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 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. disease_ontology DOID:0050277 obsolete subcutaneous fungi incertae sedis mycosis true 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 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. disease_ontology DOID:0050278 basidiobolomycosis 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 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. disease_ontology DOID:0050279 conidiobolomycosis 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 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. disease_ontology DOID:0050280 obsolete superficial ascomycota mycosis true 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 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. disease_ontology DOID:0050281 obsolete superficial basidiomycota mycosis true 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 A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members. disease_ontology DOID:0050282 obsolete primary systemic ascomycota mycosis true 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/ 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. disease_ontology DOID:0050283 obsolete Stachybotrys infectious disease true 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 An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota. disease_ontology DOID:0050284 obsolete opportunistic ascomycota mycosis true 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/ An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members. disease_ontology DOID:0050285 obsolete opportunistic basidiomycota mycosis true 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/ An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members. disease_ontology DOID:0050286 obsolete opportunistic fungi incertae sedis mycosis true 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 An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members. disease_ontology DOID:0050287 obsolete opportunistic microsporidia mycosis true 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/ 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. disease_ontology DOID:0050288 penicilliosis 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 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. MESH:D060585 disease_ontology DOID:0050289 fusariosis 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 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. MESH:D060586 disease_ontology DOID:0050290 trichosporonosis 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 A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. disease_ontology DOID:0050291 parasitic Ichthyosporea infectious disease 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 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. disease_ontology DOID:0050292 primary systemic mycosis 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 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. disease_ontology DOID:0050293 obsolete Scopulariopsis brevicaulis infectious disease true 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 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. disease_ontology DOID:0050294 obsolete Scytalidium hyalinum infectious disease true 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 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. plaque sporotrichosis disease_ontology DOID:0050295 obsolete cutaneous sporotrichosis true 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 A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite. disease_ontology DOID:0050296 obsolete Asfarviridae infectious disease true 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 disease_ontology DOID:0050297 obsolete primary Francisellaceae infectious disease true A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses. DOID:3123 DOID:3124 Adenoviridae infectious disease disease_ontology DOID:0050298 obsolete adenovirus infectious disease true 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 A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus. disease_ontology DOID:0050299 obsolete Simplexvirus infectious disease true A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus. url:http://en.wikipedia.org/wiki/Simplexvirus A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus. disease_ontology DOID:0050300 obsolete Deltavirus infectious disease true 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 A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses. disease_ontology DOID:0050301 obsolete Polyomaviridae infectious disease true 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 A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus. disease_ontology DOID:0050302 obsolete Varicellovirus infectious disease true 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 A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion. disease_ontology DOID:0050303 obsolete Hepacivirus infectious disease true 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 A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes. MESH:D000839 disease_ontology DOID:0050304 aniseikonia 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 A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses. disease_ontology DOID:0050305 obsolete Arteriviridae infectious disease true 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 disease_ontology DOID:0050306 OMIM mapping confirmed by DO. [SN]. obsolete familial abdominal aortic aneurysm true A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses. disease_ontology DOID:0050307 obsolete Bornaviridae infectious disease true 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 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus (Orthoflavivirus kyasanurense), 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. Alkhurma hemorrhagic fever disease_ontology DOID:0050308 Alkhumra hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus (Orthoflavivirus kyasanurense), 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 url:https://pmc.ncbi.nlm.nih.gov/articles/PMC11650908/ url:https://www.cdc.gov/alkhurma/about/ 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. disease_ontology DOID:0050309 obsolete Measles virus infectious disease true 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 disease_ontology DOID:0050310 obsolete primary Listeriaceae infectious disease true disease_ontology DOID:0050311 obsolete primary Helicobacteraceae infectious disease true disease_ontology DOID:0050312 obsolete primary Campylobacteraceae infectious disease true disease_ontology DOID:0050313 obsolete primary Brucellaceae infectious disease true disease_ontology DOID:0050314 obsolete primary Erysipelotrichaceae infectious disease true disease_ontology DOID:0050315 obsolete commensal Clostridiaceae infectious disease true disease_ontology DOID:0050316 obsolete commensal Staphylococcaceae infectious disease true disease_ontology DOID:0050317 obsolete commensal Streptococcaceae infectious disease true disease_ontology DOID:0050318 obsolete primary Burkholderiaceae infectious disease true disease_ontology DOID:0050319 obsolete primary Legionellaceae infectious disease true disease_ontology DOID:0050320 obsolete commensal Alcaligenaceae infectious disease true disease_ontology DOID:0050321 obsolete opportunistic Pseudomonadaceae infectious disease true disease_ontology DOID:0050322 obsolete primary Vibrionaceae infectious disease true disease_ontology DOID:0050323 obsolete primary Coxiellaceae infectious disease true 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). disease_ontology DOID:0050324 obsolete physical disorder OBSOLETED TERM true 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 A medical disorder that is an illness caused by abnormalities in genes or chromosomes. disease_ontology DOID:0050325 obsolete genetic disorder true 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 Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation disease_ontology DOID:0050327 OMIM mapping confirmed by DO. [SN]. obsolete peripheral dysostosis true A hypothyroidism that is present at birth. DOID:11631 DOID:11632 GARD:1487 ICD10CM:E00.1 ICD10CM:E03.1 ICD9CM:243 MESH:D003409 MIM:PS275200 NCI:C26734 NCI:C98921 SNOMEDCT_US_2023_03_01:217710005 SNOMEDCT_US_2023_03_01:75065003 UMLS_CUI:C0010308 UMLS_CUI:C0342200 disease_ontology DOID:0050328 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital hypothyroidism A hypothyroidism that is present at birth. url:http://en.wikipedia.org/wiki/Congenital_hypothyroidism url:http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism 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. disease_ontology DOID:0050329 obsolete mental disorder true 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 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. MIM:149730 LEVY-HOLLISTER SYNDROME Lacrimo-auriculo-dento-digital syndrome 1 disease_ontology DOID:0050331 OMIM mapping confirmed by DO. [SN]. lacrimoauriculodentodigital syndrome 1 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 A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts. GARD:8651 disease_ontology DOID:0050332 OMIM mapping confirmed by DO. [SN]. enlarged vestibular aqueduct 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 disease_ontology DOID:0050333 obsolete congenital anosmia true PHENYLTHIOCARBAMIDE TASTING, INCLUDED PROPYLTHIOURACIL TASTING, INCLUDED disease_ontology DOID:0050334 obsolete thiourea tasting true A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions. GARD:12299 MESH:C564243 MIM:PS608415 ORDO:75374 SNOMEDCT_US_2023_03_01:711163009 UMLS_CUI:C1842073 prolonged electroretinal response suppression disease_ontology DOID:0050335 bradyopsia 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 A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis. MESH:D017674 disease_ontology DOID:0050336 hypophosphatemia 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 disease_ontology DOID:0050337 obsolete Burkholderia cepacia infectious disease true 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. disease_ontology DOID:0050338 primary bacterial infectious disease 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 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. disease_ontology DOID:0050339 commensal bacterial infectious disease 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 A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. disease_ontology DOID:0050340 opportunistic bacterial infectious disease 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 disease_ontology DOID:0050341 obsolete opportunistic Actinomycetales infectious disease true A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora. disease_ontology DOID:0050342 obsolete commensal Actinomycetales infectious disease true 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 disease_ontology DOID:0050343 obsolete Gardnerella vaginalis vaginosis true disease_ontology DOID:0050344 obsolete commensal Bifidobacteriaceae infectious disease true disease_ontology DOID:0050345 obsolete primary Thermomonosporaceae infectious disease true disease_ontology DOID:0050346 obsolete primary Corynebacteriaceae infectious disease true disease_ontology DOID:0050347 obsolete primary Mycobacteriaceae infectious disease true disease_ontology DOID:0050348 obsolete primary Streptomycetaceae infectious disease true disease_ontology DOID:0050349 obsolete opportunistic Nocardiaceae infectious disease true disease_ontology DOID:0050350 obsolete primary Clostridiaceae infectious disease true disease_ontology DOID:0050351 obsolete primary Clostridium infectious disease true 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. disease_ontology DOID:0050352 foodborne botulism 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/ 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. disease_ontology DOID:0050353 wound botulism 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/ 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. disease_ontology DOID:0050354 infant botulism 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 disease_ontology DOID:0050355 obsolete opportunistic Burkholderiaceae infectious disease true disease_ontology DOID:0050357 obsolete Burkholderia cenocepacia infectious disease true disease_ontology DOID:0050358 obsolete commensal Chlamydiaceae infectious disease true disease_ontology DOID:0050359 obsolete Bilophila wadsworthia necrotizing fasciitis true disease_ontology DOID:0050360 obsolete commensal Enterobacteriaceae infectious disease true disease_ontology DOID:0050361 obsolete opportunistic Enterobacteriaceae infectious disease true disease_ontology DOID:0050362 obsolete Elizabethkingia meningoseptica infectious disease true disease_ontology DOID:0050363 obsolete Capnocytophaga canimorsus infectious disease true disease_ontology DOID:0050364 obsolete opportunistic Flavobacteriaceae infectious disease true disease_ontology DOID:0050365 obsolete Chryseobacterium indologenes infectious disease true disease_ontology DOID:0050366 obsolete Empedobacter brevis endophthalmitis true disease_ontology DOID:0050367 obsolete Myroides odoratus necrotizing fasciitis true disease_ontology DOID:0050368 obsolete commensal Fusobacteriaceae infectious disease true disease_ontology DOID:0050369 obsolete primary Mycoplasmataceae infectious disease true disease_ontology DOID:0050370 obsolete commensal Neisseriaceae infectious disease true disease_ontology DOID:0050371 obsolete commensal Pasteurellaceae infectious disease true disease_ontology DOID:0050372 obsolete commensal Haemophilus infectious disease true disease_ontology DOID:0050373 obsolete Leptospiraceae infectious disease true disease_ontology DOID:0050374 obsolete Spirochaetaceae infectious disease true disease_ontology DOID:0050375 obsolete primary Spirillaceae infectious disease true disease_ontology DOID:0050376 obsolete anaplasmosis true DOID:0050356 disease_ontology DOID:0050377 obsolete Burkholderia cepacia complex infectious disease true disease_ontology DOID:0050378 obsolete opportunistic Campylobacteraceae infectious disease true disease_ontology DOID:0050379 obsolete Campylobacter fetus infectious disease true disease_ontology DOID:0050380 obsolete Campylobacter coli infectious disease true disease_ontology DOID:0050381 obsolete Chlamydia trachomatis epididymitis true A tularemia that results_in swelling of regional lymph glands. disease_ontology DOID:0050382 glandular tularemia A tularemia that results_in swelling of regional lymph glands. url:http://www.cdc.gov/tularemia/signssymptoms/ A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss. disease_ontology DOID:0050383 typhoidal tularemia 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 disease_ontology DOID:0050384 obsolete commensal Helicobacteraceae infectious disease true disease_ontology DOID:0050385 obsolete commensal Helicobacter infectious disease true disease_ontology DOID:0050386 obsolete Acinetobacter baumannii pneumonia true A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences. MIM:144700 disease_ontology DOID:0050387 OMIM mapping confirmed by DO. [SN]. nonpapillary renal cell carcinoma 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 disease_ontology DOID:0050388 obsolete Bacteroides fragilis peritonitis true disease_ontology DOID:0050389 obsolete Capnocytophaga canimorsus meningitis true disease_ontology DOID:0050390 obsolete Capnocytophaga canimorsus endocarditis true disease_ontology DOID:0050391 obsolete Elizabethkingia meningoseptica meningitis true disease_ontology DOID:0050392 obsolete streptococcal necrotizing fasciitis true disease_ontology DOID:0050393 obsolete Chryseobacterium indologenes pneumonia true disease_ontology DOID:0050394 obsolete nocardial pneumonia true disease_ontology DOID:0050395 obsolete nocardial cellulitis true disease_ontology DOID:0050396 obsolete nocardial keratitis true disease_ontology DOID:0050397 obsolete cerebral Bilophila wadsworthia infectious disease true 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. Carrion disease Oroya fever disease_ontology DOID:0050398 Carrion's disease 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 disease_ontology DOID:0050399 obsolete Bordetella pertussis whooping cough true disease_ontology DOID:0050400 obsolete Pseudomonas urinary tract infectious disease true disease_ontology DOID:0050401 obsolete Pseudomonas endocarditis true disease_ontology DOID:0050402 obsolete Pseudomonas keratitis true disease_ontology DOID:0050403 obsolete commensal Mycoplasmatales infectious disease true disease_ontology DOID:0050404 obsolete commensal Mycoplasmataceae infectious disease true disease_ontology DOID:0050405 obsolete Mycoplasma genitalium urethritis true disease_ontology DOID:0050406 obsolete Yersinia pseudotuberculosis mesenteric lymphadenitis true disease_ontology DOID:0050407 obsolete commensal Mycoplasma infectious disease true disease_ontology DOID:0050408 obsolete Staphylococcus aureus ecthyma true disease_ontology DOID:0050409 obsolete Streptococcus pyogenes ecthyma true disease_ontology DOID:0050410 obsolete streptococcal erysipelas true disease_ontology DOID:0050411 obsolete Staphylococcus aureus erysipelas true disease_ontology DOID:0050412 obsolete Streptococcus impetigo true disease_ontology DOID:0050413 obsolete Staphylococcus aureus impetigo true disease_ontology DOID:0050414 obsolete Streptococcus lymphangitis true disease_ontology DOID:0050415 obsolete Staphylococcus aureus lymphangitis true disease_ontology DOID:0050416 obsolete Streptococcus agalactiae meningitis true Streptococcus dysgalactiae subsp. equisimilis meningitis disease_ontology DOID:0050417 obsolete Streptococcus equisimilis meningitis true Streptococcus equi subsp. zooepidemicus meningitis disease_ontology DOID:0050418 obsolete Streptococcus zooepidemicus meningitis true A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency. MESH:C572568 MIM:610984 C3 INACTIVATOR DEFICIENCY COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY disease_ontology DOID:0050419 OMIM mapping confirmed by DO. [SN]. complement factor I deficiency 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 disease_ontology DOID:0050420 obsolete primary Streptococcaceae infectious disease true disease_ontology DOID:0050421 obsolete primary streptococcal infectious disease true disease_ontology DOID:0050422 obsolete Yersinia pseudotuberculosis gastroenteritis true enteroaggregative E.coli infection disease_ontology DOID:0050423 obsolete enteroaggregative Escherichia coli infectious disease true An intestinal disease that is characterized by predisposition to colon cancer. GARD:6408 MESH:D011125 MIM:PS175100 NCI:C3339 ORDO:733 SNOMEDCT_US_2023_03_01:72900001 UMLS_CUI:C0032580 adenomatous polyposis of the colon disease_ontology DOID:0050424 OMIM mapping confirmed by DO. [SN]. familial adenomatous polyposis An intestinal disease that is characterized by predisposition to colon cancer. url:http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis url:https://pmc.ncbi.nlm.nih.gov/articles/PMC8256374/ url:https://www.ncbi.nlm.nih.gov/books/NBK1345/ A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. EFO:0004270 GARD:11926 ICD10CM:G25.81 ICD9CM:333.94 MESH:D012148 MIM:PS102300 NCI:C84501 SNOMEDCT_US_2023_03_01:32914008 UMLS_CUI:C0035258 WED Willis-Ekbom disease Wittmaack-Ekbom syndrome disease_ontology DOID:0050425 Xref MGI. restless legs syndrome 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 WED 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. EFO:0004276 GARD:7700 ICD10CM:L51.1 ICD9CM:695.13 MESH:D013262 NCI:C79484 SNOMEDCT_US_2023_03_01:73442001 UMLS_CUI:C0038325 disease_ontology DOID:0050426 Stevens-Johnson syndrome MESH:D013262 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 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. GARD:7910 ICD10CM:Q82.1 MESH:D014983 NCI:C3452 ORDO:910 SNOMEDCT_US_2023_03_01:44600005 UMLS_CUI:C0043346 disease_ontology DOID:0050427 OMIM mapping confirmed by DO. [SN]. xeroderma pigmentosum 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 A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. MESH:C563422 UMLS_CUI:C1833030 NEPPK Thost-Unna Syndrome Unna-Thost Syndrome diffuse nonepidermolytic palmomplantar keratoderma tylosis disease_ontology DOID:0050428 nonepidermolytic palmoplantar keratoderma MESH:C563422 UMLS_CUI:C1833030 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 NEPPK 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. GARD:6559 ICD10CM:Q82.8 MESH:D016506 MIM:169600 NCI:C82865 SNOMEDCT_US_2023_03_01:79468000 UMLS_CUI:C0085106 BENIGN CHRONIC PEMPHIGUS Pemphigus, Benign Familial disease_ontology DOID:0050429 OMIM mapping confirmed by DO. [SN]. Hailey-Hailey disease 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/ A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. ICD10CM:E31.22 ICD9CM:258.02 MESH:D018813 MIM:171400 NCI:C3226 ORDO:247698 SNOMEDCT_US_2023_03_01:721188000 UMLS_CUI:C0025268 MEN2A Sipple syndrome multiple endocrine neoplasia II disease_ontology DOID:0050430 OMIM mapping confirmed by DO. [SN]. multiple endocrine neoplasia type 2A 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 MEN2A 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. MESH:D019571 MIM:PS107970 NCI:C84571 ORDO:217656 ORDO:247 SNOMEDCT_US_2023_03_01:281170005 UMLS_CUI:C0349788 ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM disease_ontology DOID:0050431 Xref MGI. OMIM mapping confirmed by DO. [SN]. arrhythmogenic right ventricular cardiomyopathy ARVD 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/ ARVC 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. GARD:5855 ICD10CM:F84.5 MESH:D020817 MIM:608631 MIM:608638 MIM:608781 MIM:609954 MIM:PS608638 NCI:C97159 ORDO:1162 SNOMEDCT_US_2023_03_01:154879004 UMLS_CUI:C0236792 disease_ontology DOID:0050432 Multiple OMIM IDs are susceptibility terms [LS] Asperger syndrome 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 A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain. GARD:6429 ICD10CM:A81.83 ICD9CM:046.72 MESH:D034062 MIM:600072 NCI:C84711 SNOMEDCT_US_2023_03_01:83157008 UMLS_CUI:C0206042 disease_ontology DOID:0050433 OMIM mapping confirmed by DO. [SN]. fatal familial insomnia 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 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. GARD:9453 MESH:D050030 MIM:170390 NCI:C84559 ORDO:37553 SNOMEDCT_US_2023_03_01:422348008 UMLS_CUI:C1563715 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Andersen syndrome LQT7 Long QT syndrome 7 Potassium-Sensitive Cardiodysrhythmic Type disease_ontology DOID:0050434 OMIM mapping confirmed by DO. [SN]. Andersen-Tawil syndrome 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 LQT7 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. GARD:95 MESH:D050336 MIM:253250 NCI:C84906 ORDO:2576 SNOMEDCT_US_2023_03_01:81604003 UMLS_CUI:C0524582 MUL Mulibrey growth disorder Muscle-Liver-Brain-Eye Nanism PERICARDIAL CONSTRICTION AND GROWTH FAILURE Perheentupa Syndrome disease_ontology DOID:0050436 OMIM mapping confirmed by DO. [SN]. mulibrey nanism 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/ MUL A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. GARD:9730 MESH:D052120 MIM:300257 NCI:C84735 SNOMEDCT_US_2023_03_01:419097006 UMLS_CUI:C0878677 ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II disease_ontology DOID:0050437 OMIM mapping confirmed by DO. [SN]. Danon disease 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/ 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. GARD:2375 MESH:D052159 MIM:136680 NCI:C122805 SNOMEDCT_US_2023_03_01:445431000 UMLS_CUI:C0950122 disease_ontology DOID:0050438 OMIM mapping confirmed by DO. [SN]. Frasier syndrome 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 A syndrome characterized by a combination of hearing loss and visual impairment. GARD:7843 MESH:D052245 MIM:PS276900 NCI:C85217 ORDO:886 SNOMEDCT_US_2023_03_01:57838006 UMLS_CUI:C0271097 disease_ontology DOID:0050439 Xref MGI. OMIM mapping confirmed by DO. [LS]. Usher syndrome A syndrome characterized by a combination of hearing loss and visual impairment. url:http://en.wikipedia.org/wiki/Usher_syndrome A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. GARD:11962 MESH:D052496 MIM:PS151660 NCI:C165527 NCI:C84708 ORDO:98306 SNOMEDCT_US_2023_03_01:1197745002 SNOMEDCT_US_2023_03_01:49292002 SNOMEDCT_US_2023_03_01:715439000 SNOMEDCT_US_2023_03_01:725035001 UMLS_CUI:C0271694 UMLS_CUI:C1720859 UMLS_CUI:C1720860 UMLS_CUI:C1720861 Dunnigan Syndrome Koberling-Dunnigan Syndrome disease_ontology DOID:0050440 Xref MGI. OMIM mapping confirmed by DO. [SN]. familial partial lipodystrophy 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 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. ICD10CM:E75.26 MESH:D052517 MIM:272200 NCI:C84908 SNOMEDCT_US_2023_03_01:254076009 SNOMEDCT_US_2023_03_01:54898003 UMLS_CUI:C0268263 UMLS_CUI:C1720864 Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease disease_ontology DOID:0050441 OMIM mapping confirmed by DO. [SN]. mucosulfatidosis 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 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. ICD10CM:G60.1 MESH:D052919 NCI:C84789 SNOMEDCT_US_2023_03_01:238062008 UMLS_CUI:C0282527 infantile phytanic acid storage disease disease_ontology DOID:0050444 OMIM mapping confirmed by DO. [SN]. infantile Refsum disease 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/ A rickets that 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. GARD:12943 MESH:D053098 MIM:307800 NCI:C85234 UMLS_CUI:C0733682 UMLS_CUI:C1845168 UMLS_CUI:C3540852 Hypophosphatemia, Vitamin D-Resistant Rickets Vitamin D-Resistant Rickets, X-Linked X-linked dominant hypophosphatemic rickets X-linked hypophosphatemia hypophosphatemic rickets X-linked dominant disease_ontology DOID:0050445 OMIM mapping confirmed by DO. [SN]. X-linked hypophosphatemic rickets A rickets that 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://www.ncbi.nlm.nih.gov/books/NBK83985/ A skin disease characterized by a defect in the normal process of keratinization of the mucosa. GARD:8501 MESH:D053529 MIM:PS193900 NCI:C84760 ORDO:171723 SNOMEDCT_US_2023_03_01:85388002 UMLS_CUI:C1721005 hereditary mucosal leukokeratosis white sponge nevus of Cannon disease_ontology DOID:0050448 2023 nomenclature update to white sponge nevus. white sponge nevus 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/ 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. GARD:10753 MESH:D053549 MIM:PS167200 NCI:C84986 ORDO:2309 SNOMEDCT_US_2023_03_01:39427000 UMLS_CUI:C0265334 UMLS_CUI:C1706595 UMLS_CUI:C1721007 Jackson-Lawler Type Pachyonychia Congenita Jadassohn-Lewandowsky Syndrome PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE Pachyonychia Congenita Type 1 disease_ontology DOID:0050449 OMIM mapping confirmed by DO. [SN]. pachyonychia congenita 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 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). GARD:8547 MESH:D053579 MIM:263800 NCI:C84730 SNOMEDCT_US_2023_03_01:3188003 UMLS_CUI:C0268450 HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA disease_ontology DOID:0050450 OMIM mapping confirmed by DO. [SN]. Gitelman syndrome 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 A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. GARD:1030 ICD10CM:I49.8 MESH:D053840 MIM:PS601144 NCI:C142891 ORDO:130 SNOMEDCT_US_2023_03_01:418818005 UMLS_CUI:C1142166 UMLS_CUI:C1721096 Bangungut Brugada type idiopathic ventricular fibrillation Dream disease Pokkuri death syndrome SUNDS sudden unexplained nocturnal death syndrome disease_ontology DOID:0050451 OMIM mapping confirmed by DO. [SN]. Brugada syndrome 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 SUNDS 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. GARD:3588 ICD10CM:M04.1 MESH:D054078 MIM:610377 NCI:C84890 ORDO:29 SNOMEDCT_US_2023_03_01:124327008 SNOMEDCT_US_2023_03_01:234538002 UMLS_CUI:C0342731 UMLS_CUI:C0398691 UMLS_CUI:C1959626 Mevalonate Kinase Deficiency disease_ontology DOID:0050452 OMIM mapping confirmed by DO. [SN]. mevalonic aciduria 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 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. GARD:12291 ICD10CM:Q04.3 MESH:D054082 MIM:PS607432 NCI:C103921 ORDO:102009 SNOMEDCT_US_2023_03_01:204036008 SNOMEDCT_US_2023_03_01:23024003 UMLS_CUI:C0266463 UMLS_CUI:C0266483 disease_ontology DOID:0050453 Xref MGI. OMIM mapping confirmed by DO. [SN]. lissencephaly 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 A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. MESH:D054091 MIM:300049 MIM:608097 MIM:608098 MIM:612881 MIM:615544 ORDO:98892 SNOMEDCT_US_2023_03_01:448227009 SNOMEDCT_US_2023_03_01:816068000 UMLS_CUI:C1848213 UMLS_CUI:C1868720 periventricular heterotopia disease_ontology DOID:0050454 Xref MGI. OMIM mapping confirmed by DO. [SN]. periventricular nodular heterotopia 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 disease_ontology DOID:0050455 obsolete arachnodactyly true 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. GARD:9520 ICD10CM:A31.1 MESH:D054312 NCI:C84604 SNOMEDCT_US_2023_03_01:186343005 UMLS_CUI:C0085568 Bairnsdale ulcer Daintree ulcer Mossman ulcer Searl ulcer Searle's ulcer disease_ontology DOID:0050456 Buruli ulcer disease 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/ A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development. GARD:8406 MESH:D054331 NCI:C168988 SNOMEDCT_US_2023_03_01:73465006 UMLS_CUI:C1384583 DEL CASTILLO SYNDROME Germinal Cell Aplasia disease_ontology DOID:0050457 OMIM mapping confirmed by DO. [SN]. Sertoli cell-only syndrome 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 A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. GARD:9884 ICD10CM:C93.3 ICDO:9946/3 MESH:D054429 MIM:607785 NCI:C9233 SNOMEDCT_US_2023_03_01:445227008 UMLS_CUI:C0349639 disease_ontology DOID:0050458 OMIM mapping confirmed by DO. [SN]. juvenile myelomonocytic leukemia A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. url:https://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/ 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. MESH:D054559 NCI:C113750 SNOMEDCT_US_2023_03_01:20165001 UMLS_CUI:C0085681 disease_ontology DOID:0050459 hyperphosphatemia 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 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. DOID:6684 GARD:7896 ICD10CM:Q93.3 MESH:D054877 MIM:194190 NCI:C35528 ORDO:280 SNOMEDCT_US_2023_03_01:17122004 UMLS_CUI:C0796117 UMLS_CUI:C1956097 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome chromosome 4p16.3 deletion syndrome disease_ontology DOID:0050460 OMIM mapping confirmed by DO. [LS]. Wolf-Hirschhorn syndrome 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 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. GARD:5854 ICD10CM:E77.1 MESH:D054880 MIM:208400 NCI:C61273 SNOMEDCT_US_2023_03_01:54954004 UMLS_CUI:C0268225 aspartylglucosaminidase deficiency aspartylglycosaminuria glycosylasparaginase deficiency disease_ontology DOID:0050461 OMIM mapping confirmed by DO. [SN]. aspartylglucosaminuria MESH:D054880 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 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. MIM:201750 SNOMEDCT_US_2021_09_01:62964007 trapezoidocephaly-synostosis syndrome disease_ontology DOID:0050462 OMIM mapping confirmed by DO. [SN]. Antley-Bixler syndrome with disordered steroidogenesis MESH:D054882 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/ 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. GARD:10027 MESH:D055036 MIM:114290 NCI:C120205 NCI:C84609 ORDO:140 UMLS_CUI:C1861922 UMLS_CUI:C1861923 Acampomelic Campomelic Dysplasia disease_ontology DOID:0050463 OMIM mapping confirmed by DO. [SN]. campomelic dysplasia 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 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. GARD:6426 MESH:D055577 MIM:228000 NCI:C84710 SNOMEDCT_US_2023_03_01:79935000 UMLS_CUI:C0268255 Farber disease N-laurylsphingosine deacylase deficiency acid ceramidase deficiency disease_ontology DOID:0050464 OMIM mapping confirmed by DO. [SN]. Farber lipogranulomatosis 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 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. GARD:6821 MESH:D055653 MIM:158320 NCI:C84905 SNOMEDCT_US_2023_03_01:403824007 UMLS_CUI:C1321489 disease_ontology DOID:0050465 OMIM mapping confirmed by DO. [SN]. Muir-Torre syndrome 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 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. GARD:10788 MESH:D055947 NCI:C75006 ORDO:60030 SNOMEDCT_US_2023_03_01:446263001 UMLS_CUI:C1836635 UMLS_CUI:C2697932 disease_ontology DOID:0050466 Xref MGI. OMIM mapping confirmed by DO. [SN]. Loeys-Dietz syndrome 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 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. MESH:D056266 MIM:PS133200 NCI:C84696 ORDO:317 SNOMEDCT_US_2023_03_01:70041004 UMLS_CUI:C0265961 UMLS_CUI:C1851480 Erythrokeratodermia Figurata Variabilis Greither Disease disease_ontology DOID:0050467 OMIM mapping confirmed by DO. [SN]. erythrokeratodermia variabilis MESH:D056266 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 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. GARD:184 ICD10CM:L60.5 MESH:D056684 MIM:153300 NCI:C85238 SNOMEDCT_US_2023_03_01:400211001 UMLS_CUI:C0221348 disease_ontology DOID:0050468 OMIM mapping confirmed by DO. [SN]. yellow nail syndrome 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 A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. GARD:1550 MESH:D056685 MIM:218040 NCI:C84652 SNOMEDCT_US_2023_03_01:205803001 UMLS_CUI:C0587248 FCS SYNDROME Faciocutaneoskeletal Syndrome disease_ontology DOID:0050469 OMIM mapping confirmed by DO. [SN]. Costello syndrome 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 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. MESH:D056731 MIM:246200 NCI:C131000 NCI:C84676 ORDO:508 SNOMEDCT_US_2023_03_01:111307005 SNOMEDCT_US_2023_03_01:33559001 UMLS_CUI:C0265344 UMLS_CUI:C0271695 Leprechaunism disease_ontology DOID:0050470 OMIM mapping confirmed by DO. [SN]. Donohue syndrome 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 A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. GARD:1119 MESH:D056733 MIM:160980 MIM:605244 MIM:608837 NCI:C4705 ORDO:1359 SNOMEDCT_US_2023_03_01:733491005 UMLS_CUI:C0406810 UMLS_CUI:C1854540 UMLS_CUI:C2607929 Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome disease_ontology DOID:0050471 Xref MGI. OMIM mapping confirmed by DO. [SN]. Carney complex 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 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. GARD:93 ICD10CM:Q84.1 MESH:D056734 MIM:158000 NCI:C84894 SNOMEDCT_US_2023_03_01:69488000 UMLS_CUI:C0546966 disease_ontology DOID:0050472 OMIM mapping confirmed by DO. [SN]. monilethrix 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 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. MESH:D056769 MIM:203800 NCI:C84549 SNOMEDCT_US_2023_03_01:63702009 UMLS_CUI:C0268425 disease_ontology DOID:0050473 OMIM mapping confirmed by DO. [SN]. Alstrom syndrome MESH:D056769 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 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. GARD:7182 MIM:256500 ORDO:634 SNOMEDCT_US_2023_03_01:312514006 UMLS_CUI:C0265962 disease_ontology DOID:0050474 OMIM mapping confirmed by DO. [SN]. Netherton syndrome 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 A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. GARD:4936 MESH:D056846 MIM:277600 MIM:608328 MIM:613195 MIM:614819 MIM:PS277600 NCI:C85226 ORDO:3449 SNOMEDCT_US_2023_03_01:205801004 UMLS_CUI:C0265313 UMLS_CUI:C1869114 UMLS_CUI:C1869115 GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy disease_ontology DOID:0050475 Xref MGI. OMIM mapping confirmed by DO. [LS]. Weill-Marchesani syndrome 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 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. GARD:5890 ICD10CM:E78.71 MESH:D056889 MIM:302060 NCI:C84585 ORDO:111 SNOMEDCT_US_2023_03_01:297231002 UMLS_CUI:C0574083 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II MGA Type 2 MGA type II disease_ontology DOID:0050476 OMIM mapping confirmed by DO. [SN]. Barth syndrome MESH:D056889 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 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. GARD:7381 MESH:D056929 MIM:177200 NCI:C84827 SNOMEDCT_US_2023_03_01:707749005 UMLS_CUI:C0221043 Liddle's syndrome Pseudoaldosteronism disease_ontology DOID:0050477 OMIM mapping confirmed by DO. [SN]. Liddle syndrome 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 disease_ontology DOID:0050478 obsolete primary Escherichia coli infectious disease true Klebsiella infection disease_ontology DOID:0050479 obsolete commensal Klebsiella infectious disease true 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. sylvatic typhus disease_ontology DOID:0050480 epidemic typhus 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 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. DOID:0050028 DOID:0050029 DOID:0050030 DOID:0050057 DOID:0050058 Rat-Flea Typhus Rickettsia felis spotted fever Urban Typhus of Malaya cat flea rickettsiosis fleaborne typhus murine typhus toulon typhus urban typhus disease_ontology Shop typhus DOID:0050481 endemic typhus 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 disease_ontology DOID:0050482 obsolete lymphangitis-associated rickettsiosis true disease_ontology DOID:0050483 obsolete Rickettsia aeschlimannii spotted fever true 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. Rickettsia helvetica spotted fever disease_ontology DOID:0050484 aneruptive fever 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 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. GARD:120 MESH:C537582 Sennetsu ehrlichiosis disease_ontology DOID:0050485 sennetsu fever 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/ A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders. ICD10CM:R21 ICD9CM:782.1 MESH:D005076 NCI:C111884 SNOMEDCT_US_2023_03_01:112625008 UMLS_CUI:C0015230 disease_ontology DOID:0050486 exanthem 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 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. disease_ontology DOID:0050487 bacterial exanthem 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 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. disease_ontology DOID:0050488 early congenital syphilis 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 A goiter characterized by a multinodular enlargement of the thyroid gland. MIM:138800 MIM:300273 MIM:606082 MIM:PS138800 ORDO:276399 disease_ontology DOID:0050489 Xref MGI. OMIM mapping confirmed by DO. [SN]. multinodular goiter A goiter characterized by a multinodular enlargement of the thyroid gland. url:http://en.wikipedia.org/wiki/Multinodular_goitre 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. disease_ontology DOID:0050490 parenchymatous neurosyphilis 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 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. disease_ontology DOID:0050491 meningovascular neurosyphilis 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 disease_ontology DOID:0050492 obsolete tertiary syphilitic encephalitis true disease_ontology DOID:0050493 obsolete tertiary syphilitic meningitis true A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses. disease_ontology DOID:0050494 obsolete Papillomaviridae infectious disease true 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 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. ICD10CM:B08.2 ICD9CM:058.1 MESH:D005077 SNOMEDCT_US_2023_03_01:54385001 UMLS_CUI:C0015231 Roseola Infantum Sixth Disease disease_ontology DOID:0050495 exanthema subitum 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 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. disease_ontology DOID:0050496 obsolete Banna virus encephalitis true A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses. disease_ontology DOID:0050497 obsolete Anelloviridae infectious disease true A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses. url:http://en.wikipedia.org/wiki/Anelloviridae A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA. double stranded DNA virus infectious disease dsDNA virus infection disease_ontology DOID:0050498 obsolete dsDNA virus infectious disease true 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 A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA. single stranded DNA virus infectious disease ssDNA virus infection disease_ontology DOID:0050499 obsolete ssDNA virus infectious disease true 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 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. double stranded DNA reverse transcribing virus infectious disease double stranded DNA-reverse transcribing virus infection dsDNA-RT virus infection disease_ontology DOID:0050500 obsolete dsDNA-RT virus infectious disease true 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 A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes. double stranded RNA virus infectious disease dsRNA virus infection disease_ontology DOID:0050501 obsolete dsRNA virus infectious disease true 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 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. (+)ssRNA virus infection Positive Stranded ssRNA Virus infectious disease positive-sense single stranded RNA virus infectious disease positive-sense ssRNA virus infection positive-sense ssRNA virus infectious disease disease_ontology DOID:0050502 obsolete (+)ssRNA virus infectious disease true 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 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. (-)ssRNA virus infection Negative Stranded ssRNA Virus infectious disease negative-sense single stranded RNA virus infectious disease negative-sense ssRNA virus infection negative-sense ssRNA virus infectious disease disease_ontology DOID:0050503 obsolete (-)ssRNA virus infectious disease true 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 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. single stranded RNA reverse transcribing virus infectious disease ssRNA-RT virus infection disease_ontology DOID:0050504 obsolete ssRNA-RT virus infectious disease true 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 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. disease_ontology DOID:0050505 obsolete human papilloma virus related anal squamous cell carcinoma true 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 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. disease_ontology DOID:0050506 obsolete human papilloma virus related vaginal squamous cell carcinoma true 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 disease_ontology DOID:0050507 obsolete AIDS-related cryptosporidiosis true A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. ICD9CM:050.0 SNOMEDCT_US_2023_03_01:266193008 UMLS_CUI:C1812609 disease_ontology DOID:0050508 variola major 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/ disease_ontology DOID:0050509 obsolete AIDS-related toxoplasmosis true AIDS-related isosporiasis disease_ontology DOID:0050510 obsolete AIDS-related cystoisosporiasis true 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. disease_ontology DOID:0050511 obsolete Human torovirus gastroenteritis true 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 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. disease_ontology DOID:0050512 obsolete Saffold virus gastroenteritis true 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 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. disease_ontology DOID:0050513 spinal polio 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 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. disease_ontology DOID:0050514 bulbospinal polio 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 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. disease_ontology DOID:0050515 paralytic poliomyelitis 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 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. disease_ontology DOID:0050516 O'nyong'nyong fever 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 A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus (Alphavirus barmah), which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. disease_ontology DOID:0050517 Barmah Forest virus disease A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus (Alphavirus barmah), which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. url:https://en.wikipedia.org/wiki/Barmah_Forest_virus url:https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/barmah-forest-virus-disease A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus (Alphavirus rossriver), which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. Ross River virus disease disease_ontology DOID:0050518 Ross River fever A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus (Alphavirus rossriver), 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 url:https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/ross-river-virus-disease 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. disease_ontology DOID:0050519 obsolete Lymphocytic choriomeningitis virus meningitis true 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 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. disease_ontology DOID:0050520 obsolete Lymphocytic choriomeningitis virus meningoencephalitis true 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 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. disease_ontology DOID:0050521 Oropouche fever 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 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. disease_ontology DOID:0050522 Balkan hemorrhagic fever 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 A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), 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. GARD:13103 ICD10CM:C91.5 ICDO:9827/3 MESH:D015459 NCI:C3184 SNOMEDCT_US_2023_03_01:77430005 UMLS_CUI:C0023493 ATLL Adult T-cell leukemia/lymphoma (HTLV-1 positive) adult T-cell leukemia disease_ontology DOID:0050523 adult T-cell leukemia/lymphoma A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), 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 url:https://www.ncbi.nlm.nih.gov/books/NBK558968/ ATLL 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. GARD:3697 ICD10CM:E11.8 KEGG:04950 MIM:606391 ORDO:552 MODY Mason-type diabetes disease_ontology DOID:0050524 Xref MGI. OMIM mapping confirmed by DO. [SN]. maturity-onset diabetes of the young 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 MODY acro-osteolysis disease_ontology Acroosteolysis syndrome DOID:0050525 OMIM mapping confirmed by DO. [SN]. obsolete acroosteolysis true 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. GARD:12353 MIM:137200 autosomal recessive neuromyotonia and axonal neuropathy myokymia, myotonia and muscle wasting disease_ontology DOID:0050526 OMIM mapping confirmed by DO. [SN]. Gamstorp-Wohlfart syndrome 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 disease_ontology DOID:0050527 obsolete familial hypertriglyceridemia true A nonphotosensitive trichothiodystrophy that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. MIM:234050 AMISH BRITTLE HAIR BRAIN SYNDROME BIDS syndrome HAIR-BRAIN SYNDROME TTD4 disease_ontology DOID:0050528 nonphotosensitive trichothiodystrophy 4 A nonphotosensitive trichothiodystrophy 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 TTD4 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. ICD10CM:G12.1 MESH:C563948 MIM:271150 ORDO:83420 UMLS_CUI:C1838230 SMA4 SPINAL MUSCULAR ATROPHY, ADULT FORM SPINAL MUSCULAR ATROPHY, TYPE IV spinal muscular atrophy 4 disease_ontology DOID:0050529 OMIM mapping confirmed by DO. [SN]. adult spinal muscular atrophy 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 SMA4 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. MESH:D014897 MIM:253550 NCI:C156310 SNOMEDCT_US_2023_03_01:128212001 UMLS_CUI:C0393538 MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE SMA II SMA2 spinal muscular atrophy 2 spinal muscular atrophy type II disease_ontology DOID:0050530 OMIM mapping confirmed by DO. [SN]. intermediate spinal muscular atrophy 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 SMA II SMA2 LENTIGINOSIS, DIFFUSE LENTIGINOSIS, GENERALIZED LENTIGINOSIS, INHERITED PATTERNED disease_ontology DOID:0050531 OMIM mapping confirmed by DO. [SN]. obsolete lentiginosis profusa true NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC PIGMENTED MOLES disease_ontology DOID:0050532 OMIM mapping confirmed by DO. [SN]. obsolete epidermal nevus true disease_ontology DOID:0050533 OMIM mapping confirmed by DO. [SN]. obsolete soldiers heart true 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. ICD10CM:H53.63 ICD9CM:368.61 MESH:C537743 MIM:PS310500 ORDO:215 SNOMEDCT_US_2023_03_01:193687000 UMLS_CUI:C1306122 congenital essential nyctalopia disease_ontology DOID:0050534 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital stationary night blindness 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 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. GARD:1613 ICD10CM:H35.00 ICD9CM:362.10 MIM:PS133780 ORDO:891 SNOMEDCT_US_2023_03_01:193355009 UMLS_CUI:C0004608 FEVR familial exudative vitreoretinopathy disease_ontology DOID:0050535 Xref MGI. OMIM mapping confirmed by DO. [SN]. exudative vitreoretinopathy 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 FEVR 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. Hypomelia Hypotrichosis Facial hemangioma syndrome SC PSEUDOTHALIDOMIDE SYNDROME disease_ontology DOID:0050536 GHR reference SC phocomelia syndrome is a mild variant of Roberts syndrome not a distinct disease - merged into Roberts syndrome [LS] obsolete SC phocomelia syndrome true 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 A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule. CATARACT, POSTERIOR POLAR disease_ontology DOID:0050537 OMIM mapping confirmed by DO. [SN]. posterior polar cataract 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/ A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. GARD:12433 hereditary motor and sensory neuropathy type 1 disease_ontology DOID:0050538 OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease type 1 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 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. GARD:12431 ICD9CM:356.0 MIM:118230 MIM:604484 ORDO:64746 SNOMEDCT_US_2023_03_01:193158000 UMLS_CUI:C0392553 hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy type 2 disease_ontology DOID:0050539 See MIM:604484 Okinawa type is CMT type 2. Charcot-Marie-Tooth disease type 2 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 A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. MIM:145900 DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME disease_ontology DOID:0050540 OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease type 3 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 A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. DOID:0050582 GARD:12440 ORDO:64749 hereditary motor and sensory neuropathy disease_ontology DOID:0050541 Xref MGI. OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease type 4 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 A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. ORDO:64747 disease_ontology DOID:0050542 Xref MGI. OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease type X 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 A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. Charcot-Marie-Tooth disease dominant intermediate Charcot-Marie-Tooth disease recessive intermediate disease_ontology DOID:0050543 Xref MGI. OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease intermediate type 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 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. MESH:C564683 disease_ontology DOID:0050544 Xref MGI. OMIM mapping confirmed by DO. [SN]. hypermethioninemia 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 A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. GARD:10875 MIM:PS306955 ORDO:450 heterotaxia situs ambiguus disease_ontology DOID:0050545 Xref MGI. OMIM mapping confirmed by DO. [SN]. visceral heterotaxy 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 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. MIM:613743 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE Adrenal insufficiency, congenital, with 46,XY sex reversal P450scc DEFICIENCY disease_ontology DOID:0050546 OMIM mapping confirmed by DO. [SN]. congenital adrenal insufficiency 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 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. MESH:C536911 MIM:155240 THYROID CARCINOMA, FAMILIAL MEDULLARY disease_ontology DOID:0050547 OMIM mapping confirmed by DO. [SN]. familial medullary thyroid carcinoma 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 A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. MESH:D009477 MIM:PS162400 familial dysautonomia, type II hereditary sensory and autonomic neuropathy disease_ontology DOID:0050548 Xref MGI. OMIM mapping confirmed by DO. [SN]. hereditary sensory neuropathy 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 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. DOID:0110087 disease_ontology DOID:0050549 obsolete Saldino-Noonan syndrome true 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 type II short rib-polydactyly syndrome disease_ontology DOID:0050550 OMIM mapping confirmed by DO. [SN]. obsolete Majewski syndrome true type III short rib-polydactyly syndrome disease_ontology DOID:0050551 OMIM mapping confirmed by DO. [SN]. obsolete Verma-Naumoff syndrome true 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 or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21. GARD:10988 GARD:3916 GARD:3917 MIM:256040 ORDO:324999 CANDLE JMP syndrome JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY NKJO Nakajo-Nishimura syndrome PRAAS1 chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome disease_ontology DOID:0050553 proteasome-associated autoinflammatory syndrome 1 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 or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 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 CANDLE NKJO PRAAS1 A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. DOID:0060064 MIM:301310 Anemia sideroblastic and spinocerebellar ataxia Anemia, sideroblastic, spinocerebellar ataxia X-linked sideroblastic anaemia and ataxia X-linked sideroblastic anaemia with ataxia X-linked sideroblastic anemia and ataxia disease_ontology DOID:0050554 OMIM mapping confirmed by DO. [SN]. X-linked sideroblastic anemia with ataxia 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 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. disease_ontology DOID:0050556 obsolete infantile onset spinocerebellar ataxia true 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 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. GARD:9138 ICD9CM:359.0 MIM:254100 ORDO:97242 SNOMEDCT_US_2023_03_01:193221009 UMLS_CUI:C2937300 disease_ontology DOID:0050557 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital muscular dystrophy 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 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. GARD:4769 ORDO:75840 ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy disease_ontology DOID:0050558 Ullrich congenital muscular dystrophy 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 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. GARD:6475 MIM:253800 ORDO:272 disease_ontology DOID:0050559 OMIM mapping confirmed by DO. [SN]. Fukuyama congenital muscular dystrophy 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 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. GARD:2599 MESH:D058494 HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome disease_ontology DOID:0050560 OMIM mapping confirmed by DO. [SN]. Walker-Warburg syndrome 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 A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood. GARD:9912 MESH:D065768 MIM:606369 ORDO:2382 Lennox syndrome disease_ontology DOID:0050561 Lennox-Gastaut syndrome 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 An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. GARD:7887 MESH:D013036 NCI:C84788 ORDO:3451 disease_ontology Infantile spasms syndrome DOID:0050562 West syndrome 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 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. MESH:C580334 nonsyndromic hearing loss nonsyndromic hereditary hearing loss disease_ontology DOID:0050563 nonsyndromic deafness 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 A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. ICD10CM:H90.3 MIM:PS124900 ORDO:90635 autosomal dominant deafness disease_ontology DOID:0050564 OMIM mapping confirmed by DO. [SN]. autosomal dominant nonsyndromic deafness A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. ICD10CM:H90.3 MIM:607197 MIM:PS220290 ORDO:90636 disease_ontology DOID:0050565 MIM:607197 is an older phenotype record for this disease. autosomal recessive nonsyndromic deafness A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness A nonsyndromic deafness characterized by an X-linked inheritance mode. ICD10CM:H90.3 MIM:PS304500 ORDO:90625 X-linked deafness disease_ontology DOID:0050566 OMIM mapping confirmed by DO. [SN]. X-linked nonsyndromic deafness A nonsyndromic deafness characterized by an X-linked inheritance mode. url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness 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. MIM:PS119530 disease_ontology DOID:0050567 Xref MGI. OMIM mapping confirmed by DO. [SN]. orofacial cleft 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 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. GARD:12174 MIM:PS277300 ORDO:1797 ORDO:2311 Jarcho-Levin syndrome costovertebral dysplasia spondylothoracic dysostosis spondylothoracic dysplasia disease_ontology DOID:0050568 Xref MGI. OMIM mapping confirmed by DO. [SN]. spondylocostal dysostosis 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 A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. GARD:8562 ICD10CM:Q87.1 MIM:PS210600 ORDO:808 Harper's syndrome Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism disease_ontology DOID:0050569 Xref MGI. OMIM mapping confirmed by DO. [SN]. Seckel syndrome A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. url:http://en.wikipedia.org/wiki/Seckel_syndrome A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. MIM:PS212065 disease_ontology DOID:0050570 OMIM mapping confirmed by DO. [SN]. congenital disorder of glycosylation type I 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 A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. MESH:C535747 MIM:PS212066 disease_ontology DOID:0050571 OMIM mapping confirmed by DO. [SN]. congenital disorder of glycosylation type II 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 A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. GARD:10790 ICD10CM:H35.5 ORDO:1872 cone-rod retinal dystrophy disease_ontology DOID:0050572 Xref MGI. OMIM mapping confirmed by DO. [SN]. cone-rod dystrophy 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 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. GARD:10761 MESH:C535306 disease_ontology DOID:0050573 2-hydroxyglutaric aciduria 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 An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). GARD:10472 MIM:236792 ORDO:79314 L-2-HYDROXYGLUTARIC ACIDEMIA disease_ontology DOID:0050574 L-2-hydroxyglutaric aciduria 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 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. GARD:5661 MIM:PS600721 disease_ontology DOID:0050575 D-2-hydroxyglutaric aciduria 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 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. GARD:322 ICD10CM:Q61.5 MESH:C537580 MIM:266900 MIM:606995 MIM:606996 MIM:609254 MIM:610189 MIM:613615 MIM:PS266900 ORDO:3156 Loken Senior syndrome renal-retinal syndrome disease_ontology DOID:0050576 Xref MGI. OMIM mapping confirmed by DO. [SN]. Senior-Loken syndrome 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 A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies. MESH:C562966 MIM:PS218330 Levin syndrome Sensenbrenner syndrome disease_ontology DOID:0050577 OMIM mapping confirmed by DO. [SN]. cranioectodermal dysplasia 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/ 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. MIM:613587 disease_ontology DOID:0050578 OMIM mapping confirmed by DO. [SN]. occult macular dystrophy 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 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. MIM:613507 ORDO:263297 Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV disease_ontology DOID:0050579 glycogen storage disease XV 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 A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. GARD:7220 ICD9CM:757.0 MIM:PS153100 ORDO:79452 SNOMEDCT_US_2023_03_01:205542007 UMLS_CUI:C1313885 disease_ontology DOID:0050580 Xref MGI. OMIM mapping confirmed by DO. [SN]. hereditary lymphedema A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. url:http://en.wikipedia.org/wiki/Milroy%27s_disease A dysostosis characterized by short fingers and toes. GARD:11913 MESH:D059327 ORDO:294937 disease_ontology DOID:0050581 Xref MGI. OMIM mapping confirmed by DO. [SN]. brachydactyly MESH:D059327 A dysostosis characterized by short fingers and toes. url:http://en.wikipedia.org/wiki/Brachydactyly disease_ontology DOID:0050583 obsolete Chlamydophila pneumoniae infectious disease true 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. disease_ontology DOID:0050584 gummatous syphilis 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 A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. GARD:13388 MIM:PS608594 disease_ontology DOID:0050585 OMIM mapping confirmed by DO. [SN]. congenital generalized lipodystrophy 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 An impulse control disorder that involves the uncontrollable plucking of ones hair. GARD:7803 MESH:D014256 MIM:613229 disease_ontology DOID:0050587 OMIM mapping confirmed by DO. [SN]. trichotillomania An impulse control disorder that involves the uncontrollable plucking of ones hair. url:https://en.wikipedia.org/wiki/Trichotillomania 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. MIM:613155 CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1 disease_ontology DOID:0050588 Xref MGI. muscular dystrophy-dystroglycanopathy type B1 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 An intestinal disease characterized by inflammation located in all parts of digestive tract. EFO:0003767 KEGG:05321 MESH:D015212 MIM:PS266600 NCI:C3138 SNOMEDCT_US_2023_03_01:155759008 UMLS_CUI:C0021390 disease_ontology DOID:0050589 Xref MGI. OMIM mapping confirmed by DO. [SN]. inflammatory bowel disease 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 A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. GARD:13592 ICD10CM:D70 MIM:PS202700 ORDO:42738 disease_ontology DOID:0050590 Xref MGI. OMIM mapping confirmed by DO. [SN]. severe congenital neutropenia 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 A tooth disease characterized by failure to develop one or more missing teeth. ICD10CM:K00.0 ICD9CM:520.0 MESH:D000848 MIM:106600 MIM:150400 MIM:313500 MIM:602639 MIM:604625 MIM:610926 MIM:PS106600 NCI:C172328 ORDO:2227 ORDO:99798 SNOMEDCT_US_2023_03_01:234951001 UMLS_CUI:C0399352 familial tooth agenesis hypodontia oligodontia selective tooth agenesis disease_ontology DOID:0050591 Xref MGI. tooth agenesis A tooth disease characterized by failure to develop one or more missing teeth. url:http://en.wikipedia.org/wiki/Hypodontia A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. ICD10CM:Q77.2 MIM:PS208500 ORDO:474 Jeune syndrome short-rib thoracic dysplasia with or without polydactyly thoracic pelvic phalangeal dystrophy disease_ontology DOID:0050592 OMIM mapping confirmed by DO. [SN]. asphyxiating thoracic dystrophy 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 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. MIM:613085 MIM:613086 disease_ontology DOID:0050593 Xref MGI. primary congenital glaucoma 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 A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity. Glycogen storage disease 9 disease_ontology DOID:0050594 glycogen storage disease IX 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 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. DOID:10076 ICD10CM:B68.1 ICD9CM:123.2 SNOMEDCT_US_2023_03_01:69163003 UMLS_CUI:C0152073 disease_ontology Beef tapeworm infection Infection by Taeniarhynchus saginatus Taenia saginata infectious disease DOID:0050596 taeniasis 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 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. DOID:13692 DOID:13721 DOID:3468 ICD10CM:B65.1 ICD10CM:B65.2 ICD9CM:120.1 ICD9CM:120.2 MESH:D012554 MESH:D012555 MIM:181460 NCI:C35001 NCI:C35002 NCI:C35364 ORDO:1247 SNOMEDCT_US_2023_03_01:187114003 SNOMEDCT_US_2023_03_01:52179003 SNOMEDCT_US_2023_03_01:750009 UMLS_CUI:C0036329 UMLS_CUI:C0036330 UMLS_CUI:C0276932 Katayama fever Schistosoma japonicum infection Schistosoma mansoni infectious disease schistosomiasis japonica disease_ontology DOID:0050597 Xref MGI. intestinal schistosomiasis 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 A tuberculosis that occurs at body sites other than the lung. disease_ontology DOID:0050598 extrapulmonary tuberculosis A tuberculosis that occurs at body sites other than the lung. url:https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf 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. disease_ontology DOID:0050599 abdominal tuberculosis 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 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). MESH:C535334 MIM:600501 ABCDS albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness disease_ontology DOID:0050600 OMIM mapping confirmed by DO. [SN]. ABCD syndrome 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 ABCDS 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. GARD:384 MIM:103285 acro-dermato-ungual-lacrimal-tooth syndrome disease_ontology DOID:0050601 OMIM mapping confirmed by DO. [SN]. ADULT syndrome 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/ 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. GARD:457 MIM:231550 AAAS Achalasia-Addisonianism-Alacrimia syndrome Allgrove Syndrome disease_ontology DOID:0050602 OMIM mapping confirmed by DO. [SN]. triple-A syndrome 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 AAAS An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. GARD:376 MIM:200500 Acheiropodia Horn-Kolb Syndrome disease_ontology DOID:0050603 OMIM mapping confirmed by DO. [SN]. acheiropody 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 An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene. GARD:10605 MESH:C564334 MIM:607778 disease_ontology DOID:0050604 OMIM mapping confirmed by DO. [SN]. acrocapitofemoral dysplasia 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 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. GARD:5723 MESH:C538178 MIM:201100 disease_ontology DOID:0050605 acrodermatitis enteropathica 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 A keratosis that has_material_basis_in mutations in the ATP2A2 gene. MIM:101900 Acrokeratosis verruciformis of Hopf Hopf disease disease_ontology DOID:0050606 OMIM mapping confirmed by DO. [SN]. acrokeratosis verruciformis A keratosis that has_material_basis_in mutations in the ATP2A2 gene. url:https://en.wikipedia.org/wiki/Acrokeratosis_verruciformis An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. Askin tumor Askin tumour Askin's tumour disease_ontology DOID:0050608 Askin's tumor 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 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. disease_ontology DOID:0050610 oral cavity carcinoma in situ 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/ An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma. disease_ontology DOID:0050611 pharynx carcinoma in situ 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 An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma. disease_ontology DOID:0050612 gallbladder carcinoma in situ 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 An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma. disease_ontology DOID:0050613 bile duct carcinoma in situ 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 An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma. disease_ontology DOID:0050614 bronchus carcinoma in situ An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma. url:https://www.ncbi.nlm.nih.gov/pubmed/10858385 An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. disease_ontology DOID:0050615 respiratory system cancer 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 DOID:4755 disease_ontology DOID:0050616 obsolete malignant Leydig cell tumor true disease_ontology DOID:0050617 obsolete malignant Sertoli cell tumor true disease_ontology DOID:0050618 obsolete malignant Sertoli-Leydig cell tumor true A respiratory system cancer that is located_in the paranasal sinuses. DOID:1354 DOID:2442 DOID:2765 DOID:2767 DOID:4689 MESH:D010255 NCI:C6014 NCI:C6017 NCI:C6018 NCI:C6019 NCI:C8193 SNOMEDCT_US_2023_03_01:1255092002 UMLS_CUI:C0280334 UMLS_CUI:C0854995 UMLS_CUI:C1335336 UMLS_CUI:C1335337 UMLS_CUI:C1335340 Epidermoid carcinoma of the paranasal sinus Mucoepidermoid carcinoma of Accessory sinus adenoid cystic carcinoma of Accessory sinus paranasal sinus adenocarcinoma paranasal sinus adenoid cystic carcinoma paranasal sinus mucoepidermoid carcinoma paranasal sinus squamous cell carcinoma disease_ontology adenoid cystic carcinoma of paranasal sinus squamous cell carcinoma of paranasal sinus DOID:0050619 paranasal sinus cancer A respiratory system cancer that is located_in the paranasal sinuses. url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1 A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis. disease_ontology DOID:0050620 infiltrating renal pelvis transitional cell carcinoma A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis. url:https://en.wikipedia.org/wiki/Transitional_cell_carcinoma An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm. disease_ontology DOID:0050621 respiratory system benign neoplasm 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 An organ system benign neoplasm that is located_in reproductive system organs. disease_ontology DOID:0050622 reproductive organ benign neoplasm An organ system benign neoplasm that is located_in reproductive system organs. url:http://en.wikipedia.org/wiki/Reproductive_system A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas. disease_ontology DOID:0050623 bladder benign neoplasm 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/ An organ system benign neoplasm located_in gastrointestinal tract organs. disease_ontology DOID:0050624 gastrointestinal system benign neoplasm An organ system benign neoplasm located_in gastrointestinal tract organs. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract A hepatobiliary benign neoplasm located_in the biliary tract. DOID:4609 NCI:C4441 SNOMEDCT_US_2023_03_01:126855001 UMLS_CUI:C0345913 extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct disease_ontology DOID:0050625 biliary tract benign neoplasm A hepatobiliary benign neoplasm located_in the biliary tract. url:http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. gastrointestinal neuroendocrine tumour malignant gastrointestinal neuroendocrine tumor malignant gastrointestinal neuroendocrine tumour disease_ontology DOID:0050626 gastrointestinal neuroendocrine tumor 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 A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. MIM:PS604348 ORDO:164736 familial advanced sleep-phase syndrome disease_ontology DOID:0050628 Xref MGI. advanced sleep phase syndrome 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 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. GARD:575 ICD10CM:G31.8 MIM:225750 MIM:610181 MIM:610329 MIM:610333 MIM:612952 MIM:615010 MIM:615846 MIM:PS225750 ORDO:51 AGS Cree encephalitis disease_ontology DOID:0050629 Xref MGI. OMIM mapping confirmed by DO. [SN]. Aicardi-Goutieres syndrome 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 AGS 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. GARD:10574 MESH:C562664 MIM:300600 FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome disease_ontology DOID:0050630 Aland Island eye disease 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 A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13. GARD:5617 MESH:C537047 MIM:300523 ORDO:59 AHDS ALLAN-HERNDON SYNDROME disease_ontology DOID:0050631 OMIM mapping confirmed by DO. [SN]. Allan-Herndon-Dudley syndrome 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 AHDS A syndrome characterized by abnormal pigmentation of the skin, hair and eyes. GARD:10958 ICD10CM:E70.3 MESH:D016115 MIM:PS203100 ORDO:55 disease_ontology DOID:0050632 Xref MGI. OMIM mapping confirmed by DO. [SN]. oculocutaneous albinism 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 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. MESH:D016117 MIM:300500 Albinism ocular 1 ocular albinism disease_ontology DOID:0050633 ocular albinism 1 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 An alopecia characterized by the complete loss of hair on the scalp and body. GARD:614 MESH:C537055 MIM:203655 ALOPECIA UNIVERSALIS CONGENITA disease_ontology DOID:0050634 alopecia universalis An alopecia characterized by the complete loss of hair on the scalp and body. url:https://rarediseases.info.nih.gov/diseases/614/alopecia-universalis A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. GARD:11 ICD10CM:G98 MESH:C536589 MIM:104290 MIM:614820 MIM:PS104290 ORDO:2131 AHC disease_ontology DOID:0050635 Xref MGI. OMIM mapping confirmed by DO. [SN]. alternating hemiplegia of childhood 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 AHC An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. GARD:8282 MIM:105200 ORDO:85450 AMYLOIDOSIS, FAMILIAL RENAL German type amyloidosis OSTERTAG TYPE AMYLOIDOSIS systemic nonneuropathic amyloidosis disease_ontology DOID:0050636 OMIM mapping confirmed by DO. [SN]. familial visceral amyloidosis 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 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. GARD:2339 MIM:105120 ORDO:85448 AGel amyloidosis AMYLOIDOSIS, MERETOJA TYPE Lattice corneal dystrophy type II gelsolin amyloidosis disease_ontology DOID:0050637 OMIM mapping confirmed by DO. [SN]. Finnish type amyloidosis 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 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. DOID:0050761 GARD:656 ICD10CM:E85.82 MIM:105210 ORDO:85447 ATTR amyloidosis ATTRm amyloidosis Amyloidosis, hereditary, transthyretin-related Corino de Andrade's disease Familial transthyretin amyloidosis TTR amyloidosis familial amyloid polyneuropathy paramyloidosis transthyretin-related hereditary amyloidosis disease_ontology DOID:0050638 OMIM mapping confirmed by DO. [SN]. transthyretin amyloidosis 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 An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. GARD:132 MIM:PS105250 ORDO:137807 ORDO:353220 PCA familial primary localized cutaneous amyloidosis disease_ontology DOID:0050639 Xref MGI. OMIM mapping confirmed by DO. [SN]. primary cutaneous amyloidosis An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. url:https://www.ncbi.nlm.nih.gov/pubmed/19663869 PCA An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. MIM:607095 spondylometaepiphyseal dysplasia, Menger type disease_ontology DOID:0050640 anauxetic dysplasia 1 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/ 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. GARD:12916 MESH:C562717 MIM:268150 disease_ontology DOID:0050641 OMIM mapping confirmed by DO. [SN]. Rh deficiency syndrome 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 A microcytic anemia characterized by paler than normal blood cells. MIM:206100 MIM:615234 disease_ontology DOID:0050642 Xref MGI. OMIM mapping confirmed by DO. [SN]. hypochromic microcytic anemia A microcytic anemia characterized by paler than normal blood cells. url:http://en.wikipedia.org/wiki/Hypochromic_anemia disease_ontology DOID:0050643 obsolete anonychia congenita true 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. GARD:8380 MESH:C537440 MIM:208000 MIM:614473 ORDO:51608 generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis disease_ontology DOID:0050644 Xref MGI. OMIM mapping confirmed by DO. [SN]. arterial calcification of infancy 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 A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. GARD:774 MESH:C565942 MIM:208050 disease_ontology DOID:0050645 OMIM mapping confirmed by DO. [SN]. arterial tortuosity syndrome 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 A muscle tissue disease characterized by congenital joint contractures of hand and feet. GARD:786 MIM:PS108120 ORDO:1147 ORDO:97120 Arthrogryposis Multiplex Congenita disease_ontology DOID:0050646 Xref MGI. OMIM mapping confirmed by DO. [SN]. distal arthrogryposis A muscle tissue disease characterized by congenital joint contractures of hand and feet. url:http://en.wikipedia.org/wiki/Arthrogryposis 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. GARD:8756 MESH:C535388 MIM:301835 ORDO:1187 SNOMEDCT_US_2023_03_01:702441001 UMLS_CUI:C0796028 ARTS Lethal ataxia with deafness and optic atrophy MRXS18 MRXSARTS fatal X-linked ataxia with deafness and loss of vision syndromic X-linked mental retardation 18 syndromic X-linked mental retardation Arts type disease_ontology DOID:0050647 OMIM mapping confirmed by DO. [SN]. Arts syndrome 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 ARTS MRXS18 MRXSARTS An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. MIM:108720 MIM:108721 MIM:256050 disease_ontology DOID:0050648 OMIM mapping confirmed by DO. [SN]. atelosteogenesis 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 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. GARD:9595 MIM:209300 NCI:C125693 ORDO:1195 familial hypotransferrinemia disease_ontology DOID:0050649 OMIM mapping confirmed by DO. [SN]. atransferrinemia 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 An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. GARD:9740 MIM:607554 MIM:608583 MIM:608988 MIM:611493 MIM:611494 MIM:612201 MIM:612240 MIM:613055 MIM:613980 MIM:614022 MIM:614049 MIM:614050 MIM:615377 MIM:615378 MIM:615770 MIM:PS608583 ORDO:334 ATFB disease_ontology DOID:0050650 Xref MGI. familial atrial fibrillation 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 ATFB 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. GARD:802 ICD10CM:Q21.2 ICD9CM:745.6 MESH:D004694 MIM:606215 MIM:614430 MIM:614474 ORDO:98722 SNOMEDCT_US_2023_03_01:204322008 UMLS_CUI:C0014116 AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect disease_ontology DOID:0050651 Xref MGI. OMIM mapping confirmed by DO. [SN]. atrioventricular septal defect 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 AVCD AVSD ECD disease_ontology DOID:0050652 obsolete soft tissue cancer true nevus of Clark disease_ontology DOID:0050653 obsolete dysplastic nevus true A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. GARD:1602 MESH:C536788 MIM:218600 ORDO:1223 SNOMEDCT_US_2023_03_01:77608001 UMLS_CUI:C0265308 disease_ontology DOID:0050654 OMIM mapping confirmed by DO. [SN]. Baller-Gerold syndrome 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/ 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. MIM:241850 HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE disease_ontology DOID:0050655 OMIM mapping confirmed by DO. [SN]. Bamforth-Lazarus syndrome 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 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. GARD:12426 MIM:251290 ORDO:1229 BLC-PMG BLCPMG Baraitser-Brett-Piesowicz syndrome Baraitser-Reardon syndrome PTORCH1 band-like calcification with simplified gyration and polymicrogyria bilateral band-like calcification with polymicrogyria microcephaly-intracranial calcification-intellectual disability syndrome disease_ontology DOID:0050656 pseudo-TORCH syndrome 1 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 BLC-PMG BLCPMG PTORCH1 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. GARD:5887 ICD10CM:Q87.89 MESH:D006223 MIM:158350 NCI:C3939 ORDO:109 Bannayan-Zonana syndrome Cowden syndrome 1 Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome disease_ontology DOID:0050657 OMIM mapping confirmed by DO. [SN]. Bannayan-Riley-Ruvalcaba syndrome 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 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. MIM:149200 KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS disease_ontology DOID:0050658 OMIM mapping confirmed by DO. [SN]. Bart-Pumphrey syndrome 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 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. MESH:C537658 MIM:607483 disease_ontology DOID:0050659 OMIM mapping confirmed by DO. [SN]. biotin-responsive basal ganglia disease 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/ 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. GARD:332 MIM:123790 disease_ontology DOID:0050660 OMIM mapping confirmed by DO. [SN]. Beare-Stevenson cutis gyrata syndrome 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 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. GARD:10120 GARD:182 ICD10CM:H35.5 MESH:D057826 MIM:153700 MIM:153840 MIM:608161 MIM:616151 MIM:616152 ORDO:1243 ORDO:99000 Best disease Best macular dystrophy juvenile-onset vitelliform macular dystrophy disease_ontology DOID:0050661 Xref MGI. OMIM mapping confirmed by DO. [SN]. vitelliform macular dystrophy 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 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. MESH:C567518 MIM:611809 autosomal recessive bestrophinopathy disease_ontology DOID:0050662 OMIM mapping confirmed by DO. [SN]. bestrophinopathy 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 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. GARD:873 MESH:C535436 MIM:158810 benign congenital muscular dystrophy disease_ontology DOID:0050663 OMIM mapping confirmed by DO. [SN]. Bethlem myopathy 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 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. GARD:10050 MIM:210370 Bietti's crystalline dystrophy disease_ontology DOID:0050664 OMIM mapping confirmed by DO. [SN]. Bietti crystalline corneoretinal dystrophy 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 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. ICD10CM:Q86.0 disease_ontology DOID:0050665 fetal alcohol syndrome 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 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. disease_ontology DOID:0050666 partial fetal alcohol syndrome 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 A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. ARND static encephalopathy disease_ontology DOID:0050667 alcohol-related neurodevelopmental disorder 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 ARND A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. ARBD disease_ontology DOID:0050668 alcohol-related birth defects 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 ARBD 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. disease_ontology DOID:0050669 spastic cerebral palsy 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 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. GARD:10451 MIM:605388 hypotonic cerebral palsy disease_ontology DOID:0050670 ataxic cerebral palsy 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 A breast cancer that develops from breast tissue in females. snadendla 2011-06-15T02:48:20Z disease_ontology DOID:0050671 female breast cancer 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 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. Athetoid Dyskinetic Cerebral Palsy disease_ontology DOID:0050672 dyskinetic cerebral palsy 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 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. disease_ontology DOID:0050673 mixed cerebral palsy 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 A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. ICD10CM:K76.8 ORDO:485631 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBA cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency disease_ontology DOID:0050674 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital bile acid synthesis defect 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 CBA 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. GARD:10358 MESH:C567357 MIM:612292 Birk-Barel mental retardation dysmorphism syndrome disease_ontology DOID:0050675 OMIM mapping confirmed by DO. [SN]. Birk-Barel syndrome 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 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. GARD:2322 MESH:D058249 MIM:135150 disease_ontology DOID:0050676 OMIM mapping confirmed by DO. [SN]. Birt-Hogg-Dube syndrome 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/ 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. GARD:22 MESH:C537633 MIM:262000 ORDO:123 SNOMEDCT_US_2023_03_01:67817003 UMLS_CUI:C0266006 BJS PTD deafness-pili torti-hypogonadism syndrome disease_ontology DOID:0050677 OMIM mapping confirmed by DO. [SN]. Bjornstad syndrome 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/ BJS PTD A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. GARD:304 MESH:C538157 MIM:186580 NCI:C116794 ARTHROCUTANEOUVEAL GRANULOMATOSIS BLAUS Jabs syndrome disease_ontology DOID:0050678 OMIM mapping confirmed by DO. [SN]. Blau syndrome 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 BLAUS 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. GARD:917 MIM:303700 disease_ontology DOID:0050679 OMIM mapping confirmed by DO. [SN]. blue cone monochromacy 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 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. GARD:933 MESH:C536573 MIM:112310 disease_ontology DOID:0050680 OMIM mapping confirmed by DO. [SN]. Boomerang dysplasia 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 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. GARD:936 MESH:C536575 MIM:301900 NCI:C157122 ORDO:127 SNOMEDCT_US_2023_03_01:21634003 UMLS_CUI:C0265339 BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type disease_ontology DOID:0050681 OMIM mapping confirmed by DO. [SN]. Borjeson-Forssman-Lehmann syndrome 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 BFLS BORJ MRXSBFL A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. MIM:601536 ORDO:69739 NAVAJO BRAINSTEM SYNDROME disease_ontology DOID:0050682 OMIM mapping confirmed by DO. [SN]. Athabaskan brainstem dysgenesis syndrome 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 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. MESH:C564392 MIM:607475 Vasterbotten dystrophy disease_ontology DOID:0050683 OMIM mapping confirmed by DO. [SN]. Bothnia retinal dystrophy 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 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. GARD:5950 MESH:C537081 MIM:211180 ORDO:1270 SNOMEDCT_US_2023_03_01:711153001 UMLS_CUI:C1859405 BWCNS Bowen Hutterite syndrome Bowen-Conradi Hutterite syndrome disease_ontology DOID:0050684 OMIM mapping confirmed by DO. [SN]. Bowen-Conradi syndrome 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 BWCNS A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. snadendla 2011-06-13T01:25:14Z DOID:7137 ICDO:8041/3 NCI:C4099 SNOMEDCT_US_2023_03_01:5958006 UMLS_CUI:C0334239 Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma disease_ontology DOID:0050685 small cell carcinoma A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. url:http://en.wikipedia.org/wiki/Small_cell_carcinoma A cancer that is classified based on the organ it starts in. snadendla 2011-06-13T03:28:33Z MESH:D009371 disease_ontology DOID:0050686 organ system cancer A cancer that is classified based on the organ it starts in. url:https://www.cancer.gov/types/by-body-location A cancer that is classified by the type of cell from which it is derived. snadendla 2011-06-13T03:28:50Z disease_ontology DOID:0050687 cell type cancer A cancer that is classified by the type of cell from which it is derived. url:http://en.wikipedia.org/wiki/Cancer A large intestine cancer that is located_in the terminal part of the large intestine. snadendla 2011-06-14T01:34:36Z disease_ontology DOID:0050688 anal canal cancer A large intestine cancer that is located_in the terminal part of the large intestine. url:http://en.wikipedia.org/wiki/Anal_canal A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. snadendla 2011-06-17T03:55:47Z MESH:C565193 MIM:610713 disease_ontology DOID:0050689 OMIM mapping confirmed by DO. [SN]. brachydactyly-syndactyly syndrome 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 An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. snadendla 2011-06-17T04:00:27Z GARD:10903 MESH:C537098 MIM:113500 MIM:271530 MIM:271630 MIM:613678 ORDO:1293 brachyrachia disease_ontology DOID:0050690 Xref MGI. OMIM mapping confirmed by DO. [SN]. brachyolmia An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. url:https://www.ncbi.nlm.nih.gov/pubmed/10968486 A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts. snadendla 2011-06-17T04:10:18Z GARD:3212 MIM:113620 disease_ontology DOID:0050691 OMIM mapping confirmed by DO. [SN]. branchiooculofacial syndrome 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 A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles. snadendla 2011-06-17T04:30:49Z GARD:9158 MESH:C536607 MIM:601003 disease_ontology DOID:0050692 OMIM mapping confirmed by DO. [SN]. Brody myopathy 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 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. snadendla 2011-06-17T04:34:10Z GARD:10179 MIM:605041 ORDO:79493 SNOMEDCT_US_2023_03_01:703531009 UMLS_CUI:C1857941 BRSS BSS CYLD cutaneous syndrome SBS Spiegler-Brooke Syndrome disease_ontology DOID:0050693 OMIM mapping confirmed by DO. [SN]. Brooke-Spiegler syndrome 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 BRSS BSS SBS 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. snadendla 2011-06-17T04:38:07Z MESH:C537111 MIM:PS211530 disease_ontology DOID:0050694 OMIM mapping confirmed by DO. [SN]. Brown-Vialetto-Van Laere syndrome MESH:C537111 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 A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura. snadendla 2011-06-27T09:57:44Z disease_ontology DOID:0050695 malignant pleural solitary fibrous tumor 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 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. lschriml 2011-12-01T01:01:25Z disease_ontology DOID:0050696 fetal alcohol spectrum disorder 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 A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. lschriml 2012-01-03T01:13:08Z MESH:D002821 disease_ontology DOID:0050697 chorioamnionitis 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 A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. lschriml 2012-01-03T01:18:35Z disease_ontology DOID:0050698 funisitis A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. url:http://en.wikipedia.org/wiki/Funisitis A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure. lschriml 2015-03-12T14:32:47Z GARD:13105 MESH:D057973 MIM:300009 MIM:300555 NCI:C123260 ORDO:1652 SNOMEDCT_US_2023_03_01:444645005 UMLS_CUI:C0878681 Dent's disease X-linked hypercalciuric nephrocalcinosis disease_ontology DOID:0050699 Dent disease 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/ A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. lschriml 2012-01-03T02:54:11Z ICD10CM:I42 ICD9CM:425 ICD9CM:425.9 MESH:D009202 NCI:C34830 NCI:C53654 SNOMEDCT_US_2023_03_01:266301006 SNOMEDCT_US_2023_03_01:89461002 SNOMEDCT_US_2023_03_01:89600009 UMLS_CUI:C0033141 UMLS_CUI:C0036529 UMLS_CUI:C0878544 Cardiomyopathies disease_ontology DOID:0050700 MESH:D009202 added from NeuroDevNet [WAK]. cardiomyopathy 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/ 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. lschriml 2012-04-11T11:42:46Z electro-clinical syndrome disease_ontology DOID:0050701 electroclinical syndrome 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 An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. lschriml 2012-04-11T11:48:18Z disease_ontology DOID:0050702 JA:Epilepsy Genetics Kiel neonatal period electroclinical syndrome 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 An electroclinical syndrome with onset in infancy occurring between birth and one year of age. lschriml 2012-04-11T11:48:18Z disease_ontology DOID:0050703 JA:Epilepsy Genetics Kiel infancy electroclinical syndrome An electroclinical syndrome with onset in infancy occurring between birth and one year of age. url:https://www.ncbi.nlm.nih.gov/pubmed/20196795 An electroclinical syndrome with onset in childhood between one and 12 years of age. lschriml 2012-04-11T11:48:18Z disease_ontology DOID:0050704 JA:Epilepsy Genetics Kiel childhood electroclinical syndrome An electroclinical syndrome with onset in childhood between one and 12 years of age. url:https://www.ncbi.nlm.nih.gov/pubmed/20196795 An electroclinical syndrome with onset in adolescence and adulthood. lschriml 2012-04-11T11:48:18Z disease_ontology DOID:0050705 adolescence-adult electroclinical syndrome An electroclinical syndrome with onset in adolescence and adulthood. url:https://www.ncbi.nlm.nih.gov/pubmed/20196795 JA:Epilepsy_Genetics_Kiel An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration. lschriml 2012-04-11T11:48:18Z disease_ontology DOID:0050706 variable age at onset electroclinical syndrome 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/ lschriml 2012-04-11T01:42:13Z disease_ontology DOID:0050707 obsolete nonsyndromic epilepsy true A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. lschriml 2012-04-11T02:29:04Z disease_ontology DOID:0050708 JA:Epilepsy Genetics Kiel early onset absence epilepsy 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 A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. lschriml 2012-05-10T10:02:58Z DOID:2481 GARD:9255 ORDO:1934 Early Infantile Epileptic Encephalopathy with Burst-Suppression disease_ontology DOID:0050709 early infantile epileptic encephalopathy 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 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. lschriml 2012-05-22T10:32:44Z GARD:10954 MIM:PS210200 ORDO:6 3-Methylcrotonylglycinuria 3MCC deficiency BMCC deficiency disease_ontology DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency 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 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. lschriml 2012-05-22T11:47:25Z GARD:9499 MIM:604290 disease_ontology DOID:0050711 aceruloplasminemia 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 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. lschriml 2012-05-22T11:53:57Z MIM:612718 Cerebral creatine deficiency syndrome 3 arginine glycine amidinotransferase deficiency disease_ontology DOID:0050712 AGAT deficiency 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 A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. lschriml 2012-05-22T01:03:41Z ORDO:1561 UMLS_CUI:C4273730 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency fatal infantile COX deficiency fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency fatal infantile cytochrome C oxidase deficiency fatal infantile encephalocardiomyopathy disease_ontology DOID:0050713 Xref MGI. COX deficiency, infantile mitochondrial myopathy ORDO:1561 UMLS_CUI:C4273730 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/ 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. lschriml 2012-05-23T03:26:25Z MIM:277400 Cobalamin C deficiency MAHCC disease_ontology DOID:0050715 methylmalonic aciduria and homocystinuria type cblC 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 MAHCC A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. lschriml 2012-05-23T03:26:25Z MIM:277410 Cobalamin D deficiency MAHCD disease_ontology DOID:0050716 methylmalonic aciduria and homocystinuria type cblD 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 MAHCD 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. lschriml 2012-05-23T03:26:25Z MIM:277380 Cobalamin F deficiency MAHCF disease_ontology DOID:0050717 methylmalonic aciduria and homocystinuria type cblF 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 MAHCF An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. lschriml 2012-06-11T02:44:53Z disease_ontology DOID:0050718 vitamin metabolic disorder 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 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. lschriml 2012-06-11T02:58:59Z MIM:613068 Neurodegeneration due to cerebral folate transport deficiency disease_ontology DOID:0050719 cerebral folate receptor alpha deficiency 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 An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. lschriml 2012-06-13T03:09:31Z GARD:2830 MIM:238970 HHH syndrome Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome disease_ontology DOID:0050720 ornithine translocase deficiency 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 An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. lschriml 2012-06-13T03:09:31Z disease_ontology DOID:0050721 serine deficiency 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 A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. lschriml 2012-06-13T03:09:31Z MESH:C566618 MIM:601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY disease_ontology DOID:0050722 PHGDH deficiency 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 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. lschriml 2012-06-13T03:09:31Z MIM:610992 Phosphoserine aminotransferase deficiency disease_ontology DOID:0050723 PSAT deficiency 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 A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. lschriml 2012-06-13T03:09:31Z MIM:614023 PSPHD Phosphoserine phosphatase deficiency disease_ontology DOID:0050724 PSPH deficiency 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 PSPHD 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. lschriml 2012-06-13T03:09:31Z MIM:276600 Oculocutaneous tyrosinemia Richner-Hanhart syndrome disease_ontology DOID:0050725 tyrosinemia type II 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 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. lschriml 2012-07-06T02:55:45Z MIM:276700 hepatorenal tyrosinemia disease_ontology DOID:0050726 tyrosinemia type I 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 A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. lschriml 2012-07-06T02:55:45Z MIM:276710 disease_ontology DOID:0050727 tyrosinemia type III 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 A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. lschriml 2012-07-13T10:42:54Z disease_ontology DOID:0050728 glycogen metabolism disorder 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 A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. lschriml 2012-07-17T12:31:48Z GARD:3979 MIM:275630 ORDO:98907 neutral lipid storage disease disease_ontology DOID:0050729 Chanarin-Dorfman syndrome 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 A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. lschriml 2012-07-17T12:58:37Z GARD:10423 MIM:PS607426 COENZYME Q10 DEFICIENCY, PRIMARY disease_ontology DOID:0050730 coenzyme Q10 deficiency disease 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 A vitamin metabolic disorder that results from low blood levels of vitamin B12. lschriml 2012-07-17T01:01:29Z MESH:D014806 cobalamin deficiency hypocobalaminemia disease_ontology DOID:0050731 vitamin B12 deficiency A vitamin metabolic disorder that results from low blood levels of vitamin B12. url:http://en.wikipedia.org/wiki/B12_deficiency 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. lschriml 2012-07-17T01:42:35Z disease_ontology DOID:0050732 methylmalonic aciduria and homocystinuria type cblE 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 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. lschriml 2012-07-17T01:42:35Z disease_ontology DOID:0050733 methylmalonic aciduria and homocystinuria type cblG 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 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. lschriml 2012-07-17T01:52:57Z MIM:261000 hereditary intrinsic factor deficiency disease_ontology DOID:0050734 congenital intrinsic factor deficiency 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 A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. lschriml 2012-07-24T12:47:31Z disease_ontology DOID:0050735 X-linked monogenic disease 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 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. lschriml 2012-07-24T12:51:47Z disease_ontology DOID:0050736 autosomal dominant disease 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 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. lschriml 2012-07-24T12:51:47Z disease_ontology DOID:0050737 autosomal recessive disease 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 A monogenic disease that has_material_basis_in mutations on the Y chromosome. lschriml 2012-07-24T12:51:47Z disease_ontology DOID:0050738 Y-linked monogenic disease A monogenic disease that has_material_basis_in mutations on the Y chromosome. url:http://en.wikipedia.org/wiki/Genetic_disorder#Y-linked A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. lschriml 2012-07-24T04:45:53Z disease_ontology DOID:0050739 autosomal genetic disease 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 A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. lschriml 2012-08-10T01:08:47Z GARD:371 MESH:C536259 MIM:600096 Dysharmonic skeletal maturation - muscular fibre disproportion Qazi-Markouizos syndrome disease_ontology DOID:0050740 Qazi Markouizos syndrome 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 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. lschriml 2012-09-05T11:48:42Z KEGG:05034 MIM:103780 SNOMEDCT_US_2021_09_01:66590003 alcoholism disease_ontology DOID:0050741 alcohol dependence 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 A substance dependence that is characterized by a physical dependence on nicotine. lschriml 2012-09-05T11:48:42Z EFO:0003768 ICD10CM:F17 MESH:D014029 NCI:C54203 SNOMEDCT_US_2023_03_01:56294008 UMLS_CUI:C0028043 tobacco use disorder disease_ontology DOID:0050742 nicotine dependence A substance dependence that is characterized by a physical dependence on nicotine. url:https://en.wikipedia.org/wiki/Nicotine_dependence A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. lschriml 2012-09-18T01:56:52Z NK-T cell lymphoma mature T-cell and natural killer cell lymphoma disease_ontology DOID:0050743 mature T-cell and NK-cell lymphoma 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 A non-Hodgkin lymphoma involving aberrant T-cells. lschriml 2012-09-18T01:57:40Z ICDO:9714/3 NCI:C3720 disease_ontology DOID:0050744 anaplastic large cell lymphoma A non-Hodgkin lymphoma involving aberrant T-cells. url:http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern. lschriml 2012-09-18T01:58:25Z GARD:3178 ICD11:2A81.Z ICDO:9680/3 MESH:D016403 NCI:C80280 DLBCL disease_ontology DOID:0050745 diffuse large B-cell lymphoma 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 DLBCL 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. lschriml 2012-09-18T02:00:45Z GARD:6969 ICDO:9673/3 MESH:D020522 disease_ontology DOID:0050746 mantle cell lymphoma 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 A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells. lschriml 2012-09-18T02:00:45Z disease_ontology DOID:0050747 Xref MGI. obsolete lymphoplasmacytic lymphoma true A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells. url:http://en.wikipedia.org/wiki/Lymphoplasmacytic_lymphoma 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. lschriml 2012-09-18T02:00:45Z ICDO:9699/3 MESH:D018442 marginal zone B-cell lymphoma disease_ontology DOID:0050748 marginal zone lymphoma 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 A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. lschriml 2012-09-18T02:01:49Z GARD:7368 disease_ontology DOID:0050749 peripheral T-cell lymphoma 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 A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. lschriml 2012-09-18T02:03:06Z NCI:C4663 disease_ontology DOID:0050750 splenic marginal zone lymphoma 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 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. lschriml 2012-09-18T02:05:41Z ICDO:9831/3 NCI:C4664 Large granular lymphocytic leukaemia Large granular lymphocytic leukemia T-cell large granular lymphocyte leukaemia disease_ontology DOID:0050751 T-cell large granular lymphocyte leukemia 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 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20. GARD:10499 MIM:608627 ALS8 amyotrophic lateral sclerosis 8 disease_ontology DOID:0050752 amyotrophic lateral sclerosis type 8 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 ALS8 A hereditary ataxia that is characterized by ataxia originating in the cerebellum. lschriml 2013-01-16T01:07:02Z MESH:D002524 disease_ontology DOID:0050753 cerebellar ataxia A hereditary ataxia that is characterized by ataxia originating in the cerebellum. url:http://en.wikipedia.org/wiki/Cerebellar_ataxia 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. lschriml 2013-01-16T01:07:02Z GARD:9283 MIM:208920 disease_ontology DOID:0050754 ataxia with oculomotor apraxia type 1 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 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. lschriml 2013-01-16T01:07:02Z GARD:12860 MIM:606002 ORDO:64753 AOA2 SCAN2 SCAR1 ataxia with oculomotor apraxia type 2 autosomal recessive spinocerebellar ataxia 1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 spinocerebellar ataxia with axonal neuropathy type 2 disease_ontology DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 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/ AOA2 SCAN2 SCAR1 2013-01-16T01:15:03Z disease_ontology DOID:0050756 obsolete CLN3 disease true 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. lschriml 2013-01-16T01:20:50Z DOID:0050867 MESH:C535808 MIM:304700 ORDO:3213 Deafness Dystonia Optic Atrophy Syndrome Deafness Dystonia Optic Neuronopathy Syndrome Dystonia Deafness Syndrome Jensen syndrome Mohr-Tranebjaerg syndrome deafness dystonia syndrome disease_ontology DOID:0050757 deafness-dystonia-optic neuronopathy syndrome 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/ An acquired metabolic disease that characterized by excessive production of acid. lschriml 2013-01-16T01:23:37Z disease_ontology DOID:0050758 metabolic acidosis 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 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. lschriml 2013-01-16T01:27:31Z GARD:9728 ICD10CM:G71.1 ICD9CM:359.2 MESH:D020967 MIM:602668 NCI:C84913 ORDO:606 SNOMEDCT_US_2023_03_01:155096007 UMLS_CUI:C0553604 disease_ontology DOID:0050759 myotonic dystrophy type 2 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/ 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. lschriml 2013-01-16T01:29:01Z GARD:3892 MIM:310440 XMEA disease_ontology DOID:0050760 X-linked myopathy with excessive autophagy 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/ XMEA lschriml 2013-01-16T01:30:21Z disease_ontology DOID:0050761 obsolete paramyloidosis true 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. lschriml 2013-01-17T12:42:58Z GARD:550 MIM:103050 disease_ontology DOID:0050762 adenylosuccinase lyase deficiency 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 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. lschriml 2013-01-17T12:46:38Z MIM:PS208085 ORDO:2697 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis disease_ontology DOID:0050763 ARC syndrome 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 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. lschriml 2013-01-17T12:48:15Z ICD10CM:Q87.8 MIM:300261 ORDO:85276 Armfield X-linked mental retardation syndrome MRXSA X-linked intellectual disability, Armfield type mental retardation syndrome, X-linked, Armfield type syndromic X-linked mental retardation Armfield type disease_ontology DOID:0050764 Armfield syndrome 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 MRXSA A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. lschriml 2013-01-17T12:54:19Z GARD:10902 MESH:D054546 ORDO:263440 disease_ontology DOID:0050765 neuroacanthocytosis 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/ 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. lschriml 2013-01-17T12:54:19Z GARD:3956 MESH:D054546 MIM:200150 NCI:C84926 ORDO:2388 SNOMEDCT_US_2023_03_01:26848004 UMLS_CUI:C0393576 Levine-Critchley syndrome choreo-acanthocytosis disease_ontology DOID:0050766 choreaacanthocytosis 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 An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele. lschriml 2013-02-21T11:19:14Z disease_ontology DOID:0050767 midface dysplasia An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele. url:https://en.wikipedia.org/wiki/Frontonasal_dysplasia A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11. lschriml 2013-02-21T11:26:46Z MIM:604273 MC5DN1 disease_ontology DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 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 MC5DN1 A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity. lschriml 2013-02-21T11:32:26Z GARD:3902 MESH:C536108 MIM:310465 ORDO:2608 NSX disease_ontology DOID:0050769 N syndrome 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 NSX A liver disease that is characterized by the presence of multiple cysts located_in the liver. lschriml 2013-02-21T11:36:13Z DOID:1173 GARD:9457 MESH:C536330 congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease disease_ontology DOID:0050770 polycystic liver disease 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/ 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. lschriml 2013-02-21T11:40:58Z GARD:7385 ICDO:8700/0 MESH:D010673 MIM:171300 phaeochromocytoma disease_ontology DOID:0050771 pheochromocytoma 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 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. lschriml 2015-09-17T14:42:06Z MIM:108600 disease_ontology DOID:0050772 spastic ataxia 1 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 A pheochromocytoma that arises in extraadrenal sympathetic ganglia. lschriml 2013-02-21T11:51:57Z ICDO:8680/3 MESH:D010235 MIM:115310 MIM:168000 MIM:601650 MIM:605373 MIM:614165 MIM:PS168000 NCI:C3308 SNOMEDCT_US_2023_03_01:302833002 UMLS_CUI:C0030421 chemodectoma glomus body tumor disease_ontology DOID:0050773 Xref MGI. paraganglioma 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 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. lschriml 2013-02-21T11:56:15Z GARD:4637 MESH:C535288 MIM:266280 ORDO:3021 SNOMEDCT_US_2023_03_01:702413000 UMLS_CUI:C1849453 disease_ontology DOID:0050774 rapadilino syndrome 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 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. lschriml 2013-02-21T12:00:39Z GARD:169 MESH:C536637 MIM:269250 disease_ontology DOID:0050775 schneckenbecken dysplasia 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 A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. lschriml 2013-02-21T12:06:40Z MIM:300716 ORDO:777 non-specific X-linked mental retardation disease_ontology DOID:0050776 Xref MGI. non-syndromic X-linked intellectual disability A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. url:https://www.ncbi.nlm.nih.gov/pubmed/7011032 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. lschriml 2013-04-04T11:25:32Z GARD:6802 ICD10CM:Q04.3 MIM:PS213300 ORDO:475 JBTS disease_ontology DOID:0050777 Xref MGI. Joubert syndrome 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 JBTS A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. lschriml 2013-04-04T11:28:16Z GARD:3436 ICD9CM:753.1 MIM:PS249000 ORDO:564 SNOMEDCT_US_2023_03_01:204954005 UMLS_CUI:C0311245 Meckel-Gruber syndrome disease_ontology DOID:0050778 Xref MGI. Meckel syndrome 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 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. lschriml 2013-06-24T12:50:06Z GARD:6683 ICD10CM:Q87.8 MESH:C536079 MIM:PS236680 ORDO:2189 Salonen-Herva-Norio syndrome disease_ontology DOID:0050779 Xref MGI. hydrolethalus syndrome 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 A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects. lschriml 2013-06-24T01:18:03Z disease_ontology DOID:0050780 obsolete Opitz-GBBB syndrome true 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 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. lschriml 2013-07-17T10:18:00Z MIM:300855 ORDO:276432 N-alpha-acetyltransferase N-terminal acetyltransferase deficiency OGDNS X-linked Malformation and Infantile Lethality Syndrome disease_ontology DOID:0050781 Ogden syndrome 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 OGDNS 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. lschriml 2013-10-23T12:51:49Z GARD:7918 ICD10CM:E16.4 MESH:D015043 NCI:C3453 SNOMEDCT_US_2023_03_01:267477002 UMLS_CUI:C0043515 disease_ontology DOID:0050782 Zollinger-Ellison syndrome 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 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. lschriml 2013-11-07T11:22:49Z MESH:D020528 SNOMEDCT_US_2023_03_01:425500002 UMLS_CUI:C0751965 SPMS Secondary-progressive MS disease_ontology DOID:0050783 secondary progressive multiple sclerosis MESH:D020528 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 SPMS 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. lschriml 2013-11-07T11:26:58Z MESH:D020528 SNOMEDCT_US_2023_03_01:428700003 UMLS_CUI:C0751964 PPMS Primary-progressive MS disease_ontology DOID:0050784 primary progressive multiple sclerosis MESH:D020528 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 PPMS A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. lschriml 2013-11-07T11:32:37Z MESH:D020528 SNOMEDCT_US_2023_03_01:724778008 UMLS_CUI:C0393666 PRMS Progressive-relapsing MS disease_ontology DOID:0050785 progressive relapsing multiple sclerosis MESH:D020528 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/ PRMS 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. lschriml 2013-11-12T10:28:51Z GARD:3026 MIM:137600 MIM:601631 ORDO:98634 IGDS IRID 1 IRID 2 iridogoniodysgenesis type 1 iridogoniodysgenesis type 2 disease_ontology DOID:0050786 Xref MGI. iridogoniodysgenesis syndrome 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 IGDS IRID 1 IRID 2 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. lschriml 2013-11-12T11:25:28Z GARD:3065 MESH:C537702 MIM:174900 disease_ontology DOID:0050787 juvenile polyposis syndrome 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/ A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. lschriml 2013-11-12T11:43:22Z GARD:8182 KEGG:H00484 MIM:PS185800 ORDO:3250 Cushing's symphalangism disease_ontology DOID:0050788 proximal symphalangism 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 A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. lschriml 2013-11-12T11:50:00Z GARD:9225 MIM:186570 ORDO:1412 disease_ontology DOID:0050789 tarsal-carpal coalition syndrome 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 An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly. lschriml 2013-11-12T12:21:56Z KEGG:H00467 MESH:C537931 MIM:228900 ORDO:2639 Du Pan syndrome acromesomelic dysplasia-2B disease_ontology DOID:0050790 fibular hypoplasia and complex brachydactyly 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 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. lschriml 2013-11-12T12:26:49Z GARD:8435 MESH:C536665 MIM:261550 NCI:C120188 SNOMEDCT_US_2023_03_01:702358005 UMLS_CUI:C1849930 persistent Muellerian duct syndrome disease_ontology DOID:0050791 persistent Mullerian duct syndrome 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 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. lschriml 2013-11-12T12:38:33Z MESH:C563977 MIM:600195 ORDO:2451 SNOMEDCT_US_2023_03_01:699301008 UMLS_CUI:C1838437 VMCM cutaneomucosal venous malformation mucocutaneous venous malformations disease_ontology DOID:0050792 multiple cutaneous and mucosal venous malformations 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 VMCM 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. lschriml 2013-11-12T12:59:42Z MIM:609620 MIM:609621 MIM:609622 disease_ontology DOID:0050793 short QT syndrome 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 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. lschriml 2013-11-12T01:08:42Z MIM:PS186500 ORDO:3237 disease_ontology DOID:0050794 multiple synostoses syndrome 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/ A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. lschriml 2013-11-12T01:19:22Z GARD:11897 MESH:D000077765 retinal cone dystrophy disease_ontology DOID:0050795 cone dystrophy MESH:D000077765 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/ 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). lschriml 2013-11-20T03:01:06Z GARD:456 MESH:C536010 MIM:200450 ORDO:929 SNOMEDCT_US_2023_03_01:718573009 UMLS_CUI:C1860212 ACHALASIA-MICROCEPHALY SYNDROME Achalasia microcephaly disease_ontology DOID:0050796 achalasia microcephaly syndrome 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 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. lschriml 2013-11-21T10:47:41Z GARD:4543 MESH:C536662 MIM:264470 NCI:C170437 ORDO:2971 SNOMEDCT_US_2023_03_01:238069004 UMLS_CUI:C1849678 Peroxisomal acyl-coenzyme A oxidase disease_ontology DOID:0050797 peroxisomal acyl-CoA oxidase deficiency GARD:4543 NCI:C170437 ORDO:2971 SNOMEDCT_US_2023_03_01:238069004 UMLS_CUI:C1849678 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 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. lschriml 2013-11-21T12:10:58Z MIM:PS300352 disease_ontology DOID:0050798 cerebral creatine deficiency syndrome 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 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. lschriml 2013-11-21T12:10:58Z GARD:2578 MESH:C537622 MIM:612736 Cerebral creatine deficiency syndrome 2 GAMT deficiency disease_ontology DOID:0050799 guanidinoacetate methyltransferase deficiency 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 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. lschriml 2013-11-21T12:10:58Z MIM:300352 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency disease_ontology DOID:0050800 cerebral creatine deficiency syndrome 1 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 An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males. lschriml 2013-11-21T12:48:07Z GARD:9269 MIM:109200 MIM:300710 MIM:612421 alopecia androgenetica, male pattern baldness androgenetic alopecia disease_ontology DOID:0050801 androgenic alopecia 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 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. lschriml 2013-12-02T11:55:24Z MIM:615349 ORDO:75496 SNOMEDCT_US_2023_03_01:720861000 UMLS_CUI:C1869122 EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type disease_ontology XGPT deficiency defective biosynthesis of proteodermatan sulfate xylosylprotein 4-beta-galactosyltransferase deficiency DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 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 A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050803 glioblastoma classical subtype 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 A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050804 glioblastoma proneural subtype 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 A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050805 glioblastoma mesenchymal subtype 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 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. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050806 glioblastoma neural subtype 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 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. lschriml 2013-12-02T02:28:58Z MESH:C567196 MIM:612713 ORDO:168972 KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome disease_ontology DOID:0050807 Kahrizi syndrome 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 KHRZ A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. lschriml 2013-12-02T02:56:58Z MIM:601492 disease_ontology DOID:0050809 mucopolysaccharidosis IX A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII 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. lschriml 2013-12-02T03:46:44Z MESH:C531633 B7 deficiency disease_ontology DOID:0050810 biotin deficiency 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/ 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. lschriml 2013-12-04T12:52:02Z GARD:1465 GARD:1467 ICD10CM:E25 ICD9CM:255.2 MIM:201710 MIM:201810 MIM:201910 MIM:202010 MIM:202110 ORDO:418 SNOMEDCT_US_2023_03_01:154706003 UMLS_CUI:C0701163 adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH disease_ontology DOID:0050811 Xref MGI. congenital adrenal hyperplasia 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 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. lschriml 2013-12-04T01:24:55Z MESH:C567551 MIM:612847 spondyloepimetaphyseal dysplasia Pakistani type disease_ontology DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type 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 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. lschriml 2013-12-04T01:30:01Z MIM:143095 CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis disease_ontology DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations 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 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. lschriml 2013-12-05T12:12:10Z GARD:9679 MESH:C536958 MIM:605282 ORDO:363417 SNOMEDCT_US_2023_03_01:777998000 UMLS_CUI:C1854466 PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE disease_ontology DOID:0050814 temtamy preaxial brachydactyly syndrome 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 An eye and adnexa disease that is located_in the adnexa of the eye. lschriml 2013-12-05T12:55:42Z disease_ontology DOID:0050815 obsolete eye adnexa disease true An eye and adnexa disease that is located_in the adnexa of the eye. url:http://en.wikipedia.org/wiki/Accessory_visual_structures A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. lschriml 2013-12-05T01:10:52Z GARD:2781 MESH:C536480 MIM:236730 MIM:615112 MIM:PS236730 ORDO:2704 Ochoa syndrome hydronephrosis with peculiar facial expression disease_ontology DOID:0050816 urofacial syndrome 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 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. lschriml 2013-12-11T01:49:54Z GARD:181 MESH:D000080362 MIM:248200 MIM:600110 MIM:603786 STARGARDT DISEASE 1 disease_ontology DOID:0050817 Stargardt disease 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 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. lschriml 2013-12-11T02:48:06Z MIM:275350 TCN2 deficiency disease_ontology DOID:0050818 transcobalamin II deficiency 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 A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect. lschriml 2013-12-11T03:11:49Z disease_ontology DOID:0050819 obsolete Matthew-Wood syndrome true A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect. url:https://www.ncbi.nlm.nih.gov/pubmed/17236193 A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. lschriml 2014-02-12T01:35:05Z ICD10CM:I44.3 ICD9CM:426.10 MESH:D054537 NCI:C26703 SNOMEDCT_US_2023_03_01:58547007 UMLS_CUI:C0004245 AV block disease_ontology DOID:0050820 atrioventricular block MESH:D054537 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 An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node. lschriml 2014-02-12T01:39:42Z disease_ontology DOID:0050821 first-degree atrioventricular block 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 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. lschriml 2014-02-12T01:39:42Z second-degree heart block disease_ontology DOID:0050822 second-degree atrioventricular block 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 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. lschriml 2014-02-12T01:39:42Z complete AV block disease_ontology DOID:0050823 third-degree atrioventricular block 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 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. lschriml 2014-02-12T01:47:54Z SA node sinuatrial node disease_ontology DOID:0050824 sinoatrial node disease 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 A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. lschriml 2014-02-12T01:53:42Z disease_ontology DOID:0050825 endocardium disease 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 A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle. lschriml 2014-02-12T02:55:24Z DOID:13834 ICD10CM:I07 ICD9CM:397.0 SNOMEDCT_US_2023_03_01:49699002 UMLS_CUI:C0264776 RH. tricuspid valve disease Rheumatic disease of tricuspid valve Tricuspid disease disease of tricuspid valve rheumatic tricuspid valve disease disease_ontology DOID:0050826 tricuspid valve disease 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/ 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. lschriml 2014-02-12T03:03:38Z DOID:9814 MESH:D012214 rheumatic carditis disease_ontology DOID:0050827 rheumatic heart disease 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 A vascular disease that is located_in an artery. lschriml 2014-02-12T03:08:35Z disease_ontology DOID:0050828 artery disease A vascular disease that is located_in an artery. url:http://en.wikipedia.org/wiki/Artery#Pathology A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. lschriml 2014-02-18T12:20:15Z disease_ontology DOID:0050829 pericardium disease A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. url:http://en.wikipedia.org/wiki/Pericardium An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. lschriml 2014-02-18T12:41:09Z MESH:D058729 disease_ontology DOID:0050830 peripheral artery disease 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/ 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. lschriml 2014-02-24T10:14:57Z GARD:10037 MESH:C536841 MIM:604218 FENIB disease_ontology DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies 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 FENIB An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. lschriml 2014-02-24T10:29:22Z disease_ontology DOID:0050832 pyrimidine metabolic disorder An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. url:http://en.wikipedia.org/wiki/Pyrimidine_metabolism A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. lschriml 2014-02-24T10:29:22Z MIM:258900 disease_ontology DOID:0050833 orotic aciduria 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 A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. lschriml 2014-03-18T11:58:38Z GARD:29 MESH:D058747 MIM:214800 NCI:C75100 ORDO:138 SNOMEDCT_US_2023_03_01:47535005 UMLS_CUI:C0265354 UMLS_CUI:C2936502 CHARGE association disease_ontology DOID:0050834 CHARGE syndrome MESH:D058747 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 A dystonia that affects most or all of the body. lschriml 2014-03-18T01:13:36Z DOID:11910 DOID:11911 DOID:11912 DOID:14164 DOID:5159 DOID:531 ICD10CM:G24.1 ICD10CM:G24.2 ICD9CM:333.6 ICD9CM:333.8 MESH:D004422 MESH:D020821 NCI:C34564 NCI:C35437 NCI:C35438 NCI:C35527 SNOMEDCT_US_2023_03_01:192852006 SNOMEDCT_US_2023_03_01:192859002 SNOMEDCT_US_2023_03_01:22451001 SNOMEDCT_US_2023_03_01:230321007 SNOMEDCT_US_2023_03_01:267584007 UMLS_CUI:C0013423 UMLS_CUI:C0154674 UMLS_CUI:C0154675 UMLS_CUI:C0393598 UMLS_CUI:C0393601 UMLS_CUI:C0752207 familial dystonia fragments of torsion dystonia disease_ontology Dystonia 12 DOID:0050835 MESH:C538001 added from NeuroDevNet [WAK]. generalized dystonia A dystonia that affects most or all of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm Dystonia 12 MESH:C538001 A dystonia that is localized to a specific part of the body. lschriml 2014-03-18T01:13:36Z GARD:6458 disease_ontology DOID:0050836 focal dystonia A dystonia that is localized to a specific part of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A dystonia that involves two or more unrelated body parts. lschriml 2014-03-18T01:13:36Z disease_ontology DOID:0050837 multifocal dystonia A dystonia that involves two or more unrelated body parts. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A dystonia that affects two or more adjacent parts of the body. lschriml 2014-03-18T01:13:36Z disease_ontology DOID:0050838 segmental dystonia A dystonia that affects two or more adjacent parts of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation. lschriml 2014-03-18T01:30:33Z disease_ontology DOID:0050839 anismus 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 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. lschriml 2014-03-18T01:30:33Z GARD:10668 spasmodic torticollis disease_ontology DOID:0050840 cervical dystonia 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/ A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. lschriml 2014-03-18T01:30:33Z DOID:13467 ICD9CM:333.84 SNOMEDCT_US_2023_03_01:52008007 UMLS_CUI:C0154676 organic writer's cramp disease_ontology DOID:0050841 focal hand dystonia 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 A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. lschriml 2014-03-18T01:30:33Z disease_ontology DOID:0050842 oculogyric crisis A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. url:http://en.wikipedia.org/wiki/Oculogyric_crisis A focal dystonia that is characterized by distortions of the mouth and tongue. lschriml 2014-03-18T01:30:33Z disease_ontology DOID:0050843 oromandibular dystonia A focal dystonia that is characterized by distortions of the mouth and tongue. url:http://en.wikipedia.org/wiki/Oromandibular_dystonia A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. lschriml 2014-03-18T01:30:33Z laryngeal dystonia disease_ontology DOID:0050844 spasmodic dystonia 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 A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. lschriml 2014-03-18T01:33:33Z disease_ontology DOID:0050845 cranio-facial dystonia 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 A multifocal dystonia that involves the arm and leg on the same side of the body. lschriml 2014-03-18T01:39:30Z disease_ontology DOID:0050846 hemidystonia 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 A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. lschriml 2014-03-20T03:57:22Z ICD10CM:G47.3 ICD9CM:780.57 MESH:D012891 NCI:C26884 SNOMEDCT_US_2023_03_01:206750008 UMLS_CUI:C0037315 disease_ontology DOID:0050847 sleep apnea 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/ 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. lschriml 2014-03-20T03:57:22Z ICD10CM:G47.33 ICD9CM:327.23 MESH:D020181 MIM:107650 NCI:C116337 SNOMEDCT_US_2023_03_01:194441007 UMLS_CUI:C0520679 obstructive sleep apnea syndrome disease_ontology DOID:0050848 Xref MGI. obstructive sleep apnea 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 An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential. lschriml 2014-04-15T03:26:13Z disease_ontology DOID:0050849 periampullary adenoma 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/ 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. lschriml 2014-04-15T03:33:49Z disease_ontology DOID:0050850 diabetic encephalopathy 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 A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. lschriml 2014-04-15T03:40:31Z disease_ontology DOID:0050851 glomerulosclerosis A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. url:http://en.wikipedia.org/wiki/Glomerulosclerosis An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply. lschriml 2014-04-15T03:46:27Z disease_ontology DOID:0050852 limb ischemia 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 A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins. lschriml 2014-04-15T03:50:26Z disease_ontology DOID:0050853 chronic venous insufficiency 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 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. lschriml 2014-04-15T03:53:41Z GARD:8472 ICD10CM:M04.2 MEDDRA:10064569 MESH:D056587 MIM:191900 NCI:C119054 ORDO:575 SNOMEDCT_US_2023_03_01:15123008 UMLS_CUI:C0268390 MWS neutrophilic urticaria disease_ontology DOID:0050854 Muckle-Wells syndrome 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 MWS A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function. lschriml 2014-04-15T03:56:58Z disease_ontology DOID:0050855 renal fibrosis 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/ A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents. lschriml 2014-04-15T04:03:08Z disease_ontology DOID:0050856 oppositional defiant disorder 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 A syndrome that is characterized by sensorineural hearing loss and ovarian failure. lschriml 2014-04-24T01:56:35Z GARD:2542 MIM:233400 MIM:614129 MIM:615300 MIM:PS233400 ORDO:2855 disease_ontology DOID:0050857 Perrault syndrome 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 A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. lschriml 2014-04-24T02:06:30Z GARD:6985 MESH:C536026 MIM:602535 ORDO:561 disease_ontology DOID:0050858 Marshall-Smith syndrome 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 A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract. lschriml 2014-04-29T01:31:08Z disease_ontology DOID:0050859 hemorrhagic cystitis A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract. url:https://en.wikipedia.org/wiki/Hemorrhagic_cystitis An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum. lschriml 2014-05-05T03:14:49Z disease_ontology DOID:0050860 colorectal adenoma 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 A colorectal carcinoma that derives_from epithelial cells of glandular origin. lschriml 2014-05-05T03:16:55Z NCI:C5105 SNOMEDCT_US_2023_03_01:408645001 UMLS_CUI:C1319315 disease_ontology DOID:0050861 colorectal adenocarcinoma 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 A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity. lschriml 2014-05-05T03:25:57Z disease_ontology DOID:0050862 pyometritis 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 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. lschriml 2014-05-09T02:38:13Z disease_ontology DOID:0050863 arteritic anterior ischemic optic neuropathy 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 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. lschriml 2014-05-09T02:38:13Z non-arteritic anterior ischaemic optic neuropathy nonarteritic anterior ischaemic optic neuropathy nonarteritic anterior ischemic optic neuropathy disease_ontology DOID:0050864 non-arteritic anterior ischemic optic neuropathy 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/ A head and neck squamous cell carcinoma that is located_in the tongue. lschriml 2014-05-12T02:38:44Z NCI:C4648 SNOMEDCT_US_2023_03_01:276952000 UMLS_CUI:C0349566 disease_ontology DOID:0050865 tongue squamous cell carcinoma A head and neck squamous cell carcinoma that is located_in the tongue. url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma An oral cavity cancer that has_material_basis_in squamous cells. lschriml 2014-05-12T02:45:04Z GARD:7263 mouth squamous cell carcinoma disease_ontology DOID:0050866 oral squamous cell carcinoma An oral cavity cancer that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma 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. lschriml 2014-06-03T01:18:20Z opticoacoustic nerve atrophy with dementia disease_ontology DOID:0050867 obsolete Jensen syndrome true 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 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. lschriml 2014-06-25T05:07:35Z disease_ontology DOID:0050868 hepatocellular adenoma 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 An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body. lschriml 2014-06-25T05:08:30Z ICDO:8261/0 disease_ontology DOID:0050869 villous adenoma 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 A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. lschriml 2014-06-25T05:10:52Z bronchioalveolar carcinoma disease_ontology DOID:0050870 pulmonary adenocarcinoma in situ 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 A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue. lschriml 2014-06-25T05:14:03Z ICDO:8810/0 MESH:D005350 disease_ontology DOID:0050871 fibroma MESH:D005350 A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue. url:https://en.wikipedia.org/wiki/Fibroma A lung large cell carcinoma that derives_from neuroendocrine cells. lschriml 2014-06-25T05:17:11Z ICDO:8013/3 disease_ontology DOID:0050872 large cell neuroendocrine carcinoma A lung large cell carcinoma that derives_from neuroendocrine cells. url:https://www.ncbi.nlm.nih.gov/pubmed/15999058 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). lschriml 2014-06-25T05:24:10Z GARD:2356 ICDO:9690/3 MESH:D008224 MIM:151430 disease_ontology DOID:0050873 follicular lymphoma 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 lschriml 2014-06-25T05:31:24Z disease_ontology DOID:0050875 obsolete small cell neuroendocrine carcinoma of the lung true A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. lschriml 2014-07-09T01:28:09Z GARD:6002 MESH:D016767 NCI:C84619 SNOMEDCT_US_2023_03_01:717232005 UMLS_CUI:C0162510 disease_ontology DOID:0050876 Caroli disease 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 A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. lschriml 2014-07-09T03:35:41Z GARD:4203 MIM:PS260370 ORDO:2805 Agenesis of the dorsal pancreas partial pancreatic agenesis disease_ontology DOID:0050877 pancreatic agenesis 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 lschriml 2014-07-29T01:17:13Z Factor I deficiency Fibrinogen deficiency disease_ontology DOID:0050878 OMIM mapping confirmed by DO. [SN]. obsolete CLONE OF congenital afibrinogenemia true 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. lschriml 2014-08-04T01:52:12Z MIM:300623 FXTAS syndrome disease_ontology DOID:0050879 fragile X-associated tremor/ataxia syndrome 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 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. lschriml 2014-08-06T12:57:12Z DOID:0070076 GARD:10727 MIM:610443 ORDO:96169 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KdVS Koolen-De Vries syndrome disease_ontology DOID:0050880 Koolen de Vries syndrome 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 KdVS 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. lschriml 2014-08-06T02:30:16Z MESH:C563476 MIM:PS167320 ORDO:52430 IBMPFD inclusion body myopathy with Paget's disease of bone and frontotemporal dementia disease_ontology DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia 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 IBMPFD 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. lschriml 2014-08-06T03:51:03Z GARD:4953 MIM:600224 disease_ontology DOID:0050882 spinocerebellar ataxia type 5 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 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. lschriml 2014-08-06T04:09:42Z GARD:13264 MIM:614559 disease_ontology DOID:0050883 infantile cerebellar-retinal degeneration 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 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. lschriml 2014-08-07T11:44:31Z GARD:5287 MESH:C566029 MIM:615512 Triose phosphate-isomerase deficiency disease_ontology DOID:0050884 triosephosphate isomerase deficiency 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 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. lschriml 2014-08-07T12:04:30Z GARD:12312 MIM:614732 intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities disease_ontology DOID:0050885 IMAGe syndrome 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 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. lschriml 2014-08-07T12:18:56Z GARD:5372 ICD10CM:G11.4 MIM:275900 ORDO:101000 SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20 disease_ontology DOID:0050886 Troyer syndrome 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 SPG20 A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. lschriml 2014-08-11T03:58:35Z GARD:7784 MESH:C536974 MIM:107480 disease_ontology DOID:0050887 Townes-Brocks syndrome 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 An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. lschriml 2014-08-14T10:55:32Z disease_ontology DOID:0050888 syndromic intellectual disability 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 An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. lschriml 2014-08-14T10:57:36Z disease_ontology DOID:0050889 non-syndromic intellectual disability 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/ A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. lschriml 2014-08-14T03:29:17Z Synucleinopathies alpha Synucleinopathies disease_ontology DOID:0050890 synucleinopathy 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 An adrenal adenoma that is a benign tumor of the adrenal cortex. lschriml 2014-09-04T01:54:59Z ICDO:8370/0 adrenocortical adenoma disease_ontology DOID:0050891 adrenal cortical adenoma An adrenal adenoma that is a benign tumor of the adrenal cortex. url:http://en.wikipedia.org/wiki/Adrenocortical_adenoma A malignant pheochromocytoma that is characterized by overproduction of adrenaline. lschriml 2014-09-11T01:01:57Z disease_ontology DOID:0050892 adrenal gland pheochromocytoma 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 A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. lschriml 2014-09-11T01:53:07Z disease_ontology DOID:0050893 gallbladder adenoma 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 A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. lschriml 2014-09-11T02:44:50Z GARD:5747 ICDO:9310/0 MESH:D000564 disease_ontology DOID:0050894 ameloblastoma MESH:D000564 A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. url:http://en.wikipedia.org/wiki/Ameloblastoma A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. lschriml 2014-09-11T02:46:51Z disease_ontology DOID:0050895 bone ameloblastoma A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. url:http://en.wikipedia.org/wiki/Ameloblastoma A bone carcinoma that derives_from squamous epithelial cells. lschriml 2014-09-11T02:50:46Z disease_ontology DOID:0050896 bone squamous cell carcinoma A bone carcinoma that derives_from squamous epithelial cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A chondrosarcoma that is located_in bone. lschriml 2014-09-11T02:55:07Z disease_ontology DOID:0050897 bone chondrosarcoma A chondrosarcoma that is located_in bone. url:http://en.wikipedia.org/wiki/Chondrosarcoma A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. lschriml 2014-09-11T03:42:42Z disease_ontology DOID:0050898 phalanx chondroma A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. url:http://en.wikipedia.org/wiki/Chondroma A brain stem cancer that begins in the lower part of the brain on the floor of the skull. lschriml 2014-10-06T14:23:29Z disease_ontology DOID:0050899 brain stem medulloblastoma 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 A spinal chordoma that is located_in the sacrum. lschriml 2014-10-06T14:25:16Z disease_ontology DOID:0050900 sacrum chordoma A spinal chordoma that is located_in the sacrum. url:http://en.wikipedia.org/wiki/Sacrum url:http://www.cancer.gov/dictionary?CdrID=45297 A brain oligodendroglioma located_in the corpus callosum. lschriml 2014-10-06T14:26:18Z disease_ontology DOID:0050901 corpus callosum oligodendroglioma 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 An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. lschriml 2014-10-06T14:36:37Z DOID:0060105 DOID:168 DOID:3858 DOID:4981 GARD:7005 ICDO:9470/3 MESH:D008527 MESH:D018242 MIM:155255 NCI:C27294 NCI:C3222 NCI:C3716 ORDO:616 SNOMEDCT_US_2023_03_01:189925001 SNOMEDCT_US_2023_03_01:443333004 UMLS_CUI:C0025149 UMLS_CUI:C0206663 UMLS_CUI:C1334410 CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor disease_ontology DOID:0050902 OMIM mapping confirmed by DO. [SN]. medulloblastoma 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/ CNS PNET CPNET A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. lschriml 2014-10-08T16:00:54Z disease_ontology DOID:0050903 parietal lobe ependymoma A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. url:http://www.cancer.gov/dictionary?CdrID=46432 A salivary gland cancer that has_material_basis_in epithelial cells. lschriml 2014-10-08T16:52:58Z disease_ontology DOID:0050904 salivary gland carcinoma 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 A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. lschriml 2014-10-09T14:18:08Z GARD:7146 disease_ontology DOID:0050905 inflammatory myofibroblastic tumor 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 A sensory organ benign neoplasm that is located in the eye conjunctiva. lschriml 2014-10-13T11:47:25Z disease_ontology DOID:0050906 conjunctival nevus 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 A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. lschriml 2014-10-13T12:37:37Z disease_ontology DOID:0050907 mixed extragonadal germ cell cancer 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 A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. lschriml 2014-10-13T12:51:33Z GARD:7132 ICDO:9989/3 MESH:D009190 MIM:614286 UMLS_CUI:C2713368 disease_ontology DOID:0050908 myelodysplastic syndrome 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 A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production. lschriml 2014-10-13T14:17:40Z ICDO:9699/3 MIM:137245 NCI:C3898 MALT lymphoma MALT lymphoma of the dura mucosa-associated lymphoid tissue lymphoma disease_ontology DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue 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 A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-13T14:41:01Z caecum adenoma disease_ontology DOID:0050910 cecum adenoma A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Adenoma An appendix cancer that has_material_basis_in neurodendocrine cells. lschriml 2014-10-13T14:45:41Z appendix carcinoid endocrine tumour disease_ontology DOID:0050911 appendix carcinoid tumor 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 A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-13T14:56:27Z disease_ontology DOID:0050912 colon adenoma 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 A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. lschriml 2014-10-13T15:00:10Z disease_ontology DOID:0050913 large intestine adenocarcinoma A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. url:http://www.cancer.gov/dictionary?CdrID=46216 An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. lschriml 2014-10-13T15:07:10Z disease_ontology DOID:0050914 large intestine adenoma 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 An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-13T15:09:51Z NCI:C5546 rectum adenoma disease_ontology DOID:0050915 rectal adenoma An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Adenoma A mucoepidermoid carcinoma located_in the bronchus. lschriml 2014-10-13T15:13:54Z disease_ontology DOID:0050916 bronchus mucoepidermoid carcinoma A mucoepidermoid carcinoma located_in the bronchus. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. lschriml 2014-10-13T15:36:11Z disease_ontology DOID:0050917 lung combined type small cell adenocarcinoma 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 A vaginal cancer that has_material_basis_in epithelial cells. lschriml 2014-10-21T11:37:19Z disease_ontology DOID:0050918 vaginal carcinoma A vaginal cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A mucoepidermoid carcinoma located_in the trachea. lschriml 2014-10-21T11:42:42Z disease_ontology DOID:0050919 trachea mucoepidermoid carcinoma A mucoepidermoid carcinoma located_in the trachea. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma A tonsil cancer that has_material_basis_in squamous cells. lschriml 2014-10-21T11:48:00Z disease_ontology DOID:0050920 tonsil squamous cell carcinoma A tonsil cancer that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A pharynx cancer that has_material_basis_in squamous cells. lschriml 2014-10-21T11:54:00Z disease_ontology DOID:0050921 pharynx squamous cell carcinoma A pharynx cancer that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A gastrointestinal system cancer that has_material_basis_in epithelial cells. lschriml 2014-10-21T11:56:36Z disease_ontology DOID:0050922 gastrointestinal carcinoma A gastrointestinal system cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma 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. lschriml 2014-10-21T12:26:31Z SETTLE tumor SETTLE tumour spindle epithelial tumour with thymus-like differentiation tumour disease_ontology DOID:0050923 spindle epithelial tumor with thymus-like differentiation tumor 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 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. lschriml 2014-10-21T12:38:23Z disease_ontology DOID:0050924 striated muscle rhabdoid tumor 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 A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine. lschriml 2014-10-21T12:58:08Z intestinal carcinoid tumour MIM:114900 disease_ontology DOID:0050925 small intestine carcinoid neuroendocrine tumor 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 A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. lschriml 2014-10-21T13:00:15Z disease_ontology DOID:0050926 jejunal adenocarcinoma 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 A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-21T13:02:15Z disease_ontology DOID:0050927 duodenum adenoma A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Adenoma An ovarian cancer that has_material_basis_in melanoctyes. lschriml 2014-10-21T13:27:44Z disease_ontology DOID:0050928 ovarian melanoma 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 A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. lschriml 2014-10-21T13:51:49Z disease_ontology DOID:0050929 mucosal melanoma 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 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. lschriml 2014-10-21T14:04:40Z disease_ontology DOID:0050930 sublingual gland adenoid cystic carcinoma 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 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. lschriml 2014-10-21T14:09:29Z disease_ontology DOID:0050931 parotid gland adenoid cystic carcinoma 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 A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells. lschriml 2014-10-21T15:13:36Z disease_ontology DOID:0050932 lung mucoepidermoid carcinoma 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 An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. lschriml 2014-10-21T15:51:41Z disease_ontology DOID:0050933 ovarian serous carcinoma 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 An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. lschriml 2014-10-21T15:54:52Z clear-cell ovarian carcinoma disease_ontology DOID:0050934 ovarian clear cell carcinoma 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 An extracranial neuroblastoma that has_material_basis_in immature nerve cells. lschriml 2014-10-21T16:02:01Z disease_ontology DOID:0050935 cervical neuroblastoma 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 A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. lschriml 2014-10-22T10:25:45Z disease_ontology DOID:0050936 extra-adrenal pheochromocytoma 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 A retroperitoneal cancer that has_material_basis_in immature nerve cells. lschriml 2014-10-22T11:18:01Z disease_ontology DOID:0050937 retroperitoneal neuroblastoma 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 A breast carcinoma that derives_from breast lobules (milk glands). lschriml 2014-10-22T13:05:34Z ICDO:8520/3 NCI:C3771 disease_ontology DOID:0050938 breast lobular carcinoma 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 A uterine corpus cancer that is derives_from the inner lining of the uterus. lschriml 2014-10-22T14:26:22Z disease_ontology DOID:0050939 uterine corpus endometrial carcinoma A uterine corpus cancer that is derives_from the inner lining of the uterus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5165063/ An endocervical carcinoma that derives_from epithelial cells of glandular origin. lschriml 2014-10-24T15:51:48Z disease_ontology DOID:0050940 endocervical adenocarcinoma An endocervical carcinoma that derives_from epithelial cells of glandular origin. url:https://www.ncbi.nlm.nih.gov/pubmed/12207781 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. lschriml 2015-09-18T14:13:49Z MIM:611302 disease_ontology DOID:0050941 spastic ataxia 2 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 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. lschriml 2015-09-18T14:13:49Z MIM:611390 disease_ontology DOID:0050942 spastic ataxia 3 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 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. lschriml 2015-09-18T14:13:49Z MIM:613672 disease_ontology DOID:0050943 spastic ataxia 4 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 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. lschriml 2015-09-18T14:13:49Z MIM:614487 disease_ontology DOID:0050944 spastic ataxia 5 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 A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs. lschriml 2015-09-18T14:13:49Z MIM:108650 disease_ontology DOID:0050945 spastic ataxia 7 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 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. lschriml 2015-09-18T14:13:49Z GARD:4910 MESH:C536787 MIM:270550 disease_ontology DOID:0050946 Charlevoix-Saguenay spastic ataxia 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 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. lschriml 2015-10-01T12:10:26Z MIM:241530 disease_ontology DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria 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 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. lschriml 2015-10-01T12:10:30Z MIM:193100 disease_ontology DOID:0050948 autosomal dominant hypophosphatemic rickets 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 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. lschriml 2015-10-01T12:10:33Z MIM:241520 MIM:613312 ORDO:289176 disease_ontology DOID:0050949 autosomal recessive hypophosphatemic rickets 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 A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance. lschriml 2015-10-05T14:21:08Z MIM:PS213200 ORDO:1172 disease_ontology DOID:0050950 autosomal recessive cerebellar ataxia A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance. url:http://www.ncbi.nlm.nih.gov/books/NBK1138/ A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. lschriml 2015-10-05T14:38:17Z GARD:6614 disease_ontology DOID:0050951 hereditary ataxia 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 A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy. lschriml 2015-10-05T14:39:34Z MESH:C564815 disease_ontology DOID:0050952 spastic ataxia 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 A hereditary ataxia that is characterized by X-linked inheritance. lschriml 2015-10-05T15:41:09Z disease_ontology DOID:0050953 X-linked hereditary ataxia A hereditary ataxia that is characterized by X-linked inheritance. url:https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/ 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. lschriml 2015-10-05T16:07:27Z GARD:4071 MIM:164400 disease_ontology DOID:0050954 spinocerebellar ataxia type 1 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 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. lschriml 2015-10-05T16:07:27Z MIM:183090 disease_ontology DOID:0050955 spinocerebellar ataxia type 2 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 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene. lschriml 2015-10-05T16:07:27Z GARD:10351 MIM:183086 disease_ontology DOID:0050956 spinocerebellar ataxia type 6 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 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22. lschriml 2015-10-05T16:07:27Z GARD:9970 MIM:600223 ORDO:98765 SNOMEDCT_US_2023_03_01:715755008 UMLS_CUI:C0752122 SCA4 disease_ontology DOID:0050957 spinocerebellar ataxia type 4 GARD:9970 MIM:600223 ORDO:98765 UMLS_CUI:C0752122 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22. url:https://pubmed.ncbi.nlm.nih.gov/38035881/ url:https://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4 SCA4 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. lschriml 2015-10-05T16:07:27Z MIM:164500 disease_ontology DOID:0050958 spinocerebellar ataxia type 7 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 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. lschriml 2015-10-05T16:12:39Z MIM:608768 disease_ontology DOID:0050959 spinocerebellar ataxia type 8 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 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. lschriml 2015-10-05T16:12:39Z GARD:10474 MIM:603516 disease_ontology DOID:0050960 spinocerebellar ataxia type 10 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/ 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. lschriml 2015-10-05T16:12:39Z MIM:604432 disease_ontology DOID:0050961 spinocerebellar ataxia type 11 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 An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene. lschriml 2015-10-05T16:12:39Z MIM:604326 disease_ontology DOID:0050962 spinocerebellar ataxia type 12 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 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. lschriml 2015-10-05T16:12:39Z MIM:605259 disease_ontology DOID:0050963 spinocerebellar ataxia type 13 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 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene. lschriml 2015-10-05T16:12:39Z MIM:605361 disease_ontology DOID:0050964 spinocerebellar ataxia type 14 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 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene. lschriml 2015-10-05T16:12:39Z DOID:0050966 MIM:606658 spinocerebellar ataxia type 16 disease_ontology DOID:0050965 spinocerebellar ataxia type 15 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 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. lschriml 2015-10-05T16:12:39Z disease_ontology DOID:0050966 obsolete spinocerebellar ataxia type 16 true 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 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. lschriml 2015-10-05T16:12:39Z GARD:10469 MIM:607136 disease_ontology DOID:0050967 spinocerebellar ataxia type 17 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 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. lschriml 2015-10-05T16:12:39Z GARD:12372 MIM:604121 disease_ontology DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy 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 An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23. lschriml 2015-10-06T16:11:07Z GARD:9976 MIM:607458 disease_ontology DOID:0050969 spinocerebellar ataxia type 18 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 An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor. lschriml 2015-10-06T16:11:07Z GARD:12365 MIM:607346 disease_ontology DOID:0050970 spinocerebellar ataxia type 19/22 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 An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria. lschriml 2015-10-06T16:11:07Z GARD:9997 MIM:608687 disease_ontology DOID:0050971 spinocerebellar ataxia type 20 An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria. url:https://rarediseases.info.nih.gov/diseases/9997/spinocerebellar-ataxia-20 An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity. lschriml 2015-10-06T16:11:07Z GARD:9999 MIM:607454 disease_ontology DOID:0050972 spinocerebellar ataxia type 21 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 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. lschriml 2015-10-06T16:11:07Z MIM:610245 disease_ontology DOID:0050973 spinocerebellar ataxia type 23 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 An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21. lschriml 2015-10-06T16:11:07Z GARD:9996 MESH:C537202 MIM:608703 disease_ontology DOID:0050974 spinocerebellar ataxia type 25 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 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene. lschriml 2015-10-06T16:11:07Z GARD:9995 MESH:C537203 MIM:609306 disease_ontology DOID:0050975 spinocerebellar ataxia type 26 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 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. lschriml 2015-10-06T16:11:07Z DOID:0111794 GARD:9603 MIM:193003 autosomal dominant congenital nystagmus 4 congenital nystagmus 4 vestibulocerebellar disorder with predominant ocular signs disease_ontology DOID:0050976 spinocerebellar ataxia type 27 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 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. lschriml 2015-10-06T16:11:07Z MIM:610246 disease_ontology DOID:0050977 spinocerebellar ataxia type 28 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 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. lschriml 2015-10-06T16:11:07Z MIM:117360 disease_ontology DOID:0050978 spinocerebellar ataxia type 29 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 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene. lschriml 2015-10-06T16:11:07Z GARD:4950 MIM:613371 disease_ontology DOID:0050979 spinocerebellar ataxia type 30 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 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. lschriml 2015-10-06T16:11:07Z MIM:117210 disease_ontology DOID:0050980 spinocerebellar ataxia type 31 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 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. lschriml 2015-10-06T16:11:07Z MIM:133190 disease_ontology DOID:0050981 spinocerebellar ataxia type 34 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 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. lschriml 2015-10-06T16:11:07Z MIM:613908 disease_ontology DOID:0050982 spinocerebellar ataxia type 35 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 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. lschriml 2015-10-06T16:11:07Z MIM:614153 disease_ontology DOID:0050983 spinocerebellar ataxia type 36 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 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. lschriml 2015-10-06T16:11:07Z MIM:615945 disease_ontology DOID:0050984 spinocerebellar ataxia type 37 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 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. lschriml 2015-10-06T16:11:07Z MIM:615957 disease_ontology DOID:0050985 spinocerebellar ataxia type 38 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 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. lschriml 2015-10-06T16:11:07Z MIM:616053 disease_ontology DOID:0050986 spinocerebellar ataxia type 40 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 An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities. lschriml 2015-10-06T16:24:06Z disease_ontology DOID:0050987 hypomyelinating leukoencephalopathy 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 An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss. lschriml 2015-10-06T16:24:06Z disease_ontology DOID:0050988 GRID2-related spinocerebellar ataxia 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/ 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. lschriml 2015-10-06T16:26:26Z MIM:160120 disease_ontology DOID:0050989 episodic ataxia type 1 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 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. lschriml 2015-10-06T16:26:26Z MESH:C535506 MIM:108500 disease_ontology DOID:0050990 episodic ataxia type 2 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 An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance. lschriml 2015-10-06T16:26:26Z MIM:606554 disease_ontology DOID:0050991 episodic ataxia type 3 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 An episodic ataxia that is characterized by vertigo and diplopia. lschriml 2015-10-06T16:26:26Z MIM:606552 disease_ontology DOID:0050992 episodic ataxia type 4 An episodic ataxia that is characterized by vertigo and diplopia. url:https://www.omim.org/entry/606552 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. lschriml 2015-10-06T16:26:26Z MIM:613855 disease_ontology DOID:0050993 episodic ataxia type 5 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 An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene. lschriml 2015-10-06T16:26:26Z MIM:612656 disease_ontology DOID:0050994 episodic ataxia type 6 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 An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance. lschriml 2015-10-06T16:26:26Z MIM:611907 disease_ontology DOID:0050995 episodic ataxia type 7 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 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. lschriml 2015-10-07T13:38:56Z MIM:616055 disease_ontology DOID:0050996 episodic ataxia type 8 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 A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. lschriml 2015-10-07T13:48:09Z GARD:1998 MESH:C535731 MIM:PS224050 ORDO:1766 UMLS_CUI:C0394006 CAMRQ CAMRQ syndrome DES UTS Uner Tan syndrome cerebellar ataxia and mental retardation with or without quadrupedal locomotion cerebellar ataxia, mental retardation, and disequilibrium syndrome cerebellar ataxia, mental retardation, and dysequilibrium syndrome disease_ontology disequilibrium syndrome dysequilibrium syndrome DOID:0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome GARD:1998 MESH:C535731 MIM:PS224050 ORDO:1766 UMLS_CUI:C0394006 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/28013290/ url:https://pubmed.ncbi.nlm.nih.gov/33981800/ url:https://pubmed.ncbi.nlm.nih.gov/38109455/ url:https://pubmed.ncbi.nlm.nih.gov/38581205/ CAMRQ DES UTS 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. lschriml 2015-10-07T14:08:24Z MIM:614756 disease_ontology DOID:0050998 nonprogressive cerebellar ataxia with mental retardation 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 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. lschriml 2015-10-07T14:43:23Z MIM:613728 SCAR10 disease_ontology DOID:0050999 autosomal recessive spinocerebellar ataxia 10 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 SCAR10 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. disease_ontology DOID:0051000 autoinflammatory disease 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/ A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. MIM:619789 disease_ontology DOID:0051001 congenital dyserythropoietic anemia type IIIb A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/36200420/ A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13. MIM:620969 disease_ontology DOID:0051002 congenital dyserythropoietic anemia type IVb A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13. url:https://pubmed.ncbi.nlm.nih.gov/25724378/ A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia. MIM:300908 disease_ontology DOID:0051003 congenital nonspherocytic hemolytic anemia 1 A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia. url:https://pubmed.ncbi.nlm.nih.gov/18177777/ disease_ontology url:https://pubmed.ncbi.nlm.nih.gov/18177777/ A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34. MIM:612631 disease_ontology DOID:0051004 congenital nonspherocytic hemolytic anemia 3 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/10233365/ A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13. MIM:613470 disease_ontology DOID:0051005 congenital nonspherocytic hemolytic anemia 4 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/8218542/ A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22. MIM:235700 disease_ontology DOID:0051006 congenital nonspherocytic hemolytic anemia 5 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22. url:https://pubmed.ncbi.nlm.nih.gov/12393545/ A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14. MIM:266120 disease_ontology DOID:0051007 congenital nonspherocytic hemolytic anemia 8 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14. url:https://pubmed.ncbi.nlm.nih.gov/11369620/ A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11. MIM:301083 disease_ontology DOID:0051008 congenital nonspherocytic hemolytic anemia 9 A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11. url:https://pubmed.ncbi.nlm.nih.gov/35030251/ A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21. MIM:618660 disease_ontology DOID:0051009 congenital nonspherocytic hemolytic anemia 10 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21. url:https://pubmed.ncbi.nlm.nih.gov/17185460/ An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities. MIM:PS619720 disease_ontology DOID:0051010 Bryant-Li-Bhoj neurodevelopmental syndrome An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities. url:https://www.ncbi.nlm.nih.gov/books/NBK595206/ A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42. MIM:619720 disease_ontology DOID:0051011 Bryant-Li-Bhoj neurodevelopmental syndrome 1 A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42. url:https://pubmed.ncbi.nlm.nih.gov/38678163/ url:https://www.ncbi.nlm.nih.gov/books/NBK595206/ A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25. MIM:619721 disease_ontology DOID:0051012 Bryant-Li-Bhoj neurodevelopmental syndrome 2 A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25. url:https://pubmed.ncbi.nlm.nih.gov/38678163/ url:https://www.ncbi.nlm.nih.gov/books/NBK595206/ A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13. GARD:10681 MIM:612462 ORDO:79444 PHP Ic disease_ontology DOID:0051013 PHP Ic appears to differ from PHP Ia (DOID:0080053) only in that patients retain erythrocyte Gs activity. pseudohypoparathyroidism type 1C A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/18372789/ PHP Ic An adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging. MIM:621061 disease_ontology DOID:0051014 atypical autosomal dominant adult-onset demyelinating leukodystrophy An adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging. url:https://pubmed.ncbi.nlm.nih.gov/39078102/ A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. MIM:PS169500 ORDO:99027 Autosomal dominant leukodystrophy with autonomic disease autosomal dominant adult-onset demyelinating leukodystrophy disease_ontology DOID:0051015 adult onset demyelinating leukodystrophy A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. url:https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease/ A visceral heterotaxy that is characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach and that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26. MIM:306955 disease_ontology DOID:0051016 visceral heterotaxy 1 A visceral heterotaxy that is characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach and that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26. url:https://pubmed.ncbi.nlm.nih.gov/18456715/ A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21. MIM:605376 disease_ontology DOID:0051017 visceral heterotaxy 2 A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21. url:https://pubmed.ncbi.nlm.nih.gov/11062482/ A visceral heterotaxy that has been mapped to chromosome 6q21. MIM:606325 disease_ontology DOID:0051018 visceral heterotaxy 3 A visceral heterotaxy that has been mapped to chromosome 6q21. url:https://pubmed.ncbi.nlm.nih.gov/11562933/ A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22. MIM:613751 disease_ontology DOID:0051019 visceral heterotaxy 4 A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22. url:https://pubmed.ncbi.nlm.nih.gov/9916847/ A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21. MIM:614779 disease_ontology DOID:0051020 visceral heterotaxy 6 A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21. url:https://pubmed.ncbi.nlm.nih.gov/22577226/ A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26. MIM:616749 disease_ontology DOID:0051021 visceral heterotaxy 7 A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26. url:https://pubmed.ncbi.nlm.nih.gov/26437028/ A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12. MIM:617205 disease_ontology DOID:0051022 visceral heterotaxy 8 A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12. url:https://pubmed.ncbi.nlm.nih.gov/27616478/ A visceral heterotaxy that is characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia and that has_material_basis_in homozygous mutation in the MNS1 gene on chromosome 15q21. MIM:618948 disease_ontology DOID:0051023 visceral heterotaxy 9 A visceral heterotaxy that is characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia and that has_material_basis_in homozygous mutation in the MNS1 gene on chromosome 15q21. url:https://pubmed.ncbi.nlm.nih.gov/31534215/ A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13. MIM:619607 disease_ontology DOID:0051024 visceral heterotaxy 10 A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/33139725/ A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23. MIM:619608 disease_ontology DOID:0051025 visceral heterotaxy 11 A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23. url:https://pubmed.ncbi.nlm.nih.gov/33139725/ A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11. MIM:619702 disease_ontology DOID:0051026 visceral heterotaxy 12 A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11. url:https://pubmed.ncbi.nlm.nih.gov/33139725/ A visceral heterotaxy that is characterized by heterotaxy and congenital heart disease and that has_material_basis_in homozygous mutation in the DAND5 gene on chromosome 19p13. MIM:621079 disease_ontology DOID:0051027 visceral heterotaxy 13 A visceral heterotaxy that is characterized by heterotaxy and congenital heart disease and that has_material_basis_in homozygous mutation in the DAND5 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/36316122/ A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. MIM:607706 disease_ontology DOID:0051028 autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. url:https://pubmed.ncbi.nlm.nih.gov/15358725/ A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42. MIM:621071 disease_ontology DOID:0051029 mitochondrial DNA depletion syndrome-21 A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42. url:https://pubmed.ncbi.nlm.nih.gov/39230499/ An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. MIM:621060 NEDMISH disease_ontology DOID:0051030 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. url:https://pubmed.ncbi.nlm.nih.gov/39306721/ A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31. MIM:617914 disease_ontology DOID:0051031 primary autosomal recessive microcephaly 20 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31. url:https://pubmed.ncbi.nlm.nih.gov/29343805/ A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13. MIM:617983 disease_ontology DOID:0051032 primary autosomal recessive microcephaly 21 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13. url:https://pubmed.ncbi.nlm.nih.gov/35568357/ A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25. MIM:617984 disease_ontology DOID:0051033 primary autosomal recessive microcephaly 22 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25. url:https://pubmed.ncbi.nlm.nih.gov/27737959/ A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11. MIM:617985 disease_ontology DOID:0051034 primary autosomal recessive microcephaly 23 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11. url:https://pubmed.ncbi.nlm.nih.gov/27737959/ A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23. MIM:618179 disease_ontology DOID:0051035 primary autosomal recessive microcephaly 24 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23. url:https://pubmed.ncbi.nlm.nih.gov/30179222/ A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22. MIM:618351 disease_ontology DOID:0051036 primary autosomal recessive microcephaly 25 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22. url:https://pubmed.ncbi.nlm.nih.gov/30715179/ A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23. MIM:619179 disease_ontology DOID:0051037 autosomal dominant primary microcephaly 26 A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23. url:https://pubmed.ncbi.nlm.nih.gov/32910914/ A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13. MIM:619180 disease_ontology DOID:0051038 autosomal dominant primary microcephaly 27 A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/33033404/ A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13. MIM:619453 disease_ontology DOID:0051039 primary autosomal recessive microcephaly 28 A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13. url:https://pubmed.ncbi.nlm.nih.gov/33199730/ A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22. MIM:620047 disease_ontology DOID:0051040 primary autosomal recessive microcephaly 29 A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22. url:https://pubmed.ncbi.nlm.nih.gov/32286682/ A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13. MIM:620183 disease_ontology DOID:0051041 primary autosomal recessive microcephaly 30 A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13. url:https://pubmed.ncbi.nlm.nih.gov/35044816/ An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. MIM:621094 disease_ontology DOID:0051042 autosomal dominant distal hereditary motor neuronopathy 15 An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. url:https://pubmed.ncbi.nlm.nih.gov/37907725/ A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. MIM:621095 axonal Charcot-Marie-Tooth disease type 2JJ disease_ontology DOID:0051043 Charcot-Marie-Tooth disease axonal type 2JJ A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. url:https://pubmed.ncbi.nlm.nih.gov/31853710/ A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. MIM:619424 disease_ontology DOID:0051044 infantile-onset myofibrillar myopathy 12 with cardiomyopathy A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. url:https://pubmed.ncbi.nlm.nih.gov/23365102/ A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24. MIM:621078 disease_ontology DOID:0051045 myofibrillar myopathy 13 with rimmed vacuoles A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24. url:https://pubmed.ncbi.nlm.nih.gov/31403083/ A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23. MIM:621099 disease_ontology DOID:0051046 spondyloepimetaphyseal dysplasia, Li-Shao-Li type A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23. url:https://pubmed.ncbi.nlm.nih.gov/39414788/ A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14. MIM:620546 disease_ontology DOID:0051047 congenital disorder of glycosylation type IIbb A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14. url:https://pubmed.ncbi.nlm.nih.gov/37711075/ A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. MIM:301045 disease_ontology DOID:0051048 congenital disorder of glycosylation type IIr A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. url:https://pubmed.ncbi.nlm.nih.gov/29127204/ A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41. MIM:618885 disease_ontology DOID:0051049 congenital disorder of glycosylation type IIt A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41. url:https://pubmed.ncbi.nlm.nih.gov/32293671/ A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. MIM:619493 disease_ontology DOID:0051050 congenital disorder of glycosylation type IIv A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. url:https://pubmed.ncbi.nlm.nih.gov/34143952/ A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. MIM:619525 disease_ontology DOID:0051051 congenital disorder of glycosylation type IIw A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. url:https://pubmed.ncbi.nlm.nih.gov/33964207/ A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22. MIM:620200 disease_ontology DOID:0051052 congenital disorder of glycosylation type IIy A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22. url:https://pubmed.ncbi.nlm.nih.gov/32395830/ A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. MIM:620201 disease_ontology DOID:0051053 congenital disorder of glycosylation type IIz A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. url:https://pubmed.ncbi.nlm.nih.gov/35262690/ A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH). MIM:607080 disease_ontology DOID:0051055 46,XY gonadal dysgenesis with minifascicular neuropathy A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH). url:https://pubmed.ncbi.nlm.nih.gov/10483790/ An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. GARD:6337 disease_ontology DOID:0060000 infective endocarditis 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 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. disease_ontology DOID:0060001 withdrawal disorder 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 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. Quincke edema disease_ontology DOID:0060002 C1 inhibitor deficiency 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 ls:IEDB An autoimmune hypersensitivity disease located_in the central nervous system. disease_ontology DOID:0060004 autoimmune disease of central nervous system An autoimmune hypersensitivity disease located_in the central nervous system. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB 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. disease_ontology DOID:0060005 autoimmune disease of endocrine system 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/ ls:IEDB 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. disease_ontology DOID:0060006 obsolete artemis deficiency true 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 A severe combined immunodeficiency that affects the development and function of T cells. disease_ontology DOID:0060007 CD3zeta deficiency A severe combined immunodeficiency that affects the development and function of T cells. url:https://www.ncbi.nlm.nih.gov/pubmed/16264327 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. MIM:600802 disease_ontology DOID:0060008 janus kinase-3 deficiency 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 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. MIM:604571 BLS, TYPE I BLSI HLA CLASS I DEFICIENCY bare lymphocyte syndrome type I disease_ontology DOID:0060009 OMIM mapping confirmed by DO. [SN]. MHC class I deficiency 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 BLSI 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. GARD:8198 ICD10CM:D81.8 MIM:603554 combined immunodeficiency with hypereosinophilia disease_ontology DOID:0060010 Omenn syndrome 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 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. disease_ontology DOID:0060011 recombinase activating gene 1 deficiency 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 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. disease_ontology DOID:0060012 recombinase activating gene 2 deficiency 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 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. DOID:5811 GARD:5618 MESH:D053632 MIM:300400 NCI:C4682 SNOMEDCT_US_2023_03_01:203592006 UMLS_CUI:C1279481 SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia disease_ontology DOID:0060013 OMIM mapping confirmed by DO. [LS]. X-linked severe combined immunodeficiency 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 SCID-X1 XSCID 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. disease_ontology DOID:0060014 CD45 deficiency 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 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. IL-7R disease_ontology DOID:0060015 Duplicate term. Use 'term replaced by' instead. [JAB] obsolete interleukin-7 receptor alpha deficiency true 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 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. CD3D disease_ontology DOID:0060016 CD3delta deficiency 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 CD3D 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. disease_ontology DOID:0060017 CD3epsilon deficiency 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 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. disease_ontology DOID:0060018 CD3gamma deficiency 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 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. MIM:615401 disease_ontology DOID:0060019 coronin-1A deficiency 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 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. DOID:1226 GARD:8625 MESH:C538361 MIM:267500 NCI:C27070 SNOMEDCT_US_2023_03_01:111584000 UMLS_CUI:C0272167 De Vaal disease disease_ontology aleukocytosis DOID:0060020 OMIM mapping confirmed by DO. [SN]. reticular dysgenesis 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? 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. MIM:606593 LIG4 Syndrome disease_ontology DOID:0060021 OMIM mapping confirmed by DO. [SN]. DNA ligase IV deficiency 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 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. MIM:308230 HIGMX-1 X-linked hyper-IgM syndrome disease_ontology DOID:0060022 CD40 ligand deficiency 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 HIGMX-1 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. GARD:10579 MIM:606843 NCI:C176416 ORDO:101090 UMLS_CUI:C1720957 CD40 deficiency HIGM3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency disease_ontology DOID:0060023 immunodeficiency with hyper IgM type 3 GARD:10579 MIM:606843 NCI:C176416 ORDO:101090 UMLS_CUI:C1720957 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 HIGM3 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. disease_ontology DOID:0060024 lambda 5 deficiency 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? A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor. GARD:10197 MESH:D017098 MIM:137100 MIM:269650 MIM:609529 ORDO:69127 SNOMEDCT_US_2023_03_01:29260007 UMLS_CUI:C0162538 IgA deficiency gamma-A-globulin deficiency disease_ontology DOID:0060025 Xref MGI. immunoglobulin alpha deficiency 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? 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. disease_ontology IgB deficiency DOID:0060026 immunoglobulin beta deficiency 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 An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. MIM:613502 B cell linker protein deficiency B-cell linker protein deficiency BLNK deficiency disease_ontology DOID:0060027 agammaglobulinemia 4 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 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. thymoma with hypogammaglobulinemia disease_ontology DOID:0060028 Good syndrome 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/ 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. disease_ontology DOID:0060029 autoimmune disease of exocrine system 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/ ls:IEDB An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. disease_ontology DOID:0060030 autoimmune disease of eyes, ear, nose and throat 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/ ls:IEDB 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. disease_ontology DOID:0060031 autoimmune disease of gastrointestinal tract 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/ ls:IEDB 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. disease_ontology DOID:0060032 autoimmune disease of musculoskeletal system 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/ ls:IEDB 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. disease_ontology DOID:0060033 autoimmune disease of peripheral nervous system 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/ ls:IEDB 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. floppy head syndrome disease_ontology DOID:0060034 dropped head syndrome 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 A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. disease_ontology DOID:0060035 obsolete medical disorder true 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 A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. disease_ontology DOID:0060036 intrinsic cardiomyopathy 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 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. disease_ontology DOID:0060037 developmental disorder of mental health 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 A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. disease_ontology DOID:0060038 specific developmental disorder 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 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. disease_ontology DOID:0060039 autoimmune disease of skin and connective tissue 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/ ls:IEDB 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. DOID:1208 ICD9CM:299.80 UMLS_CUI:C0154451 Pervasive Child Development Disorders pervasive development disorder disease_ontology DOID:0060040 pervasive developmental disorder 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 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. GARD:10248 MESH:D000067877 disease_ontology DOID:0060041 autism spectrum disorder 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 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. PDD disease_ontology DOID:0060042 atypical autism 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 PDD A disease of mental health that involves the impairment in normal sexual functioning. disease_ontology DOID:0060043 sexual health disorder A disease of mental health that involves the impairment in normal sexual functioning. url:https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects. disease_ontology DOID:0060044 paraphilia disorder 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 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. disease_ontology DOID:0060045 Munchausen by proxy 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 A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language. MESH:D001037 disease_ontology DOID:0060046 aphasia MESH:D001037 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 A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. disease_ontology DOID:0060047 writing disorder 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 A specific phobia that involves an irrational fear of contracting a disease. disease_ontology DOID:0060048 nosophobia A specific phobia that involves an irrational fear of contracting a disease. url:http://en.wikipedia.org/wiki/Nosophobia 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. disease_ontology DOID:0060049 autoimmune disease of urogenital tract 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/ ls:IEDB 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. disease_ontology DOID:0060050 autoimmune disease of blood 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/ ls:IEDB 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. disease_ontology DOID:0060051 autoimmune disease of cardiovascular system 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/ ls:IEDB 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. disease_ontology DOID:0060052 obsolete neurological disorder true 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 A neuropathy that is located_in nerves of the peripheral nervous system. disease_ontology DOID:0060053 obsolete peripheral neuropathy true A neuropathy that is located_in nerves of the peripheral nervous system. url:http://en.wikipedia.org/wiki/Sensory_neuropathy A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence. disease_ontology DOID:0060054 autonomic peripheral neuropathy 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 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. emitraka 2015-02-04T14:16:39Z GARD:3242 MESH:C562509 MIM:119500 MIM:263650 NCI:C118786 ORDO:1300 ORDO:294963 SNOMEDCT_US_2023_03_01:205820002 UMLS_CUI:C0265259 facio-genito-popliteal syndrome popliteal web syndrome disease_ontology DOID:0060055 NT MGI. popliteal pterygium syndrome 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 An immune system disease that has_material_basis_in abnormal immune responses. disease_ontology DOID:0060056 hypersensitivity reaction disease 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/ 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. allergy to gluten gluten allergic reaction disease_ontology DOID:0060057 gluten allergy 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 A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. DOID:1033 DOID:353 ICD10CM:C85.9 ICDO:9590/3 MESH:D008223 NCI:C3208 NCI:C7065 SNOMEDCT_US_2023_03_01:118600007 SNOMEDCT_US_2023_03_01:414628006 UMLS_CUI:C0024299 UMLS_CUI:C0598798 lymphoid cancer disease_ontology DOID:0060058 lymphoma 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 A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. ICD10CM:C85.9 ICDO:9591/3 MESH:D008228 MIM:605027 NCI:C3211 ORDO:547 SNOMEDCT_US_2023_03_01:118601006 UMLS_CUI:C0024305 disease_ontology DOID:0060060 OMIM mapping confirmed by DO. [LS]. non-Hodgkin lymphoma 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 A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells. GARD:6226 MESH:D016410 NCI:C3467 cutaneous T cell lymphoma cutaneous T-cell lymphoma disease_ontology DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma 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 A kidney disease that is characterized by normal urinalysis and slowly progressive chronic kidney disease, usually first noted in the teen years and progressing to end-stage renal disease between the third and seventh decades. MIM:PS162000 ORDO:34149 HNFJ MCKD familial juvenile hyperuricemic nephropathy medullary cystic kidney disease disease_ontology DOID:0060062 Xref MGI. OMIM mapping confirmed by DO. [LS]. autosomal dominant tubulointerstitial kidney disease MIM:614227 A kidney disease that is characterized by normal urinalysis and slowly progressive chronic kidney disease, usually first noted in the teen years and progressing to end-stage renal disease between the third and seventh decades. url:https://www.ncbi.nlm.nih.gov/books/NBK1356/ HNFJ MCKD 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. GARD:9456 MIM:300751 X-linked sideroblastic anaemia X-linked sideroblastic anemia XLSA sideroblastic anaemia 1 disease_ontology DOID:0060063 OMIM mapping confirmed by DO. [LS]. sideroblastic anemia 1 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 XLSA 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. ASAT disease_ontology DOID:0060064 OMIM mapping confirmed by DO. [LS]. obsolete sideroblastic anemia with spinocerebellar ataxia true 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 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. MIM:205950 autosomal recessive pyridoxine-refractory sideroblastic anaemia 2 pyridoxine-refractory autosomal recessive sideroblastic anaemia pyridoxine-refractory autosomal recessive sideroblastic anemia disease_ontology DOID:0060065 OMIM mapping confirmed by DO. [LS]. autosomal recessive pyridoxine-refractory sideroblastic anemia 2 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 A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance. MIM:206000 disease_ontology DOID:0060066 OMIM mapping confirmed by DO. [LS]. pyridoxine-responsive sideroblastic anemia 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 A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. GARD:7343 MIM:557000 Pearson Marrow-Pancreas Syndrome disease_ontology DOID:0060067 OMIM mapping confirmed by DO. [LS]. Pearson syndrome A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. url:http://en.wikipedia.org/wiki/Pearson_syndrome An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. lschriml 2011-04-13T03:14:26Z MESH:D059905 marantic endocarditis non-bacterial thrombotic endocarditis disease_ontology DOID:0060068 nonbacterial thrombotic endocarditis An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. url:http://en.wikipedia.org/wiki/Marantic_endocarditis lschriml 2011-04-15T11:41:26Z disease_ontology DOID:0060069 obsolete Bacillus cereus pneumonia true 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. lschriml 2011-05-11T12:18:41Z disease_ontology DOID:0060071 pre-malignant neoplasm 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 A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. lschriml 2011-05-11T12:18:41Z disease_ontology DOID:0060072 benign neoplasm 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 An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. lschriml 2011-05-11T01:05:14Z disease_ontology DOID:0060073 lymphatic system cancer 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 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. lschriml 2011-06-08T12:19:28Z disease_ontology DOID:0060074 ductal carcinoma in situ 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 A breast cancer that is characterized by the presence of estrogen receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060075 estrogen-receptor positive breast cancer 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 A breast cancer that is characterized by the absence of estrogen receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060076 estrogen-receptor negative breast cancer 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 A breast cancer that is characterized by the presence of progesterone receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060077 progesterone-receptor positive breast cancer 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 A breast cancer that is characterized by the absence of progesterone receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060078 progesterone-receptor negative breast cancer 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 A breast cancer that is characterized by the presence of Her2 receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060079 Her2-receptor positive breast cancer 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 A breast cancer that is characterized by the absence of Her2 receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060080 Her2-receptor negative breast cancer A breast cancer that is characterized by the absence of Her2 receptors. url:https://www.ncbi.nlm.nih.gov/pubmed/25682076 A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060081 triple-receptor negative breast cancer A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors. url:https://www.ncbi.nlm.nih.gov/pubmed/22826413 A thoracic benign neoplasm that is characterized by lack of malignancy. lschriml 2011-06-08T01:02:29Z disease_ontology DOID:0060082 breast benign neoplasm A thoracic benign neoplasm that is characterized by lack of malignancy. url:https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions.html An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. lschriml 2011-06-08T01:11:18Z ICDO:9392/3 disease_ontology DOID:0060083 immune system cancer 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 A benign neoplasm that is classified by the type of cell or tissue from which it is derived. lschriml 2011-07-14T11:59:48Z disease_ontology DOID:0060084 cell type benign neoplasm 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 A benign neoplasm that is classified by the organ system from which it is arising from. lschriml 2011-07-14T12:12:23Z NCI:C3677 disease_ontology DOID:0060085 organ system benign neoplasm 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 A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system. lschriml 2011-07-14T12:20:52Z disease_ontology DOID:0060086 female reproductive organ benign neoplasm 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/ A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system. lschriml 2011-07-14T12:20:52Z disease_ontology DOID:0060087 male reproductive organ benign neoplasm 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/ A female reproductive organ benign neoplasm that is located_in the vestibular gland. lschriml 2011-07-14T12:36:54Z disease_ontology DOID:0060088 vestibular gland benign neoplasm 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 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. lschriml 2011-07-14T01:45:15Z disease_ontology DOID:0060089 endocrine organ benign neoplasm 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 A nervous system benign neoplasm that is characterized by lack of malignancy. lschriml 2011-07-14T01:45:15Z disease_ontology DOID:0060090 central nervous system benign neoplasm A nervous system benign neoplasm that is characterized by lack of malignancy. url:https://www.cancer.gov/types/brain/patient/adult-brain-treatment-pdq An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. lschriml 2011-07-14T01:45:15Z disease_ontology DOID:0060091 cardiovascular organ benign neoplasm 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 An organ system benign neoplasm located_in the immune system organs. lschriml 2011-07-14T01:58:49Z disease_ontology DOID:0060092 immune system organ benign neoplasm An organ system benign neoplasm located_in the immune system organs. url:http://en.wikipedia.org/wiki/Immune_system A connective tissue benign neoplasm that is located_in bone. lschriml 2011-07-15T01:34:59Z disease_ontology DOID:0060094 bone benign neoplasm A connective tissue benign neoplasm that is located_in bone. url:http://en.wikipedia.org/wiki/Bone_tumor A female reproductive organ benign neoplasm that is located_in the uterus. lschriml 2011-07-15T01:42:11Z DOID:0060113 disease_ontology DOID:0060095 uterine benign neoplasm 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/ A nervous system benign neoplasm that is located_in a sensory organ. lschriml 2011-07-15T01:45:26Z disease_ontology DOID:0060096 sensory organ benign neoplasm A nervous system benign neoplasm that is located_in a sensory organ. url:http://en.wikipedia.org/wiki/Sensory_system An organ system benign neoplam that is located_in the thoracic cavity. lschriml 2011-07-15T01:55:57Z disease_ontology DOID:0060097 thoracic benign neoplasm An organ system benign neoplam that is located_in the thoracic cavity. url:http://en.wikipedia.org/wiki/Thoracic_cavity A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas. lschriml 2011-07-15T02:14:40Z ICDO:9200/0 MESH:D018215 disease_ontology DOID:0060098 osteoblastoma 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 An organ system benign neoplasm that is located_in the muscular and skeletal organs. lschriml 2011-07-15T02:28:52Z disease_ontology DOID:0060099 musculoskeletal system benign neoplasm An organ system benign neoplasm that is located_in the muscular and skeletal organs. url:http://en.wikipedia.org/wiki/Musculoskeletal_system An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. lschriml 2011-07-15T02:30:51Z DOID:0060124 skeletal system cancer disease_ontology DOID:0060100 musculoskeletal system cancer 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 A cell type benign neoplasm that has_material_basis_in glial cells. lschriml 2011-07-19T01:27:04Z disease_ontology DOID:0060101 obsolete benign glioma true A cell type benign neoplasm that has_material_basis_in glial cells. url:http://www.cancer.gov/dictionary?CdrID=45700 A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. lschriml 2011-07-20T01:40:49Z disease_ontology DOID:0060102 cartilage cancer A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. url:https://en.wikipedia.org/wiki/Cartilage_tumor 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. lschriml 2011-07-21T02:24:10Z ICDO:9473/3 NCI:C5398 CNS embryonal tumour, NEC/NOS central nervous system primitive neuroectodermal neoplasm disease_ontology DOID:0060103 central nervous system embryonal tumor 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 A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. lschriml 2011-07-21T02:28:01Z disease_ontology DOID:0060104 cerebellar medulloblastoma 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 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. lschriml 2011-07-21T05:39:28Z disease_ontology DOID:0060106 brain meningioma 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 A brain cancer that has_material_basis_in glial cells. lschriml 2011-07-22T12:42:50Z lower grade glioma disease_ontology DOID:0060108 brain glioma 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 A female reproductive organ benign neoplasm that is located_in the vulva. lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060109 vulvar benign neoplasm A female reproductive organ benign neoplasm that is located_in the vulva. url:https://www.ncbi.nlm.nih.gov/pubmed/25220103 A female reproductive organ benign neoplasm that is located_in the cervix. lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060110 cervical benign neoplasm A female reproductive organ benign neoplasm that is located_in the cervix. url:https://www.ncbi.nlm.nih.gov/pubmed/8400047 A female reproductive organ benign neoplasm that is located_in the fallopian tube. lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060111 fallopian tube benign neoplasm A female reproductive organ benign neoplasm that is located_in the fallopian tube. url:http://www.glowm.com/section_view/item/8 A female reproductive organ benign neoplasm that is located_in the ovary. lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060112 ovarian benign neoplasm A female reproductive organ benign neoplasm that is located_in the ovary. url:https://www.ncbi.nlm.nih.gov/pubmed/24992780 A female reproductive organ benign neoplasm that is located_in the vagina. lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060114 vaginal benign neoplasm 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 An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. lschriml 2011-07-25T12:47:43Z disease_ontology DOID:0060115 nervous system benign neoplasm 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 A nervous system cancer that is located in the sensory system. lschriml 2011-07-25T01:51:56Z disease_ontology DOID:0060116 sensory system cancer A nervous system cancer that is located in the sensory system. url:http://en.wikipedia.org/wiki/Sensory_system A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. lschriml 2011-07-25T02:20:33Z disease_ontology DOID:0060117 peritoneal benign neoplasm A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. url:http://en.wikipedia.org/wiki/Peritoneal A disease of anatomical entity that is located_in the thoracic cavity. lschriml 2011-07-25T02:23:47Z disease_ontology DOID:0060118 thoracic disease A disease of anatomical entity that is located_in the thoracic cavity. url:http://en.wikipedia.org/wiki/Thoracic_cavity A gastrointestinal system cancer that is located_in the pharynx. lschriml 2011-07-27T01:26:34Z MESH:D010610 NCI:C3325 SNOMEDCT_US_2023_03_01:126685009 UMLS_CUI:C0031347 pharyngeal neoplasm pharynx neoplasm disease_ontology pharyngeal cancer DOID:0060119 pharynx cancer A gastrointestinal system cancer that is located_in the pharynx. url:http://en.wikipedia.org/wiki/Pharynx lschriml 2011-07-27T01:46:00Z disease_ontology DOID:0060120 obsolete skeletal system benign neoplasm true An organ system benign neoplasm located_in the integumentary system organs. lschriml 2011-07-27T01:49:44Z disease_ontology DOID:0060121 integumentary system benign neoplasm An organ system benign neoplasm located_in the integumentary system organs. url:http://en.wikipedia.org/wiki/Integumentary_system An organ system cancer that is located_in the skin, hair and nails. lschriml 2011-07-27T02:31:34Z disease_ontology DOID:0060122 integumentary system cancer An organ system cancer that is located_in the skin, hair and nails. url:http://en.wikipedia.org/wiki/Integumentary_system A musculoskeletal system benign neoplasm that is located_in connective tissue. lschriml 2011-07-27T02:35:57Z DOID:177 MESH:D012983 NCI:C3377 SNOMEDCT_US_2023_03_01:126600002 UMLS_CUI:C0037579 mesenchymal tissue neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue disease_ontology DOID:0060123 connective tissue benign neoplasm A musculoskeletal system benign neoplasm that is located_in connective tissue. url:http://en.wikipedia.org/wiki/Connective_tissue_neoplasm A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. lschriml 2011-08-22T11:23:09Z ICD10CM:C88.2 ICDO:9762/3 MESH:D006362 NCI:C3082 NCI:C3083 NCI:C3892 SNOMEDCT_US_2023_03_01:61493004 SNOMEDCT_US_2023_03_01:6381009 SNOMEDCT_US_2023_03_01:68979007 UMLS_CUI:C0018852 UMLS_CUI:C0018854 UMLS_CUI:C0242310 disease_ontology DOID:0060125 heavy chain disease MESH:D006362 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 A heavy chain disease that results from an overproduction of alpha antibodies (IgA). lschriml 2011-08-22T11:23:09Z Seligmann's disease disease_ontology DOID:0060126 alpha chain disease A heavy chain disease that results from an overproduction of alpha antibodies (IgA). url:http://en.wikipedia.org/wiki/Heavy_chain_disease A heavy chain disease that results from an overproduction of gamma antibody (IgG). lschriml 2011-08-22T11:23:09Z GARD:10346 Franklin's disease disease_ontology DOID:0060127 gamma heavy chain disease A heavy chain disease that results from an overproduction of gamma antibody (IgG). url:https://pubmed.ncbi.nlm.nih.gov/2509855/ A heavy chain disease that results from an overproduction of mu antibody (IgM). lschriml 2011-08-22T11:23:09Z disease_ontology DOID:0060128 mu chain disease A heavy chain disease that results from an overproduction of mu antibody (IgM). url:http://en.wikipedia.org/wiki/Heavy_chain_disease A heavy chain disease that results from an overproduction of delta antibody (IgD). lschriml 2011-08-22T11:23:09Z disease_ontology DOID:0060129 delta chain disease A heavy chain disease that results from an overproduction of delta antibody (IgD). url:http://en.wikipedia.org/wiki/Heavy_chain_disease An agnosia that is a loss of motion perception. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060130 akinetopsia An agnosia that is a loss of motion perception. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a deficiency in understanding, processing, or describing emotions. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060131 alexithymia An agnosia that is a deficiency in understanding, processing, or describing emotions. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. lschriml 2011-08-22T12:04:56Z receptive amusia disease_ontology DOID:0060132 amusia An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060133 anosognosia 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 An agnosia that is a loss of the ability to distinguish visual shapes. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060134 apperceptive agnosia An agnosia that is a loss of the ability to distinguish visual shapes. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. lschriml 2011-08-22T12:04:56Z GARD:5838 ICD10CM:R48.2 MESH:D001072 NCI:C180557 SNOMEDCT_US_2023_03_01:271724003 UMLS_CUI:C0003635 disease_ontology DOID:0060135 apraxia MESH:D001072 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 An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060136 associative agnosia 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 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. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060137 auditory agnosia 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 An agnosia that is a loss of the ability to orient parts of the body. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060138 autotopagnosia An agnosia that is a loss of the ability to orient parts of the body. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060139 color agnosia 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 An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060140 cortical deafness 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 An agnosia that is a loss of the ability to distinguish the fingers on the hand. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060141 finger agnosia An agnosia that is a loss of the ability to distinguish the fingers on the hand. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060142 form agnosia 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 An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060143 integrative agnosia 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 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. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060144 mirror agnosia 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 An agnosia that is a loss of the ability to perceive and process pain. lschriml 2011-08-22T12:04:56Z analgesia disease_ontology DOID:0060145 pain agnosia An agnosia that is a loss of the ability to perceive and process pain. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize familiar voices. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060146 phonagnosia An agnosia that is a loss of the ability to recognize familiar voices. url:http://en.wikipedia.org/wiki/Agnosia 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. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060147 semantic agnosia 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 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. lschriml 2011-08-22T12:04:56Z GARD:11943 disease_ontology DOID:0060148 simultanagnosia 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 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. lschriml 2011-08-22T12:04:56Z expressive agnosia disease_ontology DOID:0060149 social emotional agnosia 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 An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. lschriml 2011-08-22T12:04:56Z somatosensory agnosia disease_ontology DOID:0060150 astereognosia 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 An agnosia that is a loss of the ability to recognize or identify objects by touch alone. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060151 tactile agnosia An agnosia that is a loss of the ability to recognize or identify objects by touch alone. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to comprehend the succession and duration of events. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060152 time agnosia An agnosia that is a loss of the ability to comprehend the succession and duration of events. url:http://en.wikipedia.org/wiki/Agnosia 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. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060153 topographical agnosia 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 An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060154 verbal auditory agnosia An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to visually recognize objects. lschriml 2011-08-22T12:04:56Z MESH:C531604 UMLS_CUI:C2930796 disease_ontology DOID:0060155 visual agnosia An agnosia that is a loss of the ability to visually recognize objects. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to comprehending the meaning of written words. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060156 visual verbal agnosia An agnosia that is a loss of the ability to comprehending the meaning of written words. url:http://en.wikipedia.org/wiki/Agnosia An alopecia areata that involves diffuse loss of hair over the whole scalp. lschriml 2011-08-22T03:45:02Z SNOMEDCT_US_2023_03_01:46586006 UMLS_CUI:C0263479 disease_ontology DOID:0060157 diffuse alopecia areata An alopecia areata that involves diffuse loss of hair over the whole scalp. url:http://en.wikipedia.org/wiki/Alopecia_areata 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. lschriml 2011-08-24T02:53:03Z disease_ontology DOID:0060158 acquired metabolic disease 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 An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. lschriml 2011-08-26T11:17:14Z GARD:9433 organic acid metabolism disorder organic aciduria disease_ontology DOID:0060159 organic acidemia 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 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. lschriml 2011-08-29T01:15:14Z GARD:7674 MESH:D014897 NCI:C85076 ORDO:70 UMLS_CUI:C0700595 spinal muscular atrophies of childhood survival motor neuron spinal muscular atrophy disease_ontology DOID:0060160 childhood spinal muscular atrophy 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 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. lschriml 2011-08-29T01:31:03Z GARD:6818 MESH:D055534 MIM:313200 NCI:C85233 SNOMEDCT_US_2023_03_01:230253001 UMLS_CUI:C1839259 Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy disease_ontology DOID:0060161 Kennedy's disease 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 SBMA 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. lschriml 2011-08-29T01:41:48Z GARD:5643 MESH:D020191 MIM:125370 NCI:C122653 SNOMEDCT_US_2023_03_01:702422004 UMLS_CUI:C0751781 DRPLA Haw River Syndrome Naito-Oyanagi disease disease_ontology DOID:0060162 dentatorubral-pallidoluysian atrophy MESH:D020191 NCI:C122653 UMLS_CUI:C0751781 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 DRPLA A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). lschriml 2011-09-07T01:38:34Z body dysmorphia dysmorphic syndrome dysmorphophobia disease_ontology DOID:0060163 body dysmorphic disorder 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 A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. lschriml 2011-09-07T01:42:46Z disease_ontology DOID:0060164 pain disorder 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 A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. lschriml 2011-09-07T02:46:02Z MESH:D017593 MIM:148840 disease_ontology DOID:0060165 Kleine-Levin syndrome 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 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. lschriml 2011-09-09T02:27:46Z disease_ontology DOID:0060166 bipolar ll disorder 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 A mental depression that involves presentation of depressive symptoms only during a specific season of the year. lschriml 2011-09-09T02:53:18Z MESH:D016574 winter depression disease_ontology DOID:0060167 seasonal affective disorder 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 A histidine metabolism disease characterized by a deficiency of the enzyme histidase. lschriml 2011-09-20T12:47:05Z GARD:6661 MESH:C538320 MIM:235800 histidinuria disease_ontology DOID:0060168 histidinemia 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 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. lschriml 2011-10-28T02:55:02Z GARD:1518 GARD:857 MIM:PS601764 ORDO:306 BFIC BFIE benign familial infantile convulsion benign familial infantile seizures disease_ontology DOID:0060169 Xref MGI. benign familial infantile epilepsy 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 BFIC BFIE An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. lschriml 2011-10-28T02:57:50Z ICD10CM:G40.3 MESH:C565808 ORDO:36387 GEFS+ disease_ontology DOID:0060170 Xref MGI. generalized epilepsy with febrile seizures plus 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 GEFS+ lschriml 2011-10-28T03:14:46Z disease_ontology DOID:0060171 obsolete Dravet syndrome true An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. lschriml 2011-11-08T10:42:18Z disease_ontology DOID:0060172 JA:Epilepsy Genetics Kiel juvenile absence epilepsy 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 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. lschriml 2011-11-08T12:52:33Z GARD:9294 ICD10CM:G72.3 MESH:C536962 MIM:601005 ORDO:65283 UMLS_CUI:C1832916 disease_ontology long QT syndrome with syndactyly DOID:0060173 Timothy syndrome UMLS_CUI:C1832916 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 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. lschriml 2011-11-08T01:52:22Z MIM:613163 Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency disease_ontology DOID:0060174 GABA aminotransferase deficiency 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 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. lschriml 2011-11-08T02:02:12Z MESH:C535803 MIM:271980 4-hydroxybutyric aciduria SSADH gamma-hydroxybutyric aciduria disease_ontology DOID:0060175 succinic semialdehyde dehydrogenase deficiency 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 SSADH An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. lschriml 2011-11-08T02:02:12Z disease_ontology DOID:0060176 gamma-amino butyric acid metabolism disorder An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. url:https://www.ncbi.nlm.nih.gov/pubmed/12891648 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. lschriml 2011-11-08T02:02:12Z GARD:2730 MESH:C535328 disease_ontology DOID:0060177 homocarnosinosis 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 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. lschriml 2011-11-08T02:54:32Z GARD:10975 ICD10CM:G43.8 ICD9CM:346.8 ORDO:569 SNOMEDCT_US_2023_03_01:193037008 UMLS_CUI:C0477373 disease_ontology DOID:0060178 Xref MGI. familial hemiplegic migraine 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 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. lschriml 2011-11-08T03:21:30Z ICD10CM:Q87.5 MIM:309500 ORDO:3242 Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8 disease_ontology DOID:0060179 Renpenning syndrome 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 An inflammatory bowel disease that involves inflammation located_in colon. emitraka 2014-09-12T14:31:45Z EFO:0003872 ICD10CM:K52.9 MESH:D003092 NCI:C26723 SNOMEDCT_US_2023_03_01:64226004 UMLS_CUI:C0009319 disease_ontology DOID:0060180 colitis An inflammatory bowel disease that involves inflammation located_in colon. url:http://en.wikipedia.org/wiki/Colitis A colitis caused_by inadequate blood supply to the colon. emitraka 2014-09-12T14:36:51Z ICD10CM:K55.9 MESH:D017091 SNOMEDCT_US_2023_03_01:30588004 UMLS_CUI:C0162529 disease_ontology DOID:0060181 ischemic colitis 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 A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. emitraka 2014-09-12T14:49:18Z ICD10CM:K52.83 MESH:D046728 NCI:C38504 ORDO:58220 SNOMEDCT_US_2023_03_01:235753003 UMLS_CUI:C0400821 disease_ontology DOID:0060182 microscopic colitis 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 A colitis characterized by a distinctive thickening of the subepithelial collagen table. emitraka 2014-09-12T14:56:28Z GARD:6135 ICD10CM:K52.831 MEDDRA:10048928 MESH:D046729 NCI:C27021 SNOMEDCT_US_2023_03_01:19311003 UMLS_CUI:C0238067 disease_ontology DOID:0060183 Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy. collagenous colitis 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 A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). emitraka 2014-09-12T14:58:50Z GARD:6939 ICD10CM:K52.832 MEDDRA:10025268 MESH:D046730 NCI:C27147 ORDO:65279 SNOMEDCT_US_2023_03_01:31437008 UMLS_CUI:C0400822 disease_ontology DOID:0060184 The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally. lymphocytic colitis 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 A colitis characterized by an overgrowth of Clostridium difficile bacteria. emitraka 2014-09-12T15:01:17Z ICD10CM:A04.7 MEDDRA:10009657 MESH:D004761 NCI:C128347 SNOMEDCT_US_2023_03_01:266525002 SNOMEDCT_US_2023_03_01:397683000 SNOMEDCT_US_2023_03_01:51180003 UMLS_CUI:C0014358 UMLS_CUI:C0085819 UMLS_CUI:C1257843 UMLS_CUI:C1257844 UMLS_CUI:C1257845 Pseudomembranous colitis disease_ontology DOID:0060185 Clostridium difficile colitis 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 A colitis caused_by introduction of various chemicals. emitraka 2014-09-12T15:08:50Z ICD10CM:K52 ICD9CM:558 UMLS_CUI:C0029512 disease_ontology DOID:0060186 chemical colitis 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 A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. emitraka 2014-09-12T15:14:29Z ICD10CM:K52 ICD9CM:558 UMLS_CUI:C0029512 disease_ontology DOID:0060187 diversion colitis 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 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. emitraka 2014-09-15T10:51:02Z ICD10CM:K50.0 disease_ontology DOID:0060188 jejunoileitis 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 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. emitraka 2014-09-15T11:40:07Z ICD10CM:K52.9 MEDDRA:10021312 MESH:D007079 NCI:C84782 SNOMEDCT_US_2023_03_01:52457000 UMLS_CUI:C0020877 Crohn's ileitis disease_ontology DOID:0060189 ileitis 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 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. emitraka 2014-09-15T12:22:19Z ICD10CM:K52.9 MEDDRA:10062647 disease_ontology DOID:0060190 OWL classification. ileocolitis 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 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. emitraka 2014-09-15T12:35:28Z ICD10CM:K50.0 upper GI Crohn's disease disease_ontology DOID:0060191 gastroduodenal Crohn's disease 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 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. emitraka 2014-09-15T12:50:24Z ICD10CM:K50.1 ICD9CM:555.1 MESH:D003424 NCI:C37262 SNOMEDCT_US_2023_03_01:7620006 UMLS_CUI:C0156147 disease_ontology DOID:0060192 OWL classification. Crohn's colitis 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 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS. emitraka 2014-09-16T13:04:32Z ICD10CM:G12.2 MIM:105400 ALS1 amyotrophic lateral sclerosis 1 disease_ontology DOID:0060193 amyotrophic lateral sclerosis type 1 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 ALS1 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2. emitraka 2014-09-16T13:12:14Z GARD:9470 ICD10CM:G12.2 MIM:205100 ALS2 amyotrophic lateral sclerosis 2 amyotrophic lateral sclerosis 2, juvenile disease_ontology DOID:0060194 amyotrophic lateral sclerosis type 2 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 ALS2 An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18. emitraka 2014-09-16T13:18:38Z GARD:10501 MIM:606640 ALS3 amyotrophic lateral sclerosis 3 disease_ontology DOID:0060195 amyotrophic lateral sclerosis type 3 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 ALS3 MIM:606640 An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9. emitraka 2014-09-16T13:49:59Z GARD:10502 ICD10CM:G12.2 MIM:602433 ORDO:357043 ALS4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs disease_ontology DOID:0060196 amyotrophic lateral sclerosis type 4 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 ALS4 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. emitraka 2014-09-16T14:17:01Z GARD:10503 MIM:602099 ALS5 amyotrophic lateral sclerosis 5 disease_ontology DOID:0060197 amyotrophic lateral sclerosis type 5 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 ALS5 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16. emitraka 2014-09-16T14:21:07Z GARD:9874 MIM:608030 ALS6 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia autosomal recessive amyotrophic lateral sclerosis 6 disease_ontology DOID:0060198 amyotrophic lateral sclerosis type 6 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 ALS6 An amyotrophic lateral sclerosis that has_material_basis_in mutation in SOD1 gene on chromosome 20. emitraka 2014-09-16T14:28:41Z GARD:10500 MIM:608031 ALS7 amyotrophic lateral sclerosis 7 disease_ontology DOID:0060199 amyotrophic lateral sclerosis type 7 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 ALS7 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14. emitraka 2014-09-16T14:33:09Z GARD:10498 MIM:611895 ALS9 amyotrophic lateral sclerosis 9 disease_ontology DOID:0060200 amyotrophic lateral sclerosis type 9 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 ALS9 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1. emitraka 2014-09-16T14:36:54Z GARD:10497 MIM:612069 ALS10 TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions amyotrophic lateral sclerosis 10 amyotrophic lateral sclerosis 10, with or without frontotemporal dementia disease_ontology DOID:0060201 amyotrophic lateral sclerosis type 10 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 ALS10 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6. emitraka 2014-09-16T14:49:07Z GARD:10496 MIM:612577 ALS11 amyotrophic lateral sclerosis 11 disease_ontology DOID:0060202 amyotrophic lateral sclerosis type 11 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 ALS11 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10. emitraka 2014-09-16T14:53:12Z MIM:613435 ALS12 amyotrophic lateral sclerosis 12 disease_ontology DOID:0060203 amyotrophic lateral sclerosis type 12 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 ALS12 An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility. emitraka 2014-09-16T14:56:08Z ALS13 amyotrophic lateral sclerosis 13 disease_ontology DOID:0060204 An association between 29 or more CAG repeats and the development of ALS13 exists. amyotrophic lateral sclerosis type 13 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 ALS13 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13. emitraka 2014-09-16T15:02:22Z MIM:613954 ALS14 amyotrophic lateral sclerosis 14 amyotrophic lateral sclerosis type 14 amyotrophic lateral sclerosis, with or without frontotemporal dementia disease_ontology DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 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 ALS14 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X. emitraka 2014-09-16T15:12:48Z MIM:300857 ALS15 amyotrophic lateral sclerosis 15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia disease_ontology DOID:0060206 Described in one family only. amyotrophic lateral sclerosis type 15 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 ALS15 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9. emitraka 2014-09-16T15:17:01Z MIM:614373 ALS16 amyotrophic lateral sclerosis 16 amyotrophic lateral sclerosis 16, juvenile disease_ontology DOID:0060207 amyotrophic lateral sclerosis type 16 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 ALS16 amyotrophic lateral sclerosis 16, juvenile MIM:614373 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHMP2B gene on chromosome 3. emitraka 2014-09-16T15:20:50Z disease_ontology DOID:0060208 obsolete amyotrophic lateral sclerosis type 17 true 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 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17. emitraka 2014-09-16T15:24:08Z MIM:614808 ALS18 amyotrophic lateral sclerosis 18 disease_ontology DOID:0060209 amyotrophic lateral sclerosis type 18 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 ALS18 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2. emitraka 2014-09-16T15:30:22Z MIM:615515 ALS19 amyotrophic lateral sclerosis 19 disease_ontology DOID:0060210 amyotrophic lateral sclerosis type 19 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 ALS19 An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12. emitraka 2014-09-16T15:34:12Z MIM:615426 ALS20 amyotrophic lateral sclerosis 20 disease_ontology DOID:0060211 amyotrophic lateral sclerosis type 20 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 ALS20 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5. emitraka 2014-09-16T16:06:31Z MIM:606070 ALS21 disease_ontology DOID:0060212 amyotrophic lateral sclerosis type 21 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5. url:http://omim.org/entry/606070 ALS21 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. emitraka 2014-09-16T16:36:24Z MIM:105550 ALSFTD FTDALS1 FTDMND amyotrophic lateral sclerosis and/or frontotemporal dementia frontotemporal dementia and/or motor neuron disease disease_ontology DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 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 ALSFTD FTDALS1 FTDMND 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. emitraka 2014-09-16T16:44:08Z MIM:615911 FTDALS2 disease_ontology DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 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 FTDALS2 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. emitraka 2014-09-18T15:02:17Z GARD:5885 ICD10CM:G37.0 ICD9CM:341.1 MESH:D002549 NCI:C84670 SNOMEDCT_US_2023_03_01:44875002 UMLS_CUI:C0007795 Balo disease Balo's concentric sclerosis Tumefactive multiple sclerosis disease_ontology DOID:0060215 Similar to standard multiple sclerosis. Balo concentric sclerosis 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/ An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. emitraka 2014-09-22T16:29:20Z GARD:1421 ICD10CM:H16.32 MESH:D055952 ORDO:1467 SNOMEDCT_US_2023_03_01:231906002 UMLS_CUI:C0271270 Cogan's syndrome diffuse interstitual keratitis disease_ontology DOID:0060216 OWL also bilateral audiovestibular deficits. Cogan syndrome 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 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. emitraka 2014-09-23T12:31:25Z GARD:6125 MEDDRA:10059200 NCI:C84644 ORDO:98980 SNOMEDCT_US_2023_03_01:129624009 UMLS_CUI:C1168173 disease_ontology DOID:0060217 Cogan-Reese syndrome 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 A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. emitraka 2014-09-24T16:30:36Z GARD:12430 ICD10CM:M34.1 MESH:D017675 NCI:C70646 SNOMEDCT_US_2023_03_01:31848007 SNOMEDCT_US_2023_03_01:62382002 UMLS_CUI:C0206138 UMLS_CUI:C1527226 disease_ontology DOID:0060218 CREST syndrome A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. url:http://en.wikipedia.org/wiki/CREST_syndrome 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. emitraka 2014-11-05T09:11:16Z lymph node adenoid cystic cancer disease_ontology DOID:0060219 lymph node adenoid cystic carcinoma 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/ An urticaria induced by external physical influences. emitraka 2014-11-21T15:51:38Z disease_ontology DOID:0060220 WD correction. physical urticaria An urticaria induced by external physical influences. url:http://en.wikipedia.org/wiki/Physical_urticaria url:http://www.dermnetnz.org/reactions/urticaria.html A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. emitraka 2014-11-26T11:16:24Z GARD:6958 ICD10CM:Q78.4 MIM:614569 ORDO:163634 disease_ontology DOID:0060221 WD former synonym. Maffucci syndrome 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 A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. emitraka 2014-11-26T11:32:20Z GARD:12561 ICD10CM:E76.0 MIM:607016 ORDO:93474 mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V disease_ontology DOID:0060222 WD former synonym. Scheie syndrome A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. url:http://en.wikipedia.org/wiki/Scheie_syndrome 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. emitraka 2014-11-26T11:44:01Z ICD10CM:R48.8 MESH:D000381 disease_ontology DOID:0060223 agraphia MESH:D000381 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 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. emitraka 2015-01-16T14:55:21Z ICD9CM:427.31 MESH:D001281 NCI:C50466 SNOMEDCT_US_2023_03_01:266306001 UMLS_CUI:C0004238 A-fib AFib disease_ontology DOID:0060224 atrial fibrillation MESH:D001281 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 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. emitraka 2015-01-16T15:08:40Z GARD:1118 ICD10CM:Q87.8 MIM:PS257920 ORDO:293843 craniofacial-ulnar-renal syndrome oculopalatoskeletal syndrome disease_ontology DOID:0060225 Xref MGI. 3MC syndrome 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 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. emitraka 2015-01-16T15:39:56Z MESH:C538186 MIM:201180 MIM:239710 ORDO:1784 SNOMEDCT_US_2023_03_01:720408003 UMLS_CUI:C1860118 AFFN dysostosis Richieri-Costa-Colletto syndrome disease_ontology DOID:0060226 Xref MGI. acrofrontofacionasal dysostosis 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 A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. emitraka 2015-01-16T15:48:40Z GARD:5739 MIM:100300 MIM:614219 MIM:614814 MIM:615297 MIM:616028 MIM:PS100300 ORDO:974 SNOMEDCT_US_2023_03_01:34748004 UMLS_CUI:C0265268 Adams Oliver syndrome disease_ontology DOID:0060227 Xref MGI. Adams-Oliver syndrome 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 An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. emitraka 2015-01-16T16:24:39Z MIM:PS105800 ORDO:231160 familial aneurysmal subarachnoid hemorrhage familial berry aneurysm familial intracranial saccular aneurysm saccular cerebral aneurysm disease_ontology DOID:0060228 Xref MGI. intracranial berry aneurysm 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 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. emitraka 2015-01-16T16:52:25Z GARD:5279 MIM:PS243310 ORDO:2995 disease_ontology DOID:0060229 Xref MGI. Baraitser-Winter syndrome 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 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. emitraka 2015-01-22T13:09:08Z MESH:C536275 MIM:114100 MIM:213600 MIM:615007 MIM:615483 SNOMEDCT_US_2023_03_01:110997000 UMLS_CUI:C0393590 Fahr disease disease_ontology DOID:0060230 NT MGI. basal ganglia calcification 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 A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. emitraka 2015-01-23T15:12:40Z ICD10CM:M21.8 MIM:259450 MIM:609220 ORDO:2771 osteogenesis imperfecta with congenital joint contractures disease_ontology DOID:0060231 NT MGI. Bruck syndrome 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 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. emitraka 2015-01-23T15:24:02Z GARD:10148 ICD10CM:Q87.0 MESH:C537104 MIM:120502 MIM:602588 MIM:608389 ORDO:52429 BO syndrome BOR branchiootic dysplasia disease_ontology DOID:0060232 NT MGI. branchiootic syndrome 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 BOR 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. emitraka 2015-01-23T15:37:07Z GARD:9146 ICD10CM:Q87.8 MESH:C535579 MIM:PS115150 ORDO:1340 CFC syndrome cardio-facial-cutaneous syndrome disease_ontology DOID:0060233 NT MGI. cardiofaciocutaneous syndrome 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 An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. emitraka 2015-01-23T16:06:03Z GARD:6003 MESH:C563187 MIM:PS201000 NCI:C98873 ORDO:65759 SNOMEDCT_US_2023_03_01:403767009 UMLS_CUI:C1275078 acrocephalopolysyndactyly type II disease_ontology DOID:0060234 NT MGI. Carpenter syndrome 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 A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. emitraka 2015-01-23T16:35:22Z MESH:C535589 MIM:255110 MIM:600649 MIM:608836 NCI:C114766 ORDO:157 SNOMEDCT_US_2023_03_01:238002005 UMLS_CUI:C0342790 CPT-II infantile carnitine palmitoyltransferase II deficiency late-onset carnitine palmitoyltransferase II deficiency lethal neonatal carnitine palmitoyltransferase II deficiency disease_ontology DOID:0060235 NT MGI. carnitine palmitoyltransferase II deficiency 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 CPT-II 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. emitraka 2015-01-27T14:10:42Z ICD10CM:E79.8 MIM:PS278300 ORDO:3467 SNOMEDCT_US_2023_03_01:190919008 UMLS_CUI:C0220988 classic xanthinuria hereditary xanthinuria xanthine dehydrogenase deficiency xanthine oxidase deficiency disease_ontology DOID:0060236 NT MGI. xanthinuria 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 A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. emitraka 2015-01-27T14:32:30Z MESH:C536681 MIM:PS600118 ORDO:2510 UMLS_CUI:C1838625 WARBM Warburg-Sjo-Fledelius syndrome micro syndrome disease_ontology DOID:0060237 NT MGI. Warburg micro syndrome 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 WARBM 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. emitraka 2015-01-27T15:42:05Z GARD:5456 MESH:C536530 MIM:PS601390 ORDO:314679 SNOMEDCT_US_2023_03_01:763353000 UMLS_CUI:C1832390 cerebro-facio-articular syndrome disease_ontology DOID:0060238 NT MGI. Van Maldergem syndrome 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 A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. emitraka 2015-01-27T15:51:56Z GARD:8414 ICD10CM:Q38.0 MESH:C536528 MESH:C563529 MIM:119300 MIM:606713 NCI:C74986 ORDO:888 SNOMEDCT_US_2023_03_01:79261008 UMLS_CUI:C0175697 UMLS_CUI:C1834339 disease_ontology lip-pit syndrome DOID:0060239 NT MGI. Van der Woude syndrome 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 A skin disease characterized by photosensitivity and liver spots (solar lentigines). emitraka 2015-01-27T16:00:50Z MESH:C563466 MIM:600630 MIM:614621 MIM:614640 MIM:PS600630 ORDO:178338 disease_ontology DOID:0060240 NT MGI. UV-sensitive syndrome 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 A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. emitraka 2015-01-27T16:10:58Z GARD:5667 MESH:C535314 MIM:273750 MIM:612921 MIM:614205 ORDO:2616 SNOMEDCT_US_2023_03_01:702342007 UMLS_CUI:C1848862 UMLS_CUI:C3280146 Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three M syndrome disease_ontology DOID:0060241 NT MGI. 3-M syndrome 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 A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene. emitraka 2015-01-27T16:57:56Z GARD:5087 MESH:C538153 MIM:186000 MIM:608180 MIM:610234 NCI:C75003 ORDO:295195 SNOMEDCT_US_2023_03_01:715724002 UMLS_CUI:C2699746 syndactyly type 2 disease_ontology DOID:0060242 NT MGI. synpolydactyly 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 An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. emitraka 2015-01-28T16:04:54Z ICD10CM:F80.81 MESH:D013342 MIM:184450 MIM:609261 MIM:614655 MIM:614668 NCI:C35043 SNOMEDCT_US_2023_03_01:191987007 SNOMEDCT_US_2023_03_01:229631007 SNOMEDCT_US_2023_03_01:29916003 UMLS_CUI:C0038131 UMLS_CUI:C0038506 UMLS_CUI:C0454542 UMLS_CUI:C0751527 UMLS_CUI:C0751528 UMLS_CUI:C0751529 UMLS_CUI:C3489627 familial persistent stuttering stammering disease_ontology DOID:0060243 NT MGI. stuttering 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 A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. emitraka 2015-01-28T16:29:51Z MIM:606711 MIM:606712 MIM:607134 MIM:612514 MIM:615432 disease_ontology DOID:0060244 NT MGI. specific language impairment 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 A hereditary spastic paraplegia associated with dementia. emitraka 2015-01-28T16:42:37Z ICD10CM:G11.4 MESH:C565409 MIM:248900 ORDO:101001 SPG21 autosomal recessive spastic paraplegia 21 autosomal recessive spastic paraplegia type 21 hereditary spastic paraplegia 21 disease_ontology DOID:0060245 NT MGI. Mast syndrome A hereditary spastic paraplegia associated with dementia. url:http://ghr.nlm.nih.gov/gene/SPG21 url:https://www.ncbi.nlm.nih.gov/pubmed/6024251 SPG21 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. emitraka 2015-01-28T16:49:53Z GARD:6986 MESH:C536029 MIM:303350 NCI:C129930 ORDO:2466 SNOMEDCT_US_2023_03_01:716996008 UMLS_CUI:C0795953 CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1 disease_ontology DOID:0060246 NT MGI. MASA syndrome 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 SPG1 A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest. emitraka 2015-01-29T15:06:25Z GARD:10620 MESH:C564589 MIM:PS607326 ORDO:178355 SNOMEDCT_US_2023_03_01:715862006 UMLS_CUI:C1846431 disease_ontology DOID:0060247 NT MGI. Smith-McCort dysplasia 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 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. emitraka 2015-01-29T15:15:46Z GARD:7649 MESH:C537340 MIM:312870 NCI:C118787 ORDO:373 UMLS_CUI:C0796154 DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome disease_ontology DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 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/ A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. emitraka 2015-01-29T15:44:16Z ICD10CM:M41.9 MESH:D012600 NCI:C78603 SNOMEDCT_US_2023_03_01:36773001 UMLS_CUI:C0036439 disease_ontology DOID:0060249 NT MGI add. scoliosis MESH:D012600 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 A scoliosis with no known cause. emitraka 2015-01-29T15:52:18Z GARD:552 disease_ontology DOID:0060250 NT MGI. idiopathic scoliosis A scoliosis with no known cause. url:http://en.wikipedia.org/wiki/Scoliosis 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. emitraka 2015-01-29T16:02:45Z GARD:4771 MESH:C537525 MIM:PS269500 NCI:C131133 ORDO:3152 SNOMEDCT_US_2023_03_01:17568006 UMLS_CUI:C0265301 disease_ontology DOID:0060251 sclerosteosis 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 A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. emitraka 2015-01-29T16:16:57Z MESH:C565209 MIM:181700 ORDO:91490 UMLS_CUI:C1853235 isolated congenital sclerocornea disease_ontology DOID:0060252 sclerocornea 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 A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. emitraka 2015-01-29T16:35:26Z MESH:C536624 MIM:300695 disease_ontology DOID:0060253 NT MGI. scapuloperoneal myopathy 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 A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. emitraka 2015-01-29T16:42:52Z GARD:312 ICD10CM:Q87.19 MESH:C562492 MIM:PS268310 NCI:C85048 ORDO:97360 SNOMEDCT_US_2023_03_01:76520005 UMLS_CUI:C0265205 Robinow dwarfism acral dysostosis with facial and genital abnormalities fetal face syndrome disease_ontology DOID:0060254 NT MGI. Robinow syndrome 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 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. emitraka 2015-01-29T16:51:43Z DOID:0110302 GARD:9164 MIM:606072 ORDO:265 ORDO:97238 SNOMEDCT_US_2023_03_01:709281006 UMLS_CUI:C1853698 autosomal dominant limb-girdle muscular dystrophy type 1C disease_ontology DOID:0060255 NT MGI. rippling muscle disease 2 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 A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. emitraka 2015-01-30T11:04:57Z GARD:9775 MESH:C562924 MIM:179850 MIM:615327 MIM:615674 MIM:615696 ORDO:79145 SNOMEDCT_US_2023_03_01:239133004 UMLS_CUI:C0406811 UMLS_CUI:C3714534 dark dot disease reticular pigment anomaly of flexures disease_ontology DOID:0060256 NT MGI. Dowling-Degos disease 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 A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. emitraka 2015-01-30T16:08:47Z MESH:C535729 MIM:127400 NCI:C118435 ORDO:41 SNOMEDCT_US_2023_03_01:239085000 UMLS_CUI:C0406775 reticulate acropigmentation of Dohi disease_ontology DOID:0060257 NT MGI. dyschromatosis symmetrica hereditaria 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 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. emitraka 2015-01-30T16:19:57Z MIM:615537 ORDO:178307 SNOMEDCT_US_2023_03_01:239133004 UMLS_CUI:C0406811 RAPK disease_ontology DOID:0060258 NT MGI. reticulate acropigmentation of Kitamura 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 RAPK A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. emitraka 2015-01-30T16:33:37Z MESH:C567142 MIM:208540 MIM:615415 ORDO:294415 Ivemark's syndrome disease_ontology DOID:0060259 renal-hepatic-pancreatic dysplasia 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 An eye disease characterized by the drooping or falling of the upper or lower eyelid. emitraka 2015-01-30T16:46:53Z ICD10CM:H02.4 ICD9CM:374.3 MESH:D001763 NCI:C27298 SNOMEDCT_US_2023_03_01:204197004 UMLS_CUI:C0005745 blepharoptosis drooping eyelid disease_ontology DOID:0060260 NT MGI add. ptosis An eye disease characterized by the drooping or falling of the upper or lower eyelid. url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 A ptosis characterized by eyelid drop present at birth. emitraka 2015-01-30T16:53:38Z ICD10CM:Q10.0 ICD9CM:743.61 MIM:178300 MIM:300245 NCI:C27049 SNOMEDCT_US_2023_03_01:204197004 UMLS_CUI:C0266573 disease_ontology DOID:0060261 NT MGI. congenital ptosis 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 A gastrointestinal system disease that is located_in the gallbladder. emitraka 2015-02-02T15:48:08Z DOID:0000000 ICD10CM:K82.9 ICD9CM:575.9 MESH:D005705 MIM:609918 MIM:609919 MIM:611465 NCI:C34631 SNOMEDCT_US_2023_03_01:155807008 UMLS_CUI:C0016977 disease_ontology DOID:0060262 Xref MGI. gallbladder disease A gastrointestinal system disease that is located_in the gallbladder. url:http://en.wikipedia.org/wiki/Gallbladder_disease A brain disease that is characterized by encephalomalacia and cystic brain lesions. emitraka 2015-02-04T14:12:00Z GARD:7430 ICD10CM:Q04.6 MESH:D065708 ORDO:2940 SNOMEDCT_US_2023_03_01:1162864000 SNOMEDCT_US_2023_03_01:38353004 SNOMEDCT_US_2023_03_01:698837003 UMLS_CUI:C0302892 UMLS_CUI:C1867983 UMLS_CUI:C3698507 disease_ontology DOID:0060263 NT MGI. porencephaly 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 A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum. emitraka 2015-02-04T14:23:25Z GARD:10977 MESH:C580383 MIM:PS607596 SNOMEDCT_US_2023_03_01:45163000 UMLS_CUI:C0266468 PCH disease_ontology DOID:0060264 NT MGI add. pontocerebellar hypoplasia A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum. url:https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia#definition PCH 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. emitraka 2015-02-04T14:28:28Z MIM:607596 ORDO:2254 disease_ontology DOID:0060265 NT MGI. pontocerebellar hypoplasia type 1A 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/ 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. emitraka 2015-02-04T14:28:28Z MIM:614678 ORDO:2254 disease_ontology DOID:0060266 NT MGI. pontocerebellar hypoplasia type 1B 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/ 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. emitraka 2015-02-04T14:28:28Z GARD:10705 GARD:3631 MESH:C564738 MIM:277470 ORDO:2524 UMLS_CUI:C1848526 disease_ontology DOID:0060267 NT MGI. pontocerebellar hypoplasia type 2A 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 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. emitraka 2015-02-04T14:28:28Z MESH:C567325 MIM:612389 ORDO:2524 UMLS_CUI:C2676466 disease_ontology DOID:0060268 NT MGI. pontocerebellar hypoplasia type 2B 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 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. emitraka 2015-02-04T14:28:28Z MESH:C567324 MIM:612390 ORDO:2524 UMLS_CUI:C2676465 disease_ontology DOID:0060269 NT MGI. pontocerebellar hypoplasia type 2C 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 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. emitraka 2015-02-04T14:28:28Z ICD10CM:Q04.3 MIM:613811 ORDO:2524 disease_ontology DOID:0060270 NT MGI. pontocerebellar hypoplasia type 2D 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 A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13. emitraka 2015-02-04T14:28:28Z MIM:615851 disease_ontology DOID:0060271 NT MGI. pontocerebellar hypoplasia type 2E A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/24577744/ url:https://www.omim.org/entry/615851 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. emitraka 2015-02-04T14:28:28Z GARD:10708 MESH:C548072 MIM:608027 ORDO:97249 SNOMEDCT_US_2023_03_01:718609003 UMLS_CUI:C1842687 disease_ontology DOID:0060272 NT MGI. pontocerebellar hypoplasia type 3 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/ 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. emitraka 2015-02-04T14:28:28Z GARD:343 MESH:C536716 MIM:225753 ORDO:166063 SNOMEDCT_US_2023_03_01:718608006 UMLS_CUI:C1856974 disease_ontology DOID:0060273 NT MGI. pontocerebellar hypoplasia type 4 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/ 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. emitraka 2015-02-04T14:28:28Z GARD:10709 MESH:C537745 MIM:610204 ORDO:166068 SNOMEDCT_US_2023_03_01:718607001 UMLS_CUI:C1857762 disease_ontology DOID:0060274 NT MGI. pontocerebellar hypoplasia type 5 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/ 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. emitraka 2015-02-04T14:28:28Z GARD:10710 MESH:C548074 MIM:611523 ORDO:166073 SNOMEDCT_US_2023_03_01:718606005 UMLS_CUI:C1969084 disease_ontology DOID:0060275 NT MGI. pontocerebellar hypoplasia type 6 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 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. emitraka 2015-02-04T14:28:28Z ICD10CM:Q04.3 MIM:614969 ORDO:284339 disease_ontology DOID:0060276 NT MGI. pontocerebellar hypoplasia type 7 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/ 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. emitraka 2015-02-04T14:28:28Z ICD10CM:Q04.3 MIM:614961 ORDO:324569 disease_ontology DOID:0060277 NT MGI. pontocerebellar hypoplasia type 8 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/ 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. emitraka 2015-02-04T14:28:28Z ICD10CM:Q04.3 MIM:615809 ORDO:369920 disease_ontology DOID:0060278 NT MGI. pontocerebellar hypoplasia type 9 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/ 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. emitraka 2015-02-04T14:28:28Z MIM:615803 ORDO:411493 disease_ontology DOID:0060279 NT MGI. pontocerebellar hypoplasia type 10 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/ An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. emitraka 2015-02-04T16:01:02Z GARD:10906 MIM:PS610489 ORDO:647772 UMLS_CUI:C4304832 UMLS_CUI:C5816750 PPNAD disease_ontology DOID:0060280 NT MGI. primary pigmented nodular adrenocortical disease GARD:10906 MIM:PS610489 ORDO:647772 UMLS_CUI:C4304832 UMLS_CUI:C5816750 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 PPNAD An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. emitraka 2015-02-04T16:15:55Z GARD:5648 ICD10CM:G40.8 MIM:132100 MIM:609572 MIM:609573 ORDO:166409 photogenic epilepsy photoparoxysmal response disease_ontology DOID:0060281 NT MGI. photosensitive epilepsy 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 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. emitraka 2015-02-04T16:21:06Z MESH:D054514 MIM:221900 MIM:611308 NCI:C161554 ORDO:91495 SNOMEDCT_US_2023_03_01:69927002 UMLS_CUI:C0266568 disease_ontology DOID:0060282 NT MGI. persistent hyperplastic primary vitreous 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 A skin disease that is characterized by the painless, continuous peeling of the top layer of skin. emitraka 2015-02-04T16:28:52Z GARD:7347 MESH:C564818 MIM:PS270300 ORDO:817 SNOMEDCT_US_2023_03_01:724838009 UMLS_CUI:C1849193 deciduous skin familial continuous skin peeling syndrome keratosis exfoliativa congenita peeling skin disease disease_ontology DOID:0060283 peeling skin syndrome ICD10CM:Q80.8 GARD:7347 MIM:PS270300 ORDO:817 SNOMEDCT_US_2023_03_01:724838009 UMLS_CUI:C1849193 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/ 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. emitraka 2015-02-04T16:30:50Z GARD:7337 ICD10CM:D59.5 ICD10CM:D59.6 MESH:D006457 MIM:300818 MIM:615399 NCI:C61233 ORDO:447 SNOMEDCT_US_2023_03_01:1468004 SNOMEDCT_US_2023_03_01:154805009 SNOMEDCT_US_2023_03_01:191226006 UMLS_CUI:C0019050 UMLS_CUI:C0024790 UMLS_CUI:C0086774 disease_ontology DOID:0060284 NT MGI. paroxysmal nocturnal hemoglobinuria 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 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. emitraka 2015-02-04T16:36:15Z MESH:C566826 MIM:168500 MIM:609566 MIM:609597 ORDO:60015 SNOMEDCT_US_2023_03_01:718099006 UMLS_CUI:C1868598 Caitlin marks enlarged parietal foramina hereditary cranium bifidum disease_ontology DOID:0060285 NT MGI. parietal foramina 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 A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. emitraka 2015-02-04T16:56:52Z GARD:12893 MIM:PS609060 disease_ontology DOID:0060286 NT MGI. combined oxidative phosphorylation deficiency 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 A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D. emitraka 2015-02-04T17:04:28Z ICD10CM:Q13.4 MIM:121400 MIM:217300 ORDO:53691 flat cornea disease_ontology DOID:0060287 NT MGI. cornea plana 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 An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism. emitraka 2015-02-05T09:58:47Z MIM:PS258315 ORDO:2733 SNOMEDCT_US_2023_03_01:725164008 UMLS_CUI:C4510897 disease_ontology DOID:0060288 NT MGI. omodysplasia An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism. url:https://pubmed.ncbi.nlm.nih.gov/12210345/ A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. emitraka 2015-02-05T10:03:42Z GARD:3348 MESH:C536232 MIM:249620 MIM:300895 ORDO:2728 SNOMEDCT_US_2023_03_01:412787009 UMLS_CUI:C0796094 Ohdo blepharophimosis syndrome disease_ontology DOID:0060289 NT MGI. Ohdo syndrome A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. url:https://pubmed.ncbi.nlm.nih.gov/16700052/ 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. emitraka 2015-02-05T10:07:12Z MESH:C536717 MIM:603736 ORDO:3047 SNOMEDCT_US_2023_03_01:699298009 UMLS_CUI:C1863557 Say-Barber-Biesecker-Young-Simpson syndrome blepharophimosis-intellectual disability syndrome, SBBYS type disease_ontology SBBYSS DOID:0060290 NT MGI. Ohdo syndrome, SBBYS variant 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 SBBYSS A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. emitraka 2015-02-05T10:12:23Z GARD:7239 MESH:C563160 MIM:164200 MIM:257850 ORDO:2710 SNOMEDCT_US_2023_03_01:31291009 UMLS_CUI:C0812437 ODD syndrome disease_ontology DOID:0060291 NT MGI. oculodentodigital dysplasia 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 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. emitraka 2015-02-05T16:35:34Z ICD10CM:Q77.3 MESH:C580533 MIM:302950 ORDO:35173 chondrodystrophia calcificans congenita disease_ontology DOID:0060292 NT MGI. X-linked chondrodysplasia punctata 1 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 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. emitraka 2015-02-05T16:49:46Z ICD10CM:Q77.3 MIM:118650 MIM:118651 MIM:602497 ORDO:79344 disease_ontology DOID:0060293 NT MGI. autosomal dominant chondrodysplasia punctata 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 A syndrome that is characterized by profuse sweating induced by cold ambient temperature. emitraka 2015-02-06T16:10:07Z MESH:C536214 MIM:PS272430 ORDO:157820 SNOMEDCT_US_2023_03_01:725097006 UMLS_CUI:C1832409 Crisponi syndrome Sohar-Crisponi syndrome disease_ontology DOID:0060294 NT MGI. cold-induced sweating syndrome A syndrome that is characterized by profuse sweating induced by cold ambient temperature. url:http://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene. emitraka 2015-02-09T15:32:25Z GARD:1452 ICD10CM:D84.1 MIM:217000 ORDO:169147 disease_ontology DOID:0060295 NT MGI. complement component 2 deficiency 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 A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene. emitraka 2015-02-09T16:42:50Z MESH:C536210 MIM:214700 ORDO:53689 SNOMEDCT_US_2023_03_01:24412005 UMLS_CUI:C0267662 congenital chloride diarrhea finnish type congenital chloride diarrhoea finnish type congenital chloridorrhea congenital secretory chloride diarrhoea 1 disease_ontology DOID:0060296 NT MGI. congenital secretory chloride diarrhea 1 A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene. url:https://pubmed.ncbi.nlm.nih.gov/19861545/ A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency. emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 MESH:C565167 MIM:614380 ORDO:169147 disease_ontology DOID:0060297 NT MGI. complement component 4a deficiency A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency. url:https://www.omim.org/entry/614380 A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency. emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 MIM:614379 ORDO:169147 disease_ontology DOID:0060298 NT MGI. complement component 4b deficiency A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency. url:https://www.omim.org/entry/614379 A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene. emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 MESH:C567307 MIM:612446 ORDO:169150 disease_ontology DOID:0060299 NT MGI. complement component 6 deficiency 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 A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene. emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 MESH:C566443 MIM:610102 ORDO:1695150 disease_ontology DOID:0060300 NT MGI. complement component 7 deficiency 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 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. emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 MIM:613790 ORDO:169150 disease_ontology DOID:0060301 NT MGI. type I complement component 8 deficiency 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 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. emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 MIM:613789 ORDO:169150 disease_ontology DOID:0060302 NT MGI. type II complement component 8 deficiency 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 A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 MIM:613825 ORDO:169150 disease_ontology DOID:0060303 NT MGI. complement component 9 deficiency 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 A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. emitraka 2015-02-09T16:53:42Z GARD:1996 MESH:C535730 MIM:127500 MIM:612715 MIM:615402 NCI:C173131 ORDO:241 UMLS_CUI:C2930995 disease_ontology DOID:0060304 NT MGI. dyschromatosis universalis hereditaria 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 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. emitraka 2015-02-10T12:29:54Z MIM:249300 MIM:309300 ORDO:91489 SNOMEDCT_US_2023_03_01:204118005 UMLS_CUI:C0344530 anterior megalophthalmos congenital anterior megalophthalmia disease_ontology DOID:0060305 NT MGI. megalocornea 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 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. emitraka 2015-02-10T12:40:39Z GARD:2033 MESH:C538012 MIM:PS224690 ORDO:2554 SNOMEDCT_US_2023_03_01:703508009 UMLS_CUI:C1868684 ear-patella-short stature syndrome disease_ontology DOID:0060306 NT MGI. Meier-Gorlin syndrome 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 A intellectual disability characterized by an autosomal dominant inheritance pattern. emitraka 2015-02-10T16:47:55Z GARD:12107 MIM:PS156200 ORDO:178469 autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation disease_ontology DOID:0060307 NT MGI. autosomal dominant intellectual developmental disorder A intellectual disability characterized by an autosomal dominant inheritance pattern. url:https://www.ncbi.nlm.nih.gov/pubmed/21124998 A intellectual disability characterized by an autosomal recessive inheritance pattern. emitraka 2015-02-11T10:32:11Z MIM:PS249500 ORDO:88616 autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation disease_ontology DOID:0060308 NT MGI. autosomal recessive intellectual developmental disorder A intellectual disability characterized by an autosomal recessive inheritance pattern. url:https://www.ncbi.nlm.nih.gov/pubmed/21124998 A syndromic intellectual disability characterized by an X-linked inheritance pattern. emitraka 2015-02-11T16:14:46Z MIM:PS309510 syndromic X-linked mental retardation disease_ontology DOID:0060309 NT MGI. syndromic X-linked intellectual disability A syndromic intellectual disability characterized by an X-linked inheritance pattern. url:http://en.wikipedia.org/wiki/X-linked_intellectual_disability An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. emitraka 2015-02-16T13:26:27Z ICD10CM:K12.2 MEDDRA:10051962 acute uvulitis disease_ontology DOID:0060310 PRISM. uvulitis 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 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. emitraka 2015-02-16T13:35:56Z ICD10CM:J35.2 ICD9CM:474.12 MEDDRA:10001229 SNOMEDCT_US_2023_03_01:111591002 UMLS_CUI:C0149825 adenoidal hypertrophy enlarged adenoids disease_ontology DOID:0060311 PRISM. adenoid hypertrophy 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 A cheilitis characterized by inflammation of one or both of the corners of the mouth. emitraka 2015-02-19T15:57:00Z ICD10CM:K13.0 NCI:C112198 SNOMEDCT_US_2023_03_01:200729007 UMLS_CUI:C0221237 angular cheilosis angular stomatitis cheilosis commissural cheilitis disease_ontology DOID:0060312 PRISM. angular cheilitis A cheilitis characterized by inflammation of one or both of the corners of the mouth. url:http://en.wikipedia.org/wiki/Angular_cheilitis A tracheal disease characterized by flaccidity of the tracheal support cartilage. emitraka 2015-02-20T16:02:03Z ICD10CM:Q32.0 MESH:C557675 ORDO:95430 SNOMEDCT_US_2023_03_01:95467005 UMLS_CUI:C0392109 congenital tracheomalacia disease_ontology DOID:0060313 PRISM. tracheomalacia A tracheal disease characterized by flaccidity of the tracheal support cartilage. url:http://en.wikipedia.org/wiki/Tracheomalacia 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. emitraka 2015-02-23T14:33:26Z PGL disease_ontology DOID:0060314 PRISM. persistent generalized lymphadenopathy 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 PGL 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. emitraka 2015-02-23T15:55:53Z ICD10CM:K13.3 MESH:D017733 NCI:C3722 SNOMEDCT_US_2023_03_01:58918007 UMLS_CUI:C0206186 hairy leukoplakia disease_ontology DOID:0060315 oral hairy leukoplakia 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 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. emitraka 2015-03-09T17:15:07Z ICD10CM:Q87.0 MESH:D009958 MIM:311200 NCI:C75481 ORDO:2750 SNOMEDCT_US_2023_03_01:1779005 SNOMEDCT_US_2023_03_01:403773005 SNOMEDCT_US_2023_03_01:52868006 UMLS_CUI:C0026363 UMLS_CUI:C0029294 UMLS_CUI:C1510460 Papillon-Leage-Psaume syndrome orofaciodigital syndrome 1 orofaciodigital syndrome type I disease_ontology DOID:0060316 orofaciodigital syndrome I 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 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. emitraka 2015-02-23T16:58:49Z ICD10CM:J85.2 ICD9CM:513.0 MESH:D008169 NCI:C99090 SNOMEDCT_US_2023_03_01:155618005 UMLS_CUI:C0024110 disease_ontology DOID:0060317 lung abscess 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 An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. emitraka 2015-02-24T16:50:50Z GARD:538 ICD10CM:C92.4 MESH:D015473 MIM:612376 NCI:C3182 ORDO:520 SNOMEDCT_US_2023_03_01:28950004 UMLS_CUI:C0023487 acute myeloblastic leukaemia type 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia M3 acute myeloid leukemia M3 acute promyelocytic leukaemia disease_ontology DOID:0060318 acute promyelocytic leukemia 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 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. emitraka 2015-02-25T15:12:30Z ICD10CM:I46 ICD9CM:427.5 MESH:D006323 NCI:C50479 NCI:C50483 SNOMEDCT_US_2023_03_01:30298009 UMLS_CUI:C0018790 UMLS_CUI:C0600228 cardiopulmonary arrest circulatory arrest disease_ontology DOID:0060319 cardiac arrest 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 An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. emitraka 2015-02-25T15:54:50Z ICD10CM:K40 ICD9CM:550 MESH:D006552 NCI:C34690 NCI:C34691 NCI:C34692 SNOMEDCT_US_2023_03_01:155738001 SNOMEDCT_US_2023_03_01:196800008 UMLS_CUI:C0019294 UMLS_CUI:C0019295 UMLS_CUI:C0019296 disease_ontology DOID:0060320 inguinal hernia An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. url:http://en.wikipedia.org/wiki/Inguinal_hernia A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. emitraka 2015-02-25T15:58:35Z ICD10CM:Q79.2 ICD9CM:756.72 MESH:D006554 NCI:C98997 SNOMEDCT_US_2023_03_01:49324006 SNOMEDCT_US_2023_03_01:5867007 UMLS_CUI:C0795690 UMLS_CUI:C1306503 disease_ontology DOID:0060321 umbilical hernia 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 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. emitraka 2015-02-25T16:29:09Z ICD10CM:H70.9 ICD9CM:383.9 MESH:D008417 NCI:C128368 SNOMEDCT_US_2023_03_01:155230007 UMLS_CUI:C0024904 disease_ontology DOID:0060322 mastoiditis 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 A breast disease characterized by a collection of pus in the breast. emitraka 2015-02-25T17:21:01Z disease_ontology DOID:0060323 breast abscess A breast disease characterized by a collection of pus in the breast. url:http://en.wikipedia.org/wiki/Mastitis#Breast_abscess A tooth disease characterized by a localized collection of pus associated with a tooth. emitraka 2015-02-25T17:25:03Z ICD10CM:K04.6 disease_ontology DOID:0060324 dental abscess A tooth disease characterized by a localized collection of pus associated with a tooth. url:http://en.wikipedia.org/wiki/Dental_abscess A cervix disease characterized by a benign polyp on the surface of the cervical canal. emitraka 2015-02-25T17:33:54Z ICD10CM:D26.9 ICD9CM:219 SNOMEDCT_US_2023_03_01:189107007 UMLS_CUI:C0153996 disease_ontology DOID:0060325 cervical polyp A cervix disease characterized by a benign polyp on the surface of the cervical canal. url:http://en.wikipedia.org/wiki/Cervical_polyp A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. emitraka 2015-02-25T17:47:25Z ICD10CM:Q05 MESH:D008591 NCI:C101201 NCI:C98874 SNOMEDCT_US_2023_03_01:268308005 SNOMEDCT_US_2023_03_01:7096005 UMLS_CUI:C0025312 UMLS_CUI:C0086664 UMLS_CUI:C0751316 disease_ontology DOID:0060326 myelomeningocele 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 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. emitraka 2015-02-25T17:54:05Z ICD10CM:Q79.2 ICD9CM:756.72 MESH:D006554 MIM:164750 NCI:C98997 SNOMEDCT_US_2023_03_01:49324006 SNOMEDCT_US_2023_03_01:5867007 UMLS_CUI:C0795690 UMLS_CUI:C1306503 exomphalos omphalocoele disease_ontology DOID:0060327 omphalocele 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 An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. elvira 2015-02-25T19:05:13Z ICD10CM:K60.3 MESH:D012003 disease_ontology DOID:0060328 anal fistula 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 A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. elvira 2015-02-25T19:27:50Z GARD:6318 ICD10CM:O00 ICD9CM:633 MESH:D011271 NCI:C34945 SNOMEDCT_US_2023_03_01:156080003 UMLS_CUI:C0032987 eccyesis disease_ontology DOID:0060329 ectopic pregnancy 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 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. emitraka 2015-03-12T13:47:30Z GARD:5690 MESH:C535289 MIM:129400 ORDO:3022 RHS anhidrotic ectodermal dysplasia with cleft lip/palate ectodermal dysplasia syndrome, Rapp-Hodgkin type ectodermal dysplasia, Rapp-Hodgkin type disease_ontology DOID:0060330 Part of AEC spectrum. Research more. Rapp-Hodgkin syndrome 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/ RHS A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. emitraka 2015-03-12T16:04:59Z GARD:12965 MIM:614052 ORDO:1194 SNOMEDCT_US_2023_03_01:718212006 UMLS_CUI:C4273660 MC5DN2 neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency disease_ontology DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 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 MC5DN2 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. emitraka 2015-03-12T16:04:59Z MIM:614053 MC5DN3 disease_ontology DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 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/ MC5DN3 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1. emitraka 2015-03-12T16:04:59Z MC5DN4 disease_ontology DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 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/ MC5DN4 A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. emitraka 2015-03-12T16:59:58Z GARD:1839 ICD10CM:P70.2 MIM:601410 MIM:610374 MIM:610582 ORDO:99886 disease_ontology DOID:0060334 transient neonatal diabetes mellitus 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 A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. emitraka 2015-04-16T10:44:34Z MIM:182170 disease_ontology DOID:0060335 autosomal dominant sideroblastic anemia 4 A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. url:http://en.wikipedia.org/wiki/Sideroblastic_anemia An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. emitraka 2015-04-16T10:50:48Z ICD10CM:E71.111 MESH:C579867 MIM:PS250950 ORDO:289902 disease_ontology DOID:0060336 3-methylglutaconic aciduria 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 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. emitraka 2015-05-11T10:31:37Z MESH:C537943 MIM:609528 ORDO:66631 SNOMEDCT_US_2023_03_01:722385008 UMLS_CUI:C1836033 cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome disease_ontology DOID:0060337 Flybase. CEDNIK syndrome 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 An embryonal rhabdomyosarcoma located in the parameningeal region. emitraka 2015-05-14T14:32:27Z disease_ontology DOID:0060338 parameningeal embryonal rhabdomyosarcoma 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 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). emitraka 2015-05-18T15:37:53Z MIM:616201 CAID syndrome disease_ontology DOID:0060339 chronic atrial and intestinal dysrhythmia 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 A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. emitraka 2015-05-21T10:41:29Z disease_ontology DOID:0060340 ciliopathy 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 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. emitraka 2015-05-26T16:14:08Z ICD10CM:Q18.2 MESH:C562503 MIM:202650 ORDO:990 agnathia-holoprosencephaly-situs inversus syndrome dysgnathia complex agnathia-holoprosencephaly holoprosencephaly-agnathia otocephaly disease_ontology DOID:0060341 agnathia-otocephaly complex 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 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. emitraka 2015-05-26T16:44:46Z GARD:5539 MESH:C566345 MIM:603671 ORDO:1827 disease_ontology DOID:0060342 acromelic frontonasal dysostosis 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 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. emitraka 2015-05-27T17:07:43Z steroid-induced osteoporosis disease_ontology DOID:0060343 glucocorticoid-induced osteoporosis 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 An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. emitraka 2015-05-28T14:45:56Z ICD9CM:701.8 SNOMEDCT_US_2023_03_01:201088002 UMLS_CUI:C0029805 Herxheimer disease primary diffuse atrophy disease_ontology DOID:0060344 acrodermatitis chronica atrophicans 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 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. emitraka 2015-05-28T16:26:12Z MESH:D016917 NCI:C3477 SNOMEDCT_US_2023_03_01:58213005 UMLS_CUI:C0085434 disease_ontology DOID:0060345 bacillary angiomatosis 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 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. emitraka 2015-06-01T17:47:31Z GARD:8432 MESH:C538343 MIM:255995 ORDO:168572 SNOMEDCT_US_2023_03_01:723439002 UMLS_CUI:C1850625 Bailey-Bloch congenital myopathy congenital myopathy 13 disease_ontology DOID:0060346 Native American myopathy 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 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. emitraka 2015-06-04T14:51:42Z MESH:C563159 MIM:102520 MIM:201310 SNOMEDCT_US_2023_03_01:720458005 UMLS_CUI:C3495490 disease_ontology DOID:0060347 acrorenal syndrome 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 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. elvira 2015-06-19T20:05:16Z GARD:411 MESH:C537157 MIM:241410 NCI:C133727 ORDO:2323 SNOMEDCT_US_2023_03_01:1197148005 UMLS_CUI:C1855840 HRD syndrome Sanjad-Sakati syndrome hypoparathyroidism with short stature, mental retardation and seizures disease_ontology DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome 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 A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. elvira 2015-06-24T22:12:55Z MESH:C537711 MIM:152950 ORDO:2526 UMLS_CUI:C1835265 chorioretinal dysplasia-microcephaly-mental retardation syndrome lymphedema and retinal folds with ficrocephaly and microphthalmos lymphedema, microcephaly and chorioretinopathy syndrome microcephaly lymphedema chorioretinal dysplasia microcephaly, lymphedema, chorioretinal dysplasia syndrome disease_ontology DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 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 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. elvira 2015-07-02T16:06:22Z GARD:10666 GARD:546 MESH:C538228 MIM:614723 NCI:C121564 SNOMEDCT_US_2023_03_01:11852004 UMLS_CUI:C0268120 UMLS_CUI:C3665382 2,8-dihydroxyadenine urolithiasis APRT deficiency disease_ontology DOID:0060350 adenine phosphoribosyltransferase deficiency 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 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. elvira 2015-07-14T16:24:56Z MIM:615157 MC3DN2 disease_ontology DOID:0060351 mitochondrial complex III deficiency nuclear type 2 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 MC3DN2 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. elvira 2015-07-14T16:49:09Z DOID:0070075 GARD:8672 MESH:C563043 MIM:610253 NCI:C129976 ORDO:261494 UMLS_CUI:C0795833 9q subtelomeric deletion syndrome 9q-syndrome 9q34 deletion syndrome disease_ontology DOID:0060352 Kleefstra syndrome 1 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 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. elvira 2015-07-15T16:37:59Z MIM:616462 disease_ontology DOID:0060353 acrofacial dysostosis Cincinnati type 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 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. elvira 2015-07-16T16:30:32Z MESH:C566108 MIM:185070 ORDO:3204 SNOMEDCT_US_2023_03_01:711407000 UMLS_CUI:C1861451 thrombocytopathy, asplenia and miosis disease_ontology DOID:0060354 Stormorken syndrome 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 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35. elvira 2015-07-22T11:37:41Z MIM:616208 ALS22 amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia amyotrophic lateral sclerosis 22 disease_ontology DOID:0060355 amyotrophic lateral sclerosis type 22 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35. url:http://omim.org/entry/616208 ALS22 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. elvira 2015-08-19T16:22:27Z GARD:448 MESH:C535566 MIM:242840 NCI:C138174 ORDO:1493 SNOMEDCT_US_2023_03_01:719824001 UMLS_CUI:C1855772 immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum disease_ontology DOID:0060356 Vici syndrome 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 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. elvira 2015-08-20T12:44:44Z GARD:9683 ICD10CM:E78.3 MESH:C535460 MIM:246700 ORDO:71 SNOMEDCT_US_2023_03_01:702364003 UMLS_CUI:C0795956 Anderson disease CMRD disease_ontology DOID:0060357 chylomicron retention disease 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 CMRD 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. elvira 2015-08-20T16:23:47Z ICD10CM:E71.313 MESH:D054069 MIM:231680 NCI:C84907 ORDO:26791 SNOMEDCT_US_2023_03_01:22886006 UMLS_CUI:C0268596 UMLS_CUI:C1856401 UMLS_CUI:C1856403 UMLS_CUI:C1856405 MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2 disease_ontology DOID:0060358 multiple acyl-CoA dehydrogenase deficiency 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 MADD 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. elvira 2015-09-03T14:23:46Z GARD:115 ICD10CM:Q87.0 MESH:C537227 MIM:101120 ORDO:3128 ACPS with leg hypoplasia Sakati syndrome Sakati-Nyhan-Tisdale syndrome acrocephalopolysyndactyly Type III acrocephalopolysyndactyly type 3 disease_ontology DOID:0060359 Sakati-Nyhan syndrome 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 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. elvira 2015-09-03T14:36:52Z MESH:C566323 MIM:101840 disease_ontology DOID:0060360 hereditary papulotranslucent acrokeratoderma 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 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. elvira 2015-09-03T14:50:46Z ORDO:307967 SNOMEDCT_US_2023_03_01:402773000 UMLS_CUI:C1274216 punctate palmoplantar hyperkeratosis disease_ontology punctate keratosis palmoplantaris DOID:0060361 punctate palmoplantar keratoderma 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 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. elvira 2015-09-03T15:31:19Z MESH:C535653 MIM:101850 ORDO:38 SNOMEDCT_US_2023_03_01:111029001 UMLS_CUI:C0545044 acrokeratoelastoidosis of Costa punctate palmoplantar hyperkeratosis type 3 punctate palmoplantar keratoderma type 3 disease_ontology DOID:0060362 punctate palmoplantar keratoderma type III 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 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. elvira 2015-09-17T15:45:20Z MIM:307030 ORDO:408 SNOMEDCT_US_2023_03_01:297256008 UMLS_CUI:C0574108 disease_ontology DOID:0060363 glycerol kinase deficiency 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 A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. elvira 2015-09-17T16:00:31Z MIM:251300 Galloway syndrome SCAR5 autosomal recessive spinocerebellar ataxia 5 microcephaly, hiatal hernia and nephrotic syndrome nephrosis-microcephaly syndrome nephrosis-neuronal dysmigration syndrome disease_ontology DOID:0060364 Galloway-Mowat syndrome 1 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/ SCAR5 A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. elvira 2015-09-17T16:20:00Z MIM:616367 MFDA disease_ontology DOID:0060365 mandibulofacial dysostosis with alopecia 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 MFDA 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. elvira 2015-09-17T16:36:59Z GARD:3318 MESH:C537255 MIM:235510 MIM:616006 ORDO:2136 SNOMEDCT_US_2023_03_01:234146006 UMLS_CUI:C0340834 Hennekam lymphangiectasia-lymphedema syndrome lymphedem-lymphangiectasia-intellectual disability syndrome disease_ontology DOID:0060366 Hennekam syndrome 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 A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1. elvira 2015-09-17T16:48:14Z MIM:168601 autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1 disease_ontology DOID:0060367 Parkinson's disease 1 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 An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27. elvira 2015-09-17T16:56:33Z MIM:600116 Parkinson disease juvenile type 2 autosomal recessive juvenile Parkinson disease 2 autosomal recessive juvenile Parkinson's disease 2 disease_ontology DOID:0060368 Parkinson's disease 2 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 An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. elvira 2015-09-17T17:00:11Z MIM:605909 PARK6 autosomal recessive early-onset Parkinson disease 6 autosomal recessive early-onset Parkinson's disease 6 early-onset Parkinson disease 6 disease_ontology DOID:0060369 Parkinson's disease 6 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 PARK6 An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. elvira 2015-09-17T17:04:57Z MIM:606324 autosomal recessive early-onset Parkinson disease 7 autosomal recessive early-onset Parkinson's disease 7 disease_ontology DOID:0060370 Parkinson's disease 7 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 A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12. elvira 2015-09-17T17:07:35Z MIM:607060 autosomal dominant Parkinson disease 8 autosomal dominant Parkinson's disease 8 disease_ontology DOID:0060371 Parkinson's disease 8 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 An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. elvira 2015-09-17T17:13:37Z MIM:260300 Parkinsonian-pyramidal syndrome autosomal recessive early-onset Parkinson disease 15 autosomal recessive early-onset Parkinson's disease 15 pallidopyramidal syndrome disease_ontology DOID:0060372 Parkinson's disease 15 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 An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance. elvira 2015-09-18T14:58:32Z MESH:C557817 MIM:258850 ORDO:2752 SNOMEDCT_US_2023_03_01:239030004 UMLS_CUI:C0406726 Sugarman syndrome disease_ontology DOID:0060373 orofaciodigital syndrome III 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 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. elvira 2015-09-18T15:00:19Z MESH:C537133 MIM:258860 ORDO:2753 SNOMEDCT_US_2023_03_01:239031000 UMLS_CUI:C0406727 Baraitser-Burn syndrome OFD4 disease_ontology DOID:0060374 orofaciodigital syndrome IV 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 OFD4 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. elvira 2015-09-18T15:00:19Z MESH:C557819 MIM:174300 ORDO:2919 SNOMEDCT_US_2023_03_01:722105002 UMLS_CUI:C1868118 OFD5 orofaciodigital syndrome Thurston type polydactyly, postaxial, with median cleft of upper lip disease_ontology DOID:0060375 orofaciodigital syndrome V 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 OFD5 A Joubert syndrome that is characterized by orofaciodigital defect. elvira 2015-09-18T15:00:19Z GARD:4412 MESH:C536531 MIM:277170 NCI:C124841 ORDO:2754 SNOMEDCT_US_2023_03_01:721873007 UMLS_CUI:C2745997 OFD6 Polydactyly cleft lip palate psychomotor retardation Varadi syndrome Varadi-Papp syndrome orofaciodigital syndrome VI disease_ontology DOID:0060376 Joubert syndrome with orofaciodigital defect A Joubert syndrome that is characterized by orofaciodigital defect. url:https://www.ncbi.nlm.nih.gov/pubmed/23716954 OFD6 An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance. elvira 2015-09-18T15:00:19Z MESH:C563104 MIM:608518 ORDO:90649 OFD7 Whelan syndrome disease_ontology DOID:0060377 orofaciodigital syndrome VII 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/ OFD7 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. elvira 2015-09-18T15:00:19Z MESH:C557820 MIM:300484 ORDO:2755 SNOMEDCT_US_2023_03_01:722106001 UMLS_CUI:C0796101 OFD8 disease_ontology DOID:0060378 orofaciodigital syndrome VIII 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 OFD8 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. elvira 2015-09-21T15:24:28Z disease_ontology DOID:0060379 acrofacial dysostosis 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 An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones. elvira 2015-09-18T15:00:20Z ICD10CM:Q87.0 MESH:C563491 MIM:165590 ORDO:2756 OFD10 orofaciodigital syndrome with fibular aplasia disease_ontology DOID:0060380 orofaciodigital syndrome X 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/ OFD10 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. elvira 2015-09-18T15:00:20Z MESH:C557821 MIM:612913 ORDO:141000 SNOMEDCT_US_2023_03_01:718681002 UMLS_CUI:C2752048 disease_ontology DOID:0060381 orofaciodigital syndrome XI 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 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. elvira 2015-09-18T15:24:17Z GARD:10520 MESH:C557818 MIM:258865 ORDO:141007 SNOMEDCT_US_2023_03_01:718680001 UMLS_CUI:C0796102 OFD9 orofaciodigital syndrome with retinal abnormalities disease_ontology DOID:0060382 orofaciodigital syndrome IX 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 OFD9 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. elvira 2015-09-21T15:30:41Z GARD:496 MESH:C538183 MIM:201170 ORDO:1788 SNOMEDCT_US_2023_03_01:720430002 UMLS_CUI:C1860119 acrofacial dysostosis, syndrome of Rodriguez disease_ontology DOID:0060383 acrofacial dysostosis Rodriguez type 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 An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. elvira 2015-09-21T15:34:09Z GARD:494 MESH:C538182 MIM:101805 ORDO:1786 SNOMEDCT_US_2023_03_01:720419000 UMLS_CUI:C2931762 Opitz Mollica Sorge syndrome Opitz-Caltabiano syndrome disease_ontology DOID:0060384 acrofacial dysostosis, Catania type 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 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. elvira 2015-09-21T15:38:31Z MESH:C538185 MIM:601829 ORDO:1787 SNOMEDCT_US_2023_03_01:720429007 UMLS_CUI:C1866168 disease_ontology DOID:0060385 acrofacial dysostosis, Patagonia type 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/ 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. elvira 2015-09-22T17:10:37Z MESH:C535924 MIM:610448 MIM:614415 ORDO:90280 UMLS_CUI:C0024145 disease_ontology DOID:0060386 Chilblain lupus 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 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. elvira 2015-09-24T16:23:12Z GARD:914 MESH:C537914 MIM:215045 NCI:C131420 ORDO:50945 UMLS_CUI:C1859148 Blomstrand lethal chondrodysplasia disease_ontology DOID:0060387 chondrodysplasia Blomstrand type 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 A chromosomal disease that has_material_basis_in partial deletion of chromosomes. elvira 2015-09-28T15:48:41Z disease_ontology DOID:0060388 chromosomal deletion syndrome 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/ 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. elvira 2015-09-28T15:50:18Z MESH:C567385 MIM:612242 disease_ontology DOID:0060389 chromosome 10q23 deletion syndrome 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 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. elvira 2015-09-28T16:08:42Z ICD10CM:Q93.5 MESH:C567182 MIM:609625 ORDO:96148 chromosome 10q26 deletion syndrome distal monosomy 10q monosomy 10qter telomeric deletion 10q terminal chromosome 10q26 deletion syndrome disease_ontology DOID:0060390 distal 10q deletion syndrome 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 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. elvira 2015-09-28T16:14:46Z ICD10CM:Q93.5 MIM:613884 ORDO:1587 deletion 13q14 disease_ontology DOID:0060391 chromosome 13q14 deletion syndrome 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/ 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. elvira 2015-09-28T16:18:44Z MIM:613457 ORDO:261120 14q11.2 microdeletion syndrome disease_ontology DOID:0060392 chromosome 14q11-q22 deletion syndrome 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 A chromosomal deletion syndrome that is characterized by intellectual disability, 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. elvira 2015-09-28T16:21:07Z MIM:615656 ORDO:261183 UMLS_CUI:C3180937 15q11.2 microdeletion syndrome disease_ontology DOID:0060393 chromosome 15q11.2 deletion syndrome A chromosomal deletion syndrome that is characterized by intellectual disability, 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 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. elvira 2015-09-28T16:23:21Z GARD:10296 ICD10CM:Q93.5 MESH:C567439 MIM:612001 ORDO:199318 15q13.3 microdeletion syndrome disease_ontology DOID:0060394 chromosome 15q13.3 microdeletion syndrome 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 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. elvira 2015-09-28T16:25:55Z GARD:12219 ICD10CM:Q93.5 MESH:C579849 MIM:613406 ORDO:94065 15q24 microdeletion syndrome disease_ontology DOID:0060395 chromosome 15q24 deletion syndrome 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 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. elvira 2015-09-28T16:28:12Z MIM:614294 disease_ontology DOID:0060396 chromosome 15q25 deletion syndrome 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 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. elvira 2015-09-28T16:30:51Z ICD10CM:Q93.5 MESH:C567232 MIM:612626 ORDO:1596 15q26 deletion syndrome Drayer syndrome distal 15q deletion syndrome distal monosomy 15q telomeric 15q deletion syndrome disease_ontology DOID:0060397 chromosome 15q26-qter deletion syndrome 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 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. elvira 2015-09-28T16:35:34Z MIM:613444 ORDO:261222 UMLS_CUI:C3150701 UMLS_CUI:C4518824 distal 16p11.2 microdeletion syndrome disease_ontology DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb ICD10CM:Q93.5 MIM:613444 ORDO:261222 UMLS_CUI:C3150701 UMLS_CUI:C4518824 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 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. elvira 2015-09-28T16:36:57Z MIM:136570 disease_ontology DOID:0060399 chromosome 16p12.1 deletion syndrome 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 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. elvira 2015-09-28T16:42:38Z ICD10CM:Q93.5 MIM:613604 ORDO:261211 16p11.2-p12.2 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome disease_ontology DOID:0060400 chromosome 16p12.2-p11.2 deletion syndrome 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 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. elvira 2015-09-28T16:46:03Z MIM:614541 disease_ontology DOID:0060401 chromosome 16q22 deletion syndrome 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 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. elvira 2015-09-28T16:49:53Z GARD:10996 MESH:D054221 MIM:613776 disease_ontology DOID:0060402 chromosome 17p13.1 deletion syndrome 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 A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. elvira 2015-09-28T16:52:05Z ICD10CM:Q85.0 MESH:C563524 MIM:613675 ORDO:97685 17q11 microdeletion syndrome NF1 microdeletion syndrome Van Asperen syndrome neurofibromatosis type 1 microdeletion syndrome disease_ontology DOID:0060403 chromosome 17q11.2 deletion syndrome 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/ 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. elvira 2015-09-28T16:55:38Z GARD:13297 ICD10CM:Q93.5 MIM:614527 ORDO:261265 17q12 microdeletion syndrome disease_ontology DOID:0060404 chromosome 17q12 deletion syndrome 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 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. elvira 2015-09-28T16:58:27Z GARD:10936 ICD10CM:Q93.5 MIM:613355 ORDO:261279 17q23.1-q23.2 microdeletion syndrome 17q23.1q23.2 microdeletion syndrome disease_ontology DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome 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 A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. elvira 2015-09-28T17:01:47Z GARD:8631 MESH:C538309 MIM:146390 NCI:C84521 ORDO:1598 SNOMEDCT_US_2023_03_01:205632001 UMLS_CUI:C0432442 18p- syndrome De Grouchy syndrome monosomy 18p disease_ontology DOID:0060406 chromosome 18p deletion syndrome 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 A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. elvira 2015-09-28T17:05:53Z ICD10CM:Q93.5 MESH:C536580 MIM:601808 ORDO:1600 18q- syndrome deletion 18q monosomy 18q disease_ontology DOID:0060407 chromosome 18q deletion syndrome 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 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. elvira 2015-09-28T17:09:44Z GARD:10592 MESH:C567810 MIM:613026 ORDO:217346 UMLS_CUI:C2751651 19q13.11 microdeletion syndrome monosomy 19q13.11 disease_ontology DOID:0060408 chromosome 19q13.11 deletion syndrome 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 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. elvira 2015-09-28T17:12:14Z ICD10CM:Q93.5 MESH:C535594 MIM:613735 ORDO:401986 1p31p32 microdeletion syndrome Chromosome 1, Monosomy 1p32 brain malformations with or without urinary tract defects chromosome 1p32-p31 deletion syndrome disease_ontology DOID:0060409 NFIA-related disorder 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/ 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. elvira 2015-09-28T17:14:10Z GARD:6082 MESH:C535362 MIM:607872 NCI:C74983 ORDO:1606 SNOMEDCT_US_2023_03_01:699306003 UMLS_CUI:C1842870 1p36 deletion syndrome deletion 1p36 monosomy 1p36 disease_ontology subtelomeric 1p36 deletion DOID:0060410 chromosome 1p36 deletion syndrome 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 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. elvira 2015-09-28T17:17:38Z GARD:10813 ICD10CM:Q93.5 MIM:612474 ORDO:250989 1q21.1 microdeletion syndrome disease_ontology monosomy 1q21.1 DOID:0060411 chromosome 1q21.1 deletion syndrome 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 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. elvira 2015-09-28T17:24:43Z GARD:3738 ICD10CM:Q93.5 MIM:612530 ORDO:250999 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome disease_ontology DOID:0060412 chromosome 1q41-q42 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. url:https://pubmed.ncbi.nlm.nih.gov/16736036/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome. elvira 2015-09-28T17:28:28Z MESH:C567511 MIM:611867 ORDO:261330 DiGeorge syndrome and Velocardiofacial syndrome distal 22q11.2 microdeletion syndrome disease_ontology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal 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 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region. elvira 2015-09-28T17:31:12Z MIM:613564 disease_ontology DOID:0060414 chromosome 2p12-p11.2 deletion syndrome 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/ 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. elvira 2015-09-28T17:32:44Z GARD:13391 ICD10CM:Q93.5 MESH:C567289 MIM:612513 ORDO:261349 2p15p16.1 microdeletion syndrome disease_ontology 2p15-p16.1 microdeletion syndrome DOID:0060415 chromosome 2p16.1-p15 deletion syndrome 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/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region. elvira 2015-09-28T17:36:55Z MESH:C567344 MIM:612345 disease_ontology DOID:0060416 chromosome 2q31.2 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region. url:https://pubmed.ncbi.nlm.nih.gov/19248183/ 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. elvira 2015-09-28T17:38:32Z ICD10CM:Q93.5 MIM:613792 ORDO:1620 chromosome 3pter-P25 deletion syndrome distal monosomy 3p disease_ontology DOID:0060417 3p deletion syndrome 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 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. elvira 2015-09-28T17:42:28Z MESH:C536808 MIM:615433 ORDO:1621 SNOMEDCT_US_2023_03_01:726705007 UMLS_CUI:C2931338 3q13 microdeletion syndrome monosomy 3q13 disease_ontology DOID:0060418 chromosome 3q13.31 deletion syndrome 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/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region. elvira 2015-09-28T17:45:50Z GARD:11974 MESH:C567184 MIM:609425 ORDO:65286 3q subtelomere deletion syndrome 3q29 microdeletion syndrome 3q29 recurrent deletion 3qter deletion disease_ontology DOID:0060419 chromosome 3q29 microdeletion syndrome 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/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region. elvira 2015-09-28T17:49:18Z MIM:613509 ORDO:238750 4q21 microdeletion syndrome monosomy 4q21 disease_ontology DOID:0060420 chromosome 4q21 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region. url:https://pubmed.ncbi.nlm.nih.gov/20522426/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region. elvira 2015-09-28T17:52:47Z MIM:615668 disease_ontology DOID:0060421 chromosome 5q12 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region. url:https://pubmed.ncbi.nlm.nih.gov/24203977/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. elvira 2015-09-28T17:55:16Z ICD10CM:Q93.5 MESH:C567239 MIM:612582 ORDO:96125 6p subtelomeric deletion syndrome 6p25 microdeletion syndrome distal monosomy 6p disease_ontology DOID:0060422 chromosome 6pter-p24 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. url:https://pubmed.ncbi.nlm.nih.gov/18629875/ 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. elvira 2015-09-28T17:58:28Z MIM:613544 disease_ontology DOID:0060423 chromosome 6q11-q14 deletion syndrome 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/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region. elvira 2015-09-28T17:59:36Z MIM:612863 ORDO:251056 6q25 microdeletion syndrome monosomy 6q25 disease_ontology DOID:0060424 chromosome 6q24-q25 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region. url:https://pubmed.ncbi.nlm.nih.gov/17512813/ 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. elvira 2015-09-28T18:06:23Z ICD10CM:Q93.5 MIM:614230 ORDO:284160 8q21.11 microdeletion syndrome disease_ontology DOID:0060425 chromosome 8q21.11 deletion syndrome 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/ 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. elvira 2015-09-29T15:26:36Z MIM:613638 disease_ontology DOID:0060426 chromosome 19p13.13 deletion syndrome 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 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. elvira 2015-09-29T16:13:28Z ICD10CM:Q99.8 MIM:300679 ORDO:261476 Xp21 microdeletion syndrome complex glycerol kinase deficiency monosomy Xp21 disease_ontology DOID:0060427 chromosome Xp21 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. url:https://pubmed.ncbi.nlm.nih.gov/17089405/ 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. elvira 2015-10-01T15:37:11Z ICD10CM:Q93.5 MESH:C567350 MIM:612313 ORDO:251019 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome Glass syndrome chromosome 2q32-q33 deletion syndrome monosomy 2q32 monosomy 2q32-q33 monosomy 2q32q33 disease_ontology DOID:0060428 SATB2-associated syndrome 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/ A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. elvira 2015-10-02T15:19:23Z disease_ontology DOID:0060429 chromosomal duplication syndrome 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/ 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. elvira 2015-10-02T15:19:40Z ICD10CM:Q92.3 MIM:614671 ORDO:370079 proximal 16p11.2 microduplication syndrome proximal dup(16)(p11.2) proximal trisomy 16p11.2 disease_ontology DOID:0060430 chromosome 16p11.2 duplication syndrome 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 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region. elvira 2015-10-02T15:43:05Z ICD10CM:Q92.3 MIM:613458 ORDO:96078 16p13.3 microduplication syndrome distal duplication 16p distal trisomy 16p telomeric duplication 16p disease_ontology DOID:0060431 chromosome 16p13.3 duplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region. url:https://pubmed.ncbi.nlm.nih.gov/19833603/ A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3. elvira 2015-10-02T15:45:43Z ICD10CM:Q92.3 MESH:C567705 MIM:613215 ORDO:217385 17p13.3 duplication syndrome 17p13.3 microduplication syndrome chromosome 17p13.3 centromeric duplication syndrome trisomy 17p13.3 disease_ontology DOID:0060432 chromosome 17p13.3 duplication syndrome 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/ A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region. elvira 2015-10-02T15:49:05Z GARD:13296 ICD10CM:Q92.3 MIM:614526 ORDO:261272 17q12 microduplication syndrome trisomy 17q12 disease_ontology DOID:0060433 chromosome 17q12 duplication syndrome 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/ A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region. elvira 2015-10-02T15:50:26Z ICD10CM:Q92.3 MIM:613533 ORDO:217340 17q21.31 microduplication syndrome trisomy 17q21.31 disease_ontology DOID:0060434 chromosome 17q21.31 duplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region. url:https://pubmed.ncbi.nlm.nih.gov/19502243/ A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region. elvira 2015-10-02T16:58:42Z GARD:10591 ICD10CM:Q92.3 MESH:C567290 MIM:612475 ORDO:250994 1q21.1 microduplication syndrome trisomy 1q21.1 disease_ontology DOID:0060435 chromosome 1q21.1 duplication syndrome 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 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region. elvira 2015-10-02T17:02:03Z ICD10CM:Q92.3 MESH:C567224 MIM:608363 ORDO:1727 22q11.2 microduplication syndrome duplication 22q11.2 trisomy 22q11.2 disease_ontology DOID:0060436 chromosome 22q11.2 microduplication syndrome 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 A chromosomal duplication syndrome that has_material_basis_in heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene. elvira 2015-10-02T17:11:03Z MIM:615538 disease_ontology DOID:0060437 chromosome 22q13 duplication syndrome 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/ An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. elvira 2015-10-06T16:24:18Z MESH:C535963 MIM:112240 MIM:616294 NCI:C130985 ORDO:2050 disease_ontology DOID:0060438 Cole-Carpenter syndrome 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 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. elvira 2015-10-13T15:04:00Z GARD:3335 MESH:C562687 MIM:222700 NCI:C121563 ORDO:470 SNOMEDCT_US_2023_03_01:13138006 UMLS_CUI:C0268647 LPI dibasic amino aciduria II hyperdibasic aminoaciduria disease_ontology DOID:0060439 lysinuric protein intolerance 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 LPI A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane. elvira 2015-10-16T16:37:13Z disease_ontology DOID:0060440 epithelial and subepithelial dystrophy A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane. url:https://www.ncbi.nlm.nih.gov/pubmed/19236704 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. elvira 2015-10-16T16:39:25Z disease_ontology DOID:0060441 epithelial-stromal TGFBI dystrophy 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 A corneal dystrophy that affects the corneal stroma. elvira 2015-10-16T16:39:25Z disease_ontology DOID:0060442 stromal dystrophy A corneal dystrophy that affects the corneal stroma. url:https://www.ncbi.nlm.nih.gov/pubmed/19236704 A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane. elvira 2015-10-16T16:39:25Z endothelial dystrophy disease_ontology DOID:0060443 corneal endothelial dystrophy A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane. url:https://www.ncbi.nlm.nih.gov/pubmed/19236704 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. elvira 2015-10-16T16:44:27Z MESH:C535474 MIM:607541 ORDO:98963 SNOMEDCT_US_2023_03_01:397568004 UMLS_CUI:C1275685 CGD2 avellino corneal dystrophy combined granular-lattice corneal dystrophy corneal dystrophy, Avellino type granular corneal dystrophy type 2 disease_ontology DOID:0060444 granular corneal dystrophy 2 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 CGD2 A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. elvira 2015-10-16T17:09:23Z ICD10CM:H18.5 MESH:C566452 MIM:610048 ORDO:101068 CSCD congenital hereditary stromal dystrophy disease_ontology DOID:0060445 congenital stromal corneal dystrophy 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/ CSCD A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. elvira 2015-10-16T17:13:34Z ICD10CM:H18.5 MESH:C567587 MIM:300779 ORDO:293621 XECD disease_ontology DOID:0060446 X-linked endothelial corneal dystrophy 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/ XECD 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. elvira 2015-10-16T17:17:01Z ICD10CM:H18.5 MESH:C535477 MIM:121820 ORDO:98956 Cogan corneal dystrophy EBMD microcystic corneal dystrophy disease_ontology DOID:0060447 epithelial basement membrane dystrophy 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/ EBMD 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. elvira 2015-10-16T17:20:34Z MESH:C563256 MIM:121850 ORDO:98970 SNOMEDCT_US_2023_03_01:417183007 UMLS_CUI:C1562113 FCD Francois-Neetens speckled corneal dystrophy disease_ontology DOID:0060448 Fleck corneal dystrophy 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 FCD 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. elvira 2015-10-16T17:26:37Z MESH:C535480 MIM:204870 NCI:C142805 ORDO:98957 SNOMEDCT_US_2023_03_01:419900000 UMLS_CUI:C0339273 GDCD corneal amyloidosis primary familial amyloidosis of the cornea subepithelial amyloidosis of the cornea disease_ontology DOID:0060449 gelatinous drop-like corneal dystrophy 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/ GDCD 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. elvira 2015-10-16T17:42:58Z ICD10CM:H18.5 MESH:C567588 MIM:620763 ORDO:98955 LECD band-shaped and whorled microcystic disease_ontology DOID:0060450 Lisch epithelial corneal dystrophy 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/ LECD An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. elvira 2015-10-16T17:45:27Z GARD:9688 ICD10CM:H18.52 ICD9CM:371.51 MESH:D053559 MIM:PS122100 NCI:C84795 ORDO:98954 SNOMEDCT_US_2023_03_01:193833008 UMLS_CUI:C0339277 MECD Stocker-Holt dystrophy juvenile hereditary epithelial dystrophy disease_ontology DOID:0060451 Meesmann corneal dystrophy 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 MECD 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. elvira 2015-10-16T17:48:04Z ICD10CM:H18.5 MESH:C567546 MIM:612868 ORDO:98971 PACD chromosome 12q21.33 deletion syndrome disease_ontology DOID:0060452 posterior amorphous corneal dystrophy 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/ PACD 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. elvira 2015-10-16T17:51:03Z MESH:C535476 MIM:608470 ORDO:98961 SNOMEDCT_US_2023_03_01:231930000 UMLS_CUI:C0339278 RBCD anterior limiting membrane dystrophy type I corneal dystrophy of Bowman layer type I geographic corneal dystrophy granular corneal dystrophy type III disease_ontology DOID:0060453 Reis-Bucklers corneal dystrophy 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 RBCD An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life. elvira 2015-10-16T17:55:14Z ICD10CM:H18.5 MESH:C567547 MIM:612867 ORDO:98959 SMCD disease_ontology DOID:0060454 subepithelial mucinous corneal dystrophy 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/ SMCD 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. elvira 2015-10-16T17:57:16Z MESH:C535942 MIM:602082 ORDO:98960 SNOMEDCT_US_2023_03_01:417065002 UMLS_CUI:C1562894 TBCD Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II disease_ontology DOID:0060455 Thiel-Behnke corneal dystrophy 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 TBCD 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. elvira 2015-10-16T18:01:14Z GARD:9277 MESH:C535475 MIM:121800 ORDO:98967 SNOMEDCT_US_2023_03_01:420212002 UMLS_CUI:C0271287 SCCD Schnyder crystalline corneal dystrophy corneal dystrophy crystalline of Schnyder crystalline stromal dystrophy hereditary crystalline stromal dystrophy of Schnyder disease_ontology DOID:0060456 Schnyder corneal dystrophy 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/ SCCD A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer. elvira 2015-10-16T18:05:26Z ICD10CM:H18.5 MESH:C562745 MIM:PS122000 ORDO:98973 PPCD Schlichting dystrophy hereditary polymorphus posterior corneal dystrophy disease_ontology DOID:0060457 posterior polymorphous corneal dystrophy 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 PPCD A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region. elvira 2015-10-19T14:42:34Z MIM:613681 disease_ontology DOID:0060458 chromosome 2q31.1 duplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region. url:https://pubmed.ncbi.nlm.nih.gov/20577005/ A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region. elvira 2015-10-19T14:45:49Z GARD:10360 ICD10CM:Q92.3 MESH:C567626 MIM:611936 ORDO:251038 3q29 microduplication trisomy 3q29 disease_ontology DOID:0060459 chromosome 3q29 microduplication syndrome 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 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region. elvira 2015-10-19T15:25:26Z ICD10CM:Q92.3 MESH:C567717 MIM:613174 ORDO:329802 5p13 microduplication syndrome trisomy 5p13 disease_ontology DOID:0060460 chromosome 5p13 duplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region. url:https://pubmed.ncbi.nlm.nih.gov/19052029/ A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region. elvira 2015-10-19T15:29:51Z ICD10CM:Q99.8 MESH:C567585 MIM:300801 ORDO:217377 microduplication Xp11.22-p11.23 syndrome trisomy Xp11.22-p11.23 disease_ontology DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome 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/ An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. elvira 2015-11-02T16:22:42Z GARD:1818 MESH:C535943 MIM:251450 MIM:615777 NCI:C124056 ORDO:1425 SNOMEDCT_US_2023_03_01:254099008 UMLS_CUI:C0432242 Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification disease_ontology DOID:0060462 Desbuquois dysplasia 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 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. elvira 2015-11-04T14:54:36Z NCI:C45716 SNOMEDCT_US_2023_03_01:733922002 UMLS_CUI:C1707291 nuclear protein in testis midline carcinoma disease_ontology DOID:0060463 NUT midline carcinoma 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 A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. elvira 2015-11-04T16:11:58Z GARD:8407 ICD10CM:Q87.8 MESH:C537734 MIM:164280 MIM:614326 ORDO:1305 FGLDS MODED syndrome ODED syndrome digital anomalies with short palpebral fissures and atresia of esophagus or duodenum microcephaly-digital anomalies-normal intelligence syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome oculo-digito-esophageal-duodenal syndrome disease_ontology DOID:0060464 Feingold syndrome 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 FGLDS 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. elvira 2015-11-04T16:24:41Z GARD:2321 MESH:C562524 MIM:PS228520 ORDO:2021 SNOMEDCT_US_2023_03_01:17144009 UMLS_CUI:C0265282 disease_ontology DOID:0060465 fibrochondrogenesis 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 A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. elvira 2015-11-04T16:47:21Z MESH:C562884 MIM:135300 MIM:605544 MIM:609955 MIM:611010 ORDO:2024 SNOMEDCT_US_2023_03_01:109620006 UMLS_CUI:C0399440 hereditary gingival fibromatosis hereditary gingival hyperplasia disease_ontology DOID:0060466 gingival fibromatosis 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 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. 2015-11-11T21:29:39Z GARD:2748 MESH:C535284 MIM:143050 MIM:236400 ORDO:3265 SNOMEDCT_US_2021_07_31:205329008 disease_ontology humero-radial fusion DOID:0060467 humeroradial synostosis 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 A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. elvira 2015-11-17T16:06:23Z GARD:6666 ICD10CM:Q87.2 MESH:C535326 MIM:142900 NCI:C125592 ORDO:392 SNOMEDCT_US_2023_03_01:205814003 UMLS_CUI:C0265264 atrio-digital syndrome atriodigital dysplasia heart-hand syndrome disease_ontology DOID:0060468 Holt-Oram syndrome 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 A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. elvira 2015-11-17T16:22:00Z ICD10CM:Q93.88 MESH:D054221 MIM:247200 NCI:C124852 ORDO:531 SNOMEDCT_US_2023_03_01:253148005 UMLS_CUI:C0265219 MDS Miller-Dieker syndrome disease_ontology DOID:0060469 Miller-Dieker lissencephaly syndrome 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 MDS 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. elvira 2015-11-17T16:40:23Z MIM:609056 ORDO:370938 salt & pepper syndrome salt-and-pepper syndrome disease_ontology DOID:0060470 salt and pepper syndrome 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 A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. elvira 2015-11-17T16:47:50Z MESH:C536525 MIM:609442 NCI:C98930 ORDO:1906 SNOMEDCT_US_2023_03_01:205792006 UMLS_CUI:C0236026 fetal valproic acid syndrome foetal valproate syndrome foetal valproic acid syndrome disease_ontology DOID:0060471 fetal valproate syndrome 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 A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. elvira 2015-11-17T16:54:49Z GARD:4391 MESH:C536321 MIM:173650 ORDO:306539 hereditary acrokeratotic poikiloderma of Kindler-Weary poikiloderma of Kindler disease_ontology DOID:0060472 Kindler syndrome 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 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. elvira 2015-11-18T16:21:35Z GARD:6810 MESH:C537705 MIM:147920 MIM:300867 NCI:C124837 ORDO:2322 SNOMEDCT_US_2023_03_01:205805008 UMLS_CUI:C0796004 KMS Kabuki make up syndrome Niikawa-Kuroki syndrome disease_ontology DOID:0060473 Kabuki syndrome 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 KMS A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. elvira 2015-11-18T16:42:50Z ICD10CM:D75.1 MIM:263400 ORDO:238557 Chuvash erythromatosis Chuvash polycythemia Chuvash type polycythemia ECYT2 autosomal recessive benign erythrocytosis disease_ontology DOID:0060474 familial erythrocytosis 2 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 ECYT2 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. elvira 2015-11-19T16:30:12Z MIM:616421 EEOC childhood onset epileptic encephalopathy disease_ontology DOID:0060475 myoclonic-atonic epilepsy 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 EEOC 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. elvira 2015-11-20T16:04:30Z GARD:3936 ICD10CM:Q87.3 MESH:C536399 MIM:267000 ORDO:2849 nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor renal hamartomas, nephroblastomatosis and fetal gigantism disease_ontology DOID:0060476 Perlman syndrome 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 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. ICD10CM:A92.8 MESH:D000071243 Zika virus disease disease_ontology DOID:0060478 Zika fever 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/ A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. DOID:0080023 GARD:4863 ICD10CM:D61.0 MESH:D000081003 MIM:260400 Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond type metaphyseal dysplasia pancreatic insufficiency and bone marrow dysfunction disease_ontology DOID:0060479 Shwachman-Diamond syndrome 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 An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. GARD:10985 MIM:604169 ORDO:54260 left ventricular hypertrabeculation disease_ontology DOID:0060480 left ventricular noncompaction An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. url:https://www.ncbi.nlm.nih.gov/pubmed/16567565 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. GARD:9849 MESH:C537279 MIM:609460 ORDO:66629 SNOMEDCT_US_2023_03_01:717822006 UMLS_CUI:C1836123 Goldberg-Shprintzen megacolon syndrome disease_ontology DOID:0060481 Goldberg-Shprintzen syndrome 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 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. ICD10CM:Q87.8 MESH:C567416 MIM:612109 ORDO:157962 disease_ontology DOID:0060482 oculoauricular syndrome 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 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. MIM:609313 ORDO:171851 erythrokeratodermia variabilis 3 erythrokeratodermia variabilis, Kamouraska type mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia disease_ontology DOID:0060483 MEDNIK syndrome 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 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. MESH:C557674 MIM:612780 ORDO:199343 SNOMEDCT_US_2023_03_01:721207002 UMLS_CUI:C2748572 SeSAME syndrome epilepsy, ataxia, sensorineural deafness and tubulopathy seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance disease_ontology DOID:0060484 EAST syndrome 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 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. GARD:9673 MESH:C536990 MIM:235730 NCI:C74999 ORDO:2152 SNOMEDCT_US_2023_03_01:703535000 UMLS_CUI:C1856113 Hirschsprung disease mental retardation syndrome microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease disease_ontology DOID:0060485 Mowat-Wilson syndrome 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 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. GARD:10453 MESH:C566822 MIM:168605 ORDO:178509 parkinsonism with alveolar hypoventilation and mental depression disease_ontology DOID:0060486 Perry syndrome 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 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. GARD:4372 MESH:C537403 MIM:610954 NCI:C129872 ORDO:2896 SNOMEDCT_US_2023_03_01:702344008 UMLS_CUI:C1970431 disease_ontology DOID:0060488 Pitt-Hopkins syndrome 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 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. GARD:4984 MESH:C536629 MIM:242900 NCI:C135087 ORDO:1830 SNOMEDCT_US_2023_03_01:723995003 UMLS_CUI:C0877024 Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome disease_ontology DOID:0060490 Schimke immuno-osseous dysplasia 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 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. ICD10CM:G11.4 MESH:C563702 MIM:609541 ORDO:320406 spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy syndrome disease_ontology DOID:0060491 SPOAN syndrome 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 An egg allergy triggered by Gallus gallus eggs. Gallus gallus egg allergy disease_ontology DOID:0060492 chicken egg allergy 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 A food allergy triggered by Crustacea or Mollusca. disease_ontology DOID:0060495 shellfish allergy 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 An allergic disease that is located_in the respiratory tract. airway allergy disease_ontology DOID:0060496 respiratory allergy 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 A respiratory allergy triggered by pollen. disease_ontology DOID:0060497 pollen allergy A respiratory allergy triggered by pollen. url:https://acaai.org/allergies/types-allergies/pollen-allergy url:https://www.aafa.org/pollen-allergy/ A pollen allergy triggered by Phleum pratense pollen. disease_ontology DOID:0060498 Timothy grass allergy A pollen allergy triggered by Phleum pratense pollen. url:https://www.ncbi.nlm.nih.gov/pubmed/25685162 An autoimmune disease of central nervous system caused by an autoimmune response. disease_ontology DOID:0060499 autoimmune neuropathy 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 An allergic disease that is triggered by a drug. disease_ontology DOID:0060500 drug allergy An allergic disease that is triggered by a drug. url:https://www.mayoclinic.org/diseases-conditions/drug-allergy/symptoms-causes/syc-20371835 An allergic disease that is triggered by a metal. disease_ontology DOID:0060501 metal allergy An allergic disease that is triggered by a metal. url:https://www.ncbi.nlm.nih.gov/pubmed/27228132 An allergic disease that is located_in the gastrointestinal tract. disease_ontology DOID:0060502 gastrointestinal allergy An allergic disease that is located_in the gastrointestinal tract. url:https://www.ncbi.nlm.nih.gov/pubmed/18721321 A food allergy triggered by a plant fruit product. disease_ontology DOID:0060503 fruit allergy 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 A fruit allergy triggered by Malus domestica plant fruit food product. Malus domestica fruit allergy disease_ontology DOID:0060504 apple allergy 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 A fruit allergy triggered by Prunus armeniaca plant fruit food product. Prunus armeniaca fruit allergy disease_ontology DOID:0060505 apricot allergy 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 A fruit allergy triggered by Prunus avium plant fruit food product. Prunus avium fruit allergy disease_ontology DOID:0060506 cherry allergy 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 A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. Ziziphus mauritiana fruit allergy disease_ontology DOID:0060507 Indian plum allergy 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 A fruit allergy triggered by Citrus sinensis plant fruit food product. Citrus sinensis fruit allergy disease_ontology DOID:0060508 orange allergy 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 A fruit allergy triggered by Cucumis melo plant fruit food product. Cucumis melo fruit allergy disease_ontology DOID:0060509 melon allergy 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 A fruit allergy triggered by Prunus persica plant fruit food product. Prunus persica fruit allergy disease_ontology DOID:0060510 peach allergy A fruit allergy triggered by Prunus persica plant fruit food product. url:https://www.ncbi.nlm.nih.gov/pubmed/30672059 A fruit allergy triggered by Prunus domestica plant fruit food product. Prunus domestica fruit allergy disease_ontology DOID:0060511 plum allergy 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 A fruit allergy triggered by Solanum lycopersicum plant fruit food product. Solanum lycopersicum fruit allergy disease_ontology DOID:0060512 tomato allergy 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 A food allergy triggered by fish. disease_ontology DOID:0060513 fish allergy 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 A fish allergy triggered by Gadus morhua. Gadus morhua fish allergy disease_ontology DOID:0060514 Atlantic cod allergy 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 A fish allergy triggered by Salmo salar. Salmo salar fish allergy disease_ontology DOID:0060515 Atlantic salmon allergy 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 A fish allergy triggered by Cyprinus carpio. Cyprinus carpio fish allergy disease_ontology DOID:0060516 carp allergy 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 A fish allergy triggered by Danio rerio. Danio rerio allergy disease_ontology DOID:0060517 zebrafish allergy A fish allergy triggered by Danio rerio. url:https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy A fish allergy triggered by Oncorhynchus mykiss. Oncorhynchus mykiss allergy disease_ontology DOID:0060518 rainbow trout allergy 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 A drug allergy triggered by a beta-lactam. disease_ontology DOID:0060519 beta-lactam allergy 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 A beta-lactam allergy triggered by penicillin. disease_ontology DOID:0060520 penicillin allergy 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 A milk allergy triggered by Bos taurus milk. Bos taurus milk allergy disease_ontology DOID:0060521 cow milk allergy A milk allergy triggered by Bos taurus milk. url:https://www.ncbi.nlm.nih.gov/pubmed/31083388 A milk allergy triggered by Capra hircus milk. Capra hircus milk allergy disease_ontology DOID:0060522 goat milk allergy 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 A shellfish allergy triggered by Mollusca. disease_ontology DOID:0060523 mollusc allergy 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 A shellfish allergy triggered by Crustacea. disease_ontology DOID:0060524 crustacean allergy 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 A crustacean allergy triggered by Farfantepenaeus aztecus. Farfantepenaeus aztecus allergy disease_ontology DOID:0060525 brown shrimp allergy 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 A crustacean allergy triggered by Scylla paramamosain. Scylla paramamosain allergy green mud crab allergy disease_ontology DOID:0060526 crab allergy 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 A crustacean allergy triggered by Fenneropenaeus indicus. Fenneropenaeus indicus allergy disease_ontology DOID:0060527 Indian prawn allergy 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 A crustacean allergy triggered by Penaeus monodon. Penaeus monodon allergy disease_ontology DOID:0060528 tiger prawn allergy 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 A crustacean allergy triggered by Litopenaeus vannamei. Litopenaeus vannamei allergy disease_ontology DOID:0060529 white shrimp allergy 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 A mollusc allergy triggered by snails. disease_ontology DOID:0060530 snail allergy 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 A snail allergy triggered by the horned turban snail. Turbo cornutus allergy disease_ontology DOID:0060531 horned turban snail allergy A snail allergy triggered by the horned turban snail. url:https://farrp.unl.edu/informallmollshellfish An allergic disease that is triggered by latex. disease_ontology DOID:0060532 latex allergy 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 An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. ICDO:8576/3 NCI:C66950 disease_ontology DOID:0060534 hepatoid adenocarcinoma 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 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. GARD:13708 MIM:613398 ORDO:280558 WABS disease_ontology DOID:0060535 Warsaw breakage syndrome 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 WABS 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. GARD:3908 MESH:C537475 ORDO:2609 SNOMEDCT_US_2023_03_01:237988006 UMLS_CUI:C1838979 isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated mitochondrial respiratory chain complex I deficiency disease_ontology DOID:0060536 mitochondrial complex I deficiency 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 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. GARD:5053 ICD10CM:G71.3 MESH:C565375 MIM:252011 ORDO:3208 isolated mitochondrial respiratory chain complex II deficiency isolated succinate-CoQ reductase deficiency isolated succinate-coenzyme Q reductase deficiency isolated succinate-ubiquinone reductase deficiency disease_ontology DOID:0060537 mitochondrial complex II deficiency 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 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. ICD10CM:D65 MESH:D055665 ORDO:49566 purpura gangrenosa disease_ontology DOID:0060538 purpura fulminans 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 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. MIM:203300 disease_ontology DOID:0060539 Hermansky-Pudlak syndrome 1 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 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. MESH:C537709 MIM:608233 disease_ontology DOID:0060540 Hermansky-Pudlak syndrome 2 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 A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24. MIM:614072 disease_ontology DOID:0060541 Hermansky-Pudlak syndrome 3 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 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. MIM:614073 disease_ontology DOID:0060542 Hermansky-Pudlak syndrome 4 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 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14. MIM:614074 disease_ontology DOID:0060543 Hermansky-Pudlak syndrome 5 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14. url:http://omim.org/entry/614074 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24. MIM:614075 disease_ontology DOID:0060544 Hermansky-Pudlak syndrome 6 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 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. MIM:614076 disease_ontology DOID:0060545 Hermansky-Pudlak syndrome 7 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 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. MIM:614077 disease_ontology DOID:0060546 Hermansky-Pudlak syndrome 8 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. url:http://omim.org/entry/614077 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21. MIM:614171 disease_ontology DOID:0060547 Hermansky-Pudlak syndrome 9 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 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. breast tumor luminal luminal breast cancer NCI:C53554 UMLS_CUI:C3642345 Luminal A Breast Carcinoma disease_ontology DOID:0060548 luminal breast carcinoma A 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/ 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. GARD:819 MESH:C537908 MIM:209885 ORDO:1231 SNOMEDCT_US_2023_03_01:408537003 UMLS_CUI:C1319466 disease_ontology DOID:0060549 Barber-Say syndrome 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 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. GARD:3 MESH:C535557 MIM:200110 ORDO:920 SNOMEDCT_US_2023_03_01:718575002 UMLS_CUI:C1860224 disease_ontology DOID:0060550 ablepharon macrostomia syndrome 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 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. GARD:4085 ICD10CM:D82.8 MESH:C565820 MIM:604173 ORDO:221046 poikiloderma with neutropenia, Clericuzio type disease_ontology DOID:0060551 poikiloderma with neutropenia 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 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. MESH:C537177 MIM:606693 ORDO:306674 SNOMEDCT_US_2023_03_01:723992000 UMLS_CUI:C1847640 autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9 disease_ontology DOID:0060556 Kufor-Rakeb syndrome 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 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. MIM:615217 ataxia-oculomotor apraxia 3 disease_ontology DOID:0060557 ataxia with oculomotor apraxia type 3 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 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. GARD:12643 ICD10CM:Q68.8 MIM:PS253310 ORDO:294965 disease_ontology DOID:0060558 lethal congenital contracture syndrome 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 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. GARD:3227 MESH:C537194 MIM:253310 ORDO:1486 SNOMEDCT_US_2023_03_01:715418007 UMLS_CUI:C1854664 LCCS1 multiple contracture syndrome, Finnish type disease_ontology DOID:0060559 lethal congenital contracture syndrome 1 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 LCCS1 A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. GARD:9177 MESH:C564369 MIM:607598 ORDO:137776 LCCS2 multiple contracture syndrome, Israeli-Bedouin type disease_ontology DOID:0060560 lethal congenital contracture syndrome 2 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 LCCS2 A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene. disease_ontology DOID:0060561 obsolete DMD-related dilated cardiomyopathy true A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene. url:https://ghr.nlm.nih.gov/condition/dmd-associated-dilated-cardiomyopathy A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. MESH:D063748 ALCAPA Bland-White-Garland syndrome White-Garland syndrome disease_ontology DOID:0060562 anomalous left coronary artery from the pulmonary artery 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 ALCAPA A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. GARD:1237 MESH:C566815 MIM:169100 disease_ontology DOID:0060563 Char syndrome A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. url:https://pubmed.ncbi.nlm.nih.gov/10368122/ A bone disease that is located_in the spine. disease_ontology DOID:0060564 spinal disease A bone disease that is located_in the spine. url:https://en.wikipedia.org/wiki/Spinal_disease 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. MESH:C535313 MIM:PS220210 ORDO:7 SNOMEDCT_US_2023_03_01:718556007 UMLS_CUI:C0796137 CCC dysplasia craniocerebellocardiac dysplasia disease_ontology DOID:0060565 Ritscher-Schinzel syndrome 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 A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. MESH:C535327 MIM:236110 ORDO:2167 SNOMEDCT_US_2023_03_01:783159001 UMLS_CUI:C1856095 Holzgreve Wagner Rehder Syndrome Holzgreve syndrome disease_ontology DOID:0060566 Holzgreve-Wagner-Rehder Syndrome A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. url:https://www.ncbi.nlm.nih.gov/pubmed/3232694 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. GARD:8653 ICD10CM:L95.1 MESH:C535509 ORDO:90000 SNOMEDCT_US_2023_03_01:201300002 UMLS_CUI:C0263398 disease_ontology DOID:0060567 erythema elevatum diutinum 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 An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. GARD:8585 MESH:C535572 MIM:239850 Cantu syndrome disease_ontology DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type 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 A tuberculosis located in the heart. MESH:D014381 cardiovascular tuberculosis disease_ontology DOID:0060570 cardiac tuberculosis A tuberculosis located in the heart. url:https://pubmed.ncbi.nlm.nih.gov/28814447/ A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. MIM:220210 ORDO:7 disease_ontology DOID:0060571 Ritscher-Schinzel syndrome 1 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 A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11. MIM:300963 ORDO:7 disease_ontology DOID:0060572 Ritscher-Schinzel syndrome 2 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 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. ICD10CM:D68.01 MESH:D056725 MIM:193400 NCI:C131685 SNOMEDCT_US_2023_03_01:128106003 UMLS_CUI:C1264039 VWD type 1 VWD1 von Willebrand disease type 1 von Willebrand disease type I disease_ontology DOID:0060573 von Willebrand's disease 1 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 VWD1 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. ICD10CM:D68.02 MESH:D056728 MIM:613554 ORDO:166081 SNOMEDCT_US_2023_03_01:128107007 UMLS_CUI:C1264040 VWD type 2 VWD2 von Willebrand disease type 2 von Willebrand disease type II disease_ontology DOID:0060574 von Willebrand's disease 2 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 VWD2 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. MIM:257920 disease_ontology DOID:0060575 3MC syndrome 1 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 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. MIM:265050 disease_ontology DOID:0060576 3MC syndrome 2 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 A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24. MIM:248340 disease_ontology DOID:0060577 3MC syndrome 3 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 A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. DOID:0070101 ICD10CM:Q87.1 MIM:163950 NS1 disease_ontology DOID:0060578 Noonan syndrome 1 A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/18203203 NS1 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. DOID:0070102 ICD10CM:Q87.1 MESH:C548081 MIM:605275 NS2 disease_ontology DOID:0060580 Noonan syndrome 2 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 NS2 A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. DOID:0070103 ICD10CM:Q87.1 MESH:C537847 MIM:609942 NS3 disease_ontology DOID:0060581 Noonan syndrome 3 A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. url:https://www.ncbi.nlm.nih.gov/pubmed/16474405 NS3 A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. DOID:0070104 ICD10CM:Q87.1 MESH:C548082 MIM:610733 NS4 disease_ontology DOID:0060582 Noonan syndrome 4 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 NS4 A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. DOID:0070105 ICD10CM:Q87.1 MESH:C548083 MIM:611553 NS5 disease_ontology DOID:0060583 Noonan syndrome 5 A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/17603483 NS5 A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13. DOID:0070106 ICD10CM:Q87.1 MESH:C548084 MIM:613224 NS6 disease_ontology DOID:0060584 Noonan syndrome 6 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 NS6 A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene. DOID:0070107 ICD10CM:Q87.1 MIM:613706 NS7 disease_ontology DOID:0060585 Noonan syndrome 7 A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene. url:https://www.ncbi.nlm.nih.gov/pubmed/19206169 NS7 A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22. DOID:0070108 ICD10CM:Q87.1 MIM:615355 NS8 disease_ontology DOID:0060586 Noonan syndrome 8 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 NS8 A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21. DOID:0070109 ICD10CM:Q87.1 MIM:616559 NS9 disease_ontology DOID:0060587 Noonan syndrome 9 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 NS9 A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. DOID:0070110 ICD10CM:Q87.1 MIM:616564 NS10 disease_ontology DOID:0060588 Noonan syndrome 10 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 NS10 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. GARD:331 MESH:C536719 MIM:216340 UMLS_CUI:C1857663 cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome disease_ontology DOID:0060589 Yunis-Varon syndrome 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 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. GARD:10628 MESH:C567043 MIM:610965 XFEPS XPF-ERCC1 progeroid syndrome disease_ontology DOID:0060590 XFE progeroid syndrome 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 XFEPS 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. GARD:9297 MESH:C536697 MIM:193670 NCI:C176819 SNOMEDCT_US_2023_03_01:234571003 UMLS_CUI:C0472817 WHIMS warts, hypogammaglobulinemia, infections, and myelokathexis warts-hypogammaglobulinemia-infections-myelokathexis syndrome disease_ontology DOID:0060591 WHIM syndrome 1 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 WHIMS An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. NCI:C9143 B-cell adult acute lymphocytic leukaemia adult B acute lymphoblastic leukaemia adult B acute lymphoblastic leukemia adult B-lymphoblastic leukaemia adult B-lymphoblastic leukemia adult b-cell acute lymphoblastic leukaemia adult b-cell acute lymphoblastic leukemia adult b-cell lymphocytic leukaemia adult b-cell lymphocytic leukemia disease_ontology DOID:0060592 B-cell adult acute lymphocytic leukemia 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 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. DOID:8747 ICD10CM:C92.2 ICD9CM:205.2 ICDO:9876/3 MESH:D054438 NCI:C3519 ORDO:98824 SNOMEDCT_US_2023_03_01:128826001 UMLS_CUI:C1292772 aCML atypical CML atypical chronic myeloid leukaemia atypical chronic myeloid leukaemia BCR-ABL1 negative atypical chronic myeloid leukemia BCR-ABL1 negative subacute myeloid leukemia disease_ontology DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative 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 aCML 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. GARD:7161 MESH:C538336 MIM:302350 ORDO:627 SNOMEDCT_US_2023_03_01:445257004 UMLS_CUI:C0796085 disease_ontology DOID:0060599 Nance-Horan syndrome 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 disease_ontology DOID:0060600 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum true 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. ICD10CM:D68.8 MIM:262850 ORDO:79 antiplasmin defiency plasmin inhibitor deficiency disease_ontology DOID:0060601 alpha-2-plasmin inhibitor deficiency 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 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. MESH:C565768 MIM:614307 AMACR deficiency disease_ontology DOID:0060602 alpha-methylacyl-CoA racemase deficiency 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 An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11. MIM:106190 Dann-Epstein-Sohar syndrome disease_ontology DOID:0060603 isolated anhidrosis with normal sweat glands 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 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. ICD10CM:Q38.1 MESH:D000072676 MIM:106280 tongue-tie disease_ontology DOID:0060604 ankyloglossia MESH:D000072676 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 An eye disease that is characterized by impaired development of the anterior segment of the eye. disease_ontology DOID:0060605 obsolete anterior segment mesenchymal dysgenesis true A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. disease_ontology DOID:0060606 fetal nicotine spectrum disorder 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 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. GARD:5120 ICD10CM:Q87.1 MESH:C537577 MIM:210710 ORDO:2636 Taybi-Linder syndrome brachymelic primordial dwarfism cephaloskeletal dysplasia low-birth-weight dwarfism with skeletal dysplasia osteodysplastic primordial dwarfism type I disease_ontology DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I 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 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. ICD10CM:Q87.1 MESH:C565898 MIM:210720 ORDO:2637 Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II disease_ontology DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II 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 A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. MESH:C536138 MIM:155310 NCI:C98982 ORDO:2241 SNOMEDCT_US_2023_03_01:253781004 UMLS_CUI:C1608393 Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy disease_ontology DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome 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 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. GARD:9226 MESH:C535554 MIM:PS605552 disease_ontology DOID:0060611 abdominal obesity-metabolic syndrome 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/ An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. MIM:615812 disease_ontology DOID:0060612 abdominal obesity-metabolic syndrome 3 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 A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21. MIM:303400 ORDO:324601 X-linked cleft palate and ankyloglossia disease_ontology DOID:0060613 X-linked cleft palate with or without ankyloglossia 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 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. GARD:118 MESH:C536937 MIM:181450 ORDO:3138 SNOMEDCT_US_2023_03_01:700211007 UMLS_CUI:C1866994 Pallister ulnar-mammary syndrome Schinzel syndrome disease_ontology DOID:0060614 ulnar-mammary syndrome 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 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. MIM:610199 ORDO:79118 NDH syndrome disease_ontology DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism 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 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. GARD:10457 MIM:606176 PDMI PNDM permanent diabetes mellitus of infancy disease_ontology DOID:0060639 permanent neonatal diabetes mellitus 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 PDMI PNDM 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. GARD:2198 MESH:C535737 MIM:602473 ORDO:51188 SNOMEDCT_US_2023_03_01:723307008 UMLS_CUI:C1865349 disease_ontology DOID:0060640 ethylmalonic encephalopathy 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 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. ICD10CM:Q87.8 MIM:612651 ORDO:199332 ECO syndrome disease_ontology DOID:0060641 endocrine-cerebro-osteodysplasia syndrome 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 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. ICD10CM:Q81.2 MIM:226600 ORDO:79408 RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa disease_ontology DOID:0060642 recessive dystrophic epidermolysis bullosa 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 A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. GARD:1280 ICD10CM:K83.01 MESH:D015209 MIM:613806 NCI:C4828 ORDO:171 SNOMEDCT_US_2023_03_01:4032000 UMLS_CUI:C0566602 disease_ontology DOID:0060643 primary sclerosing cholangitis 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 A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. MESH:C536123 MIM:600092 ORDO:1422 SNOMEDCT_US_2023_03_01:720851007 UMLS_CUI:C1838654 Nivelon-Nivelon-Mabille syndrome chondrodysplasia-disorder of sex development syndrome disease_ontology DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome 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 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. ICD10CM:M86.3 MESH:C535456 MIM:259680 ORDO:324964 CRMO chronic multifocal osteomyelitis disease_ontology DOID:0060645 chronic recurrent multifocal osteomyelitis 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 CRMO 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. MIM:603523 ORDO:264688 disease_ontology DOID:0060646 congenital chylothorax 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 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. MIM:613630 ORDO:465824 cocoon syndrome disease_ontology DOID:0060647 fetal encasement syndrome 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 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. DOID:0060605 GARD:10025 ICD10CM:Q13.8 MIM:PS107250 ORDO:88632 anterior segment developmental anomaly corneal opacification and other ocular anomalies sclerocornea with other ocular anomalies disease_ontology DOID:0060648 anterior segment dysgenesis 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 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. MIM:217700 CHED disease_ontology DOID:0060649 congenital hereditary endothelial dystrophy of cornea 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 CHED An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids. GARD:1855 MESH:C536171 MIM:222730 ORDO:2195 SNOMEDCT_US_2023_03_01:716747007 UMLS_CUI:C1857253 glutamate-aspartate transport defect disease_ontology DOID:0060650 dicarboxylic aminoaciduria 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/ 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. ICD10CM:D69.4 MIM:155100 ORDO:182050 disease_ontology DOID:0060651 MYH-9 related disease 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 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. ICD10CM:D75.0 MIM:133100 ORDO:90042 ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia disease_ontology DOID:0060652 familial erythrocytosis 1 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 ECYT1 A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. MIM:611369 ORDO:137783 Israeli Bedouin type B multiple contracture syndrome disease_ontology DOID:0060653 lethal congenital contracture syndrome 3 MIM:611369 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 A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23. GARD:12645 MIM:614915 disease_ontology DOID:0060654 lethal congenital contracture syndrome 4 MIM:614915 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 An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. DOID:1699 ICD10CM:Q80.2 MESH:D017490 MIM:PS242300 NCI:C84805 ORDO:281097 SNOMEDCT_US_2023_03_01:12215009 UMLS_CUI:C0079154 ARCI lamellar ichthyosis non bullous congenital ichthyosiform erythroderma disease_ontology DOID:0060655 autosomal recessive congenital ichthyosis 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 ARCI 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. GARD:3170 ICD10CM:Q80.2 MIM:242300 ORDO:100976 ORDO:281122 ORDO:313 ARCI1 bathing suit ichthyosis disease_ontology DOID:0060656 autosomal recessive congenital ichthyosis 1 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 ARCI1 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. GARD:5808 ICD10CM:Q00.0 MESH:D000757 MIM:206500 ORDO:1048 disease_ontology DOID:0060668 anencephaly MESH:D000757 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 A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support. MIM:PS116860 cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma disease_ontology DOID:0060669 cerebral cavernous malformation MIM:PS116860 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 A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13. ICD10CM:Q28.3 MIM:603284 ORDO:221061 disease_ontology DOID:0060670 cerebral cavernous malformation 2 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 A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1. ICD10CM:Q28.3 MIM:603285 ORDO:221061 disease_ontology DOID:0060671 cerebral cavernous malformation 3 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 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. ICD10CM:G31.0 MIM:607485 disease_ontology DOID:0060672 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 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 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. GARD:7377 ICD10CM:Q13.4 MESH:C537884 MIM:604229 ORDO:708 disease_ontology DOID:0060673 Peters anomaly 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 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. ICD10CM:I47.2 MIM:PS604772 ORDO:3286 disease_ontology DOID:0060674 catecholaminergic polymorphic ventricular tachycardia 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 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. DOID:0110071 ICD10CM:I42.8 ICD10CM:I47.2 MIM:604772 CVPT1 arrhythmogenic right ventricular dysplasia 2 disease_ontology DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 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 CVPT1 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. ICD10CM:I47.2 MIM:611938 CVPT2 disease_ontology DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 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 CVPT2 A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14. ICD10CM:I47.2 MIM:614021 CVPT3 disease_ontology DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 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 CVPT3 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. ICD10CM:I47.2 MIM:614916 CVPT4 disease_ontology DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 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 CVPT4 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. ICD10CM:I47.2 MIM:615441 CVPT5 disease_ontology DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 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 CVPT5 An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma. MESH:C563184 MIM:600510 glaucoma-related pigment dispersion syndrome pigment-dispersion type glaucoma disease_ontology DOID:0060680 pigment dispersion syndrome 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 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. GARD:11918 MESH:C579932 MIM:PS600513 ORDO:98784 ENFL disease_ontology DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy 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 ENFL An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. MIM:600513 ENFL1 nocturnal frontal lobe epilepsy 1 disease_ontology DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 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 ENFL1 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. MIM:603204 ENFL2 nocturnal frontal lobe epilepsy 2 disease_ontology DOID:0060683 autosomal dominant nocturnal frontal lobe epilepsy 2 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 ENFL2 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. MIM:605375 ENFL3 nocturnal frontal lobe epilepsy 3 disease_ontology DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 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 ENFL3 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. MIM:610353 ENFL4 nocturnal frontal lobe epilepsy 4 disease_ontology DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 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 ENFL4 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. MIM:615005 ENFL5 nocturnal frontal lobe epilepsy 5 disease_ontology DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 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 ENFL5 A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. ICD10CM:Q28.2 MESH:D002538 MIM:108010 ORDO:46724 UMLS_CUI:C0007772 cerebral arteriovenous malformation intracranial arteriovenous malformation disease_ontology DOID:0060688 arteriovenous malformations of the brain 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 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. ICD10CM:L65.8 MESH:C565924 MIM:209500 ORDO:86819 papular atrichia disease_ontology DOID:0060689 atrichia with papular lesions 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 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. ICD10CM:H90.3 MIM:609129 AUNA1 NSDAN nonsyndromic dominant auditory neuropathy disease_ontology DOID:0060690 autosomal dominant auditory neuropathy 1 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 AUNA1 NSDAN 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. ICD10CM:D69.4 MIM:187800 ORDO:140957 autosomal dominant Glanzmann thrombasthenia autosomal dominant thrombasthenia of Glanzmann and Naegeli disease_ontology DOID:0060691 platelet-type bleeding disorder 16 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 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. ICD10CM:D69.8 MIM:609821 ORDO:36355 ADP platelet receptor P2Y12 defect P2Y12 defect disease_ontology DOID:0060692 platelet-type bleeding disorder 8 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 An amino acid metabolic disorder characterized by recessive X-linked inheritance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. ICD10CM:E70.8 MESH:C563156 MIM:300615 ORDO:3057 monoamine oxidase A deficiency disease_ontology DOID:0060693 Brunner Syndrome An amino acid metabolic disorder characterized by recessive X-linked inheritance, 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 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. ICD10CM:G11.0 MESH:C563363 MIM:601238 ORDO:94122 Cayman cerebellar ataxia disease_ontology DOID:0060694 Cayman type cerebellar ataxia 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 A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. GARD:3129 ICD10CM:G25.8 MESH:D000071017 MIM:PS149400 ORDO:3197 Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease disease_ontology DOID:0060695 hyperekplexia GARD:3129 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 A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. ICD10CM:G25.8 MESH:D000071017 MIM:149400 ORDO:3197 HKPX1 disease_ontology DOID:0060696 hyperekplexia 1 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 HKPX1 A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. ICD10CM:G25.8 MIM:614619 ORDO:3197 HKPX2 disease_ontology DOID:0060697 hyperekplexia 2 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 HKPX2 A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. ICD10CM:G25.8 MIM:614618 ORDO:3197 HKPX3 disease_ontology DOID:0060698 hyperekplexia 3 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 HKPX3 A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. GARD:10828 ICD10CM:E83.5 MIM:PS145980 ORDO:405 FBH FBHH FHH familial benign hypercalcemia familial benign hypocalciuric hypercalcemia disease_ontology DOID:0060699 familial hypocalciuric hypercalcemia 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 FBH FBHH FHH A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. ICD10CM:E83.5 MIM:145980 ORDO:93372 FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I disease_ontology DOID:0060700 familial hypocalciuric hypercalcemia 1 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 HHC1 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. GARD:9758 ICD10CM:E83.5 MIM:145981 ORDO:101049 FHH type 2 HHC2 familial hypocalciuric hypercalcemia type 2 hypocalciuric hypercalcemia type II disease_ontology DOID:0060701 familial hypocalciuric hypercalcemia 2 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 HHC2 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. GARD:2878 ICD10CM:E83.5 MIM:600740 ORDO:101050 FHH type 3 HHC3 familial hypocalciuric hypercalcemia type 3 hypocalciuric hypercalcemia type III disease_ontology DOID:0060702 familial hypocalciuric hypercalcemia 3 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 HHC3 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. GARD:7097 MESH:C537369 MIM:602849 NCI:C84904 ORDO:53271 SNOMEDCT_US_2023_03_01:440350001 UMLS_CUI:C1864436 FGFR3-related craniosynostosis disease_ontology DOID:0060703 Muenke Syndrome 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 A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. MIM:PS308240 ORDO:538963 Combined immunodeficiency due to ITK deficiency disease_ontology DOID:0060704 lymphoproliferative syndrome 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 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. GARD:7906 ICD10CM:D82.3 MIM:308240 XLP1 disease_ontology DOID:0060705 X-linked lymphoproliferative syndrome 1 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 XLP1 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. GARD:10916 ICD10CM:D82.3 MIM:300635 XIAP deficiency XLP2 disease_ontology DOID:0060706 X-linked lymphoproliferative syndrome 2 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 XLP2 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. ICD10CM:D47.9 MIM:613011 LPFS1 disease_ontology DOID:0060707 lymphoproliferative syndrome 1 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 LPFS1 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. ICD10CM:D47.9 MIM:615122 CD27 deficiency LPFS2 disease_ontology DOID:0060708 lymphoproliferative syndrome 2 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 LPFS2 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. ICD10CM:Q80.2 MIM:242100 ARCI2 BROCQ congenital ichthyosiform erythroderma nonbullous form NCIE1 nonbullous congenital ichthyosiform erythroderma 1 disease_ontology DOID:0060710 autosomal recessive congenital ichthyosis 2 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 ARCI2 NCIE1 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. ICD10CM:Q80.2 MIM:606545 ARCI3 lamellar ichthyosis 5 disease_ontology DOID:0060711 autosomal recessive congenital ichthyosis 3 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 ARCI3 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. ICD10CM:Q80.2 MIM:601277 ARCI4A ICR2B ichthyosis congenita IIB lamellar ichthyosis 2 disease_ontology DOID:0060712 autosomal recessive congenital ichthyosis 4A 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 ARCI4A ICR2B 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. ICD10CM:Q80.4 MIM:242500 ORDO:457 ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis disease_ontology DOID:0060713 autosomal recessive congenital ichthyosis 4B 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 ARCI4B 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. ICD10CM:Q80.2 MIM:604777 ARCI5 autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis disease_ontology DOID:0060714 autosomal recessive congenital ichthyosis 5 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 ARCI5 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. ICD10CM:Q80.2 MIM:612281 ARCI6 disease_ontology DOID:0060715 autosomal recessive congenital ichthyosis 6 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 ARCI6 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. ICD10CM:Q80.2 MIM:615022 ARCI7 disease_ontology DOID:0060716 autosomal recessive congenital ichthyosis 7 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 ARCI7 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. ICD10CM:Q80.2 MIM:613943 ARCI8 lamellar ichthyosis 4 late-onset lamellar ichthyosis disease_ontology DOID:0060717 autosomal recessive congenital ichthyosis 8 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 ARCI8 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. ICD10CM:Q80.2 MIM:615023 ARCI9 disease_ontology DOID:0060718 autosomal recessive congenital ichthyosis 9 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 ARCI9 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. ICD10CM:Q80.2 MIM:615024 ARCI10 disease_ontology DOID:0060719 autosomal recessive congenital ichthyosis 10 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 ARCI10 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. ICD10CM:Q80.8 MIM:602400 IFAH syndrome IHS autosomal recessive ichthyosis with hypotrichosis hypotrichosis-congenital ichthyosis syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome disease_ontology DOID:0060720 autosomal recessive congenital ichthyosis 11 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 IHS 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. ICD10CM:E77.8 MESH:C000626124 MIM:615273 ORDO:404454 NGLY1-CDDG NGLY1-deficiency congenital disorder of glycosylation type Iv deficiency of N-glycanase 1 disease_ontology DOID:0060728 congenital disorder of deglycosylation 1 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 NGLY1-CDDG 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. ICD10CM:G24.1 MIM:128100 ORDO:256 dystonia musculorum deformans disease_ontology DOID:0060730 torsion dystonia 1 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 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. GARD:8535 ICD10CM:G47.3 MESH:C536209 MIM:209880 ORDO:661 CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome disease_ontology DOID:0060731 congenital central hypoventilation syndrome 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 CCHS 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. ICD10CM:Q93.5 MESH:C538024 MIM:158170 ORDO:261112 9p syndrome Alfi syndrome monosomy 9p syndrome disease_ontology DOID:0060732 chromosome 9p deletion syndrome 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 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. ICD10CM:Q81.8 MIM:226730 ORDO:79403 Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome disease_ontology DOID:0060733 junctional epidermolysis bullosa with pyloric atresia 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 JEB-PA 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. ICD10CM:Q81.0 MIM:131760 ORDO:79396 EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex disease_ontology DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type 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 EBSDM 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. ICD10CM:Q81.0 MIM:131950 ORDO:79401 EBS-O EBS-Og EBSOG disease_ontology DOID:0060736 epidermolysis bullosa simplex Ogna type 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 EBS-O EBS-Og EBSOG 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. ICD10CM:Q81.1 MIM:226700 ORDO:79404 Herlitz type epidermolysis bullosa junctionalis Herlitz-Pearson-type epidermolysis bullosa JEB-H JEB-Herlitz type epidermolysis bullosa letalis junctional epidermolysis bullosa generalisata gravis junctional epidermolysis bullosa, Herlitz-Pearson type disease_ontology DOID:0060737 junctional epidermolysis bullosa Herlitz type 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 JEB-H 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. ICD10CM:Q81.8 MIM:226650 ORDO:79402 ORDO:89840 GABEB JEB-nH gen JEN-nH generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type disease_ontology DOID:0060738 junctional epidermolysis bullosa non-Herlitz type 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 GABEB JEB-nH gen JEN-nH 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. GARD:2594 ICD10CM:Q51.2 MIM:140000 ORDO:2438 HFGS hand-foot-uterus syndrome disease_ontology DOID:0060739 hand-foot-genital syndrome 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 HFGS 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. ICD10CM:E71.1 MESH:C565390 MIM:251000 ORDO:27 methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria disease_ontology DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 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 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. ICD10CM:E71.1 MIM:613646 ORDO:280183 methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect disease_ontology DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect 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 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. ICD10CM:E71.1 MIM:251100 ORDO:79310 methylmalonic aciduria cblA type methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type disease_ontology DOID:0060742 methylmalonic acidemia cblA type 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 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. ICD10CM:E71.1 MIM:251110 ORDO:79311 methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type disease_ontology DOID:0060743 methylmalonic acidemia cblB type 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 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. GARD:4271 ICD10CM:E07.1 MESH:C536648 MIM:274600 NCI:C121745 ORDO:705 SNOMEDCT_US_2023_03_01:70348004 UMLS_CUI:C0271829 TDH2B congenital hypothyroidism due to dyshormonogenesis 2B deafness with goiter genetic defect in thyroid hormonogenesis 2B goiter-deafness syndrome thyroid dyshormonogenesis 2B disease_ontology DOID:0060744 Pendred Syndrome 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 TDH2B 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. GARD:1912 ICD10CM:H35.5 MESH:C535602 MIM:126600 ORDO:75376 DHRD Doyne honeycomb degeneration of retina disease_ontology DOID:0060745 Doyne honeycomb retinal dystrophy 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 DHRD 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. ICD10CM:H35.5 MESH:C563034 MIM:126700 ORDO:75376 cuticular drusen drusen of bruch membrane early adult-onset grouped drusen disease_ontology DOID:0060746 basal laminar drusen 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 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. GARD:9182 ICD10CM:Q87.8 MIM:607323 ORDO:93293 DR syndrome Duane anomaly with radial ray abnormalities and deafness Okihiro syndrome acrorenocular syndrome disease_ontology DOID:0060747 Duane-radial ray syndrome 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 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. MIM:600512 ORDO:101046 ETL1 partial epilepsy with auditory features disease_ontology DOID:0060748 familial temporal lobe epilepsy 1 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 ETL1 A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26. MIM:615697 ORDO:163717 ETL6 disease_ontology DOID:0060749 familial temporal lobe epilepsy 6 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 ETL6 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. MIM:611630 ORDO:163717 FMTLE familial mesial temporal lobe epilepsy disease_ontology DOID:0060750 familial temporal lobe epilepsy 3 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 FMTLE 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. MIM:616436 ORDO:101046 ETL7 disease_ontology DOID:0060751 familial temporal lobe epilepsy 7 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 ETL7 A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. MIM:614417 ORDO:163717 ETL5 disease_ontology DOID:0060752 familial temporal lobe epilepsy 5 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 ETL5 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. MIM:611631 ORDO:98819 EPOLM ETL4 occipitotemporal lobe epilepsy and migraine with aura disease_ontology DOID:0060753 familial temporal lobe epilepsy 4 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 EPOLM ETL4 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. MIM:616461 ORDO:101046 ETL8 disease_ontology DOID:0060754 familial temporal lobe epilepsy 8 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 ETL8 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. MIM:608096 ORDO:98819 ETL2 disease_ontology DOID:0060755 familial temporal lobe epilepsy 2 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 ETL2 A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21. ICD10CM:M85.2 MIM:269500 ORDO:3152 SOST1 disease_ontology DOID:0060756 sclerosteosis 1 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 SOST1 A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11. ICD10CM:M85.2 MIM:614305 ORDO:3152 SOST2 disease_ontology DOID:0060757 sclerosteosis 2 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 SOST2 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. GARD:10578 MIM:605258 NCI:C129074 ORDO:101089 UMLS_CUI:C1720956 AID deficiency HIGM2 activation-induced cytidine deaminase deficiency hyper-IgM syndrome type 2 disease_ontology DOID:0060758 immunodeficiency with hyper-IgM type 2 ORDO:183666 GARD:10578 MIM:605258 NCI:C129074 ORDO:101089 UMLS_CUI:C1720956 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 HIGM2 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. GARD:10581 MIM:608106 ORDO:101092 UMLS_CUI:C1720958 HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase disease_ontology DOID:0060759 immunodeficiency with hyper IgM type 5 ORDO:183666 GARD:10581 MIM:608106 ORDO:101092 UMLS_CUI:C1720958 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 HIGM5 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. GARD:10580 MESH:C564277 MIM:608184 NCI:C564277 ORDO:101091 UMLS_CUI:C1842413 HIGM4 hyper-IgM syndrome type 4 disease_ontology DOID:0060760 immunodeficiency with hyper-IgM type 4 ORDO:183666 GARD:10580 MESH:C564277 MIM:608184 NCI:C564277 ORDO:101091 UMLS_CUI:C1842413 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 HIGM4 A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). MIM:600080 familial CML-like syndrome disease_ontology DOID:0060761 familial chronic myelocytic leukemia-like syndrome 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 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. GARD:1516 MESH:C536920 MIM:PS275210 ORDO:1662 SNOMEDCT_US_2023_03_01:400128006 UMLS_CUI:C0406585 Infantile restrictive dermopathy Lethal tight skin contracture syndrome hyperkeratosis-contracture syndrome lethal restrictive dermopathy tight skin contracture syndrome disease_ontology DOID:0060762 restrictive dermopathy GARD:1516 MESH:C536920 MIM:PS275210 ORDO:1662 SNOMEDCT_US_2023_02_28:400128006 UMLS_CUI:C0406585 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 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. ICD10CM:Q14.1 MIM:312700 ORDO:792 X-linked juvenile retinoschisis X-linked retinoschisis XLRS disease_ontology DOID:0060763 X-linked juvenile retinoschisis 1 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 XLRS 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. MIM:268310 ORDO:1507 COVESDEM syndrome RRS costovertebral segmentation defect-mesomelia syndrome disease_ontology DOID:0060764 autosomal recessive Robinow syndrome 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 RRS 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. MIM:616331 ORDO:3107 DRS2 disease_ontology DOID:0060765 autosomal dominant Robinow syndrome 2 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 DRS2 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. MIM:180700 ORDO:3107 DRS1 disease_ontology DOID:0060766 autosomal dominant Robinow syndrome 1 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 DRS1 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. MIM:616894 ORDO:3107 ORDO:97360 DRS3 disease_ontology DOID:0060767 autosomal dominant Robinow syndrome 3 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 DRS3 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. GARD:8197 ICD10CM:Q93.5 MESH:D058496 MIM:182290 ORDO:819 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome disease_ontology DOID:0060768 Smith-Magenis syndrome 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 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. ICD10CM:D82.8 MESH:C536781 MIM:601705 ORDO:169095 alymphoid cystic thymic dysgenesis severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome winged helix deficiency disease_ontology DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy 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 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. DOID:0060771 ICD10CM:Q20.3 MIM:608808 ORDO:860 D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance disease_ontology DOID:0060770 dextro-looped transposition of the great arteries 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 D-TGA DTGA1 A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous missense mutation in the MED13L gene on chromosome 12q24. disease_ontology DOID:0060771 obsolete dextro-looped transposition of the great arteries 1 true 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 A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. ICD10CM:Q20.3 MIM:613854 DTGA3 dextro-looped transposition of the great arteries 3 disease_ontology DOID:0060772 multiple types of congenital heart defects 6 A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/17924340 DTGA3 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. GARD:375 MIM:225060 ORDO:3253 CLPED1 Margarita type of ectodermal dysplasia Zlotogora-Zilberman-Tenenbaum syndrome cleft lip/palate-syndactyly-pili torti syndrome syndactyly-ectodermal dysplasia-cleft/lip palate disease_ontology DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome 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 CLPED1 A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth. MIM:PS214700 disease_ontology DOID:0060774 congenital diarrhea 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 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. GARD:7039 ICD10CM:P78.3 MESH:C537470 MIM:251850 ORDO:2290 Davidson disease MVD congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillus atrophy diarrhea 2 with microvillus atrophy intractable diarrhea of infancy disease_ontology DOID:0060775 microvillus inclusion disease 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 MVD 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. ICD10CM:P78.3 MIM:613217 ORDO:92050 DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy disease_ontology DOID:0060776 congenital diarrhea 5 with tufting enteropathy 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 DIAR5 A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. ICD10CM:P78.3 MIM:616868 ORDO:103908 DIAR8 disease_ontology DOID:0060777 congenital secretory sodium diarrhea 8 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 DIAR8 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. ICD10CM:P78.3 MIM:615863 ORDO:329242 congenital chronic diarrhea with exudative enteropathy congenital chronic diarrhea with protein-losing enteropathy congenital chronic diarrhoea with exudative enteropathy congenital chronic diarrhoea with protein-losing enteropathy congenital diarrhoea 7 with exudative enteropathy disease_ontology DOID:0060778 congenital diarrhea 7 with exudative enteropathy 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 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. ICD10CM:P78.3 MIM:610370 ORDO:83620 congenital malabsorptive diarrhea due to paucity of enteroendocrine cells congenital malabsorptive diarrhoea 4 congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells enteric anendocrinosis disease_ontology DOID:0060779 congenital malabsorptive diarrhea 4 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 A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12. ICD10CM:P78.3 MIM:614616 ORDO:314373 chronic diarrhea due to guanylate cyclase 2C overactivity chronic diarrhoea due to guanylate cyclase 2C overactivity congenital diarrhoea 6 disease_ontology DOID:0060780 congenital diarrhea 6 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 A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13. ICD10CM:P78.3 MIM:270420 ORDO:103908 congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies congenital secretory sodium diarrhoea 3 congenital secretory sodium diarrhoea 3 syndromic congenital secretory sodium diarrhoea 3 with or without other congenital anomalies disease_ontology DOID:0060781 congenital secretory sodium diarrhea 3 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 A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). MESH:C536189 NCI:C148261 ORDO:1896 SNOMEDCT_US_2023_03_01:39788007 UMLS_CUI:C0406704 Rudiger syndrome 1 Walker-Clodius syndrome ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome ectrodactyly-ectodermal dysplasia-clefting syndrome disease_ontology DOID:0060782 EEC syndrome MESH:C536189 A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). url:https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome 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. MESH:C536189 MIM:604292 NCI:C148261 ORDO:1896 SNOMEDCT_US_2023_03_01:39788007 UMLS_CUI:C0406704 EEC syndrome 3 EEC3 disease_ontology DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 EEC3 An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3. MESH:C536189 MIM:129900 NCI:C148261 ORDO:1896 SNOMEDCT_US_2023_03_01:39788007 UMLS_CUI:C0406704 EEC syndrome 1 EEC1 disease_ontology DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 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 EEC1 An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes. GARD:10587 MIM:169500 SNOMEDCT_US_2023_03_01:448054001 UMLS_CUI:C3164344 ADLD adult-onset autosomal dominant leukodystrophy autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease disease_ontology DOID:0060785 typical adult-onset autosomal dominant demyelinating leukodystrophy An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes. url:https://www.ncbi.nlm.nih.gov/books/NBK338165/ url:https://www.ncbi.nlm.nih.gov/pubmed/16951681 url:https://www.ncbi.nlm.nih.gov/pubmed/19151023 ADLD 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. MIM:PS312080 HLD disease_ontology DOID:0060786 hypomyelinating leukodystrophy 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/ HLD 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. ICD10CM:E75.2 MIM:608804 ORDO:280282 HLD2 PMLD1 Pelizaeus-Merzbacher-like disease 1 Pelizaeus-Merzbacher-like disease due to GJC2 mutation disease_ontology DOID:0060787 hypomyelinating leukodystrophy 2 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 HLD2 PMLD1 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. MIM:616420 HLD10 disease_ontology DOID:0060788 hypomyelinating leukodystrophy 10 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 HLD10 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. ICD10CM:E75.2 MIM:612233 ORDO:280288 HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy disease_ontology DOID:0060789 hypomyelinating leukodystrophy 4 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 HLD4 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. ICD10CM:E75.2 MIM:260600 ORDO:280293 HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation disease_ontology DOID:0060790 hypomyelinating leukodystrophy 3 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 HLD3 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. ICD10CM:E75.2 MIM:616140 ORDO:438114 HLD9 RARS-related autosomal recessive hypomyelinating leukodystrophy disease_ontology DOID:0060791 hypomyelinating leukodystrophy 9 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 HLD9 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. ICD10CM:G11.1 MIM:616494 HLD11 disease_ontology DOID:0060792 hypomyelinating leukodystrophy 11 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 HLD11 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. ICD10CM:G37.8 MIM:610532 ORDO:85163 HLD5 hypomyelination-congenital cataract syndrome disease_ontology DOID:0060793 hypomyelinating leukodystrophy 5 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 HLD5 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. ICD10CM:G11.1 MIM:607694 ORDO:137639 ORDO:447893 ORDO:447896 ORDO:77295 HLD7 TACH syndrome ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy dentoleukoencephalopathy hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome leukodystrophy with oligodontia leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome tremor-ataxia-central hypomyelination syndrome disease_ontology DOID:0060794 hypomyelinating leukodystrophy 7 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 HLD7 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. MIM:616881 HLD13 disease_ontology DOID:0060795 hypomyelinating leukodystrophy 13 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 HLD13 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. MIM:616683 HLD12 disease_ontology DOID:0060796 hypomyelinating leukodystrophy 12 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 HLD12 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. ICD10CM:G11.1 MIM:614381 HLD8 disease_ontology DOID:0060797 hypomyelinating leukodystrophy 8 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 HLD8 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. ICD10CM:E75.2 MIM:612438 ORDO:139441 H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum disease_ontology DOID:0060798 hypomyelinating leukodystrophy 6 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 H-ABC HABC HLD6 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. DOID:0080713 GARD:9781 MESH:C537723 MIM:300260 NCI:C126747 ORDO:85281 SNOMEDCT_US_2023_03_01:702816000 UMLS_CUI:C1846058 Lubs X-linked mental retardation syndrome MECP2 duplication syndrome MRXSL X-linked intellectual disability-hypotonia-recurrent Infections syndrome mental retardation, X-linked, syndromic, Lubs type mental retardation, X-linked, with recurrent respiratory infections disease_ontology DOID:0060799 syndromic X-linked intellectual disability Lubs type 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 MRXSL 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. MESH:C535773 MIM:304340 NCI:C124839 ORDO:1568 ORDO:85335 SNOMEDCT_US_2023_03_01:719139003 UMLS_CUI:C0796254 Fried syndrome MRX59 MRXS21 Mental retardation, X-linked syndromic 5 Pettigrew syndrome X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome X-linked mental retardation 59 X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures syndromic X-linked mental retardation 21 syndromic X-linked mental retardation Fried type disease_ontology DOID:0060800 syndromic X-linked intellectual disability 5 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 MRX59 MRXS21 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. MESH:C537451 MIM:300148 ORDO:85282 SNOMEDCT_US_2023_03_01:722037004 UMLS_CUI:C1846278 MRXS20 MRXS25 X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity syndromic X-linked mental retardation 20 syndromic X-linked mental retardation 25 disease_ontology DOID:0060801 MEHMO syndrome 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 MRXS20 MRXS25 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. GARD:5615 ICD10CM:Q87.8 MIM:309583 ORDO:3063 SRS Snyder-Robinson mental retardation syndrome Snyder-Robinson syndrome mental retardation, X-linked, Snyder-Robinson type spermine synthase deficiency disease_ontology DOID:0060802 syndromic X-linked intellectual disability Snyder type 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 SRS 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. MIM:300858 ORDO:289483 X-linked mental retardation with alacrima and achalasia intellectual disability-alacrima-achalasia syndrome mental retardation, X-linked, syndromic 17 disease_ontology DOID:0060803 syndromic X-linked intellectual disability 17 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 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. ICD10CM:Q87.8 MIM:309545 ORDO:85290 X-linked intellectual disability, Wilson type mental retardation, X-linked, syndromic 12 disease_ontology DOID:0060804 syndromic X-linked intellectual disability 12 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 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. MIM:309610 ORDO:2958 Prieto-Badia-Mulas syndrome X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome disease_ontology DOID:0060805 Prieto syndrome 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 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. MIM:300423 ORDO:93952 MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type disease_ontology DOID:0060806 syndromic X-linked intellectual disability Hedera type 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 MRXE MRXSH 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. GARD:12669 ICD10CM:Q04.3 MIM:300749 ORDO:163937 MICPCH X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome mental retardation and microcephaly with pontine and cerebellar hypoplasia disease_ontology DOID:0060807 syndromic X-linked intellectual disability Najm type 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 MICPCH 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. GARD:9156 MESH:C537449 MIM:300218 ORDO:85274 SNOMEDCT_US_2023_03_01:719160009 UMLS_CUI:C1846170 MRXS7 X-linked intellectual disability, Ahmad type mental retardation, X-linked syndromic 7 disease_ontology DOID:0060808 syndromic X-linked intellectual disability 7 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 MRXS7 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. ICD10CM:Q87.8 MIM:300534 ORDO:85279 MRXSCJ MRXSJ mental retardation, X-linked, syndromic, Claes-Jensen type syndromic X-linked intellectual disability due to JARID1C mutation syndromic X-linked mental retardation JARID1C-related disease_ontology DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type 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 MRXSCJ MRXSJ 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. ICD10CM:G25.5 MIM:300438 ORDO:85295 HSD10 deficiency, atypical type HSD10 disease, atypical type MRXS10 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome mental retardation, X-linked syndromic 10 disease_ontology DOID:0060810 syndromic X-linked intellectual disability type 10 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 MRXS10 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. DOID:0060829 ICD10CM:Q87.8 MIM:309590 ORDO:3056 ORDO:85328 Brooks-Wisniewski-Brown syndrome MRXST X-linked intellectual disability, Brooks type mental retardation and macrocephaly syndrome mental retardation, X-linked syndromic, Turner type disease_ontology DOID:0060811 syndromic X-linked intellectual disability Turner type 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 MRXST 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. MESH:C537333 MIM:300263 ORDO:85287 UMLS_CUI:C1846055 MRXSSD Siderius X-linked mental retardation syndrome Siderius-Hamel syndrome mental retardation syndrome, X-linked, Siderius type disease_ontology DOID:0060812 syndromic X-linked intellectual disability Siderius type 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 MRXSSD 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. ICD10CM:Q87.8 MIM:300709 ORDO:85324 MRXS9 mental retardation, X-linked, syndromic 9 disease_ontology DOID:0060813 syndromic X-linked intellectual disability Shrimpton type 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 MRXS9 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. GARD:5579 MIM:309585 ORDO:3459 MRXS6 WTS X-linked intellectual disability-gynecomastia-obesity syndrome mental retardation, X-linked, syndromic 6 mental retardation, X-linked, with gynecomastia and obesity disease_ontology DOID:0060814 Wilson-Turner syndrome 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 MRXS6 WTS 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. MIM:314580 ORDO:85283 UMLS_CUI:C1839735 MCS MRXS4 Miles-Carpenter syndrome WRWF X-linked intellectual disability, Miles-Carpenter type mental retardation, X-linked, syndromic 4 mental retardation, X-linked, with congenital contractures and low fingertip arches disease_ontology DOID:0060815 Wieacker-Wolff syndrome MIM:PS314580 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 MCS MRXS4 WRWF 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. ICD10CM:Q87.8 MIM:300472 ORDO:52055 Graham-Cox syndrome MRXS28 corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia mental retardation, X-linked, syndromic 28 disease_ontology DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 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 MRXS28 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. MIM:300967 ORDO:466791 MRXS34 MRXSML macrocephaly-intellectual disability-left ventricular non compaction syndrome mental retardation, X-linked, syndromic 34 syndromic X-linked mental retardation Mircsof-Langouet type disease_ontology DOID:0060817 syndromic X-linked intellectual disability 34 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 MRXS34 MRXSML 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. MESH:C535556 MIM:300262 ORDO:85273 UMLS_CUI:C1846056 MRXSAB mental retardation, X-linked syndromic, Abidi type syndromic X-linked mental retardation Abidi type disease_ontology DOID:0060818 syndromic X-linked intellectual disability Abidi type 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 MRXSAB 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. MIM:300861 MRXSCS X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance mental retardation, X-linked, syndromic, Chudley-Schwartz type disease_ontology DOID:0060819 syndromic X-linked intellectual disability Chudley-Schwartz type 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 MRXSCS 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. ICD10CM:Q87.8 MIM:300860 ORDO:163956 X-linked intellectual disability-nail dystrophy-seizures syndrome mental retardation, X-linked syndromic, Nascimento-type disease_ontology DOID:0060820 syndromic X-linked intellectual disability Nascimento type 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 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. MESH:C537724 MIM:300676 ORDO:323 ORDO:776 SNOMEDCT_US_2023_03_01:422437002 UMLS_CUI:C0796022 mental retardation, X-linked, syndromic 14 disease_ontology DOID:0060821 syndromic X-linked intellectual disability 14 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 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. GARD:13244 ICD10CM:Q87.8 MIM:300354 ORDO:85293 Cabezas syndrome; syndromic X-linked mental retardation 15 MRSS MRXS15 MRXSC X-linked mental retardation with short stature X-linked mental retardation with short stature, hypogonadism, and abnormal gait mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 (Cabezas type) disease_ontology DOID:0060822 syndromic X-linked intellectual disability Cabezas type 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 MRSS MRXS15 MRXSC 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. ICD10CM:F72 MIM:300699 ORDO:364028 MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type disease_ontology DOID:0060823 syndromic X-linked intellectual disability 94 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 MRX94 MRXS29 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. ICD10CM:Q87.8 MIM:300799 ORDO:163953 MRXSR X-linked syndromic intellectual developmental disorder Raymond type mental retardation, X-linked syndromic, Raymond type disease_ontology DOID:0060824 syndromic X-linked intellectual disability Raymond type 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 MRXSR 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. GARD:10572 MESH:C537450 MIM:300243 ORDO:85278 UMLS_CUI:C1846130 MRXSCH X-linked Angelman-like syndrome X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome mental retardation, X-linked syndromic, Christianson type mental retardation, microcephaly, epilepsy, and ataxia syndrome disease_ontology DOID:0060825 Christianson syndrome MESH:C567484 MESH:C537450 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 MRXSCH 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. ICD10CM:Q87.8 MIM:300238 ORDO:85286 MRXS11 SMRXS Shashi X-linked mental retardation syndrome X-linked mental retardation Shashi type mental retardation, X-linked, syndromic 11, Shashi type syndromic X-linked intellectual disability type 11 disease_ontology DOID:0060826 syndromic X-linked intellectual disability Shashi type 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 MRXS11 SMRXS 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. ICD10CM:F71.1 MIM:300055 ORDO:3077 Lindsay-Burn syndrome MRXS13 PPM-X X-linked mental retardation 79 X-linked mental retardation with spasticity mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13 disease_ontology DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome 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 MRXS13 PPM-X 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. MIM:300886 ORDO:324410 MRXS32 mental retardation, X-linked, syndromic 32 disease_ontology DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 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 MRXS32 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. disease_ontology DOID:0060829 obsolete Brooks-Wisniewski-Brown syndrome true 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 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. ICD10CM:Q87.8 MIM:300519 ORDO:85321 Martin-Probst syndrome mental retardation, X-linked, syndromic, Martin-Probst type disease_ontology DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome 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 An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. GARD:10913 ICD10CM:E70.3 MIM:PS214450 ORDO:381 Chediak-Higashi-like syndrome Griscelli-Prunieras syndrome partial albinism-immunodeficiency syndrome disease_ontology DOID:0060831 Griscelli syndrome 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 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. GARD:2566 MESH:C537301 MIM:214450 ORDO:79476 SNOMEDCT_US_2023_03_01:1254946006 UMLS_CUI:C1859194 GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome disease_ontology DOID:0060832 Griscelli syndrome type 1 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 GS1 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. GARD:4483 MESH:C537302 MIM:607624 NCI:C111814 ORDO:79477 UMLS_CUI:C1868679 GS2 Griscelli syndrome with hemophagocytic syndrome Griscelli-Prunieras syndrome type 2 PAID syndrome hypopigmentation-immunodeficiency with or without neurologic impairment syndrome partial albinism and immunodeficiency syndrome disease_ontology DOID:0060833 Griscelli syndrome type 2 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 GS2 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. GARD:9715 MESH:C537303 MIM:609227 ORDO:79478 SNOMEDCT_US_2023_03_01:1254947002 UMLS_CUI:C1836573 GS3 Griscelli-Prunieras syndrome type 3 disease_ontology DOID:0060834 Griscelli syndrome type 3 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 GS3 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. ICD10CM:Q11.0 MIM:613517 ORDO:2542 MCOP6 posterior nonsyndromic microphthalmia disease_ontology DOID:0060835 isolated microphthalmia 6 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 MCOP6 An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. ICD10CM:Q11.0 MIM:613094 ORDO:2542 MCOP4 disease_ontology DOID:0060836 isolated microphthalmia 4 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 MCOP4 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. ICD10CM:Q15.8 MIM:611040 ORDO:251279 MCOP5 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen disease_ontology DOID:0060837 isolated microphthalmia 5 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 MCOP5 An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13. ICD10CM:Q11.0 MIM:613704 ORDO:2542 MCOP7 disease_ontology DOID:0060838 isolated microphthalmia 7 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 MCOP7 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. ICD10CM:Q11.0 MIM:610093 ORDO:2542 MCOP2 disease_ontology DOID:0060839 isolated microphthalmia 2 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 MCOP2 An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32. ICD10CM:Q11.0 MIM:251600 ORDO:2542 MCOP1 disease_ontology DOID:0060840 isolated microphthalmia 1 An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/9545413 MCOP1 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. ICD10CM:Q11.0 MIM:615113 ORDO:2542 MCOP8 disease_ontology DOID:0060841 isolated microphthalmia 8 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 MCOP8 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. ICD10CM:Q11.0 MIM:611038 ORDO:2542 MCOP3 disease_ontology DOID:0060842 isolated microphthalmia 3 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 MCOP3 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. MESH:C536965 MIM:162500 ORDO:640 SNOMEDCT_US_2023_03_01:230558006 UMLS_CUI:C0393814 HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy disease_ontology DOID:0060843 hereditary neuropathy with liability to pressure palsies 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 HNPP 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. GARD:7224 MESH:C537849 MIM:310600 NCI:C118634 ORDO:649 SNOMEDCT_US_2023_03_01:15228007 UMLS_CUI:C0266526 Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria disease_ontology DOID:0060844 Norrie disease 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 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. GARD:3224 MESH:C537119 MIM:127300 NCI:C126560 ORDO:240 SNOMEDCT_US_2023_03_01:17818006 UMLS_CUI:C0265309 disease_ontology DOID:0060847 Leri-Weill dyschondrosteosis 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 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. GARD:10806 MIM:300088 ORDO:101039 DEE9 EFMR EIEE9 Juberg Hellman syndrome early infantile epileptic encephalopathy 9 early infantile female-limited epilecptic encephalopathy female restricted epilepsy with mental retardation disease_ontology DOID:0060848 developmental and epileptic encephalopathy 9 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 DEE9 EFMR EIEE9 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. GARD:4160 MESH:C536063 MIM:259770 NCI:C130998 ORDO:2788 SNOMEDCT_US_2023_03_01:254112001 UMLS_CUI:C0432252 OPPG ocular form of osteogenesis imperfecta disease_ontology DOID:0060849 osteoporosis-pseudoglioma syndrome 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 OPPG 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. GARD:705 ICD10CM:Q45.1 MESH:C536376 MIM:167750 NCI:C98813 ORDO:675 SNOMEDCT_US_2023_03_01:40315008 UMLS_CUI:C0149955 disease_ontology DOID:0060850 annular pancreas 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 A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. GARD:7355 ICD10CM:L10.0 MESH:D010392 MIM:169610 NCI:C34910 ORDO:704 SNOMEDCT_US_2023_03_01:49420001 UMLS_CUI:C0030809 familial pemphigus vulgaris disease_ontology DOID:0060851 pemphigus vulgaris 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 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. GARD:9420 MESH:C537185 MIM:609049 NCI:C128145 ORDO:2670 SNOMEDCT_US_2023_03_01:723449004 UMLS_CUI:C1836876 microcoria-congenital nephrosis syndrome disease_ontology DOID:0060852 Pierson syndrome 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 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. GARD:10145 MESH:C538355 MIM:610883 NCI:C124846 ORDO:1713 SNOMEDCT_US_2023_03_01:734016004 UMLS_CUI:C2931246 17p11.2 microduplication syndrome chromosome 17p11.2 duplication syndrome trisomy 17p11.2 disease_ontology DOID:0060853 Potocki-Lupski syndrome 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 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. GARD:4552 MESH:D011546 MIM:264350 NCI:C123251 ORDO:171876 ORDO:756 SNOMEDCT_US_2023_03_01:43941006 UMLS_CUI:C0268436 PHA1B autosomal recessive PHA 1 disease_ontology DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 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 PHA1B 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. GARD:9145 MESH:D011546 MIM:177735 ORDO:756 UMLS_CUI:C1449843 PHA1A autosomal dominant PHA 1 disease_ontology DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 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 PHA1A 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. ICD10CM:Q20.6 MIM:208530 ORDO:97548 Ivemark syndrome asplenia with cardiovascular anomalies disease_ontology DOID:0060856 right atrial isomerism 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 A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14. GARD:7627 MESH:D025962 MIM:182230 NCI:C85063 ORDO:3157 SNOMEDCT_US_2023_03_01:204073006 UMLS_CUI:C0338503 De Morsier syndrome SOD septo-optic dysplasia disease_ontology DOID:0060857 septooptic dysplasia A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14. url:https://www.ncbi.nlm.nih.gov/pubmed/8696006 url:https://www.ncbi.nlm.nih.gov/pubmed/9620767 SOD 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. ICD10CM:E72.0 MESH:C564710 MIM:606407 ORDO:163690 cystinuria with mitochondrial disease disease_ontology DOID:0060858 hypotonia-cystinuria syndrome 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 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. ICD10CM:A02.0 ICD9CM:003.0 Salmonella infection disease_ontology DOID:0060859 salmonellosis 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 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. ICD10CM:Q87.2 MIM:206920 ORDO:1106 MLA OAS Waardenburg anophthalmia syndrome anophthalmia-syndactyly syndrome ophthalmoacromelic syndrome disease_ontology DOID:0060861 microphthalmia with limb anomalies 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 MLA OAS 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. GARD:92 ICD10CM:Q82.8 MESH:C565454 MIM:248300 ORDO:86923 ORDO:87503 UMLS_CUI:C1855644 UMLS_CUI:C4273986 MDM Meleda disease PPK, Gamborg-Nielsen type PPKGN PPKNR keratosis palmoplantaris transgrediens of Siemens palmoplantar keratoderma, Gamborg-Nielsen type palmoplantar keratoderma, Norrbotten type transgrediens palmoplantar keratoderma of Siemens disease_ontology DOID:0060862 mal de Meleda GARD:92 MESH:C565454 ORDO:86923 UMLS_CUI:C1855644 UMLS_CUI:C4273986 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://pubmed.ncbi.nlm.nih.gov/26139149/ url:https://www.ncbi.nlm.nih.gov/pubmed/11285253 url:https://www.ncbi.nlm.nih.gov/pubmed/9887370 MDM PPKGN PPKNR 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. ICD10CM:H35.5 MIM:PS169150 ORDO:99001 patterned dystrophy of retinal pigment epithelium disease_ontology DOID:0060863 patterned macular dystrophy 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 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. MIM:608970 MDPT2 butterfly-shaped pigmentary maculary dystrophy 2 disease_ontology DOID:0060864 patterned macular dystrophy 2 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 MDPT2 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. MIM:617111 MDPT3 Martinique crinkled retinal pigment epitheliopathy disease_ontology DOID:0060865 patterned macular dystrophy 3 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 MDPT3 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. MIM:169150 MDPT1 butterfly-shaped pigmentary maculary dystrophy 1 disease_ontology DOID:0060866 patterned macular dystrophy 1 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 MDPT1 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. MESH:C565342 MIM:605309 ORDO:210548 macrocephaly-intellectual disability-autism syndrome disease_ontology DOID:0060867 macrocephaly-autism syndrome 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 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. GARD:231 ICD10CM:E75.2 MIM:PS603896 ORDO:135 ORDO:157713 ORDO:157716 ORDO:157719 CACH CACH/VWM childhood ataxia with central nervous system hypomyelination vanishing white matter leukodystrophy disease_ontology ovarioleukodystrophy DOID:0060868 leukoencephalopathy with vanishing white matter ORDO:157713 ORDO:157716 ORDO:157719 ORDO:99853 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 CACH CACH/VWM 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. GARD:4357 MESH:C565309 MIM:605670 ORDO:67042 LORD autosomal dominant late-onset retinal degeneration disease_ontology DOID:0060869 late-onset retinal degeneration 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 LORD A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. GARD:12556 ICD10CM:E23.0 ICD9CM:253.3 MESH:D004393 NCI:C34555 ORDO:631 SNOMEDCT_US_2023_03_01:270485009 UMLS_CUI:C0013338 IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency non-acquired isolated growth hormone deficiency disease_ontology DOID:0060870 isolated growth hormone deficiency 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 IGHD 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. ICD10CM:Q80.8 MIM:148210 ORDO:477 autosomal dominant KID syndrome disease_ontology DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome 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 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. ICD10CM:E23.0 MESH:C562704 MIM:173100 ORDO:231679 IGHD II autosomal dominant isolated growth hormone deficiency autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency congenital IGHD type II congenital isolated GH deficiency type II congenital isolated growth hormone deficiency type II disease_ontology DOID:0060872 isolated growth hormone deficiency type II 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 IGHD II 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. ICD10CM:E23.0 MIM:262400 ORDO:231662 IGHD IA Illig-type growth hormone deficiency autosomal recessive isolated growth hormone deficiency pituitary dwarfism I primordial dwarfism sexual ateleiotic dwarfism disease_ontology DOID:0060873 isolated growth hormone deficiency type IA 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 IGHD IA 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. ICD10CM:E23.0 MIM:612781 MIM:618157 ORDO:231671 IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh disease_ontology DOID:0060874 isolated growth hormone deficiency type IB MIM:618157 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 IGHD IB 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. GARD:3921 ICD10CM:E23.0 MIM:307200 ORDO:231692 Fleisher syndrome IGHD III X-linked IGHD X-linked agammaglobulinemia and isolated growth hormone deficiency X-linked hypogammaglobulinemia and isolated growth hormone deficiency X-linked isolated growth hormone deficiency congenital IGHD type III congenital isolated GH deficiency type III congenital isolated growth hormone deficiency type III growth hormone deficiency with hypogammaglobulinemia disease_ontology DOID:0060875 isolated growth hormone deficiency type III 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 IGHD III 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. GARD:2966 MESH:D053560 MIM:146800 NCI:C84777 ORDO:455 SNOMEDCT_US_2023_03_01:254169002 UMLS_CUI:C0432306 bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis disease_ontology DOID:0060877 bullous congenital ichthyosiform erythroderma 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 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. MESH:C537907 MIM:146255 NCI:C130983 ORDO:2237 SNOMEDCT_US_2023_03_01:724282009 UMLS_CUI:C1840333 Barakat syndrome HDR syndrome hypoparathyroidism, sensorineural deafness, and renal disease disease_ontology DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome 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 A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life. ICD10CM:E83.4 MIM:PS602014 ORDO:34526 HOMG primary familial hypomagnesemia disease_ontology DOID:0060879 primary hypomagnesemia 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 HOMG 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. ICD10CM:E83.4 MIM:248250 ORDO:31043 FHHNC without severe ocular involvement HOMG3 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement isolated renal hypomagnesemia primary hypomagnesemia due to defect in renal tubular transport of magnesium renal hypomagnesemia type 3 disease_ontology DOID:0060880 renal hypomagnesemia 3 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 HOMG3 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. MESH:C536148 MIM:248190 ORDO:2196 UMLS_CUI:C2931121 FHHNC with severe ocular involvement Meier-Blumberg-Imahorn syndrome bilateral macular coloboma with hypercalciuria familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement hypercalciuria-bilateral macular coloboma syndrome disease_ontology DOID:0060881 renal hypomagnesemia 5 with ocular involvement 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 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. ICD10CM:E83.4 MIM:611718 ORDO:34527 HOMG4 disease_ontology DOID:0060882 renal hypomagnesemia 4 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 HOMG4 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. ICD10CM:E83.4 MIM:602014 ORDO:30924 HOMG1 hypomagnesemia caused by selective magnesium malabsorption hypomagnesemia intestinal type 1 hypomagnesemic tetany intestinal hypomagnesemia with secondary hypocalcemia primary hypomagnesemia with secondary hypocalcemia disease_ontology DOID:0060883 intestinal hypomagnesemia 1 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 HOMG1 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. GARD:12155 ICD10CM:E83.4 MIM:613882 ORDO:34527 HOMG6 disease_ontology DOID:0060884 renal hypomagnesemia 6 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 HOMG6 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. GARD:3350 ICD10CM:E83.4 MIM:154020 ORDO:34528 HOMG2 autosomal dominant primary hypomagnesemia with hypocalciuria disease_ontology DOID:0060885 renal hypomagnesemia 2 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 HOMG2 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. MESH:C536053 MIM:300373 ORDO:2780 SNOMEDCT_US_2023_03_01:254129003 UMLS_CUI:C0432268 Robinow-Unger syndrome hyperostosis generalisata with striations disease_ontology DOID:0060886 osteopathia striata with cranial sclerosis 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 A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. GARD:9699 MIM:602475 OPLL disease_ontology DOID:0060887 ossification of the posterior longitudinal ligament of spine 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 OPLL A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome. GARD:12765 ICD10CM:D47.7 MIM:159595 ORDO:420611 MST TAM transient abnormal myelopoiesis transient leukemia transient leukemia of Down syndrome transient myeloproliferative disease disease_ontology DOID:0060888 transient myeloproliferative syndrome 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 MST TAM 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. GARD:7479 ICD10CM:Q79.4 MESH:D011535 MIM:100100 ORDO:2970 Eagle-Barrett syndrome Obrinsky syndrome abdominal muscle deficiency syndrome triad syndrome disease_ontology DOID:0060889 prune belly syndrome 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/books/NBK544248/ url:https://www.ncbi.nlm.nih.gov/pubmed/15912376 url:https://www.ncbi.nlm.nih.gov/pubmed/22077972 A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone. ICD10CM:E24.3 ORDO:99889 Cushing syndrome due to ectopic ACTH secretion ectopic ACTH secreting tumor disease_ontology DOID:0060890 ectopic Cushing syndrome 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 An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. ICD10CM:G20 MIM:615528 ORDO:391411 juvenile onset Parkinson disease 19A juvenile onset Parkinson's disease 19A disease_ontology DOID:0060891 Parkinson's disease 19A 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 A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age. MIM:168600 ORDO:411602 late onset Parkinson disease disease_ontology DOID:0060892 late onset Parkinson's disease 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 An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age. juvenile-onset Parkinson disease disease_ontology DOID:0060893 juvenile-onset Parkinson's disease 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 A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age. ORDO:2828 Young-onset Parkinson disease early-onset Parkinson disease disease_ontology DOID:0060894 early-onset Parkinson's disease 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 A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22. ICD10CM:G20 MIM:605543 autosomal dominant Lewy body Parkinson disease 4 autosomal dominant Parkinson disease 4 autosomal dominant Parkinson's disease 4 disease_ontology DOID:0060895 Parkinson's disease 4 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 An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. ICD10CM:G20 MIM:616840 autosomal recessive early-onset Parkinson disease 23 autosomal recessive early-onset Parkinson's disease 23 disease_ontology DOID:0060896 Parkinson's disease 23 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 A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. MIM:614203 Parkinson disease 17 autosomal dominant Parkinson disease 17 disease_ontology DOID:0060897 Parkinson's disease 17 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 An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. MIM:615530 early-onset Parkinson disease 20 early-onset Parkinson's disease 20 disease_ontology DOID:0060898 Parkinson's disease 20 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 A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. MESH:C567844 MIM:612953 Dystonia-Parkinsonism Adult-Onset autosomal recessive Parkinson disease 14 autosomal recessive Parkinson's disease 14 disease_ontology DOID:0060900 Parkinson's disease 14 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 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. DOID:0050747 GARD:7872 ICD10CM:C88.0 ICD9CM:273.3 ICDO:9671/3 MESH:D008258 MIM:153600 MIM:610430 NCI:C115212 NCI:C80307 ORDO:33226 SNOMEDCT_US_2023_03_01:35562000 UMLS_CUI:C0024419 UMLS_CUI:C2936755 Waldenstroem's macroglobulinemia Waldenstrom Macroglobulinemia lymphoplasmacytic lymphoma with IgM gammopathy disease_ontology DOID:0060901 Lymphoplasmacytic lymphoma, also known as Waldenstrom macroglobulinemia. lymphoplasmacytic lymphoma MESH:D008258 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 A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. MESH:C537848 MIM:257320 ORDO:89844 SNOMEDCT_US_2023_03_01:717977003 UMLS_CUI:C0796089 lissencephaly 2 lissencephaly syndrome, Norman-Roberts type disease_ontology DOID:0060902 Norman-Roberts syndrome 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 A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system. MESH:D013927 disease_ontology DOID:0060903 thrombosis 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 A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. Fabaceae allergy disease_ontology DOID:0060904 legume allergy A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. url:https://en.wikipedia.org/wiki/Legume 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. GARD:11003 ICD10CM:N11.8 MIM:614817 ORDO:401996 KIN KMIN disease_ontology DOID:0060911 karyomegalic interstitial nephritis 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 KIN KMIN 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. MIM:617439 CRS7 disease_ontology DOID:0060912 craniosynostosis 7 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/ CRS7 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. MIM:PS256040 ORDO:324977 disease_ontology DOID:0060913 proteosome-associated autoinflammatory syndrome 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/ 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. MIM:618048 PRAAS2 disease_ontology DOID:0060914 proteosome-associated autoinflammatory syndrome 2 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/ PRAAS2 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. MIM:619183 PRAAS4 disease_ontology DOID:0060915 proteosome-associated autoinflammatory syndrome 4 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/ PRAAS4 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. MIM:617591 PRAAS3 disease_ontology DOID:0060916 proteasome-associated autoinflammatory syndrome 3 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/ PRAAS3 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. MIM:619477 FSHD3 facioscapulohumeral muscular dystrophy type 3 disease_ontology DOID:0060917 facioscapulohumeral muscular dystrophy 3 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/ FSHD3 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. MIM:619478 FSHD4 facioscapulohumeral muscular dystrophy type 4 disease_ontology DOID:0060918 facioscapulohumeral muscular dystrophy 4 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/ FSHD4 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. MIM:619175 PRAAS5 disease_ontology DOID:0060919 proteosome-associated autoinflammatory syndrome 5 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/ PRAAS5 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. MIM:166800 OTSC1 disease_ontology DOID:0060920 otosclerosis 1 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/ OTSC1 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q. MIM:605727 OTSC2 disease_ontology DOID:0060921 otosclerosis 2 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/ OTSC2 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p. MIM:608244 OTSC3 disease_ontology DOID:0060922 otosclerosis 3 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/ OTSC3 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q. MIM:611571 OTSC4 disease_ontology DOID:0060923 otosclerosis 4 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/ OTSC4 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. MIM:608787 OTSC5 disease_ontology DOID:0060924 otosclerosis 5 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/ OTSC5 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13. MIM:611572 OTSC7 disease_ontology DOID:0060925 otosclerosis 7 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/ OTSC7 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11. MIM:612096 OTSC8 disease_ontology DOID:0060926 otosclerosis 8 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/ OTSC8 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44. MIM:615589 OTSC10 disease_ontology DOID:0060927 otosclerosis 10 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/ OTSC10 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. MIM:620576 OTSC11 disease_ontology DOID:0060928 otosclerosis 11 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/ OTSC11 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. MIM:301107 XLID111 disease_ontology DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 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/ XLID111 A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. MESH:D000082602 MIM:PS142700 disease_ontology DOID:0060930 developmental dysplasia of the hip 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/ 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. MIM:142700 DDH1 disease_ontology DOID:0060931 developmental dysplasia of the hip 1 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/ DDH1 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. MIM:615612 DDH2 disease_ontology DOID:0060932 developmental dysplasia of the hip 2 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/ DDH2 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. MIM:620535 DEVDFB disease_ontology DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies 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/ DEVDFB 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. MIM:617862 NEDMEBA disease_ontology DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 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/ NEDMEBA 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. MIM:616900 ORDO:488632 UMLS_CUI:C5567480 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 IHPRF3 TBCK-related intellectual disability syndrome disease_ontology DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 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/ IHPRF3 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. ICD10CM:G24.8 MIM:617284 ORDO:589618 UMLS_CUI:C4310633 DYSTONIA 28, CHILDHOOD-ONSET DYT28 disease_ontology DOID:0060936 dystonia 28, childhood-onset 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/ DYT28 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. MIM:619291 DYT30 disease_ontology DOID:0060937 dystonia 30 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/ DYT30 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. MIM:619565 DYT31 ZECH-BOESCH SYNDROME disease_ontology DOID:0060938 dystonia 31 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/ DYT31 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. MIM:619637 DYT32 disease_ontology DOID:0060939 dystonia 32 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/ DYT32 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. MIM:619687 disease_ontology DOID:0060940 dystonia 33 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/ 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. GARD:8609 MIM:619611 ORDO:2032 Idiopathic pulmonary fibrosis disease_ontology DOID:0060941 interstitial lung disease 1 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/ 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. MIM:620727 disease_ontology DOID:0060942 Ullrich congenital muscular dystrophy 1B 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/ 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. MIM:620728 disease_ontology DOID:0060943 Ullrich congenital muscular dystrophy 1C 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/ 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. MIM:620245 disease_ontology DOID:0060944 episodic kinesigenic dyskinesia 3 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/ An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21. GARD:5791 MIM:620104 ORDO:88661 disease_ontology DOID:0060945 amelogenesis imperfecta type 1K 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/ 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. MIM:254090 disease_ontology DOID:0060946 Ullrich congenital muscular dystrophy 1A 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/ 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. MIM:620779 disease_ontology DOID:0060947 autosomal recessive intellectual developmental disorder 82 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/ 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. GARD:4769 MIM:616470 ORDO:75840 disease_ontology DOID:0060948 Ullrich congenital muscular dystrophy 2 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/ 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. GARD:13202 MIM:250620 ORDO:88639 HIBCH deficiency Methacrylic aciduria Valine metabolic defect disease_ontology DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency 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/ 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. MIM:618850 branched-chain aminotransferase 2 deficiency disease_ontology DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia 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/ 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. MIM:618061 disease_ontology DOID:0060951 polycystic kidney disease 6 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/ 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. MIM:620056 disease_ontology DOID:0060952 polycystic kidney disease 7 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/ A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. GARD:13489 MIM:617140 ORDO:500150 UMLS_CUI:C4310696 ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME Zhu-Tokita-Takenouchi-Kim syndrome disease_ontology DOID:0060953 ZTTK syndrome 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/ 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. MIM:301043 disease_ontology DOID:0060954 Holoprosencephaly 13, X-linked 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/ 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. MIM:619921 disease_ontology DOID:0060955 dystonia 35, childhood-onset 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/ 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. MIM:620427 disease_ontology DOID:0060956 dystonia 37, early-onset with striatal lesions 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/ 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. MIM:619724 disease_ontology DOID:0060957 myoclonic dystonia 34 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/ 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. GARD:13655 MIM:615948 ORDO:434179 disease_ontology DOID:0060958 orofaciodigital syndrome XIV 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/ 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. GARD:3701 MIM:252100 ORDO:2751 Mohr syndrome Oral-facial-digital syndrome type 2 disease_ontology DOID:0060959 orofaciodigital syndrome II 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/ 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. MIM:620107 Oral-facial-digital syndrome type XIX disease_ontology DOID:0060960 orofaciodigital syndrome XIX 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/ 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. MIM:617927 ORDO:508501 Oral-facial-digital syndrome type 18 Oral-facial-digital syndrome with short stature and brachymesophalangy Orofaciodigital syndrome type 18 disease_ontology DOID:0060961 orofaciodigital syndrome XVIII 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/ 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. MIM:620718 disease_ontology DOID:0060962 orofaciodigital syndrome XX 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/ 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. Autosomal dominant Segawa syndrome DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION GTPCH1-deficient DRD GTPCH1-deficient dopa-responsive dystonia HPD with marked diurnal fluctuation Hereditary progressive dystonia with marked diurnal fluctuation disease_ontology DOID:0060963 obsolete dystonia, DOPA-responsive true 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/ 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. MIM:619656 disease_ontology DOID:0060964 Loeys-Dietz syndrome 6 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/ 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. MIM:618924 disease_ontology DOID:0060965 episodic ataxia type 9 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/ 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. MIM:620453 disease_ontology DOID:0060966 dystonia 22, juvenile-onset 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/ A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. MIM:620456 disease_ontology DOID:0060967 dystonia 22, adult-onset 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/ 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. MIM:620177 disease_ontology DOID:0060968 hypotrichosis 15 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/ 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. MIM:618881 ORDO:570422 GALM deficiency Galactose mutarotase deficiency Galactosemia type 4 disease_ontology DOID:0060969 galactosemia 4 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/ 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. MIM:620568 disease_ontology DOID:0060970 Cornelia de Lange syndrome 6 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/ 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. MIM:178500 disease_ontology DOID:0060971 interstitial lung disease 2 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/ 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. MIM:620152 disease_ontology DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy 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/ 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. MIM:619407 WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 2 disease_ontology DOID:0060973 WHIM syndrome 2 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/ 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. MIM:618529 disease_ontology DOID:0060974 autosomal recessive Robinow syndrome 2 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/ 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. MIM:617004 POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS disease_ontology DOID:0060975 polycystic liver disease 2 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/ 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. MIM:617874 disease_ontology DOID:0060976 polycystic liver disease 3 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/ 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. MIM:617875 disease_ontology DOID:0060977 polycystic liver disease 4 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/ A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23. MIM:617784 disease_ontology DOID:0060978 Fanconi anemia complementation group W 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/ 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. MIM:617883 disease_ontology DOID:0060979 Fanconi anemia complementation group S 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/ 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. MIM:174050 disease_ontology DOID:0060980 polycystic liver disease 1 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/ 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. MIM:620153 MVA4 disease_ontology DOID:0060981 mosaic variegated aneuploidy syndrome 4 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/ MVA4 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. MIM:620189 disease_ontology DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition 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/ A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21. MIM:618666 disease_ontology DOID:0060983 sitosterolemia 2 MIM:618666 A sitosterolemia 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/ 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. MIM:620040 disease_ontology DOID:0060984 digenic dyskeratosis congenita 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/ A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14. MIM:174700 crossed polydactyly type 1 disease_ontology DOID:0060985 preaxial polydactyly type IV A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14. url:https://pubmed.ncbi.nlm.nih.gov/6641002/ 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. GARD:5289 MIM:174500 ORDO:93336 polydactyly of a triphalangeal thumb disease_ontology DOID:0060986 preaxial polydactyly II 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/ 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. GARD:4417 MIM:174400 ORDO:93339 disease_ontology DOID:0060987 preaxial polydactyly I 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/ A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12. MIM:615935 disease_ontology DOID:0060988 pancreatic agenesis 2 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/ 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. MIM:617877 SSFSC1 disease_ontology DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 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/ SSFSC1 A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24. MIM:619775 disease_ontology DOID:0060990 congenital disorder of deglycosylation 2 A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24. url:https://pubmed.ncbi.nlm.nih.gov/35045343/ A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins. disease_ontology DOID:0060991 congenital disorder of deglycosylation A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins. url:https://www.chop.edu/conditions-diseases/congenital-disorders-glycosylation-cdg A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. MIM:614592 disease_ontology DOID:0060992 bent bone dysplasia syndrome 1 A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. url:https://pubmed.ncbi.nlm.nih.gov/22387015/ A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13. MIM:620076 disease_ontology DOID:0060993 bent bone dysplasia syndrome 2 A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/33242826/ A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36. MIM:617086 disease_ontology DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36. url:https://pubmed.ncbi.nlm.nih.gov/26783368/ A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11. MIM:619840 MACTHC2 disease_ontology DOID:0060995 autosomal dominant isolated macrothrombocytopenia 2 A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11. url:https://pubmed.ncbi.nlm.nih.gov/34704371/ MACTHC2 A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14. MIM:616903 disease_ontology DOID:0060996 poor metabolism of thiopurines 2 A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14. url:https://pubmed.ncbi.nlm.nih.gov/26878724/ A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13. MIM:613325 RTPS2 disease_ontology DOID:0060997 rhabdoid tumor predisposition syndrome 2 MIM:613325 A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/24752781/ RTPS2 A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27. MIM:616922 disease_ontology DOID:0060998 striatal degeneration 2 A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27. url:https://pubmed.ncbi.nlm.nih.gov/27058447/ A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3. MIM:620300 MTPD2 disease_ontology DOID:0060999 mitochondrial trifunctional protein deficiency 2 A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3. url:https://pubmed.ncbi.nlm.nih.gov/12754706/ MTPD2 A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21. MIM:620398 GCE2 disease_ontology DOID:0061001 glycine encephalopathy 2 A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21. url:https://pubmed.ncbi.nlm.nih.gov/8005589/ GCE2 A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27. MIM:620481 disease_ontology DOID:0061002 congenital amegakaryocytic thrombocytopenia 2 A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27. url:https://pubmed.ncbi.nlm.nih.gov/28559357/ A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12. MIM:260370 disease_ontology DOID:0061003 pancreatic agenesis 1 A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12. url:https://pubmed.ncbi.nlm.nih.gov/20009086/ A poor metabolism of thiopurines that has_material_basis_in homozygous or compound heterozygous mutation in the TPMT gene on chromosome 6p22. MIM:610460 disease_ontology DOID:0061004 poor metabolism of thiopurines 1 A poor metabolism of thiopurines that has_material_basis_in homozygous or compound heterozygous mutation in the TPMT gene on chromosome 6p22. url:https://pubmed.ncbi.nlm.nih.gov/2758725/ A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34. MIM:604498 disease_ontology DOID:0061005 congenital amegakaryocytic thrombocytopenia 1 A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34. url:https://pubmed.ncbi.nlm.nih.gov/16351641/ An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13. MIM:620015 FASPS4 familial advanced sleep phase syndrome 4 disease_ontology DOID:0061006 advanced sleep phase syndrome 4 An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/31138685/ FASPS4 A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12. MIM:619523 SIDBA5 disease_ontology DOID:0061007 Only 1 patient has been reported, 11/12/2024. sideroblastic anemia 5 A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12. url:https://pubmed.ncbi.nlm.nih.gov/32634119/ SIDBA5 A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24. MIM:616602 CRS6 disease_ontology DOID:0061008 craniosynostosis 6 A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24. url:https://pubmed.ncbi.nlm.nih.gov/26340333/ CRS6 A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35. GARD:5538 MIM:604757 ORDO:1541 CRS2 Craniosynostosis Boston type Craniosynostosis Warman type Warman-Mulliken-Hayward syndrome disease_ontology DOID:0061009 craniosynostosis 2 A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35. url:https://pubmed.ncbi.nlm.nih.gov/23438589/ CRS2 A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. MIM:123100 CRS1 disease_ontology DOID:0061010 craniosynostosis 1 A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. url:https://pubmed.ncbi.nlm.nih.gov/23438589/ CRS1 A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21. MIM:615314 CRS3 disease_ontology DOID:0061011 craniosynostosis 3 A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21. url:https://pubmed.ncbi.nlm.nih.gov/23438589/ CRS3 A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13. MIM:600775 ORDO:647681 CRS4 disease_ontology DOID:0061012 craniosynostosis 4 A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/23438589/ CRS4 A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11. MIM:619665 ODG9 disease_ontology DOID:0061013 ovarian dysgenesis 9 A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11. url:https://pubmed.ncbi.nlm.nih.gov/34697795/ ODG9 A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12. MIM:619834 ODG10 disease_ontology DOID:0061014 ovarian dysgenesis 10 A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12. url:https://pubmed.ncbi.nlm.nih.gov/34402903/ ODG10 A syndromic X-linked intellectual disability that has_material_basis_in heterozygous mutation in the ZC4H2 gene on chromosome Xq11. MIM:301041 WRWFFR disease_ontology DOID:0061015 PS314580 female-restricted Wieacker-Wolff syndrome A syndromic X-linked intellectual disability that has_material_basis_in heterozygous mutation in the ZC4H2 gene on chromosome Xq11. url:https://pubmed.ncbi.nlm.nih.gov/31206972/ WRWFFR A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21. MIM:618160 IGHD5 Isolated growth hormone deficiency type V disease_ontology DOID:0061016 combined or isolated pituitary growth hormone deficiency 7 A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21. url:https://pubmed.ncbi.nlm.nih.gov/33650182/ IGHD5 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the LHX4 gene on chromosome 1q25. GARD:10604 MIM:262700 short stature-pituitary and cerebellar defects-small sella turcica syndrome disease_ontology DOID:0061017 combined pituitary hormone deficiency 4 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the LHX4 gene on chromosome 1q25. url:https://pubmed.ncbi.nlm.nih.gov/17527005/ A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12. MIM:620303 CPHD8 disease_ontology DOID:0061018 combined or isolated pituitary hormone deficiency 8 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12. url:https://pubmed.ncbi.nlm.nih.gov/28402530/ CPHD8 A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11. MIM:613038 CPHD1 disease_ontology DOID:0061019 combined or isolated pituitary hormone deficiency 1 A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11. url:https://pubmed.ncbi.nlm.nih.gov/34270938/ CPHD1 A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35. MIM:262600 CPHD2 disease_ontology DOID:0061020 combined pituitary hormone deficiency 2 A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35. url:https://pubmed.ncbi.nlm.nih.gov/9462743/ CPHD2 A combined pituitary hormone deficiency that has_material_basis_in homozygous mutation in the LHX3 gene on chromosome 9q34. MIM:221750 CPHD3 disease_ontology DOID:0061021 combined pituitary hormone deficiency 3 A combined pituitary hormone deficiency that has_material_basis_in homozygous mutation in the LHX3 gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/10835633/ CPHD3 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q21. MIM:613986 CPHD6 disease_ontology DOID:0061022 combined pituitary hormone deficiency 6 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q21. url:https://pubmed.ncbi.nlm.nih.gov/18728160/ CPHD6 A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22. MIM:619691 TTD8 disease_ontology DOID:0061023 nonphotosensitive trichothiodystrophy 8 A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22. url:https://pubmed.ncbi.nlm.nih.gov/33909043/ TTD8 A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in homozygous mutation in the MARS1 gene on chromosome 12q13. MIM:619692 TTD9 disease_ontology DOID:0061024 Only 1 patient has been reported as of 12/17/2024. nonphotosensitive trichothiodystrophy 9 A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in homozygous mutation in the MARS1 gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/33909043/ TTD9 A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31. MIM:619433 RCM6 restrictive cardiomyopathy 6 disease_ontology DOID:0061025 familial restrictive cardiomyopathy 6 A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31. url:https://pubmed.ncbi.nlm.nih.gov/29357359/ RCM6 A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene. MIM:266140 ORDO:98867 HPP disease_ontology DOID:0061026 hereditary pyropoikilocytosis A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene. url:https://pubmed.ncbi.nlm.nih.gov/1191563/ HPP A Duane retraction syndrome that has_material_basis_in loci that maps to chromosome 8q13. MIM:126800 DURS1 disease_ontology DOID:0061027 Duane retraction syndrome 1 A Duane retraction syndrome that has_material_basis_in loci that maps to chromosome 8q13. url:https://pubmed.ncbi.nlm.nih.gov/10577917/ DURS1 A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the CHN1 gene on chromosome 2q31. MIM:604356 DURS2 disease_ontology DOID:0061028 Duane retraction syndrome 2 A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the CHN1 gene on chromosome 2q31. url:https://pubmed.ncbi.nlm.nih.gov/20034095/ DURS2 A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. MIM:617041 DURS3 disease_ontology DOID:0061029 Duane retraction syndrome 3 A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. url:https://pubmed.ncbi.nlm.nih.gov/27181683/ DURS3 A blood coagulation disease characterized by spontaneous hemorrhage or prolonged bleeding. GARD:0418 disease_ontology DOID:0061030 hemophilia A blood coagulation disease characterized by spontaneous hemorrhage or prolonged bleeding. url:https://medlineplus.gov/hemophilia.html url:https://www.nhlbi.nih.gov/health/bleeding-disorders/types An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23. MIM:618050 disease_ontology DOID:0061031 autosomal dominant intellectual developmental disorder 57 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23. url:https://pubmed.ncbi.nlm.nih.gov/29861108/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34. MIM:618106 disease_ontology DOID:0061032 autosomal dominant intellectual developmental disorder 58 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/29688601/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2G gene on chromosome 10q22. MIM:618522 disease_ontology DOID:0061033 autosomal dominant intellectual developmental disorder 59 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2G gene on chromosome 10q22. url:https://pubmed.ncbi.nlm.nih.gov/30184290/ An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23. MIM:618009 disease_ontology DOID:0061034 autosomal dominant intellectual developmental disorder 61 An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23. url:https://pubmed.ncbi.nlm.nih.gov/29740699/ An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13. MIM:618793 disease_ontology DOID:0061035 autosomal dominant intellectual developmental disorder 62 An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/29460436/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIO gene on chromosome 5p15. MIM:618825 disease_ontology DOID:0061036 autosomal dominant intellectual developmental disorder 63 with macrocephaly An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIO gene on chromosome 5p15. url:https://pubmed.ncbi.nlm.nih.gov/32109419/ An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14. MIM:619188 disease_ontology DOID:0061037 autosomal dominant intellectual developmental disorder 64 An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14. url:https://pubmed.ncbi.nlm.nih.gov/31723249/ An autosomal dominant intellectual developmental disorder characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KDM4B gene on chromosome 19p13. MIM:619320 disease_ontology DOID:0061038 autosomal dominant intellectual developmental disorder 65 An autosomal dominant intellectual developmental disorder characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KDM4B gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/33232677/ An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21. MIM:619910 disease_ontology DOID:0061039 autosomal dominant intellectual developmental disorder 66 An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21. url:https://pubmed.ncbi.nlm.nih.gov/35358416/ An autosomal dominant intellectual developmental disorder characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood that has_material_basis_in heterozygous mutation in the GRIA1 gene on chromosome 5q33. MIM:619927 disease_ontology DOID:0061040 autosomal dominant intellectual developmental disorder 67 An autosomal dominant intellectual developmental disorder characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood that has_material_basis_in heterozygous mutation in the GRIA1 gene on chromosome 5q33. url:https://pubmed.ncbi.nlm.nih.gov/35675825/ An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly , poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13. MIM:619934 disease_ontology DOID:0061041 autosomal dominant intellectual developmental disorder 68 An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly , poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/33150406/ An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11. MIM:617863 disease_ontology DOID:0061042 autosomal dominant intellectual developmental disorder 69 An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11. url:https://pubmed.ncbi.nlm.nih.gov/31020005/ An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21. MIM:620157 disease_ontology DOID:0061043 autosomal dominant intellectual developmental disorder 70 An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21. url:https://pubmed.ncbi.nlm.nih.gov/32710489/ An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21. MIM:620330 disease_ontology DOID:0061044 autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21. url:https://pubmed.ncbi.nlm.nih.gov/33658631/ An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13. MIM:620439 disease_ontology DOID:0061045 autosomal dominant intellectual developmental disorder 72 An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13. url:https://pubmed.ncbi.nlm.nih.gov/35567594/ An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13. MIM:620450 disease_ontology DOID:0061046 autosomal dominant intellectual developmental disorder 73 An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/35904126/ An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11. MIM:620688 disease_ontology DOID:0061047 autosomal dominant intellectual developmental disorder 74 An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11. url:https://pubmed.ncbi.nlm.nih.gov/37541189/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the DHX9 gene on chromosome 1q25. MIM:620988 disease_ontology DOID:0061048 autosomal dominant intellectual developmental disorder 75 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the DHX9 gene on chromosome 1q25. url:https://pubmed.ncbi.nlm.nih.gov/37467750/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13. MIM:136630 disease_ontology DOID:0061049 autosomal dominant intellectual developmental disorder type FRA12A An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/17236128/ An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27. MIM:618587 MRD60 disease_ontology DOID:0061050 autosomal dominant intellectual developmental disorder 60 with seizures An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27. url:https://pubmed.ncbi.nlm.nih.gov/31104773/ MRD60 A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13. MIM:619313 immunodeficiency 80 with or without cautosomal recessive inheritancediomyopathy disease_ontology DOID:0061051 immunodeficiency 80 A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13. url:https://pubmed.ncbi.nlm.nih.gov/33712616/ A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33. MIM:619374 disease_ontology DOID:0061052 immunodeficiency 81 A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33. url:https://pubmed.ncbi.nlm.nih.gov/33231617/ A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22. MIM:619381 immunodeficiency 82 with systemic inflammation disease_ontology DOID:0061053 immunodeficiency 82 A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22. url:https://pubmed.ncbi.nlm.nih.gov/33782605/ A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. MIM:619437 disease_ontology DOID:0061054 immunodeficiency 84 A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. url:https://pubmed.ncbi.nlm.nih.gov/34155405/ A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12. MIM:619510 immunodeficiency 85 and autoimmunity disease_ontology DOID:0061055 immunodeficiency 85 A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12. url:https://pubmed.ncbi.nlm.nih.gov/31263572/ A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21. MIM:619549 disease_ontology DOID:0061056 immunodeficiency 86 A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21. url:https://pubmed.ncbi.nlm.nih.gov/30127434/ A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. MIM:619573 immunodeficiency 87 and autoimmunity disease_ontology DOID:0061057 immunodeficiency 87 A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. url:https://pubmed.ncbi.nlm.nih.gov/32562707/ A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21. MIM:619630 disease_ontology DOID:0061058 immunodeficiency 88 A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/34160550/ A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that has_material_basis_in homozygous mutation in the CARD10 gene on chromosome 22q13. MIM:619632 immunodeficiency 89 and autoimmunity disease_ontology DOID:0061059 immunodeficiency 89 A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that has_material_basis_in homozygous mutation in the CARD10 gene on chromosome 22q13. url:https://pubmed.ncbi.nlm.nih.gov/32238915/ A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13. MIM:613759 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction disease_ontology DOID:0061060 immunodeficiency 90 A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13. url:https://pubmed.ncbi.nlm.nih.gov/32350755/ A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13. MIM:619644 immunodeficiency 91 and hyperinflammation disease_ontology DOID:0061061 immunodeficiency 91 A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/33876776/ A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16. MIM:619652 disease_ontology DOID:0061062 immunodeficiency 92 A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16. url:https://pubmed.ncbi.nlm.nih.gov/34623332/ A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31. MIM:619705 immunodeficiency-93 and hypertrophic cardiomyopathy disease_ontology DOID:0061063 immunodeficiency 93 A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31. url:https://pubmed.ncbi.nlm.nih.gov/32181500/ A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11. MIM:619750 immunodeficiency 94 with autoinflammation and dysmorphic facies disease_ontology DOID:0061064 immunodeficiency 94 A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11. url:https://pubmed.ncbi.nlm.nih.gov/33517393/ A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24. MIM:619773 disease_ontology DOID:0061065 immunodeficiency 95 A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24. url:https://pubmed.ncbi.nlm.nih.gov/34185153/ A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13. MIM:619774 disease_ontology DOID:0061066 immunodeficiency 96 A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/30395541/ A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22. MIM:619802 immunodeficiency 97 with autoinflammation disease_ontology DOID:0061067 immunodeficiency 97 A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22. url:https://pubmed.ncbi.nlm.nih.gov/31554793/ A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22. MIM:301078 X-linked immunodeficiency 98 with autoinflammation disease_ontology DOID:0061068 immunodeficiency 98 A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22. url:https://pubmed.ncbi.nlm.nih.gov/33512449/ A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11. MIM:619846 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias disease_ontology DOID:0061069 immunodeficiency 99 A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11. url:https://pubmed.ncbi.nlm.nih.gov/32484799/ A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24. MIM:618042 immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia disease_ontology DOID:0061070 immunodeficiency 100 A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24. url:https://pubmed.ncbi.nlm.nih.gov/34145065/ A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that has_material_basis_in heterozygous mutation in the POLR3F gene on chromosome 20p11. MIM:619872 immunodeficiency 101 varicella zoster virus-specific disease_ontology DOID:0061071 immunodeficiency 101 A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that has_material_basis_in heterozygous mutation in the POLR3F gene on chromosome 20p11. url:https://pubmed.ncbi.nlm.nih.gov/30211253/ A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26. MIM:301082 disease_ontology DOID:0061072 immunodeficiency 102 A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26. url:https://pubmed.ncbi.nlm.nih.gov/33876203/ A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22. MIM:621101 PRLTS7 disease_ontology DOID:0061073 Perrault syndrome 7 A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22. url:https://pubmed.ncbi.nlm.nih.gov/39701103/ PRLTS7 A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31. MIM:619924 disease_ontology DOID:0061074 severe combined immunodeficiency 105 A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31. url:https://pubmed.ncbi.nlm.nih.gov/10700239/ A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22. MIM:619935 disease_ontology DOID:0061075 immunodeficiency 106 A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22. url:https://pubmed.ncbi.nlm.nih.gov/35442418/ A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that has_material_basis_in heterozygous mutation in the OTULIN gene on chromosome 5p15. MIM:619986 immunodeficiency 107 with susceptibility to invasive Staphylococcus aureus infection disease_ontology DOID:0061076 immunodeficiency 107 A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that has_material_basis_in heterozygous mutation in the OTULIN gene on chromosome 5p15. url:https://pubmed.ncbi.nlm.nih.gov/35587511/ A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11. MIM:260570 immunodeficiency 108 with autoinflammation disease_ontology DOID:0061077 immunodeficiency 108 A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11. url:https://pubmed.ncbi.nlm.nih.gov/31201888/ A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36. MIM:620282 Immunodeficiency-109 with EBV-induced lymphoproliferation disease_ontology DOID:0061078 immunodeficiency 109 A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/30872117/ A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21. MIM:620449 disease_ontology DOID:0061079 immunodeficiency 112 A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/29230214/ A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22. MIM:620603 folate-responsive immunodeficiency 114 disease_ontology DOID:0061080 immunodeficiency 114 A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22. url:https://pubmed.ncbi.nlm.nih.gov/36517554/ A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11. MIM:620632 immunodeficiency 115 with autoinflammation disease_ontology DOID:0061081 immunodeficiency 115 A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11. url:https://pubmed.ncbi.nlm.nih.gov/30936877/ A T cell deficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the CD8-alpha gene on chromosome 2p12. MIM:608957 disease_ontology DOID:0061082 immunodeficiency 116 A T cell deficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the CD8-alpha gene on chromosome 2p12. url:https://pubmed.ncbi.nlm.nih.gov/26563160/ A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31. MIM:620668 disease_ontology DOID:0061083 immunodeficiency 117 A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31. url:https://pubmed.ncbi.nlm.nih.gov/36736301/ A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24. MIM:301115 disease_ontology DOID:0061084 immunodeficiency 118 A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24. url:https://pubmed.ncbi.nlm.nih.gov/37875108/ A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. MIM:620825 disease_ontology DOID:0061085 immunodeficiency 119 A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. url:https://pubmed.ncbi.nlm.nih.gov/30498080/ A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13. MIM:620836 disease_ontology DOID:0061086 immunodeficiency 120 A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/31629014/ A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22. MIM:620807 immunodeficiency 121 with autoinflammation disease_ontology DOID:0061087 immunodeficiency 121 A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22. url:https://pubmed.ncbi.nlm.nih.gov/38503300/ A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13. MIM:620869 disease_ontology DOID:0061088 immunodeficiency 122 A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13. url:https://pubmed.ncbi.nlm.nih.gov/38099988/ A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33. MIM:620901 immunodeficiency 123 with HPV-related verrucosis disease_ontology DOID:0061089 immunodeficiency 123 A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33. url:https://pubmed.ncbi.nlm.nih.gov/34214472/ A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35. MIM:611291 disease_ontology DOID:0061090 severe combined immunodeficiency 124 A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35. url:https://pubmed.ncbi.nlm.nih.gov/37703920/ A B cell deficiency that is characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections and that has_material_basis_in homozygous mutation in the FLT3LG gene on chromosome 19q13. MIM:620926 disease_ontology DOID:0061091 immunodeficiency 125 A B cell deficiency that is characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections and that has_material_basis_in homozygous mutation in the FLT3LG gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/38701783/ A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21. MIM:620977 disease_ontology DOID:0061092 immunodeficiency 127 A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21. url:https://pubmed.ncbi.nlm.nih.gov/39198650/ A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21. MIM:620983 disease_ontology DOID:0061093 immunodeficiency 128 A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21. url:https://pubmed.ncbi.nlm.nih.gov/33529166/ A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that has_material_basis_in homozygous mutation in the RHOH gene on chromosome 4p14. MIM:618307 disease_ontology DOID:0061094 immunodeficiency 129 A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that has_material_basis_in homozygous mutation in the RHOH gene on chromosome 4p14. url:https://pubmed.ncbi.nlm.nih.gov/38775840/ A T cell deficiency that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21. MIM:618309 immunodeficiency 130 with HPV-related verrucosis disease_ontology DOID:0061095 immunodeficiency 130 A T cell deficiency that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21. url:https://pubmed.ncbi.nlm.nih.gov/39352394/ A primary immunodeficiency disease that is characterized recurrent infections and features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. The disorder results from dysregulation of the actin cytoskeleton that affects certain cell lineages. MIM:620565 immunodeficiency 133 with autoimmunity and autoinflammation disease_ontology DOID:0061096 immunodeficiency 133 A primary immunodeficiency disease that is characterized recurrent infections and features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. The disorder results from dysregulation of the actin cytoskeleton that affects certain cell lineages. url:https://pubmed.ncbi.nlm.nih.gov/37349293/ A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32. MIM:621096 disease_ontology DOID:0061097 immunodeficiency 132B A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32. url:https://pubmed.ncbi.nlm.nih.gov/39579173/ A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11. MIM:201000 disease_ontology DOID:0061098 Carpenter syndrome 1 A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11. url:https://pubmed.ncbi.nlm.nih.gov/20358613/ A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13. MIM:614976 disease_ontology DOID:0061099 Carpenter syndrome 2 A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/23063620/ A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal dominant mutation. GARD:3605 ORDO:2514 disease_ontology DOID:0061100 autosomal dominant primary microcephaly A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal dominant mutation. url:https://pubmed.ncbi.nlm.nih.gov/32910914/ A primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that has_material_basis_in heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32. MIM:614849 IMD132A disease_ontology DOID:0061101 immunodeficiency 132A A primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that has_material_basis_in heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32. url:https://pubmed.ncbi.nlm.nih.gov/36004314/ IMD132A A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25. CMH27 familial hypertrophic cardiomyopathy 27 disease_ontology DOID:0061102 hypertrophic cardiomyopathy 27 A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25. url:https://pubmed.ncbi.nlm.nih.gov/26846950/ CMH27 A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34. MIM:617123 RP76 disease_ontology DOID:0061103 retinitis pigmentosa 76 MIM:617123 A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34. url:https://pubmed.ncbi.nlm.nih.gov/27391550/ RP76 A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37. MIM:620228 RP96 disease_ontology DOID:0061104 autosomal dominant retinitis pigmentosa 96 MIM:620228 A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37. url:https://pubmed.ncbi.nlm.nih.gov/28549094/ RP96 A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. MIM:619845 RP93 disease_ontology DOID:0061105 retinitis pigmentosa 93 MIM:619845 A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. url:https://pubmed.ncbi.nlm.nih.gov/30267408/ RP93 A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14. MIM:153870 RP91 disease_ontology DOID:0061106 retinitis pigmentosa 91 MIM:153870 A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14. url:https://pubmed.ncbi.nlm.nih.gov/32817297/ RP91 A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22. MIM:619614 RP92 disease_ontology DOID:0061107 retinitis pigmentosa 92 MIM:619614 A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22. url:https://pubmed.ncbi.nlm.nih.gov/30085091/ RP92 A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22. MIM:617460 RP79 disease_ontology DOID:0061108 retinitis pigmentosa 79 MIM:617460 A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22. url:https://pubmed.ncbi.nlm.nih.gov/25190649/ RP79 A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12. MIM:620996 RP98 disease_ontology DOID:0061109 retinitis pigmentosa 98 MIM:620996 A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12. url:https://pubmed.ncbi.nlm.nih.gov/39191256/ RP98 A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14. MIM:620422 RP97 disease_ontology DOID:0061110 retinitis pigmentosa 97 MIM:620422 A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14. url:https://pubmed.ncbi.nlm.nih.gov/37012052/ RP97 A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. MIM:617781 RP80 disease_ontology DOID:0061111 retinitis pigmentosa 80 MIM:617781 A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. url:https://pubmed.ncbi.nlm.nih.gov/26359340/ RP80 A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13. MIM:620102 RP95 disease_ontology DOID:0061112 retinitis pigmentosa 95 MIM:620102 A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/30377383/ RP95 A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13. MIM:617433 RP78 disease_ontology DOID:0061113 retinitis pigmentosa 78 MIM:617433 A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/28132693/ RP78 An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14. MIM:621100 MRT83 disease_ontology DOID:0061114 autosomal recessive intellectual developmental disorder 83 An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14. url:https://pubmed.ncbi.nlm.nih.gov/39824192/ MRT83 A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34. MIM:254940 CFZS1 disease_ontology DOID:0061115 Carey-Fineman-Ziter syndrome 1 A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/27232676/ CFZS1 A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21. MIM:619941 CFZS2 disease_ontology DOID:0061116 Carey-Fineman-Ziter syndrome 2 A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21. url:https://pubmed.ncbi.nlm.nih.gov/39668186/ CFZS2 A Perrault syndrome that is characterized by sensorineural deafness in both males and females that has_material_basis_in compound heterozygous mutation in the HARS2 gene on chromosome 5q31. MIM:614926 disease_ontology DOID:0061117 Perrault syndrome 2 A Perrault syndrome that is characterized by sensorineural deafness in both males and females that has_material_basis_in compound heterozygous mutation in the HARS2 gene on chromosome 5q31. url:https://pubmed.ncbi.nlm.nih.gov/21464306/ An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22. MIM:174000 HNFJ2 MCKD2 familial juvenile hyperuricemic nephropathy 2 medullary cystic kidney disease 2 disease_ontology DOID:0061118 autosomal dominant tubulointerstitial kidney disease 2 An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22. url:https://pubmed.ncbi.nlm.nih.gov/31488840/ HNFJ2 MCKD2 An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32. MIM:613092 ORDO:217330 HNFJ4 MCKD4 familial juvenile hyperuricemic nephropathy 4 medullary cystic kidney disease 4 disease_ontology DOID:0061119 autosomal dominant tubulointerstitial kidney disease 4 An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32. url:https://pubmed.ncbi.nlm.nih.gov/19664745/ HNFJ4 MCKD4 An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21. MIM:617056 HNFJ5 MCKD5 familial juvenile hyperuricemic nephropathy 5 medullary cystic kidney disease 5 disease_ontology DOID:0061120 autosomal dominant tubulointerstitial kidney disease 5 An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21. url:https://pubmed.ncbi.nlm.nih.gov/27392076/ HNFJ5 MCKD5 An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23. MIM:621106 HNFJ6 MCKD6 familial juvenile hyperuricemic nephropathy 6 medullary cystic kidney disease 6 disease_ontology DOID:0061121 autosomal dominant tubulointerstitial kidney disease 6 An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23. url:https://pubmed.ncbi.nlm.nih.gov/38096951/ HNFJ6 MCKD6 An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12. MIM:162000 HNFJ1 MCKD1 familial juvenile hyperuricemic nephropathy 1 medullary cystic kidney disease 1 disease_ontology DOID:0061122 autosomal dominant tubulointerstitial kidney disease 1 An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12. url:https://pubmed.ncbi.nlm.nih.gov/31488840/ HNFJ1 MCKD1 A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13. MIM:617248 3-methylglutaconic aciduria type VIII, MGCA8 disease_ontology DOID:0070000 3-methylglutaconic aciduria type 8 A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13. url:https://www.ncbi.nlm.nih.gov/pubmed/27208207 url:https://www.ncbi.nlm.nih.gov/pubmed/27696117 A disease of cellular proliferation that results in an abnormal mass of tissue. disease_ontology DOID:0070001 obsolete neoplastic disease true A disease of cellular proliferation that results in an abnormal mass of tissue. url:http://en.wikipedia.org/wiki/Neoplasm A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13. MIM:617698 3-methylglutaconic acuduria type IX, MGCA9 disease_ontology DOID:0070002 3-methylglutaconic aciduria type 9 A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/27573165 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells. disease_ontology DOID:0070003 blastoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells. url:https://en.wikipedia.org/wiki/Blastoma A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages. disease_ontology DOID:0070004 myeloid neoplasm A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages. url:http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf url:https://www.ncbi.nlm.nih.gov/pubmed/19357394 A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21. MIM:616777 SCKL9 disease_ontology DOID:0070005 Seckel syndrome 9 A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/26595769 SCKL9 A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22. MIM:614728 SCKL6 disease_ontology DOID:0070006 Seckel syndrome 6 A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22. url:https://www.ncbi.nlm.nih.gov/pubmed/21983783 SCKL6 A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. MESH:C537533 MIM:210600 SCKL1 microcephalic primordial dwarfism I disease_ontology DOID:0070007 Seckel syndrome 1 A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. url:https://www.ncbi.nlm.nih.gov/pubmed/12640452 SCKL1 A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24. MIM:617253 SCKL10 disease_ontology DOID:0070008 Seckel syndrome 10 A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/25105364 SCKL10 A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21. MIM:615807 SCKL8 disease_ontology DOID:0070009 Seckel syndrome 8 A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21. url:https://www.ncbi.nlm.nih.gov/pubmed/24389050 SCKL8 A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. MIM:613676 SCKL4 disease_ontology DOID:0070010 Seckel syndrome 4 A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. url:https://www.ncbi.nlm.nih.gov/pubmed/20522431 SCKL4 A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22. MIM:614851 SCKL7 disease_ontology DOID:0070011 Seckel syndrome 7 A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22. url:https://www.ncbi.nlm.nih.gov/pubmed/22933543 SCKL7 A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. MIM:613823 SCKL5 disease_ontology DOID:0070012 Seckel syndrome 5 A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. url:https://www.ncbi.nlm.nih.gov/pubmed/21131973 SCKL5 A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. MESH:C537534 MIM:606744 SCKL2 Seckel-type dwarfism 2 microcephalic primordial dwarfism 2 disease_ontology DOID:0070013 Seckel syndrome 2 A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. url:https://pubmed.ncbi.nlm.nih.gov/11781686/ url:https://www.ncbi.nlm.nih.gov/pubmed/21998596 SCKL2 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. MIM:127550 DKCA1 Dyskeratosis Congenita, Scoggins Type disease_ontology DOID:0070014 autosomal dominant dyskeratosis congenita 1 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. url:https://www.ncbi.nlm.nih.gov/pubmed/11574891 DKCA1 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. MIM:224230 DKCB1 disease_ontology DOID:0070015 autosomal recessive dyskeratosis congenita 1 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. url:https://www.ncbi.nlm.nih.gov/pubmed/17507419 DKCB1 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. MIM:613989 DKCA2 disease_ontology DOID:0070016 autosomal dominant dyskeratosis congenita 2 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. url:https://www.ncbi.nlm.nih.gov/pubmed/16247010 DKCA2 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. MIM:613987 DKCB2 disease_ontology DOID:0070017 autosomal recessive dyskeratosis congenita 2 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. url:https://www.ncbi.nlm.nih.gov/pubmed/18523010 DKCB2 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. MIM:613990 DKCA3 disease_ontology DOID:0070018 autosomal dominant dyskeratosis congenita 3 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. url:https://www.ncbi.nlm.nih.gov/pubmed/18252230 DKCA3 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. MIM:613988 DKCB3 disease_ontology DOID:0070019 autosomal recessive dyskeratosis congenita 3 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/21205863 DKCB3 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. DKCA4 disease_ontology DOID:0070020 autosomal dominant dyskeratosis congenita 4 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. url:https://www.ncbi.nlm.nih.gov/pubmed/23329068 DKCA4 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33. DKCB4 disease_ontology DOID:0070021 autosomal recessive dyskeratosis congenita 4 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33. url:https://www.ncbi.nlm.nih.gov/pubmed/17785587 DKCB4 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. MIM:615190 DKCB5 disease_ontology DOID:0070022 autosomal recessive dyskeratosis congenita 5 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. url:https://www.ncbi.nlm.nih.gov/pubmed/19461895 DKCB5 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. MIM:616553 DKCA6 disease_ontology DOID:0070023 autosomal dominant dyskeratosis congenita 6 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/25205116 DKCA6 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. MIM:616353 DKCB6 disease_ontology DOID:0070024 autosomal recessive dyskeratosis congenita 6 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. url:https://www.ncbi.nlm.nih.gov/pubmed/25893599 DKCB6 A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. MIM:305000 DKCX Zinsser-Cole-Engman syndrome disease_ontology DOID:0070025 X-linked dyskeratosis congenita A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/9590285 DKCX A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. GARD:4695 MIM:268130 DKCA5 Dyskeratosis Congenita, Autosomal Dominant 5 exudative retinopathy with bone marrow failure disease_ontology DOID:0070026 Revesz syndrome A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. url:https://www.ncbi.nlm.nih.gov/pubmed/18252230 DKCA5 A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21. MIM:105150 Amyloidosis VI Amyloidosis, Cerebroarterial, Icelandic Type Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant HCHWA Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant disease_ontology DOID:0070027 CST3-related cerebral amyloid angiopathy A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/2900981 HCHWA A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. MIM:605714 Amyloidosis, Cerebroarterial, App-Related Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Arctic Variant Cerebral Amyloid Angiopathy, App-Related, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Flemish Variant Cerebral Amyloid Angiopathy, App-Related, Iowa Variant Cerebral Amyloid Angiopathy, App-Related, Italian Variant HCHWAD disease_ontology DOID:0070028 APP-related cerebral amyloid angiopathy A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/2111584 HCHWAD A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. GARD:8344 MIM:176500 Cerebral Amyloid Angiopathy, British Type FBD Familial British Dementia Presenile Dementia with Spastic Ataxia disease_ontology DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. url:https://www.ncbi.nlm.nih.gov/pubmed/10391242 url:https://www.ncbi.nlm.nih.gov/pubmed/7086452 FBD A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. MIM:117300 Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis FDD Familial Danish Dementia HOOE Heredopathia Ophthalmootoencephalica disease_ontology DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10781099 FDD HOOE An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. MIM:156200 MRD1 autosomal dominant mental retardation 1 autosomal dominant non-syndromic intellectual disability 1 disease_ontology DOID:0070031 autosomal dominant intellectual developmental disorder 1 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. url:https://www.ncbi.nlm.nih.gov/pubmed/21981781 MRD1 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. MIM:614113 MRD2 autosomal dominant mental retardation 2 autosomal dominant non-syndromic intellectual disability 2 disease_ontology DOID:0070032 autosomal dominant intellectual developmental disorder 2 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. url:https://www.ncbi.nlm.nih.gov/pubmed/18060736 MRD2 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3. MIM:612580 MRD3 autosomal dominant mental retardation 3 autosomal dominant non-syndromic intellectual disability 3 disease_ontology DOID:0070033 autosomal dominant intellectual developmental disorder 3 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19012874 MRD3 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2. MIM:612581 MRD4 autosomal dominant mental retardation 4 autosomal dominant non-syndromic intellectual disability 4 disease_ontology DOID:0070034 autosomal dominant intellectual developmental disorder 4 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/19012874 MRD4 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. MIM:612621 MRD5 autosomal dominant mental retardation 5 autosomal dominant non-syndromic intellectual disability 5 disease_ontology DOID:0070035 autosomal dominant intellectual developmental disorder 5 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. url:https://www.ncbi.nlm.nih.gov/pubmed/19196676 MRD5 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. MIM:613970 MRD6 autosomal dominant mental retardation 6 autosomal dominant non-syndromic intellectual disability 6 disease_ontology DOID:0070036 autosomal dominant intellectual developmental disorder 6 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/20890276 MRD6 An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. MIM:614104 DYRK1A syndrome MRD7 autosomal dominant mental retardation 7 autosomal dominant non-syndromic intellectual disability 7 disease_ontology DOID:0070037 autosomal dominant intellectual developmental disorder 7 An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. url:https://www.ncbi.nlm.nih.gov/books/NBK333438/ url:https://www.ncbi.nlm.nih.gov/pubmed/23160955 MRD7 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. MIM:614254 MRD8 autosomal dominant mental retardation 8 autosomal dominant non-syndromic intellectual disability 8 disease_ontology DOID:0070038 autosomal dominant intellectual developmental disorder 8 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21376300 MRD8 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. MIM:614255 NCI:C133742 UMLS_CUI:C3280283 MRD9 NESCAVS autosomal dominant intellectual disability 9 autosomal dominant mental retardation 9 autosomal dominant non-syndromic intellectual disability 9 neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment disease_ontology DOID:0070039 NESCAV syndrome An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21376300 MRD9 NESCAVS An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3. MIM:614256 MRD10 autosomal dominant mental retardation 10 autosomal dominant non-syndromic intellectual disability 10 disease_ontology DOID:0070040 autosomal dominant intellectual developmental disorder 10 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21376300 MRD10 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. MIM:614257 MRD11 autosomal dominant mental retardation 11 autosomal dominant non-syndromic intellectual disability 11 disease_ontology DOID:0070041 autosomal dominant intellectual developmental disorder 11 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/21376300 MRD11 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. MIM:135900 CSS1 MRD12 autosomal dominant mental retardation 12 fifth digit syndrome disease_ontology DOID:0070042 Coffin-Siris syndrome 1 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/22405089 CSS1 MRD12 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31. MIM:614563 MRD13 autosomal dominant mental retardation 13 autosomal dominant non-syndromic intellectual disability 13 mental retardation, autosomal dominant 13, with neuronal migration defects disease_ontology DOID:0070043 autosomal dominant intellectual developmental disorder 13 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31. url:https://www.ncbi.nlm.nih.gov/pubmed/21076407 MRD13 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. MIM:614607 CSS2 MRD14 autosomal dominant mental retardation 14 disease_ontology DOID:0070044 Coffin-Siris syndrome 2 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. url:https://www.ncbi.nlm.nih.gov/pubmed/22426308 CSS2 MRD14 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. MIM:614608 CSS3 MRD15 autosomal dominant mental retardation 15 disease_ontology DOID:0070045 Coffin-Siris syndrome 3 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/22426308 CSS3 MRD15 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. MIM:614609 CSS4 MRD16 autosomal dominant mental retardation 16 disease_ontology DOID:0070046 Coffin-Siris syndrome 4 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/22426308 CSS4 MRD16 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. MIM:615009 MRD17 SHMS autosomal dominant mental retardation 17 disease_ontology DOID:0070047 Schuurs-Hoeijmakers Syndrome An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/26842493 MRD17 SHMS An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. MIM:615074 MRD18 autosomal dominant intellectual developmental disorder 18 autosomal dominant mental retardation 18 autosomal dominant non-syndromic intellectual disability 18 disease_ontology DOID:0070048 GAND syndrome An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. url:https://pubmed.ncbi.nlm.nih.gov/31949314/ url:https://www.ncbi.nlm.nih.gov/pubmed/23033978 MRD18 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. MIM:615075 MRD19 autosomal dominant mental retardation 19 autosomal dominant non-syndromic intellectual disability 19 disease_ontology DOID:0070049 autosomal dominant intellectual developmental disorder 19 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23033978 MRD19 An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3. MIM:613443 MRD20 autosomal dominant mental retardation 20 mental retardation, autosomal dominant 20 disease_ontology DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20513142 MRD20 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1. MIM:615502 MRD21 autosomal dominant mental retardation 21 autosomal dominant non-syndromic intellectual disability 21 disease_ontology DOID:0070051 autosomal dominant intellectual developmental disorder 21 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23746550 MRD21 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44. MIM:612337 MRD22 autosomal dominant mental retardation 22 autosomal dominant non-syndromic intellectual disability 22 disease_ontology DOID:0070052 autosomal dominant intellectual developmental disorder 22 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44. url:https://www.ncbi.nlm.nih.gov/pubmed/24193349 MRD22 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3. MIM:615761 MRD23 autosomal dominant mental retardation 23 autosomal dominant non-syndromic intellectual disability 23 disease_ontology DOID:0070053 autosomal dominant intellectual developmental disorder 23 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/24680889 MRD23 An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. MIM:615828 IDDISBAS MRD24 VSVS autosomal dominant mental retardation 24 autosomal dominant non-syndromic intellectual disability 24 intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures disease_ontology DOID:0070054 Vulto-van Silfout-de Vries syndrome An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. url:https://pubmed.ncbi.nlm.nih.gov/30923367/ url:https://www.ncbi.nlm.nih.gov/pubmed/21076407 IDDISBAS MRD24 VSVS An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. GARD:13409 MIM:615829 MRD25 autosomal dominant mental retardation 25 disease_ontology DOID:0070055 Xia-Gibbs Syndrome An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. url:https://www.ncbi.nlm.nih.gov/pubmed/24791903 MRD25 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22. MIM:615834 MRD26 autosomal dominant mental retardation 26 autosomal dominant non-syndromic intellectual disability 26 disease_ontology DOID:0070056 autosomal dominant intellectual developmental disorder 26 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22. url:https://www.ncbi.nlm.nih.gov/pubmed/23332918 MRD26 An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. MIM:615866 MRD27 autosomal dominant mental retardation 27 autosomal dominant non-syndromic intellectual disability 27 disease_ontology DOID:0070057 Coffin-Siris syndrome 9 An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. url:https://www.ncbi.nlm.nih.gov/pubmed/24886874 MRD27 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. MIM:615873 HVDAS MRD28 autosomal dominant mental retardation 28 disease_ontology DOID:0070058 Helsmoortel-Van Der Aa Syndrome An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/24531329 HVDAS MRD28 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3. MIM:616078 MRD29 autosomal dominant mental retardation 29 autosomal dominant non-syndromic intellectual disability 29 disease_ontology DOID:0070059 autosomal dominant intellectual developmental disorder 29 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25217958 MRD29 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3. MIM:616083 MRD30 autosomal dominant mental retardation 30 autosomal dominant non-syndromic intellectual disability 30 disease_ontology DOID:0070060 autosomal dominant intellectual developmental disorder 30 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25217958 MRD30 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. MIM:616158 MRD31 autosomal dominant mental retardation 31 autosomal dominant non-syndromic intellectual disability 31 disease_ontology DOID:0070061 autosomal dominant intellectual developmental disorder 31 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25439098 MRD31 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. MIM:616268 ORDO:457193 ARTHS MRD32 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome autosomal dominant mental retardation 32 autosomal dominant non-syndromic intellectual disability 32 disease_ontology DOID:0070062 Arboleda-Tham syndrome An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/25728775 ARTHS MRD32 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2. MIM:616311 MRD33 autosomal dominant mental retardation 33 autosomal dominant non-syndromic intellectual disability 33 disease_ontology DOID:0070063 autosomal dominant intellectual developmental disorder 33 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2. url:https://www.ncbi.nlm.nih.gov/pubmed/23832105 MRD33 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3. MIM:616351 MRD34 autosomal dominant mental retardation 34 autosomal dominant non-syndromic intellectual disability 34 disease_ontology DOID:0070064 autosomal dominant intellectual developmental disorder 34 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25533962 MRD34 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1. MIM:616355 MRD35 autosomal dominant mental retardation 35 autosomal dominant non-syndromic intellectual disability 35 disease_ontology DOID:0070065 autosomal dominant intellectual developmental disorder 35 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/25533962 MRD35 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41. MIM:616362 MRD36 autosomal dominant mental retardation 36 autosomal dominant non-syndromic intellectual disability 36 disease_ontology DOID:0070066 autosomal dominant intellectual developmental disorder 36 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41. url:https://www.ncbi.nlm.nih.gov/pubmed/25533962 MRD36 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3. MIM:616364 MRD37 WHSUS autosomal dominant mental retardation 37 disease_ontology DOID:0070067 White-Sutton syndrome An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25533962 MRD37 WHSUS An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. MIM:616393 MRD38 PRELDS autosomal dominant mental retardation 38 autosomal dominant non-syndromic intellectual disability 38 psychomotor retardation, epilepsy, and language disability syndrome disease_ontology DOID:0070068 autosomal dominant intellectual developmental disorder 38 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. url:https://www.ncbi.nlm.nih.gov/pubmed/24697219 MRD38 PRELDS An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3. MIM:616521 MRD39 autosomal dominant mental retardation 39 autosomal dominant non-syndromic intellectual disability 39 disease_ontology DOID:0070069 autosomal dominant intellectual developmental disorder 39 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/23033978 MRD39 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34. MIM:616579 MRD40 autosomal dominant mental retardation 40 autosomal dominant non-syndromic intellectual disability 40 disease_ontology DOID:0070070 autosomal dominant intellectual developmental disorder 40 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34. url:https://www.ncbi.nlm.nih.gov/pubmed/25533962 MRD40 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32. MIM:616944 MRD41 autosomal dominant mental retardation 41 autosomal dominant non-syndromic intellectual disability 41 disease_ontology DOID:0070071 autosomal dominant intellectual developmental disorder 41 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32. url:https://www.ncbi.nlm.nih.gov/pubmed/25102098 MRD41 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33. MIM:616973 MRD42 autosomal dominant mental retardation 42 autosomal dominant non-syndromic intellectual disability 42 disease_ontology DOID:0070072 autosomal dominant intellectual developmental disorder 42 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33. url:https://www.ncbi.nlm.nih.gov/pubmed/27108799 MRD42 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. MIM:616977 MRD43 autosomal dominant mental retardation 43 autosomal dominant non-syndromic intellectual disability 43 disease_ontology DOID:0070073 autosomal dominant intellectual developmental disorder 43 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/27003583 MRD43 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2. MIM:617061 MRD44 autosomal dominant intellectual developmental disorder 44 with microcephaly autosomal dominant mental retardation 44 autosomal dominant non-syndromic intellectual disability 44 disease_ontology DOID:0070074 autosomal dominant intellectual developmental disorder 44 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2. url:https://www.ncbi.nlm.nih.gov/pubmed/26721934 MRD44 An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the EHMT1 gene on chromosome 9q34.3. disease_ontology DOID:0070075 obsolete Kleefstra Syndrome true An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the EHMT1 gene on chromosome 9q34.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16826528 An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the KANSL1 gene on chromosome 17q21.31. chromosome 17q21.31 deletion syndrome microdeletion 17q21.31 syndrome disease_ontology DOID:0070076 obsolete Koolen-De Vries syndrome true An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the KANSL1 gene on chromosome 17q21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/19447831 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35. MIM:181510 SCZD1 disease_ontology DOID:0070077 schizophrenia 1 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35. url:https://www.ncbi.nlm.nih.gov/pubmed/14699422 SCZD1 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21. MIM:603342 SCZD2 disease_ontology DOID:0070078 schizophrenia 2 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21. url:https://www.ncbi.nlm.nih.gov/pubmed/7490076 SCZD2 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23. MIM:600511 SCZD3 disease_ontology DOID:0070079 schizophrenia 3 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23. url:https://www.ncbi.nlm.nih.gov/pubmed/26814963 SCZD3 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21. MIM:600850 SCZD4 disease_ontology DOID:0070080 schizophrenia 4 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/12217952 SCZD4 A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26. MIM:603175 SCZD5 disease_ontology DOID:0070081 schizophrenia 5 A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26. url:https://www.ncbi.nlm.nih.gov/pubmed/15329799 SCZD5 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21. MIM:603013 SCZD6 disease_ontology DOID:0070082 schizophrenia 6 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21. url:https://www.ncbi.nlm.nih.gov/pubmed/9731535 SCZD6 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32. MIM:603176 SCZD7 disease_ontology DOID:0070083 schizophrenia 7 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32. url:https://www.ncbi.nlm.nih.gov/pubmed/9731535 SCZD7 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD8 gene on chromosome 18p. MIM:603206 SCZD8 disease_ontology DOID:0070084 schizophrenia 8 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD8 gene on chromosome 18p. url:https://www.ncbi.nlm.nih.gov/pubmed/9246509 SCZD8 A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2. MIM:604906 SCZD9 disease_ontology DOID:0070085 schizophrenia 9 A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15197400 SCZD9 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15. MIM:605419 SCZD10 disease_ontology DOID:0070086 schizophrenia 10 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15. url:https://www.ncbi.nlm.nih.gov/pubmed/11001582 SCZD10 A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3. MIM:608078 SCZD11 disease_ontology DOID:0070087 schizophrenia 11 A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/12929083 SCZD11 A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2. MIM:608543 SCZD12 disease_ontology DOID:0070088 schizophrenia 12 A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2. url:https://www.ncbi.nlm.nih.gov/pubmed/14750073 SCZD12 A schizophrenia that has_material_basis_in a mutation on chromosome 15q13. MIM:613025 SCZD13 disease_ontology DOID:0070089 schizophrenia 13 A schizophrenia that has_material_basis_in a mutation on chromosome 15q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9012828 SCZD13 A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1. MIM:612361 SCZD14 disease_ontology DOID:0070090 schizophrenia 14 A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18677311 SCZD14 A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33. MIM:613950 SCZD15 disease_ontology DOID:0070091 schizophrenia 15 A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33. url:https://www.ncbi.nlm.nih.gov/pubmed/20385823 SCZD15 A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3. MIM:613959 SCZD16 disease_ontology DOID:0070092 schizophrenia 16 A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21346763 SCZD16 A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2. MIM:615232 Chromosome 7q36.3 Duplication Syndrome, 362-Kb SCZD18 disease_ontology DOID:0070093 schizophrenia 18 A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/23341099 SCZD18 An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. MIM:203100 OCA1A Oculocutaneous Albinism, Tyrosinase-Negative disease_ontology DOID:0070094 oculocutaneous albinism type IA An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. url:https://www.ncbi.nlm.nih.gov/pubmed/8477259 OCA1A An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. MESH:C537729 MIM:606952 Albinism, Yellow Mutant Type OCA1B disease_ontology DOID:0070095 oculocutaneous albinism type IB An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. url:https://www.ncbi.nlm.nih.gov/pubmed/18925668 OCA1B An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. GARD:4038 MESH:C537730 MIM:203200 OCA2 Oculocutaneous Albinism, Tyrosinase-Positive disease_ontology DOID:0070096 oculocutaneous albinism type II An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. url:https://www.ncbi.nlm.nih.gov/pubmed/18680187 OCA2 An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23. GARD:4039 MIM:203290 OCA3 Rufous Oculocutaneous Albinism disease_ontology DOID:0070097 oculocutaneous albinism type III An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23. url:https://www.ncbi.nlm.nih.gov/pubmed/9345097 OCA3 An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2. MIM:606574 OCA4 disease_ontology DOID:0070098 oculocutaneous albinism type IV An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/14722913 OCA4 An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24. MIM:615312 OCA5 disease_ontology DOID:0070099 oculocutaneous albinism type V An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24. url:https://www.ncbi.nlm.nih.gov/pubmed/23050561 OCA5 An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3. MIM:615179 OCA7 disease_ontology DOID:0070100 oculocutaneous albinism type VII An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/23395477 OCA7 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the PTPN11 gene on chromosome 12q24.13. disease_ontology DOID:0070101 obsolete Noonan syndrome 1 true A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the PTPN11 gene on chromosome 12q24.13. url:https://www.ncbi.nlm.nih.gov/pubmed/11704759 A Noonan syndrome that has_material_basis_in an autosomal recessive mutation. disease_ontology DOID:0070102 obsolete Noonan syndrome 2 true A Noonan syndrome that has_material_basis_in an autosomal recessive mutation. url:https://www.ncbi.nlm.nih.gov/pubmed/5782826 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the KRAS gene on chromosome 12p12.1. disease_ontology DOID:0070103 obsolete Noonan syndrome 3 true A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the KRAS gene on chromosome 12p12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16474405 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS1 gene on chromosome 2p22.1. disease_ontology DOID:0070104 obsolete Noonan syndrome 4 true A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS1 gene on chromosome 2p22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17143285 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RAF1 gene on chromosome 3p25.2. disease_ontology DOID:0070105 obsolete Noonan syndrome 5 true A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RAF1 gene on chromosome 3p25.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17603483 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the NRAS gene on chromosome 1p13.2. disease_ontology DOID:0070106 obsolete Noonan syndrome 6 true A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the NRAS gene on chromosome 1p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/19966803 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the BRAF gene on chromosome 7q34. disease_ontology DOID:0070107 obsolete Noonan syndrome 7 true A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the BRAF gene on chromosome 7q34. url:https://www.ncbi.nlm.nih.gov/pubmed/19206169 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RIT1 gene on chromosome 1q22. disease_ontology DOID:0070108 obsolete Noonan syndrome 8 true A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RIT1 gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/23791108 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS2 gene on chromosome 14q21.3. NS9 disease_ontology DOID:0070109 obsolete Noonan syndrome 9 true A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS2 gene on chromosome 14q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25795793 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the LZTR1 gene on chromosome 22q11.21. disease_ontology DOID:0070110 obsolete Noonan syndrome 10 true A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the LZTR1 gene on chromosome 22q11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/25795793 A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. GARD:7206 ICD10CM:E75.2 MIM:257200 disease_ontology DOID:0070111 Niemann-Pick disease type A A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. url:https://www.ncbi.nlm.nih.gov/pubmed/13696518 url:https://www.ncbi.nlm.nih.gov/pubmed/19405096 A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. GARD:10729 ICD10CM:E75.2 MIM:607616 disease_ontology DOID:0070112 Niemann-Pick disease type B A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. url:https://www.ncbi.nlm.nih.gov/pubmed/12369017 url:https://www.ncbi.nlm.nih.gov/pubmed/13696518 A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. GARD:7207 ICD10CM:E75.2 MIM:257220 NPC1 disease_ontology DOID:0070113 Niemann-Pick disease type C1 A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/11182931 NPC1 A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. GARD:3992 ICD10CM:E75.2 MIM:607625 NPC2 disease_ontology DOID:0070114 Niemann-Pick disease type C2 A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17470133 NPC2 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22. ICD10CM:Q61.9 MIM:249000 MKS1 Meckel-Gruber syndrome, type 1 disease_ontology DOID:0070115 Meckel syndrome 1 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22. url:https://www.ncbi.nlm.nih.gov/pubmed/16415886 MKS1 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. ICD10CM:Q61.9 MIM:603194 MKS2 Meckel-Gruber syndrome, type 2 disease_ontology DOID:0070116 Meckel syndrome 2 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/20512146 MKS2 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. ICD10CM:Q61.9 MIM:607361 MKS3 Meckel-Gruber syndrome, type 3 disease_ontology DOID:0070117 Meckel syndrome 3 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16415887 MKS3 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. ICD10CM:Q61.9 MIM:611134 MKS4 Meckel-Gruber syndrome, type 4 disease_ontology DOID:0070118 Meckel syndrome 4 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. url:https://www.ncbi.nlm.nih.gov/pubmed/17564974 MKS4 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. ICD10CM:Q61.9 MIM:611561 MKS5 Meckel-Gruber syndrome, type 5 disease_ontology DOID:0070119 Meckel syndrome 5 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17558409 MKS5 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32. ICD10CM:Q61.9 MIM:612284 MKS6 Meckel-Gruber syndrome, type 6 disease_ontology DOID:0070120 Meckel syndrome 6 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32. url:https://www.ncbi.nlm.nih.gov/pubmed/18513680 MKS6 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. MESH:C537756 MIM:267010 ORDO:3032 SNOMEDCT_US_2023_03_01:773737004 UMLS_CUI:C2673885 MKS7 Meckel-Gruber syndrome, type 7 disease_ontology DOID:0070121 Meckel syndrome 7 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18371931 MKS7 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. ICD10CM:Q61.9 MIM:613885 ORDO:90674 MKS8 Meckel-Gruber syndrome, type 8 disease_ontology DOID:0070122 Meckel syndrome 8 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. url:https://www.ncbi.nlm.nih.gov/pubmed/21462283 MKS8 A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. ICD10CM:E03.1 MIM:275100 CHNG4 isolated thyrotropin deficiency disease_ontology DOID:0070123 congenital nongoitrous hypothyroidism 4 A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/2792087 CHNG4 A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. ICD10CM:E03.1 MIM:218700 CHNG2 congenital hypothyroidism due to thyroid dysgenesis or hypoplasia disease_ontology DOID:0070124 congenital nongoitrous hypothyroidism 2 A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9590296 CHNG2 A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. ICD10CM:E03.1 MIM:225250 ORDO:90673 CHNG5 disease_ontology DOID:0070125 congenital nongoitrous hypothyroidism 5 A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. url:https://www.ncbi.nlm.nih.gov/pubmed/16418214 CHNG5 A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. ICD10CM:E03.1 MIM:275200 CHNG1 TSH resistance disease_ontology DOID:0070126 congenital nongoitrous hypothyroidism 1 A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. url:https://www.ncbi.nlm.nih.gov/pubmed/8954020 CHNG1 A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1. ICD10CM:E03.1 MIM:609893 CHNG3 disease_ontology DOID:0070127 congenital nongoitrous hypothyroidism 3 A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15870119 url:https://www.ncbi.nlm.nih.gov/pubmed/8976668 CHNG3 A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. ICD10CM:E03.1 MIM:614450 CHNG6 disease_ontology DOID:0070128 congenital nongoitrous hypothyroidism 6 A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/22168587 CHNG6 An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. ICD10CM:Q82.8 MIM:617403 ARCL2D disease_ontology DOID:0070129 autosomal recessive cutis laxa type IID An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. url:https://www.ncbi.nlm.nih.gov/pubmed/28065471 ARCL2D An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11. ICD10CM:Q82.8 MIM:123700 ADCL1 disease_ontology DOID:0070130 autosomal dominant cutis laxa 1 An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11. url:https://www.ncbi.nlm.nih.gov/pubmed/9580666 url:https://www.ncbi.nlm.nih.gov/pubmed/9873040 ADCL1 An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. ICD10CM:Q82.8 MIM:616603 ADCL3 disease_ontology DOID:0070131 autosomal dominant cutis laxa 3 An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/26320891 ADCL3 A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. ICD10CM:Q82.8 MIM:219150 ORDO:35664 ARCL3A De Barsy syndrome A disease_ontology DOID:0070132 autosomal recessive cutis laxa type IIIA A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/11092761 ARCL3A An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. ICD10CM:Q82.8 MIM:614437 ARCL1B disease_ontology DOID:0070133 autosomal recessive cutis laxa type IB An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/16685658 url:https://www.ncbi.nlm.nih.gov/pubmed/19664000 ARCL1B An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. ICD10CM:Q82.8 MIM:219200 ARCL2A disease_ontology DOID:0070134 autosomal recessive cutis laxa type IIA An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/18157129 url:https://www.ncbi.nlm.nih.gov/pubmed/19401719 ARCL2A An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. ICD10CM:Q82.8 MIM:219100 ARCL1A disease_ontology DOID:0070135 autosomal recessive cutis laxa type IA An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/12189163 ARCL1A An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32. ICD10CM:Q82.8 MIM:614434 ADCL2 disease_ontology DOID:0070136 autosomal dominant cutis laxa 2 An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/12618961 ADCL2 A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. ICD10CM:Q82.8 MIM:612940 ORDO:357064 ARCL2, progeroid type ARCL2B disease_ontology DOID:0070137 autosomal recessive cutis laxa type IIB A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19576563 ARCL2B An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. ICD10CM:Q82.8 MIM:614438 ARCL3B De Barsy syndrome B disease_ontology DOID:0070138 autosomal recessive cutis laxa type IIIB An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. url:https://www.ncbi.nlm.nih.gov/pubmed/19648921 ARCL3B A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. MESH:C567716 MIM:613177 ORDO:221145 SNOMEDCT_US_2023_03_01:784349004 UMLS_CUI:C2750804 ARCL1C autosomal recessive cutis laxa type 1C disease_ontology DOID:0070139 autosomal recessive cutis laxa type IC A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/19836010 ARCL1C An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. ICD10CM:Q82.8 MIM:617402 disease_ontology DOID:0070140 autosomal recessive cutis laxa type IIC An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. url:https://www.ncbi.nlm.nih.gov/pubmed/28065471 A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. ICD10CM:Q82.8 ORDO:357074 ARCL2, Debre type ARCL2, classic type disease_ontology DOID:0070141 autosomal recessive cutis laxa type II classic type A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. url:https://www.ncbi.nlm.nih.gov/pubmed/28065471 A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity. ICD10CM:Q82.8 ORDO:90348 ADCL disease_ontology DOID:0070142 autosomal dominant cutis laxa A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity. url:https://www.ncbi.nlm.nih.gov/pubmed/18348261 ADCL A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. GARD:49 MESH:C535990 ORDO:2962 SNOMEDCT_US_2023_03_01:238826008 UMLS_CUI:C0268354 De Barsy syndrome cutis laxa-corneal clouding-intellectual disability syndrome disease_ontology DOID:0070143 autosomal recessive cutis laxa type III A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. url:https://www.ncbi.nlm.nih.gov/pubmed/18388779 A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems. GARD:8480 MESH:C562628 ORDO:90439 SNOMEDCT_US_2023_03_01:254222002 UMLS_CUI:C0268351 UMLS_CUI:C0432336 autosomal recessive cutis laxa type 1 disease_ontology DOID:0070144 autosomal recessive cutis laxa type I A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems. url:https://www.ncbi.nlm.nih.gov/pubmed/19401719 A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. GARD:12328 MESH:D000699 MESH:D009477 MIM:608654 NCI:C156360 ORDO:608654 SNOMEDCT_US_2023_03_01:128206006 SNOMEDCT_US_2023_03_01:403605007 UMLS_CUI:C0002768 UMLS_CUI:C0020075 HSAN5 hereditary sensory and autonomic neuropathy type V disease_ontology DOID:0070145 hereditary sensory and autonomic neuropathy type 5 A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/14976160 url:https://www.ncbi.nlm.nih.gov/pubmed/77656 HSAN5 A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. GARD:3006 MESH:D009477 MIM:256800 NCI:C118633 ORDO:642 SNOMEDCT_US_2023_03_01:62985007 UMLS_CUI:C0020074 hereditary sensory neuropathy type IV insensitivity to pain, congenital, with anhidrosis disease_ontology DOID:0070146 hereditary sensory neuropathy type 4 A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. url:https://www.ncbi.nlm.nih.gov/pubmed/14272277 url:https://www.ncbi.nlm.nih.gov/pubmed/8696348 A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. MIM:614213 HSN2C hereditary sensory neuropathy type IIC disease_ontology DOID:0070147 hereditary sensory neuropathy type 2C A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/21820098 HSN2C A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22. MESH:C564296 MIM:608088 ORDO:139564 SNOMEDCT_US_2023_03_01:717825008 UMLS_CUI:C1842586 HSAN with cough and gastroesophageal reflux hereditary sensory neuropathy type IB disease_ontology DOID:0070148 hereditary sensory neuropathy type 1B A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22. url:https://www.ncbi.nlm.nih.gov/pubmed/12870133 url:https://www.ncbi.nlm.nih.gov/pubmed/16311270 A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. GARD:12723 ICD10CM:G60.8 MIM:615548 ORDO:391397 HSAN7 hereditary sensory and autonomic neuropathy type VII disease_ontology DOID:0070149 hereditary sensory and autonomic neuropathy type 7 A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. url:https://www.ncbi.nlm.nih.gov/pubmed/24036948 HSAN7 A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15. MIM:613115 HSAN2B hereditary sensory and autonomic neuropathy type IIB disease_ontology DOID:0070150 hereditary sensory and autonomic neuropathy type 2B A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15. url:https://www.ncbi.nlm.nih.gov/pubmed/19838196 url:https://www.ncbi.nlm.nih.gov/pubmed/24327336 HSAN2B A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12. ICD10CM:G60.8 MIM:614653 ORDO:314381 HSAN6 hereditary sensory and autonomic neuropathy type VI disease_ontology DOID:0070151 hereditary sensory and autonomic neuropathy type 6 A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12. url:https://www.ncbi.nlm.nih.gov/pubmed/22522446 HSAN6 A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. MIM:162400 HSAN1A hereditary sensory and autonomic neuropathy type IA disease_ontology DOID:0070152 hereditary sensory and autonomic neuropathy type 1A A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/11242114 HSAN1A A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34. MIM:616488 ORDO:478664 HSAN8 hereditary sensory and autonomic neuropathy type VIII disease_ontology DOID:0070153 hereditary sensory and autonomic neuropathy type 8 A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/26005867 HSAN8 A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. MIM:615632 HSN1F hereditary sensory neuropathy type IF disease_ontology DOID:0070154 hereditary sensory neuropathy type 1F A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/24459106 HSN1F A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. MIM:201300 HSAN2A hereditary sensory and autonomic neuropathy type IIA disease_ontology DOID:0070155 hereditary sensory and autonomic neuropathy type 2A A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/14152533 url:https://www.ncbi.nlm.nih.gov/pubmed/15060842 HSAN2A A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q. MIM:613708 HSN1D disease_ontology DOID:0070156 hereditary sensory neuropathy type 1D A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q. url:https://www.ncbi.nlm.nih.gov/pubmed/21194679 HSN1D A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. MIM:613640 HSAN1C hereditary sensory and autonomic neuropathy type IC disease_ontology DOID:0070157 hereditary sensory and autonomic neuropathy type 1C A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. url:https://www.ncbi.nlm.nih.gov/pubmed/20920666 HSAN1C A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13. GARD:11927 ICD10CM:G60.8 MIM:614116 ORDO:456318 HSN1E hereditary sensory neuropathy type IE disease_ontology DOID:0070158 hereditary sensory neuropathy type 1E A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/21532572 HSN1E A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. MIM:310470 disease_ontology DOID:0070159 hereditary sensory neuropathy X-linked A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. url:https://www.ncbi.nlm.nih.gov/pubmed/3866836 A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. MIM:256860 disease_ontology DOID:0070160 atypical hereditary sensory neuropathy A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. url:https://www.ncbi.nlm.nih.gov/pubmed/191348 A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood. GARD:3976 MESH:D002607 MESH:D009477 ORDO:970 SNOMEDCT_US_2023_03_01:30508001 UMLS_CUI:C0020072 UMLS_CUI:C0270914 HSAN2 hereditary sensory and autonomic neuropathy type II disease_ontology DOID:0070161 hereditary sensory and autonomic neuropathy type 2 A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/21089229 HSAN2 A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. GARD:6635 MESH:D009477 NCI:C170433 ORDO:36386 SNOMEDCT_US_2023_03_01:52647008 UMLS_CUI:C0020071 HSAN1 hereditary sensory and autonomic neuropathy type I disease_ontology DOID:0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/18348718 HSAN1 A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22. MIM:617644 disease_ontology DOID:0070163 spermatogenic failure 21 A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22. url:https://www.ncbi.nlm.nih.gov/pubmed/28199965 A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the MSH4 gene on chromosome 1p31. MIM:108420 SPGF2 disease_ontology DOID:0070164 spermatogenic failure 2 A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the MSH4 gene on chromosome 1p31. url:https://www.ncbi.nlm.nih.gov/pubmed/15367911 SPGF2 A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21. MIM:617576 SPGF18 disease_ontology DOID:0070165 spermatogenic failure 18 A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/24360805 SPGF18 A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13. MIM:617593 SPGF20 disease_ontology DOID:0070166 spermatogenic failure 20 A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13. url:https://www.ncbi.nlm.nih.gov/pubmed/28552195 SPGF20 A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26. MESH:D000072660 MIM:102530 NCI:C158500 SPGF6 disease_ontology DOID:0070167 spermatogenic failure 6 A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26. url:https://www.ncbi.nlm.nih.gov/pubmed/17847006 SPGF6 A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21. MIM:606766 SPGF3 disease_ontology DOID:0070168 spermatogenic failure 3 A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/23582645 SPGF3 A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. MIM:613957 SPGF8 disease_ontology DOID:0070169 spermatogenic failure 8 A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. url:https://www.ncbi.nlm.nih.gov/pubmed/20887963 SPGF8 A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25. MIM:617592 SPGF19 disease_ontology DOID:0070170 spermatogenic failure 19 A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25. url:https://www.ncbi.nlm.nih.gov/pubmed/28552195 SPGF19 A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26. MIM:615413 SPGF12 disease_ontology DOID:0070171 spermatogenic failure 12 A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26. url:https://www.ncbi.nlm.nih.gov/pubmed/23315541 SPGF12 A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26. MIM:616950 SPGF15 disease_ontology DOID:0070172 spermatogenic failure 15 A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26. url:https://www.ncbi.nlm.nih.gov/pubmed/25899990 SPGF15 A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13. MESH:C567832 MIM:612997 SPGF7 disease_ontology DOID:0070173 spermatogenic failure 7 A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/19344877 SPGF7 A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12. MIM:617214 Male infertility due to oocyte activation failure SPGF17 disease_ontology DOID:0070174 spermatogenic failure 17 A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12. url:https://www.ncbi.nlm.nih.gov/pubmed/26721930 SPGF17 disease_ontology DOID:0070175 obsolete spermatogenic failure 9 true A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23. MIM:270960 SPGF4 disease_ontology DOID:0070176 spermatogenic failure 4 A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23. url:https://www.ncbi.nlm.nih.gov/pubmed/14643120 SPGF4 A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13. MIM:617706 SPGF22 disease_ontology DOID:0070177 spermatogenic failure 22 A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/28206990 SPGF22 A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13. MIM:614822 SPGF10 Spermatogenic failure with defective sperm annulus disease_ontology DOID:0070178 spermatogenic failure 10 A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/22275165 SPGF10 A spermatogenic failure that is characterized by autosomal recessive inheritance of a maturation arrest in the spermatid stage of development that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13. MIM:615842 SPGF14 disease_ontology DOID:0070179 spermatogenic failure 14 A spermatogenic failure that is characterized by autosomal recessive inheritance of a maturation arrest in the spermatid stage of development that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/24431330 SPGF14 A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21. MIM:615081 SPGF11 disease_ontology DOID:0070180 spermatogenic failure 11 A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21. url:https://www.ncbi.nlm.nih.gov/pubmed/17047026 SPGF11 A spermatogenic failure that is characterized by autosomal recessive inheritance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23. MIM:617707 SPGF23 disease_ontology DOID:0070181 spermatogenic failure 23 A spermatogenic failure that is characterized by autosomal recessive inheritance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23. url:https://www.ncbi.nlm.nih.gov/pubmed/28206990 SPGF23 A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11. MIM:615841 SPGF13 disease_ontology DOID:0070182 spermatogenic failure 13 A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11. url:https://www.ncbi.nlm.nih.gov/pubmed/24431330 SPGF13 A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. GARD:12385 MESH:C562903 MIM:243060 ORDO:137893 SNOMEDCT_US_2021_09_01:236806004 Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid SPGF5 infertility associated with multitailed spermatozoa and excessive DNA macrocephalic sperm head syndrome male infertility due to macrozoospermia male infertility with large-headed, multiflagellar, polyploid spermatozoa disease_ontology DOID:0070183 spermatogenic failure 5 A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/17435757 SPGF5 A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11. MIM:617187 SPGF16 acephalic spermatozoa syndrome disease_ontology DOID:0070184 spermatogenic failure 16 A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11. url:https://www.ncbi.nlm.nih.gov/pubmed/27640305 SPGF16 A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. MIM:309120 SPGFX2 disease_ontology DOID:0070185 X-linked spermatogenic failure 2 A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. url:https://www.ncbi.nlm.nih.gov/pubmed/25970010 SPGFX2 A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region. MIM:400042 SPGFY1 Y-linked Sertoli cell-only syndrome type I Sertoli cell-only syndrome disease_ontology DOID:0070186 Y-linked spermatogenic failure 1 A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region. url:https://www.ncbi.nlm.nih.gov/pubmed/2603934 SPGFY1 A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. MESH:C564030 MIM:415000 SPGFY2 nonobstructive Y-linked spermatogenic failure disease_ontology DOID:0070187 Y-linked spermatogenic failure 2 A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. url:https://www.ncbi.nlm.nih.gov/pubmed/19737515 SPGFY2 A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects. MIM:258150 SPGF1 oligochiasmatic infertility oligosynaptic infertility disease_ontology DOID:0070188 spermatogenic failure 1 A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects. url:https://www.ncbi.nlm.nih.gov/pubmed/7446525 SPGF1 A Sertoli cell-only syndrome characterized by X-linked inheritance. MIM:305700 SPGFX1 disease_ontology DOID:0070189 X-linked spermatogenic failure 1 A Sertoli cell-only syndrome characterized by X-linked inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/10507722 SPGFX1 A chronic granulomatous disease characterized by autosomal dominant inheritance. disease_ontology DOID:0070190 OMIM merged into X-linked chronic granulomatous disease[LS] obsolete autosomal dominant chronic granulomatous disease true A chronic granulomatous disease characterized by autosomal dominant inheritance. url:http://www.omim.org/entry/138990 A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. MIM:233710 CDG2 autosomal recessive chronic granulomatous disease cytochrome b-positive type II chronic granulomatous disease due to deficiency of NCF-2 deficiency of NCF2 deficiency of p67-PHOX disease_ontology DOID:0070191 autosomal recessive chronic granulomatous disease 2 A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. url:https://www.ncbi.nlm.nih.gov/pubmed/7795241 CDG2 A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. MIM:233700 CDG1 autosomal recessive chronic granulomatous disease cytochrome b-positive type I chronic granulomatous disease due to deficiency of NCF-1 deficiency of NCF1 deficiency of SOC2 deficiency of neutrophil cytosol factor 1 deficiency of p47-PHOX deficiency of soluble oxidase component II disease_ontology DOID:0070192 autosomal recessive chronic granulomatous disease 1 A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/2770793 CDG1 A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. MIM:233690 CGD due to deficiency of the alpha subunit of cytochrome b CYBA deficiency autosomal recessive chronic granulomatous disease cytochrome b-negative autosomal recessive cytochrome b-negative CGD chronic granulomatous disease due to deficiency of CYBA disease_ontology DOID:0070193 autosomal recessive chronic granulomatous disease 4 A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/2770793 A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. MIM:613960 CDG3 autosomal recessive chronic granulomatous disease cytochrome b-positive type III autosomal recessive cytochrome b-positive CGD type III chronic granulomatous disease due to NCF4 deficiency disease_ontology DOID:0070194 autosomal recessive chronic granulomatous disease 3 A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. url:https://www.ncbi.nlm.nih.gov/pubmed/19692703 CDG3 A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4. DOID:0070190 MIM:306400 CDGX X-linked chronic cytochrome b-negative granulomatous disease disease_ontology DOID:0070195 X-linked chronic granulomatous disease A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4. url:https://www.ncbi.nlm.nih.gov/pubmed/4039107 CDGX A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development. MIM:160300 disease_ontology DOID:0070196 infantile-onset distal myopathy A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development. url:https://www.ncbi.nlm.nih.gov/pubmed/5834698 A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. GARD:10769 MIM:160500 ORDO:59135 Distal myopathy type 1 Gowers disease Laing distal myopathy Laing early-onset distal myopathy MPD1 disease_ontology DOID:0070197 distal myopathy 1 A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15322983 url:https://www.ncbi.nlm.nih.gov/pubmed/7847377 MPD1 A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. GARD:9676 MESH:C537480 MIM:PS254130 ORDO:45448 Miyoshi myopathy disease_ontology DOID:0070198 Miyoshi muscular dystrophy A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. url:https://www.ncbi.nlm.nih.gov/pubmed/3942856 A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13. MIM:254130 MMD1 Miyoshi myopathy 1 disease_ontology DOID:0070199 Miyoshi muscular dystrophy 1 A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13. url:https://www.ncbi.nlm.nih.gov/pubmed/9731526 MMD1 A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10. MESH:C567646 MIM:613318 MMD2 Miyoshi myopathy 2 disease_ontology DOID:0070200 Miyoshi muscular dystrophy 2 A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10. url:https://www.ncbi.nlm.nih.gov/pubmed/9673985 MMD2 A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14. MESH:C567645 MIM:613319 MMD3 Miyoshi myopathy 3 disease_ontology DOID:0070201 Miyoshi muscular dystrophy 3 A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14. url:https://www.ncbi.nlm.nih.gov/pubmed/20096397 MMD3 A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. GARD:3126 MESH:D052496 MIM:151660 NCI:C165527 ORDO:2348 SNOMEDCT_US_2023_03_01:715439000 UMLS_CUI:C1720860 FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy disease_ontology DOID:0070202 familial partial lipodystrophy type 2 A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/10587585 url:https://www.ncbi.nlm.nih.gov/pubmed/170190 FPLD2 A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. MIM:615238 ORDO:435651 CIDEC-related FPLD FPLD5 familial partial lipodystrophy associated with CIDEC mutations disease_ontology DOID:0070203 familial partial lipodystrophy type 5 A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/pubmed/20049731 FPLD5 A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. GARD:12600 MESH:D052496 MIM:604367 ORDO:79083 SNOMEDCT_US_2023_03_01:1197745002 UMLS_CUI:C1720861 FPLD3 PPARG-related FPLD PPARG-related familial partial lipodystrophy familial partial lipodystrophy associated with PPARG mutations disease_ontology DOID:0070204 familial partial lipodystrophy type 3 A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/pubmed/10622252 FPLD3 A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. GARD:12601 MIM:613877 ORDO:280356 FPLD4 PLIN1-related FPLD PLIN1-related familial partial lipodystrophy familial partial lipodystrophy associated with PLIN1 mutations disease_ontology DOID:0070205 familial partial lipodystrophy type 4 A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. url:https://www.ncbi.nlm.nih.gov/pubmed/21345103 FPLD4 A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. MIM:615980 ORDO:435660 FPLD6 LIPE-related FPLD LIPE-related familial partial lipodystrophy familial partial lipodystrophy associated with LIPE mutations disease_ontology DOID:0070206 familial partial lipodystrophy type 6 A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/24848981 FPLD6 A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body. GARD:12598 MESH:D052496 MIM:608600 ORDO:79084 SNOMEDCT_US_2023_03_01:725035001 UMLS_CUI:C1720859 FPLD1 familial partial lipodystrophy Kobberling type disease_ontology DOID:0070207 familial partial lipodystrophy type 1 A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body. url:https://www.ncbi.nlm.nih.gov/pubmed/3712389 FPLD1 A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. MIM:613480 LMPH1C disease_ontology DOID:0070208 hereditary lymphedema IC A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/20537300 LMPH1C A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34. MIM:615907 LMPH1D disease_ontology DOID:0070209 hereditary lymphedema ID A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34. url:https://www.ncbi.nlm.nih.gov/pubmed/23410910 LMPH1D A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35. MIM:153100 LMPH1A disease_ontology DOID:0070210 hereditary lymphedema IA A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35. url:https://www.ncbi.nlm.nih.gov/pubmed/10835628 url:https://www.ncbi.nlm.nih.gov/pubmed/9817924 LMPH1A A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1. MIM:611944 LMPH1B disease_ontology DOID:0070211 hereditary lymphedema IB A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18193458 LMPH1B A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. GARD:7220 ICD10CM:Q82.0 MESH:D008209 NCI:C48829 ORDO:79452 SNOMEDCT_US_2023_03_01:268355000 UMLS_CUI:C1704423 LMPH1 Milroy disease Nonne-Milroy lymphedema PCL congenital primary lymphedema hereditary lymphedema type I disease_ontology DOID:0070212 hereditary lymphedema I A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/9817924 LMPH1 PCL A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance. GARD:3324 ICD10CM:I89.0 MESH:C562467 MIM:153200 ORDO:90186 SNOMEDCT_US_2023_03_01:234098006 SNOMEDCT_US_2023_03_01:400040008 UMLS_CUI:C0238261 UMLS_CUI:C1704424 LMPH2 Meige disease Meige lymphedema late-onset lymphedema lymphedema preacox disease_ontology DOID:0070213 hereditary lymphedema II A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/6342849 LMPH2 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. GARD:9932 MESH:C538376 MIM:610021 NCI:C131839 ORDO:165991 SNOMEDCT_US_2023_03_01:715830008 UMLS_CUI:C1864902 EIHI HHF7 exercise-induced hyperinsulinemic hypoglycemia exercise-induced hyperinsulinism hyperinsulinism due to SLC16A1 deficiency hyperinsulinism due to monocarboxylate transporter 1 deficiency disease_ontology DOID:0070214 familial hyperinsulinemic hypoglycemia 7 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17701893 EIHI HHF7 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. GARD:2819 MIM:609975 ORDO:71212 HHF4 hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency disease_ontology DOID:0070215 familial hyperinsulinemic hypoglycemia 4 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. url:https://www.ncbi.nlm.nih.gov/pubmed/11489939 HHF4 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. GARD:2818 MIM:602485 ORDO:79299 HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency disease_ontology DOID:0070216 familial hyperinsulinemic hypoglycemia 3 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11916951 url:https://www.ncbi.nlm.nih.gov/pubmed/9435328 HHF3 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. GARD:9931 MIM:606762 ORDO:35878 HHF6 HI/HA syndrome hyperinsulinism-hyperammonemia syndrome disease_ontology DOID:0070217 familial hyperinsulinemic hypoglycemia 6 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/8769351 url:https://www.ncbi.nlm.nih.gov/pubmed/9571255 HHF6 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. MIM:601820 Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia disease_ontology DOID:0070218 familial hyperinsulinemic hypoglycemia 2 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. url:https://www.ncbi.nlm.nih.gov/pubmed/8923010 url:https://www.ncbi.nlm.nih.gov/pubmed/9356020 HHF2 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. MIM:256450 HHF1 disease_ontology DOID:0070219 familial hyperinsulinemic hypoglycemia 1 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/7005072 url:https://www.ncbi.nlm.nih.gov/pubmed/7716548 url:https://www.ncbi.nlm.nih.gov/pubmed/8545179 HHF1 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. MIM:609968 ORDO:263458 HHF5 hyperinsulinemic hypoglycemia due to INSR deficiency hyperinsulinemic hypoglycemia due to insulin receptor deficiency hyperinsulinism due to INSR deficiency disease_ontology DOID:0070220 familial hyperinsulinemic hypoglycemia 5 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/15161766 HHF5 An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. MIM:PS211600 NCI:C84453 ORDO:172 SNOMEDCT_US_2023_03_01:74162007 UMLS_CUI:C0268312 Byler disease PFIC disease_ontology DOID:0070221 progressive familial intrahepatic cholestasis An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. url:https://www.ncbi.nlm.nih.gov/pubmed/15239083 url:https://www.ncbi.nlm.nih.gov/pubmed/8014759 PFIC A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. GARD:1288 MESH:C535934 MIM:601847 ORDO:79304 SNOMEDCT_US_2023_03_01:1155841005 UMLS_CUI:C3489789 BSEP deficiency PFIC2 disease_ontology DOID:0070222 progressive familial intrahepatic cholestasis 2 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/9806540 PFIC2 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. GARD:1289 MESH:C535935 MIM:602347 ORDO:79305 SNOMEDCT_US_2023_03_01:1186865008 UMLS_CUI:C1865643 MDR3 deficiency PFIC3 progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase disease_ontology DOID:0070223 progressive familial intrahepatic cholestasis 3 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. url:https://www.ncbi.nlm.nih.gov/pubmed/9419367 PFIC3 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. MIM:615878 ORDO:480483 PFIC4 TJP2 deficit disease_ontology DOID:0070224 progressive familial intrahepatic cholestasis 4 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. url:https://www.ncbi.nlm.nih.gov/pubmed/24614073 PFIC4 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. MIM:617049 ORDO:480476 NR1H4 deficiency PFIC5 disease_ontology DOID:0070225 progressive familial intrahepatic cholestasis 5 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. url:https://www.ncbi.nlm.nih.gov/pubmed/26888176 PFIC5 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. GARD:9802 MESH:C535933 MIM:211600 ORDO:79306 FIC1 deficiency PFIC1 disease_ontology DOID:0070226 progressive familial intrahepatic cholestasis 1 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. url:https://www.ncbi.nlm.nih.gov/pubmed/9500542 PFIC1 An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. GARD:9804 MESH:C535932 ORDO:69665 ICP gravidic intrahepatic cholestasis pregnancy related cholestasis recurrent intrahepatic cholestasis of pregnancy disease_ontology DOID:0070227 intrahepatic cholestasis of pregnancy An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. url:https://www.ncbi.nlm.nih.gov/pubmed/27936482 ICP An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. MIM:147480 ICP1 pregnancy related cholestasis 1 disease_ontology DOID:0070228 intrahepatic cholestasis of pregnancy 1 An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. url:https://www.ncbi.nlm.nih.gov/pubmed/15888793 ICP1 An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21. MIM:614972 ICP3 pregnancy related cholestasis 3 disease_ontology DOID:0070229 intrahepatic cholestasis of pregnancy 3 An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21. url:https://www.ncbi.nlm.nih.gov/pubmed/9419367 ICP3 An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. GARD:12185 MIM:PS243300 NCI:C84402 ORDO:65682 SNOMEDCT_US_2021_09_01:31155007 BRIC Summerskill-Walshe-Tygstrup syndrome disease_ontology DOID:0070230 benign recurrent intrahepatic cholestasis An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. url:https://www.ncbi.nlm.nih.gov/pubmed/23402083 BRIC A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. GARD:10028 MIM:243300 ORDO:99960 BRIC type 1 BRIC1 Summerskill syndrome disease_ontology DOID:0070231 benign recurrent intrahepatic cholestasis 1 A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. url:https://www.ncbi.nlm.nih.gov/pubmed/9500542 BRIC1 A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. GARD:10029 MESH:C535934 MIM:605479 ORDO:99961 BRIC type 2 BRIC2 disease_ontology DOID:0070232 benign recurrent intrahepatic cholestasis 2 A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/15300568 BRIC2 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. MIM:614816 Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations LDS4 disease_ontology DOID:0070233 Loeys-Dietz syndrome 4 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. url:https://www.ncbi.nlm.nih.gov/pubmed/22772368 LDS4 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. MIM:610168 AAT3 LDS2 Marfan syndrome type II familial throacic aortic aneurysm 3 disease_ontology DOID:0070234 Loeys-Dietz syndrome 2 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. url:https://www.ncbi.nlm.nih.gov/pubmed/15235604 url:https://www.ncbi.nlm.nih.gov/pubmed/15731757 AAT3 LDS2 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. MIM:609192 AAT5 Furlong syndrome LDS1 familial throacic aortic aneurysm 5 disease_ontology DOID:0070235 Loeys-Dietz syndrome 1 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/15731757 AAT5 LDS1 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. MIM:615582 LDS5 RNHF Reinhoff syndrome disease_ontology DOID:0070236 Loeys-Dietz syndrome 5 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. url:https://www.ncbi.nlm.nih.gov/pubmed/23824657 url:https://www.ncbi.nlm.nih.gov/pubmed/25835445 LDS5 RNHF A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. MIM:613795 LDS1C LDS3 Loeys-Dietz syndrome type 1C Loeys-Dietz syndrome with osteoarthritis aneurysms-osteoarthritis syndrome disease_ontology DOID:0070237 Loeys-Dietz syndrome 3 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. url:https://www.ncbi.nlm.nih.gov/pubmed/21217753 LDS1C LDS3 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. MIM:607426 COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1 disease_ontology DOID:0070238 primary coenzyme Q10 deficiency 1 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. url:https://www.ncbi.nlm.nih.gov/pubmed/19375058 COQ10D1 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. MIM:614651 ORDO:254898 COQ10D2 coenzyme Q10 deficiency, primary, 2 deafness-encephaloneuropathy-obesity-valvulopathy syndrome hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome disease_ontology DOID:0070239 primary coenzyme Q10 deficiency 2 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17332895 COQ10D2 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. MIM:614652 COQ10D3 coenzyme Q10 deficiency, primary, 3 disease_ontology DOID:0070240 primary coenzyme Q10 deficiency 3 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/17186472 COQ10D3 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. GARD:10294 MIM:612016 ORDO:139485 COQ10D4 SCAR9 coenzyme Q10 deficiency, primary, 4 spinocerebellar ataxia, autosomal recessive 9 disease_ontology DOID:0070241 primary coenzyme Q10 deficiency 4 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. url:https://www.ncbi.nlm.nih.gov/pubmed/18319072 COQ10D4 SCAR9 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. MIM:614654 ORDO:319678 COQ10D5 coenzyme Q10 deficiency, primary, 5 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome disease_ontology DOID:0070242 primary coenzyme Q10 deficiency 5 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. url:https://www.ncbi.nlm.nih.gov/pubmed/19375058 COQ10D5 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. MIM:614650 ORDO:280406 COQ10D6 coenzyme Q10 deficiency, primary, 6 familial steroid-resistant nephrotic syndrome with sensorineural deafness disease_ontology DOID:0070243 primary coenzyme Q10 deficiency 6 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21540551 COQ10D6 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. MIM:616276 ORDO:457185 COQ10D7 COQ4-related neonatal encephalomyopathy coenzyme Q10 deficiency, primary, 7 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome disease_ontology DOID:0070244 primary coenzyme Q10 deficiency 7 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. url:https://www.ncbi.nlm.nih.gov/pubmed/25658047 COQ10D7 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. MIM:616733 COQ10D8 coenzyme Q10 deficiency, primary, 8 disease_ontology DOID:0070245 primary coenzyme Q10 deficiency 8 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/26084283 COQ10D8 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. MIM:310300 EDMD1 EMD1 Emery-Dreifuss muscular dystrophy 1, X-linked humeroperoneal neuromuscular disease muscular dystrophy, tardive, Dreifuss-Emery type, with contractures scapuloperoneal syndrome, X-linked disease_ontology DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/8042665 EDMD1 EMD1 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. ICD10CM:G71.0 MIM:181350 ORDO:264 EDMD2 EMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant Hauptmann-Thannhauser muscular dystrophy autosomal dominant limb-girdle muscular dystrophy type 1B muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant scapuloilioperoneal atrophy with cardiopathy disease_ontology DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10080180 url:https://www.ncbi.nlm.nih.gov/pubmed/10814726 url:https://www.ncbi.nlm.nih.gov/pubmed/?term=30055862 EDMD2 EMD2 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. MIM:616516 EDMD3 Emery-Dreifuss muscular dystrophy 3, autosomal recessive disease_ontology DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10739764 EDMD3 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. MIM:612998 EDMD4 Emery-Dreifuss muscular dystrophy 4 with variable features Emery-Dreifuss muscular dystrophy 4, autosomal dominant disease_ontology DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17761684 EDMD4 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. MIM:612999 EDMD5 Emery-Dreifuss muscular dystrophy 5, autosomal dominant disease_ontology DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17761684 EDMD5 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. MIM:300696 EDMD6 Emery-Dreifuss muscular dystrophy 6, X-linked XMPMA myopathy, X-linked, with postural muscle atrophy disease_ontology DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. url:https://www.ncbi.nlm.nih.gov/pubmed/18179888 EDMD6 XMPMA An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. MIM:614302 EDMD7 Emery-Dreifuss muscular dystrophy 7, autosomal dominant disease_ontology DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/21391237 EDMD7 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3. GARD:9828 MESH:C535752 MIM:212066 ORDO:79329 SNOMEDCT_US_2023_03_01:724142005 UMLS_CUI:C2931008 Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth disease_ontology DOID:0070253 congenital disorder of glycosylation type IIa A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/8127054 CDG IIa CDG2A CDGIIa CDGS2 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. GARD:10767 MESH:C565264 MIM:606056 ORDO:79330 SNOMEDCT_US_2023_03_01:725028009 UMLS_CUI:C1853736 CDG IIb CDG2B CDGIIb glucosidase I deficiency disease_ontology DOID:0070254 congenital disorder of glycosylation type IIb A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/10788335 CDG IIb CDG2B CDGIIb A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. GARD:4634 MESH:C535755 MIM:266265 NCI:C4690 ORDO:99843 SNOMEDCT_US_2023_03_01:234583001 UMLS_CUI:C0398739 CDG IIc CDG2C CDGIIc Rambam-Hasharon syndrome disease_ontology DOID:0070255 congenital disorder of glycosylation type IIc A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10590041 CDG IIc CDG2C CDGIIc A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1. GARD:9841 MESH:C535753 MIM:607091 ORDO:79332 SNOMEDCT_US_2023_03_01:725587007 UMLS_CUI:C2931009 CDG IId CDG2D CDGIId disease_ontology DOID:0070256 congenital disorder of glycosylation type IId A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11901181 CDG IId CDG2D CDGIId A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. GARD:9842 MESH:C535754 MIM:608779 ORDO:79333 SNOMEDCT_US_2023_03_01:717773005 UMLS_CUI:C2931010 CDG IIe CDG syndrome type IIe CDG2E CDGIIe COG7-CDG Carbohydrate deficient glycoprotein syndrome type IIe disease_ontology DOID:0070257 congenital disorder of glycosylation type IIe A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15107842 CDG IIe CDG2E CDGIIe COG7-CDG A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. GARD:12409 MESH:C567040 MIM:603585 ORDO:238459 SNOMEDCT_US_2023_03_01:723624008 UMLS_CUI:C1970344 CDG IIf CDG2F CDGIIf CMP-sialic acid transporter deficiency Carbohydrate deficient glycoprotein syndrome type IIf SLC35A1-CDG disease_ontology DOID:0070258 congenital disorder of glycosylation type IIf A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. url:https://www.ncbi.nlm.nih.gov/pubmed/11157507 CDG IIf CDG2F CDGIIf SLC35A1-CDG A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. GARD:10226 MESH:C535756 MIM:611209 ORDO:263508 SNOMEDCT_US_2023_03_01:718750004 UMLS_CUI:C2931011 CDG IIg CDG2G CDGII/COG1 cerebrocostomandibular-like syndrome CDGIIg Carbohydrate deficient glycoprotein syndrome type IIg disease_ontology DOID:0070259 congenital disorder of glycosylation type IIg A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16537452 CDG IIg CDG2G CDGIIg A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. GARD:12411 MESH:C566987 MIM:611182 ORDO:95428 SNOMEDCT_US_2023_03_01:717774004 UMLS_CUI:C1970021 CDG IIh CDG2H CDGIIh COG8-CDG Carbohydrate deficient glycoprotein syndrome type IIh Congenital disorder of glycosylation type 2h disease_ontology DOID:0070260 congenital disorder of glycosylation type IIh A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17220172 CDG IIh CDG2H CDGIIh COG8-CDG A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. GARD:12348 MIM:613612 ORDO:263487 CDG IIi CDG syndrome type IIi CDG2I CDGIIi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type 2i disease_ontology DOID:0070261 congenital disorder of glycosylation type IIi A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19690088 CDG IIi CDG2I CDGIIi COG5-CDG A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1. GARD:12412 MIM:613489 ORDO:263501 CDG IIj CDG syndrome type IIj CDG2J CDGIIj COG4-CDG Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type 2j disease_ontology DOID:0070262 congenital disorder of glycosylation type IIj A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/19494034 CDG IIj CDG2J CDGIIj COG4-CDG A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. GARD:12413 MIM:614727 ORDO:314667 CDG IIk CDG syndrome type IIk CDG2K CDGIIk Carbohydrate deficient glycoprotein syndrome type IIk Congenital disorder of glycosylation type 2k TMEM165-CDG disease_ontology DOID:0070263 congenital disorder of glycosylation type IIk A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. url:https://www.ncbi.nlm.nih.gov/pubmed/22683087 CDG IIk CDG2K CDGIIk TMEM165-CDG A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. GARD:10944 MIM:614576 ORDO:464443 CDG IIl CDG syndrome type IIL CDG2L CDGIIl COG6-CGD Congenital disorder of glycosylation type 2l disease_ontology DOID:0070264 congenital disorder of glycosylation type IIl A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. url:https://www.ncbi.nlm.nih.gov/pubmed/20605848 CDG IIl CDG2L CDGIIl COG6-CGD A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. DOID:0080469 GARD:12403 MIM:300896 ORDO:356961 CDG IIm CDGIIm DEE22 EIEE22 SLC35A2-CDG congenital disorder of glycosylation type 2m developmental and epileptic encephalopathy 22 epileptic encephalopathy, early infantile, 22 disease_ontology DOID:0070265 congenital disorder of glycosylation type IIm A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/23561849 CDG IIm CDGIIm DEE22 EIEE22 SLC35A2-CDG A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. MIM:616721 ORDO:468699 CDG IIn CDG syndrome type IIn CDG2N CDGIIn Carbohydrate deficient glycoprotein syndrome type IIn Congenital disorder of glycosylation type 2n SLC39A8-CDG disease_ontology DOID:0070266 congenital disorder of glycosylation type IIn A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. url:https://www.ncbi.nlm.nih.gov/pubmed/26637978 CDG IIn CDG2N CDGIIn SLC39A8-CDG A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. MIM:616828 ORDO:468684 CCDC115-CDG CDG IIo CDG syndrome type IIo CDG2O CDGIIo Carbohydrate deficient glycoprotein syndrome type IIo Congenital disorder of glycosylation type 2o disease_ontology DOID:0070267 congenital disorder of glycosylation type IIo A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/26833332 CCDC115-CDG CDG IIo CDG2O CDGIIo A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. MIM:616829 ORDO:466703 CDG IIp CDG syndrome type IIp CDG2P CDGIIp Carbohydrate deficient glycoprotein syndrome type IIp Congenital disorder of glycosylation type 2p TMEM199-CDG disease_ontology DOID:0070268 congenital disorder of glycosylation type IIp A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/26833330 CDG IIp CDG2P CDGIIp TMEM199-CDG